Q9NVM4
PR
Gene name |
PRMT7 (KIAA1933) |
Protein name |
Protein arginine N-methyltransferase 7 |
Names |
Histone-arginine N-methyltransferase PRMT7, [Myelin basic protein]-arginine N-methyltransferase PRMT7 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:54496 |
EC number |
2.1.1.321: Methyltransferases |
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q9NVM4
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9NVM4-F1 | Predicted | AlphaFoldDB |
609 variants for Q9NVM4
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000256464 rs149170494 CA10588948 VAR_076329 |
32 | R>T | Short stature-brachydactyly-obesity-global developmental delay syndrome SBIDDS [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP TOPMed dbSNP gnomAD |
|
RCV000626798 RCV000763383 rs1014959895 RCV000806107 CA283235611 RCV002533154 |
108 | E>* | Short stature-brachydactyly-obesity-global developmental delay syndrome Acanthosis nigricans Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000681524 rs1567690011 |
144 | E>missing | Short stature-brachydactyly-obesity-global developmental delay syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs200195216 CA8127107 RCV001170005 |
152 | G>R | Short stature-brachydactyly-obesity-global developmental delay syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs770567326 RCV001266542 |
158 | S>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs138763605 CA8127117 RCV001796446 RCV001329104 |
167 | V>M | Short stature-brachydactyly-obesity-global developmental delay syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001390248 CA8127227 RCV000709800 rs372375423 |
274 | R>* | Short stature-brachydactyly-obesity-global developmental delay syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001267204 CA8127263 rs772735898 |
311 | R>W | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001199406 rs763953657 |
358 | R>missing | Short stature-brachydactyly-obesity-global developmental delay syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002547319 CA8127323 rs775110866 RCV001334039 |
360 | R>C | Variant assessed as Somatic; 0.0 impact. Short stature-brachydactyly-obesity-global developmental delay syndrome Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs762515973 CA8127340 RCV000256485 VAR_076330 |
387 | R>G | Short stature-brachydactyly-obesity-global developmental delay syndrome SBIDDS [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA396437136 rs1313637057 RCV002260535 |
407 | C>Y | Short stature-brachydactyly-obesity-global developmental delay syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1567721991 RCV000681525 |
416 | V>missing | Short stature-brachydactyly-obesity-global developmental delay syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs779212218 RCV001267203 CA8127446 |
468 | Q>* | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA8127489 rs751670999 RCV000256434 RCV001855017 RCV001266541 VAR_076331 |
494 | W>R | Short stature-brachydactyly-obesity-global developmental delay syndrome Inborn genetic diseases SBIDDS [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001198669 rs1201730206 RCV002561065 CA396439725 |
497 | R>W | Short stature-brachydactyly-obesity-global developmental delay syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1567739042 RCV001199929 |
501 | D>missing | Short stature-brachydactyly-obesity-global developmental delay syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1251713297 CA396441640 RCV000626797 |
571 | C>* | Acanthosis nigricans [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs377019678 RCV001334040 CA8127619 |
576 | E>K | Short stature-brachydactyly-obesity-global developmental delay syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA8127717 rs143131470 RCV000888022 RCV003130084 |
649 | V>I | Short stature-brachydactyly-obesity-global developmental delay syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000790984 CA283255893 rs1033540334 |
650 | Y>C | Short stature-brachydactyly-obesity-global developmental delay syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1213552693 CA396446070 |
4 | F>L | No |
ClinGen gnomAD |
|
|
CA8126916 rs762489148 |
4 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA396446083 rs1567626667 |
5 | C>R | No |
ClinGen Ensembl |
|
|
CA396446093 rs1487032372 |
6 | S>G | No |
ClinGen gnomAD |
|
|
rs764514742 CA396446103 |
6 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8126917 rs764514742 |
6 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs566483423 CA396446111 |
7 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs566483423 CA8126920 |
7 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs147231817 CA8126919 |
7 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM704398 CA283267181 rs867714715 |
8 | A>T | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs781733373 CA8126921 COSM1302169 |
9 | N>S | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA8126922 rs750783966 |
10 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA283267214 rs756452564 |
10 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756452564 CA8126923 |
10 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375791731 CA8126926 |
12 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 13 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA396446172 rs1361091671 |
14 | S>C | No |
ClinGen gnomAD |
|
|
rs1295361744 CA396446205 |
17 | W>* | No |
ClinGen gnomAD |
|
|
rs747023617 CA8126928 |
18 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA8126930 rs201784585 |
19 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA283267249 rs199531794 |
20 | E>* | No |
ClinGen Ensembl |
|
|
CA8126932 rs776461119 |
20 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA8126934 rs769471774 |
21 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA8126933 rs759282162 |
21 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA283267256 rs200800825 |
21 | D>N | No |
ClinGen 1000Genomes |
|
|
rs910672785 CA283267272 |
22 | E>G | No |
ClinGen TOPMed |
|
|
CA8126936 rs762383791 |
25 | D>H | No |
ClinGen ExAC gnomAD |
|
|
RCV001223769 rs2081811652 |
26 | Y>missing | No |
ClinVar dbSNP |
|
|
rs1259188933 CA396446298 |
26 | Y>H | No |
ClinGen gnomAD |
|
|
rs1597099078 CA396446311 |
27 | H>Y | No |
ClinGen Ensembl |
|
|
CA8126937 rs763719331 |
28 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1180746189 CA396446336 |
29 | E>D | No |
ClinGen gnomAD |
|
|
CA8126939 rs762421654 |
30 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8126938 rs773731513 |
30 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396446348 rs1156908220 |
31 | A>S | No |
ClinGen gnomAD |
|
|
CA396446812 rs1421958625 |
32 | R>S | No |
ClinGen gnomAD |
|
|
rs765332204 CA8126965 |
37 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs758410478 CA8126967 |
