P28340
PR
Gene name |
POLD1 |
Protein name |
DNA polymerase delta catalytic subunit |
Names |
3'-5' exodeoxyribonuclease, DNA polymerase subunit delta p125 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5424 |
EC number |
2.7.7.7: Nucleotidyltransferases |
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
1622 variants for P28340
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1057517594 RCV000570492 RCV000411507 |
1 | M>K | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1057517594 RCV001017954 RCV001759699 RCV001302452 |
1 | M>T | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001048613 rs2038467552 |
1 | M>V | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2038467819 RCV001343532 |
2 | D>H | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001070117 rs2038467920 |
3 | G>D | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001052280 rs2038468125 |
4 | K>Q | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000475642 CA9595581 rs748471297 RCV000759935 |
5 | R>Q | Variant assessed as Somatic; 0.0001469 impact. Colorectal cancer, susceptibility to, 10 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
VAR_048878 rs9282830 RCV000732271 RCV002257545 CA9595580 RCV001079499 RCV001818598 |
5 | R>W | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000226679 RCV000759220 CA9595584 rs778275831 RCV003165620 |
6 | R>P | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000411457 CA9595583 RCV000985925 RCV000780642 rs778275831 RCV000573664 RCV000211516 |
6 | R>Q | Hereditary cancer-predisposing syndrome Colorectal cancer Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs55955638 CA9595582 RCV000645857 |
6 | R>W | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001043362 rs2038469040 |
7 | P>Q | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555789025 RCV000645849 CA406970001 |
9 | P>L | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001248416 rs2038469598 |
10 | G>R | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003133269 RCV000765467 RCV000472030 RCV001591085 rs772197667 RCV000507999 CA9595588 RCV002255390 |
12 | G>R | Hereditary cancer-predisposing syndrome Mandibular hypoplasia-deafness-progeroid syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA9595590 rs760884573 RCV000476071 |
13 | V>L | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA9595591 RCV000460088 rs760884573 |
13 | V>M | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1601188655 RCV000813620 CA406970033 |
15 | P>L | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002327302 rs2038470850 RCV001050788 |
15 | P>LA | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002465730 CA9595594 RCV001357503 rs765185645 RCV000590955 RCV001571499 RCV000689432 |
16 | K>E | Colorectal cancer Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA406970042 RCV000645865 rs373637566 |
17 | R>L | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000468373 RCV001564421 CA9595596 rs373637566 |
17 | R>Q | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000679518 CA9595595 RCV000467060 rs570461545 |
17 | R>W | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000701833 CA406970044 rs1568614680 |
18 | A>T | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000572088 RCV001224466 rs1555789043 |
18 | A>missing | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA9595598 RCV002258928 RCV000473390 rs368033860 RCV000679521 |
19 | R>C | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_019340 rs3218773 RCV000589239 CA349025 RCV000419509 RCV000204841 RCV002500662 RCV000210816 RCV001357701 |
19 | R>H | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 Endometrial carcinoma [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs3218773 RCV001043786 |
19 | R>L | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA406970057 RCV003117603 RCV002352408 rs778329225 RCV000810647 |
20 | G>A | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002356674 rs778329225 RCV001567390 RCV000459378 CA9595599 |
20 | G>E | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA406970056 rs1601188789 RCV000801314 |
20 | G>R | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA9595600 VAR_048879 rs9282831 RCV000546801 |
21 | G>C | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001317793 CA9595601 rs771371900 |
21 | G>D | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs771371900 RCV000645848 CA406970062 |
21 | G>V | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV003222030 CA9595602 RCV000535041 COSM1221437 COSM1221436 rs779418268 |
22 | L>F | large_intestine Colorectal cancer, susceptibility to, 10 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
rs2038473235 RCV001293841 |
23 | W>missing | Colorectal cancer [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2038473555 RCV001310025 |
23 | W>* | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1189793004 CA406970069 RCV002366008 RCV001224065 |
23 | W>R | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000530710 rs772855121 |
25 | D>missing | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA406970084 rs1426253750 RCV000685631 |
25 | D>N | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000645797 rs760939854 CA9595608 |
26 | D>G | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001027048 rs767241512 |
27 | D>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000645795 rs767241512 RCV002422341 |
27 | D>missing | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs150066950 RCV001357798 RCV000457704 CA9595609 RCV000571898 RCV000235786 RCV000415831 |
27 | D>V | Hereditary cancer-predisposing syndrome Polymerase proofreading-related adenomatous polyposis Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001764580 RCV002438444 RCV000537097 rs765097158 CA9595612 |
28 | A>V | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA9595613 RCV003168789 RCV000471199 rs750303995 RCV001551983 |
29 | P>S | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs765969481 RCV002374995 RCV001070665 CA9595614 |
30 | R>L | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs765969481 RCV001235797 |
30 | R>P | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA406970114 RCV002372320 RCV000818343 rs765969481 |
30 | R>Q | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000420692 RCV000204228 RCV000576004 COSM1129751 RCV000588327 CA348473 COSM1129750 RCV002500664 VAR_016146 rs3218772 |
30 | R>W | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 prostate [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002372775 rs2038475705 RCV001043038 |
31 | P>L | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA406970126 RCV000699121 RCV002386231 rs959521780 RCV001799702 |
32 | S>F | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000806489 rs959521780 RCV002381777 CA309597856 |
32 | S>Y | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA406970127 rs1601189076 RCV001019767 |
33 | Q>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001038467 rs2038476429 |
34 | F>I | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA406970142 RCV000759209 rs754716741 RCV000817893 RCV002379515 RCV001043709 |
34 | F>L | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP ClinGen ExAC TOPMed gnomAD |
|
rs554554906 RCV000463677 RCV000985919 CA9595617 |
35 | E>K | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001764403 CA16616104 rs1060501832 RCV000476945 RCV002402254 |
35 | E>V | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000532928 rs1555789096 RCV002420473 |
36 | E>missing | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA9595618 rs754269222 RCV002280150 RCV001037683 |
37 | D>N | Variant assessed as Somatic; 0.0 impact. Colorectal cancer, susceptibility to, 10 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs1601189190 RCV002453852 RCV000815284 CA406970166 |
38 | L>Q | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001224296 CA406970165 rs1484596172 |
38 | L>V | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001318604 rs2038477930 |
39 | A>V | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1255892076 CA406970188 RCV001304913 RCV002384371 |
41 | M>I | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001238193 CA309597862 RCV002375258 rs993203717 |
42 | E>D | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001337310 rs2038478571 |
42 | E>K | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1300269779 RCV000542408 RCV000507137 RCV000575217 |
42 | E>missing | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2038478231 RCV001205708 |
43 | E>missing | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA9595619 RCV000461195 RCV001577011 rs757575448 |
44 | M>I | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001046970 rs2038478768 |
44 | M>V | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA406970237 rs1555789124 RCV000524966 |
48 | H>P | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA406970242 rs1413839068 RCV001067133 |
49 | R>G | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000805563 CA406970257 rs1601189349 |
51 | Q>R | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003162931 rs984358794 CA309597869 RCV000645884 |
52 | E>K | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002268454 rs1368414810 RCV001209823 CA406970275 |
54 | E>K | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1060504346 RCV001214130 |
55 | E>D | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs766482335 RCV001349427 |
56 | E>missing | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA406970299 rs1281656236 RCV001773702 RCV001350308 |
57 | E>K | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001013004 CA406970314 rs1601189472 |
59 | Q>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA309597883 RCV001052223 RCV002400301 rs924990439 RCV001772258 |
59 | Q>P | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2038482013 RCV001062556 |
60 | S>* | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2038482013 RCV001318548 |
60 | S>L | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555789135 RCV000645830 CA406970319 |
60 | S>P | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002409469 CA406970333 rs1224431670 RCV001057842 |
62 | L>P | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs747055885 RCV001056434 |
62 | L>V | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001551206 CA9595628 RCV000990245 RCV000709577 rs776773005 |
63 | E>D | Familial colorectal cancer Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000472021 RCV002525562 RCV001721498 CA9595627 rs200736325 RCV000481133 |
63 | E>K | Colorectal cancer, susceptibility to, 10 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA406970347 rs975951740 RCV001344439 |
65 | V>F | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000536716 rs975951740 CA406970348 |
65 | V>I | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002406413 RCV000645796 RCV001584487 CA309597910 rs975951740 |
65 | V>L | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000460501 CA9595629 RCV000485401 RCV000709578 rs199792522 RCV003168791 |
66 | A>G | Familial colorectal cancer Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA406970356 RCV000701516 rs199792522 RCV001766538 |
66 | A>V | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001302416 rs2038483383 |
67 | D>Y | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000657137 CA9595650 rs144707871 RCV000477990 RCV000233715 RCV000765468 |
68 | G>E | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA9595631 RCV000645859 RCV003148816 RCV001816603 rs772866918 |
68 | G>R | Variant assessed as Somatic; 0.0 impact. Colorectal cancer, susceptibility to, 10 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs772866918 RCV001043211 |
68 | G>W | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA9595651 rs371040297 RCV001208561 |
69 | Q>* | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP |
|
RCV000562731 RCV000210898 rs147911699 RCV000228225 RCV000709579 CA358335 RCV000765469 RCV000235439 RCV000657103 |
70 | V>F | Carcinoma of colon Familial colorectal cancer Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001082452 rs147911699 RCV000481096 CA9595652 RCV000657092 |
70 | V>I | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs2038496590 RCV001299619 |
71 | P>L | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2038496868 RCV001216695 |
72 | P>L | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1601190393 CA406970406 RCV000791682 |
73 | S>L | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA9595654 RCV000698014 rs775119313 RCV003163223 |
73 | S>T | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA406970418 rs1601190450 RCV000808554 |
75 | I>M | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10583812 rs878854534 RCV000233004 RCV002418009 |
75 | I>T | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000473956 RCV000765470 CA16616307 RCV002429503 rs940296193 RCV002469154 |
75 | I>V | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA406970420 RCV001223328 rs1270501754 |
76 | D>H | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000550145 RCV002248772 rs1555789213 CA406970432 |
77 | P>R | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001294003 CA9595656 RCV001551924 rs141319800 RCV000234017 |
78 | R>C | Mandibular hypoplasia-deafness-progeroid syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs750825686 RCV002260639 CA9595657 RCV000475205 |
78 | R>H | Variant assessed as Somatic; 0.0 impact. Colorectal cancer, susceptibility to, 10 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA9595658 RCV002458410 rs750825686 RCV000792448 |
78 | R>L | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000645837 CA406970435 rs750825686 |
78 | R>P | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA406970443 rs1601190560 RCV000816234 |
79 | W>C | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2038498593 RCV001041632 |
79 | W>CF | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000542680 CA406970446 rs1555789219 |
80 | L>V | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001234889 rs755461109 |
81 | R>P | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs755461109 RCV002456166 RCV001536206 RCV000545205 CA9595661 |
81 | R>Q | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002442406 CA9595660 RCV000679495 RCV000684852 rs752124373 |
81 | R>W | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000235997 CA9595662 RCV000231482 RCV000765471 rs201006221 RCV000566453 |
82 | P>L | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001772286 RCV001062040 rs1064794543 |
82 | P>S | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA9595663 RCV001212057 rs752685876 |
83 | T>I | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001066068 rs2038499315 |
83 | T>S | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001307790 rs1417698677 |
84 | P>T | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001535482 RCV000759952 RCV000462279 RCV001821260 rs148040399 CA9595664 |
86 | A>V | Mandibular hypoplasia-deafness-progeroid syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA406970501 rs1568615664 RCV000684862 |
87 | L>P | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001552188 RCV003163240 rs554367061 RCV000699755 CA9595667 |
88 | D>N | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs1601190749 RCV001016212 |
89 | P>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001234687 rs2038500582 |
89 | P>S | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002456170 CA9595668 RCV000547586 rs778838312 |
90 | Q>L | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA406970529 rs778838312 RCV001770453 RCV002438433 RCV000537222 |
90 | Q>R | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2038501112 RCV001324536 |
91 | T>missing | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1601190794 RCV000796906 CA406970541 |
91 | T>R | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000690882 CA406970547 rs1568615700 |
92 | E>K | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs772106549 RCV002436890 CA9595670 RCV001229541 |
93 | P>S | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV000470500 CA16616321 rs1060501835 |
95 | I>F | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2038502299 RCV001303587 |
98 | Q>* | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA406970622 RCV000551969 rs1219450171 |
98 | Q>H | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000765472 RCV001556112 rs140858857 RCV002268077 RCV000471361 CA9595675 |
101 | I>F | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000796721 CA406970664 CA9595677 RCV001302632 rs751896972 |
102 | D>E | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs766784938 RCV000705164 CA9595676 |
102 | D>N | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1568615792 CA406970671 RCV000696523 |
103 | H>Y | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000471804 RCV001566790 CA16616109 rs968051129 |
104 | Y>F | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000693806 rs968051129 CA406970685 |
104 | Y>S | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1240570706 RCV001302492 |
105 | V>M | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001051860 RCV002320288 rs2038641578 RCV001759987 |
107 | P>S | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000759956 CA9595700 rs577686721 RCV000546732 |
108 | A>V | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000689476 rs1334973313 CA406972072 RCV001527351 |
109 | Q>E | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA406972087 CA9595702 RCV000664284 rs750260438 RCV000481462 RCV000457445 |
109 | Q>H | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ExAC TOPMed gnomAD ClinVar dbSNP |
|
RCV000996985 RCV002268074 RCV000459196 rs531059492 CA9595703 |
110 | P>S | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA16616324 rs1060501800 RCV000466271 |
111 | V>A | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2038642487 RCV001321142 |
111 | V>L | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2038643198 RCV001345904 |
112 | P>L | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10583814 rs878854553 RCV000232624 |
112 | P>S | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1489903051 RCV002451476 RCV001216045 CA406972140 |
113 | G>E | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000645868 rs1555789763 |
113 | G>missing | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA406972133 rs1568618739 RCV000702140 |
113 | G>R | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1489903051 CA406972146 RCV001070713 RCV002258129 |
113 | G>V | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs754917939 CA406972163 RCV001204994 |
115 | P>A | Variant assessed as Somatic; impact. Colorectal cancer, susceptibility to, 10 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA9595706 rs754917939 RCV000764210 RCV000462043 |
115 | P>S | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001318577 rs2038643822 |
116 | P>S | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000764211 RCV000487399 CA9595707 RCV000230429 RCV000709580 rs780604625 RCV003165624 |
118 | S>F | Familial colorectal cancer Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000657122 CA9595708 RCV000234495 RCV002465585 RCV000561181 rs747614571 |
119 | R>C | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001517296 RCV000563897 CA9595709 RCV000424291 rs1726801 VAR_019341 RCV000587162 RCV001789341 |
119 | R>H | Mandibular hypoplasia-deafness-progeroid syndrome Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1601198397 RCV000817543 |
120 | G>missing | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001352088 rs746234949 |
120 | G>C | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001307739 rs2038644870 |
120 | G>D | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA9595711 RCV000759961 RCV000554515 rs746234949 |
120 | G>R | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs746234949 RCV000539779 RCV000985937 CA406972231 |
120 | G>S | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002533482 RCV002485697 RCV000697299 rs141579552 CA9595713 RCV002260661 |
122 | V>M | Colorectal cancer, susceptibility to, 10 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1601198444 RCV000802524 |
123 | P>missing | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA406972287 rs1601198466 RCV000795990 RCV000985938 |
123 | P>L | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs761127022 RCV001539753 CA9595714 RCV000461139 RCV002348308 |
123 | P>S | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000561011 RCV000657084 RCV001080725 RCV001778795 RCV001356860 CA350480 rs199993010 |
124 | V>A | Carcinoma of colon Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA406972300 rs199993010 RCV000795460 |
124 | V>G | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1060501827 CA16616110 RCV000469855 |
125 | L>V | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002478745 RCV002363035 RCV001552241 rs864622753 CA349923 RCV000205808 |
126 | R>C | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
CA406972326 RCV000696758 rs1568618887 |
126 | R>H | Variant assessed as Somatic; impact. Colorectal cancer, susceptibility to, 10 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs372299975 CA406972336 RCV000553112 |
127 | A>S | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
COSM999671 RCV000817253 RCV003222144 COSM999672 CA9595716 rs372299975 |
127 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium Colorectal cancer, susceptibility to, 10 [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA dbSNP gnomAD |
|
CA9595717 rs750745043 RCV001307903 |
128 | F>V | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA9595718 RCV001337290 rs766133047 |
129 | G>A | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA406972366 rs1229830033 RCV001204743 CA406972369 |
129 | G>R | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen TOPMed gnomAD ClinVar dbSNP |
|
CA406972425 RCV000645877 rs1555789791 |
132 | D>G | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001731537 RCV000227114 RCV000479764 rs781132734 CA9595721 |
132 | D>N | Variant assessed as Somatic; 0.0 impact. Colorectal cancer, susceptibility to, 10 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA658658857 rs1555789793 RCV000531379 |
136 | S>P | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2038649098 RCV001221075 RCV001819913 |
137 | V>missing | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000794300 rs1601198706 CA406972572 |
140 | H>R | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2038649462 RCV001229103 |
140 | H>Y | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA309599166 rs562388532 RCV001041778 |
141 | I>F | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV003159860 CA9595726 rs201187429 RCV003148780 RCV000547260 |
142 | H>Q | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000460392 CA9595728 RCV002264941 rs377088357 |
143 | G>S | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs137953986 RCV001234251 |
145 | A>S | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001354723 CA349109 RCV000236076 rs137953986 RCV000417237 RCV000573522 RCV002503818 RCV001081357 RCV000588877 |
