CleftGeneDB-Search

Gene: CECR2

Basic information

Tag	Content
Uniprot ID	Q9BXF3; A8MS90; A8MX16; Q658Z4; Q96P58; Q9C0C3;
Entrez ID	27443
Genbank protein ID	AAK15343.1; CAH56212.1; AAL07393.1; BAB21831.1; EAW57756.1; CAH56122.1;
Genbank nucleotide ID	NM_001290046.1; NM_001290047.1;
Ensembl protein ID	ENSP00000341219
Ensembl nucleotide ID	ENSG00000099954
Gene name	Cat eye syndrome critical region protein 2
Gene symbol	CECR2
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Chromatin reader component of histone-modifying complexes, such as the CERF (CECR2-containing-remodeling factor) complex and ISWI-type complex (PubMed:15640247, PubMed:26365797, PubMed:22464331). It thereby plays a role in various processes during development: required during embryogenesis for neural tube closure and inner ear development. In adults, required for spermatogenesis, via the formation of ISWI-type chromatin complexes (By similarity). In histone-modifying complexes, CECR2 recognizes and binds acylated histones: binds histones that are acetylated and/or butyrylated (PubMed:26365797, PubMed:22464331). May also be involved through its interaction with LRPPRC in the integration of cytoskeletal network with vesicular trafficking, nucleocytosolic shuttling, transcription, chromosome remodeling and cytokinesis (PubMed:11827465).
Sequence	MCPEEGGAAG LGELRSWWEV PAIAHFCSLF RTAFRLPDFE IEELEAALHR DDVEFISDLI 60 ACLLQGCYQR RDITPQTFHS YLEDIINYRW ELEEGKPNPL REASFQDLPL RTRVEILHRL 120 CDYRLDADDV FDLLKGLDAD SLRVEPLGED NSGALYWYFY GTRMYKEDPV QGKSNGELSL 180 SRESEGQKNV SSIPGKTGKR RGRPPKRKKL QEEILLSEKQ EENSLASEPQ TRHGSQGPGQ 240 GTWWLLCQTE EEWRQVTESF RERTSLRERQ LYKLLSEDFL PEICNMIAQK GKRPQRTKAE 300 LHPRWMSDHL SIKPVKQEET PVLTRIEKQK RKEEEEERQI LLAVQKKEQE QMLKEERKRE 360 LEEKVKAVEG MCSVRVVWRG ACLSTSRPVD RAKRRKLREE RAWLLAQGKE LPPELSHLDP 420 NSPMREEKKT KDLFELDDDF TAMYKVLDVV KAHKDSWPFL EPVDESYAPN YYQIIKAPMD 480 ISSMEKKLNG GLYCTKEEFV NDMKTMFRNC RKYNGESSEY TKMSDNLERC FHRAMMKHFP 540 GEDGDTDEEF WIREDEKREK RRSRAGRSGG SHVWTRSRDP EGSSRKQQPM ENGGKSLPPT 600 RRAPSSGDDQ SSSSTQPPRE VGTSNGRGFS HPLHCGGTPS QAPFLNQMRP AVPGTFGPLR 660 GSDPATLYGS SGVPEPHPGE PVQQRQPFTM QPPVGINSLR GPRLGTPEEK QMCGGLTHLS 720 NMGPHPGSLQ LGQISGPSQD GSMYAPAQFQ PGFIPPRHGG APARPPDFPE SSEIPPSHMY 780 RSYKYLNRVH SAVWNGNHGA TNQGPLGPDE KPHLGPGPSH QPRTLGHVMD SRVMRPPVPP 840 NQWTEQSGFL PHGVPSSGYM RPPCKSAGHR LQPPPVPAPS SLFGAPAQAL RGVQGGDSMM 900 DSPEMIAMQQ LSSRVCPPGV PYHPHQPAHP RLPGPFPQVA HPMSVTVSAP KPALGNPGRA 960 PENSEAQEPE NDQAEPLPGL EEKPPGVGTS EGVYLTQLPH PTPPLQTDCT RQSSPQERET 1020 VGPELKSSSS ESADNCKAMK GKNPWPSDSS YPGPAAQGCV RDLSTVADRG ALSENGVIGE 1080 ASPCGSEGKG LGSSGSEKLL CPRGRTLQET MPCTGQNAAT PPSTDPGLTG GTVSQFPPLY 1140 MPGLEYPNSA AHYHISPGLQ GVGPVMGGKS PASHPQHFPP RGFQSNHPHS GGFPRYRPPQ 1200 GMRYSYHPPP QPSYHHYQRT PYYACPQSFS DWQRPLHPQG SPSGPPASQP PPPRSLFSDK 1260 NAMASLQGCE TLNAALTSPT RMDAVAAKVP NDGQNPGPEE EKLDESMERP ESPKEFLDLD 1320 NHNAATKRQS SLSASEYLYG TPPPLSSGMG FGSSAFPPHS VMLQTGPPYT PQRPASHFQP 1380 RAYSSPVAAL PPHHPGATQP NGLSQEGPIY RCQEEGLGHF QAVMMEQIGT RSGIRGPFQE 1440 MYRPSGMQMH PVQSQASFPK TPTAATSQEE VPPHKPPTLP LDQS 1484

