CleftGeneDB-Search

Gene: CR1

Basic information

Tag	Content
Uniprot ID	P17927; Q16744; Q16745; Q5SR43; Q5SR45; Q9UQV2;
Entrez ID	1378
Genbank protein ID	AAA52298.1; CAA68755.1; AAB60695.1; AAB60694.1; CAA32541.1; AAA52299.1; AAA52297.1; CAA28933.1;
Genbank nucleotide ID	NM_000651.4; NM_000573.3;
Ensembl protein ID	ENSP00000356018; ENSP00000383744; ENSP00000356020;
Ensembl nucleotide ID	ENSG00000203710
Gene name	Complement receptor type 1
Gene symbol	CR1
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Manually collected
Reference	2309700
Functional description	Membrane immune adherence receptor that plays a critical role in the capture and clearance of complement-opsonized pathogens by erythrocytes and monocytes/macrophages (PubMed:2963069). Mediates the binding by these cells of particles and immune complexes that have activated complement to eliminate them from the circulation (PubMed:2963069). Acts also in the inhibition of spontaneous complement activation by impairing the formation and function of the alternative and classical pathway C3/C5 convertases, and by serving as a cofactor for the cleavage by factor I of C3b to iC3b, C3c and C3d,g, and of C4b to C4c and C4d (PubMed:2972794, PubMed:8175757). Plays also a role in immune regulation by contributing, upon ligand binding, to the generation of regulatory T cells from activated helper T cells (PubMed:25742728).
Sequence	MGASSPRSPE PVGPPAPGLP FCCGGSLLAV VVLLALPVAW GQCNAPEWLP FARPTNLTDE 60 FEFPIGTYLN YECRPGYSGR PFSIICLKNS VWTGAKDRCR RKSCRNPPDP VNGMVHVIKG 120 IQFGSQIKYS CTKGYRLIGS SSATCIISGD TVIWDNETPI CDRIPCGLPP TITNGDFIST 180 NRENFHYGSV VTYRCNPGSG GRKVFELVGE PSIYCTSNDD QVGIWSGPAP QCIIPNKCTP 240 PNVENGILVS DNRSLFSLNE VVEFRCQPGF VMKGPRRVKC QALNKWEPEL PSCSRVCQPP 300 PDVLHAERTQ RDKDNFSPGQ EVFYSCEPGY DLRGAASMRC TPQGDWSPAA PTCEVKSCDD 360 FMGQLLNGRV LFPVNLQLGA KVDFVCDEGF QLKGSSASYC VLAGMESLWN SSVPVCEQIF 420 CPSPPVIPNG RHTGKPLEVF PFGKTVNYTC DPHPDRGTSF DLIGESTIRC TSDPQGNGVW 480 SSPAPRCGIL GHCQAPDHFL FAKLKTQTNA SDFPIGTSLK YECRPEYYGR PFSITCLDNL 540 VWSSPKDVCK RKSCKTPPDP VNGMVHVITD IQVGSRINYS CTTGHRLIGH SSAECILSGN 600 AAHWSTKPPI CQRIPCGLPP TIANGDFIST NRENFHYGSV VTYRCNPGSG GRKVFELVGE 660 PSIYCTSNDD QVGIWSGPAP QCIIPNKCTP PNVENGILVS DNRSLFSLNE VVEFRCQPGF 720 VMKGPRRVKC QALNKWEPEL PSCSRVCQPP PDVLHAERTQ RDKDNFSPGQ EVFYSCEPGY 780 DLRGAASMRC TPQGDWSPAA PTCEVKSCDD FMGQLLNGRV LFPVNLQLGA KVDFVCDEGF 840 QLKGSSASYC VLAGMESLWN SSVPVCEQIF CPSPPVIPNG RHTGKPLEVF PFGKAVNYTC 900 DPHPDRGTSF DLIGESTIRC TSDPQGNGVW SSPAPRCGIL GHCQAPDHFL FAKLKTQTNA 960 SDFPIGTSLK YECRPEYYGR PFSITCLDNL VWSSPKDVCK RKSCKTPPDP VNGMVHVITD 1020 IQVGSRINYS CTTGHRLIGH SSAECILSGN TAHWSTKPPI CQRIPCGLPP TIANGDFIST 1080 NRENFHYGSV VTYRCNLGSR GRKVFELVGE PSIYCTSNDD QVGIWSGPAP QCIIPNKCTP 1140 PNVENGILVS DNRSLFSLNE VVEFRCQPGF VMKGPRRVKC QALNKWEPEL PSCSRVCQPP 1200 PEILHGEHTP SHQDNFSPGQ EVFYSCEPGY DLRGAASLHC TPQGDWSPEA PRCAVKSCDD 1260 FLGQLPHGRV LFPLNLQLGA KVSFVCDEGF RLKGSSVSHC VLVGMRSLWN NSVPVCEHIF 1320 CPNPPAILNG RHTGTPSGDI PYGKEISYTC DPHPDRGMTF NLIGESTIRC TSDPHGNGVW 1380 SSPAPRCELS VRAGHCKTPE QFPFASPTIP INDFEFPVGT SLNYECRPGY FGKMFSISCL 1440 ENLVWSSVED NCRRKSCGPP PEPFNGMVHI NTDTQFGSTV NYSCNEGFRL IGSPSTTCLV 1500 SGNNVTWDKK APICEIISCE PPPTISNGDF YSNNRTSFHN GTVVTYQCHT GPDGEQLFEL 1560 VGERSIYCTS KDDQVGVWSS PPPRCISTNK CTAPEVENAI RVPGNRSFFS LTEIIRFRCQ 1620 PGFVMVGSHT VQCQTNGRWG PKLPHCSRVC QPPPEILHGE HTLSHQDNFS PGQEVFYSCE 1680 PSYDLRGAAS LHCTPQGDWS PEAPRCTVKS CDDFLGQLPH GRVLLPLNLQ LGAKVSFVCD 1740 EGFRLKGRSA SHCVLAGMKA LWNSSVPVCE QIFCPNPPAI LNGRHTGTPF GDIPYGKEIS 1800 YACDTHPDRG MTFNLIGESS IRCTSDPQGN GVWSSPAPRC ELSVPAACPH PPKIQNGHYI 1860 GGHVSLYLPG MTISYICDPG YLLVGKGFIF CTDQGIWSQL DHYCKEVNCS FPLFMNGISK 1920 ELEMKKVYHY GDYVTLKCED GYTLEGSPWS QCQADDRWDP PLAKCTSRTH DALIVGTLSG 1980 TIFFILLIIF LSWIILKHRK GNNAHENPKE VAIHLHSQGG SSVHPRTLQT NEENSRVLP 2039

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 information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

PDB ID
1GKG
1GKN
1GOP
1PPQ
2MCY
2MCZ
2Q7Z
5FO9
1GKN
2MCY
2MCZ

Protein disorder information

Orthologous information

There is no orthologous record for this gene !