145 | A>T | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 Familial ovarian cancer [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001318282 rs2038650909 |
146 | P>A | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001062652 rs2038651287 |
147 | Y>C | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA406972685 rs1326137249 RCV000701039 |
147 | Y>D | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2038651492 RCV001313611 |
148 | F>L | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555789803 CA406972743 RCV000645833 |
150 | T>I | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001869398 RCV000996986 rs1601198870 CA406972758 |
151 | P>L | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA406972763 rs1555789809 RCV000557389 |
152 | A>P | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001818602 RCV000657109 RCV000575277 CA9595733 RCV000709581 RCV000990248 rs41563714 |
152 | A>V | Familial colorectal cancer Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA406972786 RCV000535721 rs1555789813 |
153 | P>L | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA406972779 RCV000645836 rs1555789811 |
153 | P>S | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs947999258 CA309599193 RCV001056359 |
154 | P>R | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001568519 CA9595752 RCV002268076 RCV002339152 RCV000473753 rs553279670 |
155 | G>A | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs2038657050 RCV001239190 |
156 | F>C | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000702930 rs1568619275 CA406972889 |
157 | G>E | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000759241 CA9595755 rs774568050 RCV000234504 RCV000561390 |
157 | G>R | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000694147 CA309599259 rs995091173 |
158 | P>S | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001022950 RCV000645845 RCV000657453 rs764964017 |
159 | E>missing | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000549113 RCV001786400 rs969950434 RCV003159861 CA309599275 |
159 | E>K | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001325635 rs2038658464 |
160 | H>Q | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs144770820 RCV000809880 CA9595759 |
160 | H>Y | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1419541816 RCV001049898 RCV002339253 CA406972959 |
161 | M>I | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000759242 CA9595761 rs763969133 RCV000471753 RCV000679002 |
161 | M>L | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs763969133 RCV001063835 |
161 | M>V | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060501844 CA16616114 RCV000458632 |
162 | G>V | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001868083 RCV000607310 CA406972977 rs753299061 |
163 | D>Y | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000657703 rs1555789891 RCV000562117 RCV001062594 CA406973007 |
165 | Q>* | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001327563 rs2038658000 |
166 | R>AHG* | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs750144413 RCV001558398 RCV001197534 CA9595764 RCV000228410 |
166 | R>Q | Mandibular hypoplasia-deafness-progeroid syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000205369 RCV000486470 RCV000764212 CA349525 rs376236497 |
166 | R>W | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001228891 rs2038659815 |
167 | E>missing | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555789893 RCV000534127 |
167 | E>missing | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2038660010 RCV001307410 |
169 | N>H | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2038660402 RCV001296775 |
170 | L>F | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000469796 RCV003168788 RCV001375536 CA9595767 RCV001535579 rs748486492 |
171 | A>S | Familial colorectal cancer Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2038660657 RCV001208209 |
171 | A>V | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2038660307 RCV001339972 |
172 | I>missing | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1601199496 RCV001023606 |
173 | S>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2038661027 RCV001351905 |
173 | S>G | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001357026 VAR_019342 rs1726803 RCV000586444 RCV000569972 RCV001084357 CA9595769 RCV000424652 |
173 | S>N | Carcinoma of colon Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000548910 rs1555789901 CA406973138 |
173 | S>R | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001323845 rs141976385 |
174 | R>L | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA9595771 RCV000571646 rs141976385 RCV000679519 COSM3783279 RCV000709582 RCV000234115 COSM3783280 |
174 | R>Q | Familial colorectal cancer Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 prostate [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA9595770 rs749334182 RCV001568780 RCV000231174 |
174 | R>W | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001351522 rs1601199588 |
175 | D>H | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001766754 CA406973159 rs1601199588 RCV000823821 |
175 | D>Y | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA406973168 rs1601199616 RCV000808730 RCV002345824 |
176 | S>G | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000229041 rs760402496 RCV001778816 CA9595776 RCV002347886 |
177 | R>C | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000527163 rs3218750 CA9595778 RCV002258959 VAR_019343 RCV000679520 |
177 | R>H | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
CA9595781 rs140707092 RCV001662426 RCV000484189 RCV000457177 CA9595780 RCV000541905 |
178 | G>R | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs140707092 COSM3797401 RCV002343318 CA9595782 RCV000645816 COSM3797400 |
178 | G>W | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome urinary_tract Colorectal cancer, susceptibility to, 10 [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA16616333 RCV000464736 rs1060501831 |
179 | G>E | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs749864626 CA406973231 RCV000798476 |
180 | R>G | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA16616340 rs1060501833 RCV000475046 |
181 | E>* | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs757683193 CA406973265 RCV000540580 RCV002350311 RCV001567818 |
182 | L>M | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001058010 rs2038663921 |
182 | L>P | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs370292497 CA9595791 RCV000645798 |
185 | P>L | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001203645 rs2038664735 |
186 | A>V | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001218229 rs2038664834 |
187 | V>missing | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs775620863 CA9595793 RCV002350608 RCV001326944 |
187 | V>L | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs775620863 RCV001764402 RCV000473759 CA9595794 |
187 | V>M | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001575663 RCV000530200 rs768494581 CA9595795 RCV002350313 |
188 | L>R | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001233718 rs1601199826 |
188 | L>V | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000645817 RCV002343319 rs761846026 RCV002248840 CA9595797 RCV002284416 |
189 | A>S | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA406973397 rs1555789928 RCV000544964 RCV002350314 RCV001770455 |
189 | A>V | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002350315 CA406973407 RCV000555082 rs1274728448 RCV003156253 COSM1681234 COSM1681233 |
190 | V>M | large_intestine Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
RCV001232922 rs1044023384 CA309599384 RCV002348784 |
191 | E>D | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001053989 CA9595799 rs772804822 |
192 | L>P | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA16616335 rs772804822 RCV000474576 |
192 | L>R | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs374937343 RCV001824935 RCV001215440 |
192 | L>V | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1601199920 RCV000795407 |
193 | C>missing | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001356988 RCV000567879 RCV000506634 rs144656348 RCV003128399 CA9595802 RCV000679522 RCV001084000 |
194 | S>C | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA9595803 RCV000231988 RCV000479381 RCV000576035 rs377690809 RCV002465586 |
195 | R>* | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000679523 RCV000533396 rs1555789938 COSM1395447 COSM1395446 CA406973488 |
195 | R>Q | large_intestine Variant assessed as Somatic; impact. Colorectal cancer, susceptibility to, 10 [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1040524947 RCV001049363 |
197 | S>G | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003159146 RCV000645875 RCV002358840 rs780144670 CA9595829 |
197 | S>N | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000645888 rs1040524947 CA309599399 RCV000757928 |
197 | S>R | Familial colorectal cancer Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000814184 CA406973728 rs1568619850 RCV000706247 CA406973731 |
198 | M>I | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000229817 RCV000985940 CA10583816 RCV003165625 rs878854555 |
201 | Y>H | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000459336 RCV002356675 CA9595832 rs200405635 |
202 | H>Q | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000697950 rs1568619907 CA406973852 |
203 | G>E | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002268121 RCV000479316 rs369896998 CA9595834 RCV000532071 |
203 | G>R | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA406973877 RCV000687685 rs1568619926 |
204 | H>L | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000985941 RCV000465461 CA16616117 RCV002248682 rs914238978 |
205 | G>S | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001041571 rs2038674007 |
207 | S>C | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001584488 CA9595838 rs774030917 RCV001535618 RCV000645852 |
208 | P>L | Variant assessed as Somatic; 0.0 impact. Colorectal cancer, susceptibility to, 10 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001299651 RCV002366131 rs774030917 |
208 | P>Q | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000470196 RCV002365632 CA9595840 rs200679966 |
211 | R>C | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000507707 CA9595841 RCV000985261 RCV000558072 rs373192520 |
211 | R>H | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002509636 RCV001226250 CA9595843 rs373192520 |
211 | R>P | Colorectal cancer, susceptibility to, 10 Variant assessed as Somatic; 0.0004821 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000536380 RCV002358544 CA9595844 rs750753334 |
213 | T>A | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA406974063 RCV000556736 RCV001548496 rs1200514497 |
214 | V>M | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2038675489 RCV001202672 |
215 | A>S | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs993539085 RCV000792190 CA309599525 RCV001592969 |
215 | A>V | Variant assessed as Somatic; 0.0 impact. Colorectal cancer, susceptibility to, 10 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000462972 rs1060501817 CA16616337 RCV002356673 |
217 | P>A | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1408031137 RCV000549805 RCV001552129 CA406974131 |
217 | P>L | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001305183 rs1060501817 RCV002366147 |
217 | P>S | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000563948 rs1064792946 RCV000458081 |
217 | P>missing | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000764213 RCV003133531 rs1295943468 CA406974142 RCV000691395 |
218 | R>C | Mandibular hypoplasia-deafness-progeroid syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000236875 rs150010804 RCV001079679 RCV001355957 RCV000568154 RCV000657073 CA9595850 |
218 | R>H | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 Endometrial carcinoma [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001323517 rs150010804 |
218 | R>P | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1405187462 CA406974160 RCV001040755 RCV002363576 |
219 | L>F | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1814126281 RCV001211117 |
220 | V>missing | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA9595854 rs749052483 RCV001055833 |
220 | V>L | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001564212 RCV002360598 CA9595853 rs749052483 RCV000645887 |
220 | V>M | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000703696 CA406974200 rs1023405690 |
221 | A>P | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000475918 rs1023405690 RCV002365631 RCV000593709 CA16616351 |
221 | A>S | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000470943 RCV001552706 RCV002365630 CA9595857 rs368940099 |
222 | P>L | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA406974228 rs1310251395 RCV000805770 |
222 | P>S | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1555790021 RCV000645820 CA406974246 |
223 | A>T | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs768253410 CA9595860 RCV000475033 |
224 | R>C | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002281109 CA9595861 RCV000549474 rs373001984 COSM2754536 COSM2754535 |
224 | R>H | lung Variant assessed as Somatic; 0.0 impact. Colorectal cancer, susceptibility to, 10 [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001770456 RCV000527711 rs763249087 CA9595862 RCV002367889 |
225 | R>C | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002372204 RCV003221860 RCV000709583 CA348690 RCV000204470 rs144979965 |
225 | R>H | Familial colorectal cancer Hereditary cancer-predisposing syndrome Variant assessed as Somatic; 4.683e-05 impact. Colorectal cancer, susceptibility to, 10 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs763249087 RCV001204183 |
225 | R>S | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001295560 rs2038678414 |
229 | Q>missing | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000542581 rs1555790033 CA406974341 |
229 | Q>E | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA406974352 RCV001051999 rs1333627312 |
229 | Q>H | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002369937 rs1021342807 RCV000702565 CA309599580 |
229 | Q>R | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs774789534 CA9595863 RCV000552646 |
232 | R>C | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs760077781 RCV001561725 RCV000685623 CA9595864 |
232 | R>H | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs767544834 RCV001063902 CA9595866 |
238 | T>A | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs553342844 CA9595867 RCV000764214 RCV000475476 RCV000236230 |
238 | T>M | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA406974480 RCV000817268 rs1601201029 |
239 | P>H | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001238902 rs1307112941 CA406974476 |
239 | P>S | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2038680003 RCV001315305 |
240 | S>G | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002375007 rs2038680089 RCV001072001 |
240 | S>N | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000818983 rs1601201039 RCV002372328 CA406974501 |
240 | S>R | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1568620331 RCV002369906 CA406974503 RCV000698450 |
241 | F>V | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs910905700 RCV000759251 CA309599602 RCV000645821 |
242 | A>T | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA9595869 RCV002384182 RCV002060335 RCV000531056 rs753689379 |
242 | A>V | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000233507 rs878854556 CA10583818 |
245 | E>K | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001299676 rs2038681232 |
246 | A>D | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001346124 RCV002384478 rs1292667374 |
247 | N>S | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000478209 rs538267691 RCV000458839 CA9595874 |
248 | V>I | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001209399 CA309599624 rs1007807839 RCV002379792 |
249 | D>N | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001222934 rs2038682080 |
252 | I>M | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001770457 CA406974693 RCV000555934 rs1366413924 |
253 | R>Q | Variant assessed as Somatic; 0.0 impact. Colorectal cancer, susceptibility to, 10 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000694617 CA9595877 rs776204287 |
253 | R>W | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA406974791 RCV000818857 rs746195458 |
256 | V>M | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002257513 RCV000431487 CA350135 rs76131127 RCV000990251 RCV000679526 |
258 | T>M | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs76131127 RCV001341430 |
258 | T>R | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA406974847 rs1158003090 RCV001044248 RCV003160321 |
259 | D>E | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000699903 CA406974862 RCV000759965 rs762155346 |
260 | I>M | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs8105725 RCV000213915 RCV001084127 CA349220 RCV000568363 RCV000759964 RCV002485354 |
260 | I>V | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000465312 rs765448811 RCV002411456 CA16616339 |
261 | V>F | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA9595904 RCV000695942 RCV003163198 rs765448811 RCV000759966 |
261 | V>I | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs571623032 RCV000231301 CA9595906 RCV002264923 COSM999684 RCV001818603 COSM999683 |
262 | G>S | Variant assessed as Somatic; 0.0 impact. endometrium Colorectal cancer, susceptibility to, 10 [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA16616119 RCV000463303 rs965047439 |
267 | E>D | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000809138 RCV002537305 CA406974988 rs1173910214 |
269 | P>A | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA9595912 rs577425714 RCV000685463 |
271 | G>E | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001037485 RCV001819741 rs923485004 CA309599763 |
271 | G>R | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002418729 rs1398389717 CA406975039 RCV001212934 |
272 | K>N | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001049317 rs2038690465 |
272 | K>R | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000529473 CA406975055 rs777427540 |
273 | Y>* | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs878854557 RCV002487066 CA10583819 RCV000229086 RCV002298546 |
274 | A>T | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001312299 CA309599802 rs929578064 |
279 | E>D | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000645846 CA406975139 rs1555790176 |
279 | E>V | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs746341854 RCV002469204 RCV000562268 RCV000645839 RCV000679528 |
279 | E>missing | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2038696019 RCV001309788 |
282 | T>A | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs756829126 RCV001576524 CA9595934 RCV000645807 |
282 | T>M | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001017879 rs1601202330 CA406976645 |
283 | Q>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000430306 RCV001358262 rs113282414 CA348006 RCV000203707 RCV000586017 RCV000561488 |
283 | Q>H | Polymerase proofreading-related adenomatous polyposis Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA406976747 RCV001307121 rs1356659212 RCV002375383 |
287 | E>D | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000687507 CA406976733 rs1568621131 |
287 | E>K | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16616365 RCV000463866 RCV002374775 rs1060501857 |
288 | A>T | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001323465 CA9595936 rs755550936 RCV003127802 |
288 | A>V | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000764215 CA10583820 RCV000230308 RCV000679532 rs878854558 |
289 | D>G | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA9595938 RCV001568631 RCV000645823 rs748657880 RCV000610865 |
290 | V>M | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000470696 RCV001753884 CA9595939 rs199999050 |
291 | L>P | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001212803 rs2038698709 |
292 | W>R | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2038698936 RCV001054079 |
293 | S>P | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001035422 rs2038699519 |
295 | V>missing | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA406976874 rs199545019 RCV001050914 |
295 | V>L | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ESP ExAC TOPMed gnomAD ClinVar dbSNP |
|
RCV000509515 RCV000990252 RCV001356392 RCV000236306 RCV002257546 rs199545019 CA9595941 |
295 | V>M | Carcinoma of colon Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001300046 rs2038699906 |
296 | V>missing | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002305490 RCV000462957 rs1060501809 |
296 | V>missing | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs774155133 RCV001211968 |
296 | V>A | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002377117 rs774155133 CA9595943 RCV000547410 |
296 | V>G | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000699046 CA406976929 rs1568621267 |
297 | S>I | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1601202545 RCV002372359 RCV000823303 CA406976942 |
298 | H>R | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2038700651 RCV001036537 |
298 | H>Y | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000558532 rs759271754 CA9595944 |
299 | P>S | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001244223 rs759271754 |
299 | P>T | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000507304 rs1060501821 CA16616342 RCV001584152 RCV000461519 |
300 | P>L | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA9595946 RCV000456941 rs775463372 |
300 | P>L | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1555790257 RCV000645776 |
301 | E>missing | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1170636736 RCV001321021 CA406977004 |
301 | E>A | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA9595950 RCV000813781 rs756953109 |
303 | P>S | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs756953109 RCV001230167 |
303 | P>T | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs755457889 RCV003159862 RCV001584302 CA9595953 RCV000536988 |
306 | R>C | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002305507 COSM1239889 RCV002258960 RCV000551592 RCV001821557 rs781682472 CA9595954 COSM1239890 |
306 | R>H | oesophagus Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
RCV001299447 rs2038702963 |
307 | I>M | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA406977155 rs1555790271 RCV000645804 |
307 | I>T | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16616367 rs1060501823 RCV000471507 |
308 | A>V | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002369711 CA406977206 rs1290315327 RCV000645771 |