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

PDB ID
3NXB
5V84
3NXB

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	CECR2		A0A452ELZ1		Capra hircus	Prediction	More>>
1:1 ortholog	CECR2	27443	Q9BXF3		Homo sapiens	Prediction	More>>
1:1 ortholog	Cecr2	330409	E9Q2Z1	CPO	Mus musculus	Publication	More>>
1:1 ortholog	CECR2	470135	A0A2I3SEK4		Pan troglodytes	Prediction	More>>
1:1 ortholog	CECR2	100356626	G1SS27		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Cecr2	500308	F1LYI0		Rattus norvegicus	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1392930980	p.Glu5Asp	missense variant	-	NC_000022.11:g.17369798G>C	TOPMed
rs1372571971	p.Gly6Ala	missense variant	-	NC_000022.11:g.17369800G>C	TOPMed
rs1434399422	p.Gly7Asp	missense variant	-	NC_000022.11:g.17369803G>A	TOPMed
rs1172004326	p.Gly7Ser	missense variant	-	NC_000022.11:g.17369802G>A	TOPMed
rs1174432100	p.Gly10Glu	missense variant	-	NC_000022.11:g.17369812G>A	TOPMed
rs1469021362	p.Gly12Ser	missense variant	-	NC_000022.11:g.17369817G>A	TOPMed
rs1232835523	p.Gly12Val	missense variant	-	NC_000022.11:g.17369818G>T	TOPMed
rs1484236852	p.Glu13Lys	missense variant	-	NC_000022.11:g.17369820G>A	TOPMed
rs1484236852	p.Glu13Gln	missense variant	-	NC_000022.11:g.17369820G>C	TOPMed
rs1485817408	p.Arg15Cys	missense variant	-	NC_000022.11:g.17369826C>T	TOPMed
rs1280077529	p.Ser16Phe	missense variant	-	NC_000022.11:g.17369830C>T	TOPMed
rs1230225656	p.Thr32Ser	missense variant	-	NC_000022.11:g.17369878C>G	TOPMed
rs1336198407	p.Phe39Ile	missense variant	-	NC_000022.11:g.17369898T>A	TOPMed
rs1399044746	p.Glu40Lys	missense variant	-	NC_000022.11:g.17369901G>A	TOPMed
rs766096565	p.Glu43Asp	missense variant	-	NC_000022.11:g.17477590G>T	ExAC,gnomAD
rs754934325	p.Ala47Thr	missense variant	-	NC_000022.11:g.17477600G>A	ExAC,gnomAD
rs778366296	p.His49Asn	missense variant	-	NC_000022.11:g.17477606C>A	ExAC,TOPMed,gnomAD
rs1391566594	p.Arg50Gly	missense variant	-	NC_000022.11:g.17477609A>G	gnomAD
NCI-TCGA novel	p.Asp51His	missense variant	-	NC_000022.11:g.17477612G>C	NCI-TCGA
rs1331121402	p.Asp52Val	missense variant	-	NC_000022.11:g.17477616A>T	gnomAD
rs377154507	p.Val53Met	missense variant	-	NC_000022.11:g.17477618G>A	ESP,ExAC,TOPMed,gnomAD
rs1237152097	p.Glu54Gln	missense variant	-	NC_000022.11:g.17477621G>C	TOPMed,gnomAD
rs777368572	p.Ile56Thr	missense variant	-	NC_000022.11:g.17477628T>C	ExAC,gnomAD
rs757929527	p.Ile56Phe	missense variant	-	NC_000022.11:g.17477627A>T	ExAC,gnomAD
rs996600751	p.Cys62Tyr	missense variant	-	NC_000022.11:g.17477646G>A	TOPMed
rs771270218	p.Arg70Gly	missense variant	-	NC_000022.11:g.17477669C>G	ExAC,gnomAD
rs781468489	p.Arg70Gln	missense variant	-	NC_000022.11:g.17477670G>A	ExAC,gnomAD
rs372513605	p.Arg71Lys	missense variant	-	NC_000022.11:g.17477673G>A	ESP,TOPMed
rs1317485057	p.Asp72Tyr	missense variant	-	NC_000022.11:g.17477675G>T	TOPMed
rs770471342	p.Ile73Thr	missense variant	-	NC_000022.11:g.17477679T>C	ExAC,gnomAD
COSM4102401	p.Pro75Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17497404C>T	NCI-TCGA Cosmic
rs1166144825	p.Gln76Arg	missense variant	-	NC_000022.11:g.17497408A>G	gnomAD
rs1349613395	p.Ser80Gly	missense variant	-	NC_000022.11:g.17497419A>G	gnomAD
rs1237244440	p.Ile85Val	missense variant	-	NC_000022.11:g.17497434A>G	TOPMed
rs1349351366	p.Ile86Thr	missense variant	-	NC_000022.11:g.17497438T>C	TOPMed
rs768839952	p.Asn87Ser	missense variant	-	NC_000022.11:g.17497441A>G	ExAC,TOPMed,gnomAD
rs774359092	p.Arg89Cys	missense variant	-	NC_000022.11:g.17497446C>T	ExAC,TOPMed,gnomAD
rs748368295	p.Arg89His	missense variant	-	NC_000022.11:g.17497447G>A	ExAC,gnomAD
rs1313171620	p.Glu93Lys	missense variant	-	NC_000022.11:g.17497458G>A	gnomAD
NCI-TCGA novel	p.Glu94Gln	missense variant	-	NC_000022.11:g.17497461G>C	NCI-TCGA
rs1219369780	p.Lys96Arg	missense variant	-	NC_000022.11:g.17497468A>G	gnomAD
rs759290476	p.Pro97Ser	missense variant	-	NC_000022.11:g.17497470C>T	ExAC,TOPMed,gnomAD
rs765025297	p.Pro97Leu	missense variant	-	NC_000022.11:g.17497471C>T	ExAC,TOPMed,gnomAD
rs763591044	p.Arg101Lys	missense variant	-	NC_000022.11:g.17497483G>A	ExAC,gnomAD
rs921431915	p.Ala103Thr	missense variant	-	NC_000022.11:g.17497488G>A	TOPMed
rs577083118	p.Ser104Thr	missense variant	-	NC_000022.11:g.17497492G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1051316815	p.Gln106His	missense variant	-	NC_000022.11:g.17497499G>C	TOPMed
rs756812082	p.Asp107Ala	missense variant	-	NC_000022.11:g.17497501A>C	ExAC,gnomAD
rs1161976113	p.Asp107Glu	missense variant	-	NC_000022.11:g.17497502C>A	gnomAD
rs374467554	p.Leu110Val	missense variant	-	NC_000022.11:g.17497509C>G	ESP,ExAC,TOPMed
NCI-TCGA novel	p.Leu110Ile	missense variant	-	NC_000022.11:g.17497509C>A	NCI-TCGA
COSM3551963	p.Arg111Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17497512C>T	NCI-TCGA Cosmic
rs1042373950	p.Arg113Gln	missense variant	-	NC_000022.11:g.17497519G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Glu115Lys	missense variant	-	NC_000022.11:g.17497524G>A	NCI-TCGA
rs1378250296	p.His118Tyr	missense variant	-	NC_000022.11:g.17497533C>T	TOPMed,gnomAD
rs755579495	p.Arg119Gln	missense variant	-	NC_000022.11:g.17497537G>A	ExAC,gnomAD
rs1000953634	p.Arg119Ter	stop gained	-	NC_000022.11:g.17497536C>T	TOPMed
rs1284310519	p.Leu120Phe	missense variant	-	NC_000022.11:g.17497539C>T	TOPMed
rs1353807354	p.Asp128Asn	missense variant	-	NC_000022.11:g.17497563G>A	TOPMed
rs894947020	p.Val130Ala	missense variant	-	NC_000022.11:g.17497570T>C	TOPMed,gnomAD
rs774829517	p.Phe131Leu	missense variant	-	NC_000022.11:g.17497574C>A	ExAC,gnomAD
rs773244829	p.Asp132Asn	missense variant	-	NC_000022.11:g.17497575G>A	ExAC,TOPMed,gnomAD
rs1482503334	p.Leu133Ile	missense variant	-	NC_000022.11:g.17497578C>A	gnomAD
rs747245984	p.Lys135Asn	missense variant	-	NC_000022.11:g.17497586G>C	ExAC,TOPMed,gnomAD
COSM4102406	p.Asp138Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17499417A>G	NCI-TCGA Cosmic
rs1437045492	p.Asp138His	missense variant	-	NC_000022.11:g.17499416G>C	gnomAD
COSM4102409	p.Arg143Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17499431C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg143His	missense variant	-	NC_000022.11:g.17499432G>A	NCI-TCGA
rs1364787975	p.Val144Met	missense variant	-	NC_000022.11:g.17499434G>A	gnomAD
COSM1484043	p.Glu149Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17499449G>A	NCI-TCGA Cosmic
rs1197109880	p.Asp150Glu	missense variant	-	NC_000022.11:g.17499454C>A	gnomAD
NCI-TCGA novel	p.Asp150Tyr	missense variant	-	NC_000022.11:g.17499452G>T	NCI-TCGA
rs760380592	p.Asn151Ser	missense variant	-	NC_000022.11:g.17499456A>G	ExAC,TOPMed,gnomAD
COSM1031845	p.Gly153Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17499461G>T	NCI-TCGA Cosmic
COSM1647466	p.Gly153Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17499462G>T	NCI-TCGA Cosmic
rs549635868	p.Leu155Val	missense variant	-	NC_000022.11:g.17499467C>G	1000Genomes,ExAC,gnomAD
COSM256602	p.Phe159Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17499481C>A	NCI-TCGA Cosmic
rs1423142531	p.Tyr160Cys	missense variant	-	NC_000022.11:g.17499483A>G	gnomAD
NCI-TCGA novel	p.Gly161Ter	stop gained	-	NC_000022.11:g.17499485G>T	NCI-TCGA
NCI-TCGA novel	p.Arg163Gln	missense variant	-	NC_000022.11:g.17499492G>A	NCI-TCGA
NCI-TCGA novel	p.Arg163Gly	missense variant	-	NC_000022.11:g.17499491C>G	NCI-TCGA
rs759014846	p.Met164Val	missense variant	-	NC_000022.11:g.17499494A>G	ExAC,gnomAD
rs777687239	p.Glu167Lys	missense variant	-	NC_000022.11:g.17499503G>A	ExAC,gnomAD
rs751690552	p.Asp168Asn	missense variant	-	NC_000022.11:g.17499506G>A	ExAC,gnomAD
rs751690552	p.Asp168His	missense variant	-	NC_000022.11:g.17499506G>C	ExAC,gnomAD
rs367590870	p.Pro169Leu	missense variant	-	NC_000022.11:g.17499510C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly172GluPheSerTerUnk	frameshift	-	NC_000022.11:g.17499518G>-	NCI-TCGA
rs1386085964	p.Ser174Cys	missense variant	-	NC_000022.11:g.17499525C>G	TOPMed
rs746099602	p.Asn175Ser	missense variant	-	NC_000022.11:g.17499528A>G	ExAC,TOPMed,gnomAD
rs1339482385	p.Glu177Asp	missense variant	-	NC_000022.11:g.17499535A>T	TOPMed,gnomAD
rs1295515953	p.Ser179Tyr	missense variant	-	NC_000022.11:g.17499540C>A	gnomAD
rs768318389	p.Ser179Pro	missense variant	-	NC_000022.11:g.17499539T>C	ExAC,TOPMed,gnomAD
rs757267172	p.Ser184Arg	missense variant	-	NC_000022.11:g.17500637T>G	ExAC,TOPMed,gnomAD
rs767637751	p.Glu185Gly	missense variant	-	NC_000022.11:g.17500639A>G	ExAC,TOPMed,gnomAD
rs182513499	p.Gly186Arg	missense variant	-	NC_000022.11:g.17500641G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs756398277	p.Gln187Arg	missense variant	-	NC_000022.11:g.17500645A>G	ExAC,TOPMed,gnomAD
rs1159109323	p.Lys188Thr	missense variant	-	NC_000022.11:g.17500648A>C	gnomAD
NCI-TCGA novel	p.Asn189LysPheSerTerUnkUnk	frameshift	-	NC_000022.11:g.17500644_17500645insA	NCI-TCGA
rs1379225692	p.Val190Ile	missense variant	-	NC_000022.11:g.17500653G>A	TOPMed,gnomAD
rs778549084	p.Ser191Ala	missense variant	-	NC_000022.11:g.17500656T>G	ExAC,gnomAD
rs535152863	p.Ser192Gly	missense variant	-	NC_000022.11:g.17500659A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs980054014	p.Lys196Asn	missense variant	-	NC_000022.11:g.17500673A>C	TOPMed
rs199868742	p.Thr197Lys	missense variant	-	NC_000022.11:g.17500675C>A	ExAC,TOPMed,gnomAD
rs199868742	p.Thr197Met	missense variant	-	NC_000022.11:g.17500675C>T	ExAC,TOPMed,gnomAD
rs918376132	p.Arg200Lys	missense variant	-	NC_000022.11:g.17500684G>A	TOPMed
rs1448250397	p.Arg201Lys	missense variant	-	NC_000022.11:g.17500687G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Arg201Ile	missense variant	-	NC_000022.11:g.17500687G>T	NCI-TCGA
rs1358418411	p.Arg203Gly	missense variant	-	NC_000022.11:g.17500692A>G	gnomAD
rs1351658733	p.Pro205Ser	missense variant	-	NC_000022.11:g.17500698C>T	gnomAD
rs1256627770	p.Arg207Gln	missense variant	-	NC_000022.11:g.17500705G>A	TOPMed,gnomAD
rs776351510	p.Arg207Trp	missense variant	-	NC_000022.11:g.17500704C>T	ExAC,TOPMed,gnomAD
rs1253706004	p.Gln211Lys	missense variant	-	NC_000022.11:g.17500716C>A	TOPMed
rs1202136738	p.Gln211Leu	missense variant	-	NC_000022.11:g.17500717A>T	TOPMed
rs889925794	p.Lys219Arg	missense variant	-	NC_000022.11:g.17503087A>G	TOPMed,gnomAD
rs1294632473	p.Gln220Arg	missense variant	-	NC_000022.11:g.17503090A>G	gnomAD
rs766581793	p.Glu221Lys	missense variant	-	NC_000022.11:g.17503092G>A	ExAC,gnomAD
rs754013306	p.Glu222Lys	missense variant	-	NC_000022.11:g.17503095G>A	ExAC,gnomAD
rs758211976	p.Asn223Ile	missense variant	-	NC_000022.11:g.17503099A>T	ExAC
rs1008416986	p.Leu225Val	missense variant	-	NC_000022.11:g.17503104T>G	TOPMed,gnomAD
rs746939089	p.Leu225Trp	missense variant	-	NC_000022.11:g.17503105T>G	ExAC,gnomAD
rs769221545	p.Ser227Cys	missense variant	-	NC_000022.11:g.17503111C>G	ExAC,TOPMed,gnomAD
rs769221545	p.Ser227Phe	missense variant	-	NC_000022.11:g.17503111C>T	ExAC,TOPMed,gnomAD
rs780831049	p.Ser227Pro	missense variant	-	NC_000022.11:g.17503110T>C	ExAC,gnomAD
rs780831049	p.Ser227Ala	missense variant	-	NC_000022.11:g.17503110T>G	ExAC,gnomAD
rs567172261	p.Glu228Lys	missense variant	-	NC_000022.11:g.17503113G>A	ExAC,TOPMed,gnomAD
rs1477953039	p.Thr231Arg	missense variant	-	NC_000022.11:g.17503123C>G	gnomAD
rs1192402608	p.His233Tyr	missense variant	-	NC_000022.11:g.17503128C>T	gnomAD
rs762285421	p.His233Arg	missense variant	-	NC_000022.11:g.17503129A>G	ExAC,TOPMed,gnomAD
rs761636519	p.Gly234Glu	missense variant	-	NC_000022.11:g.17504847G>A	ExAC,TOPMed,gnomAD
rs761636519	p.Gly234Val	missense variant	-	NC_000022.11:g.17504847G>T	ExAC,TOPMed,gnomAD
rs1353859755	p.Ser235Pro	missense variant	-	NC_000022.11:g.17504849T>C	gnomAD
COSM1031846	p.Ser235Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17504850C>A	NCI-TCGA Cosmic
rs767271030	p.Ser235Phe	missense variant	-	NC_000022.11:g.17504850C>T	ExAC,gnomAD
rs372722720	p.Gln236Pro	missense variant	-	NC_000022.11:g.17504853A>C	ESP,ExAC,gnomAD
rs372722720	p.Gln236Arg	missense variant	-	NC_000022.11:g.17504853A>G	ESP,ExAC,gnomAD
rs1410111419	p.Gly237Glu	missense variant	-	NC_000022.11:g.17504856G>A	TOPMed
rs779589916	p.Pro238Ala	missense variant	-	NC_000022.11:g.17504858C>G	ExAC,TOPMed,gnomAD
rs754513973	p.Gln240Leu	missense variant	-	NC_000022.11:g.17504865A>T	ExAC,gnomAD
rs754513973	p.Gln240Arg	missense variant	-	NC_000022.11:g.17504865A>G	ExAC,gnomAD
rs753295694	p.Gln240Glu	missense variant	-	NC_000022.11:g.17504864C>G	ExAC,TOPMed,gnomAD
rs1181108534	p.Gly241Arg	missense variant	-	NC_000022.11:g.17504867G>C	gnomAD
NCI-TCGA novel	p.Gly241Asp	missense variant	-	NC_000022.11:g.17504868G>A	NCI-TCGA
NCI-TCGA novel	p.Thr242Ile	missense variant	-	NC_000022.11:g.17504871C>T	NCI-TCGA
rs375736912	p.Trp244Arg	missense variant	-	NC_000022.11:g.17504876T>A	ESP
rs747810331	p.Trp244Cys	missense variant	-	NC_000022.11:g.17504878G>T	ExAC,TOPMed,gnomAD
rs778468695	p.Trp244Leu	missense variant	-	NC_000022.11:g.17504877G>T	ExAC,TOPMed,gnomAD
rs747810331	p.Trp244Cys	missense variant	-	NC_000022.11:g.17504878G>C	ExAC,TOPMed,gnomAD
rs778066537	p.Leu246Val	missense variant	-	NC_000022.11:g.17504882C>G	ExAC,TOPMed,gnomAD
rs1176824530	p.Gln248Pro	missense variant	-	NC_000022.11:g.17504889A>C	TOPMed
COSM1031847	p.Thr249Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17504891A>G	NCI-TCGA Cosmic
rs368864314	p.Glu250Gln	missense variant	-	NC_000022.11:g.17504894G>C	ESP,ExAC,TOPMed,gnomAD
COSM4849912	p.Glu251Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17504897G>C	NCI-TCGA Cosmic
rs759650831	p.Glu251Lys	missense variant	-	NC_000022.11:g.17504897G>A	ExAC,gnomAD
rs1445894804	p.Glu252Asp	missense variant	-	NC_000022.11:g.17504902A>T	gnomAD
rs1017877730	p.Gln255Arg	missense variant	-	NC_000022.11:g.17504910A>G	TOPMed
rs965349400	p.Val256Ile	missense variant	-	NC_000022.11:g.17504912G>A	NCI-TCGA Cosmic
rs965349400	p.Val256Ile	missense variant	-	NC_000022.11:g.17504912G>A	TOPMed
rs377480686	p.Glu258Lys	missense variant	-	NC_000022.11:g.17504918G>A	ESP,ExAC,TOPMed,gnomAD
rs377480686	p.Glu258Lys	missense variant	-	NC_000022.11:g.17504918G>A	NCI-TCGA,NCI-TCGA Cosmic
COSM1484046	p.Ser259PhePheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.17504917_17504918CG>-	NCI-TCGA Cosmic
rs370937054	p.Ser259Asn	missense variant	-	NC_000022.11:g.17504922G>A	ESP,ExAC,TOPMed,gnomAD
rs923281762	p.Arg261Cys	missense variant	-	NC_000022.11:g.17504927C>T	TOPMed,gnomAD
rs760539949	p.Arg261His	missense variant	-	NC_000022.11:g.17504928G>A	ExAC,TOPMed,gnomAD
rs760539949	p.Arg261His	missense variant	-	NC_000022.11:g.17504928G>A	NCI-TCGA,NCI-TCGA Cosmic
rs923281762	p.Arg261Cys	missense variant	-	NC_000022.11:g.17504927C>T	NCI-TCGA Cosmic
rs753778123	p.Glu262Lys	missense variant	-	NC_000022.11:g.17504930G>A	ExAC,gnomAD
rs960200515	p.Thr264Ser	missense variant	-	NC_000022.11:g.17504936A>T	TOPMed,gnomAD
rs1401954936	p.Thr264Ile	missense variant	-	NC_000022.11:g.17504937C>T	TOPMed
rs960200515	p.Thr264Ala	missense variant	-	NC_000022.11:g.17504936A>G	TOPMed,gnomAD
COSM3551972	p.Ser265Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17504940C>T	NCI-TCGA Cosmic
rs754426948	p.Leu266Arg	missense variant	-	NC_000022.11:g.17504943T>G	ExAC,gnomAD
COSM4102415	p.Arg267Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.17504945C>T	NCI-TCGA Cosmic
rs201912432	p.Arg267Gln	missense variant	-	NC_000022.11:g.17504946G>A	ESP,ExAC,TOPMed,gnomAD
rs758026753	p.Arg269Gln	missense variant	-	NC_000022.11:g.17504952G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg269Trp	missense variant	-	NC_000022.11:g.17504951C>T	NCI-TCGA
rs778177563	p.Tyr272Ser	missense variant	-	NC_000022.11:g.17504961A>C	ExAC,gnomAD
rs778177563	p.Tyr272Cys	missense variant	-	NC_000022.11:g.17504961A>G	ExAC,gnomAD
COSM6094740	p.Leu274Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17504966C>G	NCI-TCGA Cosmic
rs1326749458	p.Leu274Pro	missense variant	-	NC_000022.11:g.17504967T>C	gnomAD
COSM4102418	p.Ser276Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17504972A>G	NCI-TCGA Cosmic
rs914379185	p.Ser276Asn	missense variant	-	NC_000022.11:g.17504973G>A	TOPMed
rs1436530113	p.Pro281Ser	missense variant	-	NC_000022.11:g.17504987C>T	gnomAD
rs1343279802	p.Cys284Tyr	missense variant	-	NC_000022.11:g.17504997G>A	gnomAD
rs1279236600	p.Met286Val	missense variant	-	NC_000022.11:g.17505002A>G	gnomAD
rs781738400	p.Ile287Met	missense variant	-	NC_000022.11:g.17505007C>G	ExAC,gnomAD
rs769986240	p.Ala288Thr	missense variant	-	NC_000022.11:g.17505008G>A	ExAC,gnomAD
rs775749314	p.Ala288Val	missense variant	-	NC_000022.11:g.17505009C>T	ExAC,gnomAD
rs749500004	p.Lys290Asn	missense variant	-	NC_000022.11:g.17505016G>C	ExAC,gnomAD
rs1186079753	p.Lys290Met	missense variant	-	NC_000022.11:g.17505015A>T	TOPMed
COSM1291205	p.Arg293Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17511819C>T	NCI-TCGA Cosmic
rs5747211	p.Arg293His	missense variant	-	NC_000022.11:g.17511820G>A	UniProt,dbSNP
VAR_027411	p.Arg293His	missense variant	-	NC_000022.11:g.17511820G>A	UniProt
rs5747211	p.Arg293His	missense variant	-	NC_000022.11:g.17511820G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM1031848	p.Pro294Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17511822C>A	NCI-TCGA Cosmic
rs759447732	p.Pro294Arg	missense variant	-	NC_000022.11:g.17511823C>G	ExAC,gnomAD
rs149739505	p.Arg296Leu	missense variant	-	NC_000022.11:g.17511829G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs149739505	p.Arg296His	missense variant	-	NC_000022.11:g.17511829G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs372166419	p.Arg296Cys	missense variant	-	NC_000022.11:g.17511828C>T	ESP,ExAC,TOPMed,gnomAD
rs372166419	p.Arg296Gly	missense variant	-	NC_000022.11:g.17511828C>G	ESP,ExAC,TOPMed,gnomAD
rs372166419	p.Arg296Cys	missense variant	-	NC_000022.11:g.17511828C>T	NCI-TCGA,NCI-TCGA Cosmic
rs940161101	p.Thr297Ser	missense variant	-	NC_000022.11:g.17511831A>T	TOPMed,gnomAD
rs972881063	p.Lys298Glu	missense variant	-	NC_000022.11:g.17511834A>G	TOPMed
rs1412834508	p.Glu300Ter	stop gained	-	NC_000022.11:g.17511840G>T	TOPMed
rs61745636	p.Leu301Val	missense variant	-	NC_000022.11:g.17511843T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1236671379	p.Leu301Trp	missense variant	-	NC_000022.11:g.17511844T>G	TOPMed
rs750763487	p.His302Asn	missense variant	-	NC_000022.11:g.17511846C>A	ExAC,gnomAD
rs374911807	p.Pro303Leu	missense variant	-	NC_000022.11:g.17511850C>T	ESP,ExAC,gnomAD
rs374911807	p.Pro303Leu	missense variant	-	NC_000022.11:g.17511850C>T	NCI-TCGA
rs1012421246	p.Met306Leu	missense variant	-	NC_000022.11:g.17511858A>T	TOPMed,gnomAD
NCI-TCGA novel	p.Ser307Cys	missense variant	-	NC_000022.11:g.17511862C>G	NCI-TCGA
COSM1647465	p.Asp308Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17511865A>G	NCI-TCGA Cosmic
rs1442772922	p.His309Tyr	missense variant	-	NC_000022.11:g.17511867C>T	gnomAD
NCI-TCGA novel	p.Lys313Asn	missense variant	-	NC_000022.11:g.17511881A>T	NCI-TCGA
rs748289376	p.Pro314Leu	missense variant	-	NC_000022.11:g.17511883C>T	ExAC,gnomAD
rs779115433	p.Pro314Ser	missense variant	-	NC_000022.11:g.17511882C>T	ExAC,gnomAD
rs777993980	p.Val315Ile	missense variant	-	NC_000022.11:g.17511885G>A	ExAC,TOPMed,gnomAD
rs745626121	p.Val315Gly	missense variant	-	NC_000022.11:g.17511886T>G	ExAC,gnomAD
rs777993980	p.Val315Ile	missense variant	-	NC_000022.11:g.17511885G>A	NCI-TCGA,NCI-TCGA Cosmic
rs372506978	p.Lys316Gln	missense variant	-	NC_000022.11:g.17511888A>C	ESP,ExAC,TOPMed,gnomAD
rs775235194	p.Lys316Thr	missense variant	-	NC_000022.11:g.17511889A>C	ExAC,gnomAD
rs1335090360	p.Glu318Lys	missense variant	-	NC_000022.11:g.17511894G>A	gnomAD
rs377543712	p.Glu319Asp	missense variant	-	NC_000022.11:g.17524120G>C	ESP,ExAC,TOPMed,gnomAD
rs771720298	p.Glu319Lys	missense variant	-	NC_000022.11:g.17524118G>A	ExAC,TOPMed,gnomAD
rs1196831983	p.Pro321Ser	missense variant	-	NC_000022.11:g.17524124C>T	gnomAD
rs1426305860	p.Thr324Ala	missense variant	-	NC_000022.11:g.17524133A>G	gnomAD
rs964732053	p.Ile326Val	missense variant	-	NC_000022.11:g.17524139A>G	TOPMed,gnomAD