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1179458153	p.Gly2Val	missense variant	-	NC_000001.11:g.207496272G>T	gnomAD
rs1422312923	p.Ala3Val	missense variant	-	NC_000001.11:g.207496275C>T	TOPMed
rs1438089128	p.Ala3Ser	missense variant	-	NC_000001.11:g.207496274G>T	gnomAD
rs1270698778	p.Ser5Ala	missense variant	-	NC_000001.11:g.207496280T>G	TOPMed,gnomAD
NCI-TCGA novel	p.Ser5Tyr	missense variant	-	NC_000001.11:g.207496281C>A	NCI-TCGA
NCI-TCGA novel	p.Arg7Ile	missense variant	-	NC_000001.11:g.207496287G>T	NCI-TCGA
rs1038479607	p.Arg7Gly	missense variant	-	NC_000001.11:g.207496286A>G	TOPMed
rs1251291603	p.Pro9Arg	missense variant	-	NC_000001.11:g.207496293C>G	TOPMed
COSM3864323	p.Pro11Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207496299C>T	NCI-TCGA Cosmic
rs781322624	p.Pro11Thr	missense variant	-	NC_000001.11:g.207496298C>A	ExAC,TOPMed,gnomAD
rs781322624	p.Pro11Ala	missense variant	-	NC_000001.11:g.207496298C>G	ExAC,TOPMed,gnomAD
rs372551774	p.Val12Ile	missense variant	-	NC_000001.11:g.207496301G>A	ESP,ExAC,TOPMed,gnomAD
rs1276701863	p.Gly13Arg	missense variant	-	NC_000001.11:g.207496304G>C	TOPMed
COSM1338413	p.Pro14Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207496308C>T	NCI-TCGA Cosmic
rs769828093	p.Pro14Gln	missense variant	-	NC_000001.11:g.207496308C>A	ExAC,TOPMed,gnomAD
rs775590306	p.Pro15Leu	missense variant	-	NC_000001.11:g.207496311C>T	ExAC,gnomAD
rs1402904259	p.Pro15Ser	missense variant	-	NC_000001.11:g.207496310C>T	gnomAD
rs774774612	p.Ala16Gly	missense variant	-	NC_000001.11:g.207496314C>G	ExAC,gnomAD
rs774774612	p.Ala16Glu	missense variant	-	NC_000001.11:g.207496314C>A	ExAC,gnomAD
rs369804986	p.Ala16Thr	missense variant	-	NC_000001.11:g.207496313G>A	ESP,ExAC,TOPMed,gnomAD
rs566717082	p.Pro17Arg	missense variant	-	NC_000001.11:g.207496317C>G	1000Genomes,ExAC,gnomAD
rs772948093	p.Pro17Ser	missense variant	-	NC_000001.11:g.207496316C>T	ExAC,gnomAD
rs1318306169	p.Gly18Ser	missense variant	-	NC_000001.11:g.207496319G>A	TOPMed,gnomAD
rs1197723622	p.Gly18Val	missense variant	-	NC_000001.11:g.207496320G>T	TOPMed,gnomAD
rs575513177	p.Leu19Phe	missense variant	-	NC_000001.11:g.207496322C>T	TOPMed
rs1255951917	p.Leu19His	missense variant	-	NC_000001.11:g.207496323T>A	gnomAD
rs199732885	p.Pro20Leu	missense variant	-	NC_000001.11:g.207496326C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1423387453	p.Phe21Leu	missense variant	-	NC_000001.11:g.207496330C>G	gnomAD
rs1186041714	p.Cys22Arg	missense variant	-	NC_000001.11:g.207496331T>C	gnomAD
rs752683886	p.Leu28Pro	missense variant	-	NC_000001.11:g.207496350T>C	ExAC,gnomAD
rs555401223	p.Ala29Thr	missense variant	-	NC_000001.11:g.207496352G>A	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Ala29Val	missense variant	-	NC_000001.11:g.207496353C>T	NCI-TCGA
rs777578334	p.Val30Ala	missense variant	-	NC_000001.11:g.207496356T>C	ExAC,gnomAD
rs1433800468	p.Val32Gly	missense variant	-	NC_000001.11:g.207496362T>G	TOPMed
rs756378518	p.Val32Met	missense variant	-	NC_000001.11:g.207496361G>A	ExAC,gnomAD
NCI-TCGA novel	p.Leu33Met	missense variant	-	NC_000001.11:g.207496364C>A	NCI-TCGA
rs370940682	p.Leu34Val	missense variant	-	NC_000001.11:g.207496367C>G	ESP,ExAC,TOPMed,gnomAD
rs1256878310	p.Val38Ala	missense variant	-	NC_000001.11:g.207496380T>C	gnomAD
rs1205577751	p.Val38Met	missense variant	-	NC_000001.11:g.207496379G>A	TOPMed
rs1198741575	p.Gly41Arg	missense variant	-	NC_000001.11:g.207496388G>C	gnomAD
NCI-TCGA novel	p.Gly41Ser	missense variant	-	NC_000001.11:g.207496388G>A	NCI-TCGA
rs200480103	p.Cys43Tyr	missense variant	-	NC_000001.11:g.207505910G>A	ExAC,gnomAD
rs1245523386	p.Asn44Asp	missense variant	-	NC_000001.11:g.207505912A>G	TOPMed
rs1204789544	p.Asn44Ser	missense variant	-	NC_000001.11:g.207505913A>G	TOPMed
rs1464525336	p.Ala45Val	missense variant	-	NC_000001.11:g.207505916C>T	TOPMed
COSM1338417	p.Glu47Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.207505921G>T	NCI-TCGA Cosmic
rs534091932	p.Glu47Lys	missense variant	-	NC_000001.11:g.207505921G>A	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Glu47Gln	missense variant	-	NC_000001.11:g.207505921G>C	NCI-TCGA
rs769544255	p.Trp48Arg	missense variant	-	NC_000001.11:g.207505924T>C	ExAC,TOPMed,gnomAD
rs1206948700	p.Leu49Phe	missense variant	-	NC_000001.11:g.207505927C>T	TOPMed
rs774858867	p.Pro50Ser	missense variant	-	NC_000001.11:g.207505930C>T	ExAC,TOPMed,gnomAD
COSM1473346	p.Ala52Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207505936G>T	NCI-TCGA Cosmic
rs748734391	p.Ala52Val	missense variant	-	NC_000001.11:g.207505937C>T	ExAC,gnomAD
rs768171570	p.Arg53Gly	missense variant	-	NC_000001.11:g.207505939A>G	ExAC,TOPMed,gnomAD
rs768171570	p.Arg53Trp	missense variant	-	NC_000001.11:g.207505939A>T	ExAC,TOPMed,gnomAD
rs1446364125	p.Leu57Ile	missense variant	-	NC_000001.11:g.207505951C>A	TOPMed,gnomAD
rs767183179	p.Thr58Asn	missense variant	-	NC_000001.11:g.207505955C>A	ExAC,TOPMed,gnomAD
rs1277802342	p.Thr58Ala	missense variant	-	NC_000001.11:g.207505954A>G	gnomAD
rs370964624	p.Glu60Lys	missense variant	-	NC_000001.11:g.207505960G>A	ESP,ExAC
rs4844600	p.Glu60Asp	missense variant	-	NC_000001.11:g.207505962A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs368774493	p.Pro64Ser	missense variant	-	NC_000001.11:g.207505972C>T	ESP,ExAC,gnomAD
rs1318015787	p.Ile65Asn	missense variant	-	NC_000001.11:g.207505976T>A	TOPMed
COSM6060840	p.Gly66Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207505979G>T	NCI-TCGA Cosmic
rs148543091	p.Thr67Ile	missense variant	-	NC_000001.11:g.207505982C>T	1000Genomes,ESP,TOPMed,gnomAD
COSM4935757	p.Tyr68Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.207505986T>A	NCI-TCGA Cosmic
rs764290811	p.Tyr68His	missense variant	-	NC_000001.11:g.207505984T>C	ExAC,TOPMed,gnomAD
rs757833188	p.Tyr71Asp	missense variant	-	NC_000001.11:g.207505993T>G	ExAC,gnomAD
rs757833188	p.Tyr71His	missense variant	-	NC_000001.11:g.207505993T>C	ExAC,gnomAD
rs781398817	p.Glu72Val	missense variant	-	NC_000001.11:g.207505997A>T	ExAC,gnomAD
COSM4027613	p.Cys73Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207505999T>C	NCI-TCGA Cosmic
rs1387422169	p.Cys73Phe	missense variant	-	NC_000001.11:g.207506000G>T	TOPMed
rs200913967	p.Arg74Leu	missense variant	-	NC_000001.11:g.207506003G>T	ESP,ExAC,TOPMed,gnomAD
rs536471861	p.Arg74Cys	missense variant	-	NC_000001.11:g.207506002C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs200913967	p.Arg74His	missense variant	-	NC_000001.11:g.207506003G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro75Ser	missense variant	-	NC_000001.11:g.207506005C>T	NCI-TCGA
rs1478766910	p.Gly76Arg	missense variant	-	NC_000001.11:g.207506008G>C	gnomAD
rs1171079587	p.Ser78Cys	missense variant	-	NC_000001.11:g.207506015C>G	gnomAD
rs773894177	p.Gly79Arg	missense variant	-	NC_000001.11:g.207506017G>A	ExAC,gnomAD
rs984752226	p.Arg80Ile	missense variant	-	NC_000001.11:g.207506021G>T	TOPMed
rs748011435	p.Pro81Arg	missense variant	-	NC_000001.11:g.207506024C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro81Ala	missense variant	-	NC_000001.11:g.207506023C>G	NCI-TCGA
NCI-TCGA novel	p.Pro81Gln	missense variant	-	NC_000001.11:g.207506024C>A	NCI-TCGA
rs748011435	p.Pro81Leu	missense variant	-	NC_000001.11:g.207506024C>T	ExAC,TOPMed,gnomAD
rs760447829	p.Ser83Pro	missense variant	-	NC_000001.11:g.207506029T>C	ExAC,gnomAD
rs1283688718	p.Ile84Val	missense variant	-	NC_000001.11:g.207506032A>G	gnomAD
rs1354038400	p.Ile85Val	missense variant	-	NC_000001.11:g.207506035A>G	gnomAD
rs766100604	p.Ile85Thr	missense variant	-	NC_000001.11:g.207506036T>C	ExAC,gnomAD
rs1317743493	p.Asn89Ile	missense variant	-	NC_000001.11:g.207506048A>T	TOPMed,gnomAD
rs763296805	p.Asn89Lys	missense variant	-	NC_000001.11:g.207506049C>A	ExAC,TOPMed,gnomAD
COSM209698	p.Ser90Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207506051C>T	NCI-TCGA Cosmic
rs186041346	p.Val91Ile	missense variant	-	NC_000001.11:g.207506053G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Trp92Leu	missense variant	-	NC_000001.11:g.207506057G>T	NCI-TCGA
rs1254821847	p.Thr93Asn	missense variant	-	NC_000001.11:g.207506060C>A	gnomAD
rs1489203243	p.Ala95Thr	missense variant	-	NC_000001.11:g.207506065G>A	gnomAD
rs1422617991	p.Lys96Asn	missense variant	-	NC_000001.11:g.207506070G>C	gnomAD
rs750911871	p.Arg98Ser	missense variant	-	NC_000001.11:g.207506076G>T	ExAC,gnomAD
rs1326432997	p.Cys99Gly	missense variant	-	NC_000001.11:g.207506077T>G	TOPMed
rs1322506903	p.Arg100Lys	missense variant	-	NC_000001.11:g.207506081G>A	TOPMed
rs1384664298	p.Arg100Ser	missense variant	-	NC_000001.11:g.207506082A>T	TOPMed
rs756455451	p.Arg101Ser	missense variant	-	NC_000001.11:g.207506083C>A	ExAC,TOPMed,gnomAD
rs756455451	p.Arg101Gly	missense variant	-	NC_000001.11:g.207506083C>G	ExAC,TOPMed,gnomAD
rs756455451	p.Arg101Cys	missense variant	-	NC_000001.11:g.207506083C>T	ExAC,TOPMed,gnomAD
rs746933193	p.Lys102Asn	missense variant	-	NC_000001.11:g.207506718A>T	ExAC,gnomAD
rs11587944	p.Arg105Cys	missense variant	-	NC_000001.11:g.207506725C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs554133188	p.Arg105His	missense variant	-	NC_000001.11:g.207506726G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs745592804	p.Pro107Leu	missense variant	-	NC_000001.11:g.207506732C>T	ExAC,gnomAD
rs769726347	p.Pro108Leu	missense variant	-	NC_000001.11:g.207506735C>T	ExAC,gnomAD
rs377658670	p.Asp109Val	missense variant	-	NC_000001.11:g.207506738A>T	ESP,ExAC,TOPMed,gnomAD
rs377658670	p.Asp109Gly	missense variant	-	NC_000001.11:g.207506738A>G	ESP,ExAC,TOPMed,gnomAD
COSM3482661	p.Pro110Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207506740C>T	NCI-TCGA Cosmic
rs370425971	p.Pro110Thr	missense variant	-	NC_000001.11:g.207506740C>A	ESP,ExAC,TOPMed,gnomAD
rs773217946	p.Val111Ala	missense variant	-	NC_000001.11:g.207506744T>C	ExAC,gnomAD
NCI-TCGA novel	p.Gly113Asp	missense variant	-	NC_000001.11:g.207506750G>A	NCI-TCGA
rs761154473	p.Val115Leu	missense variant	-	NC_000001.11:g.207506755G>C	ExAC,gnomAD
rs3991747	p.Val115Gly	missense variant	-	NC_000001.11:g.207506756T>G	TOPMed,gnomAD
rs3991747	p.Val115Ala	missense variant	-	NC_000001.11:g.207506756T>C	TOPMed,gnomAD
NCI-TCGA novel	p.His116Arg	missense variant	-	NC_000001.11:g.207506759A>G	NCI-TCGA
rs993321712	p.Val117Ala	missense variant	-	NC_000001.11:g.207506762T>C	TOPMed
rs376045736	p.Ile118Thr	missense variant	-	NC_000001.11:g.207506765T>C	ESP,ExAC,TOPMed,gnomAD
rs55715268	p.Lys119Thr	missense variant	-	NC_000001.11:g.207506768A>C	ESP,ExAC,TOPMed,gnomAD
rs752354880	p.Gly120Ala	missense variant	-	NC_000001.11:g.207506771G>C	ExAC,TOPMed,gnomAD
rs752354880	p.Gly120Asp	missense variant	-	NC_000001.11:g.207506771G>A	ExAC,TOPMed,gnomAD
rs763635626	p.Ile121Met	missense variant	-	NC_000001.11:g.207506775C>G	ExAC,TOPMed,gnomAD
rs964384441	p.Gln122Leu	missense variant	-	NC_000001.11:g.207506777A>T	TOPMed,gnomAD
rs55962594	p.Gly124Arg	missense variant	-	NC_000001.11:g.207506782G>C	ESP,ExAC,TOPMed,gnomAD
rs55962594	p.Gly124Arg	missense variant	-	NC_000001.11:g.207506782G>A	ESP,ExAC,TOPMed,gnomAD
rs1284775847	p.Ser125Thr	missense variant	-	NC_000001.11:g.207506785T>A	gnomAD
rs781217918	p.Ser125Phe	missense variant	-	NC_000001.11:g.207506786C>T	ExAC,gnomAD
rs1211525831	p.Gln126Pro	missense variant	-	NC_000001.11:g.207506789A>C	gnomAD
rs755936644	p.Ser130Pro	missense variant	-	NC_000001.11:g.207506800T>C	ExAC,gnomAD
rs779758291	p.Ser130Phe	missense variant	-	NC_000001.11:g.207506801C>T	ExAC,gnomAD
rs55906048	p.Thr132Pro	missense variant	-	NC_000001.11:g.207506806A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs183171969	p.Lys133Glu	missense variant	-	NC_000001.11:g.207506809A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs767211812	p.Gly134Arg	missense variant	-	NC_000001.11:g.207506812G>A	ExAC,TOPMed,gnomAD
rs763171525	p.Tyr135Cys	missense variant	-	NC_000001.11:g.207511571A>G	ExAC,gnomAD
rs571542796	p.Tyr135His	missense variant	-	NC_000001.11:g.207511570T>C	1000Genomes,ExAC,gnomAD
rs764542666	p.Arg136Ter	stop gained	-	NC_000001.11:g.207511573C>T	ExAC,gnomAD
rs774108631	p.Arg136Gln	missense variant	-	NC_000001.11:g.207511574G>A	ExAC,TOPMed,gnomAD
rs1176392610	p.Leu137His	missense variant	-	NC_000001.11:g.207511577T>A	TOPMed,gnomAD
rs374701486	p.Leu137Ile	missense variant	-	NC_000001.11:g.207511576C>A	ESP,ExAC,TOPMed,gnomAD
rs374701486	p.Leu137Phe	missense variant	-	NC_000001.11:g.207511576C>T	ESP,ExAC,TOPMed,gnomAD
rs1176392610	p.Leu137Pro	missense variant	-	NC_000001.11:g.207511577T>C	TOPMed,gnomAD
rs750014956	p.Gly139Cys	missense variant	-	NC_000001.11:g.207511582G>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly139Ter	stop gained	-	NC_000001.11:g.207511583_207511584insATGAGC	NCI-TCGA
rs760660307	p.Ser140Phe	missense variant	-	NC_000001.11:g.207511586C>T	ExAC,gnomAD
rs368197693	p.Ser141Leu	missense variant	-	NC_000001.11:g.207511589C>T	ESP,ExAC,TOPMed,gnomAD
rs1369522609	p.Ser142Tyr	missense variant	-	NC_000001.11:g.207511592C>A	gnomAD
rs1304528755	p.Ala143Val	missense variant	-	NC_000001.11:g.207511595C>T	gnomAD
rs778796743	p.Ile146Asn	missense variant	-	NC_000001.11:g.207511604T>A	ExAC,gnomAD
rs1232099294	p.Ile147Met	missense variant	-	NC_000001.11:g.207511608C>G	TOPMed,gnomAD
rs1288254338	p.Gly149Asp	missense variant	-	NC_000001.11:g.207511613G>A	gnomAD
rs1318002167	p.Val152Ile	missense variant	-	NC_000001.11:g.207511621G>A	gnomAD
rs751749798	p.Ile153Val	missense variant	-	NC_000001.11:g.207511624A>G	ExAC,gnomAD
NCI-TCGA novel	p.Ile153Thr	missense variant	-	NC_000001.11:g.207511625T>C	NCI-TCGA
NCI-TCGA novel	p.Asp155Asn	missense variant	-	NC_000001.11:g.207511630G>A	NCI-TCGA
rs1259302874	p.Asn156Ser	missense variant	-	NC_000001.11:g.207511634A>G	gnomAD
COSM3482665	p.Glu157Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207511636G>A	NCI-TCGA Cosmic
rs1489712968	p.Thr158Ala	missense variant	-	NC_000001.11:g.207511639A>G	gnomAD
rs757524712	p.Thr158Ile	missense variant	-	NC_000001.11:g.207511640C>T	ExAC,gnomAD
rs371731619	p.Pro159Leu	missense variant	-	NC_000001.11:g.207511643C>T	ESP,ExAC,TOPMed,gnomAD
rs1251927369	p.Pro159Thr	missense variant	-	NC_000001.11:g.207511642C>A	TOPMed,gnomAD
rs769933207	p.Ile160Val	missense variant	-	NC_000001.11:g.207511645A>G	ExAC,TOPMed
NCI-TCGA novel	p.Cys161Ter	frameshift	-	NC_000001.11:g.207511648_207511649TG>-	NCI-TCGA
COSM4027619	p.Asp162Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207511653C>G	NCI-TCGA Cosmic
rs1354035846	p.Asp162His	missense variant	-	NC_000001.11:g.207511651G>C	TOPMed
rs1423483198	p.Ala173Val	missense variant	-	NC_000001.11:g.207542212C>T	gnomAD
rs1172570230	p.Ala173Thr	missense variant	-	NC_000001.11:g.207542211G>A	gnomAD
rs1319392751	p.Asn181Ser	missense variant	-	NC_000001.11:g.207542236A>G	gnomAD
rs1402744807	p.Asn181Asp	missense variant	-	NC_000001.11:g.207542235A>G	gnomAD
rs1344196089	p.Ser189Pro	missense variant	-	NC_000001.11:g.207542259T>C	gnomAD
rs1454504815	p.Arg194Cys	missense variant	-	NC_000001.11:g.207542274C>T	TOPMed
rs1432514512	p.Arg194His	missense variant	-	NC_000001.11:g.207542275G>A	gnomAD
rs1327296376	p.Asn196Ser	missense variant	-	NC_000001.11:g.207542281A>G	gnomAD
rs1371179681	p.Pro197Leu	missense variant	-	NC_000001.11:g.207542284C>T	gnomAD
rs1272946687	p.Gly200Arg	missense variant	-	NC_000001.11:g.207542292G>A	TOPMed,gnomAD
rs1352760983	p.Gly201Arg	missense variant	-	NC_000001.11:g.207542295G>A	gnomAD
rs1224094604	p.Val204Met	missense variant	-	NC_000001.11:g.207542304G>A	gnomAD
rs1319273008	p.Val208Ala	missense variant	-	NC_000001.11:g.207542317T>C	TOPMed
rs1450939279	p.Ser212Thr	missense variant	-	NC_000001.11:g.207542328T>A	TOPMed
rs1464593590	p.Tyr214His	missense variant	-	NC_000001.11:g.207542334T>C	TOPMed,gnomAD
rs1207101946	p.Thr216Ala	missense variant	-	NC_000001.11:g.207542340A>G	gnomAD
rs1469007075	p.Asp220Asn	missense variant	-	NC_000001.11:g.207542352G>A	gnomAD
rs1198268263	p.Val222Leu	missense variant	-	NC_000001.11:g.207542358G>C	gnomAD
rs1383759889	p.Val222Glu	missense variant	-	NC_000001.11:g.207542359T>A	TOPMed
rs957992250	p.Trp225Arg	missense variant	-	NC_000001.11:g.207542367T>C	TOPMed
rs991182753	p.Ser226Asn	missense variant	-	NC_000001.11:g.207542371G>A	TOPMed,gnomAD
rs1159458530	p.Gly227Ser	missense variant	-	NC_000001.11:g.207542373G>A	gnomAD
rs1411740870	p.Pro228Leu	missense variant	-	NC_000001.11:g.207542377C>T	gnomAD
rs949270498	p.Ala229Val	missense variant	-	NC_000001.11:g.207542380C>T	TOPMed,gnomAD
rs140717816	p.Ile234Thr	missense variant	-	NC_000001.11:g.207542395T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1321051926	p.Pro235Arg	missense variant	-	NC_000001.11:g.207542398C>G	TOPMed,gnomAD
rs1337413890	p.Asn236Thr	missense variant	-	NC_000001.11:g.207542401A>C	TOPMed,gnomAD
rs1442903980	p.Cys238Tyr	missense variant	-	NC_000001.11:g.207542407G>A	TOPMed,gnomAD
rs1278700497	p.Thr239Met	missense variant	-	NC_000001.11:g.207542410C>T	TOPMed,gnomAD
rs1326890293	p.Asn245Ser	missense variant	-	NC_000001.11:g.207542428A>G	gnomAD
rs907688986	p.Ile247Met	missense variant	-	NC_000001.11:g.207542435A>G	TOPMed,gnomAD
rs1335731294	p.Val249Glu	missense variant	-	NC_000001.11:g.207542440T>A	TOPMed,gnomAD
rs1435305049	p.Asp251Asn	missense variant	-	NC_000001.11:g.207542445G>A	TOPMed
NCI-TCGA novel	p.Ser257PhePheSerTerUnk	frameshift	-	NC_000001.11:g.207542459_207542460insT	NCI-TCGA
rs940457433	p.Glu260Ter	stop gained	-	NC_000001.11:g.207542472G>T	TOPMed
rs1425645053	p.Val262Met	missense variant	-	NC_000001.11:g.207542478G>A	TOPMed
rs1037377565	p.Glu263Gln	missense variant	-	NC_000001.11:g.207542481G>C	TOPMed,gnomAD
rs1303974495	p.Gln267Arg	missense variant	-	NC_000001.11:g.207542494A>G	TOPMed,gnomAD
rs1303974495	p.Gln267Leu	missense variant	-	NC_000001.11:g.207542494A>T	TOPMed,gnomAD
rs1489913779	p.Val271Gly	missense variant	-	NC_000001.11:g.207542506T>G	TOPMed
rs1271255603	p.Met272Arg	missense variant	-	NC_000001.11:g.207542509T>G	TOPMed
rs1224487839	p.Met272Ile	missense variant	-	NC_000001.11:g.207542510G>A	TOPMed
rs1440030856	p.Lys273Arg	missense variant	-	NC_000001.11:g.207542512A>G	gnomAD
rs1250705560	p.Pro275Arg	missense variant	-	NC_000001.11:g.207542518C>G	TOPMed
rs770022550	p.Pro275Thr	missense variant	-	NC_000001.11:g.207542517C>A	ExAC,TOPMed,gnomAD
rs558851782	p.Arg276His	missense variant	-	NC_000001.11:g.207542521G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1251529011	p.Arg276Cys	missense variant	-	NC_000001.11:g.207542520C>T	TOPMed,gnomAD
rs1295642971	p.Arg277His	missense variant	-	NC_000001.11:g.207542524G>A	TOPMed
rs1330092581	p.Val278Met	missense variant	-	NC_000001.11:g.207542526G>A	gnomAD
rs1227950855	p.Cys280Phe	missense variant	-	NC_000001.11:g.207542533G>T	TOPMed,gnomAD
rs931665450	p.Pro288Gln	missense variant	-	NC_000001.11:g.207542557C>A	TOPMed,gnomAD
rs931665450	p.Pro288Leu	missense variant	-	NC_000001.11:g.207542557C>T	TOPMed,gnomAD
rs1370320669	p.Glu289Gln	missense variant	-	NC_000001.11:g.207542559G>C	TOPMed
rs1457117136	p.Ser294Phe	missense variant	-	NC_000001.11:g.207542575C>T	TOPMed,gnomAD
rs1355236699	p.Arg295Lys	missense variant	-	NC_000001.11:g.207542578G>A	TOPMed
rs1160931928	p.Val296Ile	missense variant	-	NC_000001.11:g.207542580G>A	gnomAD
rs1422851591	p.Val296Ala	missense variant	-	NC_000001.11:g.207545308T>C	gnomAD
rs1430937692	p.Cys297Arg	missense variant	-	NC_000001.11:g.207545310T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Cys297Ter	stop gained	-	NC_000001.11:g.207545312T>A	NCI-TCGA
rs1185043675	p.Gln298Lys	missense variant	-	NC_000001.11:g.207545313C>A	TOPMed,gnomAD
rs1332822241	p.Asp302Asn	missense variant	-	NC_000001.11:g.207545325G>A	TOPMed
rs527946247	p.Ala306Val	missense variant	-	NC_000001.11:g.207545338C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs989786536	p.Arg308His	missense variant	-	NC_000001.11:g.207545344G>A	TOPMed,gnomAD
rs200584485	p.Arg308Cys	missense variant	-	NC_000001.11:g.207545343C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Thr309Ala	missense variant	-	NC_000001.11:g.207545346A>G	NCI-TCGA
rs1438406657	p.Arg311Lys	missense variant	-	NC_000001.11:g.207545353G>A	TOPMed
NCI-TCGA novel	p.Pro318His	missense variant	-	NC_000001.11:g.207545374C>A	NCI-TCGA
rs774162053	p.Gly319Arg	missense variant	-	NC_000001.11:g.207545376G>A	ExAC,TOPMed,gnomAD
rs761360483	p.Gln320Arg	missense variant	-	NC_000001.11:g.207545380A>G	ExAC,gnomAD
rs1310778512	p.Gln320Ter	stop gained	-	NC_000001.11:g.207545379C>T	gnomAD
NCI-TCGA novel	p.Glu321Lys	missense variant	-	NC_000001.11:g.207545382G>A	NCI-TCGA
rs760719130	p.Phe323Leu	missense variant	-	NC_000001.11:g.207545390C>G	ExAC,gnomAD
rs750300388	p.Phe323Ser	missense variant	-	NC_000001.11:g.207545389T>C	ExAC,TOPMed,gnomAD
rs370040740	p.Ser325Ile	missense variant	-	NC_000001.11:g.207545395G>T	ESP,ExAC,TOPMed,gnomAD
rs1483158924	p.Glu327Gly	missense variant	-	NC_000001.11:g.207545401A>G	gnomAD
rs754769140	p.Pro328His	missense variant	-	NC_000001.11:g.207545404C>A	ExAC,TOPMed,gnomAD
rs751800993	p.Gly329Ser	missense variant	-	NC_000001.11:g.207545406G>A	ExAC,TOPMed,gnomAD
rs751800993	p.Gly329Cys	missense variant	-	NC_000001.11:g.207545406G>T	ExAC,TOPMed,gnomAD
rs757285821	p.Tyr330Cys	missense variant	-	NC_000001.11:g.207545410A>G	ExAC,gnomAD
rs372379497	p.Asp331Tyr	missense variant	-	NC_000001.11:g.207545412G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs372379497	p.Asp331Asn	missense variant	-	NC_000001.11:g.207545412G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1464299498	p.Gly334Arg	missense variant	-	NC_000001.11:g.207545421G>C	gnomAD
rs1290446351	p.Gly334Glu	missense variant	-	NC_000001.11:g.207545422G>A	TOPMed,gnomAD
rs536422297	p.Ala335Ser	missense variant	-	NC_000001.11:g.207545424G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs774104620	p.Ala336Thr	missense variant	-	NC_000001.11:g.207545427G>A	ExAC,TOPMed,gnomAD
rs1363203481	p.Ala336Val	missense variant	-	NC_000001.11:g.207545428C>T	gnomAD
NCI-TCGA novel	p.Ala336Ser	missense variant	-	NC_000001.11:g.207545427G>T	NCI-TCGA
rs771457562	p.Met338Val	missense variant	-	NC_000001.11:g.207545433A>G	ExAC,gnomAD
rs766277020	p.Arg339His	missense variant	-	NC_000001.11:g.207545437G>A	ExAC,TOPMed,gnomAD
rs201738449	p.Arg339Cys	missense variant	-	NC_000001.11:g.207545436C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs201738449	p.Arg339Ser	missense variant	-	NC_000001.11:g.207545436C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1465049433	p.Gly344Arg	missense variant	-	NC_000001.11:g.207545451G>C	gnomAD
rs1159769571	p.Asp345Glu	missense variant	-	NC_000001.11:g.207545456C>G	TOPMed
rs1207759150	p.Trp346Ter	stop gained	-	NC_000001.11:g.207545459G>A	gnomAD
rs1245653046	p.Ser347Asn	missense variant	-	NC_000001.11:g.207545461G>A	TOPMed,gnomAD
rs1473263708	p.Pro348Ser	missense variant	-	NC_000001.11:g.207545463C>T	TOPMed
NCI-TCGA novel	p.Pro351Ser	missense variant	-	NC_000001.11:g.207545472C>T	NCI-TCGA
NCI-TCGA novel	p.Pro351Leu	missense variant	-	NC_000001.11:g.207545473C>T	NCI-TCGA
rs1431394392	p.Thr352Ile	missense variant	-	NC_000001.11:g.207545476C>T	gnomAD
rs1270674501	p.Val355Leu	missense variant	-	NC_000001.11:g.207545484G>T	gnomAD
rs1419095881	p.Asp359Gly	missense variant	-	NC_000001.11:g.207545588A>G	TOPMed
rs1191770056	p.Asp360Gly	missense variant	-	NC_000001.11:g.207545591A>G	TOPMed
rs1170982782	p.Gly363Asp	missense variant	-	NC_000001.11:g.207545600G>A	TOPMed,gnomAD
rs1476739386	p.Gly363Ser	missense variant	-	NC_000001.11:g.207545599G>A	TOPMed
rs1371677426	p.Arg369Cys	missense variant	-	NC_000001.11:g.207545617C>T	TOPMed,gnomAD
rs1263535537	p.Arg369His	missense variant	-	NC_000001.11:g.207545618G>A	TOPMed
rs1429565541	p.Val370Gly	missense variant	-	NC_000001.11:g.207545621T>G	TOPMed,gnomAD
rs1257107357	p.Gln377His	missense variant	-	NC_000001.11:g.207545643G>T	TOPMed
rs1216381386	p.Gly379Arg	missense variant	-	NC_000001.11:g.207545647G>A	TOPMed
rs1320508670	p.Lys381Glu	missense variant	-	NC_000001.11:g.207545653A>G	TOPMed
rs981331220	p.Val382Met	missense variant	-	NC_000001.11:g.207545656G>A	TOPMed
NCI-TCGA novel	p.Val385Leu	missense variant	-	NC_000001.11:g.207545665G>C	NCI-TCGA
rs1306545385	p.Ile515Thr	missense variant	-	NC_000001.11:g.207552036T>C	TOPMed,gnomAD
rs1351901476	p.Arg524Cys	missense variant	-	NC_000001.11:g.207552062C>T	TOPMed,gnomAD
rs1237017848	p.Arg524His	missense variant	-	NC_000001.11:g.207552063G>A	TOPMed
rs1178952374	p.Cys554Trp	missense variant	-	NC_000001.11:g.207552762T>G	gnomAD
rs1268168342	p.Pro557Ser	missense variant	-	NC_000001.11:g.207552769C>T	TOPMed
NCI-TCGA novel	p.Asp559Tyr	missense variant	-	NC_000001.11:g.207552775G>T	NCI-TCGA
COSM425176	p.Val561Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207552782T>G	NCI-TCGA Cosmic
rs1456637413	p.Met564Arg	missense variant	-	NC_000001.11:g.207552791T>G	TOPMed
rs1260187245	p.Val565Met	missense variant	-	NC_000001.11:g.207552793G>A	TOPMed
rs1260187245	p.Val565Leu	missense variant	-	NC_000001.11:g.207552793G>T	TOPMed
rs1250960533	p.His566Arg	missense variant	-	NC_000001.11:g.207552797A>G	gnomAD
rs1339795954	p.Ile568Val	missense variant	-	NC_000001.11:g.207552802A>G	TOPMed
rs1291680183	p.Thr569Ile	missense variant	-	NC_000001.11:g.207552806C>T	TOPMed,gnomAD
rs1291680183	p.Thr569Lys	missense variant	-	NC_000001.11:g.207552806C>A	TOPMed,gnomAD
rs750449198	p.Asp570Tyr	missense variant	-	NC_000001.11:g.207552808G>T	ExAC,TOPMed,gnomAD
rs1022569933	p.Ile571Ser	missense variant	-	NC_000001.11:g.207552812T>G	TOPMed
rs3738467	p.Gln572His	missense variant	-	NC_000001.11:g.207552816G>T	ExAC,TOPMed,gnomAD
rs1397699791	p.Val573Ala	missense variant	-	NC_000001.11:g.207552818T>C	TOPMed
NCI-TCGA novel	p.Arg576Ile	missense variant	-	NC_000001.11:g.207552827G>T	NCI-TCGA
rs1449388443	p.Gly677Ser	missense variant	-	NC_000001.11:g.207560930G>A	TOPMed,gnomAD
rs1349409945	p.Ile684Thr	missense variant	-	NC_000001.11:g.207560952T>C	gnomAD
rs1300480503	p.Thr689Met	missense variant	-	NC_000001.11:g.207560967C>T	gnomAD
rs1351649221	p.Val711Ile	missense variant	-	NC_000001.11:g.207561032G>A	gnomAD
rs1422063204	p.Val746Ala	missense variant	-	NC_000001.11:g.207563864T>C	gnomAD
rs1172663765	p.Pro749Ser	missense variant	-	NC_000001.11:g.207563872C>T	gnomAD
