Q86WJ1

EV
Gene name
CHD1L (ALC1)
Protein name
Chromodomain-helicase-DNA-binding protein 1-like
Names
EC 3.6.4.- , Amplified in liver cancer protein 1
Species
Homo sapiens (Human)
KEGG Pathway
hsa:9557
EC number
3.6.4.-: Acting on ATP; involved in cellular and subcellular movement
Protein Class
CHROMODOMAIN-HELICASE-DNA-BINDING PROTEIN 1-LIKE (PTHR47157)

Descriptions

Oncogenic chromatin remodeler ALC1 (ALC1, also known as CHD1L) is an ATP-dependent chromatin remodeler that relaxes the chromatin and plays an important role in the poly(ADP-ribose) polymerase 1-mediated DNA repair pathway. The macro domain of ALC1 binds to lobe 2 of the ATPase motor, sequestering two elements for nucleosome recognition. Autoinhibition by macro domain interactions stabilizes the ATPase lobe, impacting DNA damage repair. The cancer-related mutations of several basic residues on the macro domain disrupt the autoinhibition of ALC1, compromising its function in cells. Upon DNA damage, the interaction between the macro domain and PAR chains in PARP1 can also release the autoinhibition of ALC1 and target the remodeler to the sites of DNA damage. Furthermore, the histone H4 tails of nucleosome and other nucleosomal epitopes often provide the combinational cues to target and regulate chromatin remodelers, leading to the activation of ALC1 in cells.

Autoinhibitory domains (AIDs)

704-897 (Macro domain) EV

Target domain

348-513 (Lobe 2 of ATPase motor domain)

Relief mechanism

Ligand binding, Partner binding, Others

Assay

Structural analysis, Mutagenesis experiment, Peptide inhibitor test, Deletion assay

Accessory elements

No accessory elements

References

Autoinhibited structure

Activated structure

7 structures for Q86WJ1

Entry ID Method Resolution Chain Position Source
6ZHX EM 250 A K/L 604-639 PDB
6ZHY EM 300 A K 604-639 PDB
7ENN EM 280 A K 1-897 PDB
7EPU X-ray 350 A B 1-880 PDB
7OTQ EM 480 A K 16-879 PDB
8B0A EM 300 A K 16-879 PDB
AF-Q86WJ1-F1 Predicted AlphaFoldDB