rs766620277	p.Glu327Val	missense variant	-	NC_000022.11:g.17524143A>T	ExAC,TOPMed,gnomAD
rs777102530	p.Lys328Glu	missense variant	-	NC_000022.11:g.17524145A>G	ExAC,gnomAD
rs138101258	p.Arg331His	missense variant	-	NC_000022.11:g.17524155G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs138101258	p.Arg331Leu	missense variant	-	NC_000022.11:g.17524155G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs370462260	p.Arg331Cys	missense variant	-	NC_000022.11:g.17524154C>T	ESP,ExAC,TOPMed,gnomAD
rs370462260	p.Arg331Cys	missense variant	-	NC_000022.11:g.17524154C>T	NCI-TCGA,NCI-TCGA Cosmic
rs753210062	p.Lys332Glu	missense variant	-	NC_000022.11:g.17524157A>G	ExAC,gnomAD
rs758418427	p.Lys332Arg	missense variant	-	NC_000022.11:g.17524158A>G	ExAC,gnomAD
NCI-TCGA novel	p.Lys332Asn	missense variant	-	NC_000022.11:g.17524159A>C	NCI-TCGA
rs751780457	p.Glu333Asp	missense variant	-	NC_000022.11:g.17524162G>C	ExAC,TOPMed,gnomAD
rs764220976	p.Glu333Gln	missense variant	-	NC_000022.11:g.17524160G>C	ExAC,gnomAD
rs923483211	p.Glu336Gln	missense variant	-	NC_000022.11:g.17524169G>C	TOPMed,gnomAD
rs1294520932	p.Glu337Gly	missense variant	-	NC_000022.11:g.17524173A>G	gnomAD
rs1305703130	p.Arg338Cys	missense variant	-	NC_000022.11:g.17524175C>T	gnomAD
rs1246812923	p.Arg338His	missense variant	-	NC_000022.11:g.17524176G>A	gnomAD
rs1305703130	p.Arg338Cys	missense variant	-	NC_000022.11:g.17524175C>T	NCI-TCGA Cosmic
rs367584284	p.Ile340Asn	missense variant	-	NC_000022.11:g.17524182T>A	ESP,ExAC,gnomAD
COSM1200660	p.Leu341Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17524184C>A	NCI-TCGA Cosmic
rs749069125	p.Leu342Val	missense variant	-	NC_000022.11:g.17524187C>G	ExAC,TOPMed,gnomAD
rs1264839086	p.Gln345His	missense variant	-	NC_000022.11:g.17524198G>C	gnomAD
rs754730786	p.Lys347Glu	missense variant	-	NC_000022.11:g.17524202A>G	ExAC,TOPMed,gnomAD
rs1186322214	p.Glu348Lys	missense variant	-	NC_000022.11:g.17524205G>A	gnomAD
rs778851814	p.Gln349Pro	missense variant	-	NC_000022.11:g.17524209A>C	ExAC,gnomAD
rs1260016477	p.Gln349Glu	missense variant	-	NC_000022.11:g.17524208C>G	gnomAD
rs778851814	p.Gln349Arg	missense variant	-	NC_000022.11:g.17524209A>G	ExAC,gnomAD
rs748152983	p.Met352Ile	missense variant	-	NC_000022.11:g.17524219G>C	ExAC,gnomAD
rs771704119	p.Leu353Val	missense variant	-	NC_000022.11:g.17524220C>G	ExAC,TOPMed,gnomAD
rs573791910	p.Arg359His	missense variant	-	NC_000022.11:g.17524239G>A	1000Genomes,ExAC,gnomAD
rs770569105	p.Arg359Cys	missense variant	-	NC_000022.11:g.17524238C>T	ExAC,TOPMed,gnomAD
rs770569105	p.Arg359Cys	missense variant	-	NC_000022.11:g.17524238C>T	NCI-TCGA,NCI-TCGA Cosmic
rs536063005	p.Glu360Lys	missense variant	-	NC_000022.11:g.17524241G>A	ExAC,TOPMed,gnomAD
rs775966102	p.Glu360Val	missense variant	-	NC_000022.11:g.17524242A>T	ExAC,gnomAD
rs1243180877	p.Leu361Trp	missense variant	-	NC_000022.11:g.17524245T>G	gnomAD
rs1214550759	p.Val365Ala	missense variant	-	NC_000022.11:g.17524257T>C	gnomAD
NCI-TCGA novel	p.Lys366Asn	missense variant	-	NC_000022.11:g.17524261G>T	NCI-TCGA
NCI-TCGA novel	p.Ala367Gly	missense variant	-	NC_000022.11:g.17524263C>G	NCI-TCGA
rs1259414454	p.Val368Met	missense variant	-	NC_000022.11:g.17524265G>A	gnomAD
rs757310038	p.Glu369Gly	missense variant	-	NC_000022.11:g.17524269A>G	ExAC,TOPMed,gnomAD
rs374499391	p.Met371Ile	missense variant	-	NC_000022.11:g.17524276G>T	ESP,ExAC,TOPMed,gnomAD
rs374499391	p.Met371Ile	missense variant	-	NC_000022.11:g.17524276G>A	ESP,ExAC,TOPMed,gnomAD
rs750620736	p.Cys372Arg	missense variant	-	NC_000022.11:g.17524277T>C	ExAC,gnomAD
rs368613674	p.Arg375Cys	missense variant	-	NC_000022.11:g.17524286C>T	ESP,ExAC,TOPMed,gnomAD
rs73389185	p.Arg375His	missense variant	-	NC_000022.11:g.17524287G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs73389185	p.Arg375Pro	missense variant	-	NC_000022.11:g.17524287G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs73389185	p.Arg375Leu	missense variant	-	NC_000022.11:g.17524287G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs368613674	p.Arg375Gly	missense variant	-	NC_000022.11:g.17524286C>G	ESP,ExAC,TOPMed,gnomAD
rs746478829	p.Val376Met	missense variant	-	NC_000022.11:g.17524289G>A	ExAC,TOPMed,gnomAD
rs1207121066	p.Val377Ile	missense variant	-	NC_000022.11:g.17524292G>A	TOPMed
rs770353990	p.Trp378Arg	missense variant	-	NC_000022.11:g.17524295T>C	ExAC,TOPMed,gnomAD
rs375042326	p.Trp378Ter	stop gained	-	NC_000022.11:g.17524297G>A	ESP,ExAC,TOPMed,gnomAD
rs375042326	p.Trp378Cys	missense variant	-	NC_000022.11:g.17524297G>T	ESP,ExAC,TOPMed,gnomAD
rs1373424816	p.Gly380Val	missense variant	-	NC_000022.11:g.17524302G>T	gnomAD
rs1373424816	p.Gly380Asp	missense variant	-	NC_000022.11:g.17524302G>A	gnomAD
rs1222913650	p.Ala381Val	missense variant	-	NC_000022.11:g.17524305C>T	gnomAD
rs770194958	p.Cys382Tyr	missense variant	-	NC_000022.11:g.17524308G>A	ExAC,TOPMed,gnomAD
rs368031555	p.Cys382Arg	missense variant	-	NC_000022.11:g.17524307T>C	ESP,ExAC,gnomAD
rs1173667163	p.Ser384Leu	missense variant	-	NC_000022.11:g.17524314C>T	TOPMed,gnomAD
rs778972186	p.Thr385Ile	missense variant	-	NC_000022.11:g.17524317C>T	ExAC,gnomAD
rs996241613	p.Ser386Gly	missense variant	-	NC_000022.11:g.17524319A>G	gnomAD
rs767550931	p.Arg387His	missense variant	-	NC_000022.11:g.17524323G>A	ExAC,TOPMed,gnomAD
rs375892327	p.Arg387Cys	missense variant	-	NC_000022.11:g.17524322C>T	ESP,ExAC,TOPMed,gnomAD
rs375892327	p.Arg387Gly	missense variant	-	NC_000022.11:g.17524322C>G	ESP,ExAC,TOPMed,gnomAD
rs368913946	p.Pro388Thr	missense variant	-	NC_000022.11:g.17524325C>A	ESP,gnomAD
rs760846394	p.Pro388Leu	missense variant	-	NC_000022.11:g.17524326C>T	ExAC,gnomAD
rs1205934176	p.Asp390Glu	missense variant	-	NC_000022.11:g.17537104T>G	gnomAD
COSM1031849	p.Arg391Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.17537105C>T	NCI-TCGA Cosmic
rs755330116	p.Arg391Pro	missense variant	-	NC_000022.11:g.17537106G>C	ExAC,gnomAD
rs755330116	p.Arg391Gln	missense variant	-	NC_000022.11:g.17537106G>A	ExAC,gnomAD
rs748666454	p.Ala392Gly	missense variant	-	NC_000022.11:g.17537109C>G	ExAC,TOPMed,gnomAD
rs748666454	p.Ala392Val	missense variant	-	NC_000022.11:g.17537109C>T	ExAC,TOPMed,gnomAD
rs1213605092	p.Ala392Thr	missense variant	-	NC_000022.11:g.17537108G>A	gnomAD
rs1307309795	p.Arg395Thr	missense variant	-	NC_000022.11:g.17537118G>C	TOPMed
rs369723376	p.Lys396Arg	missense variant	-	NC_000022.11:g.17537121A>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys396Met	missense variant	-	NC_000022.11:g.17537121A>T	NCI-TCGA
COSM1327343	p.Ala402Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17537139C>T	NCI-TCGA Cosmic
rs759906727	p.Ala402Thr	missense variant	-	NC_000022.11:g.17537138G>A	ExAC,TOPMed,gnomAD
rs759906727	p.Ala402Ser	missense variant	-	NC_000022.11:g.17537138G>T	ExAC,TOPMed,gnomAD
rs377610344	p.Trp403Arg	missense variant	-	NC_000022.11:g.17537141T>C	ESP,ExAC,gnomAD
rs1413497823	p.Trp403Cys	missense variant	-	NC_000022.11:g.17537143G>C	TOPMed
rs1425420334	p.Leu404Met	missense variant	-	NC_000022.11:g.17537144C>A	TOPMed
rs868448604	p.Gly408Glu	missense variant	-	NC_000022.11:g.17537157G>A	-
rs868448604	p.Gly408Glu	missense variant	-	NC_000022.11:g.17537157G>A	NCI-TCGA
rs1452480243	p.Glu414Gly	missense variant	-	NC_000022.11:g.17537175A>G	gnomAD
rs1379185960	p.Ser416Tyr	missense variant	-	NC_000022.11:g.17537181C>A	gnomAD
rs767287382	p.Ser416Pro	missense variant	-	NC_000022.11:g.17537180T>C	ExAC,gnomAD
rs765937949	p.Leu418Pro	missense variant	-	NC_000022.11:g.17537187T>C	ExAC,gnomAD
rs754672917	p.Asn421Ser	missense variant	-	NC_000022.11:g.17537196A>G	ExAC,TOPMed,gnomAD
rs1250310966	p.Asn421Asp	missense variant	-	NC_000022.11:g.17537195A>G	TOPMed
rs1250310966	p.Asn421Asp	missense variant	-	NC_000022.11:g.17537195A>G	NCI-TCGA Cosmic
rs1461715815	p.Ser422Ala	missense variant	-	NC_000022.11:g.17537198T>G	gnomAD
rs1234614971	p.Pro423Leu	missense variant	-	NC_000022.11:g.17537202C>T	TOPMed
rs1483425368	p.Pro423Ala	missense variant	-	NC_000022.11:g.17537201C>G	TOPMed
NCI-TCGA novel	p.Pro423Ser	missense variant	-	NC_000022.11:g.17537201C>T	NCI-TCGA
rs748420479	p.Met424Leu	missense variant	-	NC_000022.11:g.17537204A>C	ExAC,gnomAD
rs1439022266	p.Met424Ile	missense variant	-	NC_000022.11:g.17537206G>A	gnomAD
rs1240790758	p.Met424Lys	missense variant	-	NC_000022.11:g.17537205T>A	gnomAD
rs1182131223	p.Arg425Lys	missense variant	-	NC_000022.11:g.17537208G>A	TOPMed,gnomAD
rs1362897635	p.Glu426Lys	missense variant	-	NC_000022.11:g.17537210G>A	gnomAD
rs758794753	p.Glu427Gly	missense variant	-	NC_000022.11:g.17537214A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu427Lys	missense variant	-	NC_000022.11:g.17537213G>A	NCI-TCGA
rs778084870	p.Lys429Arg	missense variant	-	NC_000022.11:g.17537220A>G	ExAC,gnomAD
COSM1733530	p.Lys429ArgPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.17537214A>-	NCI-TCGA Cosmic
rs778084870	p.Lys429Arg	missense variant	-	NC_000022.11:g.17537220A>G	NCI-TCGA,NCI-TCGA Cosmic
rs1469787166	p.Thr430Ser	missense variant	-	NC_000022.11:g.17537223C>G	gnomAD
NCI-TCGA novel	p.Thr430Ser	missense variant	-	NC_000022.11:g.17537222A>T	NCI-TCGA
rs747578630	p.Leu433Phe	missense variant	-	NC_000022.11:g.17537231C>T	ExAC
rs758678613	p.Glu435Val	missense variant	-	NC_000022.11:g.17538525A>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu435Asp	missense variant	-	NC_000022.11:g.17538526G>T	NCI-TCGA
rs778269475	p.Asp438Gly	missense variant	-	NC_000022.11:g.17538534A>G	ExAC,gnomAD
rs778269475	p.Asp438Ala	missense variant	-	NC_000022.11:g.17538534A>C	ExAC,gnomAD
rs752084298	p.Asp439His	missense variant	-	NC_000022.11:g.17538536G>C	ExAC,gnomAD
rs567987744	p.Thr441Ala	missense variant	-	NC_000022.11:g.17538542A>G	ExAC,TOPMed,gnomAD
rs745907542	p.Ala442Ser	missense variant	-	NC_000022.11:g.17538545G>T	ExAC,gnomAD
rs1407056543	p.Met443Ile	missense variant	-	NC_000022.11:g.17538550G>A	gnomAD
rs1407056543	p.Met443Ile	missense variant	-	NC_000022.11:g.17538550G>A	NCI-TCGA
rs1198514409	p.Tyr444Cys	missense variant	-	NC_000022.11:g.17538552A>G	TOPMed
rs751021833	p.Val449Met	missense variant	-	NC_000022.11:g.17538648G>A	ExAC,gnomAD
rs756140915	p.Val449Ala	missense variant	-	NC_000022.11:g.17538649T>C	ExAC,gnomAD
rs749447312	p.Val450Leu	missense variant	-	NC_000022.11:g.17538651G>T	ExAC,TOPMed,gnomAD
rs749447312	p.Val450Ile	missense variant	-	NC_000022.11:g.17538651G>A	ExAC,TOPMed,gnomAD
rs749447312	p.Val450Ile	missense variant	-	NC_000022.11:g.17538651G>A	NCI-TCGA,NCI-TCGA Cosmic
rs1315065505	p.Lys451Asn	missense variant	-	NC_000022.11:g.17538656G>C	gnomAD
rs1458493953	p.Ala452Pro	missense variant	-	NC_000022.11:g.17538657G>C	gnomAD
rs1165122149	p.Ala452Val	missense variant	-	NC_000022.11:g.17538658C>T	gnomAD
rs779135758	p.Pro462Ala	missense variant	-	NC_000022.11:g.17538687C>G	ExAC,gnomAD
rs951271508	p.Asp464Asn	missense variant	-	NC_000022.11:g.17538693G>A	TOPMed
NCI-TCGA novel	p.Glu465Lys	missense variant	-	NC_000022.11:g.17538696G>A	NCI-TCGA
NCI-TCGA novel	p.Ala468Val	missense variant	-	NC_000022.11:g.17538706C>T	NCI-TCGA
rs984079763	p.Asn470Ser	missense variant	-	NC_000022.11:g.17538712A>G	TOPMed
rs192647734	p.Asn470Lys	missense variant	-	NC_000022.11:g.17538713C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1384616850	p.Gln473His	missense variant	-	NC_000022.11:g.17538722G>T	gnomAD
rs1443085744	p.Ile474Met	missense variant	-	NC_000022.11:g.17538725T>G	gnomAD
NCI-TCGA novel	p.Ile475Val	missense variant	-	NC_000022.11:g.17538726A>G	NCI-TCGA
rs1299339757	p.Met479Ile	missense variant	-	NC_000022.11:g.17539001G>A	gnomAD
rs781006457	p.Met479Val	missense variant	-	NC_000022.11:g.17538999A>G	ExAC,TOPMed,gnomAD
rs1246509787	p.Ser483Gly	missense variant	-	NC_000022.11:g.17539011A>G	TOPMed,gnomAD
rs933732047	p.Met484Val	missense variant	-	NC_000022.11:g.17539014A>G	TOPMed
rs745773635	p.Lys487Glu	missense variant	-	NC_000022.11:g.17539023A>G	ExAC,gnomAD
rs769725088	p.Asn489Ser	missense variant	-	NC_000022.11:g.17539030A>G	ExAC,TOPMed,gnomAD
rs768298929	p.Gly491Val	missense variant	-	NC_000022.11:g.17539036G>T	ExAC,TOPMed,gnomAD
rs748769002	p.Gly491Ser	missense variant	-	NC_000022.11:g.17539035G>A	ExAC,TOPMed,gnomAD
rs768298929	p.Gly491Asp	missense variant	-	NC_000022.11:g.17539036G>A	ExAC,TOPMed,gnomAD
rs774139283	p.Tyr493Cys	missense variant	-	NC_000022.11:g.17539042A>G	ExAC,gnomAD
rs1206729717	p.Cys494Tyr	missense variant	-	NC_000022.11:g.17539045G>A	TOPMed,gnomAD
rs1233460933	p.Thr495Ala	missense variant	-	NC_000022.11:g.17539047A>G	gnomAD
rs1480467022	p.Phe499Leu	missense variant	-	NC_000022.11:g.17539059T>C	gnomAD
rs1480467022	p.Phe499Ile	missense variant	-	NC_000022.11:g.17539059T>A	gnomAD
rs1180269671	p.Val500Ile	missense variant	-	NC_000022.11:g.17539062G>A	gnomAD
rs1453580947	p.Asp502Asn	missense variant	-	NC_000022.11:g.17539068G>A	TOPMed
rs1481277764	p.Met503Ile	missense variant	-	NC_000022.11:g.17539073G>A	gnomAD
rs1249409874	p.Met503Val	missense variant	-	NC_000022.11:g.17539071A>G	gnomAD
rs371376833	p.Thr505Ile	missense variant	-	NC_000022.11:g.17539078C>T	ESP,ExAC,TOPMed,gnomAD
rs1271121594	p.Thr505Ser	missense variant	-	NC_000022.11:g.17539077A>T	TOPMed
rs371376833	p.Thr505Ser	missense variant	-	NC_000022.11:g.17539078C>G	ESP,ExAC,TOPMed,gnomAD
rs1428545031	p.Met506Ile	missense variant	-	NC_000022.11:g.17539082G>T	gnomAD
NCI-TCGA novel	p.Arg508Gly	missense variant	-	NC_000022.11:g.17539086A>G	NCI-TCGA
rs773574847	p.Arg511Gln	missense variant	-	NC_000022.11:g.17539096G>A	ExAC,TOPMed,gnomAD
rs1339788253	p.Arg511Ter	stop gained	-	NC_000022.11:g.17539095C>T	TOPMed
NCI-TCGA novel	p.Asn514Lys	missense variant	-	NC_000022.11:g.17539106T>A	NCI-TCGA
rs369929274	p.Ser517Asn	missense variant	-	NC_000022.11:g.17539114G>A	ESP,ExAC,TOPMed,gnomAD
rs1461226139	p.Ser518Asn	missense variant	-	NC_000022.11:g.17539117G>A	TOPMed,gnomAD
rs1474378338	p.Tyr520Cys	missense variant	-	NC_000022.11:g.17540415A>G	TOPMed
rs146626965	p.Thr521Ser	missense variant	-	NC_000022.11:g.17540417A>T	1000Genomes,ExAC,gnomAD
rs761052719	p.Lys522Gln	missense variant	-	NC_000022.11:g.17540420A>C	ExAC,gnomAD
rs1317166259	p.Asp525Asn	missense variant	-	NC_000022.11:g.17540429G>A	gnomAD
rs1489095977	p.Asn526His	missense variant	-	NC_000022.11:g.17540432A>C	TOPMed
rs1360452688	p.Arg529Lys	missense variant	-	NC_000022.11:g.17540442G>A	gnomAD
rs767167862	p.Cys530Arg	missense variant	-	NC_000022.11:g.17540444T>C	ExAC,TOPMed,gnomAD
rs767167862	p.Cys530Gly	missense variant	-	NC_000022.11:g.17540444T>G	ExAC,TOPMed,gnomAD
rs765286729	p.His532Arg	missense variant	-	NC_000022.11:g.17540451A>G	ExAC,gnomAD
rs765286729	p.His532Leu	missense variant	-	NC_000022.11:g.17540451A>T	ExAC,gnomAD
rs763022716	p.Arg533Trp	missense variant	-	NC_000022.11:g.17540453C>T	ExAC,gnomAD
rs763022716	p.Arg533Trp	missense variant	-	NC_000022.11:g.17540453C>T	NCI-TCGA
NCI-TCGA novel	p.Arg533Gln	missense variant	-	NC_000022.11:g.17540454G>A	NCI-TCGA
rs764334368	p.Met535Val	missense variant	-	NC_000022.11:g.17540459A>G	ExAC,gnomAD
rs752204763	p.Met536Lys	missense variant	-	NC_000022.11:g.17540463T>A	ExAC,gnomAD
rs1024456558	p.Met536Ile	missense variant	-	NC_000022.11:g.17540464G>T	TOPMed
NCI-TCGA novel	p.Lys537Glu	missense variant	-	NC_000022.11:g.17540465A>G	NCI-TCGA
rs1186141958	p.Phe539Leu	missense variant	-	NC_000022.11:g.17540471T>C	gnomAD
rs1386547944	p.Pro540His	missense variant	-	NC_000022.11:g.17540475C>A	gnomAD
rs1162249629	p.Glu542Asp	missense variant	-	NC_000022.11:g.17540482A>T	gnomAD
rs1444937391	p.Glu542Lys	missense variant	-	NC_000022.11:g.17540480G>A	gnomAD
NCI-TCGA novel	p.Asp543His	missense variant	-	NC_000022.11:g.17540483G>C	NCI-TCGA
NCI-TCGA novel	p.Thr546Ala	missense variant	-	NC_000022.11:g.17540492A>G	NCI-TCGA
rs755911186	p.Phe550Ser	missense variant	-	NC_000022.11:g.17540505T>C	ExAC,gnomAD
COSM4823743	p.Trp551Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.17540509G>A	NCI-TCGA Cosmic
rs971999536	p.Trp551Cys	missense variant	-	NC_000022.11:g.17540509G>C	TOPMed
COSM1592838	p.Arg553Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.17540513C>T	NCI-TCGA Cosmic
rs1319345987	p.Arg553Gln	missense variant	-	NC_000022.11:g.17540514G>A	TOPMed,gnomAD
rs779784806	p.Asp555Glu	missense variant	-	NC_000022.11:g.17540521T>G	ExAC,gnomAD
rs1171304462	p.Glu556Asp	missense variant	-	NC_000022.11:g.17540524A>T	gnomAD
rs982960939	p.Arg558Trp	missense variant	-	NC_000022.11:g.17540528C>T	NCI-TCGA
rs753803451	p.Arg558Gln	missense variant	-	NC_000022.11:g.17540529G>A	ExAC,TOPMed,gnomAD
rs982960939	p.Arg558Trp	missense variant	-	NC_000022.11:g.17540528C>T	TOPMed
rs1338847306	p.Arg561Lys	missense variant	-	NC_000022.11:g.17540538G>A	gnomAD
NCI-TCGA novel	p.Arg561Ile	missense variant	-	NC_000022.11:g.17540538G>T	NCI-TCGA
rs1245571259	p.Arg562Gln	missense variant	-	NC_000022.11:g.17540541G>A	TOPMed,gnomAD
rs768986689	p.Arg562Trp	missense variant	-	NC_000022.11:g.17540540C>T	gnomAD
rs768986689	p.Arg562Trp	missense variant	-	NC_000022.11:g.17540540C>T	NCI-TCGA,NCI-TCGA Cosmic
rs1015830181	p.Arg564Trp	missense variant	-	NC_000022.11:g.17540546C>T	TOPMed,gnomAD
rs754907211	p.Arg564Gln	missense variant	-	NC_000022.11:g.17540547G>A	ExAC,gnomAD
rs754907211	p.Arg564Leu	missense variant	-	NC_000022.11:g.17540547G>T	ExAC,gnomAD
rs1015830181	p.Arg564Trp	missense variant	-	NC_000022.11:g.17540546C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala565Thr	missense variant	-	NC_000022.11:g.17540549G>A	NCI-TCGA
NCI-TCGA novel	p.Arg567Gln	missense variant	-	NC_000022.11:g.17540556G>A	NCI-TCGA
NCI-TCGA novel	p.Arg567Ter	stop gained	-	NC_000022.11:g.17540555C>T	NCI-TCGA
rs779001484	p.Ser568Arg	missense variant	-	NC_000022.11:g.17540558A>C	ExAC,gnomAD
rs1166610753	p.Ser571Thr	missense variant	-	NC_000022.11:g.17540568G>C	TOPMed
NCI-TCGA novel	p.Trp574LeuPheSerTerUnkUnkUnk	frameshift	-	NC_000022.11:g.17540574_17540575insG	NCI-TCGA
rs777460800	p.Thr575Ser	missense variant	-	NC_000022.11:g.17540580C>G	ExAC,TOPMed,gnomAD
rs777460800	p.Thr575Ile	missense variant	-	NC_000022.11:g.17540580C>T	ExAC,TOPMed,gnomAD
rs921298824	p.Arg576His	missense variant	-	NC_000022.11:g.17540583G>A	TOPMed,gnomAD
rs755804225	p.Arg576Cys	missense variant	-	NC_000022.11:g.17540582C>T	gnomAD
rs1366385826	p.Ser577Phe	missense variant	-	NC_000022.11:g.17540586C>T	gnomAD
rs1190219428	p.Asp579Tyr	missense variant	-	NC_000022.11:g.17540591G>T	TOPMed
rs1159521491	p.Gly582Val	missense variant	-	NC_000022.11:g.17540601G>T	TOPMed,gnomAD
rs1470921145	p.Gly582Trp	missense variant	-	NC_000022.11:g.17540600G>T	TOPMed,gnomAD
rs1456176142	p.Ser584Ile	missense variant	-	NC_000022.11:g.17540607G>T	gnomAD
rs1406980432	p.Gln587His	missense variant	-	NC_000022.11:g.17540617G>C	TOPMed,gnomAD
rs1179166786	p.Gln587Arg	missense variant	-	NC_000022.11:g.17540616A>G	gnomAD
rs1395543657	p.Gln588Pro	missense variant	-	NC_000022.11:g.17540619A>C	TOPMed,gnomAD
rs1397472752	p.Pro589Leu	missense variant	-	NC_000022.11:g.17540622C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Pro589His	missense variant	-	NC_000022.11:g.17540622C>A	NCI-TCGA
rs771321397	p.Met590Leu	missense variant	-	NC_000022.11:g.17540624A>T	ExAC,gnomAD
rs771321397	p.Met590Val	missense variant	-	NC_000022.11:g.17540624A>G	ExAC,gnomAD
rs759905602	p.Glu591Val	missense variant	-	NC_000022.11:g.17540628A>T	ExAC,gnomAD
rs770216722	p.Asn592Lys	missense variant	-	NC_000022.11:g.17540632T>G	ExAC,TOPMed,gnomAD
rs770216722	p.Asn592Lys	missense variant	-	NC_000022.11:g.17540632T>A	ExAC,TOPMed,gnomAD
rs1299256152	p.Gly593Val	missense variant	-	NC_000022.11:g.17540634G>T	TOPMed
rs776005235	p.Gly594Arg	missense variant	-	NC_000022.11:g.17540636G>A	ExAC,gnomAD
rs777261624	p.Ser596Leu	missense variant	-	NC_000022.11:g.17540643C>T	gnomAD
rs777261624	p.Ser596Leu	missense variant	-	NC_000022.11:g.17540643C>T	NCI-TCGA,NCI-TCGA Cosmic
rs751805976	p.Leu597Phe	missense variant	-	NC_000022.11:g.17540647G>T	ExAC,gnomAD
rs1354271173	p.Pro598Leu	missense variant	-	NC_000022.11:g.17540649C>T	gnomAD