rs772748383	p.Pro750Ser	missense variant	-	NC_000001.11:g.207563875C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro751Leu	missense variant	-	NC_000001.11:g.207563879C>T	NCI-TCGA
NCI-TCGA novel	p.Leu754Pro	missense variant	-	NC_000001.11:g.207563888T>C	NCI-TCGA
rs1306529247	p.Glu757Lys	missense variant	-	NC_000001.11:g.207563896G>A	gnomAD
rs770372494	p.Arg758Leu	missense variant	-	NC_000001.11:g.207563900G>T	ExAC,TOPMed,gnomAD
rs770372494	p.Arg758His	missense variant	-	NC_000001.11:g.207563900G>A	ExAC,TOPMed,gnomAD
rs746473308	p.Arg758Cys	missense variant	-	NC_000001.11:g.207563899C>T	ExAC,TOPMed,gnomAD
rs776512609	p.Thr759Asn	missense variant	-	NC_000001.11:g.207563903C>A	ExAC,gnomAD
rs1215770381	p.Arg761Lys	missense variant	-	NC_000001.11:g.207563909G>A	gnomAD
rs764994827	p.Asp762Val	missense variant	-	NC_000001.11:g.207563912A>T	ExAC,TOPMed,gnomAD
rs1341341110	p.Lys763Asn	missense variant	-	NC_000001.11:g.207563916G>T	gnomAD
COSM3482681	p.Asp764Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207563919C>A	NCI-TCGA Cosmic
rs775322428	p.Asp764Gly	missense variant	-	NC_000001.11:g.207563918A>G	ExAC,gnomAD
COSM3482683	p.Asn765Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207563922C>A	NCI-TCGA Cosmic
rs1282192185	p.Pro768Leu	missense variant	-	NC_000001.11:g.207563930C>T	gnomAD
rs1346641257	p.Gly769Val	missense variant	-	NC_000001.11:g.207563933G>T	TOPMed
rs767720284	p.Gly769Arg	missense variant	-	NC_000001.11:g.207563932G>A	ExAC,TOPMed,gnomAD
rs1390911625	p.Ser775Ile	missense variant	-	NC_000001.11:g.207563951G>T	gnomAD
COSM4027625	p.Pro778Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207563959C>T	NCI-TCGA Cosmic
rs766604567	p.Pro778Thr	missense variant	-	NC_000001.11:g.207563959C>A	ExAC,gnomAD
rs375660602	p.Gly779Ser	missense variant	-	NC_000001.11:g.207563962G>A	ESP,TOPMed,gnomAD
rs755596402	p.Tyr780Cys	missense variant	-	NC_000001.11:g.207563966A>G	ExAC
rs1357020474	p.Asp781Asn	missense variant	-	NC_000001.11:g.207563968G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Asp781Gly	missense variant	-	NC_000001.11:g.207563969A>G	NCI-TCGA
NCI-TCGA novel	p.Leu782Ile	missense variant	-	NC_000001.11:g.207563971C>A	NCI-TCGA
rs1227496417	p.Ala785Ser	missense variant	-	NC_000001.11:g.207563980G>T	gnomAD
NCI-TCGA novel	p.Ala785Asp	missense variant	-	NC_000001.11:g.207563981C>A	NCI-TCGA
rs1320601581	p.Ala786Val	missense variant	-	NC_000001.11:g.207563984C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Ser787PheSerProArg	insertion	-	NC_000001.11:g.207563988_207563989insTTTTCCCCTAGA	NCI-TCGA
rs753042039	p.Arg789Cys	missense variant	-	NC_000001.11:g.207563992C>T	ExAC,TOPMed,gnomAD
rs201018148	p.Arg789His	missense variant	-	NC_000001.11:g.207563993G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg789Gly	missense variant	-	NC_000001.11:g.207563992C>G	NCI-TCGA
rs1330754846	p.Cys790Arg	missense variant	-	NC_000001.11:g.207563995T>C	TOPMed,gnomAD
rs1276305457	p.Pro792Thr	missense variant	-	NC_000001.11:g.207564001C>A	gnomAD
rs561614144	p.Gly794Glu	missense variant	-	NC_000001.11:g.207564008G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1210895497	p.Gly794Arg	missense variant	-	NC_000001.11:g.207564007G>A	gnomAD
rs1464454973	p.Asp795Glu	missense variant	-	NC_000001.11:g.207564012C>G	TOPMed,gnomAD
NCI-TCGA novel	p.Asp795Asn	missense variant	-	NC_000001.11:g.207564010G>A	NCI-TCGA
rs770446264	p.Trp796Cys	missense variant	-	NC_000001.11:g.207564015G>C	ExAC,gnomAD
rs1248917378	p.Ser797Asn	missense variant	-	NC_000001.11:g.207564017G>A	gnomAD
rs1472841505	p.Pro798Ser	missense variant	-	NC_000001.11:g.207564019C>T	TOPMed
rs1172333018	p.Ala799Val	missense variant	-	NC_000001.11:g.207564023C>T	gnomAD
rs1464850502	p.Pro801Ala	missense variant	-	NC_000001.11:g.207564028C>G	TOPMed,gnomAD
rs745791931	p.Thr802Ile	missense variant	-	NC_000001.11:g.207564032C>T	ExAC,gnomAD
rs745791931	p.Thr802Arg	missense variant	-	NC_000001.11:g.207564032C>G	ExAC,gnomAD
rs780677106	p.Val805Ala	missense variant	-	NC_000001.11:g.207564132T>C	ExAC,gnomAD
rs1034671714	p.Lys806Thr	missense variant	-	NC_000001.11:g.207564135A>C	TOPMed,gnomAD
rs1160988535	p.Lys806Ter	stop gained	-	NC_000001.11:g.207564134A>T	TOPMed
rs1287510617	p.Ser807Phe	missense variant	-	NC_000001.11:g.207564138C>T	gnomAD
rs959893502	p.Asp810Gly	missense variant	-	NC_000001.11:g.207564147A>G	TOPMed
rs552282176	p.Met812Leu	missense variant	-	NC_000001.11:g.207564152A>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1250324619	p.Met812Thr	missense variant	-	NC_000001.11:g.207564153T>C	TOPMed
rs552282176	p.Met812Leu	missense variant	-	NC_000001.11:g.207564152A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs375592996	p.Gly813Asp	missense variant	-	NC_000001.11:g.207564156G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly813Cys	missense variant	-	NC_000001.11:g.207564155G>T	NCI-TCGA
NCI-TCGA novel	p.Gly813Ala	missense variant	-	NC_000001.11:g.207564156G>C	NCI-TCGA
rs760943508	p.Leu816Phe	missense variant	-	NC_000001.11:g.207564164C>T	ExAC,gnomAD
NCI-TCGA novel	p.Leu816Ile	missense variant	-	NC_000001.11:g.207564164C>A	NCI-TCGA
rs777009868	p.Gly818Asp	missense variant	-	NC_000001.11:g.207564171G>A	ExAC,gnomAD
rs777009868	p.Gly818Val	missense variant	-	NC_000001.11:g.207564171G>T	ExAC,gnomAD
NCI-TCGA novel	p.Gly818Arg	missense variant	-	NC_000001.11:g.207564170G>C	NCI-TCGA
rs759642548	p.Arg819Cys	missense variant	-	NC_000001.11:g.207564173C>T	ExAC,TOPMed,gnomAD
rs202041119	p.Arg819His	missense variant	-	NC_000001.11:g.207564174G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs763421051	p.Val820Gly	missense variant	-	NC_000001.11:g.207564177T>G	ExAC,TOPMed,gnomAD
rs534738787	p.Val820Leu	missense variant	-	NC_000001.11:g.207564176G>C	1000Genomes,ExAC,gnomAD
COSM903143	p.Phe822Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207564183T>G	NCI-TCGA Cosmic
rs1322350210	p.Phe822Leu	missense variant	-	NC_000001.11:g.207564184T>A	TOPMed
rs1330776023	p.Phe822Ser	missense variant	-	NC_000001.11:g.207564183T>C	gnomAD
rs1472141634	p.Gln827Lys	missense variant	-	NC_000001.11:g.207564197C>A	gnomAD
rs368907207	p.Gln827His	missense variant	-	NC_000001.11:g.207564199G>T	ESP,ExAC,TOPMed,gnomAD
rs751935590	p.Lys831Glu	missense variant	-	NC_000001.11:g.207564209A>G	ExAC,TOPMed,gnomAD
rs757631233	p.Lys831Arg	missense variant	-	NC_000001.11:g.207564210A>G	ExAC,gnomAD
rs767107915	p.Val832Leu	missense variant	-	NC_000001.11:g.207564212G>C	ExAC,gnomAD
rs750106511	p.Asp837Asn	missense variant	-	NC_000001.11:g.207564227G>A	ExAC,gnomAD
rs1336336392	p.Gly839Ala	missense variant	-	NC_000001.11:g.207564234G>C	gnomAD
rs753215274	p.Phe840Cys	missense variant	-	NC_000001.11:g.207565840T>G	ExAC,TOPMed,gnomAD
rs181688823	p.Gln841Arg	missense variant	-	NC_000001.11:g.207565843A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1306297051	p.Lys843Arg	missense variant	-	NC_000001.11:g.207565849A>G	gnomAD
rs778669699	p.Ser845Arg	missense variant	-	NC_000001.11:g.207565856C>A	ExAC,gnomAD
rs199990810	p.Ser846Phe	missense variant	-	NC_000001.11:g.207565858C>T	ESP,ExAC,TOPMed,gnomAD
rs199990810	p.Ser846Cys	missense variant	-	NC_000001.11:g.207565858C>G	ESP,ExAC,TOPMed,gnomAD
rs758240530	p.Ser846Pro	missense variant	-	NC_000001.11:g.207565857T>C	ExAC,gnomAD
rs1174374251	p.Ala847Ser	missense variant	-	NC_000001.11:g.207565860G>T	TOPMed,gnomAD
COSM4027627	p.Tyr849Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207565867A>G	NCI-TCGA Cosmic
rs991603750	p.Leu852Phe	missense variant	-	NC_000001.11:g.207565877G>C	TOPMed
rs775786887	p.Ala853Thr	missense variant	-	NC_000001.11:g.207565878G>A	ExAC,gnomAD
rs1413770280	p.Gly854Arg	missense variant	-	NC_000001.11:g.207565881G>C	TOPMed,gnomAD
rs1464911781	p.Gly854Val	missense variant	-	NC_000001.11:g.207565882G>T	TOPMed,gnomAD
rs1348639928	p.Met855Thr	missense variant	-	NC_000001.11:g.207565885T>C	TOPMed
rs774806895	p.Met855Leu	missense variant	-	NC_000001.11:g.207565884A>T	ExAC,gnomAD
rs200885342	p.Glu856Lys	missense variant	-	NC_000001.11:g.207565887G>A	ESP,ExAC,TOPMed,gnomAD
rs1240057615	p.Trp859Cys	missense variant	-	NC_000001.11:g.207565898G>C	TOPMed
NCI-TCGA novel	p.Trp859Leu	missense variant	-	NC_000001.11:g.207565897G>T	NCI-TCGA
rs761027851	p.Ser862Asn	missense variant	-	NC_000001.11:g.207565906G>A	ExAC,gnomAD
rs971470532	p.Ser862Arg	missense variant	-	NC_000001.11:g.207565907T>G	TOPMed,gnomAD
rs765886000	p.Val863Ile	missense variant	-	NC_000001.11:g.207565908G>A	ExAC,TOPMed,gnomAD
rs201872183	p.Pro864Thr	missense variant	-	NC_000001.11:g.207565911C>A	ESP,ExAC,TOPMed,gnomAD
rs201872183	p.Pro864Ser	missense variant	-	NC_000001.11:g.207565911C>T	ESP,ExAC,TOPMed,gnomAD
COSM4027629	p.Cys866Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207565917T>C	NCI-TCGA Cosmic
rs1457796524	p.Glu867Lys	missense variant	-	NC_000001.11:g.207565920G>A	gnomAD
rs370291677	p.Gln868Lys	missense variant	-	NC_000001.11:g.207565923C>A	ESP,TOPMed,gnomAD
rs370291677	p.Gln868Ter	stop gained	-	NC_000001.11:g.207565923C>T	ESP,TOPMed,gnomAD
rs1221665821	p.Ile869Asn	missense variant	-	NC_000001.11:g.207567827T>A	gnomAD
rs773718302	p.Ile869Met	missense variant	-	NC_000001.11:g.207567828C>G	ExAC
NCI-TCGA novel	p.Ile869ThrPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.207567827T>-	NCI-TCGA
NCI-TCGA novel	p.Phe870Leu	missense variant	-	NC_000001.11:g.207567829T>C	NCI-TCGA
rs760895493	p.Cys871Trp	missense variant	-	NC_000001.11:g.207567834T>G	ExAC,gnomAD
rs1489844815	p.Cys871Tyr	missense variant	-	NC_000001.11:g.207567833G>A	gnomAD
rs1264749949	p.Cys871Gly	missense variant	-	NC_000001.11:g.207567832T>G	gnomAD
rs771362085	p.Pro872Thr	missense variant	-	NC_000001.11:g.207567835C>A	ExAC,TOPMed,gnomAD
COSM5131020	p.Pro874Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207567841C>A	NCI-TCGA Cosmic
rs1473041661	p.Pro874Ser	missense variant	-	NC_000001.11:g.207567841C>T	gnomAD
NCI-TCGA novel	p.Pro874His	missense variant	-	NC_000001.11:g.207567842C>A	NCI-TCGA
rs1181808330	p.Pro875Ala	missense variant	-	NC_000001.11:g.207567844C>G	TOPMed,gnomAD
rs1181808330	p.Pro875Ser	missense variant	-	NC_000001.11:g.207567844C>T	TOPMed,gnomAD
rs149099494	p.Val876Ala	missense variant	-	NC_000001.11:g.207567848T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1165614076	p.Ile877Thr	missense variant	-	NC_000001.11:g.207567851T>C	TOPMed,gnomAD
rs368350236	p.Ile877Val	missense variant	-	NC_000001.11:g.207567850A>G	ESP,ExAC,TOPMed,gnomAD
COSM3482693	p.Pro878Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207567853C>T	NCI-TCGA Cosmic
rs1423351763	p.Asn879Thr	missense variant	-	NC_000001.11:g.207567857A>C	gnomAD
rs372043685	p.Asn879Lys	missense variant	-	NC_000001.11:g.207567858T>G	ESP,TOPMed,gnomAD
NCI-TCGA novel	p.Gly880Val	missense variant	-	NC_000001.11:g.207567860G>T	NCI-TCGA
rs201131753	p.His882Asn	missense variant	-	NC_000001.11:g.207567865C>A	ESP,ExAC,TOPMed,gnomAD
rs762557988	p.His882Gln	missense variant	-	NC_000001.11:g.207567867C>A	ExAC,gnomAD
rs201131753	p.His882Tyr	missense variant	-	NC_000001.11:g.207567865C>T	ESP,ExAC,TOPMed,gnomAD
COSM3482695	p.Gly884Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207567872G>A	NCI-TCGA Cosmic
rs764066230	p.Lys885Arg	missense variant	-	NC_000001.11:g.207567875A>G	ExAC,gnomAD
rs751577790	p.Pro886Thr	missense variant	-	NC_000001.11:g.207567877C>A	ExAC,TOPMed,gnomAD
rs751577790	p.Pro886Ser	missense variant	-	NC_000001.11:g.207567877C>T	ExAC,TOPMed,gnomAD
rs1311448168	p.Glu888Gln	missense variant	-	NC_000001.11:g.207567883G>C	gnomAD
rs1357146819	p.Val889Gly	missense variant	-	NC_000001.11:g.207567887T>G	gnomAD
rs1275076141	p.Pro891Arg	missense variant	-	NC_000001.11:g.207567893C>G	gnomAD
rs372477607	p.Pro891Ser	missense variant	-	NC_000001.11:g.207567892C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs781087630	p.Phe892Ile	missense variant	-	NC_000001.11:g.207567895T>A	ExAC,TOPMed,gnomAD
rs781087630	p.Phe892Leu	missense variant	-	NC_000001.11:g.207567895T>C	ExAC,TOPMed,gnomAD
rs748164192	p.Lys894Asn	missense variant	-	NC_000001.11:g.207567903A>C	ExAC,gnomAD
rs779108707	p.Lys894Thr	missense variant	-	NC_000001.11:g.207567902A>C	ExAC,gnomAD
rs202021797	p.Ala895Pro	missense variant	-	NC_000001.11:g.207567904G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs747595626	p.Ala895Glu	missense variant	-	NC_000001.11:g.207567905C>A	ExAC,gnomAD
rs747595626	p.Ala895Gly	missense variant	-	NC_000001.11:g.207567905C>G	ExAC,gnomAD
rs202021797	p.Ala895Thr	missense variant	-	NC_000001.11:g.207567904G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs745504173	p.Asn897Ser	missense variant	-	NC_000001.11:g.207567911A>G	ExAC,TOPMed,gnomAD
COSM6060836	p.Thr899Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207567917C>A	NCI-TCGA Cosmic
rs1391329090	p.Thr899Ala	missense variant	-	NC_000001.11:g.207567916A>G	gnomAD
rs1015070666	p.Cys900Tyr	missense variant	-	NC_000001.11:g.207567920G>A	TOPMed,gnomAD
rs374989718	p.Cys900Ter	stop gained	-	NC_000001.11:g.207567921C>A	ESP,ExAC,TOPMed,gnomAD
rs374989718	p.Cys900Trp	missense variant	-	NC_000001.11:g.207567921C>G	ESP,ExAC,TOPMed,gnomAD
rs775295497	p.Cys900Gly	missense variant	-	NC_000001.11:g.207567919T>G	ExAC,gnomAD
rs571845275	p.Asp901Tyr	missense variant	-	NC_000001.11:g.207567922G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs571845275	p.Asp901Asn	missense variant	-	NC_000001.11:g.207567922G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs761866338	p.Asp901Glu	missense variant	-	NC_000001.11:g.207567924C>A	ExAC,gnomAD
rs1183095958	p.Pro902His	missense variant	-	NC_000001.11:g.207567926C>A	TOPMed
rs767210068	p.His903Arg	missense variant	-	NC_000001.11:g.207567929A>G	ExAC
COSM903151	p.Pro904Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207567931C>T	NCI-TCGA Cosmic
rs534360109	p.Pro904Arg	missense variant	-	NC_000001.11:g.207567932C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1280533160	p.Asp905Glu	missense variant	-	NC_000001.11:g.207567936C>G	gnomAD
rs1212539706	p.Asp905Asn	missense variant	-	NC_000001.11:g.207567934G>A	gnomAD
COSM3482699	p.Arg906Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207567938G>A	NCI-TCGA Cosmic
rs1262040038	p.Arg906Ser	missense variant	-	NC_000001.11:g.207567939A>T	TOPMed
rs370005351	p.Thr908Met	missense variant	-	NC_000001.11:g.207567944C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe910Leu	missense variant	-	NC_000001.11:g.207567949T>C	NCI-TCGA
rs184230550	p.Asp911Val	missense variant	-	NC_000001.11:g.207567953A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs777884906	p.Asp911Asn	missense variant	-	NC_000001.11:g.207567952G>A	ExAC,TOPMed,gnomAD
rs781556299	p.Ile913Ser	missense variant	-	NC_000001.11:g.207567959T>G	ExAC,gnomAD
rs781556299	p.Ile913Thr	missense variant	-	NC_000001.11:g.207567959T>C	ExAC,gnomAD
rs1475400936	p.Ile913Val	missense variant	-	NC_000001.11:g.207567958A>G	gnomAD
rs775251803	p.Glu915Asp	missense variant	-	NC_000001.11:g.207567966G>C	ExAC,TOPMed,gnomAD
rs1363859112	p.Glu915Gly	missense variant	-	NC_000001.11:g.207567965A>G	TOPMed
COSM6060834	p.Ser916Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207567969C>A	NCI-TCGA Cosmic
rs1458324453	p.Thr917Pro	missense variant	-	NC_000001.11:g.207567970A>C	gnomAD
rs768266054	p.Thr917Ile	missense variant	-	NC_000001.11:g.207567971C>T	ExAC,gnomAD
rs773977331	p.Ile918Met	missense variant	-	NC_000001.11:g.207567975C>G	ExAC,TOPMed,gnomAD
rs761231049	p.Arg919Cys	missense variant	-	NC_000001.11:g.207567976C>T	ExAC,TOPMed,gnomAD
rs374276678	p.Arg919His	missense variant	-	NC_000001.11:g.207567977G>A	ESP,ExAC,TOPMed,gnomAD
rs761231049	p.Arg919Ser	missense variant	-	NC_000001.11:g.207567976C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg919Leu	missense variant	-	NC_000001.11:g.207567977G>T	NCI-TCGA
rs1367970413	p.Cys920Gly	missense variant	-	NC_000001.11:g.207567979T>G	gnomAD
rs1262700810	p.Ser922Ile	missense variant	-	NC_000001.11:g.207567986G>T	gnomAD
rs760418677	p.Pro924Ala	missense variant	-	NC_000001.11:g.207567991C>G	ExAC,gnomAD
rs1268890328	p.Gln925Arg	missense variant	-	NC_000001.11:g.207567995A>G	TOPMed,gnomAD
rs200795754	p.Gln925Lys	missense variant	-	NC_000001.11:g.207567994C>A	ExAC,gnomAD
COSM3482701	p.Gly926Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207567998G>A	NCI-TCGA Cosmic
rs752899033	p.Gly926Arg	missense variant	-	NC_000001.11:g.207567997G>A	ExAC,TOPMed,gnomAD
rs1248982724	p.Asn927Lys	missense variant	-	NC_000001.11:g.207568002T>A	gnomAD
NCI-TCGA novel	p.Val929PhePheSerTerUnkUnk	frameshift	-	NC_000001.11:g.207568003G>-	NCI-TCGA
NCI-TCGA novel	p.Ser932Ile	missense variant	-	NC_000001.11:g.207568016G>T	NCI-TCGA
rs751591351	p.Pro933Ser	missense variant	-	NC_000001.11:g.207568018C>T	ExAC,gnomAD
rs757299511	p.Ala934Asp	missense variant	-	NC_000001.11:g.207568022C>A	ExAC,gnomAD
COSM3482703	p.Pro935Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207568024C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro935LeuPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.207568024_207568025insT	NCI-TCGA
rs1191814074	p.Arg936Cys	missense variant	-	NC_000001.11:g.207568027C>T	TOPMed,gnomAD
rs746394762	p.Arg936His	missense variant	-	NC_000001.11:g.207568028G>A	ExAC,TOPMed,gnomAD
rs377522648	p.Ile939Thr	missense variant	-	NC_000001.11:g.207568037T>C	ESP,ExAC,TOPMed,gnomAD
rs1449928382	p.Gly941Ser	missense variant	-	NC_000001.11:g.207568042G>A	TOPMed,gnomAD
rs1421917723	p.Lys1005Glu	missense variant	-	NC_000001.11:g.207569858A>G	TOPMed
rs1168646960	p.Pro1008Gln	missense variant	-	NC_000001.11:g.207569868C>A	TOPMed
rs1245886273	p.Val1011Gly	missense variant	-	NC_000001.11:g.207569877T>G	TOPMed
rs953015213	p.Val1011Leu	missense variant	-	NC_000001.11:g.207569876G>T	TOPMed
rs1245886273	p.Val1011Ala	missense variant	-	NC_000001.11:g.207569877T>C	TOPMed
rs1469757540	p.Gly1013Ala	missense variant	-	NC_000001.11:g.207569883G>C	TOPMed
rs1253160229	p.Val1015Ala	missense variant	-	NC_000001.11:g.207569889T>C	TOPMed
rs1274705568	p.Ile1018Val	missense variant	-	NC_000001.11:g.207569897A>G	TOPMed
rs1214754336	p.Ile1018Met	missense variant	-	NC_000001.11:g.207569899C>G	TOPMed
rs1344800847	p.Gln1022His	missense variant	-	NC_000001.11:g.207569911G>T	TOPMed
rs1273419682	p.Thr1033Ala	missense variant	-	NC_000001.11:g.207569942A>G	TOPMed
rs1336741853	p.Gly1034Glu	missense variant	-	NC_000001.11:g.207569946G>A	TOPMed
rs1336741853	p.Gly1034Val	missense variant	-	NC_000001.11:g.207569946G>T	TOPMed
COSM4027631	p.His1035Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207575596C>T	NCI-TCGA Cosmic
rs1237612769	p.His1035Asp	missense variant	-	NC_000001.11:g.207575596C>G	TOPMed,gnomAD
rs747792543	p.His1035Gln	missense variant	-	NC_000001.11:g.207575598C>G	ExAC,gnomAD
rs1237612769	p.His1035Asn	missense variant	-	NC_000001.11:g.207575596C>A	TOPMed,gnomAD
rs771592989	p.Arg1036Ter	stop gained	-	NC_000001.11:g.207575599C>T	ExAC,TOPMed,gnomAD
rs777209480	p.Arg1036Leu	missense variant	-	NC_000001.11:g.207575600G>T	ExAC,TOPMed,gnomAD
rs777209480	p.Arg1036Gln	missense variant	-	NC_000001.11:g.207575600G>A	ExAC,TOPMed,gnomAD
COSM5117413	p.Leu1037Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207575603T>C	NCI-TCGA Cosmic
rs770792733	p.Ile1038Leu	missense variant	-	NC_000001.11:g.207575605A>C	ExAC,gnomAD
rs1408075849	p.His1040Tyr	missense variant	-	NC_000001.11:g.207575611C>T	TOPMed
rs776564592	p.His1040Gln	missense variant	-	NC_000001.11:g.207575613C>G	ExAC,gnomAD
rs763763079	p.Ser1042Ala	missense variant	-	NC_000001.11:g.207575617T>G	ExAC,TOPMed,gnomAD
rs763763079	p.Ser1042Pro	missense variant	-	NC_000001.11:g.207575617T>C	ExAC,TOPMed,gnomAD
rs1459719681	p.Glu1044Gln	missense variant	-	NC_000001.11:g.207575623G>C	TOPMed
rs570846321	p.Cys1045Arg	missense variant	-	NC_000001.11:g.207575626T>C	1000Genomes,ExAC,gnomAD
rs774602910	p.Ile1046Val	missense variant	-	NC_000001.11:g.207575629A>G	ExAC,TOPMed,gnomAD
rs201078030	p.Ile1046Asn	missense variant	-	NC_000001.11:g.207575630T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs553365200	p.Ser1048Leu	missense variant	-	NC_000001.11:g.207575636C>T	1000Genomes,ExAC,gnomAD
rs766940813	p.Gly1049Asp	missense variant	-	NC_000001.11:g.207575639G>A	ExAC,TOPMed,gnomAD
rs766940813	p.Gly1049Val	missense variant	-	NC_000001.11:g.207575639G>T	ExAC,TOPMed,gnomAD
rs754422784	p.Asn1050Ser	missense variant	-	NC_000001.11:g.207575642A>G	ExAC,TOPMed,gnomAD
rs755335900	p.Thr1051Ala	missense variant	-	NC_000001.11:g.207575644A>G	ExAC,TOPMed,gnomAD
rs779191296	p.Ala1052Thr	missense variant	-	NC_000001.11:g.207575647G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala1052Asp	missense variant	-	NC_000001.11:g.207575648C>A	NCI-TCGA
rs752383886	p.His1053Tyr	missense variant	-	NC_000001.11:g.207575650C>T	ExAC,gnomAD
rs758055423	p.His1053Gln	missense variant	-	NC_000001.11:g.207575652T>G	ExAC,TOPMed,gnomAD
rs1337602180	p.His1053Arg	missense variant	-	NC_000001.11:g.207575651A>G	TOPMed
rs777411818	p.Ser1055Asn	missense variant	-	NC_000001.11:g.207575657G>A	ExAC,TOPMed,gnomAD
rs1383957339	p.Ser1055Gly	missense variant	-	NC_000001.11:g.207575656A>G	TOPMed
rs746467906	p.Thr1056Met	missense variant	-	NC_000001.11:g.207575660C>T	ExAC,TOPMed,gnomAD
rs746467906	p.Thr1056Lys	missense variant	-	NC_000001.11:g.207575660C>A	ExAC,TOPMed,gnomAD
rs1367603804	p.Lys1057Asn	missense variant	-	NC_000001.11:g.207575664G>T	gnomAD
rs555835431	p.Pro1058Leu	missense variant	-	NC_000001.11:g.207575666C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs745847025	p.Pro1058Ser	missense variant	-	NC_000001.11:g.207575665C>T	ExAC,gnomAD
rs1383335271	p.Pro1059Arg	missense variant	-	NC_000001.11:g.207575669C>G	gnomAD
rs1386755543	p.Ile1060Thr	missense variant	-	NC_000001.11:g.207575672T>C	TOPMed
rs1187794880	p.Cys1061Gly	missense variant	-	NC_000001.11:g.207575674T>G	TOPMed
rs908445235	p.Gln1062Lys	missense variant	-	NC_000001.11:g.207575677C>A	TOPMed,gnomAD
rs1295283903	p.Gln1062Arg	missense variant	-	NC_000001.11:g.207575678A>G	gnomAD
rs1403506210	p.Arg1063Pro	missense variant	-	NC_000001.11:g.207577805G>C	gnomAD
rs374550920	p.Arg1063Ter	stop gained	-	NC_000001.11:g.207575680C>T	ESP,ExAC,TOPMed,gnomAD
COSM3482705	p.Pro1065Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207577810C>T	NCI-TCGA Cosmic
rs1373648733	p.Cys1066Arg	missense variant	-	NC_000001.11:g.207577813T>C	gnomAD
rs1195986892	p.Gly1067Glu	missense variant	-	NC_000001.11:g.207577817G>A	TOPMed
rs1469308908	p.Pro1069His	missense variant	-	NC_000001.11:g.207577823C>A	TOPMed
rs764482737	p.Pro1069Ser	missense variant	-	NC_000001.11:g.207577822C>T	ExAC,gnomAD
COSM6060830	p.Pro1070Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207577825C>A	NCI-TCGA Cosmic
rs756968920	p.Pro1070Ser	missense variant	-	NC_000001.11:g.207577825C>T	ExAC,TOPMed,gnomAD
rs767159288	p.Pro1070Arg	missense variant	-	NC_000001.11:g.207577826C>G	ExAC,gnomAD
rs779811757	p.Thr1071Ala	missense variant	-	NC_000001.11:g.207577828A>G	ExAC,TOPMed,gnomAD
rs754796360	p.Ile1072Thr	missense variant	-	NC_000001.11:g.207577832T>C	ExAC,TOPMed,gnomAD
rs527886855	p.Ile1072Val	missense variant	-	NC_000001.11:g.207577831A>G	1000Genomes,ExAC,gnomAD
rs187750583	p.Ala1073Thr	missense variant	-	NC_000001.11:g.207577834G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1426065925	p.Asn1074Lys	missense variant	-	NC_000001.11:g.207577839T>A	gnomAD
rs781494007	p.Gly1075Glu	missense variant	-	NC_000001.11:g.207577841G>A	ExAC,TOPMed,gnomAD
rs745890450	p.Asp1076Asn	missense variant	-	NC_000001.11:g.207577843G>A	ExAC,TOPMed,gnomAD
rs745890450	p.Asp1076His	missense variant	-	NC_000001.11:g.207577843G>C	ExAC,TOPMed,gnomAD
rs1423089942	p.Asp1076Glu	missense variant	-	NC_000001.11:g.207577845T>G	TOPMed,gnomAD
rs1170902959	p.Ile1078Ser	missense variant	-	NC_000001.11:g.207577850T>G	gnomAD
rs1330653516	p.Ser1079Asn	missense variant	-	NC_000001.11:g.207577853G>A	TOPMed
rs1170650435	p.Arg1082Gly	missense variant	-	NC_000001.11:g.207577861A>G	TOPMed
COSM903157	p.Glu1083Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207577866G>T	NCI-TCGA Cosmic
rs561267294	p.Glu1083Asp	missense variant	-	NC_000001.11:g.207577866G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs768997678	p.Asn1084Asp	missense variant	-	NC_000001.11:g.207577867A>G	ExAC,gnomAD
rs768997678	p.Asn1084Tyr	missense variant	-	NC_000001.11:g.207577867A>T	ExAC,gnomAD
rs762177173	p.His1086Arg	missense variant	-	NC_000001.11:g.207577874A>G	ExAC,gnomAD
NCI-TCGA novel	p.His1086SerPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.207577868_207577869insT	NCI-TCGA
rs1412213267	p.TyrGly1087Ter	stop gained	-	NC_000001.11:g.207577878_207577879del	gnomAD
rs767107916	p.Tyr1087Cys	missense variant	-	NC_000001.11:g.207577877A>G	ExAC,gnomAD
rs1314240617	p.Gly1088Ter	stop gained	-	NC_000001.11:g.207577879G>T	gnomAD
rs1454378623	p.Tyr1093Cys	missense variant	-	NC_000001.11:g.207577895A>G	TOPMed
rs772782879	p.Arg1094Cys	missense variant	-	NC_000001.11:g.207577897C>T	ExAC,TOPMed,gnomAD
rs752485037	p.Arg1094His	missense variant	-	NC_000001.11:g.207577898G>A	ExAC,TOPMed,gnomAD
rs1184324442	p.Cys1095Ter	stop gained	-	NC_000001.11:g.207577902C>A	gnomAD
rs758293909	p.Cys1095Tyr	missense variant	-	NC_000001.11:g.207577901G>A	ExAC,gnomAD
rs781234907	p.Asn1096Lys	missense variant	-	NC_000001.11:g.207577905T>A	ExAC,gnomAD
rs758851350	p.Asn1096LysArgTerValAspTerLeuTyrArgUnk	stop gained	-	NC_000001.11:g.207577904_207577905insAAGATGAGTAGACTGACTATATAGAG	ExAC
rs200111726	p.Leu1097Pro	missense variant	-	NC_000001.11:g.207577907T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs200111726	p.Leu1097Arg	missense variant	-	NC_000001.11:g.207577907T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs746142277	p.Leu1097Phe	missense variant	-	NC_000001.11:g.207577906C>T	ExAC
rs769092015	p.Arg1100Thr	missense variant	-	NC_000001.11:g.207577916G>C	ExAC,gnomAD
rs769092015	p.Arg1100Ile	missense variant	-	NC_000001.11:g.207577916G>T	ExAC,gnomAD
rs202070239	p.Arg1100Gly	missense variant	-	NC_000001.11:g.207577915A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1409764234	p.Gly1101Arg	missense variant	-	NC_000001.11:g.207577918G>A	gnomAD
rs774860182	p.Lys1103Asn	missense variant	-	NC_000001.11:g.207577926G>T	ExAC,TOPMed,gnomAD
rs762125782	p.Glu1106Lys	missense variant	-	NC_000001.11:g.207577933G>A	ExAC,gnomAD