1100 variants for Q86WJ1

Variant ID(s) Position Change Description Diseaes Association Provenance
RCV000416565
CA1063384
rs201333837
RCV000994092
 236 R>H Congenital anomaly of kidney and urinary tract [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
RCV001374538
rs782747449
 419 L>P Hereditary breast ovarian cancer syndrome [ClinVar] Yes ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs376783101
RCV003418384
RCV002246682
RCV002137548
 517 I>M CHD1L-related condition [ClinVar] Yes ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs1064797118
RCV000488392
RCV003278839
CA16621573
 629 T>N Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
CA1063983
rs149913688
RCV000484211
RCV002526964
 727 P>T Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs369564534
RCV000416573
CA1063991
 736 I>V Congenital anomaly of kidney and urinary tract [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV000416594
CA1064038
rs782687350
 760 A>T Congenital anomaly of kidney and urinary tract [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV000913227
rs147494800
 1 M>L No ClinVar
dbSNP
rs782190965 2 E>K No ExAC
TOPMed
gnomAD
rs377310969 3 R>C No ESP
TOPMed
gnomAD
rs1255079978 3 R>H No TOPMed
rs782305182 4 A>P No 1000Genomes
ExAC
gnomAD
rs1665082125 4 A>V No TOPMed
rs1222127022 5 G>A No TOPMed
gnomAD
rs782387057 5 G>R No ExAC
gnomAD
rs1665087556 6 A>G No Ensembl
rs782153707 6 A>T No ExAC
gnomAD
rs1447633273 7 T>A No TOPMed
gnomAD
rs1571513645 7 T>I No Ensembl
rs1447633273 7 T>S No TOPMed
gnomAD
rs373271315 8 S>I No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs373271315 8 S>N No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs782101307 8 S>R No ExAC
rs782736815 9 R>C No ExAC
TOPMed
gnomAD
rs782736815 9 R>G No ExAC
TOPMed
gnomAD
rs782506295 9 R>H No ExAC
TOPMed
rs782506295 9 R>P No ExAC
TOPMed
rs781885928 10 G>R No ExAC
TOPMed
gnomAD
rs782465698 10 G>V No ExAC
gnomAD
rs781885928 10 G>W No ExAC
TOPMed
gnomAD
TCGA novel 11 G>A Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs782225008 11 G>C No ExAC
TOPMed
gnomAD
rs782341713 11 G>D No ExAC
gnomAD
rs782225008 11 G>S No ExAC
TOPMed
gnomAD
rs782341713 11 G>V No ExAC
gnomAD
rs782646191 12 Q>* No ExAC
TOPMed
gnomAD
rs782646191 12 Q>E No ExAC
TOPMed
gnomAD
rs587765929 12 Q>H No 1000Genomes
ExAC
TOPMed
gnomAD
rs782646191 12 Q>K No ExAC
TOPMed
gnomAD
rs782416368 12 Q>R No 1000Genomes
ExAC
TOPMed
gnomAD
RCV001639477
rs1890042
 13 A>= No ClinVar
dbSNP
rs782133558 13 A>D No ExAC
gnomAD
rs782370058 13 A>S No ExAC
TOPMed
gnomAD
rs782370058 13 A>T No ExAC
TOPMed
gnomAD
rs1280350026 14 P>R No TOPMed
gnomAD
rs1665113158 15 G>S No TOPMed
rs782152009 16 F>Y No ExAC
TOPMed
gnomAD
rs1553931845 17 L>I No gnomAD
rs1553931853 19 R>Q No gnomAD
rs1665119164 20 L>F No Ensembl
rs1665120827 21 H>P No TOPMed
rs1439164074 21 H>Q No TOPMed
rs1665120827 21 H>R No TOPMed
rs1351011184 22 T>A No TOPMed
gnomAD
rs1665123252 22 T>I No TOPMed
rs1665124972 23 E>D No TOPMed
rs1553931874 24 G>D No gnomAD
rs1391823347 25 R>* No TOPMed
rs11588753 25 R>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs11588753
RCV001666999
VAR_042954
 25 R>P No ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs11588753 25 R>Q No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1665130885 27 E>K No gnomAD
rs1665131566 27 E>V No gnomAD
rs200287122 28 A>E No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1213085797 29 A>E No TOPMed
gnomAD
rs1213085797 29 A>V No TOPMed
gnomAD
rs782676436 30 R>G No ExAC
TOPMed
gnomAD
rs972230040 30 R>Q No TOPMed
gnomAD
rs782676436 30 R>W No ExAC
TOPMed
gnomAD
rs1293833748 32 Q>* No gnomAD
rs1221302265 32 Q>L No Ensembl
rs1665141310 33 E>K No TOPMed
gnomAD
rs1368853275 34 Q>K No TOPMed
gnomAD
rs587687001 35 D>V No 1000Genomes
ExAC
TOPMed
gnomAD
rs782618260 37 R>G No ExAC
TOPMed
gnomAD
rs1665145713 37 R>P No TOPMed
rs781889081 38 Q>K No Ensembl
rs1332924827 39 W>C No TOPMed
gnomAD
rs930822717 40 G>A No TOPMed
gnomAD
TCGA novel 42 T>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs782246341 44 I>F No ExAC
TOPMed
gnomAD
rs782246341 44 I>V No ExAC
TOPMed
gnomAD
rs945236631 45 H>Y No gnomAD
rs1455863597 47 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs1553937191 47 R>H No TOPMed
gnomAD
rs1668775921 48 S>A No Ensembl
rs782200038 49 Y>* No ExAC
TOPMed
gnomAD
rs1553937204 49 Y>H No TOPMed
gnomAD
rs1042273506 50 Q>* No gnomAD
rs1471983424 50 Q>H No TOPMed
gnomAD
rs782311405 52 E>D No ExAC
gnomAD
TCGA novel 52 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs781965410 53 G>E No ExAC
gnomAD
rs587755825 54 V>A No 1000Genomes
ExAC
TOPMed
gnomAD
rs587755825 54 V>E No 1000Genomes
ExAC
TOPMed
gnomAD
rs200995927 55 N>D No Ensembl
rs587645225 56 W>* No 1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 56 W>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs782383196 56 W>R No ExAC
gnomAD
rs1553937244 57 L>F No gnomAD
rs782803495 58 A>P No ExAC
TOPMed
gnomAD
rs782803495 58 A>T No ExAC
TOPMed
gnomAD
rs1553937281 59 Q>H No gnomAD
rs1553937264 59 Q>P No gnomAD
rs1553937264 59 Q>R No gnomAD
COSM423714
rs782045573
COSM5207606
 60 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs782737857 60 R>H No ExAC
TOPMed
gnomAD
COSM895280
rs587758592
 62 H>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 64 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM3473183 65 N>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1668797085 65 N>S No Ensembl
rs1668797839 66 G>S No gnomAD
rs782470880 67 C>Y No TOPMed
gnomAD
TCGA novel 69 L>G Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 69 L>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM895281 70 G>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1553937308 72 E>G No TOPMed
gnomAD
rs782806343 72 E>K No ExAC
gnomAD
rs1234172839 74 G>D No TOPMed
gnomAD
rs1234172839 74 G>V No TOPMed
gnomAD
rs1553937318 76 G>W No gnomAD
rs1668802904 77 K>* No gnomAD
rs1553937327 78 T>A No gnomAD
rs1553937335 78 T>I No Ensembl
rs1553937327 78 T>P No gnomAD
rs1553937335 78 T>S No Ensembl
rs2102364378 79 C>G No Ensembl
rs2102364410 80 Q>E No Ensembl
rs781889467 80 Q>H No ExAC
TOPMed
gnomAD
rs1553938883 81 T>A No gnomAD
COSM5176803
COSM1333651
 81 T>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1382345863 82 I>T No TOPMed
gnomAD
rs1571695588 82 I>V No TOPMed
gnomAD
rs1669578407 83 A>P No Ensembl
rs36068896 84 L>F No TOPMed
gnomAD
rs36068896 84 L>V No TOPMed
gnomAD
rs1559749560 85 F>L No Ensembl
rs1425106117 86 I>M No TOPMed
rs782051281 86 I>V No ExAC
gnomAD
rs1669585037 87 Y>S No Ensembl
rs369003776 88 L>M No ESP
ExAC
TOPMed
gnomAD
rs781953321 88 L>W No ExAC
TOPMed
gnomAD
TCGA novel 89 A>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1011097726 90 G>E No Ensembl
rs1669588360 91 R>S No Ensembl
rs371676695 92 L>* No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM3473184 92 L>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs782145750 96 G>V No ExAC
gnomAD
rs781905122 96 G>W No ExAC
TOPMed
gnomAD
rs782712681 97 P>Q No ExAC
TOPMed
gnomAD
rs782712681 97 P>R No ExAC
TOPMed
gnomAD
rs782648240 98 F>L No ExAC
gnomAD
rs781862870 101 L>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs370027194 103 P>S No ESP
ExAC
TOPMed
gnomAD
rs1669599810 110 W>R No gnomAD
rs1343665947 111 K>R No TOPMed
gnomAD
rs1669922224 117 F>C No TOPMed
gnomAD
rs1553939837 118 A>P No gnomAD
rs1669924526 118 A>V No TOPMed
rs782474557 119 P>A No ExAC
TOPMed
gnomAD
rs1669926283 119 P>Q No TOPMed
rs1669926283 119 P>R No TOPMed
rs782474557 119 P>S No ExAC
TOPMed
gnomAD
rs1669928060 120 G>D No TOPMed
rs1553939855 120 G>S No gnomAD
rs1226320177 121 L>V No TOPMed
rs1553939864 123 C>Y No gnomAD
rs782243350 124 V>E No ExAC
gnomAD
rs1669931031 124 V>I No gnomAD
rs1669933364
COSM3862599
 125 T>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TOPMed
rs1669934168 125 T>I No TOPMed
gnomAD
rs201227166 126 Y>H No TOPMed
gnomAD
rs782540038 127 A>V No ExAC
rs1669939393 129 D>G No TOPMed
rs1344772841 129 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs201990873 130 K>R No gnomAD