NCI-TCGA novel	p.Thr600HisPheSerTerUnkUnk	frameshift	-	NC_000022.11:g.17540648C>-	NCI-TCGA
rs565809706	p.Arg601His	missense variant	-	NC_000022.11:g.17540658G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs767796133	p.Arg601Cys	missense variant	-	NC_000022.11:g.17540657C>T	ExAC,TOPMed,gnomAD
rs767796133	p.Arg601Gly	missense variant	-	NC_000022.11:g.17540657C>G	ExAC,TOPMed,gnomAD
rs767796133	p.Arg601Ser	missense variant	-	NC_000022.11:g.17540657C>A	ExAC,TOPMed,gnomAD
rs767796133	p.Arg601Cys	missense variant	-	NC_000022.11:g.17540657C>T	NCI-TCGA
rs200414904	p.Arg602Gln	missense variant	-	NC_000022.11:g.17540661G>A	ESP,ExAC,TOPMed,gnomAD
rs1471800729	p.Pro604Leu	missense variant	-	NC_000022.11:g.17540667C>T	TOPMed,gnomAD
rs1471800729	p.Pro604Arg	missense variant	-	NC_000022.11:g.17540667C>G	TOPMed,gnomAD
rs1471800729	p.Pro604Leu	missense variant	-	NC_000022.11:g.17540667C>T	NCI-TCGA Cosmic
rs1375473684	p.Ser605Phe	missense variant	-	NC_000022.11:g.17540670C>T	TOPMed
rs746659459	p.Asp608Gly	missense variant	-	NC_000022.11:g.17540679A>G	ExAC,TOPMed,gnomAD
rs770431570	p.Asp608Glu	missense variant	-	NC_000022.11:g.17540680C>G	ExAC,TOPMed,gnomAD
rs141453031	p.Asp609Tyr	missense variant	-	NC_000022.11:g.17540681G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs141453031	p.Asp609Asn	missense variant	-	NC_000022.11:g.17540681G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs141453031	p.Asp609Asn	missense variant	-	NC_000022.11:g.17540681G>A	NCI-TCGA,NCI-TCGA Cosmic
rs1410783821	p.Ser611Asn	missense variant	-	NC_000022.11:g.17540688G>A	gnomAD
rs184360323	p.Ser613Gly	missense variant	-	NC_000022.11:g.17540693A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1320585056	p.Ser613Ile	missense variant	-	NC_000022.11:g.17540694G>T	TOPMed
rs184360323	p.Ser613Cys	missense variant	-	NC_000022.11:g.17540693A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs775950079	p.Gln616Glu	missense variant	-	NC_000022.11:g.17540702C>G	ExAC,TOPMed,gnomAD
COSM3551983	p.Pro617Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17540706C>T	NCI-TCGA Cosmic
rs1346085214	p.Pro617His	missense variant	-	NC_000022.11:g.17540706C>A	TOPMed,gnomAD
rs894825263	p.Pro618Leu	missense variant	-	NC_000022.11:g.17540709C>T	TOPMed
rs376281162	p.Pro618Ser	missense variant	-	NC_000022.11:g.17540708C>T	ESP,ExAC,TOPMed,gnomAD
rs774240844	p.Arg619Trp	missense variant	-	NC_000022.11:g.17540711C>T	ExAC,gnomAD
rs761960139	p.Arg619Gln	missense variant	-	NC_000022.11:g.17540712G>A	NCI-TCGA,NCI-TCGA Cosmic
rs761960139	p.Arg619Gln	missense variant	-	NC_000022.11:g.17540712G>A	ExAC,TOPMed,gnomAD
COSM1647463	p.Glu620Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17540714G>A	NCI-TCGA Cosmic
rs767596260	p.Glu620Val	missense variant	-	NC_000022.11:g.17540715A>T	ExAC,gnomAD
rs759383073	p.Val621Ala	missense variant	-	NC_000022.11:g.17540718T>C	ExAC,gnomAD
rs571431405	p.Val621Leu	missense variant	-	NC_000022.11:g.17540717G>T	1000Genomes,ExAC,gnomAD
rs758325027	p.Gly622Asp	missense variant	-	NC_000022.11:g.17540721G>A	ExAC,gnomAD
rs752677007	p.Gly622Ser	missense variant	-	NC_000022.11:g.17540720G>A	ExAC,TOPMed,gnomAD
rs764104545	p.Ser624Cys	missense variant	-	NC_000022.11:g.17540727C>G	ExAC,TOPMed,gnomAD
rs764104545	p.Ser624Tyr	missense variant	-	NC_000022.11:g.17540727C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser624Phe	missense variant	-	NC_000022.11:g.17540727C>T	NCI-TCGA
rs370750159	p.Asn625Ser	missense variant	-	NC_000022.11:g.17540730A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs756820244	p.Asn625Asp	missense variant	-	NC_000022.11:g.17540729A>G	ExAC,gnomAD
rs1466047827	p.Gly626Ala	missense variant	-	NC_000022.11:g.17540733G>C	TOPMed
rs745565052	p.Arg627Gln	missense variant	-	NC_000022.11:g.17540736G>A	ExAC,TOPMed,gnomAD
rs1304791646	p.Arg627Gly	missense variant	-	NC_000022.11:g.17540735C>G	gnomAD
rs1304791646	p.Arg627Gly	missense variant	-	NC_000022.11:g.17540735C>G	NCI-TCGA
rs756435741	p.Gly628Val	missense variant	-	NC_000022.11:g.17540739G>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe629Val	missense variant	-	NC_000022.11:g.17540741T>G	NCI-TCGA
rs556884942	p.Ser630Phe	missense variant	-	NC_000022.11:g.17540745C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs556884942	p.Ser630Phe	missense variant	-	NC_000022.11:g.17540745C>T	NCI-TCGA
rs1328077100	p.Pro632Leu	missense variant	-	NC_000022.11:g.17540751C>T	gnomAD
rs1485404259	p.Pro632Thr	missense variant	-	NC_000022.11:g.17540750C>A	gnomAD
rs374940850	p.His634Arg	missense variant	-	NC_000022.11:g.17540757A>G	ESP,gnomAD
rs1179649142	p.Cys635Tyr	missense variant	-	NC_000022.11:g.17540760G>A	TOPMed
rs749669473	p.Gly636Asp	missense variant	-	NC_000022.11:g.17540763G>A	ExAC,gnomAD
COSM1616217	p.Thr638Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17540768A>G	NCI-TCGA Cosmic
rs1224251690	p.Thr638Ile	missense variant	-	NC_000022.11:g.17540769C>T	gnomAD
rs1293011876	p.Pro639Arg	missense variant	-	NC_000022.11:g.17540772C>G	TOPMed,gnomAD
rs748130070	p.Ser640Arg	missense variant	-	NC_000022.11:g.17540776C>G	ExAC,gnomAD
rs368057111	p.Ser640Ile	missense variant	-	NC_000022.11:g.17540775G>T	ESP,ExAC,gnomAD
rs1448014278	p.Gln641His	missense variant	-	NC_000022.11:g.17540779G>T	gnomAD
rs772245062	p.Gln641Arg	missense variant	-	NC_000022.11:g.17540778A>G	ExAC,gnomAD
rs1188021622	p.Ala642Ser	missense variant	-	NC_000022.11:g.17540780G>T	gnomAD
NCI-TCGA novel	p.Pro643Thr	missense variant	-	NC_000022.11:g.17540783C>A	NCI-TCGA
NCI-TCGA novel	p.Pro643His	missense variant	-	NC_000022.11:g.17540784C>A	NCI-TCGA
rs1483595562	p.Gln647Glu	missense variant	-	NC_000022.11:g.17540795C>G	TOPMed
rs573687701	p.Gln647Arg	missense variant	-	NC_000022.11:g.17540796A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1409670784	p.Pro653Leu	missense variant	-	NC_000022.11:g.17541852C>T	gnomAD
rs1409670784	p.Pro653Leu	missense variant	-	NC_000022.11:g.17541852C>T	NCI-TCGA Cosmic
rs1176229199	p.Phe656Leu	missense variant	-	NC_000022.11:g.17541860T>C	gnomAD
rs774120301	p.Phe656Leu	missense variant	-	NC_000022.11:g.17541862T>G	ExAC,gnomAD
rs377207620	p.Phe656Ser	missense variant	-	NC_000022.11:g.17541861T>C	ESP,ExAC,gnomAD
rs1398987540	p.Pro658Ala	missense variant	-	NC_000022.11:g.17541866C>G	TOPMed
rs1398987540	p.Pro658Ser	missense variant	-	NC_000022.11:g.17541866C>T	TOPMed
rs767459756	p.Leu659Pro	missense variant	-	NC_000022.11:g.17541870T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu659Met	missense variant	-	NC_000022.11:g.17541869C>A	NCI-TCGA
rs371979990	p.Arg660Gln	missense variant	-	NC_000022.11:g.17541873G>A	ESP,ExAC,TOPMed,gnomAD
rs371979990	p.Arg660Gln	missense variant	-	NC_000022.11:g.17541873G>A	NCI-TCGA
rs1367174836	p.Gly661Arg	missense variant	-	NC_000022.11:g.17541875G>A	TOPMed
rs1347948871	p.Asp663Glu	missense variant	-	NC_000022.11:g.17541883T>G	gnomAD
rs760212176	p.Pro664Ala	missense variant	-	NC_000022.11:g.17541884C>G	ExAC,gnomAD
rs376303986	p.Ala665Thr	missense variant	-	NC_000022.11:g.17541887G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala665Val	missense variant	-	NC_000022.11:g.17541888C>T	NCI-TCGA
NCI-TCGA novel	p.Ala665Pro	missense variant	-	NC_000022.11:g.17541887G>C	NCI-TCGA
rs1310499911	p.Thr666Ser	missense variant	-	NC_000022.11:g.17541890A>T	gnomAD
rs1475550938	p.Leu667Phe	missense variant	-	NC_000022.11:g.17541895G>T	TOPMed
rs1299542119	p.Tyr668Phe	missense variant	-	NC_000022.11:g.17541897A>T	gnomAD
rs755269189	p.Gly669Arg	missense variant	-	NC_000022.11:g.17541899G>C	ExAC,gnomAD
rs779400927	p.Ser670Phe	missense variant	-	NC_000022.11:g.17541903C>T	ExAC
rs1204197550	p.Ser671Tyr	missense variant	-	NC_000022.11:g.17541906C>A	gnomAD
COSM3551985	p.Pro674Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17541914C>T	NCI-TCGA Cosmic
rs1296794	p.Pro674Arg	missense variant	-	NC_000022.11:g.17541915C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1296794	p.Pro674Leu	missense variant	-	NC_000022.11:g.17541915C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1296794	p.Pro674Leu	missense variant	-	NC_000022.11:g.17541915C>T	UniProt,dbSNP
VAR_027412	p.Pro674Leu	missense variant	-	NC_000022.11:g.17541915C>T	UniProt
rs1191672133	p.Glu675Lys	missense variant	-	NC_000022.11:g.17541917G>A	gnomAD
NCI-TCGA novel	p.Glu675Ter	stop gained	-	NC_000022.11:g.17541917G>T	NCI-TCGA
rs771156133	p.His677Gln	missense variant	-	NC_000022.11:g.17541925C>A	ExAC,TOPMed,gnomAD
rs1430973376	p.His677Tyr	missense variant	-	NC_000022.11:g.17541923C>T	gnomAD
rs1370788467	p.Pro678Leu	missense variant	-	NC_000022.11:g.17541927C>T	gnomAD
rs572732838	p.Gly679Arg	missense variant	-	NC_000022.11:g.17541929G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs572732838	p.Gly679Trp	missense variant	-	NC_000022.11:g.17541929G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs572732838	p.Gly679Arg	missense variant	-	NC_000022.11:g.17541929G>A	NCI-TCGA
rs1367817961	p.Glu680Lys	missense variant	-	NC_000022.11:g.17541932G>A	TOPMed,gnomAD
rs1366065586	p.Val682Leu	missense variant	-	NC_000022.11:g.17541938G>T	TOPMed,gnomAD
rs1366065586	p.Val682Met	missense variant	-	NC_000022.11:g.17541938G>A	TOPMed,gnomAD
rs1298350373	p.Gln683Lys	missense variant	-	NC_000022.11:g.17541941C>A	gnomAD
rs144027854	p.Arg685His	missense variant	-	NC_000022.11:g.17541948G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs144027854	p.Arg685Leu	missense variant	-	NC_000022.11:g.17541948G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs144027854	p.Arg685Pro	missense variant	-	NC_000022.11:g.17541948G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1226457825	p.Arg685Cys	missense variant	-	NC_000022.11:g.17541947C>T	gnomAD
rs1226457825	p.Arg685Cys	missense variant	-	NC_000022.11:g.17541947C>T	NCI-TCGA
rs1319406461	p.Gln686Arg	missense variant	-	NC_000022.11:g.17541951A>G	TOPMed
rs760159046	p.Thr689Ala	missense variant	-	NC_000022.11:g.17541959A>G	ExAC,TOPMed,gnomAD
rs1221966970	p.Met690Val	missense variant	-	NC_000022.11:g.17541962A>G	gnomAD
rs1221966970	p.Met690Leu	missense variant	-	NC_000022.11:g.17541962A>C	gnomAD
rs773104468	p.Pro693Leu	missense variant	-	NC_000022.11:g.17542161C>T	ExAC,gnomAD
rs1238851558	p.Pro693Ser	missense variant	-	NC_000022.11:g.17542160C>T	gnomAD
rs1163098601	p.Val694Gly	missense variant	-	NC_000022.11:g.17542164T>G	gnomAD
rs1459322621	p.Gly695Glu	missense variant	-	NC_000022.11:g.17542167G>A	gnomAD
rs935566022	p.Asn697Ser	missense variant	-	NC_000022.11:g.17542173A>G	TOPMed
rs770335358	p.Ser698Arg	missense variant	-	NC_000022.11:g.17542175A>C	ExAC,TOPMed,gnomAD
rs1338704895	p.Arg700Ter	stop gained	-	NC_000022.11:g.17542181C>T	gnomAD
rs374288835	p.Arg700Gln	missense variant	-	NC_000022.11:g.17542182G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1447550873	p.Gly701Arg	missense variant	-	NC_000022.11:g.17542184G>A	gnomAD
rs200166225	p.Pro702Thr	missense variant	-	NC_000022.11:g.17542187C>A	NCI-TCGA
rs1376654868	p.Pro702His	missense variant	-	NC_000022.11:g.17542188C>A	gnomAD
rs1376654868	p.Pro702Leu	missense variant	-	NC_000022.11:g.17542188C>T	gnomAD
rs200166225	p.Pro702Thr	missense variant	-	NC_000022.11:g.17542187C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs80293963	p.Arg703Ser	missense variant	-	NC_000022.11:g.17542192G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs915492918	p.Gly705Asp	missense variant	-	NC_000022.11:g.17542197G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Thr706Ile	missense variant	-	NC_000022.11:g.17542200C>T	NCI-TCGA
rs1328315232	p.Pro707Ser	missense variant	-	NC_000022.11:g.17542202C>T	gnomAD
rs763386899	p.Pro707Leu	missense variant	-	NC_000022.11:g.17542203C>T	ExAC,gnomAD
rs763386899	p.Pro707Arg	missense variant	-	NC_000022.11:g.17542203C>G	ExAC,gnomAD
NCI-TCGA novel	p.Glu709Lys	missense variant	-	NC_000022.11:g.17542208G>A	NCI-TCGA
rs370552803	p.Lys710Asn	missense variant	-	NC_000022.11:g.17542213G>C	ESP,ExAC,TOPMed,gnomAD
rs370552803	p.Lys710Asn	missense variant	-	NC_000022.11:g.17542213G>T	ESP,ExAC,TOPMed,gnomAD
rs757893194	p.Met712Thr	missense variant	-	NC_000022.11:g.17542218T>C	ExAC,gnomAD
rs375149434	p.Gly714Arg	missense variant	-	NC_000022.11:g.17542223G>A	ESP,ExAC,gnomAD
rs375149434	p.Gly714Arg	missense variant	-	NC_000022.11:g.17542223G>A	NCI-TCGA
rs375154158	p.Gly715Val	missense variant	-	NC_000022.11:g.17542227G>T	ExAC,TOPMed,gnomAD
rs375154158	p.Gly715Glu	missense variant	-	NC_000022.11:g.17542227G>A	ExAC,TOPMed,gnomAD
rs756173954	p.Gly715Arg	missense variant	-	NC_000022.11:g.17542226G>C	ExAC,TOPMed,gnomAD
rs1045477060	p.Leu719Val	missense variant	-	NC_000022.11:g.17542238C>G	TOPMed
NCI-TCGA novel	p.Leu719Ile	missense variant	-	NC_000022.11:g.17542238C>A	NCI-TCGA
rs1241227407	p.Asn721Asp	missense variant	-	NC_000022.11:g.17542244A>G	TOPMed,gnomAD
rs62623401	p.Met722Val	missense variant	-	NC_000022.11:g.17542247A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs62623401	p.Met722Leu	missense variant	-	NC_000022.11:g.17542247A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs749506545	p.Pro724Leu	missense variant	-	NC_000022.11:g.17542254C>T	ExAC,gnomAD
NCI-TCGA novel	p.His725Arg	missense variant	-	NC_000022.11:g.17542257A>G	NCI-TCGA
rs1414158079	p.Gly727Glu	missense variant	-	NC_000022.11:g.17542263G>A	gnomAD
rs201344281	p.Leu729Ser	missense variant	-	NC_000022.11:g.17542269T>C	ExAC,TOPMed,gnomAD
rs1280553036	p.Leu731Pro	missense variant	-	NC_000022.11:g.17542275T>C	TOPMed
COSM4102431	p.Gly732Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17542277G>T	NCI-TCGA Cosmic
rs555150747	p.Gly732Arg	missense variant	-	NC_000022.11:g.17542277G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1350565538	p.Gly732Glu	missense variant	-	NC_000022.11:g.17542278G>A	TOPMed
COSM1647462	p.Ile734Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17542283A>G	NCI-TCGA Cosmic
rs776463702	p.Ser735Ile	missense variant	-	NC_000022.11:g.17542287G>T	ExAC,TOPMed,gnomAD
rs1352016434	p.Ser738Arg	missense variant	-	NC_000022.11:g.17542295A>C	TOPMed
COSM461172	p.Gln739Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17542298C>G	NCI-TCGA Cosmic
rs1349857911	p.Asp740Val	missense variant	-	NC_000022.11:g.17542302A>T	gnomAD
rs1349857911	p.Asp740Gly	missense variant	-	NC_000022.11:g.17542302A>G	gnomAD
rs1191664064	p.Gly741Glu	missense variant	-	NC_000022.11:g.17542305G>A	TOPMed,gnomAD
rs745331512	p.Gly741Arg	missense variant	-	NC_000022.11:g.17542304G>A	ExAC,TOPMed,gnomAD
rs1276150251	p.Ser742Asn	missense variant	-	NC_000022.11:g.17542308G>A	gnomAD
rs775249697	p.Met743Ile	missense variant	-	NC_000022.11:g.17542312G>A	ExAC,gnomAD
rs769235781	p.Met743Thr	missense variant	-	NC_000022.11:g.17542311T>C	ExAC,gnomAD
rs1345084527	p.Met743Val	missense variant	-	NC_000022.11:g.17542310A>G	gnomAD
COSM2891277	p.Ala745Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17542317C>T	NCI-TCGA Cosmic
rs1206330223	p.Pro746Leu	missense variant	-	NC_000022.11:g.17542320C>T	gnomAD
rs764536216	p.Gln748Arg	missense variant	-	NC_000022.11:g.17542326A>G	ExAC,gnomAD
NCI-TCGA novel	p.Gln748Ter	stop gained	-	NC_000022.11:g.17542325C>T	NCI-TCGA
rs1471932703	p.Phe749Leu	missense variant	-	NC_000022.11:g.17542330C>G	gnomAD
rs1201602380	p.Gln750Ter	stop gained	-	NC_000022.11:g.17542331C>T	gnomAD
rs774795910	p.Pro751Ala	missense variant	-	NC_000022.11:g.17542334C>G	ExAC,TOPMed,gnomAD
COSM4837292	p.Gly752Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17542338G>T	NCI-TCGA Cosmic
rs1035802887	p.Ile754Thr	missense variant	-	NC_000022.11:g.17542344T>C	gnomAD
rs1170827944	p.Ile754Val	missense variant	-	NC_000022.11:g.17542343A>G	gnomAD
rs1430634394	p.Ile754Met	missense variant	-	NC_000022.11:g.17542345T>G	gnomAD
rs1035802887	p.Ile754Ser	missense variant	-	NC_000022.11:g.17542344T>G	gnomAD
rs768023446	p.Pro755Ala	missense variant	-	NC_000022.11:g.17542346C>G	ExAC,gnomAD
COSM3551987	p.Pro755Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17542346C>T	NCI-TCGA Cosmic
rs1003666211	p.Pro755Leu	missense variant	-	NC_000022.11:g.17542347C>T	TOPMed
rs1003666211	p.Pro755Leu	missense variant	-	NC_000022.11:g.17542347C>T	NCI-TCGA
rs756191428	p.Pro756Ala	missense variant	-	NC_000022.11:g.17542349C>G	ExAC,gnomAD
rs766437636	p.Arg757Gln	missense variant	-	NC_000022.11:g.17542353G>A	ExAC,TOPMed,gnomAD
rs1325472870	p.Arg757Trp	missense variant	-	NC_000022.11:g.17542352C>T	TOPMed,gnomAD
rs1160985415	p.His758Tyr	missense variant	-	NC_000022.11:g.17542355C>T	TOPMed
rs754048814	p.His758Arg	missense variant	-	NC_000022.11:g.17542356A>G	ExAC,TOPMed,gnomAD
rs751314301	p.Gly759Glu	missense variant	-	NC_000022.11:g.17542359G>A	ExAC,gnomAD
rs751314301	p.Gly759Ala	missense variant	-	NC_000022.11:g.17542359G>C	ExAC,gnomAD
rs779112675	p.Gly759Trp	missense variant	-	NC_000022.11:g.17542358G>T	ExAC,TOPMed,gnomAD
rs779765763	p.Gly760Glu	missense variant	-	NC_000022.11:g.17542362G>A	ExAC,gnomAD
rs965763745	p.Ala761Thr	missense variant	-	NC_000022.11:g.17542364G>A	TOPMed
rs191800029	p.Ala763Val	missense variant	-	NC_000022.11:g.17542371C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs762217568	p.Ala763Ser	missense variant	-	NC_000022.11:g.17542370G>T	ExAC,TOPMed,gnomAD
rs762217568	p.Ala763Ser	missense variant	-	NC_000022.11:g.17542370G>T	NCI-TCGA
rs144189023	p.Arg764Gln	missense variant	-	NC_000022.11:g.17542374G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1196925978	p.Arg764Trp	missense variant	-	NC_000022.11:g.17542373C>T	gnomAD
rs761145068	p.Pro766Leu	missense variant	-	NC_000022.11:g.17542380C>T	ExAC,gnomAD
rs1388502180	p.Asp767Glu	missense variant	-	NC_000022.11:g.17542384C>A	gnomAD
rs1168176424	p.Asp767Asn	missense variant	-	NC_000022.11:g.17542382G>A	gnomAD
rs1288080187	p.Phe768Leu	missense variant	-	NC_000022.11:g.17542385T>C	TOPMed
rs753849827	p.Pro769Ser	missense variant	-	NC_000022.11:g.17542388C>T	ExAC,TOPMed,gnomAD
rs753849827	p.Pro769Ala	missense variant	-	NC_000022.11:g.17542388C>G	ExAC,TOPMed,gnomAD
rs560689415	p.Pro769Arg	missense variant	-	NC_000022.11:g.17542389C>G	1000Genomes,ExAC,gnomAD
rs753849827	p.Pro769Ser	missense variant	-	NC_000022.11:g.17542388C>T	NCI-TCGA,NCI-TCGA Cosmic
rs765393163	p.Ser772Ala	missense variant	-	NC_000022.11:g.17542397T>G	ExAC,gnomAD
rs1366697940	p.Glu773Gly	missense variant	-	NC_000022.11:g.17542401A>G	gnomAD
rs752966485	p.Glu773Lys	missense variant	-	NC_000022.11:g.17542400G>A	ExAC
rs757045032	p.Ile774Thr	missense variant	-	NC_000022.11:g.17542404T>C	ExAC
rs755944490	p.Pro776Ala	missense variant	-	NC_000022.11:g.17542409C>G	ExAC,TOPMed,gnomAD
rs1460829754	p.Pro776His	missense variant	-	NC_000022.11:g.17542410C>A	TOPMed
rs755944490	p.Pro776Ser	missense variant	-	NC_000022.11:g.17542409C>T	ExAC,TOPMed,gnomAD
rs780142096	p.Ser777Gly	missense variant	-	NC_000022.11:g.17542412A>G	ExAC,gnomAD
rs1208546091	p.Ser777Arg	missense variant	-	NC_000022.11:g.17542414C>G	gnomAD
rs748762083	p.His778Arg	missense variant	-	NC_000022.11:g.17542416A>G	ExAC,gnomAD
rs374914535	p.Met779Thr	missense variant	-	NC_000022.11:g.17542419T>C	ESP,TOPMed
rs199565531	p.Tyr780Cys	missense variant	-	NC_000022.11:g.17542422A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Tyr780His	missense variant	-	NC_000022.11:g.17542421T>C	NCI-TCGA
COSM2891287	p.Arg781Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.17542424C>T	NCI-TCGA Cosmic
rs372510090	p.Arg781Gln	missense variant	-	NC_000022.11:g.17542425G>A	ESP,ExAC,TOPMed,gnomAD
rs1425721045	p.Ser782Leu	missense variant	-	NC_000022.11:g.17542428C>T	gnomAD
rs1244171757	p.Tyr783Cys	missense variant	-	NC_000022.11:g.17542431A>G	TOPMed
rs1371508220	p.Asn787Ser	missense variant	-	NC_000022.11:g.17542443A>G	gnomAD
rs773392224	p.Asn787Lys	missense variant	-	NC_000022.11:g.17542444T>A	ExAC,gnomAD
rs375582437	p.Arg788Gln	missense variant	-	NC_000022.11:g.17542446G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs867067950	p.Arg788Ter	stop gained	-	NC_000022.11:g.17542445C>T	TOPMed
rs867067950	p.Arg788Gly	missense variant	-	NC_000022.11:g.17542445C>G	TOPMed
rs867067950	p.Arg788Ter	stop gained	-	NC_000022.11:g.17542445C>T	NCI-TCGA