310 | L>F | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2038703530 RCV001295186 |
310 | L>FC | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002372333 rs368035758 CA9595955 RCV001824385 RCV000819746 |
310 | L>V | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs201010746 COSM1481365 RCV000484263 RCV000573629 CA9595956 RCV000476261 COSM1481366 |
311 | R>C | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 breast [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA9595957 RCV002510897 rs777944185 RCV000563901 RCV000473738 |
311 | R>H | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs201010746 RCV001019165 RCV000759971 RCV000525488 CA10584616 |
311 | R>S | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000759972 rs371612922 RCV000565647 CA9595959 RCV000474151 |
312 | V>M | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001211688 rs2038704235 |
313 | L>I | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000572421 RCV000550403 CA406977284 rs1254476274 RCV001770458 |
314 | S>G | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001585925 RCV001019331 CA406977290 rs1601202823 |
314 | S>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555790301 RCV000571390 CA406977341 |
316 | D>G | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000574489 RCV000699256 CA10584617 rs746087148 RCV000236867 |
316 | D>N | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Colorectal cancer, susceptibility to, 10 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000820132 CA406977360 rs1601202863 RCV002372338 |
317 | I>T | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002375380 RCV001306646 rs2038704916 |
317 | I>V | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000554555 RCV001019469 rs1555790304 CA406977377 |
318 | E>A | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000575902 rs1555790304 CA406977378 |
318 | E>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs775232133 RCV000538810 CA9595963 RCV002377118 |
318 | E>K | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001306412 rs775232133 RCV003166741 |
318 | E>Q | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001019485 rs1601202900 RCV000807906 CA406977392 |
319 | C>G | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001226127 rs1488821062 RCV001019517 CA406977418 |
320 | A>S | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000533022 rs1488821062 CA406977412 RCV001538855 RCV000564481 |
320 | A>T | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002386219 rs1568621530 RCV000697002 |
321 | G>missing | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA348762 RCV000564226 RCV002267945 RCV000709584 RCV000764216 rs41554817 RCV000657083 RCV000204540 RCV001356862 |
321 | G>S | Carcinoma of colon Familial colorectal cancer Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs750155990 RCV000474306 RCV000573519 CA9595968 |
322 | R>C | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs750155990 RCV002369944 CA16040480 RCV000703205 |
322 | R>G | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000479115 RCV000538479 RCV002506169 CA16620885 RCV001019591 rs980303681 RCV001294004 |
322 | R>H | Mandibular hypoplasia-deafness-progeroid syndrome Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs980303681 RCV002377119 CA406977463 RCV000553388 |
322 | R>L | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1601203011 CA406977487 RCV001019630 |
323 | K>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002285332 rs1060501828 CA16616368 RCV000461651 RCV002256266 |
323 | K>R | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000546411 CA406977494 rs1160832458 |
324 | G>C | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001247590 rs1388338405 RCV002379948 CA406977666 |
324 | G>D | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001249732 rs1160832458 |
324 | G>R | POLD1-related disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2038720962 RCV001218128 |
325 | I>N | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2038720962 RCV001045408 |
325 | I>T | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000464281 CA9595997 RCV000565563 rs558345043 RCV001547140 |
325 | I>V | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000033143 CA130719 rs397514633 |
327 | P>L | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2038721213 RCV001225224 |
327 | P>T | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001214574 rs1401103913 |
328 | E>D | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001019809 CA406977771 rs1568622018 RCV000694627 |
329 | P>S | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000464922 rs1060501813 CA16616125 |
330 | E>* | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000701744 CA406977796 rs1568622036 |
330 | E>G | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs371120096 CA406977816 RCV000569053 |
331 | R>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs371120096 RCV001574865 CA9595999 RCV000567863 RCV000462405 |
331 | R>Q | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002384183 RCV000531277 RCV000759254 rs370734242 CA309601305 |
331 | R>W | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV001019942 CA406977824 RCV001327316 rs1601204080 |
332 | D>N | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA406977830 RCV000815516 rs1601204080 |
332 | D>Y | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002381884 RCV001800893 RCV000824199 CA406977854 rs1601204099 |
333 | P>S | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2038722953 RCV001036843 |
335 | I>V | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000464467 RCV001009682 CA16616115 rs1060501825 |
336 | Q>H | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1601204144 RCV001016967 CA406977937 |
336 | Q>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001055487 CA406977986 rs1259338122 |
339 | S>A | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001819719 rs866500487 RCV001860611 CA406977991 RCV001009701 |
339 | S>L | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000571224 rs1555790398 |
342 | L>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000525729 RCV001770451 CA9596004 rs762494977 RCV001017022 |
343 | R>C | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000540733 CA9596005 RCV000236082 RCV000576104 rs140539427 |
343 | R>H | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000571398 RCV001566503 CA9596006 RCV000229812 rs140539427 |
343 | R>P | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA406978059 RCV001204563 rs538046428 RCV000700375 RCV002393460 CA309601309 |
344 | W>C | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP gnomAD |
|
RCV000645802 rs1555790406 CA406978055 |
344 | W>S | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA406978071 RCV001017083 rs1555790409 |
345 | G>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1422749121 CA406978064 RCV001294458 |
345 | G>R | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen gnomAD ClinVar dbSNP |
|
RCV000567737 rs1555790409 RCV002526887 CA406978076 |
345 | G>V | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001017094 rs749601227 |
346 | E>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001051318 rs1064796383 |
346 | E>K | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000571097 CA9596009 rs2230243 VAR_048880 RCV000456244 RCV001090754 |
347 | P>L | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001237557 rs2038726190 |
350 | F>L | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs762330164 RCV000468853 RCV001821258 RCV000566624 COSM1395450 CA9596011 COSM1395451 RCV000679470 |
352 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA9596012 rs556862476 RCV000564680 RCV000466605 RCV000679471 |
352 | R>H | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA406978188 RCV000529496 rs556862476 RCV001292828 |
352 | R>L | Mandibular hypoplasia-deafness-progeroid syndrome Variant assessed as Somatic; impact. Colorectal cancer, susceptibility to, 10 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001083192 RCV000481032 CA9596013 RCV000232660 rs140990974 RCV000575879 |
354 | A>V | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs2038727607 RCV002411955 RCV001300893 |
357 | L>missing | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs143340270 RCV001017202 RCV000474935 RCV000478750 CA16616121 |
357 | L>R | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
rs1555790419 RCV000474265 |
358 | R>missing | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002418778 rs751775497 RCV001224286 |
358 | R>G | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs878854518 CA10583823 RCV000570850 RCV000230326 RCV002508204 |
358 | R>Q | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs751775497 RCV000703990 CA9596016 RCV001755952 RCV000571769 |
358 | R>W | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs755198962 CA9596017 RCV002418668 RCV001202635 |
359 | P>R | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001037581 RCV001017221 rs756138051 CA9596020 RCV001766838 |
361 | A>V | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001069703 RCV001017163 CA406978296 rs1601204609 RCV001284036 |
362 | P>L | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA309601312 rs947583054 RCV000572835 RCV000793178 |
364 | L>P | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002447368 RCV001323257 rs947583054 |
364 | L>R | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555790445 CA406978312 RCV000645786 |
365 | G>A | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA406978311 rs1555790445 RCV001017261 |
365 | G>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001297037 rs2038729289 |
365 | G>S | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000645815 CA406978317 rs1555790449 RCV001017275 |
366 | A>G | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001220671 RCV002451509 rs1555790449 |
366 | A>V | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA406978327 RCV002456519 rs1172211460 RCV001349577 |
368 | V>M | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
rs1400257948 CA406978339 RCV000563010 RCV001858335 RCV000759211 |
369 | Q>H | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA309601314 rs927453278 RCV002451506 RCV001220538 |
370 | S>C | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs868850526 CA309601315 RCV000709585 RCV000544565 |
370 | S>I | Familial colorectal cancer Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs868850526 RCV001217665 RCV002436834 |
370 | S>N | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs927453278 CA406978341 RCV000704984 RCV002458306 |
370 | S>R | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1057119431 CA309601316 RCV000562810 RCV000645813 |
372 | E>G | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs960226186 RCV001821262 CA16616371 RCV000464011 RCV001574450 RCV001017369 |
372 | E>K | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000645803 CA309601317 RCV000566465 rs897166414 RCV001284038 |
373 | K>E | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001341047 rs2038730900 RCV002438780 |
373 | K>missing | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002274064 RCV000565353 CA9596023 RCV000533276 rs770407151 |
373 | K>R | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001300041 rs2038731369 |
375 | E>* | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002256703 rs2038731369 RCV001216961 |
375 | E>K | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000569965 RCV001321746 rs1555790466 CA406978388 |
376 | D>E | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001770515 RCV001368481 rs1231801192 RCV000565645 CA406978386 |
376 | D>G | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs773891726 RCV002446808 CA9596024 RCV000465151 |
376 | D>N | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1064794926 RCV000482514 CA16620887 RCV000700497 |
379 | Q>* | Variant assessed as Somatic; impact. Colorectal cancer, susceptibility to, 10 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1355345852 RCV000536765 CA406978402 RCV002448730 |
379 | Q>R | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001340304 rs2038745411 |
380 | A>V | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555790556 CA406978436 RCV003162929 RCV000645869 |
382 | S>P | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA406978442 RCV000549627 rs1555790559 |
383 | T>A | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA9596052 RCV000736108 RCV000698222 RCV000574660 RCV001550906 rs201654210 |
383 | T>I | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001229204 rs2038746167 |
384 | F>I | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1601206007 CA406978449 RCV001010000 |
384 | F>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1210212980 RCV001052502 |
385 | I>L | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1210212980 RCV001051579 CA406978454 RCV002348400 |
385 | I>V | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000572607 RCV000759213 RCV000471752 CA9596054 rs373046355 |
386 | R>C | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV001589181 RCV000233864 RCV000602237 rs764023083 CA9596055 RCV000764217 RCV000563945 |
386 | R>H | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001860624 CA406978473 rs1376051317 RCV001010057 |
388 | M>L | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs2038747210 RCV001304747 |
390 | P>L | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001220888 RCV002268456 RCV002327521 rs2038747136 |
390 | P>S | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555790567 RCV000662440 |
391 | D>missing | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555790565 RCV000645818 CA406978494 |
391 | D>N | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs778843530 RCV002332705 RCV000820919 CA406978503 |
392 | V>L | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM475076 COSM475077 RCV001821259 rs778843530 RCV000472244 CA9596058 RCV001764404 RCV001010133 |
392 | V>M | kidney Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome endometrium Colorectal cancer, susceptibility to, 10 [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs750322846 RCV000568712 RCV000528187 CA9596059 RCV001577470 |
393 | I>T | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA309601352 RCV001298775 RCV001010182 rs562312031 |
394 | T>I | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP gnomAD |
|
rs1601206186 RCV001010088 CA406978521 |
395 | G>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000566498 RCV002268192 CA406978520 rs1555790574 RCV001858337 |
395 | G>S | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000657285 RCV002331285 rs1414945254 RCV001325245 |
396 | Y>missing | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2038748553 RCV001247157 |
396 | Y>S | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10583824 RCV000570257 RCV000231225 rs878854519 RCV000483995 |
398 | I>M | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001348847 rs2038748705 |
398 | I>T | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002527342 CA406978546 rs1555790575 RCV000506025 |
399 | Q>* | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA406978548 rs1555790575 RCV000569666 |
399 | Q>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001216250 rs2038749136 |
400 | N>D | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA406978574 RCV000548855 rs1555790579 RCV001010322 |
402 | D>G | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1426325954 COSM1178717 RCV001284039 CA406978570 COSM1178718 RCV000568783 RCV000538343 |
402 | D>N | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 prostate [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD |
|
RCV001061010 rs1555790579 |
402 | D>V | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA406978572 RCV001010320 RCV001860633 rs1426325954 |
402 | D>Y | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001324896 rs1466617082 CA406978579 |
403 | L>I | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000562266 rs1260247042 RCV000527107 CA406978589 |
404 | P>L | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA406978586 rs1601206330 RCV001010336 |
404 | P>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555790585 RCV003117729 RCV001055852 |
405 | Y>* | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA406978610 rs1397545786 RCV001370046 RCV001010390 |
407 | I>M | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA406978605 RCV000804039 rs1601206367 |
407 | I>V | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000542131 CA406978615 rs1433696636 RCV000985920 RCV001010411 |
408 | S>C | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA406978617 RCV001010423 rs778135510 RCV000820526 |
409 | R>G | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs749611798 RCV001010431 RCV000702054 CA406978618 |
409 | R>P | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs749611798 CA9596065 RCV000233951 RCV000487134 RCV000568088 |
409 | R>Q | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001755960 RCV000570290 RCV000645832 CA9596064 rs778135510 |
409 | R>W | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000704898 RCV001010442 CA406978620 rs1568623137 |
410 | A>T | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002360597 CA9596066 RCV001571160 rs771349646 RCV000645787 |
411 | Q>H | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA16616131 RCV000569155 RCV000679475 RCV000460036 rs1038164521 |
412 | T>A | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001860639 CA406978635 rs774993483 RCV001010481 |
412 | T>I | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA406978643 RCV000605113 rs1555790592 RCV001854145 |
414 | K>E | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001236849 rs2038870803 |
415 | V>A | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000531972 CA406979666 rs1555791076 RCV002384178 |
415 | V>I | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001219459 rs1555791079 |
417 | T>I | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000563226 CA406979707 rs1555791079 |
417 | T>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2038871423 RCV001247537 |
418 | F>L | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1568626065 CA406979761 RCV000695850 |
423 | R>C | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000563416 CA9596096 COSM1221434 RCV000552624 COSM1221435 rs199576140 RCV002293453 |
423 | R>H | large_intestine Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001045280 rs1315928771 CA406979766 RCV000571312 |
424 | V>L | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002549322 rs1315928771 RCV001010656 CA406979765 |
424 | V>M | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA406979774 rs1555791090 RCV000645819 |
425 | A>G | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1027677934 RCV000645844 RCV001010689 CA309601751 |
425 | A>S | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1060501840 CA16616132 RCV000563063 RCV000467594 |
426 | G>S | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs546554950 RCV000807683 CA9596099 RCV000561845 |
430 | N>S | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs752444746 RCV001313810 |
431 | I>F | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA406979811 RCV001010800 rs1601215392 |
431 | I>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000645834 RCV000764218 CA9596100 RCV001591338 rs752444746 RCV000576076 |
431 | I>V | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000462290 CA16616363 rs774130423 RCV000764219 RCV001010805 |
432 | R>G | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001577805 rs139557851 RCV000505927 RCV000228917 RCV000563603 CA9596103 |
432 | R>Q | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001010806 CA9596102 COSM254899 rs774130423 COSM163604 RCV000475830 |
432 | R>W | Hereditary cancer-predisposing syndrome urinary_tract Colorectal cancer, susceptibility to, 10 breast [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003165619 RCV000231903 rs767560532 CA10583825 |
433 | D>A | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1555791103 CA406979816 RCV000645876 |
433 | D>N | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001309129 RCV003105969 CA309601752 RCV000565592 rs767560532 |
433 | D>V | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001010862 rs1060501845 RCV000467756 CA16616127 |
434 | S>C | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001303259 rs1060501845 RCV002384367 |
434 | S>F | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555791118 RCV000531173 CA406979845 |
437 | Q>R | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs758977084 RCV000645810 RCV001010957 CA9596104 |
439 | K>N | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000457885 rs1060501841 CA16616372 |
440 | Q>* | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA9596105 RCV001010990 rs780771892 RCV001050552 |
440 | Q>H | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA406979869 RCV001759690 RCV001011005 rs1601215588 |
441 | T>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs376711125 RCV000575300 COSM1395456 RCV000764220 RCV000480965 CA9596106 RCV002267982 COSM1395457 RCV000226871 |
441 | T>M | large_intestine Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002379899 RCV001819933 rs1601215588 RCV001235801 |
441 | T>S | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA406979878 RCV000705680 rs1568626243 |
443 | R>G | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000810930 CA406979880 rs1601215673 |
443 | R>Q | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs201503929 RCV000645847 CA309601753 RCV000565011 RCV001785665 |
444 | R>Q | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes TOPMed dbSNP |
|
RCV001203531 rs2038876135 |
447 | K>E | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs748429803 RCV001223552 CA9596109 |
448 | V>I | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs2038876608 RCV001244919 |
449 | V>I | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2038876789 RCV001041708 |
450 | S>R | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1045252366 CA309601754 RCV000818744 RCV002381850 |
450 | S>R | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001011033 CA406979929 rs1601215798 |
451 | M>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001318947 rs2038877063 |
452 | V>A | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1601215811 CA406979936 RCV000799136 |
452 | V>M | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA406979944 rs1555791139 RCV000645788 |
453 | G>R | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2038877419 RCV001305705 |
454 | R>missing | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002384179 RCV000759930 rs906743894 RCV000545910 CA309601756 |
454 | R>C | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Colorectal cancer, susceptibility to, 10 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs906743894 RCV001238652 |
454 | R>G | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000569948 rs1004124075 CA309601757 RCV000560874 |