rs146325614 132 E>G No ESP
ExAC
TOPMed
gnomAD
rs782306437 133 R>G No ExAC
TOPMed
gnomAD
rs781957384 133 R>K No ExAC
TOPMed
gnomAD
TCGA novel 133 R>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs192336187 134 A>T No 1000Genomes
ExAC
TOPMed
gnomAD
rs1669947100 135 C>Y No Ensembl
rs1553939941 136 L>F No gnomAD
rs1559753887 136 L>P No TOPMed
rs1553939952 138 Q>P No gnomAD
rs910575786 139 D>G No Ensembl
rs1553939959 139 D>N No gnomAD
rs201680696 145 R>C No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs782037968 145 R>H No ExAC
TOPMed
gnomAD
rs1177553313 147 H>R No TOPMed
rs372855761 148 V>L No ESP
ExAC
TOPMed
gnomAD
rs372855761 148 V>M No ESP
ExAC
TOPMed
gnomAD
rs1669961788 149 L>Q No TOPMed
rs1184674375 151 T>I No Ensembl
rs1553940014 152 T>A No gnomAD
rs1669968602
RCV001591755
 153 Y>* No ClinVar
TOPMed
dbSNP
rs782730027 153 Y>C No ExAC
TOPMed
gnomAD
rs782730027 153 Y>F No ExAC
TOPMed
gnomAD
rs782146681 155 I>F No ExAC
TOPMed
gnomAD
rs782146681 155 I>V No ExAC
TOPMed
gnomAD
rs1285620240 156 C>F No TOPMed
gnomAD
rs1670214624 156 C>W No TOPMed
rs587719271 157 L>F No 1000Genomes
ExAC
TOPMed
gnomAD
rs1670218552 159 D>G No Ensembl
rs1670217835 159 D>N No Ensembl
rs1375587977 160 A>S No TOPMed
gnomAD
rs1375587977 160 A>T No TOPMed
gnomAD
rs1454200114 160 A>V No TOPMed
gnomAD
COSM3473185 161 S>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs909378755 162 F>C No Ensembl
rs1670223534 163 L>P No TOPMed
COSM5480871
COSM5480870
rs1379475915
 165 S>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
rs781849750 166 F>C No ExAC
gnomAD
rs1553942722 167 P>L No TOPMed
gnomAD
rs782465288 168 W>* No ExAC
gnomAD
rs1553942729 168 W>* No gnomAD
rs782465288 168 W>C No ExAC
gnomAD
rs1553942742 169 S>I No gnomAD
rs371872866 170 V>I No ESP
ExAC
TOPMed
gnomAD
COSM4402558
COSM4402559
rs1671331917
 171 L>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
gnomAD
TCGA novel 171 L>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1231736748 172 V>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
rs1470056996 172 V>L No TOPMed
rs782562082 173 V>G No ExAC
TOPMed
gnomAD
rs1553942782 173 V>L No gnomAD
rs1553942793 174 D>E No gnomAD
TCGA novel 175 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs782199607 178 R>K No ExAC
TOPMed
gnomAD
COSM1127405 179 L>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs782439013 179 L>V No ExAC
TOPMed
gnomAD
rs1671342555 179 L>W No TOPMed
rs782610778 181 N>K No ExAC
TOPMed
gnomAD
rs1553942814 183 S>T No Ensembl
rs1671344902 184 S>F No gnomAD
rs1286047552 185 L>R No TOPMed
gnomAD
rs1224176633 186 L>M No TOPMed
gnomAD
rs1372508809 187 H>D No TOPMed
gnomAD
rs202041182 187 H>R No 1000Genomes
ExAC
gnomAD
rs782381218 188 K>E No ExAC
gnomAD
rs1553942835 188 K>R No gnomAD
rs1671353639 190 L>S No Ensembl
rs1671354451 191 S>* No TOPMed
gnomAD
COSM260088
COSM5098755
 193 F>= Variant assessed as Somatic; LOW impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs781957034 194 S>* No ExAC
rs782366790 194 S>A No ExAC
gnomAD
rs1673111080 195 V>E No TOPMed
rs782265673 196 V>I No ExAC
TOPMed
gnomAD
rs782265673 196 V>L No ExAC
TOPMed
gnomAD
rs1553946467 198 S>G No gnomAD
rs1673117633 199 L>H No TOPMed
rs1673116129 199 L>V No TOPMed
rs1553946490 201 L>* No gnomAD
rs782724329 201 L>F No ExAC
gnomAD
rs587674066 202 T>I No 1000Genomes
ExAC
TOPMed
gnomAD
rs1458109974 203 G>E No TOPMed
rs148845749 203 G>R No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1237494067 204 T>S No TOPMed
gnomAD
rs1196894937 206 I>L No TOPMed
gnomAD
rs1673128078 207 Q>* No TOPMed
gnomAD
rs1553946535 207 Q>H No gnomAD
rs1673128870 207 Q>R No gnomAD
rs143518204 208 N>K No ESP
ExAC
TOPMed
gnomAD
rs1553946543 210 L>F No gnomAD
rs1673138959 212 E>K No Ensembl
rs782808030 213 L>P No ExAC
gnomAD
rs1553946566 214 Y>* No gnomAD
rs1281579709 214 Y>C No TOPMed
gnomAD
rs1553946571 215 S>F No Ensembl
rs1571838548 219 F>V No Ensembl
rs1673148166 221 E>G No TOPMed
rs1673149031 222 P>A No Ensembl
rs587632403 222 P>L No 1000Genomes
ExAC
TOPMed
gnomAD
rs955249999 224 L>P No TOPMed
gnomAD
rs1553946614 226 S>F No gnomAD
rs781826569 226 S>P No ExAC
TOPMed
gnomAD
rs782520618 227 K>R No ExAC
gnomAD
TCGA novel 229 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs782636756 229 E>G No ExAC
TOPMed
gnomAD
rs973398344 230 V>G No Ensembl
rs1673159802 230 V>M No TOPMed
gnomAD
rs1553946638 231 G>E No TOPMed
gnomAD
rs1379671655 233 F>V No TOPMed
gnomAD
rs1673165244 235 Q>* No TOPMed
rs782408250 235 Q>H No ExAC
gnomAD
rs587768473 236 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs782354202 239 D>Y No ExAC
TOPMed
gnomAD
COSM5514784
COSM5514783
 243 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs781953345 243 E>K No ExAC
TOPMed
gnomAD
rs782753018 244 S>C No Ensembl
rs2102547604 244 S>P No Ensembl
rs139274984 245 E>D No ESP
TOPMed
gnomAD
rs1673177775 245 E>Q No Ensembl
rs199929968 247 A>V No 1000Genomes
ExAC
TOPMed
gnomAD
rs1553947848 248 S>N No gnomAD
rs1673738391 248 S>R No TOPMed
rs1553947848 248 S>T No gnomAD
rs781925575 249 E>K No ExAC
gnomAD
rs1417974414 250 L>V No TOPMed
rs1553947868 251 H>R No gnomAD
rs1571856991 252 K>N No Ensembl
rs782107935 254 L>F No ExAC
TOPMed
gnomAD
rs587612852 254 L>S No 1000Genomes
rs587612852 254 L>W No 1000Genomes
rs782344210 255 Q>* No ExAC
TOPMed
gnomAD
rs1673750947 256 P>L No Ensembl
rs1553947918 257 F>S No TOPMed
gnomAD
rs1256469276 258 L>Q No TOPMed
gnomAD
rs782819498 259 L>P No ExAC
TOPMed
gnomAD
rs782819498 259 L>R No ExAC
TOPMed
gnomAD
rs1673755990 260 R>M No gnomAD
TCGA novel 260 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs144288940 261 R>* No ESP
ExAC
TOPMed
gnomAD
rs144288940 261 R>G No ESP
ExAC
TOPMed
gnomAD
rs202226947 261 R>P No 1000Genomes
ExAC
TOPMed
gnomAD
rs202226947 261 R>Q No 1000Genomes
ExAC
TOPMed
gnomAD
rs1553947957 262 V>M No TOPMed
gnomAD
rs1553947977 263 K>N No gnomAD
rs1315139999 264 A>P No TOPMed
gnomAD
rs1229050451 265 E>D No TOPMed
gnomAD
rs1553947987 269 E>D No TOPMed
gnomAD
rs1355232999 272 K>E No TOPMed
rs1553948000 272 K>N No TOPMed
gnomAD
rs1673772258 272 K>R No TOPMed
rs782770115 273 K>N No ExAC
TOPMed
gnomAD
rs781848220 274 T>A No ExAC
TOPMed
gnomAD
rs112618269 274 T>I No TOPMed
rs781848220 274 T>S No ExAC
TOPMed
gnomAD
rs1028414868 276 V>I No TOPMed
gnomAD
rs782537728 277 V>M No ExAC
gnomAD
RCV000385994
CA10602731
rs886041164
 278 I>M No ClinGen
ClinVar
TOPMed
dbSNP
rs782494149 279 Y>C No ExAC
gnomAD
rs782669205 279 Y>D No ExAC
gnomAD
rs782669205 279 Y>H No ExAC
gnomAD
rs1673785139 281 G>D No Ensembl
TCGA novel 282 M>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs587737412 283 S>A No 1000Genomes
ExAC
TOPMed
gnomAD
rs587737412 283 S>P No 1000Genomes
ExAC
TOPMed
gnomAD
rs587737412 283 S>T No 1000Genomes
ExAC
TOPMed
gnomAD
rs1571858647 284 A>T No Ensembl
rs2102572127 285 L>F No Ensembl
rs1416708695 285 L>S No TOPMed
gnomAD
rs2102572170 286 Q>K No Ensembl
rs1673795170 288 K>* No TOPMed
rs1185594393 288 K>I No TOPMed
rs1185594393 288 K>R No TOPMed
rs200436767 289 Y>H No 1000Genomes
gnomAD
rs1553948134 290 Y>* No gnomAD
rs1553948121 290 Y>H No gnomAD
rs1262381281 292 A>T No TOPMed
gnomAD
rs1553948161 294 L>M No gnomAD
rs1673806412 295 M>I No Ensembl
rs781926083 295 M>V No ExAC
TOPMed
gnomAD
rs1673807346 296 K>E No Ensembl
rs782098154 297 D>G No ExAC
TOPMed
gnomAD
rs782728909 299 D>G No TOPMed
rs782027400 300 A>T No ExAC
TOPMed
gnomAD
rs1210725411 300 A>V No Ensembl
COSM98080 301 F>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs369279428 301 F>Y No ESP
ExAC
TOPMed
gnomAD
rs782317795 302 E>G No ExAC
gnomAD
rs587697021 303 N>S No 1000Genomes
ExAC
TOPMed
gnomAD
rs1674387739 304 E>D No Ensembl
rs1553949286 304 E>K No gnomAD
rs782085796 305 T>K No ExAC
TOPMed
gnomAD
rs782085796 305 T>M No ExAC
TOPMed
gnomAD
rs1553949300 307 K>Q No TOPMed
gnomAD
rs1674395055 308 K>E No Ensembl
rs1571876795 309 V>A No Ensembl
COSM674768
rs1674398726
 312 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
TOPMed
gnomAD
rs782452148 312 Q>H No ExAC
TOPMed
gnomAD
rs781808589 312 Q>P No ExAC
TOPMed
gnomAD
rs781808589 312 Q>R No ExAC
TOPMed
gnomAD
COSM1333652
COSM5165455
 313 N>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs782614177 314 I>V No ExAC
TOPMed
gnomAD
rs1674404784 317 Q>* No Ensembl
COSM4671952
rs587754399
COSM4671951
 319 R>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs202245685 319 R>P No ExAC
TOPMed
gnomAD
rs202245685 319 R>Q No ExAC
TOPMed
gnomAD
TCGA novel 320 K>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1674408003 322 V>L No TOPMed
rs782634856 323 D>G No ExAC
TOPMed
gnomAD
rs782634856 323 D>V No ExAC
TOPMed
gnomAD
rs2102597202 323 D>Y No Ensembl
rs1553949378 324 H>Y No gnomAD
rs373036183 328 F>C No ESP
ExAC
TOPMed
gnomAD
rs373036183 328 F>S No ESP
ExAC
TOPMed
gnomAD
rs1418948373 329 D>H No TOPMed
gnomAD
rs1418948373 329 D>N No TOPMed
gnomAD
rs1553949419 330 G>C No gnomAD
rs782329452 330 G>D No ExAC
TOPMed
gnomAD
rs782349484 331 V>G No ExAC
gnomAD
rs782235742 331 V>M No ExAC
gnomAD
rs1249494722 333 P>A No TOPMed
gnomAD
rs782811744 333 P>L No ExAC
TOPMed
gnomAD
rs782811744 333 P>R No ExAC
TOPMed
gnomAD
rs1249494722 333 P>T No TOPMed
gnomAD
TCGA novel 335 P>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1674977041 336 F>V No TOPMed
rs782009110 338 V>I No ExAC
gnomAD
rs1553950500 339 G>E No gnomAD
rs369233757 340 D>E No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs140168816 340 D>N No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM3473186 340 D>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs781839697 341 H>P No ExAC
TOPMed
gnomAD
rs781839697 341 H>R No ExAC
TOPMed
gnomAD
rs1553950514 341 H>Y No gnomAD
COSM895283 343 T>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2102620427 343 T>I No Ensembl
rs1553950539 343 T>P No gnomAD
rs373166478 344 E>D No ESP
ExAC
TOPMed
gnomAD
rs782557151 346 S>N No TOPMed
gnomAD
rs782557151 346 S>T No TOPMed
gnomAD
rs781903935 348 K>R No ExAC
gnomAD
rs782546588 349 L>F No ExAC
gnomAD
RCV001723225
VAR_042955
rs17356233
 350 H>Q No UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
ClinVar
rs1674998098 351 L>V No Ensembl
rs1229550550 353 D>G No TOPMed
gnomAD
rs938650845 354 K>Q No Ensembl
rs149891977 357 A>G No ESP
ExAC
TOPMed
gnomAD
rs1301744095 357 A>S No TOPMed
gnomAD
rs149891977 357 A>V No ESP
ExAC
TOPMed
gnomAD
rs782259785 358 F>C No ExAC
gnomAD
rs377698659 361 S>P No ESP
ExAC
TOPMed
gnomAD
TCGA novel 361 S>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1362018070 362 G>V No TOPMed
rs1553952466 364 H>R No TOPMed
gnomAD
TCGA novel 364 H>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1024396953 365 R>Q No TOPMed
gnomAD
rs368115096 365 R>W No ESP
TOPMed
gnomAD
rs1675947168
RCV001092897
 366 V>A No ClinVar
Ensembl
dbSNP
rs1238308009 366 V>F No TOPMed
gnomAD
rs1361822490 368 L>V No TOPMed
rs1316209486 369 F>C No TOPMed
gnomAD
rs1316209486 369 F>S No TOPMed
gnomAD
rs1244459638 371 Q>* No TOPMed
rs782161166 373 T>I No ExAC
gnomAD
rs782161166 373 T>N No ExAC
gnomAD
rs1675955768 374 Q>H No TOPMed
rs1339242686 377 D>V No Ensembl
rs1320779160 378 I>M No TOPMed
gnomAD
rs1675966121 380 Q>H No Ensembl
rs1385125557 380 Q>R No TOPMed
rs1553952556 381 D>G No gnomAD
rs144757186 381 D>N No ESP
ExAC
TOPMed
gnomAD
rs1417513790 382 Y>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs201579599 383 M>I No 1000Genomes
ExAC
TOPMed
gnomAD
rs1559811355 383 M>L No Ensembl
rs1386652451 383 M>T No TOPMed
gnomAD
rs1553952585 385 Y>F No gnomAD
rs782525631 386 R>G No ExAC
TOPMed
gnomAD
rs782687691 386 R>K No ExAC
TOPMed
gnomAD
rs1676496211 387 G>A No TOPMed
rs1195313919 387 G>S No TOPMed
rs199831401 390 Y>C No 1000Genomes
ExAC
gnomAD
rs782609645 391 E>G No ExAC
TOPMed
gnomAD
rs367735711 391 E>K No ESP
ExAC
TOPMed
gnomAD
rs138710865 392 R>C No ESP
ExAC
TOPMed
gnomAD
rs782668695 392 R>H No ExAC
TOPMed
gnomAD
rs782668695 392 R>L No ExAC
TOPMed
gnomAD
rs782668695 392 R>P No ExAC
TOPMed
gnomAD
rs782323523 395 G>R No ExAC
TOPMed
gnomAD
rs1457716456 397 V>L No TOPMed
rs781913199 399 G>R No ExAC
rs782231747 400 E>G No ExAC
TOPMed
rs1443709118 402 R>K No TOPMed
TCGA novel 402 R>S Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1278675848 403 H>D No TOPMed
rs1676520424 405 A>S No Ensembl
TCGA novel 405 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1553953881 406 I>V No gnomAD
rs1676522308 407 K>N No TOPMed
rs1218327685 409 F>C No TOPMed
rs1676524928 409 F>L No Ensembl
rs1676525877 410 G>R No Ensembl
rs1345233141 411 Q>L No TOPMed
gnomAD
rs1345233141 411 Q>R No TOPMed
gnomAD
rs1676528446 412 Q>* No TOPMed
rs1553953908 412 Q>R No gnomAD
rs371201709 413 P>T No ESP
ExAC
gnomAD
rs1553953917 414 I>V No Ensembl
rs781937231 416 V>A No ExAC
gnomAD
rs587627638 416 V>I No 1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 416 V>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1553953954 417 F>L No gnomAD
rs1553953954 417 F>V No gnomAD
rs147000841 418 L>H No 1000Genomes
gnomAD
rs782747449 419 L>R No ExAC
TOPMed
gnomAD
rs1676541454 420 S>N No TOPMed
rs1553953983 421 T>S No gnomAD
TCGA novel 422 R>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1676544366
TCGA novel
 423 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs1450119199 423 A>V No TOPMed
rs1553956649 424 G>A No TOPMed
gnomAD
rs1553956649 424 G>D No TOPMed
gnomAD
rs781821502 425 G>R No ExAC
gnomAD
rs1553956680 426 V>A No TOPMed
gnomAD
rs1677967649 427 G>A No TOPMed
gnomAD
rs781902342 427 G>C No ExAC
rs1553956694 428 M>I No TOPMed
gnomAD
rs782459357 428 M>T No ExAC
gnomAD
rs1245332567 429 N>D No TOPMed
rs1312901526 431 T>A No TOPMed
rs201462674 432 A>V No 1000Genomes
ExAC
gnomAD
rs1559830639 434 D>G No Ensembl
rs1437131416 435 T>S No Ensembl
rs1366064751 436 V>M No TOPMed
gnomAD
rs1677978652 438 F>S No TOPMed
rs782224706 439 V>A No ExAC
gnomAD
rs782343138 440 D>G No ExAC
gnomAD
rs781814757 441 S>G No ExAC
gnomAD
rs1319895958 441 S>N No Ensembl
rs1677985828 444 N>S No Ensembl
rs782423515 445 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs1677988546 446 Q>* No TOPMed
rs1553956777 446 Q>R No gnomAD
rs145656868
COSM895284
 447 N>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1553956792 447 N>S No gnomAD
rs782062962 448 D>G No ExAC
gnomAD
rs1677994850 450 Q>E No Ensembl
rs781963003 450 Q>H No ExAC
rs782073787 451 A>G No ExAC
TOPMed
gnomAD
rs782073787 451 A>V No ExAC
TOPMed
gnomAD
rs1678000071 453 A>T No TOPMed
TCGA novel 453 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1678002299 454 R>K No gnomAD
TCGA novel 454 R>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1367036387 455 A>V No TOPMed
COSM3788610 456 H>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1553956866 456 H>R No TOPMed
gnomAD
rs782791630 456 H>Y No ExAC
gnomAD
rs1171065853 457 R>C No TOPMed
gnomAD
rs781853748 457 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs746526866 458 I>T No Ensembl
rs782164119 458 I>V No ExAC
gnomAD
rs782791468 460 Q>R No ExAC
gnomAD
rs1553956924 461 N>H No gnomAD
rs1559831387 461 N>K No TOPMed
gnomAD
rs1678337307 462 K>N No TOPMed
rs375312647 463 S>F No Ensembl
rs545692282 464 V>A No Ensembl
rs1461398222
COSM5214243
 466 V>S Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
rs1201399191 467 I>T No TOPMed
gnomAD
rs201774051 468 R>G No ExAC
TOPMed
gnomAD
rs587620686 468 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs201774051 468 R>W No ExAC
TOPMed
gnomAD
rs1678348087 470 I>T No TOPMed
gnomAD
rs1678349050 471 G>D No TOPMed
gnomAD
rs1678349050 471 G>V No TOPMed
gnomAD
rs140890542 472 R>* No ESP
ExAC
TOPMed
gnomAD
rs140890542 472 R>G No ESP
ExAC
TOPMed
gnomAD
rs200226258 472 R>Q No ExAC
TOPMed
gnomAD
rs1553957637 474 T>A No gnomAD
rs1553957643 474 T>I No gnomAD
rs1678359420 476 E>K No TOPMed
rs372861864 477 E>Q No ESP
TOPMed
gnomAD
COSM4021818 478 I>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs143311857 478 I>T No ESP
ExAC
TOPMed
gnomAD
rs782595117 480 Y>D No ExAC
TOPMed
gnomAD
rs782595117 480 Y>H No ExAC
TOPMed
gnomAD
rs1389753499 481 R>K No TOPMed
gnomAD
rs782494783 482 K>I No ExAC
gnomAD
rs1288479963 483 A>P No TOPMed
gnomAD
rs1288479963 483 A>T No TOPMed
gnomAD
rs140343369 483 A>V No ESP
ExAC
TOPMed
gnomAD
rs1678371925 484 A>P No TOPMed
rs1370514785 485 S>F No TOPMed
gnomAD
rs1444498992 487 L>R No TOPMed
rs1678378222 488 Q>* No Ensembl
rs782271333 488 Q>R No ExAC
gnomAD
rs1678381162 490 T>A No Ensembl
rs375996768 490 T>I No ESP
ExAC
TOPMed
gnomAD
rs1553957763 492 M>T No gnomAD
rs782394217 494 I>T No ExAC
TOPMed
gnomAD
rs1678384888 494 I>V No Ensembl
rs962246846 495 E>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs1553957778 496 G>* No gnomAD
rs1553957778 496 G>R No gnomAD
rs149130696 497 G>D No ESP
ExAC
TOPMed
gnomAD
rs782167543 497 G>S No ExAC
gnomAD
rs149130696 497 G>V No ESP
ExAC
TOPMed
gnomAD
rs1553957797 498 H>R No Ensembl
rs1678395330 500 T>A No TOPMed
rs1678397217 501 L>P No TOPMed
gnomAD
rs1678400941 502 G>E No TOPMed
rs1553957823 502 G>R No gnomAD
rs587773830 503 A>D No 1000Genomes
ExAC
TOPMed
gnomAD
rs920875844 503 A>T No gnomAD
rs1223153578 504 Q>* No Ensembl
COSM4932769
rs782743019
COSM4932768
 504 Q>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs782743019 504 Q>R No ExAC
TOPMed
gnomAD
rs781817086 505 K>E No ExAC
gnomAD
rs1572000556 505 K>N No Ensembl
rs782513568 506 P>A No ExAC
gnomAD
rs1572000642 506 P>L No Ensembl
rs367859293 507 A>T No TOPMed
gnomAD
rs1295156078 508 A>T No TOPMed
gnomAD
rs781900246 508 A>V No ExAC
gnomAD
rs781862332 509 D>N No TOPMed
gnomAD
rs1678418713 511 D>E No TOPMed
rs587738033 512 L>F No 1000Genomes
ExAC
TOPMed
gnomAD
rs587738033 512 L>V No 1000Genomes
ExAC
TOPMed
gnomAD
rs782476079 513 Q>* No ExAC
gnomAD
COSM4923023
COSM4923022
 513 Q>= Variant assessed as Somatic; LOW impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1410062996 515 S>I No TOPMed
rs782014123 515 S>R No ExAC
gnomAD
rs1395205042 516 E>D No TOPMed
gnomAD
rs1680201806 517 I>R No Ensembl
COSM4021819 517 I>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs782309859 518 L>F No ExAC
gnomAD
rs1680206125 519 K>N No TOPMed
rs781952807 519 K>T No ExAC
TOPMed
gnomAD
rs782129627 520 F>L No ExAC
gnomAD
rs201567836 521 G>D No ESP
ExAC
TOPMed
gnomAD
rs587726873 522 L>F No 1000Genomes
ExAC
TOPMed
gnomAD
rs781905773 522 L>V No ExAC
rs375685901 526 L>M No ESP
TOPMed
gnomAD
rs375685901 526 L>V No ESP
TOPMed
gnomAD
rs1553960737 527 A>V No gnomAD
rs1680216324 528 S>* No TOPMed
rs782717581 528 S>F No ExAC
rs1680218929 529 E>G No TOPMed
rs1553960758 530 G>E No gnomAD
rs1553960758 530 G>V No gnomAD
rs782651981 532 T>I No ExAC
TOPMed
gnomAD
rs782651981 532 T>S No ExAC
TOPMed
gnomAD
rs1020714011 533 M>I No TOPMed
gnomAD
rs373424057
RCV000914510
 533 M>T No ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs1553960790 534 D>E No gnomAD
rs1553960779 534 D>G No gnomAD
rs967797595 535 E>D No Ensembl
rs370004935 536 I>T No ESP
ExAC
TOPMed
gnomAD
rs1553960809 539 E>G No gnomAD
rs1348881207 539 E>K No TOPMed
rs1680230862 540 S>C No Ensembl
rs7547279 541 I>M No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1553960836 544 E>D No gnomAD
rs782668430 544 E>Q No ExAC
gnomAD
rs782323069 547 D>G No ExAC
TOPMed
gnomAD
rs782323069 547 D>V No ExAC
TOPMed
gnomAD
rs782228698 548 G>D No ExAC
gnomAD
rs1553960865 549 Q>* No gnomAD
rs1680243027 549 Q>P No TOPMed
rs1442168377 550 W>* No TOPMed
rs1680246911 552 S>P No TOPMed
rs1553960883 554 A>V No gnomAD
rs1305657829 557 A>T No TOPMed
gnomAD
rs782423742 557 A>V No ExAC
gnomAD
rs1559853518 558 A>V No Ensembl
rs1553960907 559 E>A No gnomAD
rs782059967 559 E>D No ExAC
rs1680262841 560 G>E No gnomAD
rs1375713834 560 G>R No TOPMed
gnomAD
rs1172576878 561 G>E No TOPMed
gnomAD
rs781948152 561 G>W No ExAC
gnomAD
COSM70167 562 S>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs782126374 563 R>G No ExAC
gnomAD
rs782749767 563 R>S No ExAC
TOPMed
gnomAD
COSM895286
rs1680272591
COSM4530347
 564 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TOPMed
rs1409944475 564 D>V No TOPMed
rs587765720 565 Q>E No 1000Genomes
ExAC
gnomAD
rs1680277019 566 E>Q No TOPMed
TCGA novel 568 G>= Variant assessed as Somatic; LOW impact. [NCI-TCGA] No NCI-TCGA
rs781830629 568 G>V No ExAC
TOPMed
gnomAD
rs782302924 569 K>R No ExAC
TOPMed
gnomAD
rs781970306 570 N>S No ExAC
gnomAD
rs782078021 571 H>L No ExAC
gnomAD
rs782078021 571 H>R No ExAC
gnomAD
rs1016730630 571 H>Y No Ensembl
rs782375872 572 M>I No ExAC
gnomAD
rs1553963839 572 M>R No gnomAD
rs1553963839 572 M>T No gnomAD
rs1317953767 572 M>V No TOPMed
rs782035465 574 L>V No ExAC
TOPMed
gnomAD
rs1553963851 575 F>L No TOPMed
gnomAD
rs368117603 576 E>G No ESP
ExAC
TOPMed
gnomAD
rs1682201785 576 E>Q No gnomAD
rs372796148 577 G>D No ESP
TOPMed
gnomAD
rs1682203773 577 G>S No TOPMed
rs781795332 578 K>* No ExAC
gnomAD
rs1553963880 578 K>N No TOPMed
gnomAD
rs1553963886 579 D>A No gnomAD
rs149791343 579 D>N No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs149791343 579 D>Y No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs372035697 580 Y>H No ESP
TOPMed
gnomAD
rs782729483 580 Y>S No ExAC
gnomAD
rs1388426233 581 S>F No TOPMed
gnomAD
rs373716000 582 K>E No ESP
TOPMed
gnomAD
rs1466245306 582 K>N No TOPMed
gnomAD
rs980607852 583 E>G No Ensembl
rs1423006272 584 P>S No TOPMed
gnomAD
rs1423006272 584 P>T No TOPMed
gnomAD
rs781879102 586 K>E No ExAC
gnomAD
rs1682220859 586 K>R No TOPMed
rs587598833 588 D>E No 1000Genomes
ExAC
gnomAD
rs927836458 588 D>N No gnomAD
TCGA novel 589 R>K Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs781882129 589 R>K No ExAC
gnomAD
TCGA novel 589 R>W Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs782451462 592 F>S No ExAC
gnomAD
rs1682229176 593 E>G No TOPMed
COSM6121033
COSM6121032
 593 E>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs781926264 594 Q>H No ExAC
TOPMed
gnomAD
rs1682230372 594 Q>K No gnomAD
rs782565499 594 Q>P No ExAC
TOPMed
gnomAD
rs1270058771 595 L>R No Ensembl
rs782340867 596 V>I No ExAC
gnomAD
rs1553963987 598 L>F No TOPMed
gnomAD
rs1553963987 598 L>V No TOPMed
gnomAD
rs1682241041 599 Q>* No TOPMed
rs143869639 600 K>T No ESP
ExAC
TOPMed
gnomAD
rs1682244623 602 L>R No TOPMed
rs1682243678 602 L>V No TOPMed
gnomAD
rs1682246495 604 E>K No gnomAD
rs587665798 606 A>T No 1000Genomes
ExAC
gnomAD
rs782055060 607 S>G No ExAC
gnomAD
rs1682251037 608 Q>* No TOPMed
rs1043534922 608 Q>H No Ensembl
rs201105160 609 E>K No 1000Genomes
ExAC
TOPMed
gnomAD
rs781961050 611 R>* No ExAC
TOPMed
gnomAD
rs368838337 611 R>P No ESP
ExAC
TOPMed
gnomAD
rs368838337
CA1063844
COSM1730947
RCV000413329
 611 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA Cosmic
ClinVar
ESP
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
rs781895819 612 S>* No ExAC
TOPMed
gnomAD
rs1682255908 612 S>A No Ensembl
COSM4021820 612 S>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
RCV000728724
rs587651895
 614 R>* No ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
COSM2121612
COSM4220189
rs782711426
 614 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs782486406 615 N>S No ExAC
TOPMed
gnomAD
rs781788592 615 N>Y No ExAC
TOPMed
gnomAD
rs1329107063 617 G>D No TOPMed
gnomAD
rs1553964636 619 V>A No gnomAD
rs1682641236 619 V>I No TOPMed
rs1553964639 621 I>M No gnomAD
rs2102906165 622 P>A No Ensembl
rs1553964649 622 P>L No TOPMed
gnomAD
rs1553964649 622 P>Q No TOPMed
gnomAD
rs1553964649 622 P>R No TOPMed
gnomAD
TCGA novel 623 G>R Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1268723842 624 L>I No TOPMed
gnomAD
TCGA novel 625 V>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 627 G>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1553964676 628 S>T No TOPMed
gnomAD
rs1682649077 628 S>Y No Ensembl
rs199838516 629 T>A No TOPMed
gnomAD
rs1553964700 630 K>E No gnomAD
rs782474016 631 R>S No ExAC
TOPMed
gnomAD
rs373244397 632 K>N No ESP
TOPMed
gnomAD
rs1318126587 632 K>R No TOPMed
gnomAD
rs200997862 633 R>G No ExAC
TOPMed
gnomAD
rs782545021 633 R>Q No ExAC
TOPMed
gnomAD
rs200997862
COSM5200386
COSM423716
 633 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1682658886 634 V>F No TOPMed
COSM3473187 637 P>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1553964751 642 D>N No gnomAD
RCV000736171
rs782144677
 643 R>missing No ClinVar
dbSNP
rs1392391047 643 R>G No TOPMed
gnomAD
rs782186694 644 Q>* No ExAC
gnomAD
rs782186694 644 Q>E No ExAC
gnomAD
rs376204165 645 K>E No ESP
ExAC
TOPMed
gnomAD
rs782213864 645 K>R No ExAC
gnomAD
rs782213864 645 K>T No ExAC
gnomAD
rs782391914 646 K>I No ExAC
TOPMed
rs782391914 646 K>R No ExAC
TOPMed
rs782391914 646 K>T No ExAC
TOPMed
rs1682676870 647 R>S No TOPMed
rs1682677930 648 Q>* No TOPMed
rs2102907530 648 Q>L No Ensembl
rs13374920
VAR_042956
RCV000948556
 649 E>A No ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs202231038 652 A>G No 1000Genomes
ExAC
gnomAD
RCV002227882
rs2102907683
 652 A>T No ClinVar
Ensembl
dbSNP
rs782707976 653 K>R No ExAC
TOPMed
gnomAD
rs1553964835 655 R>K No TOPMed
gnomAD
rs782099084 656 R>G No ExAC
gnomAD
rs782748794 656 R>K No ExAC
gnomAD
rs781880621 657 L>F No ExAC
gnomAD
rs1232472154 658 I>K No TOPMed
gnomAD
rs1275162587 658 I>L No TOPMed
rs1232472154 658 I>R No TOPMed
gnomAD
rs1232472154 658 I>T No TOPMed
gnomAD
COSM895287 658 I>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs782510204 659 E>G No ExAC
gnomAD
rs1682701912 659 E>K No Ensembl
rs1553964875 660 E>A No gnomAD
rs782817996 661 K>N No ExAC
TOPMed
gnomAD
rs142236750 662 K>N No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs369368487 662 K>R No ESP
ExAC
TOPMed
gnomAD
rs138412639 663 R>K No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs782647696 664 Q>R No ExAC
gnomAD
rs782246239 666 E>A No ExAC
TOPMed
gnomAD
rs782422534 667 E>K No ExAC
gnomAD
rs782586692 668 A>T No ExAC
TOPMed
gnomAD
rs1382756923 669 E>G No TOPMed
gnomAD
rs1682724350 669 E>K No Ensembl
rs1382756923 669 E>V No TOPMed
gnomAD
rs587713818 670 H>R No 1000Genomes
ExAC
TOPMed
gnomAD
rs372851796 672 K>R No ESP
ExAC
gnomAD
rs1683109073 674 M>I No TOPMed
gnomAD
COSM4021821 674 M>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1559881178 674 M>V No Ensembl
rs1553965597 675 A>T No gnomAD
rs782699096 675 A>V No ExAC
TOPMed
gnomAD
rs781837132 676 W>* No ExAC
gnomAD
rs782470364 676 W>C No ExAC
gnomAD
rs1559881253 676 W>G No Ensembl
rs782774749 677 W>C No ExAC
TOPMed
gnomAD
TCGA novel 680 N>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1683115965 680 N>H No Ensembl
rs782558143
RCV000592190
CA1063952
 680 N>K No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs201672731 680 N>T No ExAC
TOPMed
gnomAD
rs1553965637 681 N>S No gnomAD
rs782650323 682 Y>C No ExAC
TOPMed
gnomAD
rs1335439107 683 Q>P No TOPMed
gnomAD
rs1335439107 683 Q>R No TOPMed
gnomAD
rs528197071 684 S>F No ExAC
TOPMed
gnomAD
rs1553965677 685 F>V No gnomAD
rs143929740 686 C>S No ESP
TOPMed
gnomAD
rs782218590 688 P>L No ExAC
gnomAD
rs782624893 688 P>S No ExAC
gnomAD
rs148362148 691 E>D No ESP
ExAC
TOPMed
gnomAD
rs1553965731 692 S>G No gnomAD
rs587607898 692 S>R No 1000Genomes
ExAC
TOPMed
gnomAD
rs1433353778 693 E>A No TOPMed
gnomAD
rs1173564461 693 E>K No TOPMed
gnomAD
rs1553965744 694 P>A No gnomAD
rs1553965744 694 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
TCGA novel 695 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1392761683 695 E>K No TOPMed
rs1159841268 696 D>E No TOPMed
gnomAD
COSM3801683
COSM5203423
 698 E>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1553965762 699 N>S No gnomAD
rs139791996
RCV002218477
 700 G>R No ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs782727796 703 S>I No ExAC
gnomAD
rs782001739 703 S>R No ExAC
TOPMed
gnomAD
rs782114076 704 S>A No ExAC
TOPMed
gnomAD
rs782114076 704 S>P No ExAC
TOPMed
gnomAD
rs375815490 705 A>T No ESP
ExAC
gnomAD
rs1553965822 705 A>V No gnomAD
rs1443935605
CA342209141
RCV000522058
 706 E>G No ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
rs587746905 706 E>K No 1000Genomes
ExAC
gnomAD
rs1257896489 707 L>Q No TOPMed
COSM3688970
COSM5134693
 708 D>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs782720118 708 D>G No ExAC
gnomAD
rs1559882501 708 D>H No Ensembl
rs141548764 709 Y>* No ESP
ExAC
TOPMed
gnomAD
rs1683148588 710 Q>* No Ensembl
rs1224453691 710 Q>R No TOPMed
gnomAD
rs201205825 711 D>Y No 1000Genomes
gnomAD
rs1013729045 712 P>Q No Ensembl
rs1572138596 713 D>E No TOPMed
rs782476225 714 A>D No ExAC
TOPMed
gnomAD
rs1025544408 718 K>E No Ensembl
rs782656610 718 K>R No ExAC
rs200761960 720 V>I No 1000Genomes
ExAC
TOPMed
gnomAD
rs1559882906 721 S>I No Ensembl
rs587733205 721 S>R No 1000Genomes
ExAC
TOPMed
gnomAD
rs781953217 721 S>T No ExAC
gnomAD
rs1356531830 722 G>D No TOPMed
gnomAD
rs1683161954 723 D>H No Ensembl
rs372787282 725 T>I No ESP
ExAC
TOPMed
gnomAD
rs372787282 725 T>S No ESP
ExAC
TOPMed
gnomAD
rs782032017 726 H>N No ExAC
TOPMed
gnomAD
rs782318754 727 P>H No ExAC
TOPMed
gnomAD
rs782318754 727 P>R No ExAC
TOPMed
gnomAD
rs587709474 728 Q>H No 1000Genomes
ExAC
gnomAD
rs1383533109 728 Q>R No Ensembl
rs1553965979 730 G>V No gnomAD
rs782105428 730 G>W No ExAC
TOPMed
gnomAD
rs1683172388 731 A>S No Ensembl
rs782120913 732 E>K No ExAC
TOPMed
gnomAD
rs782813032 734 A>V No ExAC
TOPMed
gnomAD
rs1553966004 735 L>F No gnomAD
rs1553966004 735 L>V No gnomAD
rs1553966024 736 I>T No gnomAD
rs148675923 738 H>N No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs782625612 738 H>R No ExAC
rs148675923 738 H>Y No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs142193146 740 V>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs142193146
COSM1472546
COSM5229854
 740 V>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
ExAC
TOPMed
gnomAD
NCI-TCGA Cosmic
NCI-TCGA
rs782402608 741 D>H No ExAC
rs1683723539 742 D>G No gnomAD
rs782610593 742 D>Y No ExAC
gnomAD
rs782223724 743 S>A No ExAC
gnomAD
VAR_042957
RCV001674491
rs2275249
 743 S>C No ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs2275249 743 S>F No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2102944320 744 G>A No Ensembl
rs1683729637 744 G>S No TOPMed
rs12033160 745 H>Q No TOPMed
gnomAD
rs781854060 745 H>R No ExAC
TOPMed
gnomAD
rs782630219 745 H>Y No ExAC
gnomAD
rs1553967058 746 W>* No gnomAD
rs1683735309 746 W>R No Ensembl
rs1045551687 747 G>D No TOPMed
gnomAD
rs1045551687 747 G>V No TOPMed
gnomAD
rs1683739459 749 G>S No TOPMed
rs782404802 751 L>V No ExAC
TOPMed
gnomAD
rs781935687 752 F>L No ExAC
gnomAD
rs1358593430 752 F>L No TOPMed
gnomAD
rs1553967091 753 T>R No TOPMed
gnomAD
rs1174245880 756 E>Q No TOPMed
rs1683747069 757 K>E No Ensembl
rs190301424 758 R>* No 1000Genomes
ExAC
TOPMed
gnomAD
rs370710748 758 R>L No ExAC
TOPMed
gnomAD
COSM5228107
COSM423718
 758 R>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs370710748 758 R>Q No ExAC
TOPMed
gnomAD
rs782817356 759 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs1683751086 759 S>P No gnomAD
rs782687350 760 A>P No ExAC
TOPMed
gnomAD
rs782687350 760 A>S No ExAC
TOPMed
gnomAD
COSM1688474 760 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1683756472 761 E>* No Ensembl
rs1683757358 762 P>A No TOPMed
gnomAD
rs1260311857 762 P>R No TOPMed
gnomAD
rs1683757358 762 P>S No TOPMed
gnomAD
rs375162292 763 R>G No ESP
TOPMed
gnomAD
TCGA novel 763 R>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1022311001 764 K>E No Ensembl
rs1683761019 764 K>R No TOPMed
RCV002114114
rs148289715
 765 I>M No ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1254865890 765 I>T No TOPMed
gnomAD
rs781832900 765 I>V No ExAC
TOPMed
gnomAD
rs587597741 766 Y>C No 1000Genomes
ExAC
gnomAD
rs1553967171 766 Y>N No gnomAD
rs781859702 768 L>V No ExAC
gnomAD
rs986647106 769 A>D No Ensembl
rs1553967196 769 A>S No gnomAD
rs782550003 770 G>A No ExAC
gnomAD
rs782550003 770 G>E No ExAC
gnomAD
rs1348328085 770 G>R No TOPMed
gnomAD
rs1348328085 770 G>W No TOPMed
gnomAD
rs1683774733 771 K>E No Ensembl
rs143800773 771 K>I No ESP
ExAC
TOPMed
gnomAD
rs143800773 771 K>R No ESP
ExAC
TOPMed
gnomAD
rs782450061 772 M>I No ExAC
TOPMed
gnomAD
rs782431108 772 M>R No Ensembl
TCGA novel 773 K>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1683781024 773 K>Q No Ensembl
rs1398737020 774 D>E No TOPMed
gnomAD
rs201898934 774 D>N No ExAC
TOPMed
gnomAD
rs1685509984 775 L>P No Ensembl
rs782292994 776 S>C No ExAC
TOPMed
gnomAD
rs782292994 776 S>G No ExAC
TOPMed
gnomAD
rs61756300
RCV000969409
 776 S>R No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinVar
dbSNP
rs1452160882 777 L>F No TOPMed
gnomAD
rs1553970441 779 G>A No gnomAD
rs1553970441 779 G>D No gnomAD
rs868931664 779 G>S No gnomAD
rs1179017911 780 V>A No TOPMed
gnomAD
rs1685519282 780 V>I No Ensembl
rs76912870 782 L>S No 1000Genomes
ExAC
TOPMed
gnomAD
rs782054927 783 F>I No ExAC
TOPMed
gnomAD
rs782054927 783 F>L No ExAC
TOPMed
gnomAD
rs1443036471 785 V>I No TOPMed
gnomAD
rs1310544526 788 K>* No TOPMed
rs782587273 791 R>G No ExAC
gnomAD
rs782266228 792 N>K No ExAC
TOPMed
gnomAD
rs2103005527 793 K>N No Ensembl
TCGA novel 793 K>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1375353471 794 G>V No TOPMed
gnomAD
rs1286425690 795 Q>E No TOPMed
rs1449356648 796 D>A No TOPMed
gnomAD
rs1553970560 796 D>H No TOPMed
rs1449356648 796 D>V No TOPMed
gnomAD
RCV000523146
rs1553970560
CA342211124
 796 D>Y No ClinGen
ClinVar
TOPMed
dbSNP
rs1420386811 798 L>S No TOPMed
gnomAD
rs150536851 799 A>S No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs781804099 800 L>S No ExAC
TOPMed
gnomAD
rs1553972931 801 I>S No TOPMed
gnomAD
rs1553972931 801 I>T No TOPMed
gnomAD
rs1686427991 802 V>L No TOPMed
rs1259425316 803 A>T No TOPMed
gnomAD
RCV000911849
rs149664186
RCV000594735
CA1064099
 804 Q>* No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs782298619 806 R>C No ExAC
TOPMed
gnomAD
rs147666732 806 R>H No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs781837246 807 D>H No TOPMed
gnomAD
rs782680914
COSM3730124
COSM4220212
 808 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1006441553 808 R>H No TOPMed
gnomAD
rs1553973054 809 S>C No gnomAD
rs1553973045 809 S>P No gnomAD
rs782199063 810 N>S No ExAC
TOPMed
gnomAD
rs782361440 811 V>I No ExAC
gnomAD
TCGA novel 812 L>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1686443845 812 L>P No Ensembl
rs782111228 813 S>Y No ExAC
TOPMed
gnomAD
rs1553973096 814 G>R No gnomAD
rs1553973102 814 G>V No gnomAD
rs1553973106 816 K>N No TOPMed
gnomAD
rs1400464743 817 M>I No gnomAD
rs1294338469 817 M>K No TOPMed
gnomAD
rs1294338469 817 M>T No TOPMed
gnomAD
rs782014875 818 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs1553973148 818 A>V No TOPMed
gnomAD
rs145436064 820 L>V No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs140537285 821 E>* No ESP
ExAC
TOPMed
gnomAD
rs140537285 821 E>K No ESP
ExAC
TOPMed
gnomAD
rs1471434499 823 G>D No TOPMed
rs1157757508 823 G>S No TOPMed
gnomAD
rs1419532152 824 L>P No TOPMed
gnomAD
rs782077111 825 K>N No ExAC
TOPMed
gnomAD
rs1686468369 825 K>R No TOPMed
rs2103032331 826 K>E No Ensembl
rs1559917841 827 I>K No Ensembl
rs148434783
RCV002175135
 827 I>V No ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs782570086 828 F>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
rs1423054249 828 F>L No TOPMed
gnomAD
TCGA novel 829 L>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1253751844 830 A>G No TOPMed
gnomAD
rs1253751844 830 A>V No TOPMed
gnomAD
rs201165419 831 A>P No 1000Genomes
ExAC
gnomAD
rs1553973253 831 A>V No TOPMed
gnomAD
rs782015121 833 K>E No Ensembl
rs1553974340 837 S>T No gnomAD
TCGA novel 838 V>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs369192147 838 V>L No ESP
ExAC
TOPMed
gnomAD
rs1026015295 839 H>R No TOPMed
gnomAD
rs2103041406 839 H>Y No Ensembl
rs587766046 840 L>F No 1000Genomes
ExAC
TOPMed
gnomAD
rs112733685 840 L>P No Ensembl
rs1553974416 841 P>A No gnomAD
rs2103041519 841 P>L No Ensembl
COSM674766
rs1553974416
 841 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
gnomAD
rs782175604 842 R>C No ExAC
TOPMed
gnomAD
VAR_086613
rs782473109
COSM4021822
 842 R>H Variant assessed as Somatic; MODERATE impact. found in patients with cancer; loss of auto-inhibition, leading to constitutive ATP-dependent chromatin remodeler activity [NCI-TCGA, UniProt] No NCI-TCGA Cosmic
UniProt
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
rs782595154 843 I>S No ExAC
gnomAD
rs782595154 843 I>T No ExAC
gnomAD
rs782260077 844 G>R No ExAC
TOPMed
gnomAD
rs1553974480 845 H>R No TOPMed
gnomAD
rs782369690 845 H>Y No ExAC
TOPMed
gnomAD
rs868984459 846 A>D No Ensembl
rs1553974486 846 A>T No gnomAD
rs868984459 846 A>V No Ensembl
rs373116065 847 T>M No ESP
ExAC
TOPMed
gnomAD
rs148225662 848 K>E No ESP
TOPMed
gnomAD
rs587718472 849 G>C No 1000Genomes
ExAC
TOPMed
gnomAD
rs587718472 849 G>S No 1000Genomes
ExAC
TOPMed
gnomAD
rs1358136615 849 G>V No TOPMed
COSM423719
rs1553974573
VAR_086614
COSM5832265
 852 W>C Variant assessed as Somatic; MODERATE impact. found in patients with cancer; loss of auto-inhibition, leading to constitutive ATP-dependent chromatin remodeler activity [NCI-TCGA, UniProt] No NCI-TCGA Cosmic
NCI-TCGA
gnomAD
UniProt
dbSNP
rs1173615115 853 Y>C No TOPMed
gnomAD
rs782723083 854 G>V No ExAC
gnomAD
rs1572256773 855 T>I No Ensembl
rs1572256773 855 T>S No Ensembl
rs2103042169 856 E>Q No Ensembl
rs782007432 857 R>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
VAR_086615
COSM3399673
rs1180954265
 857 R>Q Variant assessed as Somatic; MODERATE impact. found in patients with cancer; loss of auto-inhibition, leading to constitutive ATP-dependent chromatin remodeler activity [NCI-TCGA, UniProt] No NCI-TCGA Cosmic
UniProt
NCI-TCGA
TOPMed
dbSNP
TCGA novel 858 L>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs782120249 859 I>N No ExAC
gnomAD
rs782120249 859 I>T No ExAC
gnomAD
rs139712616 860 R>G No ESP
ExAC
TOPMed
gnomAD
rs377751265 860 R>Q No ESP
ExAC
TOPMed
gnomAD
rs139712616
VAR_086616
COSM895289
 860 R>W Variant assessed as Somatic; MODERATE impact. found in patients with cancer; loss of auto-inhibition, leading to constitutive ATP-dependent chromatin remodeler activity [NCI-TCGA, UniProt] No NCI-TCGA Cosmic
UniProt
ESP
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
rs782759083 862 H>R No ExAC
gnomAD
rs2103042431 864 A>P No Ensembl
TCGA novel 864 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs781816199 864 A>V No ExAC
TOPMed
gnomAD
rs2103042483 865 A>T No Ensembl
rs1553974704 866 R>G No TOPMed
gnomAD
rs1686840683 867 G>D No gnomAD
rs782521400 867 G>S No ExAC
TOPMed
gnomAD
rs1686840683 867 G>V No gnomAD
rs2103042604 868 I>M No Ensembl
rs1553974729 868 I>T No gnomAD
rs782630838 869 P>R No ExAC
gnomAD
COSM4021823 870 T>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1553974755 870 T>I No TOPMed
gnomAD
rs782497810 871 Y>* No ExAC
gnomAD
rs2103042704 871 Y>N No Ensembl
rs370660814 872 I>M No ESP
ExAC
TOPMed
gnomAD
rs782541065 872 I>T No ExAC
TOPMed
gnomAD
rs781901195 872 I>V No ExAC
gnomAD
rs1182316367 873 Y>H No TOPMed
gnomAD
rs1553976151 876 P>H No gnomAD
rs1553976151 876 P>L No gnomAD
rs1687187927 877 R>K No gnomAD
rs201834043 878 S>G No 1000Genomes
gnomAD
rs782231915 878 S>N No ExAC
gnomAD
rs1687190827 879 K>* No Ensembl
rs587765141 880 S>F No 1000Genomes
ExAC
gnomAD
rs587765141 880 S>Y No 1000Genomes
ExAC
gnomAD
rs1553976206 881 A>T No gnomAD
rs1241349424 882 V>I No TOPMed
rs1241349424 882 V>L No TOPMed
rs1465492698 883 L>F No TOPMed
gnomAD
rs1553976228 884 H>N No gnomAD
rs1687199325 884 H>P No TOPMed
rs4950394
RCV000952812
VAR_042958
 885 S>A No ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs4950394 885 S>P No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs4950394 885 S>T No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs782103548 886 Q>K No ExAC
gnomAD
rs782429928 886 Q>L No ExAC
TOPMed
gnomAD
rs782429928 886 Q>P No ExAC
TOPMed
gnomAD
TCGA novel 886 Q>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1323833951 891 S>F No TOPMed
gnomAD
rs782010267 892 S>A No ExAC
TOPMed
gnomAD
rs782010267 892 S>P No ExAC
TOPMed
gnomAD
rs1381492597 893 R>G No TOPMed
rs1553976361 894 Q>* No TOPMed
gnomAD
rs1553976361 894 Q>E No TOPMed
gnomAD
rs201349327 896 V>L No ExAC
TOPMed
gnomAD
RCV000994093
rs201349327
 896 V>M No ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs1687216552 897 P>A No TOPMed
rs782092066 897 P>R No ExAC
TOPMed
gnomAD
rs1687218148 898 P>E No TOPMed

No associated diseases with Q86WJ1

3 regional properties for Q86WJ1

Type Name Position InterPro Accession
domain Peptidase S3, togavirin 108 - 268 IPR000930
domain Alphavirus E3 spike glycoprotein 274 - 326 IPR002533
domain Alphavirus E1 glycoprotein 749 - 1238 IPR002548

Functions

Description
EC Number 3.6.4.- Acting on ATP; involved in cellular and subcellular movement
Subcellular Localization
  • Nucleus
  • Chromosome
  • Localizes at sites of DNA damage; recruited by histones H2B and H3 poly-ADP-ribosylated on 'Ser-6' and 'Ser-10', respectively (H2BS6ADPr and H3S10ADPr) by PARP1 or PARP2
PANTHER Family PTHR47157 CHROMODOMAIN-HELICASE-DNA-BINDING PROTEIN 1-LIKE
PANTHER Subfamily PTHR47157:SF1 CHROMODOMAIN-HELICASE-DNA-BINDING PROTEIN 1-LIKE
PANTHER Protein Class chromatin/chromatin-binding, or -regulatory protein
PANTHER Pathway Category Wnt signaling pathway
SWI/SNF

6 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.
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.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
site of DNA damage A region of a chromosome at which DNA damage has occurred. DNA damage signaling and repair proteins accumulate at the lesion to respond to the damage and repair the DNA to form a continuous DNA helix.
site of double-strand break A region of a chromosome at which a DNA double-strand break has occurred. DNA damage signaling and repair proteins accumulate at the lesion to respond to the damage and repair the DNA to form a continuous DNA helix.

8 GO annotations of molecular function

Name Definition
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
ATP hydrolysis activity Catalysis of the reaction
ATP-dependent chromatin remodeler activity An activity, driven by ATP hydrolysis, that modulates the contacts between histones and DNA, resulting in a change in chromosome architecture within the nucleosomal array, leading to chromatin remodeling.
DNA helicase activity Unwinding of a DNA helix, driven by ATP hydrolysis.
histone reader activity A chromatin adaptor that recognizes specific forms of histones, either modified by a post-translational modification, or the unmodified form. Histone readers have roles in many processes, including in centromere function or in modulating the accessibility of cis-regulatory regions to the transcription machinery.
nucleosome binding Binding to a nucleosome, a complex comprised of DNA wound around a multisubunit core and associated proteins, which forms the primary packing unit of DNA into higher order structures.
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.
poly-ADP-D-ribose modification-dependent protein binding Binding to a protein upon poly-ADP-ribosylation of the target protein.

3 GO annotations of biological process

Name Definition
chromatin remodeling A dynamic process of chromatin reorganization resulting in changes to chromatin structure. These changes allow DNA metabolic processes such as transcriptional regulation, DNA recombination, DNA repair, and DNA replication.
DNA damage response 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 a stimulus indicating damage to its DNA from environmental insults or errors during metabolism.
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.

13 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q3B7N1 CHD1L Chromodomain-helicase-DNA-binding protein 1-like Bos taurus (Bovine) SS
Q24368 Iswi Chromatin-remodeling complex ATPase chain Iswi Drosophila melanogaster (Fruit fly) SS
O60264 SMARCA5 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 5 Homo sapiens (Human) EV
P28370 SMARCA1 Probable global transcription activator SNF2L1 Homo sapiens (Human) SS
Q9NRZ9 HELLS Lymphoid-specific helicase Homo sapiens (Human) PR
Q60848 Hells Lymphocyte-specific helicase Mus musculus (Mouse) PR
Q91ZW3 Smarca5 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 5 Mus musculus (Mouse) SS
Q6PGB8 Smarca1 Probable global transcription activator SNF2L1 Mus musculus (Mouse) SS
Q9CXF7 Chd1l Chromodomain-helicase-DNA-binding protein 1-like Mus musculus (Mouse) SS
Q7G8Y3 Os01g0367900 Probable chromatin-remodeling complex ATPase chain Oryza sativa subsp japonica (Rice) PR
P41877 isw-1 Chromatin-remodeling complex ATPase chain isw-1 Caenorhabditis elegans SS
Q8RWY3 CHR11 ISWI chromatin-remodeling complex ATPase CHR11 Arabidopsis thaliana (Mouse-ear cress) PR
Q9XFH4 DDM1 ATP-dependent DNA helicase DDM1 Arabidopsis thaliana (Mouse-ear cress) PR
10 20 30 40 50 60
MERAGATSRG GQAPGFLLRL HTEGRAEAAR VQEQDLRQWG LTGIHLRSYQ LEGVNWLAQR
70 80 90 100 110 120
FHCQNGCILG DEMGLGKTCQ TIALFIYLAG RLNDEGPFLI LCPLSVLSNW KEEMQRFAPG
130 140 150 160 170 180
LSCVTYAGDK EERACLQQDL KQESRFHVLL TTYEICLKDA SFLKSFPWSV LVVDEAHRLK
190 200 210 220 230 240
NQSSLLHKTL SEFSVVFSLL LTGTPIQNSL QELYSLLSFV EPDLFSKEEV GDFIQRYQDI
250 260 270 280 290 300
EKESESASEL HKLLQPFLLR RVKAEVATEL PKKTEVVIYH GMSALQKKYY KAILMKDLDA
310 320 330 340 350 360
FENETAKKVK LQNILSQLRK CVDHPYLFDG VEPEPFEVGD HLTEASGKLH LLDKLLAFLY
370 380 390 400 410 420
SGGHRVLLFS QMTQMLDILQ DYMDYRGYSY ERVDGSVRGE ERHLAIKNFG QQPIFVFLLS
430 440 450 460 470 480
TRAGGVGMNL TAADTVIFVD SDFNPQNDLQ AAARAHRIGQ NKSVKVIRLI GRDTVEEIVY
490 500 510 520 530 540
RKAASKLQLT NMIIEGGHFT LGAQKPAADA DLQLSEILKF GLDKLLASEG STMDEIDLES
550 560 570 580 590 600
ILGETKDGQW VSDALPAAEG GSRDQEEGKN HMYLFEGKDY SKEPSKEDRK SFEQLVNLQK
610 620 630 640 650 660
TLLEKASQEG RSLRNKGSVL IPGLVEGSTK RKRVLSPEEL EDRQKKRQEA AAKRRRLIEE
670 680 690 700 710 720
KKRQKEEAEH KKKMAWWESN NYQSFCLPSE ESEPEDLENG EESSAELDYQ DPDATSLKYV
730 740 750 760 770 780
SGDVTHPQAG AEDALIVHCV DDSGHWGRGG LFTALEKRSA EPRKIYELAG KMKDLSLGGV
790 800 810 820 830 840
LLFPVDDKES RNKGQDLLAL IVAQHRDRSN VLSGIKMAAL EEGLKKIFLA AKKKKASVHL
850 860 870 880 890
PRIGHATKGF NWYGTERLIR KHLAARGIPT YIYYFPRSKS AVLHSQSSSS SSRQLVP