40 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs781120921 CA8126968 |
42 | K>T | No |
ClinGen ExAC |
|
|
rs745865185 CA8126969 |
43 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8127004 rs368653869 |
47 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8127005 rs764280418 |
47 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1452965682 CA396429715 |
49 | Y>C | No |
ClinGen gnomAD |
|
|
rs751659866 CA8127006 |
49 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs2082897416 RCV001264713 |
50 | Q>* | No |
ClinVar dbSNP |
|
|
CA396429731 rs1173466720 |
50 | Q>R | No |
ClinGen gnomAD |
|
|
CA396429759 rs1462220372 |
52 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs143219221 CA8127009 |
53 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8127008 rs756722562 |
53 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8127010 rs527256441 |
55 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA396429793 rs1326514480 |
55 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs201398485 CA283234036 |
56 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8127013 rs201398485 |
56 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA396429804 rs1277379627 |
57 | S>R | No |
ClinGen TOPMed |
|
|
CA396429809 rs1397730520 |
58 | R>T | No |
ClinGen TOPMed |
|
|
CA8127014 rs371337873 |
59 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8127015 rs202175390 |
61 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1229944778 CA396429826 |
61 | D>N | No |
ClinGen gnomAD |
|
|
rs965794527 CA283234038 |
62 | R>G | No |
ClinGen Ensembl |
|
| TCGA novel | 63 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA396429850 rs1214785693 |
64 | Q>R | No |
ClinGen gnomAD |
|
|
rs1394973004 CA396429875 |
68 | V>L | No |
ClinGen TOPMed |
|
|
CA396429881 rs1400645701 |
69 | L>V | No |
ClinGen TOPMed |
|
|
rs374317868 CA8127016 |
70 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs746429506 CA8127018 |
71 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs1423342177 CA396429895 |
71 | I>T | No |
ClinGen TOPMed |
|
|
CA8127019 rs746429506 |
71 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs749607935 CA8127021 |
73 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371698853 CA283234042 |
75 | T>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA396429929 rs1279350128 |
77 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs774488197 CA8127023 |
77 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs761964657 CA8127025 |
79 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs200836388 CA283234046 |
80 | M>V | No |
ClinGen ESP TOPMed |
|
|
CA8127026 rs767551223 COSM194544 |
82 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA396429970 rs1597197544 |
83 | V>G | No |
ClinGen Ensembl |
|
|
CA396429980 rs1243665152 |
85 | A>E | No |
ClinGen TOPMed |
|
|
rs765241419 CA8127029 |
86 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs531518221 CA8127032 |
87 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs199750494 CA8127030 |
87 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8127031 rs199750494 |
87 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA283234048 rs377261290 |
88 | D>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA8127035 rs780608603 |
89 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs370568571 CA8127034 |
89 | F>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA396429999 rs370568571 |
89 | F>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8127036 rs148293677 |
91 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8127039 rs749656743 RCV001314941 |
94 | E>K | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA396430280 rs1443590916 |
96 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 96 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1342394887 CA396430292 |
98 | P>R | No |
ClinGen gnomAD |
|
|
CA8127066 rs768696761 |
98 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774040260 CA8127067 |
99 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA283235606 rs970114895 |
99 | M>V | No |
ClinGen gnomAD |
|
|
CA396430312 rs1597245319 |
101 | D>G | No |
ClinGen Ensembl |
|
|
rs1597245350 CA396430351 |
104 | V>G | No |
ClinGen Ensembl |
|
|
CA8127068 rs756450694 |
105 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1480836801 CA396430372 |
106 | I>V | No |
ClinGen TOPMed |
|
|
CA396430394 rs1014959895 |
108 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA8127069 rs767078990 |
111 | G>C | No |
ClinGen ExAC |
|
|
rs200515065 CA8127072 |
114 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA283235626 rs931129399 |
116 | I>M | No |
ClinGen TOPMed |
|
|
rs753314761 CA8127073 |
116 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396430561 rs1464140596 |
118 | V>F | No |
ClinGen gnomAD |
|
|
CA8127075 rs779426166 |
120 | N>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA396430602 rs1309780675 |
121 | K>E | No |
ClinGen TOPMed |
|
|
rs753033088 CA8127076 |
121 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA283235647 rs866730909 |
122 | H>N | No |
ClinGen Ensembl |
|
| TCGA novel | 122 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1360602850 CA396430660 |
125 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA396430690 rs1278444447 |
127 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
CA283235658 rs754007433 |
128 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754007433 CA8127082 |
128 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768510179 CA8127083 |
129 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1483598889 CA396433022 |
131 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs764561131 CA8127097 |
132 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA396433032 rs1411877929 |
133 | D>Y | No |
ClinGen gnomAD |
|
|
CA396433039 rs1238555716 |
134 | M>V | No |
ClinGen TOPMed |
|
|
rs141441180 CA396433051 |
135 | P>L | No |
ClinGen ESP TOPMed |
|
|
rs141441180 CA283239680 |
135 | P>R | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 136 | C>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751951164 COSM972734 CA8127098 |
137 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
COSM1189301 rs757578719 CA8127099 |
137 | R>H | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs757578719 CA396433062 |
137 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA283239687 rs182075717 |
138 | A>T | No |
ClinGen 1000Genomes gnomAD |
|
|
rs375561248 CA8127103 |
142 | V>F | No |
ClinGen ESP ExAC |
|
|
rs1444203492 CA396433099 |
143 | T>I | No |
ClinGen gnomAD |
|
|
CA396433124 rs1567690051 |
147 | D>H | No |
ClinGen Ensembl |
|
|
CA8127104 rs748180107 |
149 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA396433147 rs1378382278 |
150 | L>P | No |
ClinGen TOPMed |
|
|
rs771868763 CA8127106 |
151 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369694211 CA8127108 |