454 | R>H | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Colorectal cancer, susceptibility to, 10 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
rs906743894 RCV001011176 RCV001365088 CA406979947 |
454 | R>S | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000764221 CA9596112 RCV000469418 RCV000570540 rs762670703 RCV000487202 |
455 | V>M | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA406979957 RCV000562598 RCV001858334 rs878854520 |
456 | Q>* | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs878854520 RCV001011064 RCV002500778 CA10583826 RCV000232435 |
456 | Q>E | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1157114471 RCV001284040 CA406979959 RCV000799753 RCV000571009 |
456 | Q>L | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001011238 RCV002384180 CA406979968 rs1457008478 RCV000530112 CA406979970 |
457 | M>I | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2038878765 RCV001300326 |
458 | D>E | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002384405 rs774331018 |
459 | M>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001011246 CA915951933 rs1601216017 |
459 | M>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000543995 RCV002384181 rs774331018 CA9596114 |
459 | M>V | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000564045 rs1555791146 CA406979990 |
460 | L>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555791146 RCV001062952 |
460 | L>R | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000558655 rs1555791147 CA406979996 |
461 | Q>R | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001347058 RCV001011279 rs1601216575 CA406980015 |
462 | V>G | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000801809 CA406980011 rs759504885 RCV000563151 |
462 | V>M | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1601216589 CA406980016 RCV000803248 |
463 | L>M | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001853790 CA9596135 rs199700312 RCV000568522 |
465 | R>Q | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs771858429 CA9596134 RCV000547451 |
465 | R>W | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1555791173 RCV001322033 |
466 | E>D | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060501851 RCV001731693 RCV000466531 CA16616143 RCV002393115 |
467 | Y>C | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000473697 CA16616364 RCV000481954 rs1004191319 RCV000566416 |
468 | K>R | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs2038885561 RCV001059552 RCV002393288 |
469 | L>F | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000794715 rs1601216694 |
470 | R>missing | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA406980060 RCV001011431 rs1601216709 |
470 | R>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001053024 rs1325345561 CA406980067 |
471 | S>F | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001224605 RCV002393551 rs2038886050 |
473 | T>M | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000133512 VAR_071966 rs587777627 RCV000568467 CA170564 |
474 | L>P | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 CRCS10 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001242200 RCV000485430 rs1064794896 RCV002395162 CA16620890 |
475 | N>S | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002388255 rs766881510 RCV000694483 CA406980150 |
477 | V>L | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000645770 CA9596140 RCV001011537 rs766881510 RCV002260654 |
477 | V>M | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001358647 RCV000033142 CA130715 rs397514632 VAR_069335 |
478 | S>N | Variant assessed as Somatic; impact. Colorectal cancer, susceptibility to, 10 CRCS10; associated with disease susceptibility [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
RCV001061912 rs2038887063 |
479 | F>V | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2038887146 RCV001312802 |
480 | H>Y | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA406980216 RCV001011620 rs1601216866 RCV001210371 |
482 | L>Q | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1426671575 RCV000792057 CA406980225 RCV001011653 |
484 | E>K | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001853739 rs1555791207 RCV000571240 |
486 | K>missing | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001011669 CA16616373 rs527486070 RCV000474880 |
486 | K>E | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1374013475 RCV000688721 RCV000568114 CA406980260 |
488 | D>G | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2038888710 RCV001213227 |
488 | D>N | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001222029 rs2038888710 |
488 | D>Y | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000569436 RCV000475904 CA9596144 rs753244422 RCV000481942 |
489 | V>M | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2038889148 RCV001053682 |
490 | Q>* | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA406980273 rs1283947674 RCV000695440 |
490 | Q>R | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001322531 RCV003166876 rs2038889765 |
491 | H>Q | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1381049004 RCV000564393 CA406980279 |
491 | H>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001071836 rs2038889864 RCV002393346 |
492 | S>G | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001210989 rs2038889952 |
492 | S>I | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002388300 RCV000699425 CA406980292 rs1568626807 |
492 | S>R | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA406980305 RCV001011807 RCV001787122 rs1601217092 |
494 | I>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555791217 RCV000574795 |
495 | T>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2038890600 RCV002395784 RCV001352340 |
495 | T>S | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs777809352 RCV000568173 RCV002528157 CA9596146 |
496 | D>H | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA406980313 rs777809352 RCV000822065 RCV003159167 RCV001011823 |
496 | D>N | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002249513 CA406980327 RCV000797544 rs1240526196 |
498 | Q>* | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001058737 rs2038910972 |
500 | G>E | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000819825 CA406980753 RCV002390685 rs1379407250 |
501 | N>H | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000551345 rs1555791323 |
502 | D>missing | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA9596165 RCV001360908 rs753870010 RCV000566171 |
502 | D>E | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000525373 RCV003105953 RCV000567025 rs1313176102 CA406980764 |
502 | D>G | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000463446 RCV001821338 rs777866589 RCV001548282 RCV000570214 CA9596164 |
502 | D>N | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1060501850 RCV000475067 |
503 | Q>missing | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA406980768 RCV000573348 rs1555791331 RCV001853740 |
503 | Q>E | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000540090 CA406980778 rs1555791333 |
504 | T>I | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001011978 CA406980783 COSM1681235 rs1271321739 COSM1681236 RCV000686431 |
505 | R>C | large_intestine Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
CA16616376 RCV001011981 RCV000456862 rs1043752384 |
505 | R>H | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000764222 rs528292347 RCV000796666 RCV000565810 CA9596166 |
506 | R>C | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs528292347 RCV001215457 |
506 | R>G | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs140379348 RCV000985923 RCV000574478 RCV000610546 RCV000227201 CA9596167 |
506 | R>H | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA10583829 rs878854523 RCV000231164 |
507 | R>C | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1555791351 CA406980810 RCV000645824 RCV002397254 |
510 | V>A | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA406980809 rs1555791351 RCV001012027 |
510 | V>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000570915 RCV000555106 CA406980806 rs1555791349 |
510 | V>M | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001061512 rs2038914541 |
511 | Y>F | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000806283 CA406980813 rs1601219118 |
511 | Y>H | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001012082 RCV001326371 CA406980825 rs373380580 |
512 | C>* | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV000459140 RCV000480503 rs1060501815 CA16616374 |
512 | C>R | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs746086672 RCV001012086 RCV001860694 CA9596168 |
513 | L>V | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1169141963 RCV000645886 CA406980841 |
515 | D>N | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA9596174 rs776293311 RCV001056202 RCV002400320 |
517 | Y>C | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002402255 rs1060501843 CA16616130 RCV000456183 |
517 | Y>H | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs149043082 RCV000566097 RCV000657132 RCV000528834 CA9596176 RCV000483221 |
518 | L>M | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001216500 rs1601219285 |
519 | P>A | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000824460 rs1601219285 CA406980862 RCV003169061 |
519 | P>S | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs143076166 RCV000657104 RCV002267983 RCV000574111 RCV000234172 RCV000590937 CA9596178 |
521 | R>Q | Hereditary cancer-predisposing syndrome Colorectal cancer Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1341055535 RCV000539274 RCV001012187 RCV003114670 CA406980870 |
521 | R>W | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001317944 CA9596180 rs201804732 |
525 | R>G | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA9596181 rs372190244 RCV001012220 RCV002491066 RCV001591246 RCV000531499 |
525 | R>Q | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA9596179 RCV000759936 RCV000614228 rs201804732 RCV000573205 RCV000554030 |
525 | R>W | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001239006 rs2038919195 |
527 | M>T | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA9596184 rs765276497 RCV000564396 RCV001311899 RCV000464450 |
532 | A>T | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs758602573 RCV000804751 CA406980938 |
533 | V>L | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs758602573 RCV000230708 CA9596186 RCV001012356 |
533 | V>M | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001218330 RCV002402653 RCV001858338 CA406980958 RCV000563591 rs1555791404 |
535 | M>I | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM1242684 RCV002402252 RCV003133270 RCV000466076 CA9596187 rs779735891 RCV000486246 COSM1242683 |
536 | A>V | oesophagus Hereditary cancer-predisposing syndrome Mandibular hypoplasia-deafness-progeroid syndrome Colorectal cancer, susceptibility to, 10 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000562462 CA406980968 RCV000700241 rs1555791415 |
537 | R>T | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2038920752 RCV001325763 |
538 | V>I | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555791424 RCV000574567 RCV001232329 CA406980979 |
539 | T>A | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA406980987 RCV000801265 rs1601219675 |
540 | G>A | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA406980985 rs1601219662 RCV001012436 RCV001295884 |
540 | G>C | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000824439 CA406980983 rs1601219662 |
540 | G>S | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002402910 RCV001325012 CA9596190 rs769479614 |
541 | V>L | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000818136 RCV002397706 CA406980990 rs769479614 |
541 | V>M | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2038922133 RCV001051341 RCV003160402 |
544 | S>G | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2038922133 RCV001060392 |
544 | S>R | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002402463 rs2038922326 RCV001068109 |
545 | Y>C | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1263352176 RCV003169630 CA406981023 RCV001341898 |
546 | L>V | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000530432 CA406981031 rs1555791435 |
547 | L>P | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000545454 rs775734510 CA9596194 |
549 | R>C | Variant assessed as Somatic; 0.0 impact. Colorectal cancer, susceptibility to, 10 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000234700 RCV002288921 rs201038430 CA9596195 |
549 | R>H | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001246046 rs775734510 |
549 | R>S | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16616149 RCV000469197 RCV002402253 rs1060501822 |
553 | V>A | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002404492 RCV000560136 CA406981067 rs1213970824 |
553 | V>I | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs2038923676 RCV001071391 RCV002402485 |
554 | K>missing | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001193677 COSM999688 RCV000232098 CA9596198 COSM999687 RCV001546960 rs762273084 |
556 | V>I | Variant assessed as Somatic; 4.718e-05 impact. endometrium Colorectal cancer, susceptibility to, 10 [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA406981091 RCV000697964 rs1215760107 |
557 | S>A | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA406981096 RCV002395716 RCV001324920 rs1239843769 |
557 | S>F | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001302485 rs2038924448 |
558 | Q>E | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001552583 rs750466994 CA9596200 RCV000693424 |
561 | R>Q | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs368738479 RCV000534183 CA9596199 RCV000679481 |
561 | R>W | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA406981124 RCV001039370 rs1160190395 |
562 | Q>R | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002413387 RCV000506717 RCV001755752 rs748444470 CA9596233 RCV000544407 |
564 | M>R | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs748444470 RCV001214655 |
564 | M>T | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA406981181 RCV000699130 rs1452632059 RCV003163231 |
565 | H>P | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000823862 rs773826187 CA9596235 RCV002397740 |
565 | H>Y | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA406981188 rs1601220963 RCV000813922 |
566 | E>A | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000465945 CA9596237 RCV000608483 RCV000759214 RCV003168787 rs372429157 |
566 | E>K | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1601220977 RCV000817503 CA406981198 |
567 | G>V | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000807797 CA9596241 rs775434361 |
572 | V>M | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000764223 CA9596242 rs760616076 RCV000534400 |
573 | V>L | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1382017039 RCV000818517 CA406981240 |
575 | S>T | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001206267 rs2038934642 |
576 | E>missing | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA406981256 rs1181610918 RCV001307129 |
577 | G>D | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001233503 RCV002269351 rs2038934806 |
577 | G>S | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000468409 rs1060501856 |
578 | G>missing | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000706047 RCV003165916 CA9596244 rs753850419 |
578 | G>S | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1354117345 RCV001217097 |
579 | E>* | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002404616 RCV000799439 rs1354117345 RCV000601615 CA406981264 |
579 | E>K | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
COSM999690 RCV000462303 RCV000519617 COSM999691 CA9596246 rs547831370 |
582 | T>M | Variant assessed as Somatic; 0.0 impact. endometrium Colorectal cancer, susceptibility to, 10 [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001012990 rs1601221227 |
583 | G>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1601221294 RCV000823618 CA406981339 RCV001816910 |
586 | V>I | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002411458 CA16616379 rs1060501838 RCV000468086 RCV001764405 |
587 | I>F | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000759217 rs746649739 CA9596249 RCV002413327 RCV000707105 |
588 | E>K | Variant assessed as Somatic; 9.801e-05 impact. Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA10583832 RCV000226607 rs878854526 |
590 | L>F | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000816866 CA406981407 rs1601221398 |
591 | K>R | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001338509 rs1601221398 |
591 | K>T | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555791532 RCV000662478 |
592 | G>missing | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000689394 rs1568628557 CA406981419 CA406981417 RCV000686640 RCV002397369 |
592 | G>R | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001234289 rs769563176 |
595 | D>E | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs200864923 RCV000458283 RCV002402251 CA9596282 |
595 | D>N | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000476043 rs773180520 RCV000480181 CA16616381 COSM1395461 RCV000657102 COSM1395460 |
596 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine Colorectal cancer, susceptibility to, 10 [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs773180520 RCV000469019 CA9596284 |
596 | V>L | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2038989619 RCV001066659 |
597 | P>R | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2038989534 RCV001058916 RCV001772278 |
597 | P>S | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2038989905 RCV001241095 |
598 | I>T | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs368349780 RCV000524782 COSM999694 CA309602008 COSM999693 |
598 | I>V | Variant assessed as Somatic; impact. endometrium Colorectal cancer, susceptibility to, 10 [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP NCI-TCGA dbSNP |
|
rs149569984 CA348064 RCV002267941 RCV000990260 RCV000657095 RCV000664281 |
599 | A>T | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002411454 rs1060501810 RCV000458767 CA16616150 |
600 | T>I | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002406416 RCV000645891 rs1555791780 CA406982000 |
604 | S>A | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA406982001 rs1060501807 RCV000816351 |
604 | S>F | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA16616384 rs1060501807 RCV002506119 RCV000475969 |
604 | S>Y | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000567311 RCV000484962 rs398122386 RCV001052191 RCV000054542 |
605 | S>missing | Mandibular hypoplasia-deafness-progeroid syndrome Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_070231 | 605 | S>del | MDPL; the mutant enzyme lacks DNA polymerase ability; has decreased exonuclease activity; can bind DNA but is unable to interact with and incorporate dNTPs [UniProt] | Yes | UniProt |
|
RCV000688430 rs1568630225 CA406982009 |
606 | L>M | Variant assessed as Somatic; impact. Colorectal cancer, susceptibility to, 10 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1237089094 RCV000700424 CA406982059 |
613 | A>T | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000532882 CA406982067 rs1555791790 |
614 | H>L | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA406982069 rs1555791790 RCV000706306 RCV003165922 |
614 | H>R | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs144277999 CA9596292 RCV001223018 RCV002411823 |
614 | H>Y | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV001307673 rs2038992310 |
617 | C>G | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001347164 rs758923483 CA9596293 |
619 | T>A | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1309243644 CA406982110 RCV002413570 RCV000543233 |
620 | T>M | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001321271 rs1309243644 RCV003166860 |
620 | T>R | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA9596297 RCV000533107 RCV003168954 rs781327088 RCV000485581 |
623 | R>Q | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001284042 RCV003159854 RCV000553539 RCV000764224 rs768773535 CA9596296 |
623 | R>W | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs2038993528 RCV001349475 |
624 | P>A | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1568630394 CA406982135 RCV000686516 |
625 | G>A | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000458497 CA16616386 RCV001653827 rs1060501836 RCV002411457 |
625 | G>R | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000471126 rs1060501842 CA16616152 |
626 | T>I | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001222871 rs1297363872 CA406982150 |
628 | Q>* | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000820423 CA406982152 RCV002408975 rs1436409342 |
628 | Q>R | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA9596300 RCV002406414 rs772953240 RCV000645806 |
629 | K>I | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000705722 RCV002406646 rs1568630445 |
630 | L>missing | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA406982171 rs1568630464 RCV000702615 |
631 | G>D | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000645827 rs1555791808 RCV002406415 CA406982170 |
631 | G>S | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000645829 rs1555791840 CA406982191 |
633 | T>A | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000645780 CA406982199 rs1236887089 RCV001731839 RCV002406412 |
634 | E>A | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA309602034 RCV002255604 RCV003223687 RCV001035703 rs201318456 |
635 | D>V | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP |
|
RCV000689612 rs1347751192 CA406982215 |
636 | Q>R | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002409413 RCV001047219 rs2039003508 |
638 | I>M | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2039003436 RCV001301166 |
638 | I>S | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1601226437 RCV000821225 CA406982236 |
639 | R>K | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA406982240 RCV000645777 rs1334171687 |
639 | R>S | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002507106 RCV000759221 CA9596324 RCV000645808 rs201212113 |
640 | T>A | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000467833 rs771527077 RCV002411453 RCV001770329 CA9596325 |
640 | T>N | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000794974 rs1601226505 |
642 | T>missing | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2039004032 RCV001323709 |
642 | T>missing | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10583835 RCV000227255 rs878854529 RCV002408968 |
642 | T>S | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2039004596 RCV001306964 |
643 | G>E | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs142361709 RCV000816972 CA9596329 RCV001597219 |
643 | G>R | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP |
|
RCV002549392 RCV001013636 rs1601226563 |