NCI-TCGA novel	p.His790Tyr	missense variant	-	NC_000022.11:g.17542451C>T	NCI-TCGA
rs771388012	p.Ser791Cys	missense variant	-	NC_000022.11:g.17542455C>G	ExAC
rs771388012	p.Ser791Cys	missense variant	-	NC_000022.11:g.17542455C>G	NCI-TCGA,NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser791Tyr	missense variant	-	NC_000022.11:g.17542455C>A	NCI-TCGA
rs183626253	p.Ala792Val	missense variant	-	NC_000022.11:g.17542458C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs893590232	p.Val793Ile	missense variant	-	NC_000022.11:g.17542460G>A	gnomAD
rs893590232	p.Val793Ile	missense variant	-	NC_000022.11:g.17542460G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Trp794Ter	stop gained	-	NC_000022.11:g.17542465G>A	NCI-TCGA
rs752958150	p.His798Tyr	missense variant	-	NC_000022.11:g.17542475C>T	ExAC,gnomAD
rs373814902	p.Gly799Val	missense variant	-	NC_000022.11:g.17542479G>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala800Asp	missense variant	-	NC_000022.11:g.17542482C>A	NCI-TCGA
rs188173829	p.Thr801Ala	missense variant	-	NC_000022.11:g.17542484A>G	NCI-TCGA
rs188173829	p.Thr801Ala	missense variant	-	NC_000022.11:g.17542484A>G	1000Genomes,gnomAD
rs764385664	p.Thr801Met	missense variant	-	NC_000022.11:g.17542485C>T	ExAC,TOPMed,gnomAD
rs756001932	p.Gln803Glu	missense variant	-	NC_000022.11:g.17542490C>G	ExAC,gnomAD
COSM3842139	p.Leu806Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17542499T>G	NCI-TCGA Cosmic
rs1395057392	p.Leu806Ser	missense variant	-	NC_000022.11:g.17542500T>C	TOPMed
rs1484398236	p.Pro808Leu	missense variant	-	NC_000022.11:g.17542506C>T	gnomAD
rs1259026427	p.Pro808Ser	missense variant	-	NC_000022.11:g.17542505C>T	gnomAD
rs1185478111	p.Lys811Asn	missense variant	-	NC_000022.11:g.17542516G>T	gnomAD
rs754535050	p.Lys811Glu	missense variant	-	NC_000022.11:g.17542514A>G	ExAC,TOPMed,gnomAD
rs1414112929	p.Pro812Thr	missense variant	-	NC_000022.11:g.17542517C>A	gnomAD
NCI-TCGA novel	p.Gly815Arg	missense variant	-	NC_000022.11:g.17542526G>A	NCI-TCGA
rs552193684	p.Pro816Arg	missense variant	-	NC_000022.11:g.17542530C>G	1000Genomes,ExAC,gnomAD
rs552193684	p.Pro816Leu	missense variant	-	NC_000022.11:g.17542530C>T	1000Genomes,ExAC,gnomAD
rs1467304016	p.Ser819Ala	missense variant	-	NC_000022.11:g.17542538T>G	gnomAD
rs1401005512	p.His820Arg	missense variant	-	NC_000022.11:g.17542542A>G	TOPMed,gnomAD
rs777514261	p.His820Gln	missense variant	-	NC_000022.11:g.17542543C>A	ExAC,gnomAD
rs760278050	p.His820Tyr	missense variant	-	NC_000022.11:g.17542541C>T	ExAC,gnomAD
rs1290532844	p.Gln821Arg	missense variant	-	NC_000022.11:g.17542545A>G	gnomAD
rs771332466	p.Arg823Cys	missense variant	-	NC_000022.11:g.17542550C>T	ExAC,TOPMed,gnomAD
rs777090706	p.Arg823His	missense variant	-	NC_000022.11:g.17542551G>A	ExAC,TOPMed,gnomAD
rs771332466	p.Arg823Cys	missense variant	-	NC_000022.11:g.17542550C>T	NCI-TCGA,NCI-TCGA Cosmic
rs1422176388	p.Thr824Asn	missense variant	-	NC_000022.11:g.17542554C>A	TOPMed
rs769848412	p.Thr824Ala	missense variant	-	NC_000022.11:g.17542553A>G	ExAC
NCI-TCGA novel	p.Thr824Ile	missense variant	-	NC_000022.11:g.17542554C>T	NCI-TCGA
rs376789433	p.Leu825Val	missense variant	-	NC_000022.11:g.17542556C>G	ESP,ExAC,TOPMed,gnomAD
rs376789433	p.Leu825Phe	missense variant	-	NC_000022.11:g.17542556C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu825ProPheSerTerUnk	frameshift	-	NC_000022.11:g.17542557T>-	NCI-TCGA
rs897928746	p.Gly826Ser	missense variant	-	NC_000022.11:g.17542559G>A	TOPMed,gnomAD
rs531781031	p.His827Tyr	missense variant	-	NC_000022.11:g.17542562C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs531781031	p.His827Asp	missense variant	-	NC_000022.11:g.17542562C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs748730538	p.Val828Leu	missense variant	-	NC_000022.11:g.17542565G>T	ExAC,TOPMed,gnomAD
rs748730538	p.Val828Met	missense variant	-	NC_000022.11:g.17542565G>A	ExAC,TOPMed,gnomAD
rs1049374823	p.Ser831Phe	missense variant	-	NC_000022.11:g.17542575C>T	TOPMed
COSM1647459	p.Arg832Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.17542577C>T	NCI-TCGA Cosmic
rs1309474000	p.Arg832Gly	missense variant	-	NC_000022.11:g.17542577C>G	TOPMed
rs754905189	p.Arg832Gln	missense variant	-	NC_000022.11:g.17542578G>A	ExAC,TOPMed,gnomAD
rs1405641894	p.Arg835Gly	missense variant	-	NC_000022.11:g.17542586A>G	gnomAD
rs1233212895	p.Pro837Ser	missense variant	-	NC_000022.11:g.17542592C>T	TOPMed
NCI-TCGA novel	p.Pro837Leu	missense variant	-	NC_000022.11:g.17542593C>T	NCI-TCGA
rs1371677722	p.Val838Ala	missense variant	-	NC_000022.11:g.17542596T>C	TOPMed
rs548687461	p.Val838Phe	missense variant	-	NC_000022.11:g.17542595G>T	1000Genomes,ExAC,gnomAD
rs61740316	p.Pro839Ser	missense variant	-	NC_000022.11:g.17542598C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs61740316	p.Pro839Ala	missense variant	-	NC_000022.11:g.17542598C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs377545671	p.Pro840Thr	missense variant	-	NC_000022.11:g.17542601C>A	ESP,ExAC,TOPMed,gnomAD
rs370474804	p.Pro840Leu	missense variant	-	NC_000022.11:g.17542602C>T	ESP,ExAC,TOPMed,gnomAD
rs377545671	p.Pro840Ala	missense variant	-	NC_000022.11:g.17542601C>G	ESP,ExAC,TOPMed,gnomAD
rs370474804	p.Pro840His	missense variant	-	NC_000022.11:g.17542602C>A	ESP,ExAC,TOPMed,gnomAD
rs377545671	p.Pro840Ser	missense variant	-	NC_000022.11:g.17542601C>T	ESP,ExAC,TOPMed,gnomAD
rs370474804	p.Pro840Arg	missense variant	-	NC_000022.11:g.17542602C>G	ESP,ExAC,TOPMed,gnomAD
rs746241065	p.Asn841Ser	missense variant	-	NC_000022.11:g.17542605A>G	ExAC,gnomAD
NCI-TCGA novel	p.Asn841ThrPheSerTerUnkUnk	frameshift	-	NC_000022.11:g.17542597C>-	NCI-TCGA
rs754411618	p.Asn841GlnPheSerTerUnk	frameshift	-	NC_000022.11:g.17542596_17542597insC	NCI-TCGA,NCI-TCGA Cosmic
rs1172166838	p.Trp843Cys	missense variant	-	NC_000022.11:g.17542612G>C	TOPMed
NCI-TCGA novel	p.Trp843Leu	missense variant	-	NC_000022.11:g.17542611G>T	NCI-TCGA
rs763476560	p.Thr844Ala	missense variant	-	NC_000022.11:g.17542613A>G	ExAC,TOPMed,gnomAD
rs1396048894	p.Glu845Lys	missense variant	-	NC_000022.11:g.17542616G>A	TOPMed
rs768824476	p.Gln846His	missense variant	-	NC_000022.11:g.17542621A>T	ExAC,gnomAD
rs534308593	p.Gln846Leu	missense variant	-	NC_000022.11:g.17542620A>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1219889810	p.Gln846Ter	stop gained	-	NC_000022.11:g.17542619C>T	gnomAD
rs1417849839	p.Ser847Ala	missense variant	-	NC_000022.11:g.17542622T>G	TOPMed
rs1276575213	p.Gly848Cys	missense variant	-	NC_000022.11:g.17542625G>T	gnomAD
rs1249984919	p.Gly848Val	missense variant	-	NC_000022.11:g.17542626G>T	TOPMed
rs1483273164	p.Phe849Ile	missense variant	-	NC_000022.11:g.17542628T>A	gnomAD
rs1203509755	p.Phe849Tyr	missense variant	-	NC_000022.11:g.17542629T>A	gnomAD
rs767869496	p.His852Arg	missense variant	-	NC_000022.11:g.17542638A>G	ExAC,gnomAD
rs1481746506	p.Pro855Leu	missense variant	-	NC_000022.11:g.17542647C>T	TOPMed
NCI-TCGA novel	p.Ser856Phe	missense variant	-	NC_000022.11:g.17542650C>T	NCI-TCGA
rs1452227691	p.Gly858Glu	missense variant	-	NC_000022.11:g.17542656G>A	gnomAD
rs765038064	p.Met860Leu	missense variant	-	NC_000022.11:g.17542661A>T	ExAC,TOPMed,gnomAD
rs765038064	p.Met860Val	missense variant	-	NC_000022.11:g.17542661A>G	ExAC,TOPMed,gnomAD
rs973585534	p.Met860Ile	missense variant	-	NC_000022.11:g.17542663G>A	gnomAD
rs1390347431	p.Arg861Gln	missense variant	-	NC_000022.11:g.17542665G>A	gnomAD
rs1390347431	p.Arg861Gln	missense variant	-	NC_000022.11:g.17542665G>A	NCI-TCGA Cosmic
rs762336876	p.Pro862Leu	missense variant	-	NC_000022.11:g.17542668C>T	NCI-TCGA
rs762336876	p.Pro862Leu	missense variant	-	NC_000022.11:g.17542668C>T	ExAC,gnomAD
rs752731044	p.Pro862Thr	missense variant	-	NC_000022.11:g.17542667C>A	ExAC,gnomAD
COSM256603	p.Pro863Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17542670C>T	NCI-TCGA Cosmic
rs751199504	p.Pro863His	missense variant	-	NC_000022.11:g.17542671C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser866Tyr	missense variant	-	NC_000022.11:g.17542680C>A	NCI-TCGA
rs750743419	p.Ala867Val	missense variant	-	NC_000022.11:g.17542683C>T	ExAC,TOPMed,gnomAD
rs570964077	p.Gly868Arg	missense variant	-	NC_000022.11:g.17542685G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs749874860	p.His869Arg	missense variant	-	NC_000022.11:g.17542689A>G	ExAC,gnomAD
rs778996983	p.Arg870Gln	missense variant	-	NC_000022.11:g.17542692G>A	ExAC,TOPMed,gnomAD
rs768608640	p.Arg870Trp	missense variant	-	NC_000022.11:g.17542691C>T	ExAC,TOPMed,gnomAD
rs1272039825	p.Pro873Arg	missense variant	-	NC_000022.11:g.17542701C>G	gnomAD
rs1466576763	p.Pro874Ser	missense variant	-	NC_000022.11:g.17542703C>T	gnomAD
rs1414986222	p.Pro874Leu	missense variant	-	NC_000022.11:g.17542704C>T	TOPMed
rs772379155	p.Ser880Gly	missense variant	-	NC_000022.11:g.17542721A>G	ExAC,gnomAD
rs1474842980	p.Leu882Phe	missense variant	-	NC_000022.11:g.17542729G>C	TOPMed,gnomAD
rs946569452	p.Leu882Ser	missense variant	-	NC_000022.11:g.17542728T>C	TOPMed
rs1185214882	p.Gly884Arg	missense variant	-	NC_000022.11:g.17542733G>A	gnomAD
rs773592361	p.Gly884Val	missense variant	-	NC_000022.11:g.17542734G>T	ExAC,gnomAD
rs773592361	p.Gly884Glu	missense variant	-	NC_000022.11:g.17542734G>A	ExAC,gnomAD
rs371155032	p.Ala885Val	missense variant	-	NC_000022.11:g.17542737C>T	ESP,ExAC,TOPMed,gnomAD
rs375454384	p.Ala887Val	missense variant	-	NC_000022.11:g.17542743C>T	ESP,ExAC,TOPMed,gnomAD
rs375454384	p.Ala887Gly	missense variant	-	NC_000022.11:g.17542743C>G	ESP,ExAC,TOPMed,gnomAD
rs763004900	p.Gln888His	missense variant	-	NC_000022.11:g.17542747G>C	ExAC,gnomAD
rs540078259	p.Arg891Gln	missense variant	-	NC_000022.11:g.17542755G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs763950393	p.Arg891Trp	missense variant	-	NC_000022.11:g.17542754C>T	ExAC,TOPMed,gnomAD
rs763950393	p.Arg891Trp	missense variant	-	NC_000022.11:g.17542754C>T	NCI-TCGA
COSM6094736	p.Gly892Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17542757G>T	NCI-TCGA Cosmic
rs919306125	p.Gly892Val	missense variant	-	NC_000022.11:g.17542758G>T	TOPMed
rs1268237122	p.Gly892Arg	missense variant	-	NC_000022.11:g.17542757G>C	TOPMed,gnomAD
COSM5366376	p.Val893CysPheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.17542755G>-	NCI-TCGA Cosmic
rs574882726	p.Val893Leu	missense variant	-	NC_000022.11:g.17542760G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs750122881	p.Gly895Arg	missense variant	-	NC_000022.11:g.17542766G>A	ExAC,gnomAD
NCI-TCGA novel	p.Gly895Glu	missense variant	-	NC_000022.11:g.17542767G>A	NCI-TCGA
rs1261197009	p.Gly896Arg	missense variant	-	NC_000022.11:g.17542769G>C	TOPMed
rs756433243	p.Asp897Tyr	missense variant	-	NC_000022.11:g.17542772G>T	ExAC
rs371894172	p.Met899Val	missense variant	-	NC_000022.11:g.17542778A>G	ESP,TOPMed
NCI-TCGA novel	p.Met899Ile	missense variant	-	NC_000022.11:g.17542780G>T	NCI-TCGA
rs1332083228	p.Met900Ile	missense variant	-	NC_000022.11:g.17542783G>A	TOPMed
rs375046067	p.Asp901Asn	missense variant	-	NC_000022.11:g.17542784G>A	ESP,TOPMed,gnomAD
rs1233586469	p.Asp901Gly	missense variant	-	NC_000022.11:g.17542785A>G	TOPMed
rs1268190307	p.Ser902Arg	missense variant	-	NC_000022.11:g.17542789C>A	gnomAD
rs1268190307	p.Ser902Arg	missense variant	-	NC_000022.11:g.17542789C>A	NCI-TCGA Cosmic
rs1238797754	p.Met905Ile	missense variant	-	NC_000022.11:g.17542798G>T	gnomAD
rs895797338	p.Ile906Thr	missense variant	-	NC_000022.11:g.17542800T>C	gnomAD
rs751991001	p.Ala907Val	missense variant	-	NC_000022.11:g.17542803C>T	ExAC,gnomAD
rs751991001	p.Ala907Val	missense variant	-	NC_000022.11:g.17542803C>T	NCI-TCGA,NCI-TCGA Cosmic
rs1040239492	p.Met908Ile	missense variant	-	NC_000022.11:g.17542807G>C	TOPMed
rs748190052	p.Leu911Pro	missense variant	-	NC_000022.11:g.17542815T>C	ExAC,gnomAD
NCI-TCGA novel	p.Ser912Phe	missense variant	-	NC_000022.11:g.17542818C>T	NCI-TCGA
rs749037630	p.Arg914His	missense variant	-	NC_000022.11:g.17542824G>A	ExAC,TOPMed,gnomAD
rs371506365	p.Arg914Cys	missense variant	-	NC_000022.11:g.17542823C>T	ESP,ExAC,TOPMed
rs554165872	p.Val915Ile	missense variant	-	NC_000022.11:g.17542826G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1448484952	p.Cys916Arg	missense variant	-	NC_000022.11:g.17542829T>C	gnomAD
rs1292384319	p.Cys916Phe	missense variant	-	NC_000022.11:g.17542830G>T	gnomAD
rs1292384319	p.Cys916Phe	missense variant	-	NC_000022.11:g.17542830G>T	NCI-TCGA
rs772841909	p.Pro917Leu	missense variant	-	NC_000022.11:g.17542833C>T	ExAC,gnomAD
rs761287576	p.Pro917Ala	missense variant	-	NC_000022.11:g.17542832C>G	ExAC,TOPMed,gnomAD
rs761287576	p.Pro917Ser	missense variant	-	NC_000022.11:g.17542832C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro917Thr	missense variant	-	NC_000022.11:g.17542832C>A	NCI-TCGA
rs574162099	p.Pro918Leu	missense variant	-	NC_000022.11:g.17542836C>T	1000Genomes,ExAC,gnomAD
rs574162099	p.Pro918Arg	missense variant	-	NC_000022.11:g.17542836C>G	1000Genomes,ExAC,gnomAD
rs574162099	p.Pro918Gln	missense variant	-	NC_000022.11:g.17542836C>A	1000Genomes,ExAC,gnomAD
rs1349361488	p.Gly919Asp	missense variant	-	NC_000022.11:g.17542839G>A	gnomAD
rs1221535417	p.Val920Met	missense variant	-	NC_000022.11:g.17542841G>A	gnomAD
rs754190762	p.Pro924Ala	missense variant	-	NC_000022.11:g.17542853C>G	ExAC,gnomAD
rs753298554	p.His925Pro	missense variant	-	NC_000022.11:g.17542857A>C	ExAC,gnomAD
rs374991571	p.His925Asn	missense variant	-	NC_000022.11:g.17542856C>A	ESP,ExAC,TOPMed,gnomAD
rs758545887	p.Gln926Arg	missense variant	-	NC_000022.11:g.17542860A>G	ExAC,TOPMed,gnomAD
rs781296557	p.His929Arg	missense variant	-	NC_000022.11:g.17542869A>G	ExAC,gnomAD
rs749059089	p.His929Gln	missense variant	-	NC_000022.11:g.17542870C>A	ExAC,TOPMed,gnomAD
rs757433754	p.His929Asp	missense variant	-	NC_000022.11:g.17542868C>G	ExAC,TOPMed,gnomAD
COSM3551995	p.Pro930Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17542872C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro930Ser	missense variant	-	NC_000022.11:g.17542871C>T	NCI-TCGA
rs371679902	p.Arg931His	missense variant	-	NC_000022.11:g.17542875G>A	ExAC,TOPMed,gnomAD
rs774238904	p.Arg931Cys	missense variant	-	NC_000022.11:g.17542874C>T	ExAC,TOPMed,gnomAD
rs371679902	p.Arg931His	missense variant	-	NC_000022.11:g.17542875G>A	NCI-TCGA,NCI-TCGA Cosmic
rs774238904	p.Arg931Cys	missense variant	-	NC_000022.11:g.17542874C>T	NCI-TCGA
NCI-TCGA novel	p.Arg931LeuPheSerTerUnkUnk	frameshift	-	NC_000022.11:g.17542874_17542875insT	NCI-TCGA
rs1411378531	p.Leu932Ser	missense variant	-	NC_000022.11:g.17542878T>C	gnomAD
rs1335032436	p.Phe936Ile	missense variant	-	NC_000022.11:g.17542889T>A	gnomAD
rs1236274713	p.Pro937Ser	missense variant	-	NC_000022.11:g.17542892C>T	gnomAD
rs772013265	p.Pro937Leu	missense variant	-	NC_000022.11:g.17542893C>T	ExAC,TOPMed,gnomAD
rs1236274713	p.Pro937Ser	missense variant	-	NC_000022.11:g.17542892C>T	NCI-TCGA Cosmic
rs373510634	p.Val939Leu	missense variant	-	NC_000022.11:g.17542898G>T	ESP,ExAC,TOPMed,gnomAD
rs1278695778	p.Ala940Thr	missense variant	-	NC_000022.11:g.17542901G>A	gnomAD
NCI-TCGA novel	p.Ala940Ser	missense variant	-	NC_000022.11:g.17542901G>T	NCI-TCGA
rs766008292	p.His941Arg	missense variant	-	NC_000022.11:g.17542905A>G	ExAC,gnomAD
rs766008292	p.His941Arg	missense variant	-	NC_000022.11:g.17542905A>G	NCI-TCGA
rs1250439461	p.Pro942Ala	missense variant	-	NC_000022.11:g.17542907C>G	gnomAD
rs1436518987	p.Pro942Arg	missense variant	-	NC_000022.11:g.17542908C>G	gnomAD
rs759916074	p.Met943Val	missense variant	-	NC_000022.11:g.17542910A>G	ExAC,gnomAD
rs1247358202	p.Ser944Thr	missense variant	-	NC_000022.11:g.17542913T>A	gnomAD
rs1454037670	p.Val945Ala	missense variant	-	NC_000022.11:g.17542917T>C	gnomAD
rs765766105	p.Thr946Ile	missense variant	-	NC_000022.11:g.17542920C>T	ExAC,TOPMed
rs1431404739	p.Val947Gly	missense variant	-	NC_000022.11:g.17542923T>G	gnomAD
rs1431404739	p.Val947Ala	missense variant	-	NC_000022.11:g.17542923T>C	gnomAD
rs1476064838	p.Val947Leu	missense variant	-	NC_000022.11:g.17542922G>T	gnomAD
rs1325305380	p.Ala949Ser	missense variant	-	NC_000022.11:g.17542928G>T	TOPMed
rs758915481	p.Lys951Arg	missense variant	-	NC_000022.11:g.17542935A>G	ExAC,gnomAD
rs764701990	p.Ala953Thr	missense variant	-	NC_000022.11:g.17542940G>A	ExAC,TOPMed,gnomAD
rs764701990	p.Ala953Ser	missense variant	-	NC_000022.11:g.17542940G>T	ExAC,TOPMed,gnomAD
rs764701990	p.Ala953Pro	missense variant	-	NC_000022.11:g.17542940G>C	ExAC,TOPMed,gnomAD
rs751613694	p.Asn956Tyr	missense variant	-	NC_000022.11:g.17542949A>T	ExAC,gnomAD
rs1439453680	p.Pro957Leu	missense variant	-	NC_000022.11:g.17542953C>T	gnomAD
NCI-TCGA novel	p.Pro957LeuPheSerTerUnkUnk	frameshift	-	NC_000022.11:g.17542951C>-	NCI-TCGA
rs369725349	p.Gly958Arg	missense variant	-	NC_000022.11:g.17542955G>A	ESP,ExAC,gnomAD
rs753114764	p.Ala960Thr	missense variant	-	NC_000022.11:g.17542961G>A	gnomAD
rs754756829	p.Pro961Leu	missense variant	-	NC_000022.11:g.17542965C>T	ExAC,TOPMed,gnomAD
rs577013970	p.Pro961Ser	missense variant	-	NC_000022.11:g.17542964C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs754756829	p.Pro961Leu	missense variant	-	NC_000022.11:g.17542965C>T	NCI-TCGA,NCI-TCGA Cosmic
rs1212118850	p.Glu962Lys	missense variant	-	NC_000022.11:g.17542967G>A	gnomAD
rs1212118850	p.Glu962Lys	missense variant	-	NC_000022.11:g.17542967G>A	NCI-TCGA Cosmic
rs1291161615	p.Asn963Ile	missense variant	-	NC_000022.11:g.17542971A>T	gnomAD
rs1190205803	p.Ser964Gly	missense variant	-	NC_000022.11:g.17542973A>G	TOPMed
rs1250155010	p.Glu968Lys	missense variant	-	NC_000022.11:g.17542985G>A	gnomAD
rs1250155010	p.Glu968Gln	missense variant	-	NC_000022.11:g.17542985G>C	gnomAD
rs1250155010	p.Glu968Lys	missense variant	-	NC_000022.11:g.17542985G>A	NCI-TCGA
rs1250155010	p.Glu968Gln	missense variant	-	NC_000022.11:g.17542985G>C	NCI-TCGA
rs1452511860	p.Pro969Ala	missense variant	-	NC_000022.11:g.17542988C>G	TOPMed
rs771961965	p.Glu970Lys	missense variant	-	NC_000022.11:g.17542991G>A	ExAC,gnomAD
rs771961965	p.Glu970Lys	missense variant	-	NC_000022.11:g.17542991G>A	NCI-TCGA
rs1252258606	p.Asp972Tyr	missense variant	-	NC_000022.11:g.17542997G>T	TOPMed
NCI-TCGA novel	p.Asp972Gly	missense variant	-	NC_000022.11:g.17542998A>G	NCI-TCGA
rs777593552	p.Gln973Arg	missense variant	-	NC_000022.11:g.17543001A>G	ExAC,gnomAD
rs1355461835	p.Glu975Lys	missense variant	-	NC_000022.11:g.17548150G>A	gnomAD
rs777735148	p.Pro976Leu	missense variant	-	NC_000022.11:g.17548154C>T	ExAC,TOPMed,gnomAD
rs758238356	p.Pro976Ser	missense variant	-	NC_000022.11:g.17548153C>T	ExAC,gnomAD
rs777735148	p.Pro976Arg	missense variant	-	NC_000022.11:g.17548154C>G	ExAC,TOPMed,gnomAD
rs746987524	p.Leu977Phe	missense variant	-	NC_000022.11:g.17548158G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu977Met	missense variant	-	NC_000022.11:g.17548156T>A	NCI-TCGA
rs1326537227	p.Pro984Ala	missense variant	-	NC_000022.11:g.17548177C>G	TOPMed
rs923181398	p.Pro984Arg	missense variant	-	NC_000022.11:g.17548178C>G	TOPMed,gnomAD
rs923181398	p.Pro984Leu	missense variant	-	NC_000022.11:g.17548178C>T	TOPMed,gnomAD
rs1485325889	p.Pro985Ser	missense variant	-	NC_000022.11:g.17548180C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Pro985Thr	missense variant	-	NC_000022.11:g.17548180C>A	NCI-TCGA
rs770463054	p.Gly986Arg	missense variant	-	NC_000022.11:g.17548183G>C	ExAC,gnomAD
rs1195959398	p.Val987Ile	missense variant	-	NC_000022.11:g.17548186G>A	TOPMed,gnomAD
COSM2891315	p.Glu991Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17548198G>C	NCI-TCGA Cosmic
rs780508638	p.Glu991Lys	missense variant	-	NC_000022.11:g.17548198G>A	ExAC,TOPMed,gnomAD
rs1240821807	p.Gly992Arg	missense variant	-	NC_000022.11:g.17548201G>C	TOPMed,gnomAD
rs1240821807	p.Gly992Arg	missense variant	-	NC_000022.11:g.17548201G>A	TOPMed,gnomAD
rs769530792	p.Val993Phe	missense variant	-	NC_000022.11:g.17548204G>T	ExAC,TOPMed,gnomAD
rs1361762224	p.Tyr994Phe	missense variant	-	NC_000022.11:g.17548208A>T	gnomAD
rs775299608	p.Thr996Ser	missense variant	-	NC_000022.11:g.17548213A>T	ExAC,gnomAD
rs1271482010	p.Thr996Ile	missense variant	-	NC_000022.11:g.17548214C>T	TOPMed