rs772522776	p.Leu1107Val	missense variant	-	NC_000001.11:g.207577936C>G	ExAC,gnomAD
rs772522776	p.Leu1107Phe	missense variant	-	NC_000001.11:g.207577936C>T	ExAC,gnomAD
COSM903159	p.Val1108Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207577940T>G	NCI-TCGA Cosmic
rs1270543142	p.Val1108Ala	missense variant	-	NC_000001.11:g.207577940T>C	gnomAD
rs1282812707	p.Gly1109Val	missense variant	-	NC_000001.11:g.207577943G>T	TOPMed
rs1212592417	p.Glu1110Lys	missense variant	-	NC_000001.11:g.207577945G>A	gnomAD
NCI-TCGA novel	p.Glu1110Gln	missense variant	-	NC_000001.11:g.207577945G>C	NCI-TCGA
rs1293651285	p.Pro1111Leu	missense variant	-	NC_000001.11:g.207577949C>T	gnomAD
rs984613445	p.Ile1113Val	missense variant	-	NC_000001.11:g.207577954A>G	TOPMed,gnomAD
rs765800008	p.Ile1113Met	missense variant	-	NC_000001.11:g.207577956A>G	ExAC,gnomAD
rs1262658729	p.Tyr1114His	missense variant	-	NC_000001.11:g.207577957T>C	gnomAD
NCI-TCGA novel	p.Tyr1114Ter	stop gained	-	NC_000001.11:g.207577959C>A	NCI-TCGA
rs1308396686	p.Thr1116Pro	missense variant	-	NC_000001.11:g.207577963A>C	TOPMed
rs1389630111	p.Thr1116Ser	missense variant	-	NC_000001.11:g.207577964C>G	TOPMed
NCI-TCGA novel	p.Thr1116Ala	missense variant	-	NC_000001.11:g.207577963A>G	NCI-TCGA
NCI-TCGA novel	p.Ser1117Asn	missense variant	-	NC_000001.11:g.207577967G>A	NCI-TCGA
rs1460360122	p.Asn1118Lys	missense variant	-	NC_000001.11:g.207577971T>A	TOPMed,gnomAD
rs753325833	p.Asn1118Asp	missense variant	-	NC_000001.11:g.207577969A>G	ExAC
rs1243203429	p.Asp1119Gly	missense variant	-	NC_000001.11:g.207577973A>G	TOPMed,gnomAD
rs765221100	p.Asp1120His	missense variant	-	NC_000001.11:g.207577975G>C	ExAC,TOPMed,gnomAD
rs765221100	p.Asp1120Tyr	missense variant	-	NC_000001.11:g.207577975G>T	ExAC,TOPMed,gnomAD
rs1314381180	p.Asp1120Val	missense variant	-	NC_000001.11:g.207577976A>T	TOPMed
rs765221100	p.Asp1120Asn	missense variant	-	NC_000001.11:g.207577975G>A	ExAC,TOPMed,gnomAD
rs758236755	p.Val1122Ala	missense variant	-	NC_000001.11:g.207577982T>C	ExAC,gnomAD
rs758236755	p.Val1122Gly	missense variant	-	NC_000001.11:g.207577982T>G	ExAC,gnomAD
rs750598422	p.Ile1124Met	missense variant	-	NC_000001.11:g.207577989C>G	ExAC,TOPMed,gnomAD
rs1175086359	p.Ile1124Leu	missense variant	-	NC_000001.11:g.207577987A>C	gnomAD
rs756426946	p.Trp1125Arg	missense variant	-	NC_000001.11:g.207577990T>A	ExAC,gnomAD
rs1318816146	p.Ser1126Gly	missense variant	-	NC_000001.11:g.207577993A>G	gnomAD
rs749316044	p.Gly1127Ser	missense variant	-	NC_000001.11:g.207577996G>A	ExAC,TOPMed,gnomAD
rs1295120917	p.Gly1127Val	missense variant	-	NC_000001.11:g.207577997G>T	gnomAD
rs1421409370	p.Pro1128His	missense variant	-	NC_000001.11:g.207578000C>A	TOPMed
NCI-TCGA novel	p.Pro1128Leu	missense variant	-	NC_000001.11:g.207578000C>T	NCI-TCGA
rs201139679	p.Ala1129Pro	missense variant	-	NC_000001.11:g.207578002G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1282898634	p.Ala1129Val	missense variant	-	NC_000001.11:g.207578003C>T	gnomAD
rs201139679	p.Ala1129Thr	missense variant	-	NC_000001.11:g.207578002G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1282898634	p.Ala1129Gly	missense variant	-	NC_000001.11:g.207578003C>G	gnomAD
NCI-TCGA novel	p.Pro1130Ser	missense variant	-	NC_000001.11:g.207578005C>T	NCI-TCGA
rs1259840716	p.Gln1131His	missense variant	-	NC_000001.11:g.207578010G>C	TOPMed
rs1225565505	p.Cys1132Gly	missense variant	-	NC_000001.11:g.207578011T>G	gnomAD
rs747336966	p.Cys1132Tyr	missense variant	-	NC_000001.11:g.207578012G>A	ExAC,gnomAD
rs1052621279	p.Ile1134Thr	missense variant	-	NC_000001.11:g.207578018T>C	TOPMed,gnomAD
rs1214048976	p.Pro1135Ser	missense variant	-	NC_000001.11:g.207578020C>T	gnomAD
rs770561116	p.Pro1135Leu	missense variant	-	NC_000001.11:g.207578021C>T	ExAC,gnomAD
rs534561631	p.Thr1139Met	missense variant	-	NC_000001.11:g.207578033C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs534561631	p.Thr1139Arg	missense variant	-	NC_000001.11:g.207578033C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1043874726	p.Pro1141Leu	missense variant	-	NC_000001.11:g.207578039C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Pro1141Gln	missense variant	-	NC_000001.11:g.207578039C>A	NCI-TCGA
NCI-TCGA novel	p.Pro1141Thr	missense variant	-	NC_000001.11:g.207578038C>A	NCI-TCGA
rs1266340909	p.Asn1145Asp	missense variant	-	NC_000001.11:g.207578050A>G	gnomAD
rs1158666652	p.Gly1146Glu	missense variant	-	NC_000001.11:g.207578054G>A	gnomAD
rs775546714	p.Gly1146Arg	missense variant	-	NC_000001.11:g.207578053G>A	ExAC,gnomAD
rs193112197	p.Ile1147Thr	missense variant	-	NC_000001.11:g.207578057T>C	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ile1147Val	missense variant	-	NC_000001.11:g.207578056A>G	NCI-TCGA
rs763794161	p.Leu1148Ser	missense variant	-	NC_000001.11:g.207578060T>C	ExAC,TOPMed,gnomAD
rs757023579	p.Ser1150Cys	missense variant	-	NC_000001.11:g.207578066C>G	ExAC,gnomAD
rs1302737744	p.Asp1151Gly	missense variant	-	NC_000001.11:g.207578069A>G	TOPMed,gnomAD
rs372881623	p.Asn1152Asp	missense variant	-	NC_000001.11:g.207578071A>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asn1152Lys	missense variant	-	NC_000001.11:g.207578073C>A	NCI-TCGA
rs1444432198	p.Arg1153Gly	missense variant	-	NC_000001.11:g.207578074A>G	gnomAD
rs754099919	p.Arg1153Ile	missense variant	-	NC_000001.11:g.207578075G>T	ExAC,gnomAD
rs755023746	p.Ser1154Thr	missense variant	-	NC_000001.11:g.207578078G>C	ExAC,gnomAD
NCI-TCGA novel	p.Ser1157Phe	missense variant	-	NC_000001.11:g.207578087C>T	NCI-TCGA
rs779018569	p.Asn1159Lys	missense variant	-	NC_000001.11:g.207578094T>G	ExAC,gnomAD
rs1002257467	p.Asn1159Ser	missense variant	-	NC_000001.11:g.207578093A>G	TOPMed
rs200347439	p.Val1161Gly	missense variant	-	NC_000001.11:g.207578099T>G	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg1165Met	missense variant	-	NC_000001.11:g.207578111G>T	NCI-TCGA
rs758870432	p.Phe1170Ile	missense variant	-	NC_000001.11:g.207578125T>A	ExAC,TOPMed,gnomAD
rs1266265194	p.Val1171Gly	missense variant	-	NC_000001.11:g.207578129T>G	gnomAD
rs1222260909	p.Val1171Phe	missense variant	-	NC_000001.11:g.207578128G>T	gnomAD
rs778158566	p.Lys1173Glu	missense variant	-	NC_000001.11:g.207578134A>G	ExAC,gnomAD
rs747352862	p.Lys1173Asn	missense variant	-	NC_000001.11:g.207578136A>T	ExAC,gnomAD
rs1181867961	p.Lys1173Arg	missense variant	-	NC_000001.11:g.207578135A>G	TOPMed,gnomAD
rs771234874	p.Pro1175Ser	missense variant	-	NC_000001.11:g.207578140C>T	ExAC,TOPMed,gnomAD
rs771234874	p.Pro1175Thr	missense variant	-	NC_000001.11:g.207578140C>A	ExAC,TOPMed,gnomAD
rs61297619	p.Arg1176His	missense variant	-	NC_000001.11:g.207578144G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs776396416	p.Arg1176Cys	missense variant	-	NC_000001.11:g.207578143C>T	ExAC,TOPMed,gnomAD
rs532533959	p.Arg1177His	missense variant	-	NC_000001.11:g.207578147G>A	ExAC,TOPMed,gnomAD
rs769416269	p.Arg1177Cys	missense variant	-	NC_000001.11:g.207578146C>T	ExAC,TOPMed,gnomAD
rs1329610747	p.Val1178Met	missense variant	-	NC_000001.11:g.207578149G>A	gnomAD
rs1371411457	p.Lys1179Gln	missense variant	-	NC_000001.11:g.207578152A>C	TOPMed,gnomAD
rs762375862	p.Cys1180Tyr	missense variant	-	NC_000001.11:g.207578156G>A	ExAC,gnomAD
rs764041246	p.Gln1181Arg	missense variant	-	NC_000001.11:g.207578159A>G	ExAC,gnomAD
rs764041246	p.Gln1181Leu	missense variant	-	NC_000001.11:g.207578159A>T	ExAC,gnomAD
rs761637384	p.Ala1182Thr	missense variant	-	NC_000001.11:g.207578161G>A	ExAC,gnomAD
rs1026222975	p.Trp1186Ser	missense variant	-	NC_000001.11:g.207578174G>C	TOPMed
rs1296549315	p.Pro1188Thr	missense variant	-	NC_000001.11:g.207578179C>A	TOPMed,gnomAD
rs1290093963	p.Pro1191Ser	missense variant	-	NC_000001.11:g.207578188C>T	gnomAD
rs1230422490	p.Pro1191Gln	missense variant	-	NC_000001.11:g.207578189C>A	gnomAD
rs1341035454	p.Ser1192Gly	missense variant	-	NC_000001.11:g.207578191A>G	gnomAD
COSM903161	p.Cys1193Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.207578196C>A	NCI-TCGA Cosmic
rs1271856175	p.Arg1195Ser	missense variant	-	NC_000001.11:g.207578202G>T	gnomAD
rs1318119342	p.Val1196Ala	missense variant	-	NC_000001.11:g.207580240T>C	TOPMed,gnomAD
rs1318119342	p.Val1196Glu	missense variant	-	NC_000001.11:g.207580240T>A	TOPMed,gnomAD
rs1435525629	p.Val1196Leu	missense variant	-	NC_000001.11:g.207578203G>T	gnomAD
rs1391120629	p.Cys1197Tyr	missense variant	-	NC_000001.11:g.207580243G>A	TOPMed,gnomAD
rs1182589727	p.Cys1197Gly	missense variant	-	NC_000001.11:g.207580242T>G	TOPMed
rs1337954518	p.Gln1198His	missense variant	-	NC_000001.11:g.207580247G>C	TOPMed,gnomAD
rs147654348	p.Pro1199Leu	missense variant	-	NC_000001.11:g.207580249C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs779818824	p.Pro1201Leu	missense variant	-	NC_000001.11:g.207580255C>T	ExAC,gnomAD
rs1268320980	p.Ile1203Thr	missense variant	-	NC_000001.11:g.207580261T>C	TOPMed
COSM903165	p.Leu1204Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207580263C>A	NCI-TCGA Cosmic
rs768195052	p.Gly1206Asp	missense variant	-	NC_000001.11:g.207580270G>A	ExAC,gnomAD
rs768195052	p.Gly1206Ala	missense variant	-	NC_000001.11:g.207580270G>C	ExAC,gnomAD
rs568448743	p.Glu1207Lys	missense variant	-	NC_000001.11:g.207580272G>A	1000Genomes,TOPMed,gnomAD
rs2274567	p.His1208Arg	missense variant	-	NC_000001.11:g.207580276A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs2274567	p.His1208Arg	missense variant	-	NC_000001.11:g.207580276A>G	UniProt,dbSNP
VAR_013819	p.His1208Arg	missense variant	-	NC_000001.11:g.207580276A>G	UniProt
rs778352919	p.His1208Tyr	missense variant	-	NC_000001.11:g.207580275C>T	ExAC,gnomAD
rs771937604	p.Pro1210Leu	missense variant	-	NC_000001.11:g.207580282C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ser1211Asn	missense variant	-	NC_000001.11:g.207580285G>A	NCI-TCGA
NCI-TCGA novel	p.Gln1213Glu	missense variant	-	NC_000001.11:g.207580290C>G	NCI-TCGA
rs1228449396	p.Asp1214Glu	missense variant	-	NC_000001.11:g.207580295C>G	TOPMed
rs141954836	p.Asn1215Lys	missense variant	-	NC_000001.11:g.207580298C>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asn1215Lys	missense variant	-	NC_000001.11:g.207580298C>G	NCI-TCGA
COSM425177	p.Ser1217Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207580303C>T	NCI-TCGA Cosmic
rs1158339739	p.Ser1217Ala	missense variant	-	NC_000001.11:g.207580302T>G	gnomAD
rs770754228	p.Pro1218Ser	missense variant	-	NC_000001.11:g.207580305C>T	ExAC,gnomAD
rs1407154782	p.Pro1218Arg	missense variant	-	NC_000001.11:g.207580306C>G	gnomAD
rs1437672373	p.Gly1219Arg	missense variant	-	NC_000001.11:g.207580308G>A	TOPMed
rs775760258	p.Gly1219Glu	missense variant	-	NC_000001.11:g.207580309G>A	ExAC,gnomAD
COSM3482711	p.Glu1221Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207580314G>A	NCI-TCGA Cosmic
COSM260281	p.Phe1223Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207580322C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Tyr1224Cys	missense variant	-	NC_000001.11:g.207580324A>G	NCI-TCGA
rs1325396913	p.Ser1225Thr	missense variant	-	NC_000001.11:g.207580327G>C	TOPMed
rs199540863	p.Ser1225Gly	missense variant	-	NC_000001.11:g.207580326A>G	1000Genomes,ExAC,gnomAD
rs764234206	p.Glu1227Asp	missense variant	-	NC_000001.11:g.207580334G>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu1227Gly	missense variant	-	NC_000001.11:g.207580333A>G	NCI-TCGA
COSM3482715	p.Pro1228Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207580336C>T	NCI-TCGA Cosmic
rs1370479963	p.Pro1228Thr	missense variant	-	NC_000001.11:g.207580335C>A	TOPMed
NCI-TCGA novel	p.Gly1229AlaPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.207580338G>-	NCI-TCGA
rs762000312	p.Tyr1230His	missense variant	-	NC_000001.11:g.207580341T>C	ExAC,gnomAD
rs1283818647	p.Asp1231Gly	missense variant	-	NC_000001.11:g.207580345A>G	TOPMed,gnomAD
rs1222977501	p.Leu1232Phe	missense variant	-	NC_000001.11:g.207580347C>T	TOPMed,gnomAD
COSM678857	p.Arg1233Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207580352A>T	NCI-TCGA Cosmic
rs899385543	p.Arg1233Thr	missense variant	-	NC_000001.11:g.207580351G>C	TOPMed
rs1189542902	p.Ala1235Thr	missense variant	-	NC_000001.11:g.207580356G>A	TOPMed,gnomAD
rs1189542902	p.Ala1235Ser	missense variant	-	NC_000001.11:g.207580356G>T	TOPMed,gnomAD
rs756522188	p.Ala1235Val	missense variant	-	NC_000001.11:g.207580357C>T	ExAC,gnomAD
rs539603642	p.Ala1236Val	missense variant	-	NC_000001.11:g.207580360C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs539603642	p.Ala1236Glu	missense variant	-	NC_000001.11:g.207580360C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs766708027	p.Ala1236Thr	missense variant	-	NC_000001.11:g.207580359G>A	ExAC,gnomAD
COSM4027635	p.Ser1237Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207580363C>T	NCI-TCGA Cosmic
rs1306443898	p.Cys1240Arg	missense variant	-	NC_000001.11:g.207580371T>C	TOPMed
rs747606332	p.Gly1244Val	missense variant	-	NC_000001.11:g.207580384G>T	ExAC,gnomAD
NCI-TCGA novel	p.Asp1245Val	missense variant	-	NC_000001.11:g.207580387A>T	NCI-TCGA
rs1029077663	p.Trp1246Cys	missense variant	-	NC_000001.11:g.207580391G>T	TOPMed
COSM4027637	p.Glu1249Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207580399A>C	NCI-TCGA Cosmic
rs1299375945	p.Ala1250Thr	missense variant	-	NC_000001.11:g.207580401G>A	gnomAD
rs368172549	p.Pro1251Leu	missense variant	-	NC_000001.11:g.207580405C>T	ESP,ExAC,TOPMed,gnomAD
rs770700783	p.Ala1254Ser	missense variant	-	NC_000001.11:g.207580413G>T	ExAC,TOPMed,gnomAD
rs776361283	p.Ala1254Glu	missense variant	-	NC_000001.11:g.207580414C>A	ExAC,gnomAD
NCI-TCGA novel	p.Cys1258Ser	missense variant	-	NC_000001.11:g.207580520G>C	NCI-TCGA
rs1188706782	p.Phe1261Leu	missense variant	-	NC_000001.11:g.207580530C>A	TOPMed,gnomAD
rs1482459919	p.Phe1261Ile	missense variant	-	NC_000001.11:g.207580528T>A	gnomAD
rs772270332	p.Leu1262Ser	missense variant	-	NC_000001.11:g.207580532T>C	ExAC,gnomAD
rs1477327262	p.Gly1263Arg	missense variant	-	NC_000001.11:g.207580534G>C	gnomAD
NCI-TCGA novel	p.Gly1263Cys	missense variant	-	NC_000001.11:g.207580534G>T	NCI-TCGA
rs773359118	p.Leu1265Phe	missense variant	-	NC_000001.11:g.207580540C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu1265Pro	missense variant	-	NC_000001.11:g.207580541T>C	NCI-TCGA
NCI-TCGA novel	p.His1267Asp	missense variant	-	NC_000001.11:g.207580546C>G	NCI-TCGA
rs372833120	p.Gly1268Val	missense variant	-	NC_000001.11:g.207580550G>T	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Gly1268Cys	missense variant	-	NC_000001.11:g.207580549G>T	NCI-TCGA
rs376975386	p.Arg1269Cys	missense variant	-	NC_000001.11:g.207580552C>T	ESP,ExAC,TOPMed,gnomAD
rs369632766	p.Arg1269His	missense variant	-	NC_000001.11:g.207580553G>A	ESP,ExAC,TOPMed,gnomAD
rs1399695339	p.Val1270Met	missense variant	-	NC_000001.11:g.207580555G>A	TOPMed,gnomAD
rs752333319	p.Pro1273Arg	missense variant	-	NC_000001.11:g.207580565C>G	ExAC,gnomAD
NCI-TCGA novel	p.Pro1273Ser	missense variant	-	NC_000001.11:g.207580564C>T	NCI-TCGA
rs1325680043	p.Leu1274Arg	missense variant	-	NC_000001.11:g.207580568T>G	gnomAD
rs762660563	p.Asn1275Ile	missense variant	-	NC_000001.11:g.207580571A>T	ExAC,gnomAD
rs763744346	p.Leu1278Pro	missense variant	-	NC_000001.11:g.207580580T>C	ExAC,gnomAD
rs751016624	p.Gly1279Val	missense variant	-	NC_000001.11:g.207580583G>T	ExAC,TOPMed,gnomAD
rs751016624	p.Gly1279Glu	missense variant	-	NC_000001.11:g.207580583G>A	ExAC,TOPMed,gnomAD
rs750420622	p.Ala1280Glu	missense variant	-	NC_000001.11:g.207580586C>A	ExAC,gnomAD
rs780954124	p.Ala1280Ser	missense variant	-	NC_000001.11:g.207580585G>T	ExAC,TOPMed,gnomAD
COSM4027639	p.Lys1281Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207580590G>T	NCI-TCGA Cosmic
rs755846047	p.Lys1281Thr	missense variant	-	NC_000001.11:g.207580589A>C	ExAC,gnomAD
rs1190970630	p.Lys1281Gln	missense variant	-	NC_000001.11:g.207580588A>C	gnomAD
NCI-TCGA novel	p.Val1282ArgPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.207580590_207580591insAGAGAAATCTGGAAGCCAGA	NCI-TCGA
rs780364837	p.Ser1283Tyr	missense variant	-	NC_000001.11:g.207580595C>A	ExAC,gnomAD
COSM256691	p.Val1285Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207580601T>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Val1285Phe	missense variant	-	NC_000001.11:g.207580600G>T	NCI-TCGA
rs778163453	p.Cys1286Tyr	missense variant	-	NC_000001.11:g.207580604G>A	ExAC,TOPMed,gnomAD
rs1344330313	p.Asp1287Asn	missense variant	-	NC_000001.11:g.207580606G>A	gnomAD
rs1409265368	p.Glu1288Asp	missense variant	-	NC_000001.11:g.207580611A>C	TOPMed
rs1439006454	p.Phe1290Ser	missense variant	-	NC_000001.11:g.207581920T>C	TOPMed,gnomAD
rs772031309	p.Arg1291His	missense variant	-	NC_000001.11:g.207581923G>A	ExAC,TOPMed,gnomAD
rs772031309	p.Arg1291Pro	missense variant	-	NC_000001.11:g.207581923G>C	ExAC,TOPMed,gnomAD
rs534155454	p.Arg1291Cys	missense variant	-	NC_000001.11:g.207581922C>T	ExAC,gnomAD
rs749615846	p.Leu1292Ser	missense variant	-	NC_000001.11:g.207581926T>C	ExAC,gnomAD
rs773976185	p.Gly1294Asp	missense variant	-	NC_000001.11:g.207581932G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser1296Phe	missense variant	-	NC_000001.11:g.207581938C>T	NCI-TCGA
rs200884156	p.Val1297Ile	missense variant	-	NC_000001.11:g.207581940G>A	ExAC,TOPMed,gnomAD
rs1332177319	p.Cys1300Trp	missense variant	-	NC_000001.11:g.207581951T>G	gnomAD
rs1271611232	p.Cys1300Gly	missense variant	-	NC_000001.11:g.207581949T>G	TOPMed
NCI-TCGA novel	p.Val1301Gly	missense variant	-	NC_000001.11:g.207581953T>G	NCI-TCGA
NCI-TCGA novel	p.Leu1302PhePheSerTerUnk	stop gained	-	NC_000001.11:g.207581956_207581957insCTAGTACTTCTTTTCCACCA	NCI-TCGA
rs772716917	p.Val1303Ile	missense variant	-	NC_000001.11:g.207581958G>A	ExAC,TOPMed,gnomAD
rs772716917	p.Val1303Phe	missense variant	-	NC_000001.11:g.207581958G>T	ExAC,TOPMed,gnomAD
rs375298677	p.Arg1306Thr	missense variant	-	NC_000001.11:g.207581968G>C	ESP,ExAC,gnomAD
rs754796667	p.Ser1307Thr	missense variant	-	NC_000001.11:g.207581971G>C	ExAC,gnomAD
rs765182428	p.Ser1307Arg	missense variant	-	NC_000001.11:g.207581972C>A	ExAC,gnomAD
rs1483053926	p.Trp1309Arg	missense variant	-	NC_000001.11:g.207581976T>C	TOPMed
rs757433947	p.Ser1312Asn	missense variant	-	NC_000001.11:g.207581986G>A	ExAC,gnomAD
rs999675652	p.Pro1314Ser	missense variant	-	NC_000001.11:g.207581991C>T	TOPMed,gnomAD
rs758153459	p.His1318Arg	missense variant	-	NC_000001.11:g.207584649A>G	ExAC,gnomAD
rs201880876	p.His1318Tyr	missense variant	-	NC_000001.11:g.207582003C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs758153459	p.His1318Leu	missense variant	-	NC_000001.11:g.207584649A>T	ExAC,gnomAD
rs767742956	p.Ile1319Asn	missense variant	-	NC_000001.11:g.207584652T>A	ExAC,gnomAD
rs767742956	p.Ile1319Thr	missense variant	-	NC_000001.11:g.207584652T>C	ExAC,gnomAD
COSM903173	p.Phe1320Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207584656T>G	NCI-TCGA Cosmic
rs1188554576	p.Phe1320Ile	missense variant	-	NC_000001.11:g.207584654T>A	TOPMed
rs750654400	p.Cys1321Ter	stop gained	-	NC_000001.11:g.207584659T>A	ExAC,gnomAD
rs756168060	p.Pro1322Gln	missense variant	-	NC_000001.11:g.207584661C>A	ExAC,gnomAD
rs1378690568	p.Pro1322Thr	missense variant	-	NC_000001.11:g.207584660C>A	gnomAD
rs1378690568	p.Pro1322Ser	missense variant	-	NC_000001.11:g.207584660C>T	gnomAD
COSM3864331	p.Pro1325Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207584669C>T	NCI-TCGA Cosmic
rs1387510234	p.Ala1326Ser	missense variant	-	NC_000001.11:g.207584672G>T	gnomAD
rs1297147019	p.Ile1327Thr	missense variant	-	NC_000001.11:g.207584676T>C	gnomAD
rs753917143	p.Ile1327Leu	missense variant	-	NC_000001.11:g.207584675A>C	ExAC,gnomAD
rs1406213894	p.Arg1331Lys	missense variant	-	NC_000001.11:g.207584688G>A	gnomAD
rs779307539	p.His1332Tyr	missense variant	-	NC_000001.11:g.207584690C>T	ExAC,TOPMed,gnomAD
rs772363143	p.Thr1333Lys	missense variant	-	NC_000001.11:g.207584694C>A	ExAC,gnomAD
rs748505080	p.Thr1333Ala	missense variant	-	NC_000001.11:g.207584693A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly1334Glu	missense variant	-	NC_000001.11:g.207584697G>A	NCI-TCGA
rs777457095	p.Thr1335Asn	missense variant	-	NC_000001.11:g.207584700C>A	ExAC,gnomAD
rs1354101840	p.Pro1336Ala	missense variant	-	NC_000001.11:g.207584702C>G	gnomAD
rs746715976	p.Pro1336Leu	missense variant	-	NC_000001.11:g.207584703C>T	ExAC,gnomAD
NCI-TCGA novel	p.Gly1338Glu	missense variant	-	NC_000001.11:g.207584709G>A	NCI-TCGA
rs1285555817	p.Asp1339Glu	missense variant	-	NC_000001.11:g.207584713T>A	gnomAD
rs776215792	p.Pro1341Arg	missense variant	-	NC_000001.11:g.207584718C>G	ExAC,TOPMed,gnomAD
rs770561633	p.Pro1341Ser	missense variant	-	NC_000001.11:g.207584717C>T	ExAC,gnomAD
rs776215792	p.Pro1341Leu	missense variant	-	NC_000001.11:g.207584718C>T	ExAC,TOPMed,gnomAD
rs752282568	p.Tyr1342Ser	missense variant	-	NC_000001.11:g.207584721A>C	TOPMed,gnomAD
COSM3482719	p.Gly1343Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207584724G>A	NCI-TCGA Cosmic
COSM3482717	p.Gly1343Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207584723G>A	NCI-TCGA Cosmic
rs759130591	p.Gly1343Ala	missense variant	-	NC_000001.11:g.207584724G>C	ExAC,gnomAD
NCI-TCGA novel	p.Glu1345Ter	stop gained	-	NC_000001.11:g.207584729G>T	NCI-TCGA
rs1341724706	p.Ile1346Val	missense variant	-	NC_000001.11:g.207584732A>G	TOPMed
rs769723094	p.Ser1347Thr	missense variant	-	NC_000001.11:g.207584735T>A	ExAC,gnomAD
rs1440675443	p.Tyr1348Ser	missense variant	-	NC_000001.11:g.207584739A>C	gnomAD
rs1358225488	p.Thr1349Ile	missense variant	-	NC_000001.11:g.207584742C>T	gnomAD
rs1312864919	p.Cys1350Ser	missense variant	-	NC_000001.11:g.207584744T>A	TOPMed
rs938044503	p.Asp1351Glu	missense variant	-	NC_000001.11:g.207584749C>A	TOPMed,gnomAD
rs915609384	p.Pro1352Ser	missense variant	-	NC_000001.11:g.207584750C>T	-
rs762783325	p.Gly1357Trp	missense variant	-	NC_000001.11:g.207584765G>T	ExAC,TOPMed,gnomAD
rs762783325	p.Gly1357Arg	missense variant	-	NC_000001.11:g.207584765G>A	ExAC,TOPMed,gnomAD
rs541225690	p.Thr1359Asn	missense variant	-	NC_000001.11:g.207584772C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1377622516	p.Asn1361Lys	missense variant	-	NC_000001.11:g.207584779C>A	gnomAD
rs1239127035	p.Leu1362Ile	missense variant	-	NC_000001.11:g.207584780C>A	gnomAD
rs199598381	p.Ile1363Ser	missense variant	-	NC_000001.11:g.207584784T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs199598381	p.Ile1363Thr	missense variant	-	NC_000001.11:g.207584784T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs766599172	p.Ile1363Val	missense variant	-	NC_000001.11:g.207584783A>G	ExAC,gnomAD
rs1459694440	p.Ile1368Thr	missense variant	-	NC_000001.11:g.207584799T>C	TOPMed
rs753192761	p.Arg1369Cys	missense variant	-	NC_000001.11:g.207584801C>T	ExAC,TOPMed,gnomAD
rs758774471	p.Arg1369His	missense variant	-	NC_000001.11:g.207584802G>A	ExAC,TOPMed,gnomAD
rs1260973761	p.Cys1370Tyr	missense variant	-	NC_000001.11:g.207584805G>A	TOPMed
rs778066743	p.Cys1370Arg	missense variant	-	NC_000001.11:g.207584804T>C	ExAC,TOPMed,gnomAD
rs747384502	p.Pro1374Leu	missense variant	-	NC_000001.11:g.207584817C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro1374His	missense variant	-	NC_000001.11:g.207584817C>A	NCI-TCGA
rs998252826	p.His1375Arg	missense variant	-	NC_000001.11:g.207584820A>G	gnomAD
NCI-TCGA novel	p.His1375Asp	missense variant	-	NC_000001.11:g.207584819C>G	NCI-TCGA
COSM3482723	p.Gly1376Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207584823G>A	NCI-TCGA Cosmic
rs1367555644	p.Gly1378Arg	missense variant	-	NC_000001.11:g.207584828G>A	gnomAD
rs781014972	p.Gly1378Ala	missense variant	-	NC_000001.11:g.207584829G>C	ExAC,TOPMed
rs372603184	p.Val1379Ile	missense variant	-	NC_000001.11:g.207584831G>A	ESP,ExAC,TOPMed,gnomAD
rs769231887	p.Ser1381Arg	missense variant	-	NC_000001.11:g.207584839C>A	ExAC,gnomAD
NCI-TCGA novel	p.Ser1381Asn	missense variant	-	NC_000001.11:g.207584838G>A	NCI-TCGA
rs574578676	p.Ser1382Asn	missense variant	-	NC_000001.11:g.207584841G>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro1383Leu	missense variant	-	NC_000001.11:g.207584844C>T	NCI-TCGA
rs180889860	p.Arg1386His	missense variant	-	NC_000001.11:g.207584853G>A	1000Genomes,ExAC,gnomAD
rs762859978	p.Arg1386Ser	missense variant	-	NC_000001.11:g.207584852C>A	ExAC,TOPMed,gnomAD
rs180889860	p.Arg1386Leu	missense variant	-	NC_000001.11:g.207584853G>T	1000Genomes,ExAC,gnomAD
rs762859978	p.Arg1386Cys	missense variant	-	NC_000001.11:g.207584852C>T	ExAC,TOPMed,gnomAD
COSM3482727	p.Leu1389Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207584861C>T	NCI-TCGA Cosmic
rs1217503383	p.Leu1389Pro	missense variant	-	NC_000001.11:g.207584862T>C	TOPMed
rs766544117	p.Arg1392Cys	missense variant	-	NC_000001.11:g.207584870C>T	ExAC,gnomAD
rs200621891	p.Arg1392His	missense variant	-	NC_000001.11:g.207584871G>A	ESP,ExAC,TOPMed,gnomAD
rs200621891	p.Arg1392Leu	missense variant	-	NC_000001.11:g.207584871G>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro1399Gln	missense variant	-	NC_000001.11:g.207587401C>A	NCI-TCGA
NCI-TCGA novel	p.Pro1399Thr	missense variant	-	NC_000001.11:g.207587400C>A	NCI-TCGA
rs1222143870	p.Glu1400Lys	missense variant	-	NC_000001.11:g.207587403G>A	TOPMed
rs1041763191	p.Pro1403Thr	missense variant	-	NC_000001.11:g.207587412C>A	TOPMed
COSM903177	p.Ala1405Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207587418G>A	NCI-TCGA Cosmic
rs1357145728	p.Ser1406Arg	missense variant	-	NC_000001.11:g.207587421A>C	TOPMed,gnomAD
rs3737002	p.Thr1408Met	missense variant	-	NC_000001.11:g.207587428C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs3737002	p.Thr1408Met	missense variant	-	NC_000001.11:g.207587428C>T	UniProt,dbSNP
VAR_020263	p.Thr1408Met	missense variant	-	NC_000001.11:g.207587428C>T	UniProt
rs61734514	p.Thr1408Ala	missense variant	-	NC_000001.11:g.207587427A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs61734514	p.Thr1408Ser	missense variant	-	NC_000001.11:g.207587427A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VAR_013820	p.Thr1408Ile	Missense	-	-	UniProt
rs771849735	p.Ile1409Val	missense variant	-	NC_000001.11:g.207587430A>G	ExAC,gnomAD
rs772924634	p.Ile1411Val	missense variant	-	NC_000001.11:g.207587436A>G	ExAC,gnomAD
NCI-TCGA novel	p.Asp1413Gly	missense variant	-	NC_000001.11:g.207587443A>G	NCI-TCGA
rs746835144	p.Phe1414Val	missense variant	-	NC_000001.11:g.207587445T>G	ExAC,gnomAD
NCI-TCGA novel	p.Glu1415Asp	missense variant	-	NC_000001.11:g.207587450G>T	NCI-TCGA
rs1398437815	p.Phe1416Leu	missense variant	-	NC_000001.11:g.207587453T>G	TOPMed
rs191896925	p.Gly1419Arg	missense variant	-	NC_000001.11:g.207587460G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs764321659	p.Thr1420Lys	missense variant	-	NC_000001.11:g.207587464C>A	ExAC,TOPMed,gnomAD
rs764321659	p.Thr1420Ile	missense variant	-	NC_000001.11:g.207587464C>T	ExAC,TOPMed,gnomAD
rs1473208393	p.Glu1425Asp	missense variant	-	NC_000001.11:g.207587480A>T	TOPMed
rs376393868	p.Cys1426Tyr	missense variant	-	NC_000001.11:g.207587482G>A	ESP,ExAC,gnomAD
rs371604171	p.Arg1427Cys	missense variant	-	NC_000001.11:g.207587484C>T	ESP,ExAC,TOPMed,gnomAD
rs373049995	p.Arg1427His	missense variant	-	NC_000001.11:g.207587485G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM4936268	p.Pro1428Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207587488C>T	NCI-TCGA Cosmic
rs377376915	p.Pro1428Ser	missense variant	-	NC_000001.11:g.207587487C>T	ESP,ExAC,TOPMed,gnomAD
rs377376915	p.Pro1428Ala	missense variant	-	NC_000001.11:g.207587487C>G	ESP,ExAC,TOPMed,gnomAD
rs754470032	p.Phe1431Ser	missense variant	-	NC_000001.11:g.207587497T>C	ExAC,gnomAD
rs140566582	p.Met1434Ile	missense variant	-	NC_000001.11:g.207587507G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1296600917	p.Met1434Thr	missense variant	-	NC_000001.11:g.207587506T>C	gnomAD
rs758273020	p.Phe1435Leu	missense variant	-	NC_000001.11:g.207587508T>C	ExAC,gnomAD
COSM425179	p.Ser1436Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207587512C>G	NCI-TCGA Cosmic
rs1334108927	p.Ile1437Ser	missense variant	-	NC_000001.11:g.207587515T>G	TOPMed
rs375303129	p.Ile1437Val	missense variant	-	NC_000001.11:g.207587514A>G	ESP,ExAC,TOPMed,gnomAD
rs746742487	p.Ser1438Pro	missense variant	-	NC_000001.11:g.207587517T>C	ExAC,gnomAD
rs760533167	p.Ser1438Phe	missense variant	-	NC_000001.11:g.207587518C>T	ExAC,TOPMed,gnomAD
rs780119469	p.Asn1442Tyr	missense variant	-	NC_000001.11:g.207587529A>T	ExAC,gnomAD
rs1379691879	p.Val1444Leu	missense variant	-	NC_000001.11:g.207587535G>C	TOPMed
NCI-TCGA novel	p.Val1444Ile	missense variant	-	NC_000001.11:g.207587535G>A	NCI-TCGA
rs1237422285	p.Trp1445Ter	stop gained	-	NC_000001.11:g.207587540G>A	gnomAD
rs768856371	p.Glu1449Gly	missense variant	-	NC_000001.11:g.207587551A>G	ExAC,gnomAD
rs774509906	p.Asp1450Glu	missense variant	-	NC_000001.11:g.207587555C>G	ExAC,gnomAD
rs772663179	p.Arg1454Ter	stop gained	-	NC_000001.11:g.207587565C>T	ExAC,TOPMed,gnomAD
rs1415681711	p.Ser1456Pro	missense variant	-	NC_000001.11:g.207588680T>C	gnomAD
rs764830223	p.Gly1458Glu	missense variant	-	NC_000001.11:g.207588687G>A	ExAC,gnomAD
rs994545485	p.Pro1461Ser	missense variant	-	NC_000001.11:g.207588695C>T	TOPMed
rs775164766	p.Asn1465Ser	missense variant	-	NC_000001.11:g.207588708A>G	ExAC,gnomAD
rs763721189	p.Gly1466Arg	missense variant	-	NC_000001.11:g.207588710G>A	ExAC,TOPMed,gnomAD
rs751449981	p.Met1467Ile	missense variant	-	NC_000001.11:g.207588715G>T	ExAC,TOPMed,gnomAD
rs751449981	p.Met1467Ile	missense variant	-	NC_000001.11:g.207588715G>C	ExAC,TOPMed,gnomAD
rs764234936	p.Val1468Leu	missense variant	-	NC_000001.11:g.207588716G>T	ExAC,TOPMed,gnomAD
rs764234936	p.Val1468Met	missense variant	-	NC_000001.11:g.207588716G>A	ExAC,TOPMed,gnomAD
rs374969058	p.Ile1470Val	missense variant	-	NC_000001.11:g.207588722A>G	ESP,TOPMed,gnomAD
rs750199221	p.Asn1471Ile	missense variant	-	NC_000001.11:g.207588726A>T	ExAC,gnomAD
NCI-TCGA novel	p.Asp1473Ala	missense variant	-	NC_000001.11:g.207588732A>C	NCI-TCGA
rs756008385	p.Gln1475Ter	stop gained	-	NC_000001.11:g.207588737C>T	ExAC,TOPMed,gnomAD
rs200076672	p.Thr1479Ile	missense variant	-	NC_000001.11:g.207588750C>T	ExAC,TOPMed,gnomAD
rs1201946731	p.Val1480Ile	missense variant	-	NC_000001.11:g.207588752G>A	TOPMed,gnomAD
rs1278996767	p.Asn1481Ser	missense variant	-	NC_000001.11:g.207588756A>G	gnomAD
NCI-TCGA novel	p.Ser1483Phe	missense variant	-	NC_000001.11:g.207588762C>T	NCI-TCGA
NCI-TCGA novel	p.Ser1483Tyr	missense variant	-	NC_000001.11:g.207588762C>A	NCI-TCGA
rs1451376441	p.Gly1487Val	missense variant	-	NC_000001.11:g.207588774G>T	TOPMed
rs568081345	p.Arg1489Gln	missense variant	-	NC_000001.11:g.207607256G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs568081345	p.Arg1489Leu	missense variant	-	NC_000001.11:g.207607256G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs778591697	p.Arg1489Ter	stop gained	-	NC_000001.11:g.207607255C>T	ExAC,gnomAD
COSM4027643	p.Ile1491Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207607262T>G	NCI-TCGA Cosmic
rs1477895048	p.Gly1492Val	missense variant	-	NC_000001.11:g.207607265G>T	gnomAD
rs746434908	p.Thr1497Ile	missense variant	-	NC_000001.11:g.207607280C>T	ExAC,gnomAD
NCI-TCGA novel	p.Cys1498Phe	missense variant	-	NC_000001.11:g.207607283G>T	NCI-TCGA
rs770142826	p.Leu1499Ile	missense variant	-	NC_000001.11:g.207607285C>A	ExAC,TOPMed,gnomAD
rs770142826	p.Leu1499Phe	missense variant	-	NC_000001.11:g.207607285C>T	ExAC,TOPMed,gnomAD
rs749631959	p.Val1500Phe	missense variant	-	NC_000001.11:g.207607288G>T	ExAC,TOPMed,gnomAD
rs749631959	p.Val1500Ile	missense variant	-	NC_000001.11:g.207607288G>A	ExAC,TOPMed,gnomAD
rs773911565	p.Asn1503Ser	missense variant	-	NC_000001.11:g.207607298A>G	ExAC,gnomAD
rs1231788014	p.Val1505Ile	missense variant	-	NC_000001.11:g.207607303G>A	gnomAD
rs1311272096	p.Lys1510Ter	stop gained	-	NC_000001.11:g.207607318A>T	gnomAD
NCI-TCGA novel	p.Lys1510Asn	missense variant	-	NC_000001.11:g.207607320G>T	NCI-TCGA
rs761361183	p.Ala1511Pro	missense variant	-	NC_000001.11:g.207607321G>C	ExAC,gnomAD
rs771537444	p.Pro1512Thr	missense variant	-	NC_000001.11:g.207607324C>A	ExAC,gnomAD
rs773275472	p.Ile1513Thr	missense variant	-	NC_000001.11:g.207607328T>C	ExAC,gnomAD
rs772788078	p.Ile1517Val	missense variant	-	NC_000001.11:g.207609292A>G	ExAC,TOPMed,gnomAD
rs772788078	p.Ile1517Leu	missense variant	-	NC_000001.11:g.207609292A>T	ExAC,TOPMed,gnomAD
rs1034658211	p.Ser1518Tyr	missense variant	-	NC_000001.11:g.207609296C>A	TOPMed,gnomAD
rs1458471535	p.Ser1518Pro	missense variant	-	NC_000001.11:g.207609295T>C	gnomAD
NCI-TCGA novel	p.Ser1518Phe	missense variant	-	NC_000001.11:g.207609296C>T	NCI-TCGA
rs375894322	p.Pro1522Leu	missense variant	-	NC_000001.11:g.207609308C>T	ESP,TOPMed
rs1247963049	p.Pro1523Leu	missense variant	-	NC_000001.11:g.207609311C>T	gnomAD
rs760282783	p.Ile1525Val	missense variant	-	NC_000001.11:g.207609316A>G	ExAC,gnomAD
rs1165042935	p.Ile1525Thr	missense variant	-	NC_000001.11:g.207609317T>C	TOPMed,gnomAD
rs117571325	p.Ser1526Tyr	missense variant	-	NC_000001.11:g.207609320C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1184699500	p.Ser1526Pro	missense variant	-	NC_000001.11:g.207609319T>C	TOPMed
NCI-TCGA novel	p.Ser1526Cys	missense variant	-	NC_000001.11:g.207609320C>G	NCI-TCGA
rs776473566	p.Asn1527Ser	missense variant	-	NC_000001.11:g.207609323A>G	ExAC,gnomAD
NCI-TCGA novel	p.Asp1529Val	missense variant	-	NC_000001.11:g.207609329A>T	NCI-TCGA
COSM1338438	p.Ser1532Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207609338G>A	NCI-TCGA Cosmic
rs189863730	p.Ser1532Gly	missense variant	-	NC_000001.11:g.207609337A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs765001077	p.Asn1534Ser	missense variant	-	NC_000001.11:g.207609344A>G	ExAC,gnomAD
rs1273830420	p.Asn1534Tyr	missense variant	-	NC_000001.11:g.207609343A>T	gnomAD
NCI-TCGA novel	p.Ser1537Tyr	missense variant	-	NC_000001.11:g.207609353C>A	NCI-TCGA
NCI-TCGA novel	p.Phe1538Leu	missense variant	-	NC_000001.11:g.207609357T>G	NCI-TCGA
rs17259045	p.Asn1540Ser	missense variant	-	NC_000001.11:g.207609362A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1263915207	p.Gly1541Ter	stop gained	-	NC_000001.11:g.207609364G>T	TOPMed
rs750458018	p.Gly1541Glu	missense variant	-	NC_000001.11:g.207609365G>A	ExAC,TOPMed,gnomAD
rs376660723	p.Thr1542Met	missense variant	-	NC_000001.11:g.207609368C>T	ESP,ExAC,TOPMed,gnomAD
COSM6123951	p.Val1544Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207609373G>T	NCI-TCGA Cosmic
rs1204262968	p.Gln1547Lys	missense variant	-	NC_000001.11:g.207609382C>A	gnomAD
rs755362456	p.Cys1548Ter	stop gained	-	NC_000001.11:g.207609387C>A	ExAC,gnomAD
rs779078224	p.Thr1550Ile	missense variant	-	NC_000001.11:g.207609392C>T	ExAC,TOPMed,gnomAD
rs1182031602	p.Gly1551Ala	missense variant	-	NC_000001.11:g.207609395G>C	TOPMed,gnomAD
rs370954317	p.Pro1552Gln	missense variant	-	NC_000001.11:g.207609398C>A	ESP,ExAC,TOPMed,gnomAD
rs1256403834	p.Pro1552Ser	missense variant	-	NC_000001.11:g.207609397C>T	gnomAD
rs370954317	p.Pro1552Arg	missense variant	-	NC_000001.11:g.207609398C>G	ESP,ExAC,TOPMed,gnomAD
rs899715184	p.Asp1553Glu	missense variant	-	NC_000001.11:g.207609402T>G	TOPMed,gnomAD
rs907980596	p.Gly1554Arg	missense variant	-	NC_000001.11:g.207609403G>A	TOPMed,gnomAD
rs374281717	p.Glu1555Lys	missense variant	-	NC_000001.11:g.207609406G>A	ESP,ExAC,gnomAD
rs746487023	p.Gln1556His	missense variant	-	NC_000001.11:g.207609411G>C	ExAC,gnomAD
rs1360636024	p.Leu1560Pro	missense variant	-	NC_000001.11:g.207609422T>C	gnomAD
rs41274768	p.Val1561Met	missense variant	-	NC_000001.11:g.207609424G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200742776	p.Arg1564Gln	missense variant	-	NC_000001.11:g.207609434G>A	TOPMed,gnomAD
rs370698774	p.Arg1564Trp	missense variant	-	NC_000001.11:g.207609433C>T	ESP,ExAC,TOPMed,gnomAD
rs1341215006	p.Ile1566Met	missense variant	-	NC_000001.11:g.207609441A>G	gnomAD
rs1165035355	p.Tyr1567His	missense variant	-	NC_000001.11:g.207609442T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Cys1568Ter	stop gained	-	NC_000001.11:g.207609447C>A	NCI-TCGA
rs762762588	p.Thr1569Pro	missense variant	-	NC_000001.11:g.207609448A>C	ExAC,TOPMed,gnomAD
rs767690665	p.Ser1570Arg	missense variant	-	NC_000001.11:g.207609453C>A	ExAC,gnomAD
rs1314265094	p.Ser1570Thr	missense variant	-	NC_000001.11:g.207609452G>C	gnomAD
rs1265485196	p.Ser1570Cys	missense variant	-	NC_000001.11:g.207609451A>T	TOPMed
rs575862611	p.Lys1571Arg	missense variant	-	NC_000001.11:g.207609455A>G	1000Genomes,ExAC,gnomAD
rs1393043876	p.Asp1572Asn	missense variant	-	NC_000001.11:g.207609457G>A	gnomAD
rs760727043	p.Asp1573Gly	missense variant	-	NC_000001.11:g.207609461A>G	ExAC,TOPMed,gnomAD
rs766431816	p.Gln1574Ter	stop gained	-	NC_000001.11:g.207609463C>T	ExAC,gnomAD
rs1257486895	p.Val1575Ala	missense variant	-	NC_000001.11:g.207609467T>C	TOPMed
rs1216947356	p.Trp1578Ter	stop gained	-	NC_000001.11:g.207609477G>A	TOPMed
rs374732257	p.Pro1581Arg	missense variant	-	NC_000001.11:g.207609485C>G	ESP,TOPMed
rs753954835	p.Pro1581Ser	missense variant	-	NC_000001.11:g.207609484C>T	ExAC,gnomAD
rs947565628	p.Pro1582Ser	missense variant	-	NC_000001.11:g.207609487C>T	gnomAD
rs769058005	p.Pro1583Thr	missense variant	-	NC_000001.11:g.207609490C>A	ExAC,TOPMed,gnomAD
COSM5111954	p.Pro1583LeuPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.207609487C>-	NCI-TCGA Cosmic
rs544740223	p.Pro1583His	missense variant	-	NC_000001.11:g.207609491C>A	1000Genomes,ExAC,gnomAD
rs769058005	p.Pro1583Ser	missense variant	-	NC_000001.11:g.207609490C>T	ExAC,TOPMed,gnomAD
rs544740223	p.Pro1583Leu	missense variant	-	NC_000001.11:g.207609491C>T	1000Genomes,ExAC,gnomAD
rs544740223	p.Pro1583Arg	missense variant	-	NC_000001.11:g.207609491C>G	1000Genomes,ExAC,gnomAD
rs370975278	p.Arg1584Gln	missense variant	-	NC_000001.11:g.207609494G>A	ESP,ExAC,TOPMed,gnomAD
rs746717987	p.Arg1584Trp	missense variant	-	NC_000001.11:g.207609493C>T	ExAC,TOPMed,gnomAD
rs370975278	p.Arg1584Leu	missense variant	-	NC_000001.11:g.207609494G>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser1587Phe	missense variant	-	NC_000001.11:g.207609503C>T	NCI-TCGA
rs1433020893	p.Thr1588Ala	missense variant	-	NC_000001.11:g.207609505A>G	gnomAD
rs17047660	p.Lys1590Glu	missense variant	-	NC_000001.11:g.207609511A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs533388914	p.Glu1595Asp	missense variant	-	NC_000001.11:g.207609528A>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1287596712	p.Glu1595Lys	missense variant	-	NC_000001.11:g.207609526G>A	gnomAD
rs769571841	p.Val1596Ala	missense variant	-	NC_000001.11:g.207609530T>C	ExAC,gnomAD
rs1220161506	p.Val1596Phe	missense variant	-	NC_000001.11:g.207609529G>T	gnomAD
rs1346190010	p.Asn1598Ser	missense variant	-	NC_000001.11:g.207609536A>G	gnomAD
rs1270011121	p.Ala1599Gly	missense variant	-	NC_000001.11:g.207609539C>G	gnomAD
rs371865023	p.Ile1600Thr	missense variant	-	NC_000001.11:g.207609542T>C	ESP,ExAC,TOPMed,gnomAD
rs917368537	p.Ile1600Val	missense variant	-	NC_000001.11:g.207609541A>G	TOPMed,gnomAD
rs1248372125	p.Arg1601Thr	missense variant	-	NC_000001.11:g.207609545G>C	gnomAD
rs17047661	p.Arg1601Gly	missense variant	-	NC_000001.11:g.207609544A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro1603Gln	missense variant	-	NC_000001.11:g.207609551C>A	NCI-TCGA
rs773415681	p.Gly1604Ala	missense variant	-	NC_000001.11:g.207609554G>C	ExAC,gnomAD
rs1250844597	p.Asn1605Asp	missense variant	-	NC_000001.11:g.207609556A>G	gnomAD
rs560078703	p.Arg1606Ser	missense variant	-	NC_000001.11:g.207609561G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1237809573	p.Arg1606Lys	missense variant	-	NC_000001.11:g.207609560G>A	TOPMed
rs367926730	p.Ser1607Gly	missense variant	-	NC_000001.11:g.207609562A>G	ESP,ExAC,TOPMed,gnomAD
COSM1202229	p.Phe1608Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207609567C>A	NCI-TCGA Cosmic
rs759691846	p.Thr1610Asn	missense variant	-	NC_000001.11:g.207609572C>A	ExAC,gnomAD
rs4844609	p.Ser1610Thr	missense variant	-	NC_000001.11:g.207609571A>T	UniProt,dbSNP
VAR_013823	p.Ser1610Thr	missense variant	-	NC_000001.11:g.207609571A>T	UniProt
rs4844609	p.Thr1610Ser	missense variant	-	NC_000001.11:g.207609571A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VAR_013823	p.Ser1610Thr	Missense	-	-	UniProt
rs753306326	p.Thr1612Ser	missense variant	-	NC_000001.11:g.207609578C>G	ExAC,TOPMed,gnomAD
rs753306326	p.Thr1612Ile	missense variant	-	NC_000001.11:g.207609578C>T	ExAC,TOPMed,gnomAD
rs1344284047	p.Glu1613Val	missense variant	-	NC_000001.11:g.207609581A>T	TOPMed
rs764620269	p.Ile1614Thr	missense variant	-	NC_000001.11:g.207609584T>C	ExAC,gnomAD
rs6691117	p.Ile1615Val	missense variant	-	NC_000001.11:g.207609586A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs6691117	p.Ile1615Val	missense variant	-	NC_000001.11:g.207609586A>G	UniProt,dbSNP
VAR_013824	p.Ile1615Val	missense variant	-	NC_000001.11:g.207609586A>G	UniProt
rs369185924	p.Arg1616Lys	missense variant	-	NC_000001.11:g.207609590G>A	ESP,ExAC,TOPMed,gnomAD
rs745333008	p.Phe1617Leu	missense variant	-	NC_000001.11:g.207609594T>G	ExAC,gnomAD
NCI-TCGA novel	p.Arg1618Ile	missense variant	-	NC_000001.11:g.207609596G>T	NCI-TCGA
COSM1338440	p.Pro1621Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207609604C>T	NCI-TCGA Cosmic
rs1212938694	p.Pro1621Leu	missense variant	-	NC_000001.11:g.207609605C>T	gnomAD
COSM4554437	p.Gly1622Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207609608G>A	NCI-TCGA Cosmic
rs768582642	p.Gly1622Arg	missense variant	-	NC_000001.11:g.207609607G>C	ExAC,TOPMed,gnomAD
rs768582642	p.Gly1622Arg	missense variant	-	NC_000001.11:g.207609607G>A	ExAC,TOPMed,gnomAD
rs180783183	p.Gly1622Val	missense variant	-	NC_000001.11:g.207609608G>T	1000Genomes,ExAC,gnomAD
rs1469875213	p.Met1625Leu	missense variant	-	NC_000001.11:g.207609616A>C	gnomAD
rs921199166	p.Val1626Gly	missense variant	-	NC_000001.11:g.207609620T>G	TOPMed
rs914840013	p.Gly1627Glu	missense variant	-	NC_000001.11:g.207609623G>A	TOPMed,gnomAD
rs914840013	p.Gly1627Val	missense variant	-	NC_000001.11:g.207609623G>T	TOPMed,gnomAD
rs769853928	p.Gly1627Arg	missense variant	-	NC_000001.11:g.207609622G>A	ExAC,gnomAD
COSM3864333	p.His1629Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207609629A>C	NCI-TCGA Cosmic
rs1164800111	p.His1629Asn	missense variant	-	NC_000001.11:g.207609628C>A	gnomAD
rs776145460	p.Thr1630Ala	missense variant	-	NC_000001.11:g.207609631A>G	ExAC,TOPMed,gnomAD
rs1467500596	p.Thr1630Ile	missense variant	-	NC_000001.11:g.207609632C>T	gnomAD
NCI-TCGA novel	p.Thr1630Asn	missense variant	-	NC_000001.11:g.207609632C>A	NCI-TCGA
rs1330051836	p.Val1631Met	missense variant	-	NC_000001.11:g.207609634G>A	TOPMed,gnomAD
rs1473975413	p.Cys1633Trp	missense variant	-	NC_000001.11:g.207609642C>G	gnomAD
rs371538818	p.Asn1636Ser	missense variant	-	NC_000001.11:g.207609650A>G	1000Genomes,ESP,ExAC,gnomAD
rs533857968	p.Asn1636Lys	missense variant	-	NC_000001.11:g.207609651T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs555635198	p.Gly1637Asp	missense variant	-	NC_000001.11:g.207609653G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1232192451	p.Trp1639Cys	missense variant	-	NC_000001.11:g.207609660G>C	gnomAD
rs1319989653	p.Pro1641Ser	missense variant	-	NC_000001.11:g.207609664C>T	gnomAD
rs1319989653	p.Pro1641Thr	missense variant	-	NC_000001.11:g.207609664C>A	gnomAD
rs1209582751	p.Pro1641Leu	missense variant	-	NC_000001.11:g.207609665C>T	TOPMed
NCI-TCGA novel	p.Lys1642Glu	missense variant	-	NC_000001.11:g.207609667A>G	NCI-TCGA
rs201017229	p.Leu1643Val	missense variant	-	NC_000001.11:g.207609670C>G	ExAC,TOPMed,gnomAD
rs1202650226	p.His1645Gln	missense variant	-	NC_000001.11:g.207609678C>G	gnomAD
rs1435892908	p.His1645Arg	missense variant	-	NC_000001.11:g.207609677A>G	gnomAD
rs753337004	p.Ser1647Phe	missense variant	-	NC_000001.11:g.207609683C>T	ExAC,gnomAD
NCI-TCGA novel	p.Arg1648Trp	missense variant	-	NC_000001.11:g.207609685A>T	NCI-TCGA
rs541247689	p.Val1649Ala	missense variant	-	NC_000001.11:g.207611677T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1201913115	p.Val1649Met	missense variant	-	NC_000001.11:g.207609688G>A	TOPMed
rs752622979	p.Cys1650Tyr	missense variant	-	NC_000001.11:g.207611680G>A	ExAC,TOPMed,gnomAD
rs561028518	p.Pro1652Leu	missense variant	-	NC_000001.11:g.207611686C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro1652Ser	missense variant	-	NC_000001.11:g.207611685C>T	NCI-TCGA
rs746766655	p.Pro1654Ser	missense variant	-	NC_000001.11:g.207611691C>T	ExAC,gnomAD
rs1353446182	p.Glu1655Asp	missense variant	-	NC_000001.11:g.207611696A>T	TOPMed
rs756406372	p.His1658Tyr	missense variant	-	NC_000001.11:g.207611703C>T	ExAC,gnomAD
rs369023282	p.Gly1659Ser	missense variant	-	NC_000001.11:g.207611706G>A	ESP,ExAC,TOPMed,gnomAD
rs749407317	p.His1661Arg	missense variant	-	NC_000001.11:g.207611713A>G	ExAC,gnomAD
rs1205844405	p.Thr1662Ile	missense variant	-	NC_000001.11:g.207611716C>T	gnomAD
NCI-TCGA novel	p.Thr1662Pro	missense variant	-	NC_000001.11:g.207611715A>C	NCI-TCGA
rs1261623331	p.Leu1663Pro	missense variant	-	NC_000001.11:g.207611719T>C	gnomAD
rs986157698	p.Gln1666Glu	missense variant	-	NC_000001.11:g.207611727C>G	TOPMed
rs986157698	p.Gln1666Ter	stop gained	-	NC_000001.11:g.207611727C>T	TOPMed
rs748760719	p.Asn1668Lys	missense variant	-	NC_000001.11:g.207611735C>A	ExAC,gnomAD
NCI-TCGA novel	p.Asn1668Ser	missense variant	-	NC_000001.11:g.207611734A>G	NCI-TCGA
rs772448550	p.Phe1669Ser	missense variant	-	NC_000001.11:g.207611737T>C	ExAC,gnomAD
COSM3482731	p.Ser1670Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207611740C>T	NCI-TCGA Cosmic
rs373376403	p.Gly1672Glu	missense variant	-	NC_000001.11:g.207611746G>A	ESP,TOPMed,gnomAD
rs373376403	p.Gly1672Ala	missense variant	-	NC_000001.11:g.207611746G>C	ESP,TOPMed,gnomAD
rs924076464	p.Gln1673Arg	missense variant	-	NC_000001.11:g.207611749A>G	TOPMed
rs760919810	p.Glu1674Lys	missense variant	-	NC_000001.11:g.207611751G>A	ExAC,gnomAD
rs202148801	p.Val1675Leu	missense variant	-	NC_000001.11:g.207611754G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs202148801	p.Val1675Leu	missense variant	-	NC_000001.11:g.207611754G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs759061317	p.Cys1679Ser	missense variant	-	NC_000001.11:g.207611767G>C	ExAC,gnomAD
NCI-TCGA novel	p.Pro1681His	missense variant	-	NC_000001.11:g.207611773C>A	NCI-TCGA
COSM1730268	p.Ser1682Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207611775A>T	NCI-TCGA Cosmic
rs1438489971	p.Ser1682Gly	missense variant	-	NC_000001.11:g.207611775A>G	gnomAD
rs1337815492	p.Tyr1683Cys	missense variant	-	NC_000001.11:g.207611779A>G	gnomAD
rs752143975	p.Asp1684Tyr	missense variant	-	NC_000001.11:g.207611781G>T	ExAC,TOPMed,gnomAD
rs563184105	p.Asp1684Gly	missense variant	-	NC_000001.11:g.207611782A>G	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg1686Ile	missense variant	-	NC_000001.11:g.207611788G>T	NCI-TCGA
rs751408730	p.Gly1687Glu	missense variant	-	NC_000001.11:g.207611791G>A	ExAC,gnomAD
rs948071511	p.Gly1687Arg	missense variant	-	NC_000001.11:g.207611790G>C	TOPMed
NCI-TCGA novel	p.Ala1688Val	missense variant	-	NC_000001.11:g.207611794C>T	NCI-TCGA
rs767319586	p.Ala1689Thr	missense variant	-	NC_000001.11:g.207611796G>A	gnomAD
rs757075631	p.Ala1689Val	missense variant	-	NC_000001.11:g.207611797C>T	ExAC,TOPMed,gnomAD
rs780442691	p.Ser1690Phe	missense variant	-	NC_000001.11:g.207611800C>T	ExAC,TOPMed,gnomAD
rs780442691	p.Ser1690Cys	missense variant	-	NC_000001.11:g.207611800C>G	ExAC,TOPMed,gnomAD
COSM463861	p.Cys1693Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207611808T>A	NCI-TCGA Cosmic
rs1459023366	p.Cys1693Trp	missense variant	-	NC_000001.11:g.207611810C>G	gnomAD
rs779111590	p.Cys1693Arg	missense variant	-	NC_000001.11:g.207611808T>C	ExAC,gnomAD
rs370389622	p.Thr1694Met	missense variant	-	NC_000001.11:g.207611812C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs773555762	p.Pro1695Leu	missense variant	-	NC_000001.11:g.207611815C>T	ExAC,gnomAD
rs551820345	p.Gln1696His	missense variant	-	NC_000001.11:g.207611819G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1392117583	p.Gln1696Arg	missense variant	-	NC_000001.11:g.207611818A>G	TOPMed,gnomAD
rs1373788325	p.Gln1696Ter	stop gained	-	NC_000001.11:g.207611817C>T	gnomAD
rs1420240087	p.Asp1698Gly	missense variant	-	NC_000001.11:g.207611824A>G	gnomAD
NCI-TCGA novel	p.Asp1698Ala	missense variant	-	NC_000001.11:g.207611824A>C	NCI-TCGA
rs1334013193	p.Trp1699Arg	missense variant	-	NC_000001.11:g.207611826T>A	gnomAD
rs879142327	p.Ser1700Arg	missense variant	-	NC_000001.11:g.207611831C>A	gnomAD
rs771230144	p.Ser1700Asn	missense variant	-	NC_000001.11:g.207611830G>A	ExAC,gnomAD
NCI-TCGA novel	p.Pro1701Ser	missense variant	-	NC_000001.11:g.207611832C>T	NCI-TCGA
rs776271756	p.Glu1702Lys	missense variant	-	NC_000001.11:g.207611835G>A	ExAC,gnomAD
rs759251578	p.Ala1703Val	missense variant	-	NC_000001.11:g.207611839C>T	ExAC,gnomAD
rs1229306455	p.Arg1705Thr	missense variant	-	NC_000001.11:g.207611845G>C	TOPMed
rs1248026591	p.Cys1706Arg	missense variant	-	NC_000001.11:g.207611847T>C	TOPMed,gnomAD
rs1248026591	p.Cys1706Ser	missense variant	-	NC_000001.11:g.207611847T>A	TOPMed,gnomAD
COSM3482735	p.Ser1710Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207611945C>T	NCI-TCGA Cosmic
rs1436756688	p.Ser1710Tyr	missense variant	-	NC_000001.11:g.207611945C>A	gnomAD
rs1307235096	p.Ser1710Pro	missense variant	-	NC_000001.11:g.207611944T>C	TOPMed
rs1271346895	p.Cys1711Arg	missense variant	-	NC_000001.11:g.207611947T>C	TOPMed
rs781594483	p.Asp1712Val	missense variant	-	NC_000001.11:g.207611951A>T	ExAC,TOPMed,gnomAD
rs1343228666	p.Asp1713Asn	missense variant	-	NC_000001.11:g.207611953G>A	TOPMed
rs1375084004	p.Phe1714Leu	missense variant	-	NC_000001.11:g.207611956T>C	gnomAD
NCI-TCGA novel	p.Phe1714Tyr	missense variant	-	NC_000001.11:g.207611957T>A	NCI-TCGA
rs1413106257	p.Leu1715Val	missense variant	-	NC_000001.11:g.207611959C>G	gnomAD
rs148593452	p.Gln1717His	missense variant	-	NC_000001.11:g.207611967A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1363341014	p.Gln1717Ter	stop gained	-	NC_000001.11:g.207611965C>T	gnomAD
rs369825592	p.Leu1718Ile	missense variant	-	NC_000001.11:g.207611968C>A	ExAC,gnomAD
rs369825592	p.Leu1718Val	missense variant	-	NC_000001.11:g.207611968C>G	ExAC,gnomAD
COSM425181	p.Pro1719Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207611972C>T	NCI-TCGA Cosmic
rs774346056	p.Pro1719Thr	missense variant	-	NC_000001.11:g.207611971C>A	ExAC,gnomAD
COSM4836932	p.His1720Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207611975A>G	NCI-TCGA Cosmic
rs374085005	p.Gly1721Val	missense variant	-	NC_000001.11:g.207611978G>T	1000Genomes,ExAC,gnomAD
rs374085005	p.Gly1721Asp	missense variant	-	NC_000001.11:g.207611978G>A	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Gly1721Ala	missense variant	-	NC_000001.11:g.207611978G>C	NCI-TCGA
rs142767986	p.Arg1722His	missense variant	-	NC_000001.11:g.207611981G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs767544074	p.Arg1722Cys	missense variant	-	NC_000001.11:g.207611980C>T	ExAC,TOPMed,gnomAD
COSM1317581	p.Val1723Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207611983G>A	NCI-TCGA Cosmic
rs765521072	p.Leu1725Phe	missense variant	-	NC_000001.11:g.207611989C>T	ExAC,TOPMed,gnomAD
rs1353646442	p.Leu1725Pro	missense variant	-	NC_000001.11:g.207611990T>C	TOPMed
rs374983587	p.Pro1726Arg	missense variant	-	NC_000001.11:g.207611993C>G	ESP,ExAC,TOPMed,gnomAD
rs1254595228	p.Leu1727Phe	missense variant	-	NC_000001.11:g.207611995C>T	gnomAD
NCI-TCGA novel	p.Leu1727Val	missense variant	-	NC_000001.11:g.207611995C>G	NCI-TCGA
rs1454572992	p.Asn1728His	missense variant	-	NC_000001.11:g.207611998A>C	gnomAD
COSM3803722	p.Leu1729Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207612001C>A	NCI-TCGA Cosmic
rs1174465464	p.Leu1729Val	missense variant	-	NC_000001.11:g.207612001C>G	gnomAD
rs1412818503	p.Gln1730His	missense variant	-	NC_000001.11:g.207612006G>T	gnomAD
rs201229255	p.Leu1731Val	missense variant	-	NC_000001.11:g.207612007C>G	1000Genomes,ExAC,gnomAD
rs1453603748	p.Ala1733Thr	missense variant	-	NC_000001.11:g.207612013G>A	gnomAD
rs150619703	p.Lys1734Asn	missense variant	-	NC_000001.11:g.207612018G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs150619703	p.Lys1734Asn	missense variant	-	NC_000001.11:g.207612018G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys1734Met	missense variant	-	NC_000001.11:g.207612017A>T	NCI-TCGA
rs200258218	p.Val1735Met	missense variant	-	NC_000001.11:g.207612019G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs200258218	p.Val1735Leu	missense variant	-	NC_000001.11:g.207612019G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs779766301	p.Ser1736Phe	missense variant	-	NC_000001.11:g.207612023C>T	ExAC
rs768346217	p.Phe1737Cys	missense variant	-	NC_000001.11:g.207612026T>G	ExAC,gnomAD
rs774059529	p.Val1738Ala	missense variant	-	NC_000001.11:g.207612029T>C	ExAC,TOPMed,gnomAD
rs761380715	p.Cys1739Ter	stop gained	-	NC_000001.11:g.207612033C>A	ExAC,TOPMed,gnomAD
rs376980117	p.Asp1740Asn	missense variant	-	NC_000001.11:g.207612034G>A	ESP,ExAC,TOPMed,gnomAD
rs1468733502	p.Glu1741Asp	missense variant	-	NC_000001.11:g.207612039A>C	gnomAD
rs1275018662	p.Glu1741Lys	missense variant	-	NC_000001.11:g.207612037G>A	TOPMed,gnomAD
rs1480058142	p.Gly1742Glu	missense variant	-	NC_000001.11:g.207612041G>A	gnomAD
rs760560895	p.Gly1742Arg	missense variant	-	NC_000001.11:g.207612040G>A	ExAC,gnomAD
rs55749440	p.Arg1744Ter	stop gained	-	NC_000001.11:g.207614408C>T	ExAC,TOPMed,gnomAD
rs55704352	p.Arg1744Leu	missense variant	-	NC_000001.11:g.207614409G>T	ESP,ExAC,TOPMed,gnomAD
rs55704352	p.Arg1744Gln	missense variant	-	NC_000001.11:g.207614409G>A	ESP,ExAC,TOPMed,gnomAD
rs1196832040	p.Lys1746Ile	missense variant	-	NC_000001.11:g.207614415A>T	TOPMed
rs200692346	p.Gly1747Asp	missense variant	-	NC_000001.11:g.207614418G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs756633578	p.Ser1749Pro	missense variant	-	NC_000001.11:g.207614423T>C	ExAC,gnomAD
rs1291393992	p.Ser1751Arg	missense variant	-	NC_000001.11:g.207614429A>C	gnomAD
NCI-TCGA novel	p.Ser1751Asn	missense variant	-	NC_000001.11:g.207614430G>A	NCI-TCGA
rs550889066	p.His1752Arg	missense variant	-	NC_000001.11:g.207614433A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs754189117	p.Val1754Ile	missense variant	-	NC_000001.11:g.207614438G>A	ExAC,gnomAD
rs570636406	p.Ala1756Pro	missense variant	-	NC_000001.11:g.207614444G>C	1000Genomes
NCI-TCGA novel	p.Gly1757Ala	missense variant	-	NC_000001.11:g.207614448G>C	NCI-TCGA
COSM3482739	p.Met1758Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207614452G>A	NCI-TCGA Cosmic
rs61822976	p.Met1758Thr	missense variant	-	NC_000001.11:g.207614451T>C	ExAC,TOPMed,gnomAD
COSM3864337	p.Ala1760Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207614457C>T	NCI-TCGA Cosmic
rs1336919776	p.Leu1761Phe	missense variant	-	NC_000001.11:g.207614459C>T	TOPMed
rs1228805744	p.Trp1762Ter	stop gained	-	NC_000001.11:g.207614464G>A	TOPMed
NCI-TCGA novel	p.Trp1762Ter	stop gained	-	NC_000001.11:g.207614463G>A	NCI-TCGA
rs1306489717	p.Asn1763Ser	missense variant	-	NC_000001.11:g.207614466A>G	gnomAD
rs758121969	p.Ser1764Gly	missense variant	-	NC_000001.11:g.207614468A>G	ExAC,TOPMed,gnomAD
rs1281844077	p.Ser1764Thr	missense variant	-	NC_000001.11:g.207614469G>C	TOPMed
rs1168924623	p.Ser1765Asn	missense variant	-	NC_000001.11:g.207614472G>A	gnomAD
NCI-TCGA novel	p.Ser1765Thr	missense variant	-	NC_000001.11:g.207614472G>C	NCI-TCGA
NCI-TCGA novel	p.Val1766Leu	missense variant	-	NC_000001.11:g.207614474G>C	NCI-TCGA
rs1419253581	p.Pro1767Ala	missense variant	-	NC_000001.11:g.207614477C>G	gnomAD
rs1201840624	p.Val1768Met	missense variant	-	NC_000001.11:g.207614480G>A	gnomAD
rs191751915	p.Val1768Ala	missense variant	-	NC_000001.11:g.207614481T>C	1000Genomes,ExAC,TOPMed,gnomAD
COSM4939225	p.Glu1770Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207614488A>C	NCI-TCGA Cosmic
rs746506311	p.Glu1770Ter	stop gained	-	NC_000001.11:g.207614486G>T	ExAC,gnomAD
rs1346440746	p.Glu1770Ala	missense variant	-	NC_000001.11:g.207614487A>C	TOPMed
NCI-TCGA novel	p.Glu1770Lys	missense variant	-	NC_000001.11:g.207614486G>A	NCI-TCGA
rs1375478918	p.Gln1771Ter	stop gained	-	NC_000001.11:g.207614489C>T	TOPMed,gnomAD
rs370898285	p.Pro1775Thr	missense variant	-	NC_000001.11:g.207616586C>A	ESP,TOPMed
rs370898285	p.Pro1775Ala	missense variant	-	NC_000001.11:g.207616586C>G	ESP,TOPMed
rs1420504165	p.Asn1776Asp	missense variant	-	NC_000001.11:g.207616589A>G	TOPMed,gnomAD
rs781003292	p.Pro1777Leu	missense variant	-	NC_000001.11:g.207616593C>T	ExAC,TOPMed,gnomAD
rs544812366	p.Pro1777Thr	missense variant	-	NC_000001.11:g.207616592C>A	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Pro1777His	missense variant	-	NC_000001.11:g.207616593C>A	NCI-TCGA
NCI-TCGA novel	p.Pro1777Ser	missense variant	-	NC_000001.11:g.207616592C>T	NCI-TCGA
rs745750052	p.Ile1780Thr	missense variant	-	NC_000001.11:g.207616602T>C	ExAC,gnomAD
COSM3482743	p.Leu1781Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207616605T>C	NCI-TCGA Cosmic
rs779879645	p.Leu1781Phe	missense variant	-	NC_000001.11:g.207616604C>T	ExAC,gnomAD
rs749055778	p.Gly1783Arg	missense variant	-	NC_000001.11:g.207616610G>A	ExAC,gnomAD
NCI-TCGA novel	p.Gly1783Glu	missense variant	-	NC_000001.11:g.207616611G>A	NCI-TCGA
rs879020751	p.Arg1784Lys	missense variant	-	NC_000001.11:g.207616614G>A	gnomAD
COSM4027651	p.His1785Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207616616C>T	NCI-TCGA Cosmic
COSM4940337	p.His1785Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207616617A>T	NCI-TCGA Cosmic
rs772317721	p.Thr1786Ile	missense variant	-	NC_000001.11:g.207616620C>T	ExAC
rs564952548	p.Gly1787Glu	missense variant	-	NC_000001.11:g.207616623G>A	1000Genomes,ExAC,TOPMed,gnomAD
COSM678849	p.Thr1788Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207616625A>G	NCI-TCGA Cosmic
COSM5097786	p.Thr1788Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207616626C>A	NCI-TCGA Cosmic
rs760688003	p.Thr1788Pro	missense variant	-	NC_000001.11:g.207616625A>C	ExAC,gnomAD
rs770979910	p.Pro1789Ser	missense variant	-	NC_000001.11:g.207616628C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro1789Leu	missense variant	-	NC_000001.11:g.207616629C>T	NCI-TCGA
NCI-TCGA novel	p.Pro1789His	missense variant	-	NC_000001.11:g.207616629C>A	NCI-TCGA
rs1239921010	p.Phe1790Ser	missense variant	-	NC_000001.11:g.207616632T>C	TOPMed,gnomAD
COSM1928538	p.Gly1791Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207616635G>A	NCI-TCGA Cosmic
rs760180458	p.Asp1792Tyr	missense variant	-	NC_000001.11:g.207616637G>T	NCI-TCGA
rs760180458	p.Asp1792Tyr	missense variant	-	NC_000001.11:g.207616637G>T	ExAC,gnomAD
rs765817364	p.Asp1792Gly	missense variant	-	NC_000001.11:g.207616638A>G	ExAC,gnomAD
COSM3482745	p.Pro1794Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207616644C>T	NCI-TCGA Cosmic
rs1028304802	p.Gly1796Ter	stop gained	-	NC_000001.11:g.207616649G>T	TOPMed
rs267598342	p.Gly1796Glu	missense variant	-	NC_000001.11:g.207616650G>A	-
rs267598342	p.Gly1796Glu	missense variant	-	NC_000001.11:g.207616650G>A	NCI-TCGA,NCI-TCGA Cosmic
rs1216100541	p.Lys1797Glu	missense variant	-	NC_000001.11:g.207616652A>G	gnomAD
rs1488377812	p.Glu1798Gly	missense variant	-	NC_000001.11:g.207616656A>G	gnomAD
rs753153189	p.Glu1798Ter	stop gained	-	NC_000001.11:g.207616655G>T	ExAC,gnomAD
rs1207667858	p.Glu1798Asp	missense variant	-	NC_000001.11:g.207616657A>C	gnomAD
COSM70297	p.Ile1799Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207616658A>G	NCI-TCGA Cosmic
rs763368712	p.Ile1799Lys	missense variant	-	NC_000001.11:g.207616659T>A	ExAC,gnomAD
rs1396738758	p.Ile1799Met	missense variant	-	NC_000001.11:g.207616660A>G	gnomAD
NCI-TCGA novel	p.Tyr1801His	missense variant	-	NC_000001.11:g.207616664T>C	NCI-TCGA
rs1409139939	p.Ala1802Val	missense variant	-	NC_000001.11:g.207616668C>T	gnomAD
rs56270008	p.Ala1802Pro	missense variant	-	NC_000001.11:g.207616667G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs56270008	p.Ala1802Thr	missense variant	-	NC_000001.11:g.207616667G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs113247278	p.Asp1804Asn	missense variant	-	NC_000001.11:g.207616673G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs113247278	p.Asp1804Asn	missense variant	-	NC_000001.11:g.207616673G>A	NCI-TCGA
rs749107552	p.Asp1808Asn	missense variant	-	NC_000001.11:g.207616685G>A	ExAC,gnomAD
rs545861624	p.Arg1809Gly	missense variant	-	NC_000001.11:g.207616688A>G	ExAC,TOPMed,gnomAD
rs777865155	p.Arg1809Lys	missense variant	-	NC_000001.11:g.207616689G>A	ExAC,gnomAD
rs777865155	p.Arg1809Lys	missense variant	-	NC_000001.11:g.207616689G>A	NCI-TCGA
rs747326386	p.Gly1810Ala	missense variant	-	NC_000001.11:g.207616692G>C	ExAC,TOPMed,gnomAD
COSM6123947	p.Met1811Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207616696G>A	NCI-TCGA Cosmic
rs529566156	p.Thr1812Ile	missense variant	-	NC_000001.11:g.207616698C>T	1000Genomes,ExAC,gnomAD
rs771046779	p.Thr1812Ser	missense variant	-	NC_000001.11:g.207616697A>T	ExAC,gnomAD
rs529566156	p.Thr1812Asn	missense variant	-	NC_000001.11:g.207616698C>A	1000Genomes,ExAC,gnomAD
rs1235639319	p.Phe1813Ser	missense variant	-	NC_000001.11:g.207616701T>C	gnomAD
rs745913870	p.Asn1814Thr	missense variant	-	NC_000001.11:g.207616704A>C	ExAC,TOPMed,gnomAD
rs745913870	p.Asn1814Ser	missense variant	-	NC_000001.11:g.207616704A>G	ExAC,TOPMed,gnomAD
rs1321472936	p.Ile1816Phe	missense variant	-	NC_000001.11:g.207616709A>T	TOPMed,gnomAD
rs1321472936	p.Ile1816Val	missense variant	-	NC_000001.11:g.207616709A>G	TOPMed,gnomAD
rs770457031	p.Ile1816Thr	missense variant	-	NC_000001.11:g.207616710T>C	ExAC,TOPMed,gnomAD
rs1321472936	p.Ile1816Val	missense variant	-	NC_000001.11:g.207616709A>G	NCI-TCGA
rs1339584812	p.Gly1817Ala	missense variant	-	NC_000001.11:g.207616713G>C	TOPMed,gnomAD
rs549640201	p.Gly1817Arg	missense variant	-	NC_000001.11:g.207616712G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs763422151	p.Glu1818Ter	stop gained	-	NC_000001.11:g.207616715G>T	ExAC,gnomAD
NCI-TCGA novel	p.Glu1818Gln	missense variant	-	NC_000001.11:g.207616715G>C	NCI-TCGA
rs1434418184	p.Ser1819Ile	missense variant	-	NC_000001.11:g.207616719G>T	TOPMed
rs764452837	p.Ser1820Thr	missense variant	-	NC_000001.11:g.207616721T>A	ExAC,TOPMed,gnomAD
rs774574628	p.Ile1821Thr	missense variant	-	NC_000001.11:g.207616725T>C	ExAC,TOPMed,gnomAD
rs767050487	p.Arg1822His	missense variant	-	NC_000001.11:g.207616728G>A	ExAC,TOPMed,gnomAD
rs767050487	p.Arg1822Leu	missense variant	-	NC_000001.11:g.207616728G>T	ExAC,TOPMed,gnomAD
rs191714506	p.Arg1822Cys	missense variant	-	NC_000001.11:g.207616727C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs191714506	p.Arg1822Cys	missense variant	-	NC_000001.11:g.207616727C>T	NCI-TCGA
rs749973253	p.Cys1823Arg	missense variant	-	NC_000001.11:g.207616730T>C	ExAC,TOPMed,gnomAD
rs755578730	p.Cys1823Tyr	missense variant	-	NC_000001.11:g.207616731G>A	ExAC,gnomAD
rs139596791	p.Ser1825Asn	missense variant	-	NC_000001.11:g.207616737G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs139596791	p.Ser1825Ile	missense variant	-	NC_000001.11:g.207616737G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1168233897	p.Asp1826Asn	missense variant	-	NC_000001.11:g.207616739G>A	NCI-TCGA
rs1368752419	p.Asp1826Glu	missense variant	-	NC_000001.11:g.207616741C>A	TOPMed,gnomAD
rs1168233897	p.Asp1826Asn	missense variant	-	NC_000001.11:g.207616739G>A	gnomAD
rs3811381	p.Pro1827His	missense variant	-	NC_000001.11:g.207616743C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs3811381	p.Pro1827Arg	missense variant	-	NC_000001.11:g.207616743C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs754871656	p.Pro1827Ser	missense variant	-	NC_000001.11:g.207616742C>T	ExAC,TOPMed,gnomAD
rs1379169872	p.Gln1828His	missense variant	-	NC_000001.11:g.207616747A>T	TOPMed,gnomAD
COSM268217	p.Gly1831Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207616755G>A	NCI-TCGA Cosmic
COSM3482749	p.Trp1833Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.207616761G>A	NCI-TCGA Cosmic
COSM6123945	p.Ser1835Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207616767G>T	NCI-TCGA Cosmic
rs367714079	p.Ala1837Ser	missense variant	-	NC_000001.11:g.207616772G>T	ESP,ExAC,TOPMed,gnomAD
rs749876194	p.Pro1838Ser	missense variant	-	NC_000001.11:g.207616775C>T	ExAC,gnomAD
COSM463863	p.Arg1839Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207616779G>T	NCI-TCGA Cosmic
rs769027388	p.Arg1839Cys	missense variant	-	NC_000001.11:g.207616778C>T	ExAC,gnomAD
rs571422599	p.Arg1839His	missense variant	-	NC_000001.11:g.207616779G>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg1839Gly	missense variant	-	NC_000001.11:g.207616778C>G	NCI-TCGA
rs1188219151	p.Glu1841Ala	missense variant	-	NC_000001.11:g.207616785A>C	gnomAD
NCI-TCGA novel	p.Ser1843Cys	missense variant	-	NC_000001.11:g.207616791C>G	NCI-TCGA
rs1400988835	p.Ala1847Pro	missense variant	-	NC_000001.11:g.207616802G>C	TOPMed
VAR_013826	p.His1850Asp	Missense	-	-	UniProt
rs372388379	p.Pro1851Leu	missense variant	-	NC_000001.11:g.207618083C>T	ESP,ExAC,TOPMed,gnomAD
rs779246269	p.Pro1852Arg	missense variant	-	NC_000001.11:g.207618086C>G	ExAC,gnomAD
rs41274770	p.Lys1853Arg	missense variant	-	NC_000001.11:g.207618089A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs772261193	p.Ile1854Met	missense variant	-	NC_000001.11:g.207618093C>G	NCI-TCGA,NCI-TCGA Cosmic
rs772261193	p.Ile1854Met	missense variant	-	NC_000001.11:g.207618093C>G	ExAC,gnomAD
COSM3482751	p.Gly1857Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207618100G>C	NCI-TCGA Cosmic
rs760382005	p.Ile1860Val	missense variant	-	NC_000001.11:g.207618109A>G	ExAC,gnomAD
rs989464561	p.Gly1861Arg	missense variant	-	NC_000001.11:g.207618112G>A	TOPMed
rs770551867	p.Gly1861Glu	missense variant	-	NC_000001.11:g.207618113G>A	ExAC,TOPMed,gnomAD
rs776158638	p.Gly1862Arg	missense variant	-	NC_000001.11:g.207618115G>A	NCI-TCGA,NCI-TCGA Cosmic
rs776158638	p.Gly1862Arg	missense variant	-	NC_000001.11:g.207618115G>A	ExAC,gnomAD
rs1161365397	p.Gly1862Glu	missense variant	-	NC_000001.11:g.207618116G>A	TOPMed
NCI-TCGA novel	p.Gly1862Ter	stop gained	-	NC_000001.11:g.207618115G>T	NCI-TCGA
rs558883935	p.His1863Arg	missense variant	-	NC_000001.11:g.207618119A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs558883935	p.His1863Leu	missense variant	-	NC_000001.11:g.207618119A>T	1000Genomes,ExAC,TOPMed,gnomAD
rs752517997	p.Val1864Ile	missense variant	-	NC_000001.11:g.207618121G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val1864Ala	missense variant	-	NC_000001.11:g.207618122T>C	NCI-TCGA
NCI-TCGA novel	p.Ser1865Phe	missense variant	-	NC_000001.11:g.207618125C>T	NCI-TCGA
COSM4933211	p.Leu1866Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207618127C>A	NCI-TCGA Cosmic
rs1364850488	p.Leu1866Pro	missense variant	-	NC_000001.11:g.207618128T>C	gnomAD
rs1209011751	p.Tyr1867His	missense variant	-	NC_000001.11:g.207618130T>C	TOPMed
rs1307614547	p.Pro1869Thr	missense variant	-	NC_000001.11:g.207618136C>A	TOPMed,gnomAD
rs1287070602	p.Ile1873Thr	missense variant	-	NC_000001.11:g.207618149T>C	TOPMed
rs764047591	p.Ile1873Val	missense variant	-	NC_000001.11:g.207618148A>G	ExAC,gnomAD
rs751385312	p.Ser1874Thr	missense variant	-	NC_000001.11:g.207618152G>C	ExAC,gnomAD
rs1428355347	p.Ile1876Ser	missense variant	-	NC_000001.11:g.207618158T>G	gnomAD
rs200990657	p.Ile1876Val	missense variant	-	NC_000001.11:g.207618157A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs753979628	p.Gly1880Ser	missense variant	-	NC_000001.11:g.207618169G>A	ExAC,TOPMed,gnomAD
rs754960603	p.Tyr1881Phe	missense variant	-	NC_000001.11:g.207618173A>T	ExAC,gnomAD
rs754960603	p.Tyr1881Cys	missense variant	-	NC_000001.11:g.207618173A>G	ExAC,gnomAD
rs1298564813	p.Leu1882Pro	missense variant	-	NC_000001.11:g.207618176T>C	TOPMed
rs374661608	p.Leu1882Val	missense variant	-	NC_000001.11:g.207618175C>G	ESP,ExAC,TOPMed,gnomAD
rs1369074955	p.Val1884Leu	missense variant	-	NC_000001.11:g.207618181G>T	TOPMed
COSM678847	p.Gly1885Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207618184G>A	NCI-TCGA Cosmic
rs1325557606	p.Gly1885Val	missense variant	-	NC_000001.11:g.207618185G>T	TOPMed
rs61730889	p.Gly1887Ser	missense variant	-	NC_000001.11:g.207618190G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs778163932	p.Gly1887Asp	missense variant	-	NC_000001.11:g.207618191G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe1890Leu	missense variant	-	NC_000001.11:g.207618201C>A	NCI-TCGA
rs1322460871	p.Cys1891Tyr	missense variant	-	NC_000001.11:g.207618203G>A	TOPMed,gnomAD
rs747344171	p.Cys1891Arg	missense variant	-	NC_000001.11:g.207618202T>C	ExAC,gnomAD
rs1322460871	p.Cys1891Ser	missense variant	-	NC_000001.11:g.207618203G>C	TOPMed,gnomAD
rs1391836941	p.Thr1892Ala	missense variant	-	NC_000001.11:g.207618205A>G	TOPMed
rs770602678	p.Asp1893Glu	missense variant	-	NC_000001.11:g.207618210C>A	ExAC,gnomAD
rs1443930363	p.Gln1894Ter	stop gained	-	NC_000001.11:g.207618211C>T	TOPMed,gnomAD
rs1443930363	p.Gln1894Glu	missense variant	-	NC_000001.11:g.207618211C>G	TOPMed,gnomAD
rs1298197379	p.Gln1894Arg	missense variant	-	NC_000001.11:g.207618212A>G	gnomAD
rs776218887	p.Gly1895Val	missense variant	-	NC_000001.11:g.207618215G>T	ExAC,gnomAD
NCI-TCGA novel	p.Gly1895Arg	missense variant	-	NC_000001.11:g.207618214G>A	NCI-TCGA
NCI-TCGA novel	p.Trp1897Cys	missense variant	-	NC_000001.11:g.207618222G>T	NCI-TCGA
rs759100881	p.Ser1898Asn	missense variant	-	NC_000001.11:g.207618224G>A	ExAC,TOPMed,gnomAD
rs759100881	p.Ser1898Ile	missense variant	-	NC_000001.11:g.207618224G>T	ExAC,TOPMed,gnomAD
rs769117496	p.Gln1899Ter	stop gained	-	NC_000001.11:g.207618226C>T	ExAC,TOPMed,gnomAD
rs372676460	p.Gln1899Pro	missense variant	-	NC_000001.11:g.207618227A>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln1899His	missense variant	-	NC_000001.11:g.207618228A>C	NCI-TCGA
rs751436405	p.Lys1905Glu	missense variant	-	NC_000001.11:g.207618244A>G	ExAC,gnomAD
rs1328324745	p.Val1907Glu	missense variant	-	NC_000001.11:g.207619883T>A	TOPMed
rs1159121561	p.Cys1909Tyr	missense variant	-	NC_000001.11:g.207619889G>A	gnomAD
rs887718746	p.Pro1912Ser	missense variant	-	NC_000001.11:g.207619897C>T	NCI-TCGA
rs887718746	p.Pro1912Ser	missense variant	-	NC_000001.11:g.207619897C>T	TOPMed
rs1187493168	p.Asn1916Lys	missense variant	-	NC_000001.11:g.207619911T>G	gnomAD
rs1236049985	p.Ile1918Leu	missense variant	-	NC_000001.11:g.207619915A>C	gnomAD
rs376743575	p.Ser1919Leu	missense variant	-	NC_000001.11:g.207619919C>T	ESP,ExAC,TOPMed,gnomAD
rs768741650	p.Lys1920Arg	missense variant	-	NC_000001.11:g.207619922A>G	ExAC,TOPMed,gnomAD
COSM425183	p.Glu1921Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207619924G>A	NCI-TCGA Cosmic
rs775279350	p.Glu1921Gly	missense variant	-	NC_000001.11:g.207619925A>G	ExAC,TOPMed,gnomAD
rs1402308192	p.Met1924Ile	missense variant	-	NC_000001.11:g.207619935G>A	gnomAD
rs1413788611	p.Lys1926Thr	missense variant	-	NC_000001.11:g.207619940A>C	gnomAD
rs1346710526	p.Tyr1930Cys	missense variant	-	NC_000001.11:g.207619952A>G	gnomAD
NCI-TCGA novel	p.Gly1931Arg	missense variant	-	NC_000001.11:g.207619954G>A	NCI-TCGA
NCI-TCGA novel	p.Gly1931Ala	missense variant	-	NC_000001.11:g.207619955G>C	NCI-TCGA
rs759729002	p.Asp1932His	missense variant	-	NC_000001.11:g.207619957G>C	ExAC,gnomAD
rs764408841	p.Tyr1933His	missense variant	-	NC_000001.11:g.207619960T>C	ExAC,gnomAD
rs1030089897	p.Asp1940Asn	missense variant	-	NC_000001.11:g.207619981G>A	TOPMed
rs1305661090	p.Gly1941Arg	missense variant	-	NC_000001.11:g.207619984G>C	gnomAD
rs1200358684	p.Thr1943Ser	missense variant	-	NC_000001.11:g.207619991C>G	gnomAD
rs1200358684	p.Thr1943Ile	missense variant	-	NC_000001.11:g.207619991C>T	gnomAD
rs1277185390	p.Glu1945Gly	missense variant	-	NC_000001.11:g.207619997A>G	gnomAD
rs867358083	p.Trp1949Ter	stop gained	-	NC_000001.11:g.207620010G>A	TOPMed,gnomAD
rs867358083	p.Trp1949Cys	missense variant	-	NC_000001.11:g.207620010G>C	TOPMed,gnomAD
rs867358083	p.Trp1949Ter	stop gained	-	NC_000001.11:g.207620010G>A	NCI-TCGA Cosmic
rs751999210	p.Ser1950Gly	missense variant	-	NC_000001.11:g.207620011A>G	ExAC,TOPMed,gnomAD
rs757755662	p.Cys1952Gly	missense variant	-	NC_000001.11:g.207620017T>G	ExAC,gnomAD
rs781466248	p.Ala1954Glu	missense variant	-	NC_000001.11:g.207620024C>A	ExAC,TOPMed,gnomAD
rs781466248	p.Ala1954Val	missense variant	-	NC_000001.11:g.207620024C>T	ExAC,TOPMed,gnomAD
rs781466248	p.Ala1954Val	missense variant	-	NC_000001.11:g.207620024C>T	NCI-TCGA,NCI-TCGA Cosmic
COSM3482755	p.Arg1957Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207620033G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Trp1958Ter	stop gained	-	NC_000001.11:g.207620036G>A	NCI-TCGA
rs779712942	p.Asp1959Tyr	missense variant	-	NC_000001.11:g.207620038G>T	ExAC,gnomAD
rs748825725	p.Pro1960Arg	missense variant	-	NC_000001.11:g.207620042C>G	ExAC,gnomAD
NCI-TCGA novel	p.Pro1960Thr	missense variant	-	NC_000001.11:g.207620041C>A	NCI-TCGA
COSM425185	p.Pro1961Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207620045C>G	NCI-TCGA Cosmic
rs1350588945	p.Pro1961Ser	missense variant	-	NC_000001.11:g.207620044C>T	TOPMed,gnomAD
rs1457708351	p.Pro1961His	missense variant	-	NC_000001.11:g.207620045C>A	gnomAD
rs1457708351	p.Pro1961Leu	missense variant	-	NC_000001.11:g.207620045C>T	gnomAD
NCI-TCGA novel	p.Leu1962Val	missense variant	-	NC_000001.11:g.207620047C>G	NCI-TCGA
rs1386214379	p.Ala1963Thr	missense variant	-	NC_000001.11:g.207620050G>A	gnomAD
rs1319579253	p.del1963LysValLeuTerAspArgLysLeuProThrSerTrpSerArgTer	stop gained	-	NC_000001.11:g.207620049_207620050insAAGGTACTGTAAGATAGAAAACTACCCACATCATGGAGCAGATGA	gnomAD
NCI-TCGA novel	p.Ala1963LeuLeuSerLeuTrpGluPheTrpAsnArgTrp	insertion	-	NC_000001.11:g.207620052_207620053insTTACTCTCACTATGGGAGTTTTGGAATAGGTGG	NCI-TCGA
rs1325827177	p.Thr1966Asn	missense variant	-	NC_000001.11:g.207620060C>A	TOPMed,gnomAD
rs767794791	p.Ser1967Phe	missense variant	-	NC_000001.11:g.207620063C>T	TOPMed
rs1232641532	p.Ser1967Pro	missense variant	-	NC_000001.11:g.207620062T>C	TOPMed
rs767794791	p.Ser1967Cys	missense variant	-	NC_000001.11:g.207620063C>G	TOPMed
rs748157061	p.Arg1968Cys	missense variant	-	NC_000001.11:g.207620065C>T	ExAC,gnomAD
rs748157061	p.Arg1968Ser	missense variant	-	NC_000001.11:g.207620065C>A	ExAC,gnomAD
rs748157061	p.Arg1968Cys	missense variant	-	NC_000001.11:g.207620065C>T	NCI-TCGA,NCI-TCGA Cosmic
rs2296160	p.Thr1969Ala	missense variant	-	NC_000001.11:g.207621975A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1181338817	p.His1970Arg	missense variant	-	NC_000001.11:g.207621979A>G	gnomAD
rs376203607	p.Asp1971Asn	missense variant	-	NC_000001.11:g.207621981G>A	ExAC,gnomAD
rs376203607	p.Asp1971His	missense variant	-	NC_000001.11:g.207621981G>C	ExAC,gnomAD
rs577540907	p.Asp1971Glu	missense variant	-	NC_000001.11:g.207621983T>G	1000Genomes,ExAC,gnomAD
rs368389600	p.Asp1971Val	missense variant	-	NC_000001.11:g.207621982A>T	ESP,ExAC,TOPMed,gnomAD
rs1367687790	p.Ala1972Thr	missense variant	-	NC_000001.11:g.207621984G>A	gnomAD
rs1372449830	p.Leu1973Pro	missense variant	-	NC_000001.11:g.207621988T>C	gnomAD
rs941011635	p.Leu1973Val	missense variant	-	NC_000001.11:g.207621987C>G	TOPMed,gnomAD
rs941011635	p.Leu1973Phe	missense variant	-	NC_000001.11:g.207621987C>T	TOPMed,gnomAD
rs1307946458	p.Val1975Ala	missense variant	-	NC_000001.11:g.207621994T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Val1975Ile	missense variant	-	NC_000001.11:g.207621993G>A	NCI-TCGA
rs770758740	p.Gly1976Asp	missense variant	-	NC_000001.11:g.207622993G>A	ExAC,TOPMed,gnomAD
rs1210686232	p.Leu1978Phe	missense variant	-	NC_000001.11:g.207623000A>T	TOPMed,gnomAD
rs781012531	p.Leu1978Ser	missense variant	-	NC_000001.11:g.207622999T>C	ExAC,TOPMed,gnomAD
rs1055003237	p.Ser1979Phe	missense variant	-	NC_000001.11:g.207623002C>T	TOPMed
rs936179811	p.Ser1979Pro	missense variant	-	NC_000001.11:g.207623001T>C	TOPMed
rs916014313	p.Gly1980Val	missense variant	-	NC_000001.11:g.207623005G>T	TOPMed,gnomAD
rs745630409	p.Thr1981Ala	missense variant	-	NC_000001.11:g.207623007A>G	NCI-TCGA,NCI-TCGA Cosmic
rs768897573	p.Thr1981Met	missense variant	-	NC_000001.11:g.207623008C>T	ExAC,gnomAD
rs745630409	p.Thr1981Ala	missense variant	-	NC_000001.11:g.207623007A>G	ExAC,gnomAD
rs768897573	p.Thr1981Met	missense variant	-	NC_000001.11:g.207623008C>T	NCI-TCGA,NCI-TCGA Cosmic
rs948794732	p.Phe1983Ile	missense variant	-	NC_000001.11:g.207623013T>A	TOPMed,gnomAD
rs948794732	p.Phe1983Leu	missense variant	-	NC_000001.11:g.207623013T>C	TOPMed,gnomAD
rs1311566124	p.Phe1983Leu	missense variant	-	NC_000001.11:g.207623015C>A	TOPMed
rs1188201350	p.Phe1983Ser	missense variant	-	NC_000001.11:g.207623014T>C	gnomAD
rs1045757587	p.Phe1984Leu	missense variant	-	NC_000001.11:g.207623016T>C	TOPMed,gnomAD
rs761809357	p.Ile1985Ser	missense variant	-	NC_000001.11:g.207623020T>G	ExAC,gnomAD
rs761809357	p.Ile1985Thr	missense variant	-	NC_000001.11:g.207623020T>C	ExAC,gnomAD
rs772120438	p.Leu1987Ile	missense variant	-	NC_000001.11:g.207623025C>A	ExAC,TOPMed,gnomAD
rs773158798	p.Leu1987Pro	missense variant	-	NC_000001.11:g.207623026T>C	ExAC,TOPMed,gnomAD
rs374944231	p.Ile1989Thr	missense variant	-	NC_000001.11:g.207623032T>C	ESP,ExAC,TOPMed,gnomAD
rs766965331	p.Ser1992Tyr	missense variant	-	NC_000001.11:g.207623041C>A	NCI-TCGA,NCI-TCGA Cosmic
rs766965331	p.Ser1992Tyr	missense variant	-	NC_000001.11:g.207623041C>A	ExAC,gnomAD
NCI-TCGA novel	p.Leu1996Ile	missense variant	-	NC_000001.11:g.207623052C>A	NCI-TCGA
rs754289646	p.Lys1997Glu	missense variant	-	NC_000001.11:g.207623055A>G	ExAC,gnomAD
NCI-TCGA novel	p.Arg1999Ile	missense variant	-	NC_000001.11:g.207623062G>T	NCI-TCGA
rs1219362352	p.Gly2001Ser	missense variant	-	NC_000001.11:g.207623067G>A	gnomAD
rs771591723	p.Asn2002Asp	missense variant	-	NC_000001.11:g.207630518A>G	ExAC,gnomAD
rs777224485	p.Asn2002Ser	missense variant	-	NC_000001.11:g.207630519A>G	ExAC,TOPMed,gnomAD
rs777224485	p.Asn2002Ile	missense variant	-	NC_000001.11:g.207630519A>T	ExAC,TOPMed,gnomAD
rs759984264	p.Asn2003Lys	missense variant	-	NC_000001.11:g.207630523T>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala2004Thr	missense variant	-	NC_000001.11:g.207630524G>A	NCI-TCGA
rs1214037809	p.His2005Arg	missense variant	-	NC_000001.11:g.207630528A>G	TOPMed
rs765764363	p.His2005Tyr	missense variant	-	NC_000001.11:g.207630527C>T	ExAC,TOPMed,gnomAD
rs765764363	p.His2005Asn	missense variant	-	NC_000001.11:g.207630527C>A	ExAC,TOPMed,gnomAD
rs775705835	p.Glu2006Gly	missense variant	-	NC_000001.11:g.207630531A>G	ExAC,gnomAD
rs1363146419	p.Asn2007Ser	missense variant	-	NC_000001.11:g.207630534A>G	gnomAD
rs1456413643	p.Pro2008Ser	missense variant	-	NC_000001.11:g.207630536C>T	TOPMed,gnomAD
rs372485451	p.Val2011Gly	missense variant	-	NC_000001.11:g.207630546T>G	ESP,ExAC,TOPMed,gnomAD
rs1407939215	p.His2014Arg	missense variant	-	NC_000001.11:g.207630555A>G	gnomAD
rs756707673	p.His2016Tyr	missense variant	-	NC_000001.11:g.207630560C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser2017Tyr	missense variant	-	NC_000001.11:g.207630564C>A	NCI-TCGA
rs1379657733	p.Gln2018Arg	missense variant	-	NC_000001.11:g.207630567A>G	gnomAD
COSM678845	p.Gln2018Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207630566C>G	NCI-TCGA Cosmic
rs1379657733	p.Gln2018Pro	missense variant	-	NC_000001.11:g.207630567A>C	gnomAD
COSM1928576	p.Gly2019Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207630570G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly2019Ala	missense variant	-	NC_000001.11:g.207630570G>C	NCI-TCGA
NCI-TCGA novel	p.Gly2020Asp	missense variant	-	NC_000001.11:g.207630573G>A	NCI-TCGA
rs539578401	p.Ser2022Ile	missense variant	-	NC_000001.11:g.207630579G>T	1000Genomes,ExAC,gnomAD
rs199592524	p.Val2023Leu	missense variant	-	NC_000001.11:g.207630581G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs199592524	p.Val2023Ile	missense variant	-	NC_000001.11:g.207630581G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs758680091	p.Pro2025Leu	missense variant	-	NC_000001.11:g.207630588C>T	NCI-TCGA,NCI-TCGA Cosmic
rs749007160	p.Pro2025Ser	missense variant	-	NC_000001.11:g.207630587C>T	ExAC,gnomAD
rs758680091	p.Pro2025His	missense variant	-	NC_000001.11:g.207630588C>A	ExAC,TOPMed,gnomAD
rs758680091	p.Pro2025Leu	missense variant	-	NC_000001.11:g.207630588C>T	ExAC,TOPMed,gnomAD
rs777810077	p.Arg2026Ter	stop gained	-	NC_000001.11:g.207630590C>T	ExAC,TOPMed,gnomAD
rs115510609	p.Arg2026Gln	missense variant	-	NC_000001.11:g.207630591G>A	NCI-TCGA
rs115510609	p.Arg2026Gln	missense variant	-	NC_000001.11:g.207630591G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs771072345	p.Thr2027Ile	missense variant	-	NC_000001.11:g.207630594C>T	ExAC,gnomAD
rs776850333	p.Gln2029Arg	missense variant	-	NC_000001.11:g.207630600A>G	ExAC,gnomAD
rs202101633	p.Thr2030Ala	missense variant	-	NC_000001.11:g.207630602A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs189822933	p.Glu2033Asp	missense variant	-	NC_000001.11:g.207630613A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1462538290	p.Ser2035Gly	missense variant	-	NC_000001.11:g.207630617A>G	NCI-TCGA
rs1462538290	p.Ser2035Gly	missense variant	-	NC_000001.11:g.207630617A>G	gnomAD
rs1325918800	p.Arg2036Ser	missense variant	-	NC_000001.11:g.207639397G>T	gnomAD
rs1331156785	p.Val2037Asp	missense variant	-	NC_000001.11:g.207639399T>A	TOPMed
rs1225422125	p.Val2037Phe	missense variant	-	NC_000001.11:g.207639398G>T	gnomAD
rs1273810900	p.Leu2038Phe	missense variant	-	NC_000001.11:g.207639401C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Pro2039Leu	missense variant	-	NC_000001.11:g.207639405C>T	NCI-TCGA
NCI-TCGA novel	p.Pro2039Thr	missense variant	-	NC_000001.11:g.207639404C>A	NCI-TCGA
NCI-TCGA novel	p.Pro2039Ser	missense variant	-	NC_000001.11:g.207639404C>T	NCI-TCGA
rs772575230	p.Gly167Glu	missense variant	-	NC_000001.11:g.207523623G>A	ExAC,TOPMed,gnomAD
rs1263245201	p.Leu168Val	missense variant	-	NC_000001.11:g.207523625C>G	TOPMed,gnomAD
rs1436871849	p.Leu168Pro	missense variant	-	NC_000001.11:g.207523626T>C	gnomAD
rs772945933	p.Pro169His	missense variant	-	NC_000001.11:g.207523629C>A	ExAC,TOPMed,gnomAD
rs1201736464	p.Pro169Ser	missense variant	-	NC_000001.11:g.207523628C>T	gnomAD
rs772945933	p.Pro169Leu	missense variant	-	NC_000001.11:g.207523629C>T	ExAC,TOPMed,gnomAD
rs1343627391	p.Pro170Thr	missense variant	-	NC_000001.11:g.207523631C>A	gnomAD
rs759375883	p.Thr171Ser	missense variant	-	NC_000001.11:g.207523635C>G	ExAC,gnomAD
rs775410210	p.Ile172Val	missense variant	-	NC_000001.11:g.207523637A>G	ExAC,gnomAD
rs116806486	p.Thr173Ala	missense variant	-	NC_000001.11:g.207523640A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs373261985	p.Thr173Asn	missense variant	-	NC_000001.11:g.207523641C>A	ESP,ExAC,gnomAD
rs373261985	p.Thr173Ile	missense variant	-	NC_000001.11:g.207523641C>T	ESP,ExAC,gnomAD
rs750581759	p.Asn174Lys	missense variant	-	NC_000001.11:g.207523645T>A	ExAC,gnomAD
rs1168357896	p.Asn174Asp	missense variant	-	NC_000001.11:g.207523643A>G	gnomAD
rs377171662	p.Phe177Val	missense variant	-	NC_000001.11:g.207523652T>G	ESP,ExAC,TOPMed,gnomAD
rs766358157	p.Ser179Asn	missense variant	-	NC_000001.11:g.207523659G>A	ExAC,gnomAD
rs754020848	p.Thr180Asn	missense variant	-	NC_000001.11:g.207523662C>A	ExAC,TOPMed,gnomAD
rs754020848	p.Thr180Ile	missense variant	-	NC_000001.11:g.207523662C>T	ExAC,TOPMed,gnomAD
rs1040406865	p.Asn181Ser	missense variant	-	NC_000001.11:g.207523665A>G	TOPMed
rs1251457595	p.Arg182Lys	missense variant	-	NC_000001.11:g.207523668G>A	gnomAD
rs1271137614	p.Glu183Gly	missense variant	-	NC_000001.11:g.207523671A>G	gnomAD
rs1402175043	p.Glu183Ter	stop gained	-	NC_000001.11:g.207523670G>T	gnomAD
rs755116652	p.Asn184Tyr	missense variant	-	NC_000001.11:g.207523673A>T	ExAC,gnomAD
rs779501341	p.Asn184Lys	missense variant	-	NC_000001.11:g.207523675T>A	ExAC,gnomAD
rs748682663	p.His186Pro	missense variant	-	NC_000001.11:g.207523680A>C	ExAC,gnomAD
rs758794007	p.Tyr187Asp	missense variant	-	NC_000001.11:g.207523682T>G	ExAC,gnomAD
rs778319139	p.Tyr187Cys	missense variant	-	NC_000001.11:g.207523683A>G	ExAC,gnomAD
rs1489235099	p.Val190Glu	missense variant	-	NC_000001.11:g.207523692T>A	gnomAD
rs1193584014	p.Thr192Ser	missense variant	-	NC_000001.11:g.207523698C>G	TOPMed,gnomAD
rs575341867	p.Arg194Pro	missense variant	-	NC_000001.11:g.207523704G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs372485667	p.Arg194Ser	missense variant	-	NC_000001.11:g.207523703C>A	ESP,ExAC,TOPMed,gnomAD
rs372485667	p.Arg194Cys	missense variant	-	NC_000001.11:g.207523703C>T	ESP,ExAC,TOPMed,gnomAD
rs575341867	p.Arg194His	missense variant	-	NC_000001.11:g.207523704G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs776000137	p.Asn196Tyr	missense variant	-	NC_000001.11:g.207523709A>T	ExAC,TOPMed,gnomAD
rs745308596	p.Pro197Leu	missense variant	-	NC_000001.11:g.207523713C>T	ExAC,TOPMed,gnomAD
rs533647702	p.Gly200Arg	missense variant	-	NC_000001.11:g.207523721G>A	ExAC,TOPMed,gnomAD
rs1465640883	p.Gly201Glu	missense variant	-	NC_000001.11:g.207523725G>A	gnomAD
rs1242529196	p.Lys203Met	missense variant	-	NC_000001.11:g.207523731A>T	TOPMed
rs774262384	p.Glu206Gln	missense variant	-	NC_000001.11:g.207523739G>C	ExAC,TOPMed,gnomAD
rs760805570	p.Val208Met	missense variant	-	NC_000001.11:g.207523745G>A	ExAC,gnomAD
rs765435100	p.Glu210Gly	missense variant	-	NC_000001.11:g.207523752A>G	ExAC,TOPMed,gnomAD
rs755057022	p.Glu210Lys	missense variant	-	NC_000001.11:g.207523751G>A	ExAC,gnomAD
rs905671575	p.Pro211His	missense variant	-	NC_000001.11:g.207523755C>A	TOPMed,gnomAD
rs753222609	p.Ile213Val	missense variant	-	NC_000001.11:g.207523760A>G	ExAC,TOPMed,gnomAD
rs759020028	p.Tyr214His	missense variant	-	NC_000001.11:g.207523763T>C	ExAC,TOPMed,gnomAD
rs1393369335	p.Thr216Ile	missense variant	-	NC_000001.11:g.207523770C>T	gnomAD
rs1193039629	p.Thr216Ala	missense variant	-	NC_000001.11:g.207523769A>G	gnomAD
rs747471152	p.Asn218Lys	missense variant	-	NC_000001.11:g.207523777T>G	ExAC,gnomAD
rs780838328	p.Asp220Asn	missense variant	-	NC_000001.11:g.207523781G>A	ExAC,TOPMed,gnomAD
rs564050886	p.Asp220Glu	missense variant	-	NC_000001.11:g.207523783T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1328356685	p.Val222Leu	missense variant	-	NC_000001.11:g.207523787G>T	gnomAD
rs769263469	p.Ser226Thr	missense variant	-	NC_000001.11:g.207523800G>C	ExAC,TOPMed,gnomAD
rs375736945	p.Ser226Arg	missense variant	-	NC_000001.11:g.207523801C>A	ESP,ExAC,TOPMed,gnomAD
rs1451191641	p.Gly227Asp	missense variant	-	NC_000001.11:g.207523803G>A	TOPMed
rs768650170	p.Gly227Ser	missense variant	-	NC_000001.11:g.207523802G>A	ExAC,TOPMed,gnomAD
rs771782651	p.Ala229Pro	missense variant	-	NC_000001.11:g.207523808G>C	ExAC,TOPMed,gnomAD
rs771782651	p.Ala229Thr	missense variant	-	NC_000001.11:g.207523808G>A	ExAC,TOPMed,gnomAD
rs1211344955	p.Gln231Ter	stop gained	-	NC_000001.11:g.207523814C>T	TOPMed,gnomAD
rs752881313	p.Gln231His	missense variant	-	NC_000001.11:g.207523816G>C	ExAC,TOPMed,gnomAD
rs752881313	p.Gln231His	missense variant	-	NC_000001.11:g.207523816G>T	ExAC,TOPMed,gnomAD
rs763547186	p.Cys232Phe	missense variant	-	NC_000001.11:g.207523818G>T	ExAC,gnomAD
rs1431088864	p.Ile233Leu	missense variant	-	NC_000001.11:g.207523820A>C	TOPMed
rs200373331	p.Ile234Thr	missense variant	-	NC_000001.11:g.207523824T>C	ExAC,TOPMed,gnomAD
rs1251182131	p.Pro235Leu	missense variant	-	NC_000001.11:g.207523827C>T	gnomAD
rs374551420	p.Thr239Met	missense variant	-	NC_000001.11:g.207523839C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1439694054	p.Thr239Ala	missense variant	-	NC_000001.11:g.207523838A>G	TOPMed,gnomAD
rs781450002	p.Pro240Leu	missense variant	-	NC_000001.11:g.207523842C>T	ExAC,TOPMed
rs1469085098	p.Pro240Ser	missense variant	-	NC_000001.11:g.207523841C>T	gnomAD
rs750057117	p.Pro241Leu	missense variant	-	NC_000001.11:g.207523845C>T	ExAC,gnomAD
rs976193268	p.Val243Ala	missense variant	-	NC_000001.11:g.207523851T>C	TOPMed
rs755824128	p.Ile247Thr	missense variant	-	NC_000001.11:g.207523863T>C	ExAC,gnomAD
rs1419095264	p.Ile247Val	missense variant	-	NC_000001.11:g.207523862A>G	gnomAD
rs779537863	p.Leu248Phe	missense variant	-	NC_000001.11:g.207523867G>C	ExAC,gnomAD
rs1274393352	p.Val249Ala	missense variant	-	NC_000001.11:g.207523869T>C	gnomAD
rs1391406413	p.Val249Leu	missense variant	-	NC_000001.11:g.207523868G>C	TOPMed,gnomAD
rs923349850	p.Ser250Pro	missense variant	-	NC_000001.11:g.207523871T>C	TOPMed,gnomAD
rs768068877	p.Asp251Glu	missense variant	-	NC_000001.11:g.207523876C>A	ExAC,gnomAD
rs778864339	p.Asn252Lys	missense variant	-	NC_000001.11:g.207523879C>G	ExAC,gnomAD
rs1245182081	p.Asn252Ser	missense variant	-	NC_000001.11:g.207523878A>G	TOPMed
rs748064449	p.Phe256Ile	missense variant	-	NC_000001.11:g.207523889T>A	ExAC,gnomAD
rs748064449	p.Phe256Leu	missense variant	-	NC_000001.11:g.207523889T>C	ExAC,gnomAD
rs1341746303	p.Asn259Thr	missense variant	-	NC_000001.11:g.207523899A>C	gnomAD
rs934714738	p.Glu260Gly	missense variant	-	NC_000001.11:g.207523902A>G	TOPMed
rs773187217	p.Val261Ile	missense variant	-	NC_000001.11:g.207523904G>A	ExAC
rs1196417997	p.Val262Leu	missense variant	-	NC_000001.11:g.207523907G>T	gnomAD
rs759816942	p.Arg265Ser	missense variant	-	NC_000001.11:g.207523918G>T	ExAC,TOPMed,gnomAD
rs1053518736	p.Arg265Met	missense variant	-	NC_000001.11:g.207523917G>T	TOPMed
rs1436556198	p.Pro268Leu	missense variant	-	NC_000001.11:g.207523926C>T	gnomAD
rs770207666	p.Val271Gly	missense variant	-	NC_000001.11:g.207523935T>G	ExAC,TOPMed,gnomAD
rs1274586537	p.Met272Val	missense variant	-	NC_000001.11:g.207523937A>G	TOPMed
rs528582284	p.Met272Thr	missense variant	-	NC_000001.11:g.207523938T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs528582284	p.Met272Arg	missense variant	-	NC_000001.11:g.207523938T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1374370316	p.Pro275Arg	missense variant	-	NC_000001.11:g.207523947C>G	TOPMed,gnomAD
rs764103311	p.Pro275Thr	missense variant	-	NC_000001.11:g.207523946C>A	ExAC,TOPMed,gnomAD
rs1374370316	p.Pro275Leu	missense variant	-	NC_000001.11:g.207523947C>T	TOPMed,gnomAD
rs764103311	p.Pro275Ala	missense variant	-	NC_000001.11:g.207523946C>G	ExAC,TOPMed,gnomAD
rs762275854	p.Arg276Cys	missense variant	-	NC_000001.11:g.207523949C>T	ExAC,TOPMed,gnomAD
rs767912993	p.Arg276His	missense variant	-	NC_000001.11:g.207523950G>A	ExAC,TOPMed,gnomAD
rs377051799	p.Arg277His	missense variant	-	NC_000001.11:g.207523953G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs199777103	p.Arg277Ser	missense variant	-	NC_000001.11:g.207523952C>A	ExAC,TOPMed,gnomAD
rs377051799	p.Arg277Leu	missense variant	-	NC_000001.11:g.207523953G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs199777103	p.Arg277Cys	missense variant	-	NC_000001.11:g.207523952C>T	ExAC,TOPMed,gnomAD
rs1426371821	p.Val278Met	missense variant	-	NC_000001.11:g.207523955G>A	TOPMed,gnomAD
rs1175764772	p.Lys279Thr	missense variant	-	NC_000001.11:g.207523959A>C	TOPMed
rs1313476388	p.Lys279Asn	missense variant	-	NC_000001.11:g.207523960G>C	gnomAD
rs753515222	p.Cys280Phe	missense variant	-	NC_000001.11:g.207523962G>T	ExAC,TOPMed,gnomAD
rs754466659	p.Ala282Thr	missense variant	-	NC_000001.11:g.207523967G>A	ExAC,TOPMed,gnomAD
rs748094202	p.Trp286Leu	missense variant	-	NC_000001.11:g.207523980G>T	ExAC,TOPMed,gnomAD
rs896884104	p.Trp286Ter	stop gained	-	NC_000001.11:g.207523981G>A	TOPMed
rs375365893	p.Pro288Leu	missense variant	-	NC_000001.11:g.207523986C>T	ExAC,TOPMed,gnomAD
rs1213631806	p.Glu289Ala	missense variant	-	NC_000001.11:g.207523989A>C	gnomAD
rs1485631822	p.Leu290Val	missense variant	-	NC_000001.11:g.207523991C>G	TOPMed,gnomAD
rs1485631822	p.Leu290Ile	missense variant	-	NC_000001.11:g.207523991C>A	TOPMed,gnomAD
rs746732646	p.Ser292Gly	missense variant	-	NC_000001.11:g.207523997A>G	ExAC,TOPMed,gnomAD
rs1264321260	p.Cys293Phe	missense variant	-	NC_000001.11:g.207524001G>T	gnomAD
rs770862116	p.Arg295Lys	missense variant	-	NC_000001.11:g.207524007G>A	ExAC,gnomAD
rs1304220503	p.Val296Ala	missense variant	-	NC_000001.11:g.207526753T>C	gnomAD
rs1192074518	p.Val296Leu	missense variant	-	NC_000001.11:g.207524009G>T	gnomAD
rs962914470	p.Gln298Lys	missense variant	-	NC_000001.11:g.207526758C>A	TOPMed
rs1425702067	p.Pro300Ser	missense variant	-	NC_000001.11:g.207526764C>T	TOPMed
rs1370393511	p.Asp302Asn	missense variant	-	NC_000001.11:g.207526770G>A	gnomAD
rs1389929951	p.Val303Ile	missense variant	-	NC_000001.11:g.207526773G>A	TOPMed
rs1217972447	p.Ala306Val	missense variant	-	NC_000001.11:g.207526783C>T	TOPMed,gnomAD
rs1451844190	p.Ala306Ser	missense variant	-	NC_000001.11:g.207526782G>T	TOPMed
rs748121944	p.Glu307Ter	stop gained	-	NC_000001.11:g.207526785G>T	ExAC,TOPMed,gnomAD
rs200399748	p.Arg308Cys	missense variant	-	NC_000001.11:g.207526788C>T	ESP,ExAC,TOPMed,gnomAD
rs367704854	p.Arg308His	missense variant	-	NC_000001.11:g.207526789G>A	ESP,ExAC,TOPMed,gnomAD
rs1469516392	p.Asp312Asn	missense variant	-	NC_000001.11:g.207526800G>A	gnomAD
rs1213975481	p.Lys313Thr	missense variant	-	NC_000001.11:g.207526804A>C	gnomAD
rs761207372	p.Asp314Asn	missense variant	-	NC_000001.11:g.207526806G>A	ExAC,TOPMed,gnomAD
rs761207372	p.Asp314Tyr	missense variant	-	NC_000001.11:g.207526806G>T	ExAC,TOPMed,gnomAD
rs1487254781	p.Asn315His	missense variant	-	NC_000001.11:g.207526809A>C	gnomAD
rs776915205	p.Asn315Lys	missense variant	-	NC_000001.11:g.207526811C>A	ExAC,gnomAD
rs759219881	p.Ser317Ter	stop gained	-	NC_000001.11:g.207526816C>G	ExAC,gnomAD
rs764728700	p.Pro318Arg	missense variant	-	NC_000001.11:g.207526819C>G	ExAC,gnomAD
rs372600922	p.Gly319Arg	missense variant	-	NC_000001.11:g.207526821G>A	ESP
rs757797558	p.Gln320Ter	stop gained	-	NC_000001.11:g.207526824C>T	ExAC,TOPMed,gnomAD
rs763728342	p.Tyr324His	missense variant	-	NC_000001.11:g.207526836T>C	ExAC,TOPMed,gnomAD
rs1385765016	p.Ser325Asn	missense variant	-	NC_000001.11:g.207526840G>A	TOPMed
rs751520310	p.Ser325Arg	missense variant	-	NC_000001.11:g.207526841C>G	ExAC,gnomAD
rs1434321433	p.Cys326Tyr	missense variant	-	NC_000001.11:g.207526843G>A	TOPMed,gnomAD
rs1300002054	p.Glu327Lys	missense variant	-	NC_000001.11:g.207526845G>A	gnomAD
rs1391374001	p.Glu327Asp	missense variant	-	NC_000001.11:g.207526847G>T	gnomAD
rs757322596	p.Glu327Ala	missense variant	-	NC_000001.11:g.207526846A>C	ExAC,gnomAD
rs1337494493	p.Gly329Ser	missense variant	-	NC_000001.11:g.207526851G>A	TOPMed,gnomAD
rs1337494493	p.Gly329Arg	missense variant	-	NC_000001.11:g.207526851G>C	TOPMed,gnomAD
rs745583978	p.Tyr330Cys	missense variant	-	NC_000001.11:g.207526855A>G	ExAC,gnomAD
rs778957597	p.Asp331Asn	missense variant	-	NC_000001.11:g.207526857G>A	ExAC,TOPMed,gnomAD
rs778957597	p.Asp331His	missense variant	-	NC_000001.11:g.207526857G>C	ExAC,TOPMed,gnomAD
rs772113259	p.Arg333Gly	missense variant	-	NC_000001.11:g.207526863A>G	ExAC,TOPMed,gnomAD
rs772113259	p.Arg333Ter	stop gained	-	NC_000001.11:g.207526863A>T	ExAC,TOPMed,gnomAD
rs777876698	p.Gly334Val	missense variant	-	NC_000001.11:g.207526867G>T	ExAC,gnomAD
rs1179969727	p.Ala336Val	missense variant	-	NC_000001.11:g.207526873C>T	gnomAD
rs1290223276	p.Met338Val	missense variant	-	NC_000001.11:g.207526878A>G	gnomAD
rs377225165	p.Arg339Ser	missense variant	-	NC_000001.11:g.207526881C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs774965150	p.Arg339His	missense variant	-	NC_000001.11:g.207526882G>A	ExAC,gnomAD
rs377225165	p.Arg339Cys	missense variant	-	NC_000001.11:g.207526881C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs377225165	p.Arg339Gly	missense variant	-	NC_000001.11:g.207526881C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1403838676	p.Gln343Lys	missense variant	-	NC_000001.11:g.207526893C>A	gnomAD
rs1172595071	p.Gly344Arg	missense variant	-	NC_000001.11:g.207526896G>C	gnomAD
rs1355230304	p.Ser347Gly	missense variant	-	NC_000001.11:g.207526905A>G	TOPMed,gnomAD
rs1482836122	p.Ala350Val	missense variant	-	NC_000001.11:g.207526915C>T	TOPMed
rs762733708	p.Pro351Ser	missense variant	-	NC_000001.11:g.207526917C>T	ExAC,gnomAD
rs751182802	p.Thr352Arg	missense variant	-	NC_000001.11:g.207526921C>G	ExAC,TOPMed,gnomAD
rs1202790355	p.Val355Met	missense variant	-	NC_000001.11:g.207526929G>A	TOPMed
rs1439402416	p.Asp360Tyr	missense variant	-	NC_000001.11:g.207527035G>T	TOPMed
rs1250964369	p.Met362Val	missense variant	-	NC_000001.11:g.207527041A>G	TOPMed
rs978076149	p.Gly363Arg	missense variant	-	NC_000001.11:g.207527044G>C	TOPMed,gnomAD
rs1482222749	p.Gly368Ser	missense variant	-	NC_000001.11:g.207527059G>A	TOPMed
rs1264870300	p.Arg369Cys	missense variant	-	NC_000001.11:g.207527062C>T	TOPMed
rs1377758568	p.Arg369His	missense variant	-	NC_000001.11:g.207527063G>A	TOPMed,gnomAD
rs1312626897	p.Asn375Tyr	missense variant	-	NC_000001.11:g.207527080A>T	TOPMed,gnomAD
rs1243032606	p.Leu378Phe	missense variant	-	NC_000001.11:g.207527089C>T	gnomAD
rs1432450817	p.Asp383Asn	missense variant	-	NC_000001.11:g.207527104G>A	TOPMed,gnomAD
rs1336794654	p.Glu388Ter	stop gained	-	NC_000001.11:g.207527119G>T	TOPMed
rs1394855205	p.Glu388Gly	missense variant	-	NC_000001.11:g.207527120A>G	TOPMed
rs1336794654	p.Glu388Lys	missense variant	-	NC_000001.11:g.207527119G>A	TOPMed
rs1264446061	p.Val565Leu	missense variant	-	NC_000001.11:g.207534238G>T	TOPMed
rs200755424	p.Gln572His	missense variant	-	NC_000001.11:g.207534261G>T	TOPMed,gnomAD
rs1385355747	p.Arg576Lys	missense variant	-	NC_000001.11:g.207534272G>A	TOPMed
rs949243899	p.Thr582Ala	missense variant	-	NC_000001.11:g.207534289A>G	TOPMed
rs771009691	p.Thr583Pro	missense variant	-	NC_000001.11:g.207534292A>C	ExAC,TOPMed,gnomAD
rs1423483198	p.Ala623Val	missense variant	-	NC_000001.11:g.207542212C>T	gnomAD
rs1172570230	p.Ala623Thr	missense variant	-	NC_000001.11:g.207542211G>A	gnomAD
rs1319392751	p.Asn631Ser	missense variant	-	NC_000001.11:g.207542236A>G	gnomAD
rs1402744807	p.Asn631Asp	missense variant	-	NC_000001.11:g.207542235A>G	gnomAD
rs1344196089	p.Ser639Pro	missense variant	-	NC_000001.11:g.207542259T>C	gnomAD
rs1454504815	p.Arg644Cys	missense variant	-	NC_000001.11:g.207542274C>T	TOPMed
rs1432514512	p.Arg644His	missense variant	-	NC_000001.11:g.207542275G>A	gnomAD
rs1327296376	p.Asn646Ser	missense variant	-	NC_000001.11:g.207542281A>G	gnomAD
rs1371179681	p.Pro647Leu	missense variant	-	NC_000001.11:g.207542284C>T	gnomAD
rs1272946687	p.Gly650Arg	missense variant	-	NC_000001.11:g.207542292G>A	TOPMed,gnomAD
rs1352760983	p.Gly651Arg	missense variant	-	NC_000001.11:g.207542295G>A	gnomAD
rs1224094604	p.Val654Met	missense variant	-	NC_000001.11:g.207542304G>A	gnomAD
rs1319273008	p.Val658Ala	missense variant	-	NC_000001.11:g.207542317T>C	TOPMed
rs1450939279	p.Ser662Thr	missense variant	-	NC_000001.11:g.207542328T>A	TOPMed
rs1464593590	p.Tyr664His	missense variant	-	NC_000001.11:g.207542334T>C	TOPMed,gnomAD
rs1207101946	p.Thr666Ala	missense variant	-	NC_000001.11:g.207542340A>G	gnomAD
rs1469007075	p.Asp670Asn	missense variant	-	NC_000001.11:g.207542352G>A	gnomAD
rs1198268263	p.Val672Leu	missense variant	-	NC_000001.11:g.207542358G>C	gnomAD
rs1383759889	p.Val672Glu	missense variant	-	NC_000001.11:g.207542359T>A	TOPMed
rs957992250	p.Trp675Arg	missense variant	-	NC_000001.11:g.207542367T>C	TOPMed
rs991182753	p.Ser676Asn	missense variant	-	NC_000001.11:g.207542371G>A	TOPMed,gnomAD
rs1159458530	p.Gly677Ser	missense variant	-	NC_000001.11:g.207542373G>A	gnomAD
rs1411740870	p.Pro678Leu	missense variant	-	NC_000001.11:g.207542377C>T	gnomAD
rs949270498	p.Ala679Val	missense variant	-	NC_000001.11:g.207542380C>T	TOPMed,gnomAD
rs140717816	p.Ile684Thr	missense variant	-	NC_000001.11:g.207542395T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1321051926	p.Pro685Arg	missense variant	-	NC_000001.11:g.207542398C>G	TOPMed,gnomAD
rs1337413890	p.Asn686Thr	missense variant	-	NC_000001.11:g.207542401A>C	TOPMed,gnomAD
rs1442903980	p.Cys688Tyr	missense variant	-	NC_000001.11:g.207542407G>A	TOPMed,gnomAD
rs1278700497	p.Thr689Met	missense variant	-	NC_000001.11:g.207542410C>T	TOPMed,gnomAD
rs1326890293	p.Asn695Ser	missense variant	-	NC_000001.11:g.207542428A>G	gnomAD
rs907688986	p.Ile697Met	missense variant	-	NC_000001.11:g.207542435A>G	TOPMed,gnomAD
rs1335731294	p.Val699Glu	missense variant	-	NC_000001.11:g.207542440T>A	TOPMed,gnomAD
rs1435305049	p.Asp701Asn	missense variant	-	NC_000001.11:g.207542445G>A	TOPMed
rs940457433	p.Glu710Ter	stop gained	-	NC_000001.11:g.207542472G>T	TOPMed
rs1425645053	p.Val712Met	missense variant	-	NC_000001.11:g.207542478G>A	TOPMed
rs1037377565	p.Glu713Gln	missense variant	-	NC_000001.11:g.207542481G>C	TOPMed,gnomAD
rs1303974495	p.Gln717Arg	missense variant	-	NC_000001.11:g.207542494A>G	TOPMed,gnomAD
rs1303974495	p.Gln717Leu	missense variant	-	NC_000001.11:g.207542494A>T	TOPMed,gnomAD
rs1489913779	p.Val721Gly	missense variant	-	NC_000001.11:g.207542506T>G	TOPMed
rs1271255603	p.Met722Arg	missense variant	-	NC_000001.11:g.207542509T>G	TOPMed
rs1224487839	p.Met722Ile	missense variant	-	NC_000001.11:g.207542510G>A	TOPMed
rs1440030856	p.Lys723Arg	missense variant	-	NC_000001.11:g.207542512A>G	gnomAD
rs1250705560	p.Pro725Arg	missense variant	-	NC_000001.11:g.207542518C>G	TOPMed
rs770022550	p.Pro725Thr	missense variant	-	NC_000001.11:g.207542517C>A	ExAC,TOPMed,gnomAD
rs558851782	p.Arg726His	missense variant	-	NC_000001.11:g.207542521G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1251529011	p.Arg726Cys	missense variant	-	NC_000001.11:g.207542520C>T	TOPMed,gnomAD
rs1295642971	p.Arg727His	missense variant	-	NC_000001.11:g.207542524G>A	TOPMed
rs1330092581	p.Val728Met	missense variant	-	NC_000001.11:g.207542526G>A	gnomAD
rs1227950855	p.Cys730Phe	missense variant	-	NC_000001.11:g.207542533G>T	TOPMed,gnomAD
rs931665450	p.Pro738Gln	missense variant	-	NC_000001.11:g.207542557C>A	TOPMed,gnomAD
rs931665450	p.Pro738Leu	missense variant	-	NC_000001.11:g.207542557C>T	TOPMed,gnomAD
rs1370320669	p.Glu739Gln	missense variant	-	NC_000001.11:g.207542559G>C	TOPMed
rs1457117136	p.Ser744Phe	missense variant	-	NC_000001.11:g.207542575C>T	TOPMed,gnomAD
rs1355236699	p.Arg745Lys	missense variant	-	NC_000001.11:g.207542578G>A	TOPMed
rs1160931928	p.Val746Ile	missense variant	-	NC_000001.11:g.207542580G>A	gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0002312	alpha-Thalassemia	disease	LHGDN
C0002395	Alzheimer's Disease	disease	BEFREE;CTD_human;GWASCAT;GWASDB
C0002726	Amyloidosis	disease	BEFREE
C0002880	Autoimmune hemolytic anemia	disease	BEFREE;LHGDN
C0003850	Arteriosclerosis	disease	BEFREE
C0003873	Rheumatoid Arthritis	disease	BEFREE
C0003907	Arthus Reaction	disease	BEFREE
C0004096	Asthma	disease	BEFREE
C0004153	Atherosclerosis	disease	BEFREE
C0004364	Autoimmune Diseases	group	BEFREE
C0004626	Pneumonia, Bacterial	group	LHGDN
C0005833	Blood Sedimentation	phenotype	GWASCAT;GWASDB
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0011265	Presenile dementia	disease	CTD_human
C0011854	Diabetes Mellitus, Insulin-Dependent	disease	BEFREE
C0014060	Encephalitis, St. Louis	disease	BEFREE
C0017658	Glomerulonephritis	disease	BEFREE
C0019158	Hepatitis	disease	BEFREE
C0019159	Hepatitis A	disease	BEFREE
C0019189	Hepatitis, Chronic	disease	BEFREE
C0023418	leukemia	disease	BEFREE
C0023434	Chronic Lymphocytic Leukemia	disease	BEFREE
C0023440	Acute Erythroblastic Leukemia	disease	BEFREE
C0023449	Acute lymphocytic leukemia	disease	BEFREE
C0023467	Leukemia, Myelocytic, Acute	disease	BEFREE
C0023473	Myeloid Leukemia, Chronic	disease	BEFREE
C0023890	Liver Cirrhosis	disease	BEFREE
C0023895	Liver diseases	group	BEFREE
C0024141	Lupus Erythematosus, Systemic	disease	BEFREE;LHGDN
C0024530	Malaria	disease	BEFREE;CTD_human
C0024534	Malaria, Cerebral	disease	BEFREE;LHGDN
C0024535	Malaria, Falciparum	disease	BEFREE;CTD_human
C0024790	Paroxysmal nocturnal hemoglobinuria	disease	BEFREE
C0025202	melanoma	disease	BEFREE
C0027627	Neoplasm Metastasis	phenotype	LHGDN
C0036202	Sarcoidosis	disease	BEFREE;LHGDN
C0041327	Tuberculosis, Pulmonary	disease	LHGDN
C0221026	X-linked agammaglobulinemia	disease	BEFREE
C0221292	Basophilic leukemia	disease	BEFREE
C0235782	Gallbladder Carcinoma	disease	BEFREE
C0276496	Familial Alzheimer Disease (FAD)	disease	CTD_human
C0403367	proliferative nephritis unspecified	disease	BEFREE
C0494463	Alzheimer Disease, Late Onset	disease	BEFREE;CTD_human
C0524910	Hepatitis C, Chronic	disease	BEFREE
C0546126	Acute Confusional Senile Dementia	disease	CTD_human
C0678222	Breast Carcinoma	disease	BEFREE
C0750900	Alzheimer's Disease, Focal Onset	disease	CTD_human
C0750901	Alzheimer Disease, Early Onset	disease	CTD_human
C1175175	Severe Acute Respiratory Syndrome	disease	BEFREE
C2931788	Atypical Hemolytic Uremic Syndrome	disease	BEFREE
C3897558	Soluble Interleukin 6 Receptor Measurement	phenotype	GWASDB

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0001618	virus receptor activity	IEA
GO:0001851	complement component C3b binding	IDA
GO:0001855	complement component C4b binding	IDA
GO:0001861	complement component C4b receptor activity	IDA
GO:0004877	complement component C3b receptor activity	IDA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0002430	complement receptor mediated signaling pathway	IEA
GO:0006958	complement activation, classical pathway	IEA
GO:0030449	regulation of complement activation	TAS
GO:0043312	neutrophil degranulation	TAS
GO:0045087	innate immune response	IEA
GO:0045589	regulation of regulatory T cell differentiation	TAS
GO:0045957	negative regulation of complement activation, alternative pathway	IDA
GO:0045959	negative regulation of complement activation, classical pathway	IDA
GO:0046718	viral entry into host cell	IEA
GO:1900004	negative regulation of serine-type endopeptidase activity	IDA
GO:1900005	positive regulation of serine-type endopeptidase activity	IDA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005886	plasma membrane	TAS
GO:0005887	integral component of plasma membrane	IDA
GO:0009986	cell surface	IDA
GO:0030667	secretory granule membrane	TAS
GO:0070062	extracellular exosome	HDA
GO:0101003	ficolin-1-rich granule membrane	TAS

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-166658	Complement cascade	TAS
R-HSA-168249	Innate Immune System	TAS
R-HSA-168256	Immune System	TAS
R-HSA-212436	Generic Transcription Pathway	TAS
R-HSA-6798695	Neutrophil degranulation	TAS
R-HSA-73857	RNA Polymerase II Transcription	TAS
R-HSA-74160	Gene expression (Transcription)	TAS
R-HSA-8877330	RUNX1 and FOXP3 control the development of regulatory T lymphocytes (Tregs)	TAS
R-HSA-8878171	Transcriptional regulation by RUNX1	TAS
R-HSA-977606	Regulation of Complement cascade	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
D000082	Acetaminophen	Acetaminophen results in decreased expression of CR1 mRNA	26690555
D018501	Antirheumatic Agents	Antirheumatic Agents results in decreased expression of CR1 mRNA	24449571
C030583	ceric oxide	ceric oxide results in decreased expression of CR1 protein	23726862
D004397	Fonofos	Fonofos results in decreased methylation of CR1 promoter	22847954
D006493	Heparin	Heparin results in decreased expression of CR1 protein	8993250
D006861	Hydrogen Peroxide	Hydrogen Peroxide results in increased expression of CR1 mRNA	18951874
D015570	Josamycin	Josamycin results in decreased expression of CR1 protein	8096833
D015570	Josamycin	Ribomunyl inhibits the reaction [Josamycin results in decreased expression of CR1 protein]	8096833
C030272	maleic acid	maleic acid results in increased expression of CR1 mRNA	28392987
D008345	Manganese	Manganese results in increased expression of CR1 mRNA	17175027
C025340	manganese chloride	manganese chloride results in increased expression of CR1 mRNA	17175027
D008727	Methotrexate	Methotrexate results in decreased expression of CR1 mRNA	24449571
D009532	Nickel	Nickel results in increased expression of CR1 mRNA	24768652; 25583101;
D010278	Parathion	Parathion results in decreased methylation of CR1 promoter	22847954
D010476	Perfume	Perfume results in increased expression of CR1 mRNA	24768652
D011692	Puromycin Aminonucleoside	CR1 inhibits the reaction [Puromycin Aminonucleoside results in increased expression of [C5 protein alternative form binds to C9 protein]]	9250166
C034206	Ribomunyl	Ribomunyl inhibits the reaction [Josamycin results in decreased expression of CR1 protein]	8096833
C034206	Ribomunyl	Ribomunyl results in increased expression of CR1 protein	8096833
D013605	T-2 Toxin	T-2 Toxin results in decreased expression of CR1 mRNA	31299295
C012568	terbufos	terbufos results in decreased methylation of CR1 promoter	22847954
C009495	titanium dioxide	titanium dioxide results in decreased expression of CR1 protein	23726862
C012589	trichostatin A	trichostatin A results in increased expression of CR1 mRNA	24935251
D014635	Valproic Acid	Valproic Acid results in increased expression of CR1 mRNA	24935251
D015032	Zinc	Zinc deficiency results in decreased expression of CR1 mRNA	18356318
D015034	Zinc Oxide	Zinc Oxide results in decreased expression of CR1 protein	23726862

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0095	Blood group antigen
KW-0180	Complement pathway
KW-1015	Disulfide bond
KW-0325	Glycoprotein
KW-1183	Host cell receptor for virus entry
KW-0945	Host-virus interaction
KW-0391	Immunity
KW-0399	Innate immunity
KW-0472	Membrane
KW-0621	Polymorphism
KW-0873	Pyrrolidone carboxylic acid
KW-0675	Receptor
KW-1185	Reference proteome
KW-0677	Repeat
KW-0732	Signal
KW-0768	Sushi
KW-0812	Transmembrane
KW-1133	Transmembrane helix

Interpro

InterPro ID	InterPro Term
IPR035976	Sushi/SCR/CCP_sf
IPR000436	Sushi_SCR_CCP_dom

PROSITE

PROSITE ID	PROSITE Term
PS50923	SUSHI

Pfam

Pfam ID	Pfam Term
PF00084	Sushi

Gene: CR1

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

There is no orthologous record for this gene !

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