644 | D>missing | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001084210 RCV000645856 RCV000436158 rs80214209 CA9596332 CA406982265 RCV000759222 |
644 | D>E | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA9596330 RCV002256264 RCV002268073 rs763465385 RCV000476279 RCV000764225 RCV000479873 |
644 | D>N | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002406806 CA406982271 rs1328053279 RCV000808108 |
645 | E>G | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002413571 rs1161281976 CA406982266 RCV000558260 |
645 | E>K | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV001070942 rs767518281 RCV002411616 CA406982277 |
646 | F>S | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002411455 RCV000470061 RCV000485529 CA9596334 rs767518281 |
646 | F>Y | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001219450 rs2039005608 |
647 | V>M | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2039005725 RCV001340830 |
648 | K>missing | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA9596335 rs146228659 RCV000693244 RCV002406581 |
649 | T>P | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP |
|
CA406982306 rs1431495856 RCV000816789 |
651 | V>M | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000759223 RCV000227915 RCV000601623 rs778037523 CA9596337 |
652 | R>Q | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA406982313 RCV000815796 rs756335769 |
652 | R>W | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV003159855 CA406982322 rs1443432312 RCV000547058 |
653 | K>N | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs2039006469 RCV001347421 |
654 | G>V | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555791873 CA406982342 RCV000535777 |
657 | P>S | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA406982361 RCV000807701 rs1601226743 |
660 | L>M | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000230750 CA10583836 rs878854530 |
662 | N>K | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000234312 rs878854531 RCV003165621 CA10583837 |
665 | S>G | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002420475 RCV000550676 rs757053149 CA9596339 |
665 | S>N | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001066863 rs2039008005 |
669 | R>G | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA406982442 rs1555791976 RCV000645772 |
670 | A>V | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1430515236 CA406982446 RCV001207515 |
671 | K>R | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000203677 CA347969 RCV000236689 rs61751955 RCV001818504 RCV000564370 |
673 | E>K | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA406982466 rs1568631336 RCV000704052 |
674 | L>P | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs753870000 RCV000821446 CA9596371 RCV002415931 |
675 | A>S | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA406982468 RCV000533711 rs753870000 |
675 | A>T | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000690527 rs1568631367 CA406982493 RCV003163148 |
678 | T>I | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001209268 rs1283059353 CA406982500 |
679 | D>E | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA406982504 rs1555791989 RCV003159856 RCV000541883 |
680 | P>A | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA9596373 RCV003168792 RCV001799661 RCV000464867 rs765557862 |
680 | P>L | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1419624611 RCV001071420 |
681 | L>missing | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000474122 RCV001764401 CA9596374 rs750594314 |
681 | L>V | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA406982514 RCV000794938 rs773665739 |
682 | R>L | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
COSM1190127 RCV002418376 CA9596377 RCV000468664 rs773665739 RCV001770330 COSM1190126 RCV001355494 |
682 | R>Q | lung Carcinoma of colon Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000228818 rs758260006 RCV001578146 CA9596376 |
682 | R>W | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs763446793 RCV000796355 CA309602105 |
683 | R>C | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000759226 rs754913337 CA309602106 RCV000690216 |
683 | R>H | Variant assessed as Somatic; 0.0 impact. Colorectal cancer, susceptibility to, 10 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000797305 RCV003166153 rs754913337 CA9596378 |
683 | R>L | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA9596379 RCV000231655 RCV000564986 RCV000485931 RCV000709587 rs144143245 RCV001449564 RCV000679487 |
684 | Q>H | Familial colorectal cancer Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000473890 RCV000482767 rs146530638 CA9596382 |
689 | R>Q | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000508494 CA9596381 COSM1681237 COSM1681238 RCV000811136 rs747628342 |
689 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine Colorectal cancer, susceptibility to, 10 [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs2039021984 RCV001050734 RCV002416383 |
691 | L>V | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2039022097 RCV001760164 RCV001204121 |
692 | A>V | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1051419059 CA16620893 RCV000645851 RCV000483965 |
695 | V>M | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1555792012 CA406982608 RCV000645775 |
698 | N>S | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2039022977 RCV001321253 |
700 | V>A | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM999703 RCV000645872 COSM999702 rs868562435 CA309602115 |
700 | V>I | endometrium Colorectal cancer, susceptibility to, 10 Variant assessed as Somatic; 4.625e-05 impact. [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
CA406982659 rs1363178844 RCV001210272 |
706 | A>S | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA406982657 rs1363178844 RCV000687845 |
706 | A>T | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA406982673 RCV000540974 rs1555792019 |
708 | V>G | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060501847 RCV000791486 CA406982671 |
708 | V>L | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16616387 RCV001770331 RCV000475803 RCV002418377 rs1060501847 |
708 | V>M | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs750694968 RCV000806319 CA9596391 |
713 | C>S | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs369988982 CA9596392 RCV000483003 RCV000552458 |
715 | E>K | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
rs2039024706 RCV001227093 |
717 | S>P | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM3723131 rs1042614681 RCV001218023 CA309604329 COSM98038 RCV002429926 |
720 | V>I | upper_aerodigestive_tract Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Colorectal cancer, susceptibility to, 10 [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
rs2039156923 RCV001071401 |
721 | T>missing | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1568634881 RCV000691829 |
723 | F>missing | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10583839 RCV000226305 rs878854532 |
725 | R>C | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002427502 rs2039157646 RCV001040229 |
725 | R>H | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs747483140 CA9596436 RCV000657093 RCV000467566 RCV002268013 |
726 | Q>H | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001313976 rs2039157813 |
726 | Q>R | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2039158030 RCV001065968 |
728 | I>L | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs868099791 RCV002430116 RCV001306952 |
728 | I>M | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060501804 CA16616157 RCV000471418 |
729 | E>G | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000506140 RCV000679001 RCV000456753 CA9596437 RCV001584184 rs200931999 |
729 | E>K | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs200931999 RCV000795702 CA406983556 |
729 | E>Q | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000473708 RCV003105912 rs1060501853 RCV003168795 CA16616388 |
730 | K>Q | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000764226 rs1471359934 RCV000695813 CA406983615 RCV002532332 |
733 | Q>E | Colorectal cancer, susceptibility to, 10 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA309604339 RCV001226006 rs868025188 |
735 | V>M | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002431646 CA406983648 rs1555792546 RCV000530059 |
736 | E>K | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA406983665 rs1555792551 RCV000645871 |
737 | S>P | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2039159849 RCV001220528 |
738 | K>* | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001236238 CA406983679 rs1457064979 |
738 | K>Q | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2039160071 RCV001057105 |
738 | K>R | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA9596440 rs781629170 RCV000544962 RCV002431647 |
740 | T>A | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000702441 RCV002424692 rs781629170 CA406983711 |
740 | T>P | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001199147 rs2039160475 |
741 | V>M | Mandibular hypoplasia-deafness-progeroid syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000472122 rs752937018 CA9596441 |
742 | E>K | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA309604343 RCV000559763 RCV002431648 rs752937018 |
742 | E>Q | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA406983744 rs1568635044 RCV000702824 |
742 | E>V | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001216776 RCV001751406 CA309604345 rs997563069 |
743 | N>S | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000699851 rs997563069 CA406983754 |
743 | N>T | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001046269 rs1555792558 |
744 | G>A | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002424479 RCV000645855 rs1555792558 CA406983769 |
744 | G>D | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001208548 rs2039161284 |
745 | Y>C | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000687976 rs1568635090 CA406983793 |
746 | S>G | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1601237658 RCV000795279 RCV001014876 |
747 | T>missing | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10583840 rs878854533 RCV000230131 |
750 | K>E | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000679493 RCV001269368 RCV000217194 COSM3692994 CA350683 rs145473716 RCV000206687 RCV000210771 COSM3692995 |
759 | V>I | large_intestine Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000797379 CA406984043 rs1601238533 |
760 | M>I | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs769650989 RCV000692252 RCV001015059 RCV000657763 CA9596472 |
762 | R>* | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA9596473 COSM1712631 RCV000233094 RCV000236894 COSM1712630 rs760638243 |
762 | R>Q | skin Colorectal cancer, susceptibility to, 10 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1601238541 RCV001015058 |
762 | R>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA309604453 rs879497930 RCV002445370 RCV001071730 |
764 | G>D | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs148838746 RCV000562777 CA9596475 RCV000226941 RCV000484422 RCV000764227 |
764 | G>S | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA406984072 RCV000645835 rs1555792660 |
765 | V>G | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000797350 CA406984070 rs759190487 |
765 | V>L | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000231051 RCV000485228 CA9596477 rs759190487 RCV002267984 |
765 | V>M | Colorectal cancer, susceptibility to, 10 Variant assessed as Somatic; 4.852e-05 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000805603 rs556196668 CA9596478 RCV002446935 RCV000485295 |
767 | S>L | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000535256 rs1555792662 |
768 | V>missing | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001220546 rs2039176601 |
769 | A>S | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1064794537 RCV000478497 RCV000801743 |
770 | E>missing | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA406984125 rs1601238697 RCV000792886 |
770 | E>D | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs139235742 RCV000798915 CA9596480 RCV002537104 |
771 | A>V | Variant assessed as Somatic; 0.0 impact. Colorectal cancer, susceptibility to, 10 Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs750956986 CA9596481 RCV000805785 RCV001759541 |
772 | M>I | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000703918 rs1568635644 |
773 | A>missing | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA9596482 rs753865441 RCV000232792 RCV000482798 RCV001251336 |
773 | A>T | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002442473 RCV000985927 rs765390600 RCV000696340 CA309604474 |
773 | A>V | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA406984169 RCV003159857 RCV000525156 rs1197236198 |
774 | L>V | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs2039177835 RCV001056744 |
775 | G>R | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA9596484 RCV000230451 rs141801845 RCV001355034 RCV001292749 |
776 | R>Q | Mandibular hypoplasia-deafness-progeroid syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000664282 rs780138978 RCV000657108 RCV000481293 RCV000227620 CA9596483 |
776 | R>W | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs755163951 RCV000795837 CA406984206 CA9596485 |
777 | E>D | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA9596486 RCV002455873 RCV000464130 rs541483366 |
778 | A>V | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000806056 RCV002453805 rs747996611 CA9596487 |
779 | A>T | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1410087763 RCV002451498 RCV001218956 |
779 | A>V | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA9596489 RCV002446810 rs572055425 RCV000470834 |
780 | D>E | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA406984229 RCV000645773 rs1064795184 RCV001556927 RCV002449047 |
780 | D>N | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA16620896 RCV000486951 RCV000807773 rs1064795184 RCV002446932 |
780 | D>Y | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA406984253 RCV002473089 RCV000645790 rs1434951609 |
781 | W>L | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA16616161 RCV000475864 rs1060501846 |
782 | V>A | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001766713 RCV000815252 rs1601238938 |
783 | S>missing | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA9596490 RCV000692585 rs749227042 |
784 | G>D | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs770368541 CA9596491 RCV001222602 |
785 | H>N | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA9596492 VAR_069336 rs199783227 RCV000235244 RCV000705985 COSM192153 |
787 | P>L | large_intestine Colorectal cancer, susceptibility to, 10 Variant assessed as Somatic; 0.0001905 impact. found in a colorectal sample; somatic mutation [Cosmic, ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000645781 rs199783227 CA406984327 |
787 | P>Q | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA309604496 rs866494171 RCV000645767 |
788 | S>L | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA406984368 RCV002455971 rs1174011798 RCV000499456 RCV000690840 |
791 | R>Q | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002451025 RCV000817907 rs1057522945 RCV000435445 CA16608362 |
791 | R>W | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Colorectal cancer, susceptibility to, 10 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV002445332 rs2039181854 RCV001064123 |
793 | E>D | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000539021 rs1555792697 CA406984386 |
793 | E>Q | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060501806 CA16616164 RCV000467790 RCV000759945 |
796 | K>N | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs878854535 CA10583841 RCV000230550 RCV002450687 RCV001770196 |
799 | F>L | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2039213620 RCV001217535 |
801 | Y>missing | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2039213973 RCV001310048 |
803 | L>I | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001316287 rs2039214128 |
805 | S>N | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA309604750 RCV000551873 rs996697515 |
805 | S>R | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001047642 rs2039214128 |
805 | S>T | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs771700024 VAR_069337 CA9596513 RCV000811925 COSM192154 |
808 | R>H | large_intestine Colorectal cancer, susceptibility to, 10 found in a colorectal sample; somatic mutation [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV001015494 rs775317882 RCV000687108 CA406984667 RCV000791972 CA406984670 |
809 | Y>* | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
rs2039214598 RCV001247909 |
810 | A>missing | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs765981178 RCV000645890 CA309604762 |
810 | A>E | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
RCV000530312 rs760358465 CA9596518 |
810 | A>S | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs760358465 RCV000232510 RCV001589182 CA9596517 |
810 | A>T | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000567249 RCV000781762 RCV000471609 RCV001653828 CA9596519 rs765981178 |
810 | A>V | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
rs1555792827 RCV000568628 |
811 | G>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2039215653 RCV001051626 RCV001535805 |
812 | L>M | Familial colorectal cancer Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2039215991 RCV001244924 |
813 | L>F | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1568636746 RCV000688942 |
814 | F>missing | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001303053 rs1199740511 |
815 | S>A | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000689031 rs1568636835 CA891844276 |
815 | S>L | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA406984737 rs1199740511 RCV001054699 |
815 | S>P | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1555792834 CA406984753 RCV000559123 |
816 | S>F | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs763850764 RCV001572009 RCV000562891 RCV000474703 |
816 | S>missing | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs148176230 RCV000709589 CA16616391 RCV002446809 RCV000460512 |
817 | R>G | Familial colorectal cancer Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000466517 COSM3797403 rs142017093 COSM3797402 CA9596528 |
817 | R>Q | Variant assessed as Somatic; 4.649e-05 impact. urinary_tract Colorectal cancer, susceptibility to, 10 [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000686559 rs148176230 RCV002245587 CA9596527 RCV002424588 |
817 | R>W | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001210551 rs2039217210 |
818 | P>T | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000645831 rs1555792829 |
819 | D>missing | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001227443 rs2039217374 |
819 | D>missing | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs372947760 RCV000815651 CA406984782 |
819 | D>H | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA9596531 RCV001591247 RCV003159858 rs372947760 RCV000537584 |
819 | D>N | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1601241057 RCV002445235 RCV001042163 |
819 | D>V | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA406984796 RCV002448731 RCV000559339 rs753609023 |
820 | A>S | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
RCV003153713 RCV000549076 RCV001535544 rs753609023 CA9596533 |
820 | A>T | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
CA406984804 RCV000687459 rs1568636923 |
820 | A>V | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000457683 rs1555792840 |
821 | H>missing | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002458265 RCV000698023 rs150607556 RCV001325231 CA406984817 RCV002456453 |
821 | H>Q | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
rs2039218202 RCV002456481 RCV001341560 |
821 | H>Y | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1601241150 RCV001015620 |
822 | D>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA9596536 RCV002451106 rs778972543 RCV000460276 |
822 | D>N | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002268231 RCV000645814 rs751309893 |
823 | R>missing | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA9596537 RCV000473811 RCV000481683 RCV000764228 rs376946722 |
823 | R>C | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA9596538 RCV000818180 rs771734704 COSM999712 COSM999711 RCV003128729 |
823 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium Colorectal cancer, susceptibility to, 10 [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000456995 RCV000758171 CA16616166 rs771734704 |
823 | R>L | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001860793 RCV001015455 rs1601241185 |
824 | M>missing | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs779675467 RCV001050846 |
824 | M>L | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001535490 RCV001547195 RCV000226463 rs779675467 RCV003165622 CA9596539 |
824 | M>V | Familial colorectal cancer Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs973646375 RCV001056548 CA406985073 |
825 | D>E | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001036518 rs2039219713 |
830 | E>missing | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001325556 rs2039219801 |
830 | E>V | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2039220226 RCV001229218 |
833 | R>C | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA406985124 rs1601241246 RCV000816119 |
833 | R>L | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001322476 rs1555792872 |
836 | N>I | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555792872 RCV002431649 RCV000548201 CA406985146 |
836 | N>S | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000645883 rs1555792877 CA406985153 |
837 | C>Y | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003162930 rs1555792878 RCV000645880 CA406985163 |
838 | P>L | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs878854538 RCV002429109 RCV000229171 CA10583844 |
839 | L>I | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2039221586 RCV001059464 |
840 | V>missing | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000759947 rs763443242 CA9596543 RCV000551806 RCV002431651 |
840 | V>M | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001236127 rs2039221918 |
844 | V>I | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10583845 RCV000233155 rs878854539 |
846 | A>V | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001212020 rs1555792888 |
848 | L>M | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs759987234 RCV002268264 RCV000759949 RCV000704716 CA9596546 |
849 | R>C | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000204415 VAR_019344 RCV002503812 rs3218775 CA348642 RCV001356421 RCV000419079 RCV000586316 RCV000562311 |
849 | R>H | Carcinoma of colon Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs760898812 RCV000235805 CA9596548 RCV000465875 |
850 | R>C | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000759950 CA9596549 RCV000226005 rs764432550 RCV002267985 |