rs1340073398	p.Leu998Val	missense variant	-	NC_000022.11:g.17548219C>G	TOPMed
NCI-TCGA novel	p.Leu998Pro	missense variant	-	NC_000022.11:g.17548220T>C	NCI-TCGA
rs763383175	p.Pro999Leu	missense variant	-	NC_000022.11:g.17548223C>T	ExAC,gnomAD
rs1390902820	p.His1000Gln	missense variant	-	NC_000022.11:g.17548227C>A	gnomAD
rs1374600578	p.His1000Arg	missense variant	-	NC_000022.11:g.17548226A>G	gnomAD
rs1304939038	p.Thr1002Ile	missense variant	-	NC_000022.11:g.17548232C>T	gnomAD
rs1300127854	p.Leu1005Pro	missense variant	-	NC_000022.11:g.17548241T>C	TOPMed
COSM1031855	p.Gln1006Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.17548243C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asp1008Asn	missense variant	-	NC_000022.11:g.17548249G>A	NCI-TCGA
rs1174712019	p.Cys1009Tyr	missense variant	-	NC_000022.11:g.17548253G>A	gnomAD
rs774915476	p.Thr1010Ile	missense variant	-	NC_000022.11:g.17548256C>T	ExAC,TOPMed,gnomAD
rs1370490767	p.Thr1010Pro	missense variant	-	NC_000022.11:g.17548255A>C	TOPMed
rs774915476	p.Thr1010Ser	missense variant	-	NC_000022.11:g.17548256C>G	ExAC,TOPMed,gnomAD
rs1346908972	p.Arg1011Lys	missense variant	-	NC_000022.11:g.17548259G>A	gnomAD
rs1208377079	p.Gln1012Arg	missense variant	-	NC_000022.11:g.17548262A>G	gnomAD
rs572491894	p.Ser1013Cys	missense variant	-	NC_000022.11:g.17548264A>T	TOPMed,gnomAD
rs762171382	p.Ser1014Ter	stop gained	-	NC_000022.11:g.17548268C>G	ExAC
rs1328023397	p.Pro1015Ser	missense variant	-	NC_000022.11:g.17548270C>T	TOPMed
rs947142622	p.Gln1016Lys	missense variant	-	NC_000022.11:g.17548273C>A	TOPMed
rs768076456	p.Glu1017Lys	missense variant	-	NC_000022.11:g.17548276G>A	ExAC,TOPMed,gnomAD
rs750433289	p.Glu1017Asp	missense variant	-	NC_000022.11:g.17548278A>T	ExAC,gnomAD
rs1434596142	p.Arg1018Lys	missense variant	-	NC_000022.11:g.17548280G>A	gnomAD
rs766566344	p.Val1021Met	missense variant	-	NC_000022.11:g.17548288G>A	ExAC,gnomAD
rs899312781	p.Gly1022Ser	missense variant	-	NC_000022.11:g.17548291G>A	TOPMed,gnomAD
rs1170806305	p.Gly1022Val	missense variant	-	NC_000022.11:g.17548292G>T	gnomAD
rs754100190	p.Pro1023Ala	missense variant	-	NC_000022.11:g.17548294C>G	ExAC,gnomAD
rs370696488	p.Pro1023Leu	missense variant	-	NC_000022.11:g.17548295C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs751381916	p.Lys1026Thr	missense variant	-	NC_000022.11:g.17548304A>C	ExAC,gnomAD
rs1479206066	p.Lys1026Gln	missense variant	-	NC_000022.11:g.17548303A>C	TOPMed
rs1302957898	p.Ser1028Thr	missense variant	-	NC_000022.11:g.17548310G>C	gnomAD
rs781220737	p.Ala1033Val	missense variant	-	NC_000022.11:g.17548325C>T	ExAC,TOPMed,gnomAD
rs781220737	p.Ala1033Gly	missense variant	-	NC_000022.11:g.17548325C>G	ExAC,TOPMed,gnomAD
rs755729821	p.Asn1035Ser	missense variant	-	NC_000022.11:g.17548331A>G	ExAC,TOPMed,gnomAD
rs993502269	p.Ala1038Thr	missense variant	-	NC_000022.11:g.17548339G>A	TOPMed
rs1047746260	p.Met1039Ile	missense variant	-	NC_000022.11:g.17548344G>A	TOPMed,gnomAD
rs1203712862	p.Lys1042Glu	missense variant	-	NC_000022.11:g.17548351A>G	gnomAD
rs201295786	p.Lys1042Arg	missense variant	-	NC_000022.11:g.17548352A>G	ESP,ExAC,TOPMed,gnomAD
rs554402218	p.Pro1044Ser	missense variant	-	NC_000022.11:g.17548357C>T	1000Genomes,TOPMed
COSM3551999	p.Pro1046Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17548364C>T	NCI-TCGA Cosmic
rs574553165	p.Ser1047Leu	missense variant	-	NC_000022.11:g.17548367C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1352219709	p.Asp1048Asn	missense variant	-	NC_000022.11:g.17548369G>A	TOPMed
rs1433548543	p.Ser1049Asn	missense variant	-	NC_000022.11:g.17548373G>A	TOPMed
rs773757364	p.Ser1050Gly	missense variant	-	NC_000022.11:g.17548375A>G	ExAC,gnomAD
rs368828545	p.Gly1053Ser	missense variant	-	NC_000022.11:g.17548384G>A	ESP,ExAC,TOPMed,gnomAD
rs1286205890	p.Pro1054Leu	missense variant	-	NC_000022.11:g.17548388C>T	gnomAD
rs765498466	p.Pro1054Ser	missense variant	-	NC_000022.11:g.17548387C>T	ExAC,TOPMed,gnomAD
rs201042679	p.Ala1056Gly	missense variant	-	NC_000022.11:g.17548394C>G	ESP,ExAC,TOPMed,gnomAD
rs370892204	p.Ala1056Thr	missense variant	-	NC_000022.11:g.17548393G>A	ESP,ExAC,TOPMed,gnomAD
rs370892204	p.Ala1056Ser	missense variant	-	NC_000022.11:g.17548393G>T	ESP,ExAC,TOPMed,gnomAD
rs1271768236	p.Gln1057Arg	missense variant	-	NC_000022.11:g.17548397A>G	TOPMed,gnomAD
rs1362431999	p.Gly1058Arg	missense variant	-	NC_000022.11:g.17548399G>A	gnomAD
rs368251446	p.Gly1058Glu	missense variant	-	NC_000022.11:g.17548400G>A	ESP,ExAC,TOPMed,gnomAD
rs779767457	p.Cys1059Tyr	missense variant	-	NC_000022.11:g.17548403G>A	ExAC,gnomAD
rs371695265	p.Val1060Met	missense variant	-	NC_000022.11:g.17548405G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs778651502	p.Thr1065Met	missense variant	-	NC_000022.11:g.17548421C>T	ExAC,TOPMed,gnomAD
rs1193253270	p.Ala1067Thr	missense variant	-	NC_000022.11:g.17548426G>A	gnomAD
rs1475309438	p.Gly1070Val	missense variant	-	NC_000022.11:g.17548436G>T	gnomAD
rs1291357851	p.Ala1071Ser	missense variant	-	NC_000022.11:g.17548438G>T	TOPMed
rs371779588	p.Leu1072Val	missense variant	-	NC_000022.11:g.17548441C>G	ESP,ExAC,TOPMed,gnomAD
rs1344217120	p.Glu1074Asp	missense variant	-	NC_000022.11:g.17548449G>T	TOPMed
rs200483181	p.Glu1074Lys	missense variant	-	NC_000022.11:g.17548447G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu1074GlyPheSerTerUnkUnk	frameshift	-	NC_000022.11:g.17548448_17548461AGAACGGAGTCATT>-	NCI-TCGA
rs776623814	p.Asn1075His	missense variant	-	NC_000022.11:g.17548450A>C	ExAC,TOPMed,gnomAD
rs776623814	p.Asn1075Asp	missense variant	-	NC_000022.11:g.17548450A>G	ExAC,TOPMed,gnomAD
rs1319269560	p.Gly1076Arg	missense variant	-	NC_000022.11:g.17548453G>A	TOPMed,gnomAD
rs1474935914	p.Val1077Asp	missense variant	-	NC_000022.11:g.17548457T>A	TOPMed
rs201137830	p.Ile1078Thr	missense variant	-	NC_000022.11:g.17548460T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1429782810	p.Ile1078Met	missense variant	-	NC_000022.11:g.17548461T>G	TOPMed,gnomAD
rs1485041858	p.Gly1079Arg	missense variant	-	NC_000022.11:g.17548462G>C	TOPMed
NCI-TCGA novel	p.Gly1079Arg	missense variant	-	NC_000022.11:g.17548462G>A	NCI-TCGA
rs920660480	p.Glu1080Lys	missense variant	-	NC_000022.11:g.17548465G>A	gnomAD
rs1357359366	p.Glu1080Ala	missense variant	-	NC_000022.11:g.17548466A>C	gnomAD
rs761482382	p.Pro1083Ala	missense variant	-	NC_000022.11:g.17548474C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro1083Ser	missense variant	-	NC_000022.11:g.17548474C>T	NCI-TCGA
NCI-TCGA novel	p.Gly1085Val	missense variant	-	NC_000022.11:g.17548481G>T	NCI-TCGA
rs750370962	p.Ser1086Leu	missense variant	-	NC_000022.11:g.17548484C>T	ExAC,TOPMed,gnomAD
rs562067573	p.Glu1087Lys	missense variant	-	NC_000022.11:g.17548486G>A	1000Genomes,gnomAD
COSM3552001	p.Gly1088Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17548490G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Lys1089AsnPheSerTerUnk	frameshift	-	NC_000022.11:g.17548493_17548494insT	NCI-TCGA
rs756055357	p.Leu1091Arg	missense variant	-	NC_000022.11:g.17548499T>G	ExAC,TOPMed,gnomAD
rs766452519	p.Gly1092Arg	missense variant	-	NC_000022.11:g.17548501G>C	ExAC,TOPMed,gnomAD
rs766452519	p.Gly1092Ser	missense variant	-	NC_000022.11:g.17548501G>A	ExAC,TOPMed,gnomAD
rs1486313824	p.Ser1093Gly	missense variant	-	NC_000022.11:g.17548504A>G	gnomAD
rs369500490	p.Ser1093Ile	missense variant	-	NC_000022.11:g.17548505G>T	ESP,ExAC,TOPMed,gnomAD
rs369500490	p.Ser1093Thr	missense variant	-	NC_000022.11:g.17548505G>C	ESP,ExAC,TOPMed,gnomAD
rs1255979923	p.Ser1094Gly	missense variant	-	NC_000022.11:g.17548507A>G	gnomAD
rs1278514042	p.Gly1095Asp	missense variant	-	NC_000022.11:g.17548511G>A	TOPMed,gnomAD
rs752465426	p.Glu1097Lys	missense variant	-	NC_000022.11:g.17548516G>A	ExAC,TOPMed,gnomAD
rs758680683	p.Leu1099Pro	missense variant	-	NC_000022.11:g.17548523T>C	ExAC,gnomAD
rs1156653093	p.Leu1100Phe	missense variant	-	NC_000022.11:g.17548525C>T	gnomAD
rs1312232447	p.Arg1103Gly	missense variant	-	NC_000022.11:g.17548534A>G	gnomAD
NCI-TCGA novel	p.Arg1103Thr	missense variant	-	NC_000022.11:g.17548535G>C	NCI-TCGA
rs1443818787	p.Gly1104Asp	missense variant	-	NC_000022.11:g.17548538G>A	gnomAD
rs1353412481	p.Gly1104Ser	missense variant	-	NC_000022.11:g.17548537G>A	gnomAD
rs1461413213	p.Thr1106Ser	missense variant	-	NC_000022.11:g.17548543A>T	TOPMed
rs756767133	p.Thr1106Arg	missense variant	-	NC_000022.11:g.17548544C>G	ExAC,TOPMed,gnomAD
rs756767133	p.Thr1106Met	missense variant	-	NC_000022.11:g.17548544C>T	ExAC,TOPMed,gnomAD
rs1010125185	p.Gln1108Arg	missense variant	-	NC_000022.11:g.17548550A>G	TOPMed
rs1467443513	p.Glu1109Lys	missense variant	-	NC_000022.11:g.17548552G>A	gnomAD
NCI-TCGA novel	p.Pro1112Ser	missense variant	-	NC_000022.11:g.17548561C>T	NCI-TCGA
rs186816630	p.Thr1114Met	missense variant	-	NC_000022.11:g.17548568C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs373078553	p.Gly1115Glu	missense variant	-	NC_000022.11:g.17548571G>A	ESP,ExAC,TOPMed,gnomAD
rs1210535333	p.Gly1115Arg	missense variant	-	NC_000022.11:g.17548570G>A	gnomAD
rs769011525	p.Ala1118Thr	missense variant	-	NC_000022.11:g.17548579G>A	ExAC,gnomAD
rs769011525	p.Ala1118Ser	missense variant	-	NC_000022.11:g.17548579G>T	ExAC,gnomAD
rs773103346	p.Ala1119Thr	missense variant	-	NC_000022.11:g.17548582G>A	ExAC,gnomAD
rs1468839453	p.Ala1119Val	missense variant	-	NC_000022.11:g.17548583C>T	gnomAD
rs1468839453	p.Ala1119Gly	missense variant	-	NC_000022.11:g.17548583C>G	gnomAD
rs766397464	p.Thr1120Ile	missense variant	-	NC_000022.11:g.17548586C>T	ExAC,gnomAD
rs753854261	p.Pro1121Ser	missense variant	-	NC_000022.11:g.17548588C>T	ExAC,TOPMed,gnomAD
rs758968482	p.Pro1121Leu	missense variant	-	NC_000022.11:g.17548589C>T	ExAC,TOPMed,gnomAD
rs764864172	p.Thr1124Ala	missense variant	-	NC_000022.11:g.17548597A>G	ExAC,gnomAD
rs745565837	p.Asp1125Glu	missense variant	-	NC_000022.11:g.17548602C>G	ExAC,TOPMed,gnomAD
rs1329005384	p.Asp1125Gly	missense variant	-	NC_000022.11:g.17548601A>G	gnomAD
rs745565837	p.Asp1125Glu	missense variant	-	NC_000022.11:g.17548602C>A	ExAC,TOPMed,gnomAD
rs1230113168	p.Asp1125Tyr	missense variant	-	NC_000022.11:g.17548600G>T	TOPMed
rs757980872	p.Pro1126Ser	missense variant	-	NC_000022.11:g.17548603C>T	ExAC,gnomAD
rs1371209311	p.Gly1127Ser	missense variant	-	NC_000022.11:g.17548606G>A	TOPMed,gnomAD
rs777432282	p.Thr1129Met	missense variant	-	NC_000022.11:g.17548613C>T	ExAC,gnomAD
rs1234088205	p.Thr1129Ser	missense variant	-	NC_000022.11:g.17548612A>T	gnomAD
rs757663874	p.Gly1131Asp	missense variant	-	NC_000022.11:g.17548619G>A	ExAC,gnomAD
rs1196861126	p.Gly1131Ser	missense variant	-	NC_000022.11:g.17548618G>A	gnomAD
rs1392159581	p.Thr1132Ser	missense variant	-	NC_000022.11:g.17548622C>G	TOPMed
rs376045788	p.Phe1136Val	missense variant	-	NC_000022.11:g.17548633T>G	ESP,ExAC,TOPMed,gnomAD
rs1215564397	p.Pro1137Ser	missense variant	-	NC_000022.11:g.17548636C>T	gnomAD
rs200495617	p.Pro1138Leu	missense variant	-	NC_000022.11:g.17548640C>T	ExAC,TOPMed,gnomAD
rs1034092390	p.Pro1138Ala	missense variant	-	NC_000022.11:g.17548639C>G	TOPMed,gnomAD
rs200495617	p.Pro1138Arg	missense variant	-	NC_000022.11:g.17548640C>G	ExAC,TOPMed,gnomAD
rs1375701699	p.Leu1139Val	missense variant	-	NC_000022.11:g.17548642C>G	gnomAD
rs1168458563	p.Tyr1140Cys	missense variant	-	NC_000022.11:g.17548646A>G	gnomAD
NCI-TCGA novel	p.Tyr1140His	missense variant	-	NC_000022.11:g.17548645T>C	NCI-TCGA
rs768952503	p.Met1141Ile	missense variant	-	NC_000022.11:g.17548650G>A	ExAC,gnomAD
rs183197311	p.Met1141Val	missense variant	-	NC_000022.11:g.17548648A>G	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly1143Ala	missense variant	-	NC_000022.11:g.17548655G>C	NCI-TCGA
NCI-TCGA novel	p.Glu1145Ter	stop gained	-	NC_000022.11:g.17548660G>T	NCI-TCGA
rs760515905	p.Pro1147Arg	missense variant	-	NC_000022.11:g.17548667C>G	ExAC,TOPMed,gnomAD
rs760515905	p.Pro1147Leu	missense variant	-	NC_000022.11:g.17548667C>T	ExAC,TOPMed,gnomAD
rs374477111	p.Ala1150Gly	missense variant	-	NC_000022.11:g.17548676C>G	ESP,ExAC,gnomAD
rs759463259	p.His1152Tyr	missense variant	-	NC_000022.11:g.17548681C>T	ExAC,gnomAD
rs765095064	p.His1154Tyr	missense variant	-	NC_000022.11:g.17548687C>T	ExAC,gnomAD
rs752214014	p.His1154Leu	missense variant	-	NC_000022.11:g.17548688A>T	ExAC,gnomAD
rs762469533	p.Ile1155Val	missense variant	-	NC_000022.11:g.17548690A>G	ExAC,gnomAD
COSM3552005	p.Pro1157Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17548697C>T	NCI-TCGA Cosmic
rs763711455	p.Pro1157Ala	missense variant	-	NC_000022.11:g.17548696C>G	ExAC,gnomAD
rs533399275	p.Gly1158Asp	missense variant	-	NC_000022.11:g.17548700G>A	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Gly1158Cys	missense variant	-	NC_000022.11:g.17548699G>T	NCI-TCGA
rs767982645	p.Gly1161Val	missense variant	-	NC_000022.11:g.17548709G>T	ExAC,TOPMed,gnomAD
rs767982645	p.Gly1161Asp	missense variant	-	NC_000022.11:g.17548709G>A	ExAC,TOPMed,gnomAD
rs920711557	p.Val1162Leu	missense variant	-	NC_000022.11:g.17548711G>T	TOPMed,gnomAD
rs929498170	p.Val1162Glu	missense variant	-	NC_000022.11:g.17548712T>A	TOPMed,gnomAD
rs1166513454	p.Gly1163Ser	missense variant	-	NC_000022.11:g.17548714G>A	gnomAD
rs531837211	p.Gly1163Ala	missense variant	-	NC_000022.11:g.17548715G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs909485083	p.Pro1164Ser	missense variant	-	NC_000022.11:g.17548717C>T	TOPMed
rs1460420258	p.Met1166Thr	missense variant	-	NC_000022.11:g.17548724T>C	gnomAD
rs780449415	p.Gly1167Ala	missense variant	-	NC_000022.11:g.17548727G>C	ExAC,TOPMed,gnomAD
rs1373203762	p.Gly1168Arg	missense variant	-	NC_000022.11:g.17548729G>A	TOPMed
rs568504117	p.Ser1170Cys	missense variant	-	NC_000022.11:g.17548736C>G	1000Genomes,ExAC,gnomAD
rs779273533	p.His1174Arg	missense variant	-	NC_000022.11:g.17548748A>G	ExAC,gnomAD
rs748443337	p.Pro1175Arg	missense variant	-	NC_000022.11:g.17548751C>G	ExAC,gnomAD
rs1308776217	p.His1177Gln	missense variant	-	NC_000022.11:g.17548758T>G	TOPMed
rs1235658052	p.Phe1178Val	missense variant	-	NC_000022.11:g.17548759T>G	gnomAD
rs1431703160	p.Pro1179Ser	missense variant	-	NC_000022.11:g.17548762C>T	TOPMed
rs554572738	p.Arg1181Gly	missense variant	-	NC_000022.11:g.17548768A>G	1000Genomes,ExAC,gnomAD
rs776423644	p.Arg1181Ser	missense variant	-	NC_000022.11:g.17548770G>T	ExAC,gnomAD
rs1039039190	p.Gly1182Ser	missense variant	-	NC_000022.11:g.17548771G>A	TOPMed
rs1041053657	p.Asn1186Lys	missense variant	-	NC_000022.11:g.17548785C>A	gnomAD
rs1351661471	p.His1189Leu	missense variant	-	NC_000022.11:g.17548793A>T	gnomAD
rs745683899	p.Gly1192Asp	missense variant	-	NC_000022.11:g.17548802G>A	ExAC,TOPMed,gnomAD
COSM1031856	p.Phe1193Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17548805T>G	NCI-TCGA Cosmic
rs1487293869	p.Pro1194Ser	missense variant	-	NC_000022.11:g.17548807C>T	gnomAD
rs1190004358	p.Pro1194Leu	missense variant	-	NC_000022.11:g.17548808C>T	gnomAD
rs1487293869	p.Pro1194Ala	missense variant	-	NC_000022.11:g.17548807C>G	gnomAD
rs777144786	p.Arg1195Pro	missense variant	-	NC_000022.11:g.17548811G>C	ExAC,TOPMed,gnomAD
rs568030540	p.Arg1195Trp	missense variant	-	NC_000022.11:g.17548810C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs777144786	p.Arg1195Gln	missense variant	-	NC_000022.11:g.17548811G>A	ExAC,TOPMed,gnomAD
COSM1484056	p.Arg1197Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17548816C>T	NCI-TCGA Cosmic
rs200418423	p.Arg1197His	missense variant	-	NC_000022.11:g.17548817G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs369170510	p.Pro1198Ser	missense variant	-	NC_000022.11:g.17548819C>T	ExAC,TOPMed,gnomAD
rs368003991	p.Pro1199Arg	missense variant	-	NC_000022.11:g.17548823C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs368003991	p.Pro1199Gln	missense variant	-	NC_000022.11:g.17548823C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1234552773	p.Pro1199Ser	missense variant	-	NC_000022.11:g.17548822C>T	gnomAD
rs766880283	p.Gly1201Arg	missense variant	-	NC_000022.11:g.17548828G>A	ExAC,gnomAD
rs200474238	p.Arg1203Ser	missense variant	-	NC_000022.11:g.17548836G>T	ExAC,gnomAD
NCI-TCGA novel	p.Tyr1204Ter	stop gained	-	NC_000022.11:g.17548839T>G	NCI-TCGA
rs779081450	p.Ser1205Phe	missense variant	-	NC_000022.11:g.17548841C>T	ExAC,gnomAD
rs779081450	p.Ser1205Cys	missense variant	-	NC_000022.11:g.17548841C>G	ExAC,gnomAD
rs758608780	p.Tyr1206Ser	missense variant	-	NC_000022.11:g.17548844A>C	ExAC,gnomAD
rs745649897	p.His1207Pro	missense variant	-	NC_000022.11:g.17548847A>C	ExAC,gnomAD
rs546113280	p.His1207Asp	missense variant	-	NC_000022.11:g.17548846C>G	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.His1207Arg	missense variant	-	NC_000022.11:g.17548847A>G	NCI-TCGA
rs556528619	p.Pro1208Ser	missense variant	-	NC_000022.11:g.17548849C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs556528619	p.Pro1208Thr	missense variant	-	NC_000022.11:g.17548849C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs374388183	p.Pro1209Leu	missense variant	-	NC_000022.11:g.17548853C>T	ESP,ExAC,TOPMed,gnomAD
rs761342382	p.Pro1210Ser	missense variant	-	NC_000022.11:g.17548855C>T	ExAC,TOPMed,gnomAD
rs767178491	p.Pro1210Leu	missense variant	-	NC_000022.11:g.17548856C>T	ExAC,gnomAD
rs959811287	p.Tyr1214Asn	missense variant	-	NC_000022.11:g.17548867T>A	TOPMed
rs551944084	p.His1216Arg	missense variant	-	NC_000022.11:g.17548874A>G	gnomAD
rs377210122	p.Tyr1217His	missense variant	-	NC_000022.11:g.17548876T>C	ESP,ExAC,TOPMed,gnomAD
rs766712311	p.Gln1218Glu	missense variant	-	NC_000022.11:g.17548879C>G	ExAC,gnomAD
rs754271465	p.Gln1218Arg	missense variant	-	NC_000022.11:g.17548880A>G	ExAC,TOPMed,gnomAD
rs754271465	p.Gln1218Leu	missense variant	-	NC_000022.11:g.17548880A>T	ExAC,TOPMed,gnomAD
rs1375445153	p.Arg1219Gln	missense variant	-	NC_000022.11:g.17548883G>A	gnomAD
COSM4102437	p.Thr1220Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17548885A>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Tyr1222Cys	missense variant	-	NC_000022.11:g.17548892A>G	NCI-TCGA
rs760057860	p.Tyr1223Cys	missense variant	-	NC_000022.11:g.17548895A>G	ExAC,TOPMed,gnomAD
rs760057860	p.Tyr1223Phe	missense variant	-	NC_000022.11:g.17548895A>T	ExAC,TOPMed,gnomAD
rs765878345	p.Ala1224Ser	missense variant	-	NC_000022.11:g.17548897G>T	ExAC,gnomAD
rs765878345	p.Ala1224Pro	missense variant	-	NC_000022.11:g.17548897G>C	ExAC,gnomAD
rs765878345	p.Ala1224Thr	missense variant	-	NC_000022.11:g.17548897G>A	ExAC,gnomAD
rs369716151	p.Cys1225Ser	missense variant	-	NC_000022.11:g.17548901G>C	ESP,ExAC,TOPMed,gnomAD
rs758454312	p.Cys1225Arg	missense variant	-	NC_000022.11:g.17548900T>C	ExAC
rs369716151	p.Cys1225Tyr	missense variant	-	NC_000022.11:g.17548901G>A	ESP,ExAC,TOPMed,gnomAD
rs751791902	p.Pro1226Thr	missense variant	-	NC_000022.11:g.17548903C>A	ExAC,gnomAD
rs755921203	p.Ser1228Asn	missense variant	-	NC_000022.11:g.17548910G>A	ExAC,gnomAD
rs768539733	p.Phe1229Ser	missense variant	-	NC_000022.11:g.17548913T>C	ExAC,gnomAD
rs574102509	p.Phe1229Val	missense variant	-	NC_000022.11:g.17548912T>G	ExAC,TOPMed,gnomAD
rs574102509	p.Phe1229Leu	missense variant	-	NC_000022.11:g.17548912T>C	ExAC,TOPMed,gnomAD
rs1480677010	p.Ser1230Ala	missense variant	-	NC_000022.11:g.17548915T>G	gnomAD
rs539811804	p.Asp1231Glu	missense variant	-	NC_000022.11:g.17548920C>G	ExAC,TOPMed,gnomAD
rs201661747	p.Asp1231Val	missense variant	-	NC_000022.11:g.17548919A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs562131493	p.Trp1232Cys	missense variant	-	NC_000022.11:g.17548923G>T	1000Genomes
rs1455305012	p.Gln1233Arg	missense variant	-	NC_000022.11:g.17548925A>G	gnomAD
rs771549943	p.Arg1234Ile	missense variant	-	NC_000022.11:g.17548928G>T	ExAC,gnomAD
rs772905660	p.Pro1235Ala	missense variant	-	NC_000022.11:g.17548930C>G	ExAC,TOPMed,gnomAD
rs772905660	p.Pro1235Ser	missense variant	-	NC_000022.11:g.17548930C>T	ExAC,TOPMed,gnomAD
rs375414804	p.Pro1235Arg	missense variant	-	NC_000022.11:g.17548931C>G	ESP,ExAC,TOPMed,gnomAD
rs770624477	p.Pro1238Leu	missense variant	-	NC_000022.11:g.17548940C>T	ExAC,gnomAD