152 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8127109 rs776198070 |
154 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA8127110 rs759177827 |
155 | A>T | No |
ClinGen ExAC gnomAD |
|
|
COSM369425 rs371750232 CA8127111 |
155 | A>V | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA283239722 rs939578442 |
159 | Y>* | No |
ClinGen Ensembl |
|
|
rs141699263 CA8127113 |
159 | Y>C | No |
ClinGen ESP ExAC |
|
|
rs764463683 CA8127115 |
162 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1311161598 CA396433222 |
163 | H>D | No |
ClinGen gnomAD |
|
|
CA396433220 rs1311161598 |
163 | H>Y | No |
ClinGen gnomAD |
|
|
rs1256842568 CA396433254 |
168 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 169 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8127133 rs774943404 |
170 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs764705851 CA8127132 |
170 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1457564461 CA396433437 |
171 | C>F | No |
ClinGen gnomAD |
|
|
rs762394516 CA8127134 |
171 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs547936717 CA8127135 |
173 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761001815 CA8127137 |
174 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8127138 rs761001815 |
174 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396433472 rs1196314419 |
175 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA396433489 rs1465711756 |
176 | H>R | No |
ClinGen gnomAD |
|
|
CA8127139 rs753981600 |
176 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1479285422 CA396433522 |
179 | T>A | No |
ClinGen TOPMed |
|
|
CA8127141 rs574086937 |
180 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8127142 rs751566875 |
181 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751566875 CA283240648 |
181 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1519784 rs1293882145 CA396433596 |
185 | V>L | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs139075580 CA8127143 |
187 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8127145 rs373343581 |
188 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8127146 rs541030028 |
190 | M>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8127147 rs779510373 |
191 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs993358584 CA283240669 |
192 | S>L | No |
ClinGen gnomAD |
|
|
CA8127149 rs768341792 |
195 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1198944229 CA396433789 |
199 | I>V | No |
ClinGen TOPMed |
|
|
rs201972168 CA8127151 |
200 | H>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8127154 rs760907558 |
201 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs773644503 CA8127153 |
201 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1567696753 CA396433837 |
202 | Q>H | No |
ClinGen Ensembl |
|
|
CA8127157 rs759739914 |
206 | G>E | No |
ClinGen ExAC gnomAD |
|
|
COSM704397 rs753947184 CA8127156 |
206 | G>R | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA8127158 rs765342172 |
207 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA283240711 rs1046864753 |
208 | Q>* | No |
ClinGen TOPMed |
|
|
rs1567696902 CA396433931 |
210 | I>V | No |
ClinGen Ensembl |
|
|
rs766621192 CA8127161 |
211 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA396433981 rs779888800 |
214 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779888800 COSM175899 CA8127164 |
214 | V>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs768390543 CA8127166 |
216 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768390543 CA8127167 |
216 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747609401 CA8127168 |
217 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs772736809 CA8127169 |
218 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1188791748 CA396434027 |
219 | C>F | No |
ClinGen TOPMed |
|
|
CA283240745 rs899584898 |
221 | G>C | No |
ClinGen Ensembl |
|
|
CA8127173 rs200868147 |
222 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8127172 rs200868147 |
222 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs549564810 CA283240757 |
222 | A>V | No |
ClinGen 1000Genomes |
|
|
CA283240773 rs967885863 |
223 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA8127175 rs143966311 |
223 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8127176 rs143966311 |
223 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8127178 rs762957394 |
224 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8127180 rs750388230 |
226 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs921045426 CA283240785 |
228 | I>N | No |
ClinGen TOPMed |
|
|
rs756076819 CA8127181 |
228 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs766124785 CA8127182 |
229 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8127183 rs367565666 |
229 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375426995 CA8127184 |
232 | Q>* | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8127185 rs778664504 |
232 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA283240796 rs1031840720 |
233 | V>L | No |
ClinGen TOPMed |
|
|
rs747664723 CA8127186 |
235 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA8127187 rs757923792 |
236 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs771448125 CA8127190 |
237 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA8127189 rs144242458 |
237 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA396434125 rs144242458 |
237 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA396434135 rs1315767951 |
238 | F>C | No |
ClinGen gnomAD |
|
|
rs1210168318 CA396434136 |
238 | F>L | No |
ClinGen gnomAD |
|
|
CA396434139 rs1238748033 |
239 | T>A | No |
ClinGen gnomAD |
|
|
rs1283357350 CA396434143 |
239 | T>I | No |
ClinGen TOPMed |
|
|
rs775635305 CA8127194 |
243 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396434178 rs764148997 |
245 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1415308667 CA396434179 |
245 | L>Q | No |
ClinGen gnomAD |
|
|
CA396434197 rs1357567644 |
248 | F>I | No |
ClinGen gnomAD |
|
|
CA8127216 rs761909113 |
249 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA396434224 rs1276274727 |
250 | I>L | No |
ClinGen gnomAD |
|
|
rs1276274727 CA396434223 |
250 | I>V | No |
ClinGen gnomAD |
|
|
rs770775042 COSM1609554 CA8127217 |
251 | D>N | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA8127218 rs776652017 |
254 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8127220 rs765188527 |
255 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs765188527 CA8127221 |
255 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA8127222 rs762537213 |
256 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396434275 rs1271940496 |
257 | S>I | No |
ClinGen gnomAD |
|
|
rs763764302 CA8127223 |
258 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA396434285 rs1223988233 |
259 | S>P | No |
ClinGen gnomAD |
|
|