850 | R>H | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA406985230 rs1555792892 RCV000539416 |
851 | L>P | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs746579020 RCV001212914 |
854 | D>E | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001045538 rs373650022 RCV002429608 CA406985244 RCV001772246 |
854 | D>H | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000480703 RCV002518332 RCV000229984 rs373650022 CA9596554 |
854 | D>N | Colorectal cancer, susceptibility to, 10 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs373650022 RCV000232699 RCV000679497 CA9596555 |
854 | D>Y | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000657755 RCV000566422 RCV000473508 CA9596557 rs768048535 RCV000764229 |
855 | R>* | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000465249 RCV001284207 rs768048535 CA9596558 |
855 | R>G | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001555772 rs868847470 RCV000231143 CA9596559 |
855 | R>L | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs868847470 CA9596560 RCV000705768 RCV001565028 |
855 | R>Q | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs2039243261 RCV001235836 |
856 | D>E | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002274079 CA9596590 RCV000645783 rs776013537 |
857 | P>L | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000814069 CA406985286 rs1601242896 |
858 | E>* | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16616393 rs1060501820 RCV000457858 RCV002470859 |
858 | E>D | Mandibular hypoplasia-deafness-progeroid syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA9596592 rs768799892 RCV002431653 RCV000538457 |
860 | A>T | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1060501818 RCV000462547 CA16616167 |
860 | A>V | Variant assessed as Somatic; 0.0 impact. Colorectal cancer, susceptibility to, 10 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs762113011 RCV001557449 CA9596594 RCV000531806 |
861 | V>M | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2039244251 RCV001313449 |
862 | A>D | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA406985345 rs954146834 RCV002427446 RCV001232887 |
863 | H>Q | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1244565898 CA406985337 RCV002451615 RCV002265018 RCV001248254 |
863 | H>Y | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs765437818 RCV000686218 CA9596595 |
864 | A>S | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM3692996 rs765437818 CA406985347 RCV000645774 COSM192155 VAR_069338 |
864 | A>T | lung large_intestine Variant assessed as Somatic; impact. Colorectal cancer, susceptibility to, 10 found in a colorectal sample; somatic mutation [Cosmic, NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000566701 RCV003117340 CA406985356 rs1555793026 |
865 | Q>* | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000802018 rs1273286625 CA406985366 |
865 | Q>H | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000696838 RCV003163207 rs1568637783 CA406985362 |
865 | Q>R | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001343446 rs367680864 |
867 | V>F | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000485458 RCV003168898 RCV000679499 RCV001084300 CA9596597 RCV001355436 rs367680864 |
867 | V>I | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001055996 rs1060504365 |
868 | I>M | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001239923 rs2039245319 |
868 | I>N | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2039245319 RCV001216236 |
868 | I>T | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1422842883 RCV001016042 RCV001860811 CA406985403 |
869 | S>* | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
COSM3389235 COSM3389234 RCV000553582 CA406985405 rs1422842883 RCV001770452 |
869 | S>L | Variant assessed as Somatic; 0.0 impact. pancreas Colorectal cancer, susceptibility to, 10 [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
rs1064792943 RCV000456614 RCV002436416 |
871 | L>missing | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2039246253 RCV001203630 |
873 | C>W | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1167958969 RCV002440715 RCV000805774 CA406985456 |
874 | N>S | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs751565067 RCV001197723 RCV000506359 RCV000817839 CA9596599 |
875 | R>C | Mandibular hypoplasia-deafness-progeroid syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA9596600 COSM2754640 COSM2754639 RCV000685049 rs754832710 RCV002465752 |
875 | R>H | Variant assessed as Somatic; 0.0 impact. central_nervous_system Colorectal cancer, susceptibility to, 10 [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000557216 CA406985470 rs754832710 |
875 | R>L | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1354252782 RCV000706212 RCV002424718 CA406985473 |
876 | I>V | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000645861 CA406985487 RCV002458095 rs1263981527 |
877 | D>G | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000535664 CA406985485 rs1555793039 RCV000996993 |
877 | D>N | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555793039 RCV001313974 |
877 | D>Y | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2039247248 RCV001247283 |
879 | S>C | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2039247324 RCV001233319 |
880 | Q>R | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1601243216 RCV001016188 |
881 | L>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000546013 CA406985529 rs1189641592 RCV002469194 |
881 | L>V | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA406985567 RCV000693274 rs1568637937 |
886 | E>G | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000686064 CA891844277 rs1568637923 |
886 | E>L | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002430081 rs2039248127 RCV001295855 |
887 | L>M | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001322192 rs2039248298 |
888 | T>A | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000701033 CA9596603 rs777468034 RCV001771987 |
889 | R>C | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001218875 CA9596604 RCV002429932 rs748904485 |
889 | R>H | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA406985584 RCV002440751 RCV000811130 rs748904485 |
889 | R>P | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001295553 rs1555793052 |
890 | A>P | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003162932 rs1555793052 RCV000645889 CA406985586 |
890 | A>T | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA9596605 RCV001704557 rs146344351 RCV002525561 RCV000473913 |
890 | A>V | Variant assessed as Somatic; 0.0 impact. Colorectal cancer, susceptibility to, 10 Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1568637967 RCV000690289 |
891 | A>missing | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000791465 CA406985591 rs1601243345 |
891 | A>T | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000534737 CA406985606 rs1249502531 |
893 | D>G | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000235413 CA9596607 RCV003165663 RCV000475750 rs747559034 |
893 | D>N | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2039249703 RCV001321519 |
894 | Y>missing | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs370557271 CA9596611 RCV000689496 |
896 | G>C | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000548499 RCV002431654 RCV001549934 rs370557271 CA406985630 |
896 | G>S | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000571570 rs755492646 RCV000526895 |
897 | K>missing | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1057522764 RCV000688789 CA406985650 |
897 | K>N | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001222421 RCV000236124 CA9596614 rs373951714 |
902 | E>Q | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002433975 rs1469483693 RCV000814434 CA406985722 |
904 | A>S | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002431985 rs759530743 RCV001545543 RCV001348933 CA9596618 |
905 | E>K | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000645826 rs1555793133 CA406985792 |
906 | R>S | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000525097 rs1555793137 CA406985808 |
908 | R>G | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA406985830 RCV000541095 rs753176146 |
909 | K>N | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000692006 CA406985834 RCV003148829 rs1568638496 |
910 | R>Q | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001065038 rs1228707178 CA406985833 |
910 | R>W | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000228607 rs878854541 CA10583850 |
911 | D>N | Variant assessed as Somatic; impact. Colorectal cancer, susceptibility to, 10 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
CA309605131 RCV001307781 rs999020776 |
912 | P>L | Variant assessed as Somatic; impact. Colorectal cancer, susceptibility to, 10 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
CA406985855 RCV002436914 COSM40483 RCV001233579 rs1568638506 |
912 | P>S | Hereditary cancer-predisposing syndrome central_nervous_system Colorectal cancer, susceptibility to, 10 [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs778012264 RCV000458910 RCV001547040 CA9596648 |
913 | G>R | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002305506 CA406985887 rs1483458869 RCV000555949 |
915 | A>V | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2039261843 RCV001051092 |
917 | S>N | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001302244 rs1032313424 CA309605135 |
917 | S>R | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA406985941 RCV000555056 RCV002438435 CA406985939 RCV000764230 rs1057521209 |
920 | D>E | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000705782 rs1568638636 CA891844279 |
920 | D>F | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA9596651 RCV002440323 rs779041717 RCV000645882 |
920 | D>G | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000679503 RCV000465394 CA16616170 rs1060501811 RCV002436418 |
920 | D>N | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000466716 CA9596654 rs775310798 RCV000483315 |
922 | V>I | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs746950229 RCV001352552 RCV001349941 |
925 | V>L | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs746950229 RCV000467361 CA9596655 RCV001571555 |
925 | V>M | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA9596656 RCV000703876 RCV003165898 rs768642194 |
927 | I>L | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000645825 RCV002440320 CA406986017 rs1189529370 |
928 | S>T | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002438817 rs1023479909 CA309605147 RCV001351750 |
929 | A>G | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000557527 CA406986024 RCV001576823 rs1555793166 |
929 | A>S | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060501855 CA16616401 RCV000459174 |
930 | A>G | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000813768 rs144111108 CA406986033 |
930 | A>S | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000486248 RCV000458362 rs144111108 RCV002258907 CA9596657 |
930 | A>T | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1060501855 RCV000546334 RCV002438438 CA406986037 |
930 | A>V | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Colorectal cancer, susceptibility to, 10 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
CA406986046 RCV002440321 rs1555793174 RCV000645842 |
931 | K>R | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA406986056 rs1568638836 RCV000690449 |
932 | G>A | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000467511 RCV002255391 CA9596658 rs761355038 RCV001584153 |
932 | G>R | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001049678 rs1568638836 |
932 | G>V | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA406986061 RCV000556614 RCV000613637 rs764785216 |
933 | V>L | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000703397 rs772763056 RCV002440524 CA9596660 |
934 | A>T | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs555452657 RCV002268075 CA9596662 RCV000465794 |
935 | A>T | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs2039265888 RCV001038517 |
935 | A>V | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA406986084 rs1568638877 RCV000690017 RCV003163140 |
936 | Y>S | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001206539 rs1011628932 CA309605162 |
937 | M>K | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000463794 CA16616177 rs1060501839 |
937 | M>L | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1011628932 CA16616400 RCV000456552 |
937 | M>R | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA406986093 rs1060501839 RCV000691165 |
937 | M>V | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000645862 CA406986113 rs1356081968 |
938 | K>R | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001064255 rs2039266476 |
939 | S>A | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1064795958 CA16620899 RCV001246830 RCV000484601 |
939 | S>L | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002437036 rs2039266476 RCV001304814 |
939 | S>P | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002440505 RCV000700517 CA406986121 rs1414539977 |
940 | E>K | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1270149320 CA406986200 RCV000691318 |
942 | P>L | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1270149320 RCV001302900 |
942 | P>Q | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA406986190 RCV002438439 rs1203736050 RCV000759229 RCV000560470 |
942 | P>S | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs878854542 RCV000657280 RCV000234313 |
943 | L>missing | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001821556 RCV000534238 rs565328583 CA9596675 |
945 | V>M | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs2039292441 RCV001044148 |
947 | E>G | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1183245135 RCV001051574 |
952 | I>missing | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA406986321 RCV002440324 rs1555793299 RCV001284210 RCV000645885 |
952 | I>T | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10584618 rs879254101 RCV000236800 RCV001051079 |
952 | I>V | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001346056 rs1451419070 |
953 | D>E | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs374016016 CA9596676 RCV000657139 RCV000226033 |
954 | T>M | Variant assessed as Somatic; 0.0001989 impact. Colorectal cancer, susceptibility to, 10 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs374016016 RCV002436021 RCV000232119 RCV000759231 RCV000764231 CA9596677 |
954 | T>R | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1555793307 CA406986364 RCV000645784 |
955 | Q>L | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555793307 CA406986362 RCV000645801 |
955 | Q>R | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000662758 rs2039294872 |
963 | A>missing | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA309605363 RCV001215567 rs867478588 |
963 | A>S | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs754416243 RCV000645794 RCV002440318 CA9596682 |
963 | A>V | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000693953 rs956916335 RCV000521769 CA309605365 |
964 | K>N | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000791688 rs1601246458 |
964 | K>missing | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001209914 rs2039295541 |
965 | P>H | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000791814 rs1601246491 CA406986489 |
966 | L>F | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs367920933 CA406986498 RCV000707227 |
967 | L>P | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs367920933 RCV000645811 CA309605366 RCV001809712 |
967 | L>R | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs878854545 CA406986503 RCV001035685 |
968 | R>C | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000232304 rs878854545 CA10583854 |
968 | R>G | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001207350 rs2039296308 |
968 | R>H | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1601246525 RCV000791816 |
968 | R>missing | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002440322 CA406986559 RCV000645850 rs757740787 |
970 | F>L | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001228418 rs2039296786 |
970 | F>S | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001016941 rs897259743 RCV000467986 CA16616403 RCV000508349 |
971 | E>* | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA406986562 rs897259743 RCV000689867 |
971 | E>K | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA406986574 RCV000809769 rs1601246603 |
972 | P>A | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000575260 rs1555793339 |
973 | I>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000538566 CA9596685 rs750457028 RCV001546762 |
976 | E>K | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA406986620 RCV000548789 rs1431752851 RCV002438440 |
976 | E>V | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000485983 rs1064794933 RCV001342927 CA16620900 |
977 | G>S | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000645822 CA9596686 RCV000732270 RCV002440319 rs758407212 |
978 | R>C | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001066381 CA406986640 rs758407212 |
978 | R>G | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs371628260 RCV002436022 CA9596687 RCV000230108 RCV001537270 |
978 | R>H | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000686629 CA406986643 rs371628260 |
978 | R>P | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000691283 rs1568640013 |
978 | R>missing | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001348380 CA406986671 rs1348218790 |
980 | E>D | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA406986665 rs1601246748 RCV000814872 |
980 | E>G | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000541764 RCV002438441 RCV000759234 rs373389672 CA9596688 |
980 | E>K | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA10583855 RCV000232904 rs878854546 |
981 | A>S | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002440493 RCV000698223 CA406986708 rs1568640087 |
984 | L>P | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000701967 CA406986712 rs780926432 |
985 | R>G | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs749159160 RCV001055106 CA406986765 RCV002436617 |
985 | R>L | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA16616179 RCV002436423 RCV000506861 RCV000985260 rs749159160 RCV000460737 |
985 | R>P | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000458259 RCV001358205 CA9596714 rs749159160 RCV002436419 |
985 | R>Q | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000759235 RCV000664283 RCV002483864 rs780926432 CA9596690 RCV000645860 |
985 | R>W | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA406986767 RCV000820164 rs1601247278 |
986 | G>R | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000563376 RCV001346587 rs1555793420 |
987 | D>missing | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1489398122 RCV001315301 |
987 | D>E | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000544796 RCV001576587 CA406986780 rs985679759 |
987 | D>N | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA16616411 RCV002436422 RCV000465848 rs985679759 |
987 | D>Y | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001228599 rs2039305842 |
989 | T>missing | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10583858 RCV000227402 rs866317622 RCV001566259 RCV002436024 |
989 | T>M | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA406986824 RCV000645828 rs1410415830 |
990 | R>C | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs771789997 RCV000645792 CA9596717 RCV002440316 |
990 | R>H | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000807472 rs775264944 CA406986837 |
991 | C>F | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA406986838 RCV000533206 rs944183404 RCV002464253 |
991 | C>W | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001051386 RCV000759239 rs775264944 RCV002440586 CA9596718 |
991 | C>Y | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001239351 CA406986846 rs1427047895 |
992 | K>R | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002473014 RCV002436420 CA9596719 rs762280958 RCV000476104 |
993 | T>M | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
RCV000485907 RCV001856858 rs1064795402 |
993 | T>QLTGK | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs773795511 CA9596721 RCV001589183 RCV002436025 RCV000233656 |
995 | L>F | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000709591 RCV000558091 RCV003139682 rs918661445 CA16620903 RCV000480642 RCV003168965 |
996 | T>M | Familial colorectal cancer Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 Lynch syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001017809 rs1601247503 |
997 | G>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001860875 rs1601247432 RCV001017796 |
997 | G>missing | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002436421 RCV000463377 RCV001572071 rs368319533 CA16616185 |
997 | G>S | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV000227567 CA10583859 RCV002436026 rs878854549 |
998 | K>N | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002434425 RCV001035083 RCV001788402 rs550922227 RCV001732017 CA9596724 |
1001 | G>S | Hereditary cancer-predisposing syndrome Mandibular hypoplasia-deafness-progeroid syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000645785 rs767795037 RCV002440315 CA9596726 |
1004 | A>T | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000483406 RCV003168793 RCV000459850 rs376197467 CA9596728 |
1006 | A>T | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002440766 RCV000812891 CA406986930 rs1601247629 |
1006 | A>V | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001067741 rs2039308776 |
1007 | K>R | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1044937882 RCV000473681 RCV002436417 CA16616421 |
1008 | R>C | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000609517 rs763747258 CA9596729 RCV000645838 |
1008 | R>H | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA9596730 RCV000470658 RCV000985931 rs753844112 RCV003168794 |
1009 | R>C | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA9596731 rs757190258 RCV000985932 RCV000547747 |
1009 | R>H | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2039309366 RCV001304395 |
1010 | N>D | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001059880 rs2039309429 |
1010 | N>S | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000805073 RCV000417275 CA16602355 rs1057519693 |
1012 | C>Y | Colorectal cancer Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs368439344 RCV001284211 RCV002491067 RCV000536205 CA9596732 |
1013 | I>T | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000417319 rs1057519694 CA16602356 |
1014 | G>D | Colorectal cancer [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000474435 RCV003151776 rs371667262 CA16616424 |
1016 | R>C | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV000698097 CA406986991 rs1440946792 |
1016 | R>H | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1555793499 RCV000550906 CA406986999 |
1017 | T>I | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA9596733 RCV000689470 rs745426056 |
1018 | V>M | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1601247783 RCV000802538 CA406987010 |
1019 | L>R | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060501819 CA16616419 RCV000463799 RCV002286735 RCV000561154 |
1020 | S>N | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000473943 rs892295785 CA16616186 |
1021 | H>P | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001204151 rs2039311275 |
1022 | Q>* | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555793570 RCV000663152 |
1025 | V>L | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002319560 rs1060501858 CA406987057 RCV000700137 |
1025 | V>L | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001662427 rs1060501858 CA16616188 RCV000476212 RCV002319502 |
1025 | V>M | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002319586 CA406987070 RCV000811992 rs1489140479 |
1027 | E>K | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA406987089 rs1469945467 RCV000815348 |
1029 | C>Y | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001297272 rs2039327865 RCV002322189 |
1031 | P>L | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001069357 rs2039327767 |
1031 | P>S | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs763951036 RCV000645782 CA406987117 |
1032 | R>L | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs763951036 RCV001246587 |
1032 | R>P | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs763951036 RCV000232225 RCV001762526 CA9596747 |
1032 | R>Q | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs760766848 RCV000475135 CA9596746 RCV002465658 RCV001284329 |
1032 | R>W | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA406987119 rs1276328747 RCV000645873 |
1033 | E>* | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000461189 CA10584619 rs879254134 RCV000235484 |
1035 | E>Q | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1555793593 RCV000574435 RCV000690018 |
1039 | K>missing | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2039329423 RCV001210839 |
1039 | K>missing | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000444008 RCV002323657 RCV000459781 CA16607937 rs1057524200 |
1040 | E>K | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs370868833 RCV003166356 RCV000816608 CA309605609 |
1042 | S>Y | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
CA406987264 RCV000688661 rs1060504363 |
1043 | H>Q | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000469567 rs751088347 RCV003168790 RCV000679509 CA9596771 RCV001355720 |
1046 | A>S | Carcinoma of colon Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA9596772 RCV000809978 rs754507612 |
1046 | A>V | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000704000 CA406987302 rs1568641614 |
1047 | L>P | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs780749621 RCV002325271 RCV001799693 CA9596773 RCV000645812 |
1050 | R>C | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000456809 RCV002323713 CA16616428 rs1060501824 |
1050 | R>H | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs951661619 RCV001056141 CA309605616 RCV002320304 |
1051 | F>L | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002325505 rs1005672452 CA309605619 RCV000794007 |
1052 | S>L | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
CA9596776 RCV000466428 RCV000486360 rs779208942 RCV000709592 |
1053 | R>C | Familial colorectal cancer Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001066859 CA406987359 rs779208942 |
1053 | R>G | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA309605624 rs980793204 RCV000809272 |
1053 | R>H | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1443868841 RCV002325395 RCV000696061 CA406987369 |
1054 | L>F | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA406987385 rs1601249877 RCV001043208 RCV001018890 |
1055 | W>* | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000815402 rs1601249847 CA406987379 |
1055 | W>G | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA9596778 RCV000764232 RCV000553895 rs772397517 RCV003168960 RCV000485225 |
1056 | T>M | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000461625 rs1060501848 CA16616202 |
1057 | Q>H | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000532197 CA9596781 RCV002324002 RCV001764579 rs768747132 |
1057 | Q>R | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1568641804 CA406987426 RCV001018976 RCV000690884 |
1059 | Q>* | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001040384 CA9596782 rs777018011 |
1060 | R>C | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs762090110 CA9596783 RCV000645867 RCV002255488 |
1060 | R>H | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA406987450 RCV000645769 rs1555793669 |
1061 | C>F | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001290203 rs2039339156 |
1062 | Q>R | Mandibular hypoplasia-deafness-progeroid syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001219516 rs2039339260 |
1063 | G>S | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002324003 RCV000542366 CA9596786 rs762828545 |
1066 | H>R | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1308806534 CA406987500 RCV001204818 |
1066 | H>Y | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001284331 rs2039340383 RCV001871655 |
1068 | D>missing | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16616425 RCV000457667 rs1060501805 |
1068 | D>G | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001756077 CA406987533 RCV000645843 rs1180107064 |
1069 | V>I | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2039340549 RCV001219342 |
1070 | I>missing | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16616436 rs1060501801 RCV000464335 |
1070 | I>F | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000686519 rs752376126 CA9596791 |
1073 | S>G | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001051476 rs541931950 |
1074 | R>P | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs541931950 RCV000530844 CA9596825 RCV002465687 RCV000486966 |
1074 | R>Q | Variant assessed as Somatic; 0.0 impact. Colorectal cancer, susceptibility to, 10 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs778190445 RCV000809421 RCV001759558 CA9596824 |
1074 | R>W | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2039392032 RCV001063342 |
1075 | D>E | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001296553 rs2039391930 RCV002447267 |
1075 | D>G | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060501830 RCV002322153 RCV001242885 |
1077 | P>A | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060501830 CA406987695 RCV002447101 RCV001218879 |
1077 | P>S | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1060501830 CA16616426 RCV000459611 |
1077 | P>T | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001247304 rs2039392510 |
1078 | I>T | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16616208 rs1060501852 RCV000465976 |
1078 | I>V | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1601253982 RCV000816005 |
1079 | F>missing | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000706845 CA406987723 rs1568643426 RCV002325435 |
1079 | F>L | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000645858 rs1555793871 CA658799283 |
1081 | M>IV | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs774127655 RCV000530654 CA9596828 RCV003159859 |
1081 | M>K | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA406987740 rs1555793868 RCV000645881 |
1081 | M>V | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA406987749 RCV000645841 rs1307047144 |
1082 | R>C | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001569532 RCV001225939 rs1307047144 |
1082 | R>G | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001040391 rs1601254052 RCV002274120 |
1082 | R>H | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000811933 rs1601254052 CA406987752 RCV002325585 |
1082 | R>P | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000466748 CA9596830 rs200284426 |
1083 | K>Q | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs2039393545 RCV001218192 |
1083 | K>R | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001211490 rs2039393865 RCV002322028 |
1085 | V>L | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000686677 CA406987780 rs3219457 RCV002325362 |
1086 | R>L | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs3219457 CA406987779 RCV000800961 |
1086 | R>P | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs3219457 VAR_019345 RCV002256144 RCV000235427 RCV000781761 CA9596832 RCV001081021 |
1086 | R>Q | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002256265 rs963136799 RCV000470270 CA16616189 |
1086 | R>W | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs2039394417 RCV001210113 |
1087 | K>missing | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001731768 rs1555793878 RCV002324005 CA406987791 RCV000560067 |
1088 | D>N | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA406987798 RCV000645791 rs1555793883 |
1089 | L>V | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs946088822 CA16616440 RCV002323712 RCV000468092 RCV002248680 RCV001653826 |
1091 | D>N | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001320156 rs2039395274 |
1093 | E>missing | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000229656 RCV001762527 RCV002321870 rs878854551 CA10583860 |
1093 | E>K | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs755297873 RCV001040016 |
1097 | R>G | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003165623 CA9596838 RCV000233144 rs375328523 RCV000985935 |
1097 | R>Q | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000985934 rs755297873 CA9596837 RCV002448733 RCV000543982 |
1097 | R>W | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA406987854 RCV000693951 RCV002442456 rs1445817375 |
1098 | R>C | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000548324 RCV002456171 rs878854552 CA406987855 RCV000985936 |
1098 | R>H | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs878854552 RCV000226916 RCV002321871 RCV000709593 CA10583861 RCV000759957 |
1098 | R>L | Familial colorectal cancer Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001315471 rs756287064 |
1099 | F>I | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001347233 rs777958191 |
1099 | F>L | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM418104 CA9596840 COSM418105 RCV000526635 rs756287064 |
1099 | F>L | urinary_tract Colorectal cancer, susceptibility to, 10 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000764233 RCV001753885 rs1060501837 RCV000456639 CA16616211 |
1100 | G>R | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1689876875 RCV001228956 |
1101 | P>missing | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000551550 rs895709341 CA309605962 |
1101 | P>H | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA406987871 RCV002458425 rs895709341 RCV000795238 |
1101 | P>L | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA9596844 RCV000462761 RCV002264942 RCV002323714 rs142223599 |
1101 | P>S | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000470938 RCV001821261 rs761614971 RCV000570884 RCV000657258 |
1102 | P>missing | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555793930 RCV000759958 RCV000565077 |
1102 | P>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001317976 rs757442072 |
1102 | P>A | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002528416 RCV001770454 rs1415038504 CA406987881 RCV000525288 |
1103 | G>E | Colorectal cancer, susceptibility to, 10 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1198421459 RCV001064534 |
1104 | P>L | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001536595 RCV000540009 rs1256482040 CA406987894 |
1105 | E>G | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001295306 rs2039398075 |
1105 | E>Q | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000805692 CA406987895 rs1256482040 RCV002325564 |
1105 | E>V | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002320315 RCV001060659 rs1555793944 |
1106 | A>D | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002248681 RCV000463247 CA9596846 RCV002451105 rs778990190 RCV000759959 |
1106 | A>T | Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1555793944 RCV000554740 CA406987902 |
1106 | A>V | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs745737815 RCV000235424 RCV000229836 CA9596847 |
1107 | W>C | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000791936 rs1601254578 CA406987911 |
1108 | W>R | Colorectal cancer, susceptibility to, 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA406969981 rs748471297 |
5 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1187406181 CA406969990 |
8 | G>S | No |
ClinGen gnomAD |
|
|
rs922648487 CA309597762 |
11 | P>L | No |
ClinGen TOPMed |
|
|
CA406970015 rs1389018181 |
12 | G>E | No |
ClinGen gnomAD |
|
|
rs1601188623 CA406970021 |
13 | V>G | No |
ClinGen Ensembl |
|
|
rs1402598316 CA406970024 |
14 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 21 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772263544 CA9595604 |
23 | W>L | No |
ClinGen ExAC |
|
|
CA406970078 rs1246828069 |
24 | D>N | No |
ClinGen gnomAD |
|
|
CA9595607 rs775421347 |
26 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA9595610 rs150066950 |
27 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761551015 CA9595611 |
28 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA406970112 rs1361309144 |
29 | P>L | No |
ClinGen gnomAD |
|
|
CA406970163 rs1260697914 |
37 | D>E | No |
ClinGen gnomAD |
|
|
rs1486924942 CA406970161 |
37 | D>V | No |
ClinGen gnomAD |
|
|
CA406970176 rs1201454948 |
40 | L>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 46 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs572732092 CA9595620 |
49 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA406970248 rs1158291107 |
50 | L>M | No |
ClinGen gnomAD |
|
|
CA309597868 rs868297791 |
51 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA9595624 rs201261298 |
59 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA406970351 rs1601189562 |
65 | V>G | No |
ClinGen Ensembl |
|
|
CA406970364 rs753863287 |
67 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA16620883 rs1064794543 RCV000484817 |
82 | P>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA406970457 rs201006221 |
82 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406970467 rs1417698677 |
84 | P>S | No |
ClinGen gnomAD |
|
|
CA406970583 RCV000985930 rs1601190870 |
95 | I>M | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1321174766 CA406970633 |
100 | E>K | No |
ClinGen gnomAD |
|
|
CA406970686 rs968051129 |
104 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA406970695 rs1240570706 |
105 | V>L | No |
ClinGen gnomAD |
|
|
CA406972033 rs1424788049 |
106 | G>D | No |
ClinGen gnomAD |
|
|
CA406972081 rs1601198162 |
109 | Q>R | No |
ClinGen Ensembl |
|
|
rs1342814246 CA406972102 |
110 | P>L | No |
ClinGen TOPMed |
|
|
CA9595715 rs761127022 |
123 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406972402 rs1601198599 |
131 | T>P | No |
ClinGen Ensembl |
|
|
rs1450837433 CA406972481 |
135 | F>V | No |
ClinGen gnomAD |
|
|
CA9595725 rs562388532 |
141 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 142 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1406566934 CA406972628 |
143 | G>D | No |
ClinGen gnomAD |
|
| VAR_069333 | 145 | A>D | found in a colorectal sample; somatic mutation [UniProt] | No | UniProt |
| TCGA novel | 146 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1326137249 CA406972681 |
147 | Y>N | No |
ClinGen gnomAD |
|
|
rs1412205948 CA406972696 |
148 | F>L | No |
ClinGen gnomAD |
|
|
rs1601198823 CA406972732 |
150 | T>P | No |
ClinGen Ensembl |
|
|
CA9595732 rs773400029 |
151 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA406972766 rs41563714 |
152 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV001284333 rs1555789811 |
153 | P>T | No |
ClinVar dbSNP |
|
| rs1019022551 | 154 | P>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9595760 rs760637101 |
160 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA9595762 rs753299061 |
163 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs781721165 CA9595766 |
169 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA406973091 rs748486492 |
171 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772242040 CA9595774 |
175 | D>G | No |
ClinGen ExAC |
|
| TCGA novel | 180 | R>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA406973238 rs1421550547 |
180 | R>K | No |
ClinGen TOPMed |
|
|
CA406973335 rs1298088600 |
186 | A>P | No |
ClinGen gnomAD |
|
|
CA9595796 rs768494581 |
188 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406973444 rs772804822 |
192 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9595801 rs762498700 |
193 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA9595800 rs762498700 |
193 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs144656348 CA406973481 |
194 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA406973804 rs1601200344 |
201 | Y>S | No |
ClinGen Ensembl |
|
|
CA9595831 rs755255779 |
202 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA9595835 rs777700419 |
204 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA9595837 rs770961852 |
206 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1601200483 CA406973925 |
207 | S>P | No |
ClinGen Ensembl |
|
|
CA9595842 rs373192520 |
211 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9595845 rs763479070 |
213 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 216 | L>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9595851 rs150010804 |
218 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA406974223 rs1310251395 |
222 | P>A | No |
ClinGen TOPMed |
|
|
rs368940099 CA9595858 |
222 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA406974338 rs1234024396 |
228 | E>D | No |
ClinGen gnomAD |
|
|
CA406974323 rs1184569102 |
228 | E>K | No |
ClinGen gnomAD |
|
|
rs1469174668 CA406974362 |
230 | G>D | No |
ClinGen gnomAD |
|
| TCGA novel | 234 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA406974426 rs1388274211 |
235 | G>S | No |
ClinGen gnomAD |
|
|
COSM713307 CA406974599 COSM713308 rs1292667374 |
247 | N>I | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA9595876 rs768314552 |
251 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA406974788 TCGA novel rs1477983424 |
255 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen gnomAD |
|
rs746195458 CA9595899 |
256 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406974824 rs1340276098 |
258 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA9595901 rs761250116 |
259 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs761250116 CA9595902 |
259 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA406974878 rs571623032 |
262 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9595908 rs751557602 |
264 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA309599746 rs985636340 |
266 | L>R | No |
ClinGen Ensembl |
|
|
CA406974990 rs1173910214 |
269 | P>S | No |
ClinGen gnomAD |
|
|
CA9595910 rs780722155 |
270 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA406975090 rs1239219183 |
276 | R>K | No |
ClinGen gnomAD |
|
|
CA406975135 rs1269288029 |
279 | E>* | No |
ClinGen gnomAD |
|
|
rs1421184336 CA406975151 |
280 | K>E | No |
ClinGen TOPMed |
|
|
CA406976787 rs1601202452 |
290 | V>G | No |
ClinGen Ensembl |
|
|
rs773148463 CA406976867 |
294 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767449295 CA9595945 |
300 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA309601269 rs11550555 |
301 | E>* | No |
ClinGen gnomAD |
|
|
rs11550555 CA406976995 |
301 | E>K | No |
ClinGen gnomAD |
|
|
CA9595949 rs753247559 |
302 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA9595952 rs751974087 |
304 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA406977125 rs755457889 |
306 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1358095329 CA406977197 |
309 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 311 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA406977244 rs371612922 |
312 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746087148 CA9595961 |
316 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9595966 rs41554817 |
321 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9595967 rs764832779 |
321 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA406977491 rs1160832458 |
324 | G>S | No |
ClinGen gnomAD |
|
|
rs1060501813 CA406977783 |
330 | E>K | No |
ClinGen gnomAD |
|
|
rs867125751 CA309601306 |
333 | P>H | No |
ClinGen Ensembl |
|
| TCGA novel | 333 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA309601307 rs867375380 |
338 | C>F | No |
ClinGen Ensembl |
|
|
CA309601308 rs866500487 |
339 | S>* | No |
ClinGen gnomAD |
|
| TCGA novel | 344 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000481688 CA16620886 rs1064796383 |
346 | E>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs749601227 | 346 | E>S | Variant assessed as Somatic; 6.266e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1464011232 CA406978090 |
346 | E>V | No |
ClinGen gnomAD |
|
|
CA406978103 rs1235062032 |
347 | P>S | No |
ClinGen TOPMed |
|
|
CA309601310 rs867385484 |
348 | E>D | No |
ClinGen gnomAD |
|
|
CA406978122 rs1446281340 |
348 | E>G | No |
ClinGen TOPMed |
|
|
CA406978203 rs1279241589 |
354 | A>T | No |
ClinGen gnomAD |
|
|
rs989090668 CA406978246 |
356 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA309601311 rs989090668 |
356 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA406978254 rs143340270 |
357 | L>P | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs766467152 CA9596015 |
357 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs755198962 CA9596018 |
359 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406978282 rs1262227952 |
360 | C>S | No |
ClinGen gnomAD |
|
|
rs1178543471 CA406978292 |
362 | P>S | No |
ClinGen gnomAD |
|
|
rs1034501260 CA309601313 |
366 | A>P | No |
ClinGen Ensembl |
|
|
CA406978320 rs1555790451 |
367 | K>E | No |
ClinGen Ensembl |
|
|
CA406978344 rs868850526 |
370 | S>T | No |
ClinGen TOPMed |
|
|
CA406978387 rs1231801192 |
376 | D>V | No |
ClinGen gnomAD |
|
|
rs745536629 CA9596025 |
377 | L>V | No |
ClinGen ExAC |
|
| TCGA novel | 380 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA406978430 rs1262890589 |
381 | W>S | No |
ClinGen gnomAD |
|
|
CA406978440 rs1555790559 |
383 | T>P | No |
ClinGen Ensembl |
|
|
CA406978557 rs1601206256 |
400 | N>T | No |
ClinGen Ensembl |
|
|
rs1555790579 CA406978573 |
402 | D>A | No |
ClinGen Ensembl |
|
|
CA406978629 rs1378154786 |
411 | Q>P | No |
ClinGen gnomAD |
|
|
rs1378154786 CA406978630 |
411 | Q>R | No |
ClinGen gnomAD |
|
|
CA9596067 rs774993483 |
412 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA406979719 rs1275473535 |
418 | F>S | No |
ClinGen gnomAD |
|
|
rs772840420 CA9596095 |
422 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1027677934 CA406979771 |
425 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1415735570 CA406979824 |
434 | S>A | No |
ClinGen gnomAD |
|
|
CA406979835 rs1322870100 |
436 | F>V | No |
ClinGen gnomAD |
|
|
CA9596108 rs776538587 |
442 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA406979907 rs1319510284 |
447 | K>N | No |
ClinGen TOPMed |
|
|
RCV000506981 rs1555791135 CA406979905 |
447 | K>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA406979910 rs748429803 |
448 | V>F | No |
ClinGen ExAC gnomAD |
|
|
COSM3389232 COSM3389233 CA309601755 rs924421666 |
453 | G>D | pancreas [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA406979949 rs1004124075 |
454 | R>P | No |
ClinGen gnomAD |
|
|
CA406979966 rs1362604491 |
457 | M>R | No |
ClinGen TOPMed |
|
|
rs766158800 CA9596113 |
457 | M>V | No |
ClinGen ExAC gnomAD |
|
| VAR_069334 | 461 | Q>H | found in a colorectal sample; somatic mutation [UniProt] | No | UniProt |
|
CA9596133 rs759504885 |
462 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs760166741 CA9596136 |
466 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1601216649 CA406980038 |
467 | Y>D | No |
ClinGen Ensembl |
|
|
RCV001284041 rs1060501851 |
467 | Y>S | No |
ClinVar dbSNP |
|
|
CA406980055 rs1221064627 |
469 | L>H | No |
ClinGen gnomAD |
|
|
CA309601765 rs1052471 |
472 | Y>H | No |
ClinGen Ensembl |
|
|
CA406980212 rs1489180867 |
481 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA406980208 rs1481192588 |
481 | F>V | No |
ClinGen TOPMed |
|
|
rs1478459957 CA406980248 |
487 | E>K | No |
ClinGen gnomAD |
|
|
CA406980272 rs1283947674 |
490 | Q>P | No |
ClinGen TOPMed |
|
|
CA406980294 rs1302716089 |
493 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 500 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777866589 CA406980761 |
502 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1601218966 CA406980775 |
504 | T>P | No |
ClinGen Ensembl |
|
| TCGA novel | 509 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1258688832 CA406980801 |
509 | A>S | No |
ClinGen gnomAD |
|
|
CA406980829 rs1186488048 |
513 | L>P | No |
ClinGen gnomAD |
|
|
rs746950708 CA9596171 |
516 | A>P | No |
ClinGen ExAC |
|
|
CA309601824 rs752755096 |
516 | A>V | No |
ClinGen Ensembl |
|
|
CA9596173 rs776293311 |
517 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200032456 CA309601826 |
520 | L>Q | No |
ClinGen Ensembl |
|
|
rs1026145989 CA309601825 |
520 | L>V | No |
ClinGen Ensembl |
|
|
CA406980975 rs1601219611 |
538 | V>G | No |
ClinGen Ensembl |
|
|
CA9596188 rs754969306 |
539 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1429970226 CA406981013 |
544 | S>R | No |
ClinGen gnomAD |
|
|
rs1060501822 CA406981071 |
553 | V>G | No |
ClinGen TOPMed |
|
|
CA406981084 rs1601219981 |
555 | V>G | No |
ClinGen Ensembl |
|
|
rs762273084 CA406981087 |
556 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406981127 rs1408487359 |
562 | Q>H | No |
ClinGen gnomAD |
|
|
CA406981160 rs1273187286 |
563 | A>P | No |
ClinGen gnomAD |
|
|
CA9596234 rs544143880 |
564 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1436876851 CA406981173 |
564 | M>L | No |
ClinGen gnomAD |
|
|
rs759861508 CA9596239 |
570 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA406981223 CA309601836 rs775434361 |
572 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs914111326 CA309601837 |
576 | E>D | No |
ClinGen Ensembl |
|
|
rs757100984 CA406981272 |
580 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs757100984 CA9596245 |
580 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1478772104 CA406981401 |
591 | K>E | No |
ClinGen gnomAD |
|
|
rs1601225138 CA406981929 |
593 | Y>D | No |
ClinGen Ensembl |
|
|
rs768698444 CA9596280 |
594 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
CA406981978 rs1208283621 |
601 | L>V | No |
ClinGen TOPMed |
|
|
rs1601225379 CA406982047 |
611 | M>I | No |
ClinGen Ensembl |
|
|
CA406982042 rs1275102026 |
611 | M>L | No |
ClinGen gnomAD |
|
|
rs780291643 CA9596294 |
619 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1471881768 CA406982111 |
621 | L>I | No |
ClinGen gnomAD |
|
|
rs1340318083 CA406982188 |
632 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA406982244 rs771527077 |
640 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA9596331 rs766743045 |
644 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1431495856 CA406982307 |
651 | V>L | No |
ClinGen gnomAD |
|
|
CA309602093 rs917518347 |
672 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA406982451 rs917518347 |
672 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs761942353 CA9596372 |
676 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1233422134 CA406982480 |
677 | E>K | No |
ClinGen gnomAD |
|
|
CA406982589 rs1601228007 |
695 | V>G | No |
ClinGen Ensembl |
|
|
CA9596383 rs777542518 |
696 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1306540639 CA406982598 |
697 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs577799299 CA9596389 |
707 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA406982678 RCV000985926 rs1601228154 |
709 | G>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs760678755 CA9596433 |
719 | S>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 721 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1568634947 CA406983573 |
730 | K>T | No |
ClinGen Ensembl |
|
|
CA406983583 rs1601237462 |
731 | T>P | No |
ClinGen Ensembl |
|
|
rs1479695664 CA406983626 |
733 | Q>H | No |
ClinGen TOPMed |
|
|
CA406983639 rs868025188 |
735 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 744 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756496208 CA9596442 |
745 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA406983816 rs1226705173 |
747 | T>I | No |
ClinGen gnomAD |
|
|
CA406983845 rs1244269995 |
749 | A>V | No |
ClinGen gnomAD |
|
|
CA9596445 rs771176744 |
750 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1601238474 CA406983930 |
751 | V>G | No |
ClinGen Ensembl |
|
|
CA406983932 rs1207462965 |
752 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 757 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 759 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757846450 CA9596479 |
771 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA406984200 rs1487474161 |
777 | E>* | No |
ClinGen gnomAD |
|
|
CA406984197 rs1487474161 |
777 | E>K | No |
ClinGen gnomAD |
|
|
rs1410087763 CA406984223 |
779 | A>E | No |
ClinGen gnomAD |
|
|
CA406984249 rs1434951609 |
781 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA406984268 rs1060501846 |
782 | V>G | No |
ClinGen Ensembl |
|
|
CA406984275 rs1601238976 |
783 | S>A | No |
ClinGen Ensembl |
|
|
CA406984362 rs1402142980 |
790 | I>M | No |
ClinGen TOPMed |
|
|
CA9596496 rs762331249 |
793 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1601239137 CA406984398 |
794 | F>V | No |
ClinGen Ensembl |
|
|
rs1266512024 CA406984541 |
800 | P>Q | No |
ClinGen gnomAD |
|
|
rs1064795476 RCV000482235 |
805 | S>missing | No |
ClinVar dbSNP |
|
|
rs771700024 CA406984648 |
808 | R>P | No |
ClinGen ExAC gnomAD |
|
| rs763850764 | 816 | S>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs142017093 CA406984764 |
817 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA309604780 rs142017093 |
817 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA406984785 rs1601241057 |
819 | D>A | No |
ClinGen Ensembl |
|
|
CA406985111 rs1277949146 |
831 | A>T | No |
ClinGen gnomAD |
|
|
rs1210758221 CA406985119 |
832 | V>A | No |
ClinGen gnomAD |
|
|
rs763443242 CA9596544 |
840 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9596545 rs774971120 |
842 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 849 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1564300 COSM1564299 rs1351034464 CA406985237 |
852 | L>R | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA9596553 rs750421876 |
853 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406985339 rs1289993856 |
863 | H>P | No |
ClinGen gnomAD |
|
|
CA406985375 rs1601243031 |
866 | D>V | No |
ClinGen Ensembl |
|
|
CA406985474 rs1354252782 |
876 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs752090630 CA9596601 |
883 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA406985585 rs748904485 |
889 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA309605059 rs866086102 |
895 | A>V | No |
ClinGen Ensembl |
|
|
rs1297113731 CA406985656 |
898 | Q>* | No |
ClinGen TOPMed |
|
| TCGA novel | 907 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs536594685 CA9596645 |
908 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA406985878 rs1275263307 |
914 | S>I | No |
ClinGen gnomAD |
|
|
CA406985945 rs868146189 |
921 | R>C | No |
ClinGen gnomAD |
|
|
CA309605140 rs868146189 |
921 | R>S | No |
ClinGen gnomAD |
|
|
CA406985968 rs1360563023 |
923 | P>L | No |
ClinGen gnomAD |
|
|
CA309605143 rs867074778 |
924 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1230324348 CA406985986 |
925 | V>A | No |
ClinGen gnomAD |
|
|
RCV000657417 rs1211000727 |
933 | V>missing | No |
ClinVar dbSNP |
|
|
rs764785216 CA9596659 |
933 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs867709242 CA309605156 |
934 | A>V | No |
ClinGen Ensembl |
|
|
RCV000601570 rs1203736050 CA406986191 |
942 | P>A | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA406986227 rs143974331 |
944 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA309605354 rs1019032820 |
951 | P>S | No |
ClinGen TOPMed |
|
|
rs1343793547 CA406986378 |
956 | Y>C | No |
ClinGen gnomAD |
|
|
rs766113083 CA9596678 |
956 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA406986406 rs1601246345 |
957 | Y>S | No |
ClinGen Ensembl |
|
|
CA406986432 rs1411727570 |
959 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA406986437 rs1411727570 |
959 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA9596679 rs774141689 |
959 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA9596680 rs761160001 |
960 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs764530091 CA9596681 |
961 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA309605361 rs867478588 |
963 | A>T | No |
ClinGen Ensembl |
|
|
CA406986473 rs1290208391 |
964 | K>Q | No |
ClinGen gnomAD |
|
|
CA309605367 rs989668372 |
969 | I>N | No |
ClinGen TOPMed |
|
|
CA309605368 rs897259743 |
971 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA406986611 rs1378467490 |
975 | G>A | No |
ClinGen gnomAD |
|
|
rs1313612116 CA406986695 |
983 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA406986799 rs1201712670 |
988 | H>R | No |
ClinGen gnomAD |
|
|
CA406986815 rs866317622 |
989 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1270953867 CA406986854 |
993 | T>A | No |
ClinGen TOPMed |
|
|
CA309605445 rs867305018 |
1003 | L>M | No |
ClinGen gnomAD |
|
|
rs1057519693 CA406986967 |
1012 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
CA406986985 rs1243147142 |
1015 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
CA406986984 rs1243147142 |
1015 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA406987060 rs1254226836 |
1025 | V>A | No |
ClinGen TOPMed |
|
|
CA406987091 rs1469945467 |
1029 | C>F | No |
ClinGen gnomAD |
|
|
rs1403723642 CA406987101 |
1030 | Q>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA406987122 rs1276328747 |
1033 | E>K | No |
ClinGen gnomAD |
|
|
CA9596748 rs201933770 |
1034 | S>C | No |
ClinGen 1000Genomes ExAC |
|
|
rs757102306 CA406987152 |
1035 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA9596750 rs201139477 |
1038 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9596751 rs750366769 |
1040 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1393294425 CA406987262 |
1043 | H>R | No |
ClinGen gnomAD |
|
| TCGA novel | 1044 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA406987289 rs751088347 |
1046 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746377890 CA9596777 |
1055 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs747122361 CA9596780 |
1057 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1386308245 CA406987429 |
1059 | Q>R | No |
ClinGen gnomAD |
|
|
rs762090110 CA9596784 |
1060 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA406987472 rs1160509272 |
1063 | G>D | No |
ClinGen TOPMed |
|
|
rs550641583 CA9596788 |
1067 | E>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1315638826 CA406987511 |
1067 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs772054340 CA9596829 |
1081 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs774127655 CA9596827 |
1081 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406987818 rs766669368 |
1092 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA9596835 rs766669368 |
1092 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1472421133 CA406987822 |
1092 | Q>H | No |
ClinGen TOPMed |
|
|
CA406987820 rs1178367942 |
1092 | Q>R | No |
ClinGen gnomAD |
|
|
CA9596836 rs527887852 |
1093 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA406987832 rs1568643585 |
1094 | Q>* | No |
ClinGen Ensembl |
|
|
CA406987847 rs1163666339 |
1096 | L>P | No |
ClinGen gnomAD |
|
|
CA406987850 rs375328523 |
1097 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA406987870 rs142223599 |
1101 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA406987872 rs895709341 |
1101 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs142223599 CA406987869 |
1101 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs761614971 | 1102 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757442072 CA9596845 |
1102 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1198421459 CA406987887 |
1104 | P>H | No |
ClinGen gnomAD |
2 associated diseases with P28340
[MIM: 612591]: Colorectal cancer 10 (CRCS10)
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:23263490, ECO:0000269|PubMed:24501277}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
[MIM: 615381]: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL)
An autosomal dominant systemic disorder characterized by prominent loss of subcutaneous fat, metabolic abnormalities including insulin resistance and diabetes mellitus, sclerodermatous skin, and a facial appearance characterized by mandibular hypoplasia. Sensorineural deafness occurs late in the first or second decades of life. {ECO:0000269|PubMed:23770608}. Note=The disease is caused by variants affecting the gene represented in this entry.
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:23263490, ECO:0000269|PubMed:24501277}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
- An autosomal dominant systemic disorder characterized by prominent loss of subcutaneous fat, metabolic abnormalities including insulin resistance and diabetes mellitus, sclerodermatous skin, and a facial appearance characterized by mandibular hypoplasia. Sensorineural deafness occurs late in the first or second decades of life. {ECO:0000269|PubMed:23770608}. Note=The disease is caused by variants affecting the gene represented in this entry.
4 regional properties for P28340
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | DNA-directed DNA polymerase, family B, exonuclease domain | 131 - 477 | IPR006133 |
| domain | DNA-directed DNA polymerase, family B, multifunctional domain | 541 - 973 | IPR006134 |
| conserved_site | DNA-directed DNA polymerase, family B, conserved site | 753 - 761 | IPR017964 |
| domain | C4-type zinc-finger of DNA polymerase delta | 1012 - 1082 | IPR025687 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.7.7 | Nucleotidyltransferases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| aggresome | An inclusion body formed by dynein-dependent retrograde transport of an aggregated protein on microtubules. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| delta DNA polymerase complex | A multimeric DNA polymerase enzyme complex which differs in composition amongst species; in humans it is a heterotetramer of four subunits of approximately 125, 50, 68 and 12kDa, while in S. cerevisiae, it has three different subunits which form a heterotrimer, and the active enzyme is a dimer of this heterotrimer. Functions in DNA replication, mismatch repair and excision repair. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleotide-excision repair complex | Any complex formed of proteins that act in nucleotide-excision repair. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
9 GO annotations of molecular function
| Name | Definition |
|---|---|
| 3'-5'-exodeoxyribonuclease activity | Catalysis of the sequential cleavage of mononucleotides from a free 3' terminus of a DNA molecule. |
| 4 iron, 4 sulfur cluster binding | Binding to a 4 iron, 4 sulfur (4Fe-4S) cluster; this cluster consists of four iron atoms, with the inorganic sulfur atoms found between the irons and acting as bridging ligands. |
| chromatin binding | Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase. |
| damaged DNA binding | Binding to damaged DNA. |
| DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
| DNA-directed DNA polymerase activity | Catalysis of the reaction: deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1); the synthesis of DNA from deoxyribonucleotide triphosphates in the presence of a DNA template and a 3'hydroxyl group. |
| enzyme binding | Binding to an enzyme, a protein with catalytic activity. |
| metal ion binding | Binding to a metal ion. |
| nucleotide binding | Binding to a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose. |
12 GO annotations of biological process
| Name | Definition |
|---|---|
| base-excision repair, gap-filling | Repair of the damaged strand by the combined action of an apurinic endouclease that degrades a few bases on the damaged strand and a polymerase that synthesizes a 'patch' in the 5' to 3' direction, using the undamaged strand as a template. |
| cellular response to UV | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an ultraviolet radiation (UV light) stimulus. Ultraviolet radiation is electromagnetic radiation with a wavelength in the range of 10 to 380 nanometers. |
| DNA biosynthetic process | The biosynthetic process resulting in the formation of DNA. |
| DNA repair | The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway. |
| DNA replication | The cellular metabolic process in which a cell duplicates one or more molecules of DNA. DNA replication begins when specific sequences, known as origins of replication, are recognized and bound by initiation proteins, and ends when the original DNA molecule has been completely duplicated and the copies topologically separated. The unit of replication usually corresponds to the genome of the cell, an organelle, or a virus. The template for replication can either be an existing DNA molecule or RNA. |
| DNA replication proofreading | Correction of replication errors by DNA polymerase using a 3'-5' exonuclease activity. |
| DNA synthesis involved in DNA repair | Synthesis of DNA that proceeds from the broken 3' single-strand DNA end and uses the homologous intact duplex as the template. |
| DNA-templated DNA replication | A DNA replication process that uses parental DNA as a template for the DNA-dependent DNA polymerases that synthesize the new strands. |
| error-free translesion synthesis | The conversion of DNA-damage induced single-stranded gaps into large molecular weight DNA after replication by using a specialized DNA polymerase or replication complex to insert a defined nucleotide across the lesion. This process does not remove the replication-blocking lesions but does not causes an increase in the endogenous mutation level. For S. cerevisiae, RAD30 encodes DNA polymerase eta, which incorporates two adenines. When incorporated across a thymine-thymine dimer, it does not increase the endogenous mutation level. |
| fatty acid homeostasis | Any process involved in the maintenance of an internal steady state of fatty acid within an organism or cell. |
| nucleotide-excision repair, DNA gap filling | Repair of the gap in the DNA helix by DNA polymerase and DNA ligase after the portion of the strand containing the lesion has been removed by pyrimidine-dimer repair enzymes. |
| response to UV | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an ultraviolet radiation (UV light) stimulus. Ultraviolet radiation is electromagnetic radiation with a wavelength in the range of 10 to 380 nanometers. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P28339 | POLD1 | DNA polymerase delta catalytic subunit | Bos taurus (Bovine) | PR |
| P54358 | PolD1 | DNA polymerase delta catalytic subunit | Drosophila melanogaster (Fruit fly) | PR |
| P52431 | Pold1 | DNA polymerase delta catalytic subunit | Mus musculus (Mouse) | PR |
| O54747 | Pold1 | DNA polymerase delta catalytic subunit | Rattus norvegicus (Rat) | PR |
| Q9LRE6 | POLD1 | DNA polymerase delta catalytic subunit | Oryza sativa subsp japonica (Rice) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MDGKRRPGPG | PGVPPKRARG | GLWDDDDAPR | PSQFEEDLAL | MEEMEAEHRL | QEQEEEELQS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VLEGVADGQV | PPSAIDPRWL | RPTPPALDPQ | TEPLIFQQLE | IDHYVGPAQP | VPGGPPPSRG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SVPVLRAFGV | TDEGFSVCCH | IHGFAPYFYT | PAPPGFGPEH | MGDLQRELNL | AISRDSRGGR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ELTGPAVLAV | ELCSRESMFG | YHGHGPSPFL | RITVALPRLV | APARRLLEQG | IRVAGLGTPS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| FAPYEANVDF | EIRFMVDTDI | VGCNWLELPA | GKYALRLKEK | ATQCQLEADV | LWSDVVSHPP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| EGPWQRIAPL | RVLSFDIECA | GRKGIFPEPE | RDPVIQICSL | GLRWGEPEPF | LRLALTLRPC |
| 370 | 380 | 390 | 400 | 410 | 420 |
| APILGAKVQS | YEKEEDLLQA | WSTFIRIMDP | DVITGYNIQN | FDLPYLISRA | QTLKVQTFPF |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LGRVAGLCSN | IRDSSFQSKQ | TGRRDTKVVS | MVGRVQMDML | QVLLREYKLR | SYTLNAVSFH |
| 490 | 500 | 510 | 520 | 530 | 540 |
| FLGEQKEDVQ | HSIITDLQNG | NDQTRRRLAV | YCLKDAYLPL | RLLERLMVLV | NAVEMARVTG |
| 550 | 560 | 570 | 580 | 590 | 600 |
| VPLSYLLSRG | QQVKVVSQLL | RQAMHEGLLM | PVVKSEGGED | YTGATVIEPL | KGYYDVPIAT |
| 610 | 620 | 630 | 640 | 650 | 660 |
| LDFSSLYPSI | MMAHNLCYTT | LLRPGTAQKL | GLTEDQFIRT | PTGDEFVKTS | VRKGLLPQIL |
| 670 | 680 | 690 | 700 | 710 | 720 |
| ENLLSARKRA | KAELAKETDP | LRRQVLDGRQ | LALKVSANSV | YGFTGAQVGK | LPCLEISQSV |
| 730 | 740 | 750 | 760 | 770 | 780 |
| TGFGRQMIEK | TKQLVESKYT | VENGYSTSAK | VVYGDTDSVM | CRFGVSSVAE | AMALGREAAD |
| 790 | 800 | 810 | 820 | 830 | 840 |
| WVSGHFPSPI | RLEFEKVYFP | YLLISKKRYA | GLLFSSRPDA | HDRMDCKGLE | AVRRDNCPLV |
| 850 | 860 | 870 | 880 | 890 | 900 |
| ANLVTASLRR | LLIDRDPEGA | VAHAQDVISD | LLCNRIDISQ | LVITKELTRA | ASDYAGKQAH |
| 910 | 920 | 930 | 940 | 950 | 960 |
| VELAERMRKR | DPGSAPSLGD | RVPYVIISAA | KGVAAYMKSE | DPLFVLEHSL | PIDTQYYLEQ |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| QLAKPLLRIF | EPILGEGRAE | AVLLRGDHTR | CKTVLTGKVG | GLLAFAKRRN | CCIGCRTVLS |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| HQGAVCEFCQ | PRESELYQKE | VSHLNALEER | FSRLWTQCQR | CQGSLHEDVI | CTSRDCPIFY |
| 1090 | 1100 | ||||
| MRKKVRKDLE | DQEQLLRRFG | PPGPEAW |