rs1355553336	p.Ser1241Cys	missense variant	-	NC_000022.11:g.17548948A>T	TOPMed,gnomAD
rs1355553336	p.Ser1241Gly	missense variant	-	NC_000022.11:g.17548948A>G	TOPMed,gnomAD
rs527746223	p.Ser1241Asn	missense variant	-	NC_000022.11:g.17548949G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs760004505	p.Ser1243Arg	missense variant	-	NC_000022.11:g.17548956C>G	ExAC,TOPMed,gnomAD
rs760004505	p.Ser1243Arg	missense variant	-	NC_000022.11:g.17548956C>A	ExAC,TOPMed,gnomAD
rs763080661	p.Gly1244Arg	missense variant	-	NC_000022.11:g.17548957G>A	ExAC,TOPMed,gnomAD
COSM3552009	p.Pro1246Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17548964C>A	NCI-TCGA Cosmic
rs1366684764	p.Pro1246Ser	missense variant	-	NC_000022.11:g.17548963C>T	gnomAD
rs185630123	p.Pro1246Leu	missense variant	-	NC_000022.11:g.17548964C>T	1000Genomes,ExAC,gnomAD
rs560216294	p.Ala1247Ser	missense variant	-	NC_000022.11:g.17548966G>T	ExAC,TOPMed,gnomAD
COSM3552011	p.Pro1251Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17548979C>T	NCI-TCGA Cosmic
rs1322502713	p.Pro1251Arg	missense variant	-	NC_000022.11:g.17548979C>G	TOPMed
rs199780601	p.Pro1252Arg	missense variant	-	NC_000022.11:g.17548982C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs199780601	p.Pro1252Leu	missense variant	-	NC_000022.11:g.17548982C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs199780601	p.Pro1252Gln	missense variant	-	NC_000022.11:g.17548982C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs748094620	p.Pro1252Thr	missense variant	-	NC_000022.11:g.17548981C>A	ExAC,gnomAD
rs200293030	p.Arg1254Ser	missense variant	-	NC_000022.11:g.17548989G>T	ESP,ExAC,TOPMed,gnomAD
rs770661461	p.Arg1254Gly	missense variant	-	NC_000022.11:g.17548987A>G	ExAC,gnomAD
rs1188591297	p.Ser1255Phe	missense variant	-	NC_000022.11:g.17548991C>T	gnomAD
rs1188591297	p.Ser1255Cys	missense variant	-	NC_000022.11:g.17548991C>G	gnomAD
rs770346784	p.Leu1256His	missense variant	-	NC_000022.11:g.17548994T>A	ExAC,gnomAD
NCI-TCGA novel	p.Ser1258Leu	missense variant	-	NC_000022.11:g.17549000C>T	NCI-TCGA
rs1461993237	p.Lys1260Glu	missense variant	-	NC_000022.11:g.17549005A>G	gnomAD
rs764665700	p.Asn1261Lys	missense variant	-	NC_000022.11:g.17549010T>A	ExAC,TOPMed,gnomAD
rs1434101865	p.Met1263Val	missense variant	-	NC_000022.11:g.17549014A>G	gnomAD
rs1290405057	p.Met1263Ile	missense variant	-	NC_000022.11:g.17549016G>A	gnomAD
rs201121617	p.Ala1264Thr	missense variant	-	NC_000022.11:g.17549017G>A	ESP,ExAC,TOPMed,gnomAD
rs1289782664	p.Ser1265Thr	missense variant	-	NC_000022.11:g.17549021G>C	TOPMed
rs754756745	p.Ser1265Gly	missense variant	-	NC_000022.11:g.17549020A>G	ExAC,TOPMed,gnomAD
rs764954759	p.Gln1267Pro	missense variant	-	NC_000022.11:g.17549027A>C	ExAC,TOPMed,gnomAD
rs1348919231	p.Asn1273Tyr	missense variant	-	NC_000022.11:g.17549044A>T	TOPMed,gnomAD
rs758232907	p.Ala1275Ser	missense variant	-	NC_000022.11:g.17549050G>T	ExAC,TOPMed,gnomAD
rs1488278425	p.Thr1277Asn	missense variant	-	NC_000022.11:g.17549057C>A	gnomAD
rs1488278425	p.Thr1277Ile	missense variant	-	NC_000022.11:g.17549057C>T	gnomAD
COSM3842145	p.Ser1278Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17549060C>A	NCI-TCGA Cosmic
rs1192165901	p.Ser1278Phe	missense variant	-	NC_000022.11:g.17549060C>T	gnomAD
rs1192165901	p.Ser1278Phe	missense variant	-	NC_000022.11:g.17549060C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro1279Ser	missense variant	-	NC_000022.11:g.17549062C>T	NCI-TCGA
rs373544152	p.Arg1281His	missense variant	-	NC_000022.11:g.17549069G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs199712744	p.Arg1281Cys	missense variant	-	NC_000022.11:g.17549068C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1255571248	p.Asp1283Glu	missense variant	-	NC_000022.11:g.17549076T>G	gnomAD
rs780984393	p.Ala1286Ser	missense variant	-	NC_000022.11:g.17549083G>T	ExAC,gnomAD
rs745572342	p.Ala1287Gly	missense variant	-	NC_000022.11:g.17549087C>G	ExAC,gnomAD
rs556155269	p.Lys1288Glu	missense variant	-	NC_000022.11:g.17549089A>G	gnomAD
rs1345585364	p.Val1289Ile	missense variant	-	NC_000022.11:g.17549092G>A	gnomAD
rs769580221	p.Asp1292Asn	missense variant	-	NC_000022.11:g.17549101G>A	ExAC,gnomAD
rs141354988	p.Gly1293Arg	missense variant	-	NC_000022.11:g.17549104G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs768994928	p.Gly1297Asp	missense variant	-	NC_000022.11:g.17549117G>A	ExAC,gnomAD
rs376422746	p.Pro1298Ser	missense variant	-	NC_000022.11:g.17549119C>T	ESP,TOPMed,gnomAD
rs774969091	p.Glu1299Lys	missense variant	-	NC_000022.11:g.17549122G>A	ExAC,TOPMed,gnomAD
rs761849356	p.Lys1302Asn	missense variant	-	NC_000022.11:g.17549133G>C	ExAC,gnomAD
rs370954909	p.Leu1303Pro	missense variant	-	NC_000022.11:g.17549135T>C	ESP,ExAC,TOPMed,gnomAD
rs1214829576	p.Glu1305Lys	missense variant	-	NC_000022.11:g.17549140G>A	TOPMed,gnomAD
rs773292966	p.Met1307Val	missense variant	-	NC_000022.11:g.17549146A>G	ExAC,gnomAD
rs1486281208	p.Pro1310Leu	missense variant	-	NC_000022.11:g.17549156C>T	gnomAD
NCI-TCGA novel	p.Glu1311Gln	missense variant	-	NC_000022.11:g.17549158G>C	NCI-TCGA
NCI-TCGA novel	p.Glu1315Gln	missense variant	-	NC_000022.11:g.17549170G>C	NCI-TCGA
NCI-TCGA novel	p.Leu1317Ter	frameshift	-	NC_000022.11:g.17549173T>-	NCI-TCGA
rs1235781204	p.Asn1321Ser	missense variant	-	NC_000022.11:g.17549189A>G	gnomAD
COSM1484058	p.His1322Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17549191C>A	NCI-TCGA Cosmic
COSM4838755	p.Asn1323Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17549194A>G	NCI-TCGA Cosmic
rs897079322	p.Ala1324Thr	missense variant	-	NC_000022.11:g.17549197G>A	TOPMed
rs897079322	p.Ala1324Thr	missense variant	-	NC_000022.11:g.17549197G>A	NCI-TCGA Cosmic
rs752389394	p.Ala1325Val	missense variant	-	NC_000022.11:g.17549201C>T	ExAC,gnomAD
rs763909421	p.Lys1327Arg	missense variant	-	NC_000022.11:g.17549207A>G	ExAC,gnomAD
rs756812363	p.Arg1328Gln	missense variant	-	NC_000022.11:g.17549210G>A	ExAC,gnomAD
rs751578696	p.Arg1328Trp	missense variant	-	NC_000022.11:g.17549209C>T	NCI-TCGA
rs751578696	p.Arg1328Trp	missense variant	-	NC_000022.11:g.17549209C>T	ExAC,TOPMed,gnomAD
rs1204494649	p.Ser1330Asn	missense variant	-	NC_000022.11:g.17549216G>A	TOPMed
NCI-TCGA novel	p.Ser1331Leu	missense variant	-	NC_000022.11:g.17549219C>T	NCI-TCGA
rs1231826643	p.Leu1332Trp	missense variant	-	NC_000022.11:g.17549222T>G	TOPMed
NCI-TCGA novel	p.Ser1333Pro	missense variant	-	NC_000022.11:g.17549224T>C	NCI-TCGA
rs1279784247	p.Ser1335Arg	missense variant	-	NC_000022.11:g.17549232C>G	gnomAD
rs1238510110	p.Glu1336Gly	missense variant	-	NC_000022.11:g.17549234A>G	gnomAD
rs1375676607	p.Glu1336Lys	missense variant	-	NC_000022.11:g.17549233G>A	TOPMed,gnomAD
rs61735058	p.Leu1338Pro	missense variant	-	NC_000022.11:g.17549240T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs749594416	p.Tyr1339Phe	missense variant	-	NC_000022.11:g.17549243A>T	ExAC,gnomAD
rs749594416	p.Tyr1339Cys	missense variant	-	NC_000022.11:g.17549243A>G	ExAC,gnomAD
rs769104481	p.Thr1341Ala	missense variant	-	NC_000022.11:g.17549248A>G	ExAC,gnomAD
rs922228355	p.Thr1341Ile	missense variant	-	NC_000022.11:g.17549249C>T	TOPMed,gnomAD
rs769104481	p.Thr1341Pro	missense variant	-	NC_000022.11:g.17549248A>C	ExAC,gnomAD
rs887806595	p.Pro1343Leu	missense variant	-	NC_000022.11:g.17549255C>T	gnomAD
rs887806595	p.Pro1343Gln	missense variant	-	NC_000022.11:g.17549255C>A	gnomAD
rs1176589220	p.Pro1344Ser	missense variant	-	NC_000022.11:g.17549257C>T	gnomAD
rs1478206149	p.Ser1346Asn	missense variant	-	NC_000022.11:g.17549264G>A	TOPMed,gnomAD
rs1171958252	p.Ser1347Leu	missense variant	-	NC_000022.11:g.17549267C>T	gnomAD
rs748597487	p.Gly1348Glu	missense variant	-	NC_000022.11:g.17549270G>A	ExAC,gnomAD
rs1422904426	p.Gly1348Arg	missense variant	-	NC_000022.11:g.17549269G>A	gnomAD
rs772574374	p.Gly1350Arg	missense variant	-	NC_000022.11:g.17549275G>A	ExAC,gnomAD
COSM1647498	p.Ser1353Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.17549285C>A	NCI-TCGA Cosmic
rs1444092068	p.Ser1353Leu	missense variant	-	NC_000022.11:g.17549285C>T	gnomAD
rs1399142285	p.Ser1353Pro	missense variant	-	NC_000022.11:g.17549284T>C	TOPMed,gnomAD
rs1444092068	p.Ser1353Leu	missense variant	-	NC_000022.11:g.17549285C>T	NCI-TCGA Cosmic
rs1273599103	p.Pro1358Ser	missense variant	-	NC_000022.11:g.17549299C>T	gnomAD
rs987519738	p.Ser1360Gly	missense variant	-	NC_000022.11:g.17549305A>G	TOPMed,gnomAD
rs987519738	p.Ser1360Cys	missense variant	-	NC_000022.11:g.17549305A>T	TOPMed,gnomAD
NCI-TCGA novel	p.Ser1360Asn	missense variant	-	NC_000022.11:g.17549306G>A	NCI-TCGA
rs1372165990	p.Val1361Met	missense variant	-	NC_000022.11:g.17549308G>A	TOPMed,gnomAD
rs370812487	p.Met1362Ile	missense variant	-	NC_000022.11:g.17549313G>T	ESP,ExAC,TOPMed,gnomAD
rs776956929	p.Leu1363Pro	missense variant	-	NC_000022.11:g.17549315T>C	ExAC,gnomAD
rs762655275	p.Gln1364His	missense variant	-	NC_000022.11:g.17549319G>T	ExAC,gnomAD
rs764004218	p.Thr1365Met	missense variant	-	NC_000022.11:g.17549321C>T	ExAC,gnomAD
rs764004218	p.Thr1365Met	missense variant	-	NC_000022.11:g.17549321C>T	NCI-TCGA,NCI-TCGA Cosmic
rs1451980499	p.Gly1366Glu	missense variant	-	NC_000022.11:g.17549324G>A	gnomAD
COSM3912357	p.Pro1368Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17549329C>T	NCI-TCGA Cosmic
rs373901873	p.Tyr1369Phe	missense variant	-	NC_000022.11:g.17549333A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs373901873	p.Tyr1369Ser	missense variant	-	NC_000022.11:g.17549333A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs373901873	p.Tyr1369Cys	missense variant	-	NC_000022.11:g.17549333A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1463566616	p.Pro1371Leu	missense variant	-	NC_000022.11:g.17549339C>T	gnomAD
rs753592652	p.Pro1371Ser	missense variant	-	NC_000022.11:g.17549338C>T	ExAC,gnomAD
rs966965861	p.Arg1373Gln	missense variant	-	NC_000022.11:g.17549345G>A	NCI-TCGA Cosmic
rs367797204	p.Arg1373Trp	missense variant	-	NC_000022.11:g.17549344C>T	ESP,ExAC,TOPMed,gnomAD
rs966965861	p.Arg1373Gln	missense variant	-	NC_000022.11:g.17549345G>A	TOPMed,gnomAD
rs779270148	p.Pro1374Ser	missense variant	-	NC_000022.11:g.17549347C>T	ExAC,gnomAD
rs748544634	p.Pro1374Leu	missense variant	-	NC_000022.11:g.17549348C>T	ExAC,TOPMed,gnomAD
rs747064235	p.Ser1376Gly	missense variant	-	NC_000022.11:g.17549353A>G	ExAC,gnomAD
rs1316177455	p.Arg1381Gly	missense variant	-	NC_000022.11:g.17549368A>G	TOPMed,gnomAD
COSM5075811	p.Tyr1383Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17549375A>T	NCI-TCGA Cosmic
rs776700328	p.Tyr1383Cys	missense variant	-	NC_000022.11:g.17549375A>G	ExAC,gnomAD
COSM3552015	p.Ser1385Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17549381C>T	NCI-TCGA Cosmic
rs371599329	p.Ser1385Thr	missense variant	-	NC_000022.11:g.17549380T>A	ESP,ExAC,TOPMed,gnomAD
rs576373100	p.Ser1385Cys	missense variant	-	NC_000022.11:g.17549381C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1448463762	p.Val1387Met	missense variant	-	NC_000022.11:g.17549386G>A	gnomAD
rs1310725114	p.Ala1388Asp	missense variant	-	NC_000022.11:g.17549390C>A	TOPMed
rs895744714	p.Ala1388Thr	missense variant	-	NC_000022.11:g.17549389G>A	TOPMed,gnomAD
COSM6161426	p.Ala1389Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17549392G>T	NCI-TCGA Cosmic
rs1446883743	p.Ala1389Thr	missense variant	-	NC_000022.11:g.17549392G>A	TOPMed
rs1476560676	p.Ala1389Gly	missense variant	-	NC_000022.11:g.17549393C>G	gnomAD
rs1446883743	p.Ala1389Thr	missense variant	-	NC_000022.11:g.17549392G>A	NCI-TCGA Cosmic
rs376337845	p.Leu1390Phe	missense variant	-	NC_000022.11:g.17549395C>T	ESP,ExAC,TOPMed,gnomAD
rs376337845	p.Leu1390Phe	missense variant	-	NC_000022.11:g.17549395C>T	NCI-TCGA,NCI-TCGA Cosmic
rs1457070970	p.Pro1391Ser	missense variant	-	NC_000022.11:g.17549398C>T	gnomAD
rs886856170	p.His1394Gln	missense variant	-	NC_000022.11:g.17549409C>A	TOPMed,gnomAD
NCI-TCGA novel	p.His1394Leu	missense variant	-	NC_000022.11:g.17549408A>T	NCI-TCGA
rs1005291382	p.Ala1397Val	missense variant	-	NC_000022.11:g.17549417C>T	TOPMed
rs760099100	p.Ala1397Pro	missense variant	-	NC_000022.11:g.17549416G>C	ExAC,TOPMed,gnomAD
rs760099100	p.Ala1397Thr	missense variant	-	NC_000022.11:g.17549416G>A	ExAC,TOPMed,gnomAD
rs765858692	p.Pro1400Thr	missense variant	-	NC_000022.11:g.17549425C>A	ExAC,gnomAD
rs199653481	p.Asn1401Asp	missense variant	-	NC_000022.11:g.17549428A>G	ESP,ExAC,TOPMed,gnomAD
rs753040424	p.Gly1402Asp	missense variant	-	NC_000022.11:g.17549432G>A	ExAC,gnomAD
rs778560536	p.Gly1402Ser	missense variant	-	NC_000022.11:g.17549431G>A	ExAC,TOPMed,gnomAD
rs778560536	p.Gly1402Ser	missense variant	-	NC_000022.11:g.17549431G>A	NCI-TCGA
rs1036842182	p.Leu1403Phe	missense variant	-	NC_000022.11:g.17549434C>T	TOPMed
rs1445005578	p.Gln1405Arg	missense variant	-	NC_000022.11:g.17549441A>G	TOPMed
rs201289040	p.Gly1407Ser	missense variant	-	NC_000022.11:g.17549446G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs778252121	p.Pro1408Ser	missense variant	-	NC_000022.11:g.17549449C>T	ExAC,TOPMed,gnomAD
rs1331092102	p.Ile1409Val	missense variant	-	NC_000022.11:g.17549452A>G	TOPMed
rs1216993166	p.Tyr1410Phe	missense variant	-	NC_000022.11:g.17549456A>T	TOPMed,gnomAD
rs1216993166	p.Tyr1410Cys	missense variant	-	NC_000022.11:g.17549456A>G	TOPMed,gnomAD
rs747575846	p.Arg1411Cys	missense variant	-	NC_000022.11:g.17549458C>T	NCI-TCGA,NCI-TCGA Cosmic
rs555429495	p.Arg1411His	missense variant	-	NC_000022.11:g.17549459G>A	1000Genomes,ExAC,gnomAD
rs747575846	p.Arg1411Cys	missense variant	-	NC_000022.11:g.17549458C>T	ExAC,TOPMed,gnomAD
rs74478545	p.Glu1415Gly	missense variant	-	NC_000022.11:g.17549471A>G	TOPMed,gnomAD
rs1422680675	p.Gly1416Val	missense variant	-	NC_000022.11:g.17549474G>T	gnomAD
rs781261885	p.Leu1417Arg	missense variant	-	NC_000022.11:g.17549477T>G	ExAC,gnomAD
rs745963082	p.Val1423Ala	missense variant	-	NC_000022.11:g.17549495T>C	ExAC,TOPMed,gnomAD
rs1359228518	p.Met1424Ile	missense variant	-	NC_000022.11:g.17549499G>A	gnomAD
rs368285423	p.Met1424Val	missense variant	-	NC_000022.11:g.17549497A>G	ESP,ExAC,TOPMed,gnomAD
rs572451277	p.Met1425Ile	missense variant	-	NC_000022.11:g.17549502G>A	1000Genomes,ExAC,gnomAD
rs1303885505	p.Glu1426Lys	missense variant	-	NC_000022.11:g.17549503G>A	gnomAD
rs1303885505	p.Glu1426Ter	stop gained	-	NC_000022.11:g.17549503G>T	gnomAD
rs889696976	p.Gln1427Arg	missense variant	-	NC_000022.11:g.17549507A>G	TOPMed,gnomAD
COSM3842147	p.Arg1431Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17549519G>T	NCI-TCGA Cosmic
rs764067017	p.Gly1433Ala	missense variant	-	NC_000022.11:g.17549525G>C	ExAC,gnomAD
rs1309434147	p.Gly1433Arg	missense variant	-	NC_000022.11:g.17549524G>A	gnomAD
rs138071985	p.Ile1434Val	missense variant	-	NC_000022.11:g.17549527A>G	1000Genomes,gnomAD
rs1308225234	p.Arg1435Lys	missense variant	-	NC_000022.11:g.17549531G>A	gnomAD
rs1458274478	p.Arg1435Gly	missense variant	-	NC_000022.11:g.17549530A>G	TOPMed
rs372202363	p.Gly1436Glu	missense variant	-	NC_000022.11:g.17549534G>A	ESP,ExAC,TOPMed,gnomAD
rs766259622	p.Pro1437Thr	missense variant	-	NC_000022.11:g.17549536C>A	ExAC,TOPMed,gnomAD
rs776160800	p.Phe1438Ser	missense variant	-	NC_000022.11:g.17549540T>C	ExAC,gnomAD
rs757103102	p.Glu1440Ter	stop gained	-	NC_000022.11:g.17549545G>T	gnomAD
rs757103102	p.Glu1440Lys	missense variant	-	NC_000022.11:g.17549545G>A	gnomAD
rs1252311623	p.Met1441Ile	missense variant	-	NC_000022.11:g.17549550G>T	TOPMed,gnomAD
rs1252311623	p.Met1441Ile	missense variant	-	NC_000022.11:g.17549550G>A	TOPMed,gnomAD
rs759019713	p.Tyr1442His	missense variant	-	NC_000022.11:g.17549551T>C	ExAC,TOPMed,gnomAD
rs764840527	p.Tyr1442Ser	missense variant	-	NC_000022.11:g.17549552A>C	ExAC,TOPMed,gnomAD
rs752417080	p.Arg1443Ter	stop gained	-	NC_000022.11:g.17549554A>T	ExAC,TOPMed,gnomAD
rs758752683	p.Arg1443Ile	missense variant	-	NC_000022.11:g.17549555G>T	ExAC,TOPMed,gnomAD
rs1377499474	p.Pro1444Ala	missense variant	-	NC_000022.11:g.17549557C>G	gnomAD
rs1466244307	p.Pro1444Leu	missense variant	-	NC_000022.11:g.17549558C>T	TOPMed
rs142851999	p.Ser1445Leu	missense variant	-	NC_000022.11:g.17549561C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs780223716	p.Met1447Thr	missense variant	-	NC_000022.11:g.17552033T>C	ExAC,gnomAD
rs1353024710	p.Gln1448Pro	missense variant	-	NC_000022.11:g.17552036A>C	gnomAD
rs1479951265	p.His1450Tyr	missense variant	-	NC_000022.11:g.17552041C>T	TOPMed
rs1320302167	p.Pro1451Leu	missense variant	-	NC_000022.11:g.17552045C>T	TOPMed,gnomAD
rs1288657320	p.Pro1451Thr	missense variant	-	NC_000022.11:g.17552044C>A	gnomAD
rs368452369	p.Gln1453His	missense variant	-	NC_000022.11:g.17552052G>T	ExAC,gnomAD
rs938553668	p.Ser1454Leu	missense variant	-	NC_000022.11:g.17552054C>T	TOPMed,gnomAD
rs1223193269	p.Gln1455Glu	missense variant	-	NC_000022.11:g.17552056C>G	TOPMed
rs1239306811	p.Ala1456Ser	missense variant	-	NC_000022.11:g.17552059G>T	gnomAD
rs536749791	p.Ser1457Leu	missense variant	-	NC_000022.11:g.17552063C>T	1000Genomes,ExAC,gnomAD
rs200761402	p.Lys1460Glu	missense variant	-	NC_000022.11:g.17552071A>G	ExAC,gnomAD
rs374889016	p.Pro1462Ala	missense variant	-	NC_000022.11:g.17552077C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs767828651	p.Pro1462Leu	missense variant	-	NC_000022.11:g.17552078C>T	ExAC
rs374889016	p.Pro1462Ser	missense variant	-	NC_000022.11:g.17552077C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1038790936	p.Thr1463Ile	missense variant	-	NC_000022.11:g.17552081C>T	gnomAD
rs750813328	p.Thr1466Pro	missense variant	-	NC_000022.11:g.17552089A>C	ExAC,gnomAD
rs750813328	p.Thr1466Ala	missense variant	-	NC_000022.11:g.17552089A>G	ExAC,gnomAD
rs1283250524	p.Glu1469Asp	missense variant	-	NC_000022.11:g.17552100G>C	gnomAD
rs753946031	p.Glu1469Lys	missense variant	-	NC_000022.11:g.17552098G>A	ExAC,TOPMed,gnomAD
rs755151173	p.Glu1470Asp	missense variant	-	NC_000022.11:g.17552103G>T	ExAC,TOPMed,gnomAD
rs779194271	p.Val1471Met	missense variant	-	NC_000022.11:g.17552104G>A	ExAC,gnomAD
rs1216064222	p.Val1471Ala	missense variant	-	NC_000022.11:g.17552105T>C	gnomAD
rs181553013	p.Pro1472Leu	missense variant	-	NC_000022.11:g.17552108C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs745689692	p.Pro1473Leu	missense variant	-	NC_000022.11:g.17552111C>T	ExAC,gnomAD
rs1341077800	p.His1474Tyr	missense variant	-	NC_000022.11:g.17552113C>T	TOPMed,gnomAD
rs559217085	p.Pro1476Ser	missense variant	-	NC_000022.11:g.17552119C>T	1000Genomes,ExAC,gnomAD
rs559217085	p.Pro1476Ala	missense variant	-	NC_000022.11:g.17552119C>G	1000Genomes,ExAC,gnomAD
rs200210475	p.Pro1477Ser	missense variant	-	NC_000022.11:g.17552122C>T	ESP,ExAC,TOPMed,gnomAD
rs1199876485	p.Thr1478Ile	missense variant	-	NC_000022.11:g.17552126C>T	TOPMed
rs774038355	p.Thr1478Ala	missense variant	-	NC_000022.11:g.17552125A>G	ExAC
rs1180325318	p.Leu1479Phe	missense variant	-	NC_000022.11:g.17552128C>T	gnomAD
COSM5393121	p.Pro1480Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17552131C>T	NCI-TCGA Cosmic
rs200479711	p.Pro1480His	missense variant	-	NC_000022.11:g.17552132C>A	ESP,ExAC,TOPMed,gnomAD
rs200479711	p.Pro1480Leu	missense variant	-	NC_000022.11:g.17552132C>T	ESP,ExAC,TOPMed,gnomAD
COSM1307935	p.Asp1482His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17552137G>C	NCI-TCGA Cosmic
rs1156753166	p.Asp1482Tyr	missense variant	-	NC_000022.11:g.17552137G>T	gnomAD
rs1436415386	p.Ser1484Asn	missense variant	-	NC_000022.11:g.17552836G>A	gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0002902	Anencephaly	disease	MGD
C0011999	Diastematomyelia	disease	CTD_human
C0012236	DiGeorge Syndrome	disease	BEFREE
C0027794	Neural Tube Defects	group	BEFREE;CTD_human
C0027806	Neurenteric Cyst	disease	CTD_human
C0080218	Tethered Cord Syndrome	disease	CTD_human
C0152234	Iniencephaly	disease	CTD_human
C0152426	Craniorachischisis	disease	CTD_human
C0265493	Cat eye syndrome	disease	BEFREE
C0266453	Exencephaly	disease	BEFREE;CTD_human
C0344479	Spinal Cord Myelodysplasia	disease	CTD_human
C0702169	Acrania	disease	CTD_human