rs1245231949 CA396434296 |
260 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 264 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA283240951 rs1053328347 |
264 | S>N | No |
ClinGen Ensembl |
|
|
CA283240954 rs896071644 |
265 | R>G | No |
ClinGen Ensembl |
|
|
rs756734451 CA8127225 |
266 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8127224 COSM704395 rs751037036 |
266 | R>W | lung Variant assessed as Somatic; 0.0 impact. pancreas [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1477123746 CA396434358 |
270 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs372375423 CA8127228 |
274 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200225862 CA396434380 |
274 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200225862 CA8127229 |
274 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA283240971 rs200093947 |
280 | S>L | No |
ClinGen gnomAD |
|
|
rs1363309659 CA396434414 |
280 | S>T | No |
ClinGen gnomAD |
|
|
rs1020911811 CA283240984 |
282 | W>* | No |
ClinGen TOPMed |
|
|
CA396434435 rs1020911811 |
282 | W>C | No |
ClinGen TOPMed |
|
|
rs375402849 CA8127234 |
283 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA396434440 rs1341840293 |
283 | D>G | No |
ClinGen gnomAD |
|
|
rs1269542602 CA396434453 |
285 | E>A | No |
ClinGen gnomAD |
|
|
CA396434459 rs1356736983 |
286 | M>V | No |
ClinGen gnomAD |
|
|
rs757988955 CA283240992 |
290 | G>R | No |
ClinGen TOPMed |
|
|
rs757988955 CA396434490 |
290 | G>W | No |
ClinGen TOPMed |
|
|
rs967854598 CA283240995 |
293 | K>R | No |
ClinGen TOPMed |
|
|
CA8127237 rs769806366 |
294 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs775458881 CA8127238 |
296 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396434529 rs775458881 |
296 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8127239 rs762742697 |
297 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA8127240 rs763667637 |
299 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8127241 rs751287917 |
300 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs761372047 CA8127242 |
300 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA8127243 rs767625676 |
301 | A>AKCHCQ* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 301 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8127244 rs767056912 |
302 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8127245 rs749916174 |
303 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs746733414 CA283241024 |
303 | S>A | No |
ClinGen Ensembl |
|
|
rs541490828 CA283241029 |
305 | P>Q | No |
ClinGen 1000Genomes |
|
|
CA283241037 rs1027607046 |
306 | E>A | No |
ClinGen Ensembl |
|
|
rs780495139 CA8127247 |
306 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 307 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1597361460 CA396434801 |
308 | M>I | No |
ClinGen Ensembl |
|
|
CA396434809 rs1317068382 |
309 | Q>* | No |
ClinGen gnomAD |
|
|
CA396434807 rs1317068382 |
309 | Q>E | No |
ClinGen gnomAD |
|
|
CA396434815 rs1340965663 |
309 | Q>R | No |
ClinGen gnomAD |
|
|
CA396435525 rs1316138681 |
310 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA396435526 rs772735898 |
311 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1195501851 CA396435527 |
311 | R>Q | No |
ClinGen gnomAD |
|
|
CA283243317 rs564202078 |
312 | D>E | No |
ClinGen 1000Genomes |
|
|
rs1385694534 CA396435570 |
316 | Q>H | No |
ClinGen TOPMed |
|
|
CA8127265 rs145524261 |
317 | C>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145524261 CA283243321 |
317 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8127266 rs370186920 |
318 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA396435583 rs1347235878 |
319 | Y>H | No |
ClinGen gnomAD |
|
|
rs1202276710 CA396435585 |
319 | Y>S | No |
ClinGen gnomAD |
|
|
rs765674632 CA8127268 |
320 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA396435602 rs1268820590 |
322 | P>T | No |
ClinGen gnomAD |
|
|
rs1567715466 CA396435612 |
323 | Q>R | No |
ClinGen Ensembl |
|
|
rs778075550 CA8127271 |
324 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747100680 CA8127272 |
325 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772060110 CA283243335 |
325 | E>D | No |
ClinGen gnomAD |
|
|
CA283243332 rs747100680 |
325 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8127273 rs757471733 |
326 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1405242371 CA396435640 |
328 | V>L | No |
ClinGen gnomAD |
|
|
rs1405242371 CA396435639 |
328 | V>M | No |
ClinGen gnomAD |
|
|
rs774227525 CA8127277 |
329 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs747894195 CA8127278 |
330 | G>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA396435654 rs1425224630 |
330 | G>C | No |
ClinGen gnomAD |
|
|
rs1390982903 CA396435661 |
331 | S>L | No |
ClinGen gnomAD |
|
|
CA396435663 rs1302275373 |
332 | A>T | No |
ClinGen gnomAD |
|
|
rs771712882 CA8127279 |
332 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396435673 rs1282781416 |
333 | L>P | No |
ClinGen gnomAD |
|
|
rs760304168 CA8127281 |
334 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8127282 rs765938169 |
336 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA396435691 rs1249905566 |
337 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA396435715 rs1267579170 |
340 | D>N | No |
ClinGen gnomAD |
|
|
CA396435714 rs1267579170 |
340 | D>Y | No |
ClinGen gnomAD |
|
|
CA8127285 rs765611973 |
341 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs61729918 CA283243366 |
341 | D>N | No |
ClinGen Ensembl |
|
|
CA396435727 rs1428075269 |
342 | Y>N | No |
ClinGen gnomAD |
|
|
CA8127286 rs753111275 |
342 | Y>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 343 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs138848888 CA8127288 |
344 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8127290 rs757525215 |
346 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA396435769 rs1330643490 |
347 | S>R | No |
ClinGen Ensembl |
|
|
CA396435784 rs1338667729 |
350 | R>G | No |
ClinGen TOPMed |
|
|
rs780651761 CA8127319 |
353 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA283243577 rs776366781 |
354 | E>K | No |
ClinGen Ensembl |
|
|
rs769256516 CA8127321 |
355 | K>N | No |
ClinGen ExAC |
|
|
CA396436288 rs1567717396 |
356 | N>K | No |
ClinGen Ensembl |
|
|
rs1401752574 CA396436309 |
358 | R>G | No |
ClinGen TOPMed |
|
| rs763953657 | 358 | R>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8127324 RCV000909999 rs145640515 |
360 | R>H | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA8127325 rs145640515 |
360 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8127326 rs774892163 |
361 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1381130985 CA396436349 |
361 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA8127328 rs762020291 |
363 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762020291 CA8127327 |
363 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370246355 CA8127329 |
363 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370246355 CA283243617 |
363 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 365 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA396436392 rs201641068 |
365 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201641068 CA8127331 |
365 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA283243635 rs548916099 |
367 | D>A | No |
ClinGen TOPMed |
|
|
rs758354490 CA8127333 |
369 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1377163520 CA396436423 |
369 | Q>R | No |
ClinGen gnomAD |
|
|
rs934814700 CA283243660 |
376 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs141870610 CA8127335 |
376 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA396436481 rs1210663562 |
377 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs757058334 CA8127336 |
378 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1264960200 CA396436489 |
378 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA8127337 rs781038437 |
379 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA396436525 rs1332841413 |
381 | E>Q | No |
ClinGen TOPMed |
|
|
CA396436532 rs1238636471 |
381 | E>V | No |
ClinGen gnomAD |
|
|
rs201971379 CA8127338 |
382 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1471245442 CA396436545 |
382 | I>S | No |
ClinGen gnomAD |
|
|
rs1407288002 CA396436556 |
383 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA283243671 rs927261686 |
384 | D>G | No |
ClinGen TOPMed |
|
|
rs1433875683 CA396436591 |
385 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1469790510 CA396436630 |
388 | T>N | No |
ClinGen gnomAD |
|
|
rs769295606 CA8127342 |
389 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774937129 CA8127343 COSM972738 |
390 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs772382705 CA8127345 |
390 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 391 | Y>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8127346 rs773593082 |
392 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA8127347 rs760854347 |
393 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396436958 rs1567721655 |
399 | L>P | No |
ClinGen Ensembl |
|
|
rs952290677 CA283244090 |
402 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1403767502 CA396437035 |
402 | D>G | No |
ClinGen gnomAD |
|
|
CA396437026 rs1363122168 |
402 | D>H | No |
ClinGen gnomAD |
|
|
rs767452585 CA8127373 |
404 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA396437176 rs1383275317 |
409 | S>R | No |
ClinGen gnomAD |
|
|
CA8127374 rs750193958 |
410 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1289900238 CA396437274 |
411 | G>D | No |
ClinGen gnomAD |
|
|
rs769775411 COSM1726105 CA283244104 |
411 | G>S | liver [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1289900238 CA396437268 |
411 | G>V | No |
ClinGen gnomAD |
|
|
CA396437288 rs1359039382 |
412 | S>N | No |
ClinGen gnomAD |
|
|
COSM1379105 rs369694606 CA8127376 |
416 | V>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA8127377 rs565319392 |
418 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs867502903 CA283244116 |
419 | H>N | No |
ClinGen gnomAD |
|
|
rs867502903 CA396437442 |
419 | H>Y | No |
ClinGen gnomAD |
|
|
rs1182174702 CA396437487 |
420 | H>Q | No |
ClinGen gnomAD |
|
|
CA8127378 rs754643380 |
420 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1386497304 CA396437525 |
422 | G>E | No |
ClinGen gnomAD |
|
|
rs146284050 CA8127379 |
422 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA396437545 rs1597429351 |
423 | V>G | No |
ClinGen Ensembl |
|
|
rs752201536 CA8127380 |
423 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA8127381 rs752201536 |
423 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA396437613 rs1383197954 |
425 | Q>R | No |
ClinGen gnomAD |
|
|
CA8127395 rs759282522 |
428 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs757867505 CA8127398 |
430 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs1326277304 CA396437856 |
430 | E>V | No |
ClinGen gnomAD |
|
|
CA396437869 rs1183359853 |
431 | S>G | No |
ClinGen TOPMed |
|
|
rs1262142351 CA396437879 |
431 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs147831063 CA8127400 |
433 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1350821780 CA396437970 |
435 | S>C | No |
ClinGen Ensembl |
|
|
rs752101995 CA8127401 |
437 | K>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8127404 rs781561656 |
439 | L>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 442 | I>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780281804 CA8127426 |
442 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA8127427 rs749561274 |
445 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141757899 CA8127429 |
448 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748196122 CA8127430 |
450 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs776651889 CA8127432 |
451 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA8127434 rs375976443 |
454 | I>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8127435 rs775126611 |
455 | I>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA283244580 rs775126611 |
455 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1264423626 CA396438462 |
455 | I>V | No |
ClinGen gnomAD |
|
|
CA8127437 rs763616221 |
458 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8127436 COSM1379106 rs200159195 |
458 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs761252569 CA8127439 |
459 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396438521 rs761252569 |
459 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8127440 rs761252569 |
459 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8127442 rs115945949 |
462 | L>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8127443 rs115945949 |
462 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA396438547 rs1163002761 |
463 | T>I | No |
ClinGen gnomAD |
|
|
CA396438548 rs1455751888 |
464 | N>H | No |
ClinGen gnomAD |
|
|
rs1287664332 CA396438553 |
464 | N>I | No |
ClinGen gnomAD |
|
|
rs375549915 CA396438563 |
465 | E>D | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 466 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1384926589 CA396438573 |
467 | L>V | No |
ClinGen gnomAD |
|
|
CA396438594 rs1384543806 |
470 | R>I | No |
ClinGen TOPMed gnomAD |
|
|
rs918817730 CA283246259 |
473 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1179239735 CA396439399 |
474 | L>I | No |
ClinGen gnomAD |
|
|
rs1179239735 CA396439402 |
474 | L>V | No |
ClinGen gnomAD |
|
|
rs747851176 CA8127479 |
476 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs747851176 CA8127478 |
476 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs117146142 CA8127482 |
478 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA396439477 rs1441232897 |
479 | P>L | No |
ClinGen TOPMed |
|
|
rs1489820941 CA396439516 |
482 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1405427840 COSM558570 CA396439588 |
487 | P>L | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA8127487 rs763298629 |
489 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs150533140 CA8127488 |
490 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 490 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1273533363 CA396439640 |
491 | L>F | No |
ClinGen gnomAD |
|
|
CA396439637 rs1273533363 |
491 | L>I | No |
ClinGen gnomAD |
|
|
rs1488156344 CA396439656 |
492 | Y>C | No |
ClinGen TOPMed |
|
|
CA8127491 rs745954149 |
496 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs753756119 CA8127492 |
497 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200673076 CA283246321 |
498 | T>S | No |
ClinGen Ensembl |
|
|
CA396439746 rs376022174 |
499 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376022174 CA8127495 |
499 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8127494 rs376022174 |
499 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA396439751 rs1422101412 |
499 | A>V | No |
ClinGen gnomAD |
|
|
rs1413929237 CA396439761 |
500 | V>A | No |
ClinGen Ensembl |
|
|
CA8127497 rs777236063 |
502 | Q>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 503 | H>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1369357186 CA396439819 |
504 | L>Q | No |
ClinGen gnomAD |
|
|
CA396439844 rs1304493050 |
506 | P>Q | No |
ClinGen gnomAD |
|
|
CA8127499 rs139519175 |
508 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA396439885 rs1363847436 |
509 | M>I | No |
ClinGen gnomAD |
|
|
CA396439877 rs1270498416 |
509 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
CA396439873 rs1435681470 |
509 | M>V | No |
ClinGen gnomAD |
|
|
CA396439894 rs1421302078 |
510 | V>A | No |
ClinGen TOPMed |
|
|
CA283246340 rs933837057 |
510 | V>M | No |
ClinGen gnomAD |
|
|
CA283246343 rs895910538 |
512 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA396439922 rs895910538 |
512 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA396439929 rs1289762550 |
513 | Q>* | No |
ClinGen gnomAD |
|
|
rs746426130 CA8127501 |
514 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA396439973 rs1217149803 COSM3795031 |
516 | S>L | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs149581712 CA8127504 |
518 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8127502 rs770383732 |
518 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA8127505 rs537782188 |
519 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA8127506 rs375627467 |
519 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8127508 rs762060510 |
521 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA8127507 rs762060510 |
521 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1261466736 CA396440073 |
525 | R>S | No |
ClinGen TOPMed |
|
|
CA396440093 rs761723324 |
526 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8127556 rs144149707 COSM435578 |
529 | R>Q | breast [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA8127555 rs750137705 |
529 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA396440118 rs1203793119 |
530 | I>M | No |
ClinGen gnomAD |
|
|
rs753355037 CA8127558 |
531 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753355037 CA396440120 |
531 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8127557 rs147358081 |
531 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8127559 rs772978483 |
532 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8127560 rs779422206 |
537 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA396440164 rs1449167583 |
538 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA8127563 rs760444257 |
541 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396440218 rs374121002 |
542 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374121002 CA8127565 |
542 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765949660 CA8127566 |
543 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs1177824512 CA396440234 |
543 | H>R | No |
ClinGen TOPMed |
|
|
rs765949660 CA8127567 |
543 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1567743666 CA396440254 |
544 | I>M | No |
ClinGen Ensembl |
|
|
CA283246827 rs367995240 |
545 | M>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA283246832 rs61746794 |
546 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1362575188 CA396440279 |
546 | D>V | No |
ClinGen gnomAD |
|
|
rs769748209 CA8127568 |
546 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA396440290 rs145643416 |
547 | D>H | No |
ClinGen ESP gnomAD |
|
|
rs145643416 CA283246838 |
547 | D>N | No |
ClinGen ESP gnomAD |
|
|
CA8127601 rs145433823 |
551 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8127602 rs145433823 |
551 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs148768244 CA8127604 |
551 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA396441203 rs148768244 |
551 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8127603 rs145433823 |
551 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs749256338 CA8127605 |
552 | A>V | No |
ClinGen ExAC |
|
|
rs1373450521 CA396441233 |
553 | L>P | No |
ClinGen gnomAD |
|
|
CA396441225 rs1235019635 |
553 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs772151962 CA8127606 |
555 | F>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 555 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773344935 CA8127607 |
557 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770892656 CA8127609 |
560 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs201014314 CA8127610 |
561 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA396441461 rs1447182587 |
563 | P>R | No |
ClinGen TOPMed |
|
|
CA396441455 rs1369163333 |
563 | P>S | No |
ClinGen Ensembl |
|
|
CA396441472 rs1250427531 |
564 | H>Y | No |
ClinGen TOPMed |
|
|
rs759256772 CA8127611 |
565 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs759256772 CA396441506 |
565 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs764757395 CA8127612 |
569 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1212694854 CA396441604 |
570 | P>A | No |
ClinGen TOPMed |
|
|
rs142409553 CA8127613 |
572 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369482343 CA8127614 |
572 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs369482343 CA8127615 |
572 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8127617 rs61745807 |
573 | S>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs61745807 CA8127616 RCV000513962 |
573 | S>N | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs200782604 CA8127618 |
575 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8127620 rs756359319 |
577 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs1431078597 CA396441715 |
577 | P>S | No |
ClinGen gnomAD |
|
|
rs568991700 CA8127621 |
578 | W>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA283254261 rs371311263 |
579 | Q>L | No |
ClinGen Ensembl |
|
|
CA8127622 rs754103598 |
580 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1365268323 CA396441809 |
584 | D>H | No |
ClinGen gnomAD |
|
|
CA396441838 rs1218469962 |
585 | F>L | No |
ClinGen gnomAD |
|
|
rs370795284 CA8127626 |
588 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8127625 rs746995979 |
588 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA283254285 rs1027869013 |
590 | P>L | No |
ClinGen TOPMed |
|
|
CA396441911 rs1423680978 |
591 | L>V | No |
ClinGen TOPMed |
|
|
rs745583696 CA8127628 |
592 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs769501153 CA8127629 |
592 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs775071540 CA396441938 |
593 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1187518416 CA396441946 |
593 | P>H | No |
ClinGen gnomAD |
|
|
rs775071540 CA8127630 |
593 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1390386790 RCV001008917 |
594 | L>missing | No |
ClinVar dbSNP |
|
|
rs1166102907 CA396441969 |
595 | C>* | No |
ClinGen gnomAD |
|
|
CA8127631 rs762559370 COSM558569 |
595 | C>Y | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs572787826 CA8127634 |
597 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA283254380 rs146543136 |
600 | V>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs758466691 CA396442778 |
605 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs764201606 CA8127663 |
605 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA8127662 rs758466691 |
605 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs756029692 COSM704394 CA8127665 |
606 | G>R | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1416385989 CA396442820 |
607 | Q>H | No |
ClinGen gnomAD |
|
|
CA396442805 rs1158217815 |
607 | Q>K | No |
ClinGen gnomAD |
|
|
CA396442814 rs1403173118 |
607 | Q>R | No |
ClinGen gnomAD |
|
|
CA396442830 rs1426662195 |
608 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA8127667 rs749012524 |
610 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA396442871 rs1290731644 |
611 | A>T | No |
ClinGen gnomAD |
|
|
CA8127668 rs201638964 |
611 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs747836156 CA8127670 |
616 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA283255389 rs937790204 |
618 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1056037756 CA283255406 |
620 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs529555935 CA283255413 |
621 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA TOPMed gnomAD |
|
CA8127674 rs771526126 |
622 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs777140545 CA8127675 |
623 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs765684694 CA396443056 |
624 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775894152 CA8127679 |
624 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765684694 CA8127678 |
624 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1302353254 CA396443101 |
627 | T>I | No |
ClinGen gnomAD |
|
|
rs1302353254 CA396443100 |
627 | T>S | No |
ClinGen gnomAD |
|
|
rs1231578101 CA396443118 |
629 | L>F | No |
ClinGen gnomAD |
|
|
rs751617555 CA8127682 |
632 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756005762 CA8127683 |
633 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8127685 rs753759879 |
636 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396443298 rs145555776 CA8127711 |
637 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA396443301 rs145555776 |
637 | G>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA396443314 rs1210407098 |
638 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1210407098 CA396443309 |
638 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs138108105 COSM3691120 CA8127713 |
639 | C>R | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs567868195 CA8127714 |
643 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs543076180 CA283255861 |
647 | Q>* | No |
ClinGen Ensembl |
|
|
rs1187906576 CA396443506 |
648 | A>D | No |
ClinGen gnomAD |
|
|
CA396443499 rs1422532479 |
648 | A>P | No |
ClinGen gnomAD |
|
|
CA396443535 rs1033540334 |
650 | Y>S | No |
ClinGen Ensembl |
|
|
rs562766169 RCV003151177 RCV000883997 |
652 | F>missing | No |
ClinVar dbSNP |
|
|
rs1163903066 CA396443612 |
653 | S>C | No |
ClinGen TOPMed |
|
|
rs944193821 CA283255908 |
653 | S>N | No |
ClinGen TOPMed |
|
|
CA8127720 rs772191275 |
654 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA8127719 rs554205251 |
654 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1452621113 CA396443653 |
655 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs773229535 CA8127721 |
655 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA283255925 rs1041486594 |
656 | P>S | No |
ClinGen TOPMed |
|
|
rs897254737 CA283255940 |
659 | R>G | No |
ClinGen TOPMed |
|
|
rs759505064 CA8127722 |
663 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs989259018 CA283255952 |
665 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs765159160 CA8127723 |
665 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA283255954 rs989259018 |
665 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs989259018 CA396443851 |
665 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA283255966 rs373885355 |
666 | R>Q | No |
ClinGen ESP TOPMed |
|
|
CA8127724 rs370836322 |
666 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV000890215 rs201026938 CA8127725 |
667 | T>A | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs201026938 CA8127726 |
667 | T>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs756918847 CA8127728 |
668 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs780878283 CA8127729 |
669 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8127730 rs749884550 |
670 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs1324756690 CA396444058 |
673 | E>K | No |
ClinGen gnomAD |
|
|
rs1597544859 CA396444139 |
675 | H>P | No |
ClinGen Ensembl |
|
|
rs201761317 CA8127733 |
675 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA283256011 rs982042039 |
676 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs982042039 CA396444165 |
676 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA396444154 rs1430345667 |
676 | P>T | No |
ClinGen gnomAD |
|
|
rs368511164 CA8127735 |
677 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769102361 CA8127736 |
678 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746215128 CA283256060 COSM3421108 |
680 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA8127738 rs748395258 |
683 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs201945171 CA283256070 CA8127740 |
685 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs773288771 COSM471986 CA8127741 |
686 | R>G | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs868646919 CA283256094 |
687 | H>P | No |
ClinGen TOPMed |
|
|
CA283256100 rs868646919 |
687 | H>R | No |
ClinGen TOPMed |
|
|
rs1285817888 CA396444513 |
690 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA8127743 rs369486726 |
691 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8127744 rs369486726 |
691 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA283256144 rs369486726 |
691 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1470225365 CA396444526 |
691 | P>S | No |
ClinGen TOPMed |
No associated diseases with Q9NVM4
1 regional properties for Q9NVM4
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | F-box domain | 49 - 97 | IPR001810 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.1.1.321 | Methyltransferases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| fibrillar center | A structure found most metazoan nucleoli, but not usually found in lower eukaryotes; surrounded by the dense fibrillar component; the zone of transcription from multiple copies of the pre-rRNA genes is in the border region between these two structures. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| 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. |
8 GO annotations of molecular function
| Name | Definition |
|---|---|
| [myelin basic protein]-arginine N-methyltransferase activity | Catalysis of the reaction: S-adenosyl-L-methionine + (myelin basic protein)-arginine = S-adenosyl-L-homocysteine + (myelin basic protein)-N(omega)-methyl-arginine. |
| histone binding | Binding to a histone, any of a group of water-soluble proteins found in association with the DNA of eukaryotic or archaeal chromosomes. They are involved in the condensation and coiling of chromosomes during cell division and have also been implicated in gene regulation and DNA replication. They may be chemically modified (methylated, acetlyated and others) to regulate gene transcription. |
| histone methyltransferase activity (H4-R3 specific) | Catalysis of the reaction: S-adenosyl-L-methionine + (histone H4)-arginine (position 3) = S-adenosyl-L-homocysteine + (histone H4)-N-methyl-arginine (position 3). This reaction is the addition of a methyl group to arginine at position 3 of histone H4. |
| histone-arginine N-methyltransferase activity | Catalysis of the reaction: S-adenosyl-L-methionine + (histone)-arginine = S-adenosyl-L-homocysteine + (histone)-N-methyl-arginine. |
| protein-arginine omega-N monomethyltransferase activity | Catalysis of the addition of a methyl group to either of the unmethylated terminal nitrogen atoms (also called omega nitrogen) in peptidyl-arginine to form an omega-N-G-monomethylated arginine residue. The reaction is S-adenosyl-L-methionine |
| protein-arginine omega-N symmetric methyltransferase activity | +Catalysis of the addition of a second methyl group to methylated peptidyl-arginine. Methylation is on the terminal nitrogen (omega nitrogen) residue that is not already methylated, resulting in symmetrical peptidyl-N(omega),N'(omega)-dimethyled arginine residues. |
| ribonucleoprotein complex binding | Binding to a complex of RNA and protein. |
| S-adenosylmethionine-dependent methyltransferase activity | Catalysis of the transfer of a methyl group from S-adenosyl-L-methionine to a substrate. |
8 GO annotations of biological process
| Name | Definition |
|---|---|
| cell differentiation | The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. |
| DNA methylation involved in gamete generation | The covalent transfer of a methyl group to C-5 of cytosine that contributes to the establishment of DNA methylation patterns in the gamete. |
| histone arginine methylation | The modification of a histone by addition of a methyl group to an arginine residue. |
| histone methylation | The modification of histones by addition of methyl groups. |
| peptidyl-arginine methylation | The addition of a methyl group to an arginine residue in a protein. |
| regulation of gene expression by genomic imprinting | An epigenetic mechanism of regulation of gene expression in which epigenetic modifications (imprints) are established during gametogenesis. For a given gene to show parentally biased expression, the imprint are established exclusively in one of the two parental genomes, thus generating an asymmetry between the maternal and paternal alleles. |
| regulation of protein binding | Any process that modulates the frequency, rate or extent of protein binding. |
| spliceosomal snRNP assembly | The aggregation, arrangement and bonding together of one or more snRNA and multiple protein components to form a ribonucleoprotein complex that is involved in formation of the spliceosome. |
8 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| A6QQV6 | PRMT7 | Protein arginine N-methyltransferase 7 | Bos taurus (Bovine) | PR |
| Q5ZIB9 | PRMT7 | Protein arginine N-methyltransferase 7 | Gallus gallus (Chicken) | PR |
| Q9W1V1 | Art7 | Protein arginine N-methyltransferase 7 | Drosophila melanogaster (Fruit fly) | PR |
| Q6P2P2 | PRMT9 | Protein arginine N-methyltransferase 9 | Homo sapiens (Human) | PR |
| Q3U3W5 | Prmt9 | Protein arginine N-methyltransferase 9 | Mus musculus (Mouse) | PR |
| Q922X9 | Prmt7 | Protein arginine N-methyltransferase 7 | Mus musculus (Mouse) | PR |
| Q5U4E8 | Prmt7 | Protein arginine N-methyltransferase 7 | Rattus norvegicus (Rat) | PR |
| A2AV36 | prmt7 | Protein arginine N-methyltransferase 7 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MKIFCSRANP | TTGSVEWLEE | DEHYDYHQEI | ARSSYADMLH | DKDRNVKYYQ | GIRAAVSRVK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DRGQKALVLD | IGTGTGLLSM | MAVTAGADFC | YAIEVFKPMA | DAAVKIVEKN | GFSDKIKVIN |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KHSTEVTVGP | EGDMPCRANI | LVTELFDTEL | IGEGALPSYE | HAHRHLVEEN | CEAVPHRATV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| YAQLVESGRM | WSWNKLFPIH | VQTSLGEQVI | VPPVDVESCP | GAPSVCDIQL | NQVSPADFTV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LSDVLPMFSI | DFSKQVSSSA | ACHSRRFEPL | TSGRAQVVLS | WWDIEMDPEG | KIKCTMAPFW |
| 310 | 320 | 330 | 340 | 350 | 360 |
| AHSDPEEMQW | RDHWMQCVYF | LPQEEPVVQG | SALYLVAHHD | DYCVWYSLQR | TSPEKNERVR |
| 370 | 380 | 390 | 400 | 410 | 420 |
| QMRPVCDCQA | HLLWNRPRFG | EINDQDRTDR | YVQALRTVLK | PDSVCLCVSD | GSLLSVLAHH |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LGVEQVFTVE | SSAASHKLLR | KIFKANHLED | KINIIEKRPE | LLTNEDLQGR | KVSLLLGEPF |
| 490 | 500 | 510 | 520 | 530 | 540 |
| FTTSLLPWHN | LYFWYVRTAV | DQHLGPGAMV | MPQAASLHAV | VVEFRDLWRI | RSPCGDCEGF |
| 550 | 560 | 570 | 580 | 590 | 600 |
| DVHIMDDMIK | RALDFRESRE | AEPHPLWEYP | CRSLSEPWQI | LTFDFQQPVP | LQPLCAEGTV |
| 610 | 620 | 630 | 640 | 650 | 660 |
| ELRRPGQSHA | AVLWMEYHLT | PECTLSTGLL | EPADPEGGCC | WNPHCKQAVY | FFSPAPDPRA |
| 670 | 680 | 690 | |||
| LLGGPRTVSY | AVEFHPDTGD | IIMEFRHADT | PD |