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence

GO:Biological Process

GO ID	GO Term	Evidence
GO:0006309	apoptotic DNA fragmentation	TAS
GO:0007010	cytoskeleton organization	NAS
GO:0016192	vesicle-mediated transport	NAS
GO:0043044	ATP-dependent chromatin remodeling	IDA
GO:0061640	cytoskeleton-dependent cytokinesis	NAS
GO:0097194	execution phase of apoptosis	IDA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005634	nucleus	IDA
GO:0090537	CERF complex	IDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
C029790	2,2',3',4,4',5-hexachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of CECR2 mRNA	25510870
C070055	2,3',4,4',5-pentachlorobiphenyl	2,3',4,4',5-pentachlorobiphenyl results in increased expression of CECR2 mRNA	31388691
C081766	2,4,4'-trichlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of CECR2 mRNA	25510870
C014024	2,4,5,2',4',5'-hexachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of CECR2 mRNA	25510870
C009828	2,4,5,2',5'-pentachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of CECR2 mRNA	25510870
C009407	2,5,2',5'-tetrachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of CECR2 mRNA	25510870
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of CECR2 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of CECR2 mRNA	27188386
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of CECR2 intron	30157460
C029753	aflatoxin B2	aflatoxin B2 results in increased methylation of CECR2 intron	30157460
D000661	Amphetamine	Amphetamine results in decreased expression of CECR2 mRNA	30779732
D001280	Atrazine	Atrazine results in increased expression of CECR2 mRNA	25929836
D001564	Benzo(a)pyrene	Benzo(a)pyrene affects the methylation of CECR2 intron	30157460
C026487	benzo(e)pyrene	benzo(e)pyrene results in increased methylation of CECR2 intron	30157460
C006780	bisphenol A	bisphenol A affects the expression of CECR2 mRNA	30248606
C006780	bisphenol A	bisphenol A results in increased methylation of CECR2 intron	30906313
C006780	bisphenol A	bisphenol A results in decreased methylation of CECR2 promoter	27312807
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased expression of CECR2 mRNA	20938992
D002990	Clobetasol	Clobetasol results in decreased expression of CECR2 mRNA	27462272
D004051	Diethylhexyl Phthalate	Diethylhexyl Phthalate results in increased expression of CECR2 protein	31163220
C516138	dorsomorphin	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of CECR2 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of CECR2 mRNA	27188386
D004317	Doxorubicin	Doxorubicin results in decreased expression of CECR2 mRNA	29803840
D000431	Ethanol	Ethanol results in increased expression of CECR2 mRNA	30319688
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of CECR2 mRNA	23129252
D017313	Fenretinide	Fenretinide results in decreased expression of CECR2 mRNA	28973697
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased expression of CECR2 mRNA	20938992
D015759	Ionomycin	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in decreased expression of CECR2 mRNA	25613284
D008701	Methapyrilene	Methapyrilene results in increased methylation of CECR2 intron	30157460
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased expression of CECR2 mRNA	20938992
C410127	PCB 180	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of CECR2 mRNA	25510870
D010416	Pentachlorophenol	Pentachlorophenol results in decreased expression of CECR2 mRNA	23892564
D010634	Phenobarbital	Phenobarbital affects the expression of CECR2 mRNA	23091169
D010662	Phenylmercuric Acetate	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of CECR2 mRNA	27188386
C027373	potassium chromate(VI)	potassium chromate(VI) results in increased expression of CECR2 mRNA	22714537
C005556	propionaldehyde	propionaldehyde results in decreased expression of CECR2 mRNA	26079696
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of CECR2 mRNA	26377647
D013755	Tetradecanoylphorbol Acetate	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in decreased expression of CECR2 mRNA	25613284
C012589	trichostatin A	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of CECR2 mRNA	27188386
C012589	trichostatin A	trichostatin A results in decreased expression of CECR2 mRNA	24935251
D014414	Tungsten	Tungsten results in decreased expression of CECR2 mRNA	30912803
D014635	Valproic Acid	Valproic Acid results in decreased expression of CECR2 mRNA	28001369

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0025	Alternative splicing
KW-0103	Bromodomain
KW-0156	Chromatin regulator
KW-0488	Methylation
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-1185	Reference proteome

Interpro

InterPro ID	InterPro Term
IPR001487	Bromodomain
IPR036427	Bromodomain-like_sf
IPR018359	Bromodomain_CS
IPR029614	CECR2

PROSITE

PROSITE ID	PROSITE Term
PS00633	BROMODOMAIN_1
PS50014	BROMODOMAIN_2

Pfam

Pfam ID	Pfam Term
PF00439	Bromodomain

Gene: CECR2

Basic information

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction