CleftGeneDB-Search

Gene: SEC16A

Basic information

Tag	Content
Uniprot ID	O15027; A1YCA4; J3KNL6; Q4G0D7; Q5SXP0; Q5SXP1; Q8N347; Q96HP1;
Entrez ID	9919
Genbank protein ID	AAH98454.1; BAA20769.4; AAH28183.1; ABI78944.1; AAH08332.1;
Genbank nucleotide ID	XM_011519257.1; NM_014866.1; XM_005266134.2; NM_001276418.1; XM_011519246.2; XM_011519247.1; XM_011519259.1; XM_011519248.2; XM_011519252.2; XM_011519260.2; XM_011519255.2;
Ensembl protein ID	ENSP00000325827
Ensembl nucleotide ID	ENSG00000148396
Gene name	Protein transport protein Sec16A
Gene symbol	SEC16A
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Manually collected
Reference	26449438
Functional description	Acts as a molecular scaffold that plays a key role in the organization of the endoplasmic reticulum exit sites (ERES), also known as transitional endoplasmic reticulum (tER). SAR1A-GTP-dependent assembly of SEC16A on the ER membrane forms an organized scaffold defining an ERES. Required for secretory cargo traffic from the endoplasmic reticulum to the Golgi apparatus (PubMed:17192411, PubMed:17005010, PubMed:17428803, PubMed:21768384, PubMed:22355596). Mediates the recruitment of MIA3/TANGO to ERES (PubMed:28442536). Regulates both conventional (ER/Golgi-dependent) and GORASP2-mediated unconventional (ER/Golgi-independent) trafficking of CFTR to cell membrane (PubMed:28067262). Positively regulates the protein stability of E3 ubiquitin-protein ligases RNF152 and RNF183 and the ER localization of RNF183 (PubMed:29300766). Acts as a RAB10 effector in the regulation of insulin-induced SLC2A4/GLUT4 glucose transporter-enriched vesicles delivery to the cell membrane in adipocytes (By similarity).
Sequence	MQPPPQTVPS GMAGPPPAGN PRSVFWASSP YRRRANNNAA VAPTTCPLQP VTDPFAFSRQ 60 ALQSTPLGSS SKSSPPVLQG PAPAGFSQHP GLLVPHTHAR DSSQGPCEPL PGPLTQPRAH 120 ASPFSGALTP SAPPGPEMNR SAEVGPSSEP EVQTLPYLPH YIPGVDPETS HGGHPHGNMP 180 GLDRPLSRQN PHDGVVTPAA SPSLPQPGLQ MPGQWGPVQG GPQPSGQHRS PCPEGPVPSG 240 VPCATSVPHF PTPSILHQGP GHEQHSPLVA PPAALPSDGR DEVSHLQSGS HLANNSDPES 300 TFRQNPRIVN HWASPELRQN PGVKNEHRPA SALVNPLARG DSPENRTHHP LGAGAGSGCA 360 PLEADSGASG ALAMFFQGGE TENEENLSSE KAGLSGQADF DDFCSSPGLG RPPAPTHVGA 420 GSLCQALLPG PSNEAAGDVW GDTASTGVPD ASGSQYENVE NLEFVQNQEV LPSEPLNLDP 480 SSPSDQFRYG PLPGPAVPRH GAVCHTGAPD ATLHTVHPDS VSSSYSSRSH GRLSGSARPQ 540 ELVGTFIQQE VGKPEDEASG SFFKQIDSSP VGGETDETTV SQNYRGSVSQ PSTPSPPKPT 600 GIFQTSANSS FEPVKSHLVG VKPFEADRAN VVGEVRETCV RQKQCRPAAA LPDASPGNLE 660 QPPDNMETLC APQVCPLPLN STTEAVHMLP HAGAPPLDTV YPAPEKRPSA RTQGPVKCES 720 PATTLWAQSE LPDFGGNVLL APAAPALYVC AKPQPPVVQP PEEAMSGQQS RNPSSAAPVQ 780 SRGGIGASEN LENPPKMGEE EALQSQASSG YASLLSSPPT ESLQNPPVLI AQPDHSYNLA 840 QPINFSVSLS NSHEKNQSWR EALVGDRPAV SSWALGGDSG ENTSLSGIPT SSVLSLSLPS 900 SVAQSNFPQG SGASEMVSNQ PANLLVQPPS QPVPENLVPE SQKDRKAGSA LPGFANSPAG 960 STSVVLVPPA HGTLVPDGNK ANHSSHQEDT YGALDFTLSR TLENPVNVYN PSHSDSLASQ 1020 QSVASHPRQS GPGAPNLDRF YQQVTKDAQG QPGLERAQQE LVPPQQQASP PQLPKAMFSE 1080 LSNPESLPAQ GQAQNSAQSP ASLVLVDAGQ QLPPRPPQSS SVSLVSSGSG QAAVPSEQPW 1140 PQPVPALAPG PPPQDLAAYY YYRPLYDAYQ PQYSLPYPPE PGAASLYYQD VYSLYEPRYR 1200 PYDGAASAYA QNYRYPEPER PSSRASHSSE RPPPRQGYPE GYYSSKSGWS SQSDYYASYY 1260 SSQYDYGDPG HWDRYHYSAR VRDPRTYDRR YWCDAEYDAY RREHSAFGDR PEKRDNNWRY 1320 DPRFTGSFDD DPDPHRDPYG EEVDRRSVHS EHSARSLHSA HSLASRRSSL SSHSHQSQIY 1380 RSHNVAAGSY EAPLPPGSFH GDFAYGTYRS NFSSGPGFPE YGYPADTVWP AMEQVSSRPT 1440 SPEKFSVPHV CARFGPGGQL IKVIPNLPSE GQPALVEVHS MEALLQHTSE QEEMRAFPGP 1500 LAKDDTHKVD VINFAQNKAM KCLQNENLID KESASLLWNF IVLLCRQNGT VVGTDIAELL 1560 LRDHRTVWLP GKSPNEANLI DFTNEAVEQV EEEESGEAQL SFLTGGPAAA ASSLERETER 1620 FRELLLYGRK KDALESAMKN GLWGHALLLA SKMDSRTHAR VMTRFANSLP INDPLQTVYQ 1680 LMSGRMPAAS TCCGDEKWGD WRPHLAMVLS NLNNNMDVES RTMATMGDTL ASRGLLDAAH 1740 FCYLMAQAGF GVYTKKTTKL VLIGSNHSLP FLKFATNEAI QRTEAYEYAQ SLGAETCPLP 1800 SFQVFKFIYS CRLAEMGLAT QAFHYCEAIA KSILTQPHLY SPVLISQLVQ MASQLRLFDP 1860 QLKEKPEEES LAAPTWLVHL QQVERQIKEG AGVWHQDGAL PQQCPGTPSS EMEQLDRPGL 1920 SQPGALGIAN PLLAVPAPSP EHSSPSVRLL PSAPQTLPDG PLASPARVPM FPVPLPPGPL 1980 EPGPGCVTPG PALGFLEPSG PGLPPGVPPL QERRHLLQEA RSPDPGIVPQ EAPVGNSLSE 2040 LSEENFDGKF ANLTPSRTVP DSEAPPGWDR ADSGPTQPPL SLSPAPETKR PGQAAKKETK 2100 EPKKGESWFF RWLPGKKKTE AYLPDDKNKS IVWDEKKNQW VNLNEPEEEK KAPPPPPTSM 2160 PKTVQAAPPA LPGPPGAPVN MYSRRAAGTR ARYVDVLNPS GTQRSEPALA PADFVAPLAP 2220 LPIPSNLFVP TPDAEEPQLP DGTGREGPAA ARGLANPEPA PEPKVLSSAA SLPGSELPSS 2280 RPEGSQGGEL SRCSSMSSLS REVSQHFNQA PGDLPAAGGP PSGAMPFYNP AQLAQACATS 2340 GSSRLGRIGQ RKHLVLN 2357

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

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Species	Evidence	Details
1:1 ortholog	SEC16A	519689	F1N6K7	Bos taurus	Prediction	More>>
1:1 ortholog	SEC16A	102172363	A0A452FDB3	Capra hircus	Prediction	More>>
1:1 ortholog	SEC16A	9919	O15027	Homo sapiens	Publication	More>>
1:1 ortholog	Sec16a	227648	E9QAT4	Mus musculus	Prediction	More>>
1:1 ortholog	SEC16A	464863	A0A2I3RWX9	Pan troglodytes	Prediction	More>>
1:1 ortholog	Sec16a	100360302	D3ZN76	Rattus norvegicus	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
SEC16A	c.4484C>T; p.R1495Q	WES and Sanger sequencing	26449438

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1431181898	p.Gln2Arg	missense variant	-	NC_000009.12:g.136477611T>C	TOPMed,gnomAD
rs998326444	p.Pro3Ala	missense variant	-	NC_000009.12:g.136477609G>C	TOPMed
rs374538919	p.Pro4Leu	missense variant	-	NC_000009.12:g.136477605G>A	ESP,ExAC,TOPMed,gnomAD
rs1002649262	p.Pro4Thr	missense variant	-	NC_000009.12:g.136477606G>T	TOPMed
rs374538919	p.Pro4Gln	missense variant	-	NC_000009.12:g.136477605G>T	ESP,ExAC,TOPMed,gnomAD
rs1426522680	p.Pro5Ser	missense variant	-	NC_000009.12:g.136477603G>A	gnomAD
rs1429871544	p.Gln6His	missense variant	-	NC_000009.12:g.136477598C>G	TOPMed
rs547371244	p.Thr7Met	missense variant	-	NC_000009.12:g.136477596G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs766762584	p.Pro9Leu	missense variant	-	NC_000009.12:g.136477590G>A	ExAC,TOPMed,gnomAD
rs773536159	p.Ser10Phe	missense variant	-	NC_000009.12:g.136477587G>A	ExAC,gnomAD
NCI-TCGA novel	p.Gly11Cys	missense variant	-	NC_000009.12:g.136477585C>A	NCI-TCGA
rs772156928	p.Met12Val	missense variant	-	NC_000009.12:g.136477582T>C	ExAC,gnomAD
rs748329524	p.Met12Thr	missense variant	-	NC_000009.12:g.136477581A>G	ExAC,gnomAD
rs1192100850	p.Ala13Val	missense variant	-	NC_000009.12:g.136477578G>A	gnomAD
rs768786817	p.Gly14Arg	missense variant	-	NC_000009.12:g.136477576C>T	ExAC,gnomAD
rs561436017	p.Pro15Leu	missense variant	-	NC_000009.12:g.136477572G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs528913451	p.Pro15Ser	missense variant	-	NC_000009.12:g.136477573G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs184501717	p.Pro16Ser	missense variant	-	NC_000009.12:g.136477570G>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala18Thr	missense variant	-	NC_000009.12:g.136477564C>T	NCI-TCGA
rs746750207	p.Ala18Gly	missense variant	-	NC_000009.12:g.136477563G>C	ExAC,TOPMed,gnomAD
rs746750207	p.Ala18Val	missense variant	-	NC_000009.12:g.136477563G>A	ExAC,TOPMed,gnomAD
rs575810885	p.Gly19Arg	missense variant	-	NC_000009.12:g.136477561C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs376248122	p.Asn20Lys	missense variant	-	NC_000009.12:g.136477556A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1432394157	p.Pro21Leu	missense variant	-	NC_000009.12:g.136477554G>A	TOPMed
rs754445552	p.Arg22Gln	missense variant	-	NC_000009.12:g.136477551C>T	ExAC,TOPMed,gnomAD
rs766852818	p.Val24Met	missense variant	-	NC_000009.12:g.136477546C>T	ExAC,TOPMed,gnomAD
rs1172764877	p.Phe25Leu	missense variant	-	NC_000009.12:g.136477541G>T	gnomAD
rs1426220899	p.Ala27Thr	missense variant	-	NC_000009.12:g.136477537C>T	TOPMed
rs761144885	p.Ala27Val	missense variant	-	NC_000009.12:g.136477536G>A	ExAC,gnomAD
rs750752419	p.Ser29Thr	missense variant	-	NC_000009.12:g.136477530C>G	ExAC,gnomAD
rs767839631	p.Ser29Arg	missense variant	-	NC_000009.12:g.136477529G>C	ExAC,TOPMed,gnomAD
rs1234159305	p.Arg32Lys	missense variant	-	NC_000009.12:g.136477521C>T	gnomAD
rs768876520	p.Arg33Ile	missense variant	-	NC_000009.12:g.136477518C>A	ExAC,TOPMed,gnomAD
rs768876520	p.Arg33Thr	missense variant	-	NC_000009.12:g.136477518C>G	ExAC,TOPMed,gnomAD
rs776749643	p.Arg34Trp	missense variant	-	NC_000009.12:g.136477516G>A	ExAC,TOPMed,gnomAD
rs372746219	p.Arg34Gln	missense variant	-	NC_000009.12:g.136477515C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs746878163	p.Ala35Asp	missense variant	-	NC_000009.12:g.136477512G>T	ExAC,gnomAD
rs771834593	p.Asn36Thr	missense variant	-	NC_000009.12:g.136477509T>G	ExAC,gnomAD
rs777440253	p.Asn36Asp	missense variant	-	NC_000009.12:g.136477510T>C	ExAC,gnomAD
rs778489166	p.Asn37Asp	missense variant	-	NC_000009.12:g.136477507T>C	ExAC,TOPMed,gnomAD
rs1399757070	p.Asn38Thr	missense variant	-	NC_000009.12:g.136477503T>G	gnomAD
rs1399757070	p.Asn38Ser	missense variant	-	NC_000009.12:g.136477503T>C	gnomAD
rs1340154607	p.Ala40Val	missense variant	-	NC_000009.12:g.136477497G>A	TOPMed
rs1266298286	p.Ala42Ser	missense variant	-	NC_000009.12:g.136477492C>A	TOPMed
rs753318947	p.Ala42Gly	missense variant	-	NC_000009.12:g.136477491G>C	ExAC,gnomAD
rs144088895	p.Pro43Leu	missense variant	-	NC_000009.12:g.136477488G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs894041114	p.Thr45Ala	missense variant	-	NC_000009.12:g.136477483T>C	TOPMed,gnomAD
rs535860907	p.Pro47Leu	missense variant	-	NC_000009.12:g.136477476G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs775698006	p.Gln49Leu	missense variant	-	NC_000009.12:g.136477470T>A	ExAC
rs369124445	p.Pro50Leu	missense variant	-	NC_000009.12:g.136477467G>A	ESP,ExAC,TOPMed,gnomAD
rs369124445	p.Pro50Arg	missense variant	-	NC_000009.12:g.136477467G>C	ESP,ExAC,TOPMed,gnomAD
rs369124445	p.Pro50Gln	missense variant	-	NC_000009.12:g.136477467G>T	ESP,ExAC,TOPMed,gnomAD
rs771786676	p.Val51Leu	missense variant	-	NC_000009.12:g.136477465C>G	ExAC,gnomAD
rs778580994	p.Thr52Met	missense variant	-	NC_000009.12:g.136477461G>A	ExAC,TOPMed,gnomAD
rs778580994	p.Thr52Arg	missense variant	-	NC_000009.12:g.136477461G>C	ExAC,TOPMed,gnomAD
rs1224393412	p.Asp53Ala	missense variant	-	NC_000009.12:g.136477458T>G	gnomAD
COSM3655777	p.Asp53Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136477459C>T	NCI-TCGA Cosmic
rs1209144461	p.Ala56Thr	missense variant	-	NC_000009.12:g.136477450C>T	TOPMed,gnomAD
rs1209144461	p.Ala56Ser	missense variant	-	NC_000009.12:g.136477450C>A	TOPMed,gnomAD
rs199506231	p.Gln60His	missense variant	-	NC_000009.12:g.136477436C>A	gnomAD
rs778891118	p.Ala61Thr	missense variant	-	NC_000009.12:g.136477435C>T	gnomAD
rs779447176	p.Ala61Gly	missense variant	-	NC_000009.12:g.136477434G>C	ExAC,TOPMed,gnomAD
rs779447176	p.Ala61Val	missense variant	-	NC_000009.12:g.136477434G>A	ExAC,TOPMed,gnomAD
rs1464860459	p.Gln63Arg	missense variant	-	NC_000009.12:g.136477428T>C	gnomAD
rs377167903	p.Ser64Asn	missense variant	-	NC_000009.12:g.136477425C>T	ESP,ExAC,TOPMed,gnomAD
rs1242654938	p.Ser64Gly	missense variant	-	NC_000009.12:g.136477426T>C	gnomAD
rs1014237623	p.Thr65Ile	missense variant	-	NC_000009.12:g.136477422G>A	gnomAD
rs757733601	p.Pro66Gln	missense variant	-	NC_000009.12:g.136477419G>T	ExAC,gnomAD
rs369467716	p.Leu67Val	missense variant	-	NC_000009.12:g.136477417G>C	ESP,ExAC,TOPMed,gnomAD
rs902818908	p.Ser70Leu	missense variant	-	NC_000009.12:g.136477407G>A	TOPMed,gnomAD
rs765265061	p.Ser74Gly	missense variant	-	NC_000009.12:g.136477396T>C	ExAC,gnomAD
rs1353045570	p.Gln79Ter	stop gained	-	NC_000009.12:g.136477381G>A	gnomAD
rs759614227	p.Gln79Pro	missense variant	-	NC_000009.12:g.136477380T>G	ExAC,gnomAD
NCI-TCGA novel	p.Gly80Asp	missense variant	-	NC_000009.12:g.136477377C>T	NCI-TCGA
rs773072929	p.Ala82Val	missense variant	-	NC_000009.12:g.136477371G>A	ExAC,gnomAD
rs201448916	p.Ala84Thr	missense variant	-	NC_000009.12:g.136477366C>T	ESP,ExAC,TOPMed,gnomAD
rs774122882	p.Ala84Glu	missense variant	-	NC_000009.12:g.136477365G>T	ExAC,gnomAD
rs768384261	p.Gly85Arg	missense variant	-	NC_000009.12:g.136477363C>T	ExAC,gnomAD
rs1164892381	p.Gly85Glu	missense variant	-	NC_000009.12:g.136477362C>T	gnomAD
COSM4834399	p.Gln88Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.136477354G>A	NCI-TCGA Cosmic
rs374108015	p.Gln88His	missense variant	-	NC_000009.12:g.136477352C>A	ESP,ExAC,TOPMed,gnomAD
rs769233951	p.His89Tyr	missense variant	-	NC_000009.12:g.136477351G>A	ExAC,TOPMed,gnomAD
rs1430051005	p.His89Leu	missense variant	-	NC_000009.12:g.136477350T>A	gnomAD
rs769233951	p.His89Asn	missense variant	-	NC_000009.12:g.136477351G>T	ExAC,TOPMed,gnomAD
rs1262226671	p.Pro90Ala	missense variant	-	NC_000009.12:g.136477348G>C	TOPMed,gnomAD
rs1262226671	p.Pro90Ser	missense variant	-	NC_000009.12:g.136477348G>A	TOPMed,gnomAD
rs745347813	p.Gly91Ser	missense variant	-	NC_000009.12:g.136477345C>T	ExAC,gnomAD
rs1270963861	p.Gly91Ala	missense variant	-	NC_000009.12:g.136477344C>G	gnomAD
rs371655852	p.Leu92Phe	missense variant	-	NC_000009.12:g.136477340C>G	ESP,ExAC,TOPMed,gnomAD
rs1265083041	p.Leu93Val	missense variant	-	NC_000009.12:g.136477339G>C	gnomAD
rs982633320	p.Val94Ile	missense variant	-	NC_000009.12:g.136477336C>T	TOPMed
rs1309613550	p.Thr97Ile	missense variant	-	NC_000009.12:g.136477326G>A	gnomAD
rs1309613550	p.Thr97Lys	missense variant	-	NC_000009.12:g.136477326G>T	gnomAD
rs778284428	p.His98Arg	missense variant	-	NC_000009.12:g.136477323T>C	ExAC,gnomAD
rs552755205	p.Arg100Gly	missense variant	-	NC_000009.12:g.136477318T>C	1000Genomes,TOPMed
rs1399814318	p.Arg100Lys	missense variant	-	NC_000009.12:g.136477317C>T	gnomAD
rs1040739370	p.Asp101Asn	missense variant	-	NC_000009.12:g.136477315C>T	gnomAD
rs1040739370	p.Asp101Tyr	missense variant	-	NC_000009.12:g.136477315C>A	gnomAD
rs1305503325	p.Ser103Cys	missense variant	-	NC_000009.12:g.136477308G>C	gnomAD
NCI-TCGA novel	p.Gln104Ter	stop gained	-	NC_000009.12:g.136477306G>A	NCI-TCGA
rs565949028	p.Pro106His	missense variant	-	NC_000009.12:g.136477299G>T	gnomAD
rs565949028	p.Pro106Leu	missense variant	-	NC_000009.12:g.136477299G>A	gnomAD
COSM3655775	p.Pro106Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136477300G>A	NCI-TCGA Cosmic
rs758794202	p.Cys107Arg	missense variant	-	NC_000009.12:g.136477297A>G	ExAC,TOPMed,gnomAD
rs867171107	p.Pro109Leu	missense variant	-	NC_000009.12:g.136477290G>A	TOPMed
rs752886068	p.Gly112Arg	missense variant	-	NC_000009.12:g.136477282C>T	ExAC,gnomAD
rs1373319331	p.Gln116Arg	missense variant	-	NC_000009.12:g.136477269T>C	gnomAD
rs976840314	p.Pro117Leu	missense variant	-	NC_000009.12:g.136477266G>A	TOPMed,gnomAD
rs976840314	p.Pro117Arg	missense variant	-	NC_000009.12:g.136477266G>C	TOPMed,gnomAD
rs765477873	p.Arg118Lys	missense variant	-	NC_000009.12:g.136477263C>T	ExAC,gnomAD
rs755054480	p.Ala119Ser	missense variant	-	NC_000009.12:g.136477261C>A	ExAC,gnomAD
rs753951155	p.His120Arg	missense variant	-	NC_000009.12:g.136477257T>C	ExAC,gnomAD
rs767504823	p.Ala121Thr	missense variant	-	NC_000009.12:g.136477255C>T	ExAC,gnomAD
rs1266829730	p.Ala121Val	missense variant	-	NC_000009.12:g.136477254G>A	gnomAD
rs374460252	p.Ser122Arg	missense variant	-	NC_000009.12:g.136477252T>G	ESP,ExAC,TOPMed
rs371074782	p.Pro123Leu	missense variant	-	NC_000009.12:g.136477248G>A	ESP,ExAC,TOPMed,gnomAD
rs774210550	p.Pro123Ser	missense variant	-	NC_000009.12:g.136477249G>A	ExAC,gnomAD
rs769480501	p.Ala127Val	missense variant	-	NC_000009.12:g.136477236G>A	ExAC,TOPMed,gnomAD
rs775041010	p.Ala127Pro	missense variant	-	NC_000009.12:g.136477237C>G	ExAC,gnomAD
rs373239822	p.Leu128Val	missense variant	-	NC_000009.12:g.136477234A>C	1000Genomes,ExAC,TOPMed,gnomAD
COSM3375175	p.Leu128Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136477233A>C	NCI-TCGA Cosmic
rs747548314	p.Thr129Ile	missense variant	-	NC_000009.12:g.136477230G>A	ExAC,gnomAD
rs368742953	p.Pro130Ser	missense variant	-	NC_000009.12:g.136477228G>A	ESP,ExAC,gnomAD
rs758884334	p.Pro130Leu	missense variant	-	NC_000009.12:g.136477227G>A	ExAC,gnomAD
rs958420028	p.Pro133Arg	missense variant	-	NC_000009.12:g.136477218G>C	TOPMed
rs1011095072	p.Pro133Ala	missense variant	-	NC_000009.12:g.136477219G>C	TOPMed,gnomAD
rs1463866187	p.Pro134Arg	missense variant	-	NC_000009.12:g.136477215G>C	TOPMed,gnomAD
rs779072205	p.Gly135Glu	missense variant	-	NC_000009.12:g.136477212C>T	ExAC,gnomAD
NCI-TCGA novel	p.Pro136LeuPheSerTerUnk	frameshift	-	NC_000009.12:g.136477209G>-	NCI-TCGA
NCI-TCGA novel	p.Pro136Ser	missense variant	-	NC_000009.12:g.136477210G>A	NCI-TCGA
rs999737313	p.Glu137Gln	missense variant	-	NC_000009.12:g.136477207C>G	TOPMed
COSM3905735	p.Met138Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136477202C>A	NCI-TCGA Cosmic
rs755219079	p.Asn139Ser	missense variant	-	NC_000009.12:g.136477200T>C	ExAC,TOPMed,gnomAD
rs1477631047	p.Asn139Asp	missense variant	-	NC_000009.12:g.136477201T>C	gnomAD
rs375110996	p.Arg140Ser	missense variant	-	NC_000009.12:g.136477196C>G	ESP,ExAC,TOPMed,gnomAD
rs375110996	p.Arg140Ser	missense variant	-	NC_000009.12:g.136477196C>A	ESP,ExAC,TOPMed,gnomAD
rs780115901	p.Ser141Gly	missense variant	-	NC_000009.12:g.136477195T>C	ExAC,gnomAD
rs1239008204	p.Ser141Asn	missense variant	-	NC_000009.12:g.136477194C>T	gnomAD
rs756149791	p.Glu143Lys	missense variant	-	NC_000009.12:g.136477189C>T	ExAC,TOPMed,gnomAD
rs762718838	p.Gly145Arg	missense variant	-	NC_000009.12:g.136477183C>G	ExAC,gnomAD
rs762718838	p.Gly145Ser	missense variant	-	NC_000009.12:g.136477183C>T	ExAC,gnomAD
rs752520572	p.Gly145Val	missense variant	-	NC_000009.12:g.136477182C>A	ExAC,TOPMed,gnomAD
rs1273589715	p.Pro146Ser	missense variant	-	NC_000009.12:g.136477180G>A	gnomAD
rs781636539	p.Glu149Asp	missense variant	-	NC_000009.12:g.136477169C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu149Lys	missense variant	-	NC_000009.12:g.136477171C>T	NCI-TCGA
rs567160130	p.Pro150Ser	missense variant	-	NC_000009.12:g.136477168G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1407877942	p.Val152Ile	missense variant	-	NC_000009.12:g.136477162C>T	gnomAD
rs760241782	p.Gln153His	missense variant	-	NC_000009.12:g.136477157C>G	ExAC,gnomAD
rs760241782	p.Gln153His	missense variant	-	NC_000009.12:g.136477157C>A	ExAC,gnomAD
rs773898627	p.Thr154Pro	missense variant	-	NC_000009.12:g.136477156T>G	ExAC,gnomAD
rs748522586	p.Leu155Pro	missense variant	-	NC_000009.12:g.136477152A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro156Ser	missense variant	-	NC_000009.12:g.136477150G>A	NCI-TCGA
rs1381050697	p.Leu158Phe	missense variant	-	NC_000009.12:g.136477144G>A	gnomAD
NCI-TCGA novel	p.Pro159Thr	missense variant	-	NC_000009.12:g.136477141G>T	NCI-TCGA
rs768839223	p.His160Arg	missense variant	-	NC_000009.12:g.136477137T>C	ExAC,TOPMed,gnomAD
rs1438017801	p.Tyr161Asp	missense variant	-	NC_000009.12:g.136477135A>C	gnomAD
rs749559227	p.Tyr161Cys	missense variant	-	NC_000009.12:g.136477134T>C	ExAC,TOPMed,gnomAD
rs1188606960	p.Ile162Val	missense variant	-	NC_000009.12:g.136477132T>C	gnomAD
rs1206745109	p.Pro163Gln	missense variant	-	NC_000009.12:g.136477128G>T	TOPMed
rs777741995	p.Val165Leu	missense variant	-	NC_000009.12:g.136477123C>A	ExAC,TOPMed,gnomAD
rs777741995	p.Val165Met	missense variant	-	NC_000009.12:g.136477123C>T	ExAC,TOPMed,gnomAD
rs777741995	p.Val165Leu	missense variant	-	NC_000009.12:g.136477123C>G	ExAC,TOPMed,gnomAD
rs7852966	p.Thr169Met	missense variant	-	NC_000009.12:g.136477110G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs765110036	p.Gly173Cys	missense variant	-	NC_000009.12:g.136477099C>A	ExAC,TOPMed,gnomAD
rs759201849	p.His174Pro	missense variant	-	NC_000009.12:g.136477095T>G	ExAC,gnomAD
rs753596031	p.Pro175Arg	missense variant	-	NC_000009.12:g.136477092G>C	ExAC,TOPMed,gnomAD
rs909672724	p.Pro175Ser	missense variant	-	NC_000009.12:g.136477093G>A	TOPMed,gnomAD
rs753596031	p.Pro175Leu	missense variant	-	NC_000009.12:g.136477092G>A	ExAC,TOPMed,gnomAD
rs760327904	p.His176Gln	missense variant	-	NC_000009.12:g.136477088A>T	ExAC,TOPMed,gnomAD
rs1420177426	p.Gly177Glu	missense variant	-	NC_000009.12:g.136477086C>T	gnomAD
rs1320178729	p.Gly177Arg	missense variant	-	NC_000009.12:g.136477087C>T	gnomAD
rs772836738	p.Met179Val	missense variant	-	NC_000009.12:g.136477081T>C	ExAC,gnomAD
rs771429201	p.Met179Ile	missense variant	-	NC_000009.12:g.136477079C>A	ExAC,TOPMed,gnomAD
rs549448822	p.Gly181Glu	missense variant	-	NC_000009.12:g.136477074C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1472654661	p.Asp183Tyr	missense variant	-	NC_000009.12:g.136477069C>A	gnomAD
rs769090348	p.Arg184Gln	missense variant	-	NC_000009.12:g.136477065C>T	ExAC,gnomAD
rs1395973457	p.Pro185Ser	missense variant	-	NC_000009.12:g.136477063G>A	gnomAD
rs976703139	p.Leu186Pro	missense variant	-	NC_000009.12:g.136477059A>G	TOPMed,gnomAD
rs976703139	p.Leu186Arg	missense variant	-	NC_000009.12:g.136477059A>C	TOPMed,gnomAD
rs1213750860	p.Ser187Asn	missense variant	-	NC_000009.12:g.136477056C>T	gnomAD
NCI-TCGA novel	p.Ser187Ile	missense variant	-	NC_000009.12:g.136477056C>A	NCI-TCGA
rs1361049452	p.Arg188Ser	missense variant	-	NC_000009.12:g.136477052C>A	gnomAD
rs1290143111	p.Asn190Lys	missense variant	-	NC_000009.12:g.136477046G>C	gnomAD
rs1227427813	p.His192Arg	missense variant	-	NC_000009.12:g.136477041T>C	gnomAD
COSM5096437	p.Asp193Ter	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.136477039_136477040insA	NCI-TCGA Cosmic
rs746028039	p.Gly194Asp	missense variant	-	NC_000009.12:g.136477035C>T	ExAC,gnomAD
rs769986943	p.Gly194Ser	missense variant	-	NC_000009.12:g.136477036C>T	ExAC,gnomAD
rs748137309	p.Pro198Ala	missense variant	-	NC_000009.12:g.136477024G>C	ExAC,gnomAD
COSM1106841	p.Ala199Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136477020G>A	NCI-TCGA Cosmic
COSM3996440	p.Ala200Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136477017G>A	NCI-TCGA Cosmic
rs778692163	p.Ser201Cys	missense variant	-	NC_000009.12:g.136477014G>C	ExAC,gnomAD
rs754842293	p.Pro202Ser	missense variant	-	NC_000009.12:g.136477012G>A	ExAC,TOPMed,gnomAD
COSM3655769	p.Pro205Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136477003G>A	NCI-TCGA Cosmic
rs766194805	p.Gln206His	missense variant	-	NC_000009.12:g.136476998C>A	ExAC,TOPMed,gnomAD
rs766194805	p.Gln206His	missense variant	-	NC_000009.12:g.136476998C>G	ExAC,TOPMed,gnomAD
rs139432783	p.Pro207Ser	missense variant	-	NC_000009.12:g.136476997G>A	1000Genomes,ExAC,gnomAD
rs1359478994	p.Leu209Val	missense variant	-	NC_000009.12:g.136476991G>C	TOPMed,gnomAD
NCI-TCGA novel	p.Met211Ile	missense variant	-	NC_000009.12:g.136476983C>G	NCI-TCGA
rs958235841	p.Met211Leu	missense variant	-	NC_000009.12:g.136476985T>G	TOPMed
rs1423521250	p.Gly213Val	missense variant	-	NC_000009.12:g.136476978C>A	gnomAD
rs1423521250	p.Gly213Val	missense variant	-	NC_000009.12:g.136476978C>A	NCI-TCGA
rs978372255	p.Gln214Arg	missense variant	-	NC_000009.12:g.136476975T>C	TOPMed,gnomAD
rs545983519	p.Gly216Arg	missense variant	-	NC_000009.12:g.136476970C>G	1000Genomes,ExAC,gnomAD
rs1220226278	p.Gly216Glu	missense variant	-	NC_000009.12:g.136476969C>T	gnomAD
rs761183998	p.Pro217Leu	missense variant	-	NC_000009.12:g.136476966G>A	ExAC,gnomAD
NCI-TCGA novel	p.Val218Gly	missense variant	-	NC_000009.12:g.136476963A>C	NCI-TCGA
rs775843580	p.Gly221Asp	missense variant	-	NC_000009.12:g.136476954C>T	ExAC,TOPMed,gnomAD
rs775843580	p.Gly221Ala	missense variant	-	NC_000009.12:g.136476954C>G	ExAC,TOPMed,gnomAD
rs1435858684	p.Pro222Arg	missense variant	-	NC_000009.12:g.136476951G>C	TOPMed,gnomAD
rs746118290	p.Pro222Ser	missense variant	-	NC_000009.12:g.136476952G>A	ExAC,gnomAD
rs1435858684	p.Pro222Leu	missense variant	-	NC_000009.12:g.136476951G>A	TOPMed,gnomAD
rs771090543	p.Gln223Glu	missense variant	-	NC_000009.12:g.136476949G>C	ExAC,TOPMed,gnomAD
rs747030265	p.Pro224Ser	missense variant	-	NC_000009.12:g.136476946G>A	ExAC,TOPMed,gnomAD
rs560387522	p.Pro224Leu	missense variant	-	NC_000009.12:g.136476945G>A	1000Genomes,ExAC,gnomAD
rs560387522	p.Pro224His	missense variant	-	NC_000009.12:g.136476945G>T	1000Genomes,ExAC,gnomAD
rs749181626	p.Ser225Leu	missense variant	-	NC_000009.12:g.136476942G>A	ExAC,TOPMed,gnomAD
rs749181626	p.Ser225Trp	missense variant	-	NC_000009.12:g.136476942G>C	ExAC,TOPMed,gnomAD
rs1426488301	p.Gly226Glu	missense variant	-	NC_000009.12:g.136476939C>T	gnomAD
rs1198924963	p.His228Arg	missense variant	-	NC_000009.12:g.136476933T>C	TOPMed,gnomAD
rs542191614	p.His228Tyr	missense variant	-	NC_000009.12:g.136476934G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs542191614	p.His228Asp	missense variant	-	NC_000009.12:g.136476934G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs751016125	p.Arg229Leu	missense variant	-	NC_000009.12:g.136476930C>A	ExAC,TOPMed,gnomAD
rs751016125	p.Arg229Pro	missense variant	-	NC_000009.12:g.136476930C>G	ExAC,TOPMed,gnomAD
rs756854879	p.Arg229Cys	missense variant	-	NC_000009.12:g.136476931G>A	ExAC,TOPMed,gnomAD
rs756854879	p.Arg229Ser	missense variant	-	NC_000009.12:g.136476931G>T	ExAC,TOPMed,gnomAD
rs1205368851	p.Ser230Leu	missense variant	-	NC_000009.12:g.136476927G>A	gnomAD
COSM5087552	p.Pro231Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136476925G>T	NCI-TCGA Cosmic
rs757813112	p.Cys232Tyr	missense variant	-	NC_000009.12:g.136476921C>T	ExAC,TOPMed,gnomAD
rs969871585	p.Pro233Arg	missense variant	-	NC_000009.12:g.136476918G>C	gnomAD
NCI-TCGA novel	p.Pro233Ser	missense variant	-	NC_000009.12:g.136476919G>A	NCI-TCGA
rs969871585	p.Pro233Leu	missense variant	-	NC_000009.12:g.136476918G>A	gnomAD
COSM422444	p.Glu234Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.136476916C>A	NCI-TCGA Cosmic
rs369856596	p.Pro236Ala	missense variant	-	NC_000009.12:g.136476910G>C	ESP,ExAC,TOPMed,gnomAD
rs1311701360	p.Val237Ile	missense variant	-	NC_000009.12:g.136476907C>T	TOPMed,gnomAD
rs1311701360	p.Val237Phe	missense variant	-	NC_000009.12:g.136476907C>A	TOPMed,gnomAD
COSM3655767	p.Pro238Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136476904G>A	NCI-TCGA Cosmic
rs759871033	p.Ser239Asn	missense variant	-	NC_000009.12:g.136476900C>T	ExAC,TOPMed,gnomAD
rs992083744	p.Ser239Cys	missense variant	-	NC_000009.12:g.136476901T>A	gnomAD
rs992083744	p.Ser239Arg	missense variant	-	NC_000009.12:g.136476901T>G	gnomAD
rs771055105	p.Gly240Arg	missense variant	-	NC_000009.12:g.136476898C>T	ExAC,gnomAD
rs772213098	p.Pro242Leu	missense variant	-	NC_000009.12:g.136476891G>A	ExAC,gnomAD
rs773181129	p.Pro242Ser	missense variant	-	NC_000009.12:g.136476892G>A	ExAC,gnomAD
rs1438655246	p.Cys243Ser	missense variant	-	NC_000009.12:g.136476888C>G	gnomAD
rs745642879	p.Val247Ile	missense variant	-	NC_000009.12:g.136476877C>T	ExAC,gnomAD
rs1280707418	p.Pro248Leu	missense variant	-	NC_000009.12:g.136476873G>A	TOPMed,gnomAD
rs1255340548	p.Pro248Ser	missense variant	-	NC_000009.12:g.136476874G>A	gnomAD
rs780952432	p.Pro251Ser	missense variant	-	NC_000009.12:g.136476865G>A	ExAC,TOPMed,gnomAD
rs144576556	p.Pro251Arg	missense variant	-	NC_000009.12:g.136476864G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs780952432	p.Pro251Ser	missense variant	-	NC_000009.12:g.136476865G>A	NCI-TCGA
rs1162908491	p.Thr252Pro	missense variant	-	NC_000009.12:g.136476862T>G	TOPMed
rs369745626	p.Pro253Ser	missense variant	-	NC_000009.12:g.136476859G>A	ESP,ExAC,gnomAD
rs777294928	p.Pro253Leu	missense variant	-	NC_000009.12:g.136476858G>A	ExAC,gnomAD
rs777294928	p.Pro253Leu	missense variant	-	NC_000009.12:g.136476858G>A	NCI-TCGA,NCI-TCGA Cosmic
rs1307416474	p.Ile255Ser	missense variant	-	NC_000009.12:g.136476852A>C	gnomAD
rs1376357056	p.Ile255Val	missense variant	-	NC_000009.12:g.136476853T>C	gnomAD
rs759960923	p.His257Tyr	missense variant	-	NC_000009.12:g.136476847G>A	ExAC,gnomAD
rs1029572146	p.Gln258Arg	missense variant	-	NC_000009.12:g.136476843T>C	TOPMed,gnomAD
rs754139871	p.Gly259Ser	missense variant	-	NC_000009.12:g.136476841C>T	ExAC,gnomAD
rs1446573835	p.His262Arg	missense variant	-	NC_000009.12:g.136476831T>C	TOPMed
rs1291091779	p.His265Tyr	missense variant	-	NC_000009.12:g.136476823G>A	TOPMed
rs773446232	p.His265Gln	missense variant	-	NC_000009.12:g.136476821G>C	ExAC,TOPMed,gnomAD
rs558843142	p.His265Arg	missense variant	-	NC_000009.12:g.136476822T>C	1000Genomes,ExAC,gnomAD
rs375989995	p.Ser266Asn	missense variant	-	NC_000009.12:g.136476819C>T	ESP,TOPMed
rs772303007	p.Pro267Ser	missense variant	-	NC_000009.12:g.136476817G>A	ExAC,gnomAD
rs1424148547	p.Val269Leu	missense variant	-	NC_000009.12:g.136476811C>A	gnomAD
COSM3655765	p.Pro271Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136476804G>A	NCI-TCGA Cosmic
rs188027809	p.Pro272Leu	missense variant	-	NC_000009.12:g.136476801G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs188027809	p.Pro272Gln	missense variant	-	NC_000009.12:g.136476801G>T	1000Genomes,ExAC,TOPMed,gnomAD
COSM5123581	p.Ala273Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136476798G>A	NCI-TCGA Cosmic
COSM6115376	p.Ala273Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136476799C>A	NCI-TCGA Cosmic
rs745756231	p.Ala274Val	missense variant	-	NC_000009.12:g.136476795G>A	ExAC,TOPMed,gnomAD
rs745756231	p.Ala274Gly	missense variant	-	NC_000009.12:g.136476795G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro276Ser	missense variant	-	NC_000009.12:g.136476790G>A	NCI-TCGA
rs1402340697	p.Ser277Asn	missense variant	-	NC_000009.12:g.136476786C>T	TOPMed,gnomAD
rs770716419	p.Gly279Arg	missense variant	-	NC_000009.12:g.136476781C>T	ExAC,TOPMed,gnomAD
rs746662485	p.Arg280Thr	missense variant	-	NC_000009.12:g.136476777C>G	ExAC,gnomAD
rs1477370515	p.Asp281Tyr	missense variant	-	NC_000009.12:g.136476775C>A	gnomAD
rs1322576039	p.Glu282Lys	missense variant	-	NC_000009.12:g.136476772C>T	TOPMed,gnomAD
rs757943782	p.Val283Met	missense variant	-	NC_000009.12:g.136476769C>T	ExAC,gnomAD
rs1342872082	p.Leu286Phe	missense variant	-	NC_000009.12:g.136476758C>A	gnomAD
rs1299404772	p.Gln287Arg	missense variant	-	NC_000009.12:g.136476756T>C	gnomAD
rs1182680482	p.Gln287His	missense variant	-	NC_000009.12:g.136476755T>G	TOPMed
rs1410946414	p.Ser288Asn	missense variant	-	NC_000009.12:g.136476753C>T	TOPMed
rs752198196	p.Leu292Val	missense variant	-	NC_000009.12:g.136476742G>C	ExAC,gnomAD
rs1199770115	p.Asn294Asp	missense variant	-	NC_000009.12:g.136476736T>C	gnomAD
rs755453466	p.Asn295Asp	missense variant	-	NC_000009.12:g.136476733T>C	ExAC,TOPMed,gnomAD
rs1458055591	p.Ser296Pro	missense variant	-	NC_000009.12:g.136476730A>G	gnomAD
rs1435159817	p.Pro298Ser	missense variant	-	NC_000009.12:g.136476724G>A	gnomAD
rs199795346	p.Ser300Gly	missense variant	-	NC_000009.12:g.136476718T>C	ESP,ExAC,TOPMed,gnomAD
rs1478712151	p.Ser300Asn	missense variant	-	NC_000009.12:g.136476717C>T	TOPMed,gnomAD
rs1424239940	p.Thr301Ile	missense variant	-	NC_000009.12:g.136476714G>A	gnomAD
rs1192900788	p.Phe302Leu	missense variant	-	NC_000009.12:g.136476710G>C	gnomAD
rs1487991022	p.Arg303Gly	missense variant	-	NC_000009.12:g.136476709T>C	gnomAD
rs750662757	p.Arg307Ser	missense variant	-	NC_000009.12:g.136476695T>A	ExAC,TOPMed,gnomAD
rs1197370065	p.Arg307Lys	missense variant	-	NC_000009.12:g.136476696C>T	gnomAD
rs762038910	p.Ile308Thr	missense variant	-	NC_000009.12:g.136476693A>G	ExAC,gnomAD
rs762038910	p.Ile308Ser	missense variant	-	NC_000009.12:g.136476693A>C	ExAC,gnomAD
rs368605187	p.Val309Leu	missense variant	-	NC_000009.12:g.136476691C>G	ESP,ExAC,TOPMed,gnomAD
rs368605187	p.Val309Met	missense variant	-	NC_000009.12:g.136476691C>T	ESP,ExAC,TOPMed,gnomAD
rs1231828721	p.His311Gln	missense variant	-	NC_000009.12:g.136476683G>T	TOPMed,gnomAD
rs759420444	p.Trp312Arg	missense variant	-	NC_000009.12:g.136476682A>G	ExAC,gnomAD
rs536581295	p.Ala313Thr	missense variant	-	NC_000009.12:g.136476679C>T	1000Genomes,ExAC,gnomAD
rs567682784	p.Ala313Gly	missense variant	-	NC_000009.12:g.136476678G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs567682784	p.Ala313Glu	missense variant	-	NC_000009.12:g.136476678G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs567682784	p.Ala313Val	missense variant	-	NC_000009.12:g.136476678G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs772914656	p.Glu316Lys	missense variant	-	NC_000009.12:g.136476670C>T	ExAC,TOPMed,gnomAD
COSM1106837	p.Glu316Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.136476670C>A	NCI-TCGA Cosmic
rs772914656	p.Glu316Gln	missense variant	-	NC_000009.12:g.136476670C>G	ExAC,TOPMed,gnomAD
rs771700463	p.Arg318Gly	missense variant	-	NC_000009.12:g.136476664T>C	ExAC,gnomAD
rs201408525	p.Arg318Lys	missense variant	-	NC_000009.12:g.136476663C>T	ESP,ExAC,TOPMed,gnomAD
rs1466958796	p.Gln319Arg	missense variant	-	NC_000009.12:g.136476660T>C	TOPMed,gnomAD
rs41306736	p.Pro321Leu	missense variant	-	NC_000009.12:g.136476654G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs754472639	p.Lys324Glu	missense variant	-	NC_000009.12:g.136476646T>C	ExAC,gnomAD
rs749784784	p.Asn325Asp	missense variant	-	NC_000009.12:g.136476643T>C	ExAC,gnomAD
rs1379302319	p.His327Tyr	missense variant	-	NC_000009.12:g.136476637G>A	TOPMed,gnomAD
rs780590882	p.Arg328Trp	missense variant	-	NC_000009.12:g.136476634G>A	ExAC,gnomAD
rs1433904976	p.Arg328Gln	missense variant	-	NC_000009.12:g.136476633C>T	TOPMed,gnomAD
rs1433904976	p.Arg328Pro	missense variant	-	NC_000009.12:g.136476633C>G	TOPMed,gnomAD
rs780590882	p.Arg328Trp	missense variant	-	NC_000009.12:g.136476634G>A	NCI-TCGA
rs750816502	p.Ala330Thr	missense variant	-	NC_000009.12:g.136476628C>T	ExAC,TOPMed,gnomAD
rs767932663	p.Ala330Val	missense variant	-	NC_000009.12:g.136476627G>A	ExAC,gnomAD
COSM4832039	p.Ser331Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136476624G>A	NCI-TCGA Cosmic
rs1200672277	p.Ser331Cys	missense variant	-	NC_000009.12:g.136476624G>C	TOPMed
rs751788583	p.Leu333Phe	missense variant	-	NC_000009.12:g.136476619G>A	ExAC,gnomAD
rs763065889	p.Asn335Ser	missense variant	-	NC_000009.12:g.136476612T>C	ExAC,TOPMed,gnomAD
rs1025325657	p.Pro336Leu	missense variant	-	NC_000009.12:g.136476609G>A	TOPMed,gnomAD
rs776471738	p.Pro336Ser	missense variant	-	NC_000009.12:g.136476610G>A	ExAC,TOPMed,gnomAD
rs760444762	p.Leu337Phe	missense variant	-	NC_000009.12:g.136476607G>A	ExAC,gnomAD
rs773004570	p.Leu337Pro	missense variant	-	NC_000009.12:g.136476606A>G	ExAC,gnomAD
rs760444762	p.Leu337Phe	missense variant	-	NC_000009.12:g.136476607G>A	NCI-TCGA
rs374603480	p.Ala338Ser	missense variant	-	NC_000009.12:g.136476604C>A	ESP,ExAC,TOPMed,gnomAD
rs374603480	p.Ala338Thr	missense variant	-	NC_000009.12:g.136476604C>T	ESP,ExAC,TOPMed,gnomAD
rs374603480	p.Ala338Thr	missense variant	-	NC_000009.12:g.136476604C>T	NCI-TCGA,NCI-TCGA Cosmic
rs768101774	p.Arg339Trp	missense variant	-	NC_000009.12:g.136476601G>A	ExAC,TOPMed,gnomAD
rs748803555	p.Arg339Gln	missense variant	-	NC_000009.12:g.136476600C>T	ExAC,TOPMed,gnomAD
rs183141757	p.Gly340Glu	missense variant	-	NC_000009.12:g.136476597C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1301411381	p.Asp341Tyr	missense variant	-	NC_000009.12:g.136476595C>A	TOPMed
rs190728828	p.Pro343Ser	missense variant	-	NC_000009.12:g.136476589G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs190728828	p.Pro343Ser	missense variant	-	NC_000009.12:g.136476589G>A	NCI-TCGA
rs1441738726	p.Glu344Lys	missense variant	-	NC_000009.12:g.136476586C>T	TOPMed,gnomAD
rs1465043272	p.Asn345Ser	missense variant	-	NC_000009.12:g.136476582T>C	TOPMed,gnomAD
rs560120664	p.Arg346Cys	missense variant	-	NC_000009.12:g.136476580G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs201222771	p.Arg346His	missense variant	-	NC_000009.12:g.136476579C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs560120664	p.Arg346Cys	missense variant	-	NC_000009.12:g.136476580G>A	NCI-TCGA
rs370444806	p.Thr347Met	missense variant	-	NC_000009.12:g.136476576G>A	ESP,ExAC,TOPMed,gnomAD
rs752808800	p.His348Tyr	missense variant	-	NC_000009.12:g.136476574G>A	ExAC,gnomAD
rs760610941	p.Gly352Trp	missense variant	-	NC_000009.12:g.136476562C>A	ExAC,gnomAD
rs760610941	p.Gly352Arg	missense variant	-	NC_000009.12:g.136476562C>G	ExAC,gnomAD
rs1459090595	p.Ala353Val	missense variant	-	NC_000009.12:g.136476558G>A	TOPMed
NCI-TCGA novel	p.Ala353Asp	missense variant	-	NC_000009.12:g.136476558G>T	NCI-TCGA
rs530033385	p.Ala353Ser	missense variant	-	NC_000009.12:g.136476559C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1308155006	p.Gly354Arg	missense variant	-	NC_000009.12:g.136476556C>T	gnomAD
rs767324772	p.Gly354Glu	missense variant	-	NC_000009.12:g.136476555C>T	ExAC,gnomAD
rs1342085742	p.Ala355Val	missense variant	-	NC_000009.12:g.136476552G>A	gnomAD
rs768354427	p.Gly356Arg	missense variant	-	NC_000009.12:g.136476550C>G	ExAC,TOPMed,gnomAD
rs775065160	p.Gly356Ala	missense variant	-	NC_000009.12:g.136476549C>G	ExAC,TOPMed,gnomAD
rs775065160	p.Gly356Glu	missense variant	-	NC_000009.12:g.136476549C>T	ExAC,TOPMed,gnomAD
rs768354427	p.Gly356Arg	missense variant	-	NC_000009.12:g.136476550C>T	ExAC,TOPMed,gnomAD
rs1421610177	p.Ser357Cys	missense variant	-	NC_000009.12:g.136476546G>C	gnomAD
rs1324476067	p.Gly358Val	missense variant	-	NC_000009.12:g.136476543C>A	TOPMed
rs1381143783	p.Gly358Arg	missense variant	-	NC_000009.12:g.136476544C>G	gnomAD
rs1239524037	p.Ala360Val	missense variant	-	NC_000009.12:g.136476537G>A	gnomAD
rs769142112	p.Ala360Ser	missense variant	-	NC_000009.12:g.136476538C>A	ExAC,gnomAD
rs202022715	p.Pro361Leu	missense variant	-	NC_000009.12:g.136476534G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs187613986	p.Pro361Ser	missense variant	-	NC_000009.12:g.136476535G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1488370825	p.Glu363Ala	missense variant	-	NC_000009.12:g.136476528T>G	gnomAD
rs747372216	p.Ala364Glu	missense variant	-	NC_000009.12:g.136476525G>T	ExAC,gnomAD
rs758659758	p.Asp365His	missense variant	-	NC_000009.12:g.136476523C>G	ExAC,gnomAD
rs752795976	p.Ser366Ter	stop gained	-	NC_000009.12:g.136476519G>C	ExAC,TOPMed,gnomAD
COSM3905733	p.Ser366Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136476519G>A	NCI-TCGA Cosmic
rs1353427324	p.Gly367Val	missense variant	-	NC_000009.12:g.136476516C>A	TOPMed,gnomAD
rs1300029749	p.Ser369Leu	missense variant	-	NC_000009.12:g.136476510G>A	gnomAD
rs755003126	p.Gly370Arg	missense variant	-	NC_000009.12:g.136476508C>T	ExAC,gnomAD
rs750411223	p.Ala371Ser	missense variant	-	NC_000009.12:g.136476505C>A	ExAC,TOPMed,gnomAD
rs750411223	p.Ala371Thr	missense variant	-	NC_000009.12:g.136476505C>T	ExAC,TOPMed,gnomAD
rs112304024	p.Ala373Glu	missense variant	-	NC_000009.12:g.136476498G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs112304024	p.Ala373Val	missense variant	-	NC_000009.12:g.136476498G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1399135673	p.Ala373Ser	missense variant	-	NC_000009.12:g.136476499C>A	gnomAD
rs1475117950	p.Met374Val	missense variant	-	NC_000009.12:g.136476496T>C	gnomAD
rs763743092	p.Met374Ile	missense variant	-	NC_000009.12:g.136476494C>T	ExAC,gnomAD
rs375601006	p.Phe375Val	missense variant	-	NC_000009.12:g.136476493A>C	ESP,ExAC,TOPMed,gnomAD
rs774953185	p.Gly378Arg	missense variant	-	NC_000009.12:g.136476484C>G	ExAC,TOPMed
rs1343363030	p.Gly379Glu	missense variant	-	NC_000009.12:g.136476480C>T	gnomAD
rs769475565	p.Gly379Arg	missense variant	-	NC_000009.12:g.136476481C>T	ExAC,gnomAD
rs1261775621	p.Glu380Lys	missense variant	-	NC_000009.12:g.136476478C>T	gnomAD
rs1213076952	p.Thr381Ile	missense variant	-	NC_000009.12:g.136476474G>A	gnomAD
COSM4821866	p.Glu382Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136476472C>G	NCI-TCGA Cosmic
rs759083618	p.Asn386Ser	missense variant	-	NC_000009.12:g.136476459T>C	ExAC,TOPMed,gnomAD
rs759083618	p.Asn386Ile	missense variant	-	NC_000009.12:g.136476459T>A	ExAC,TOPMed,gnomAD
rs777342955	p.Leu387His	missense variant	-	NC_000009.12:g.136476456A>T	ExAC,gnomAD
rs771550750	p.Ser388Leu	missense variant	-	NC_000009.12:g.136476453G>A	ExAC,gnomAD
rs1045010076	p.Lys391Glu	missense variant	-	NC_000009.12:g.136476445T>C	TOPMed,gnomAD
rs747460286	p.Ala392Gly	missense variant	-	NC_000009.12:g.136476441G>C	ExAC,gnomAD
rs1163164525	p.Ala392Thr	missense variant	-	NC_000009.12:g.136476442C>T	TOPMed
rs373703673	p.Gly393Asp	missense variant	-	NC_000009.12:g.136476438C>T	1000Genomes,ESP,TOPMed,gnomAD
rs369180207	p.Leu394Val	missense variant	-	NC_000009.12:g.136476436A>C	ESP,TOPMed,gnomAD
rs778204075	p.Gly396Ser	missense variant	-	NC_000009.12:g.136476430C>T	ExAC,gnomAD
rs375033362	p.Ala398Gly	missense variant	-	NC_000009.12:g.136476423G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs375033362	p.Ala398Val	missense variant	-	NC_000009.12:g.136476423G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs371308195	p.Asp401Asn	missense variant	-	NC_000009.12:g.136476415C>T	ESP,ExAC,TOPMed,gnomAD
rs573369208	p.Asp402His	missense variant	-	NC_000009.12:g.136476412C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs573369208	p.Asp402Asn	missense variant	-	NC_000009.12:g.136476412C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs573369208	p.Asp402Asn	missense variant	-	NC_000009.12:g.136476412C>T	NCI-TCGA
rs1192671063	p.Phe403Cys	missense variant	-	NC_000009.12:g.136476408A>C	gnomAD
rs1214965435	p.Cys404Ser	missense variant	-	NC_000009.12:g.136476406A>T	TOPMed
rs774416101	p.Cys404Tyr	missense variant	-	NC_000009.12:g.136476405C>T	gnomAD
rs774416101	p.Cys404Ser	missense variant	-	NC_000009.12:g.136476405C>G	gnomAD
rs751408966	p.Ser405Phe	missense variant	-	NC_000009.12:g.136476402G>A	ExAC,gnomAD
rs1383408670	p.Ser406Ile	missense variant	-	NC_000009.12:g.136476399C>A	gnomAD
rs762630826	p.Gly408Glu	missense variant	-	NC_000009.12:g.136476393C>T	ExAC,gnomAD
rs1212873887	p.Leu409Arg	missense variant	-	NC_000009.12:g.136476390A>C	gnomAD
rs764975649	p.Arg411Gly	missense variant	-	NC_000009.12:g.136476385G>C	ExAC,TOPMed,gnomAD
rs764975649	p.Arg411Cys	missense variant	-	NC_000009.12:g.136476385G>A	ExAC,TOPMed,gnomAD
rs199827448	p.Arg411His	missense variant	-	NC_000009.12:g.136476384C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs776293499	p.Pro412Leu	missense variant	-	NC_000009.12:g.136476381G>A	ExAC,TOPMed,gnomAD
rs776293499	p.Pro412Gln	missense variant	-	NC_000009.12:g.136476381G>T	ExAC,TOPMed,gnomAD
rs776293499	p.Pro412Arg	missense variant	-	NC_000009.12:g.136476381G>C	ExAC,TOPMed,gnomAD
rs1055683103	p.Ala414Val	missense variant	-	NC_000009.12:g.136476375G>A	TOPMed,gnomAD
rs368250462	p.Ala414Thr	missense variant	-	NC_000009.12:g.136476376C>T	ESP,ExAC,TOPMed,gnomAD
rs1467671161	p.Pro415Ala	missense variant	-	NC_000009.12:g.136476373G>C	TOPMed
rs774625075	p.Thr416Ile	missense variant	-	NC_000009.12:g.136476369G>A	ExAC,gnomAD
rs1452109429	p.His417Tyr	missense variant	-	NC_000009.12:g.136476367G>A	gnomAD
rs201580918	p.His417Gln	missense variant	-	NC_000009.12:g.136476365G>C	ExAC,TOPMed,gnomAD
rs1239633284	p.His417Leu	missense variant	-	NC_000009.12:g.136476366T>A	gnomAD
rs756133621	p.Val418Leu	missense variant	-	NC_000009.12:g.136476364C>G	ExAC,TOPMed,gnomAD
rs747013490	p.Val418Gly	missense variant	-	NC_000009.12:g.136476363A>C	ExAC,gnomAD
rs756133621	p.Val418Met	missense variant	-	NC_000009.12:g.136476364C>T	ExAC,TOPMed,gnomAD
rs756133621	p.Val418Leu	missense variant	-	NC_000009.12:g.136476364C>A	ExAC,TOPMed,gnomAD
rs765065720	p.Gly419Glu	missense variant	-	NC_000009.12:g.136476360C>T	ExAC,gnomAD
rs374218992	p.Gly419Arg	missense variant	-	NC_000009.12:g.136476361C>T	ESP,ExAC,TOPMed,gnomAD
rs1210269016	p.Ala420Val	missense variant	-	NC_000009.12:g.136476357G>A	TOPMed
rs1233669273	p.Ala420Ser	missense variant	-	NC_000009.12:g.136476358C>A	gnomAD
rs1311813482	p.Gly421Ala	missense variant	-	NC_000009.12:g.136476354C>G	gnomAD
rs372517754	p.Ser422Thr	missense variant	-	NC_000009.12:g.136476351C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs372517754	p.Ser422Asn	missense variant	-	NC_000009.12:g.136476351C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1450760045	p.Leu423Pro	missense variant	-	NC_000009.12:g.136476348A>G	gnomAD
rs983654756	p.Leu423Phe	missense variant	-	NC_000009.12:g.136476349G>A	TOPMed,gnomAD
rs1360251570	p.Cys424Phe	missense variant	-	NC_000009.12:g.136476345C>A	gnomAD
rs1172410206	p.Leu428Phe	missense variant	-	NC_000009.12:g.136476334G>A	gnomAD
rs1432391283	p.Leu428Pro	missense variant	-	NC_000009.12:g.136476333A>G	TOPMed,gnomAD
rs1406482544	p.Pro429Leu	missense variant	-	NC_000009.12:g.136476330G>A	TOPMed
rs918252177	p.Gly430Asp	missense variant	-	NC_000009.12:g.136476327C>T	TOPMed
rs766010921	p.Pro431Ser	missense variant	-	NC_000009.12:g.136476325G>A	ExAC,gnomAD
rs1405460612	p.Ser432Asn	missense variant	-	NC_000009.12:g.136476321C>T	gnomAD
rs1441036909	p.Ser432Arg	missense variant	-	NC_000009.12:g.136476320G>C	TOPMed,gnomAD
rs760082920	p.Ser432Gly	missense variant	-	NC_000009.12:g.136476322T>C	ExAC,gnomAD
rs773811784	p.Asn433Ser	missense variant	-	NC_000009.12:g.136476318T>C	ExAC,TOPMed,gnomAD
rs367966773	p.Ala435Val	missense variant	-	NC_000009.12:g.136476312G>A	ESP
rs1432883166	p.Gly437Cys	missense variant	-	NC_000009.12:g.136476307C>A	TOPMed
rs762299160	p.Trp440Cys	missense variant	-	NC_000009.12:g.136476296C>G	ExAC,gnomAD
rs1441239230	p.Gly441Asp	missense variant	-	NC_000009.12:g.136476294C>T	TOPMed
rs1441239230	p.Gly441Ala	missense variant	-	NC_000009.12:g.136476294C>G	TOPMed
rs1296217923	p.Asp442Val	missense variant	-	NC_000009.12:g.136476291T>A	TOPMed
NCI-TCGA novel	p.Thr443Lys	missense variant	-	NC_000009.12:g.136476288G>T	NCI-TCGA
rs1484772553	p.Ala444Val	missense variant	-	NC_000009.12:g.136476285G>A	TOPMed,gnomAD
rs768946754	p.Thr446Ala	missense variant	-	NC_000009.12:g.136476280T>C	ExAC,gnomAD
rs1355433018	p.Thr446Ile	missense variant	-	NC_000009.12:g.136476279G>A	gnomAD
rs370132051	p.Gly447Glu	missense variant	-	NC_000009.12:g.136476276C>T	ESP,ExAC,TOPMed,gnomAD
rs370132051	p.Gly447Ala	missense variant	-	NC_000009.12:g.136476276C>G	ESP,ExAC,TOPMed,gnomAD
rs1230399057	p.Val448Gly	missense variant	-	NC_000009.12:g.136476273A>C	gnomAD
rs376213692	p.Pro449Leu	missense variant	-	NC_000009.12:g.136476270G>A	ESP,ExAC,TOPMed,gnomAD
rs953873090	p.Asp450Ala	missense variant	-	NC_000009.12:g.136476267T>G	TOPMed,gnomAD
rs1436837521	p.Ala451Thr	missense variant	-	NC_000009.12:g.136476265C>T	TOPMed
rs1361956071	p.Ala451Val	missense variant	-	NC_000009.12:g.136476264G>A	gnomAD
rs758274068	p.Ser452Gly	missense variant	-	NC_000009.12:g.136476262T>C	ExAC,gnomAD
rs758274068	p.Ser452Cys	missense variant	-	NC_000009.12:g.136476262T>A	ExAC,gnomAD
rs748061636	p.Gly453Ser	missense variant	-	NC_000009.12:g.136476259C>T	ExAC,TOPMed,gnomAD
rs778873081	p.Gly453Ala	missense variant	-	NC_000009.12:g.136476258C>G	ExAC,gnomAD
rs1417079128	p.Ser454Pro	missense variant	-	NC_000009.12:g.136476256A>G	gnomAD
rs754780144	p.Ser454Leu	missense variant	-	NC_000009.12:g.136476255G>A	ExAC,gnomAD
rs779829042	p.Gln455Arg	missense variant	-	NC_000009.12:g.136476252T>C	ExAC,gnomAD
rs749894095	p.Tyr456His	missense variant	-	NC_000009.12:g.136476250A>G	ExAC,gnomAD
rs766982400	p.Glu460Asp	missense variant	-	NC_000009.12:g.136476236C>A	ExAC,gnomAD
rs1259242275	p.Glu460Gln	missense variant	-	NC_000009.12:g.136476238C>G	gnomAD
rs896445312	p.Glu463Asp	missense variant	-	NC_000009.12:g.136476227T>G	TOPMed,gnomAD
rs762236641	p.Glu463Ter	stop gained	-	NC_000009.12:g.136476229C>A	ExAC,gnomAD
rs762236641	p.Glu463Ter	stop gained	-	NC_000009.12:g.136476229C>A	NCI-TCGA
rs1342970256	p.Phe464Leu	missense variant	-	NC_000009.12:g.136476226A>G	TOPMed,gnomAD
rs1381175782	p.Gln466Lys	missense variant	-	NC_000009.12:g.136476220G>T	TOPMed,gnomAD
rs1382312643	p.Gln468Ter	stop gained	-	NC_000009.12:g.136476214G>A	gnomAD
rs1294996552	p.Gln468Arg	missense variant	-	NC_000009.12:g.136476213T>C	gnomAD
rs763285724	p.Glu469Asp	missense variant	-	NC_000009.12:g.136476209T>G	ExAC,gnomAD
rs1458195956	p.Glu469Ala	missense variant	-	NC_000009.12:g.136476210T>G	TOPMed,gnomAD
rs548428204	p.Pro472Ser	missense variant	-	NC_000009.12:g.136476202G>A	1000Genomes,ExAC,gnomAD
rs191198270	p.Ser473Asn	missense variant	-	NC_000009.12:g.136476198C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs562760503	p.Ser473Arg	missense variant	-	NC_000009.12:g.136476197A>C	1000Genomes,ExAC,gnomAD
rs770994307	p.Leu476Phe	missense variant	-	NC_000009.12:g.136476190G>A	ExAC,TOPMed,gnomAD
rs748128386	p.Asn477Ser	missense variant	-	NC_000009.12:g.136476186T>C	ExAC,gnomAD
NCI-TCGA novel	p.Asn477Asp	missense variant	-	NC_000009.12:g.136476187T>C	NCI-TCGA
rs1252469869	p.Pro480Ala	missense variant	-	NC_000009.12:g.136476178G>C	gnomAD
rs373101405	p.Ser482Tyr	missense variant	-	NC_000009.12:g.136476171G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs373101405	p.Ser482Cys	missense variant	-	NC_000009.12:g.136476171G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs373101405	p.Ser482Phe	missense variant	-	NC_000009.12:g.136476171G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs756764916	p.Pro483Leu	missense variant	-	NC_000009.12:g.136476168G>A	ExAC,TOPMed,gnomAD
rs756764916	p.Pro483Leu	missense variant	-	NC_000009.12:g.136476168G>A	NCI-TCGA,NCI-TCGA Cosmic
COSM6183168	p.Ser484Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136476165C>G	NCI-TCGA Cosmic
rs375827815	p.Asp485Glu	missense variant	-	NC_000009.12:g.136476161G>T	ESP
rs542738859	p.Gln486His	missense variant	-	NC_000009.12:g.136476158C>A	TOPMed,gnomAD
rs139275709	p.Phe487Leu	missense variant	-	NC_000009.12:g.136476155G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs139275709	p.Phe487Leu	missense variant	-	NC_000009.12:g.136476155G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1448791023	p.Arg488Gly	missense variant	-	NC_000009.12:g.136476154T>C	gnomAD
rs1400934669	p.Tyr489Cys	missense variant	-	NC_000009.12:g.136476150T>C	gnomAD
rs1467510806	p.Pro491Leu	missense variant	-	NC_000009.12:g.136476144G>A	TOPMed
rs1178362888	p.Leu492Val	missense variant	-	NC_000009.12:g.136476142G>C	gnomAD
rs1190641825	p.Pro493Ser	missense variant	-	NC_000009.12:g.136476139G>A	TOPMed
rs1242763164	p.Pro493Leu	missense variant	-	NC_000009.12:g.136476138G>A	TOPMed
rs759700590	p.Gly494Glu	missense variant	-	NC_000009.12:g.136476135C>T	ExAC,gnomAD
rs759700590	p.Gly494Val	missense variant	-	NC_000009.12:g.136476135C>A	ExAC,gnomAD
rs1454823227	p.Gly494Arg	missense variant	-	NC_000009.12:g.136476136C>G	TOPMed,gnomAD
rs1043808383	p.Ala496Val	missense variant	-	NC_000009.12:g.136476129G>A	gnomAD
rs1043808383	p.Ala496Gly	missense variant	-	NC_000009.12:g.136476129G>C	gnomAD
NCI-TCGA novel	p.Pro498His	missense variant	-	NC_000009.12:g.136476123G>T	NCI-TCGA
rs1338046982	p.Arg499Gly	missense variant	-	NC_000009.12:g.136476121T>C	gnomAD
NCI-TCGA novel	p.Gly501Ala	missense variant	-	NC_000009.12:g.136476114C>G	NCI-TCGA
rs1416176550	p.Gly501Val	missense variant	-	NC_000009.12:g.136476114C>A	TOPMed
rs368845427	p.Ala502Pro	missense variant	-	NC_000009.12:g.136476112C>G	ESP,ExAC,TOPMed,gnomAD
rs760814230	p.Ala502Gly	missense variant	-	NC_000009.12:g.136476111G>C	ExAC,gnomAD
rs760814230	p.Ala502Val	missense variant	-	NC_000009.12:g.136476111G>A	ExAC,gnomAD
rs1346683779	p.Val503Met	missense variant	-	NC_000009.12:g.136476109C>T	gnomAD
NCI-TCGA novel	p.Cys504Tyr	missense variant	-	NC_000009.12:g.136476105C>T	NCI-TCGA
rs774487311	p.Thr506Ala	missense variant	-	NC_000009.12:g.136476100T>C	ExAC,gnomAD
rs746070589	p.Gly507Val	missense variant	-	NC_000009.12:g.136476096C>A	ExAC,TOPMed,gnomAD
rs200035717	p.Gly507Arg	missense variant	-	NC_000009.12:g.136476097C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs745534567	p.Pro509Ala	missense variant	-	NC_000009.12:g.136476091G>C	ExAC,TOPMed,gnomAD
rs780879254	p.Asp510Asn	missense variant	-	NC_000009.12:g.136476088C>T	ExAC,gnomAD
rs746520963	p.Asp510Gly	missense variant	-	NC_000009.12:g.136476087T>C	ExAC,TOPMed,gnomAD
rs746520963	p.Asp510Ala	missense variant	-	NC_000009.12:g.136476087T>G	ExAC,TOPMed,gnomAD
rs1172054171	p.Thr512Pro	missense variant	-	NC_000009.12:g.136476082T>G	gnomAD
rs1441907486	p.Thr512Arg	missense variant	-	NC_000009.12:g.136476081G>C	gnomAD
COSM5125003	p.Thr512Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136476082T>C	NCI-TCGA Cosmic
rs1436515537	p.Val516Ala	missense variant	-	NC_000009.12:g.136476069A>G	gnomAD
rs1258949144	p.Pro518Arg	missense variant	-	NC_000009.12:g.136476063G>C	gnomAD
rs1234338300	p.Pro518Ser	missense variant	-	NC_000009.12:g.136476064G>A	TOPMed
rs758920577	p.Asp519Glu	missense variant	-	NC_000009.12:g.136476059G>C	ExAC,TOPMed,gnomAD
rs753199447	p.Ser520Asn	missense variant	-	NC_000009.12:g.136476057C>T	ExAC,gnomAD
rs765552132	p.Val521Leu	missense variant	-	NC_000009.12:g.136476055C>A	ExAC,gnomAD
rs765552132	p.Val521Met	missense variant	-	NC_000009.12:g.136476055C>T	ExAC,gnomAD
rs887914749	p.Ser522Leu	missense variant	-	NC_000009.12:g.136476051G>A	TOPMed
rs1241806297	p.Ser523Phe	missense variant	-	NC_000009.12:g.136476048G>A	gnomAD
rs754056036	p.Ser524Gly	missense variant	-	NC_000009.12:g.136476046T>C	ExAC,gnomAD
rs766608538	p.Tyr525Cys	missense variant	-	NC_000009.12:g.136476042T>C	ExAC,gnomAD
rs760902142	p.Ser526Thr	missense variant	-	NC_000009.12:g.136476039C>G	ExAC,gnomAD
rs1451618059	p.Ser527Asn	missense variant	-	NC_000009.12:g.136476036C>T	TOPMed,gnomAD
rs1374981102	p.Arg528Gly	missense variant	-	NC_000009.12:g.136476034T>C	gnomAD
COSM3655759	p.Ser529Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136476030C>T	NCI-TCGA Cosmic
rs1402630519	p.Gly531Arg	missense variant	-	NC_000009.12:g.136476025C>T	gnomAD
rs201375263	p.Leu533Pro	missense variant	-	NC_000009.12:g.136476018A>G	ESP,ExAC,TOPMed,gnomAD
rs201375263	p.Leu533Arg	missense variant	-	NC_000009.12:g.136476018A>C	ESP,ExAC,TOPMed,gnomAD
rs1468983508	p.Ser534Leu	missense variant	-	NC_000009.12:g.136476015G>A	gnomAD
rs1189328896	p.Gly535Asp	missense variant	-	NC_000009.12:g.136476012C>T	gnomAD
rs775453789	p.Ser536Leu	missense variant	-	NC_000009.12:g.136476009G>A	ExAC,gnomAD
rs1475638762	p.Ala537Gly	missense variant	-	NC_000009.12:g.136476006G>C	TOPMed
rs769530304	p.Ala537Pro	missense variant	-	NC_000009.12:g.136476007C>G	ExAC,gnomAD
rs1447160701	p.Arg538Lys	missense variant	-	NC_000009.12:g.136476003C>T	gnomAD
rs180868261	p.Pro539Leu	missense variant	-	NC_000009.12:g.136476000G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs180868261	p.Pro539His	missense variant	-	NC_000009.12:g.136476000G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln540His	missense variant	-	NC_000009.12:g.136475996C>A	NCI-TCGA
rs372382873	p.Val543Ala	missense variant	-	NC_000009.12:g.136475988A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs777288814	p.Phe546Leu	missense variant	-	NC_000009.12:g.136475978G>C	ExAC,gnomAD
rs757864363	p.Ile547Val	missense variant	-	NC_000009.12:g.136475977T>C	ExAC,gnomAD
rs755355232	p.Gln548Arg	missense variant	-	NC_000009.12:g.136475973T>C	ExAC,gnomAD
rs779452940	p.Gln548Lys	missense variant	-	NC_000009.12:g.136475974G>T	ExAC,gnomAD
rs779452940	p.Gln548Glu	missense variant	-	NC_000009.12:g.136475974G>C	ExAC,gnomAD
rs1397076929	p.Val551Ala	missense variant	-	NC_000009.12:g.136475964A>G	gnomAD
rs575474560	p.Glu555Lys	missense variant	-	NC_000009.12:g.136475953C>T	1000Genomes,ExAC,gnomAD
rs1335596680	p.Asp556Val	missense variant	-	NC_000009.12:g.136475949T>A	TOPMed
NCI-TCGA novel	p.Ser561Ile	missense variant	-	NC_000009.12:g.136475934C>A	NCI-TCGA
COSM3215700	p.Phe563LeuPheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.136475927A>-	NCI-TCGA Cosmic
NCI-TCGA novel	p.Lys564Ter	frameshift	-	NC_000009.12:g.136475926_136475927insA	NCI-TCGA
rs767733979	p.Gln565Arg	missense variant	-	NC_000009.12:g.136475922T>C	ExAC,gnomAD
rs1325634187	p.Ile566Thr	missense variant	-	NC_000009.12:g.136475919A>G	TOPMed,gnomAD
rs761949149	p.Asp567Asn	missense variant	-	NC_000009.12:g.136475917C>T	ExAC,gnomAD
rs761949149	p.Asp567Asn	missense variant	-	NC_000009.12:g.136475917C>T	NCI-TCGA
rs765220394	p.Ser568Tyr	missense variant	-	NC_000009.12:g.136475913G>T	ExAC,gnomAD
rs1212847880	p.Ser569Phe	missense variant	-	NC_000009.12:g.136475910G>A	gnomAD
rs770664435	p.Pro570Leu	missense variant	-	NC_000009.12:g.136475907G>A	ExAC,gnomAD
rs776501804	p.Pro570Ser	missense variant	-	NC_000009.12:g.136475908G>A	ExAC,gnomAD
rs772819804	p.Val571Ile	missense variant	-	NC_000009.12:g.136475905C>T	ExAC,TOPMed,gnomAD
rs1350561096	p.Val571Gly	missense variant	-	NC_000009.12:g.136475904A>C	TOPMed
rs772819804	p.Val571Leu	missense variant	-	NC_000009.12:g.136475905C>A	ExAC,TOPMed,gnomAD
rs772819804	p.Val571Ile	missense variant	-	NC_000009.12:g.136475905C>T	NCI-TCGA
rs1282554526	p.Gly572Glu	missense variant	-	NC_000009.12:g.136475901C>T	TOPMed
rs1428841108	p.Gly573Val	missense variant	-	NC_000009.12:g.136475898C>A	gnomAD
rs747679563	p.Asp576Glu	missense variant	-	NC_000009.12:g.136475888G>T	ExAC,TOPMed,gnomAD
rs779354617	p.Glu577Lys	missense variant	-	NC_000009.12:g.136475887C>T	ExAC,gnomAD
rs769208792	p.Glu577Asp	missense variant	-	NC_000009.12:g.136475885C>A	ExAC,gnomAD
rs779354617	p.Glu577Lys	missense variant	-	NC_000009.12:g.136475887C>T	NCI-TCGA
rs769208792	p.Glu577Asp	missense variant	-	NC_000009.12:g.136475885C>G	ExAC,gnomAD
rs1173214045	p.Thr578Ser	missense variant	-	NC_000009.12:g.136475883G>C	gnomAD
rs750710151	p.Arg585His	missense variant	-	NC_000009.12:g.136475862C>T	ExAC,gnomAD
rs756503716	p.Arg585Cys	missense variant	-	NC_000009.12:g.136475863G>A	ExAC,TOPMed,gnomAD
rs1253259311	p.Ser587Ile	missense variant	-	NC_000009.12:g.136475856C>A	TOPMed,gnomAD
rs1253259311	p.Ser587Asn	missense variant	-	NC_000009.12:g.136475856C>T	TOPMed,gnomAD
rs751666829	p.Val588Ala	missense variant	-	NC_000009.12:g.136475853A>G	ExAC,gnomAD
rs757350105	p.Val588Met	missense variant	-	NC_000009.12:g.136475854C>T	ExAC,TOPMed,gnomAD
rs1205071374	p.Ser589Cys	missense variant	-	NC_000009.12:g.136475850G>C	gnomAD
rs764025729	p.Gln590Ter	stop gained	-	NC_000009.12:g.136475848G>A	ExAC,gnomAD
rs1350307764	p.Thr593Asn	missense variant	-	NC_000009.12:g.136475838G>T	gnomAD
rs753737220	p.Pro594Arg	missense variant	-	NC_000009.12:g.136475835G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro594Gln	missense variant	-	NC_000009.12:g.136475835G>T	NCI-TCGA
rs753737220	p.Pro594Leu	missense variant	-	NC_000009.12:g.136475835G>A	ExAC,TOPMed,gnomAD
rs766202220	p.Ser595Thr	missense variant	-	NC_000009.12:g.136475832C>G	ExAC,gnomAD
rs985192687	p.Pro596Leu	missense variant	-	NC_000009.12:g.136475829G>A	TOPMed,gnomAD
rs771708463	p.Pro597Ala	missense variant	-	NC_000009.12:g.136475827G>C	ExAC,TOPMed,gnomAD
rs56110017	p.Pro597Leu	missense variant	-	NC_000009.12:g.136475826G>A	ESP,ExAC,TOPMed,gnomAD
rs771708463	p.Pro597Ser	missense variant	-	NC_000009.12:g.136475827G>A	ExAC,TOPMed,gnomAD
COSM5136388	p.Pro597ArgPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.136475826G>-	NCI-TCGA Cosmic
rs56110017	p.Pro597Arg	missense variant	-	NC_000009.12:g.136475826G>C	ESP,ExAC,TOPMed,gnomAD
rs1237499212	p.Pro599His	missense variant	-	NC_000009.12:g.136475820G>T	TOPMed
rs1395275196	p.Gly601Glu	missense variant	-	NC_000009.12:g.136475814C>T	gnomAD
rs368089712	p.Ile602Val	missense variant	-	NC_000009.12:g.136475812T>C	ESP,ExAC,TOPMed,gnomAD
rs1452208247	p.Gln604Arg	missense variant	-	NC_000009.12:g.136475805T>C	TOPMed,gnomAD
rs1409835587	p.Gln604His	missense variant	-	NC_000009.12:g.136475804C>G	gnomAD
rs1177575422	p.Thr605Ile	missense variant	-	NC_000009.12:g.136475802G>A	gnomAD
rs200888726	p.Ala607Thr	missense variant	-	NC_000009.12:g.136475797C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs780671607	p.Asn608Asp	missense variant	-	NC_000009.12:g.136475794T>C	ExAC,gnomAD
rs1032173048	p.Ser610Tyr	missense variant	-	NC_000009.12:g.136475787G>T	TOPMed,gnomAD
rs1032173048	p.Ser610Phe	missense variant	-	NC_000009.12:g.136475787G>A	TOPMed,gnomAD
rs781638082	p.Glu612Lys	missense variant	-	NC_000009.12:g.136475782C>T	ExAC,TOPMed,gnomAD
rs781638082	p.Glu612Lys	missense variant	-	NC_000009.12:g.136475782C>T	NCI-TCGA
rs371898934	p.Pro613Leu	missense variant	-	NC_000009.12:g.136475778G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys615Ile	missense variant	-	NC_000009.12:g.136475772T>A	NCI-TCGA
rs190874245	p.Lys615Asn	missense variant	-	NC_000009.12:g.136475771T>A	1000Genomes,ExAC,gnomAD
rs1453289090	p.Lys615Arg	missense variant	-	NC_000009.12:g.136475772T>C	TOPMed
rs1373236372	p.Ser616Pro	missense variant	-	NC_000009.12:g.136475770A>G	gnomAD
rs76562693	p.His617Gln	missense variant	-	NC_000009.12:g.136475765G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs370620920	p.Leu618Ser	missense variant	-	NC_000009.12:g.136475763A>G	ESP,ExAC,TOPMed,gnomAD
rs1311778031	p.Gly620Glu	missense variant	-	NC_000009.12:g.136475757C>T	gnomAD
rs1159534934	p.Pro623Ser	missense variant	-	NC_000009.12:g.136475749G>A	gnomAD
rs1258629870	p.Phe624Leu	missense variant	-	NC_000009.12:g.136475746A>G	gnomAD
rs181091537	p.Arg628His	missense variant	-	NC_000009.12:g.136475733C>T	1000Genomes,ESP,ExAC,gnomAD
rs186399867	p.Arg628Cys	missense variant	-	NC_000009.12:g.136475734G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs181091537	p.Arg628His	missense variant	-	NC_000009.12:g.136475733C>T	NCI-TCGA,NCI-TCGA Cosmic
rs372757162	p.Ala629Thr	missense variant	-	NC_000009.12:g.136475731C>T	ESP,ExAC,TOPMed,gnomAD
rs1210293842	p.Asn630Ser	missense variant	-	NC_000009.12:g.136475727T>C	gnomAD
rs1258228351	p.Asn630His	missense variant	-	NC_000009.12:g.136475728T>G	gnomAD
rs369229593	p.Asn630Lys	missense variant	-	NC_000009.12:g.136475726G>C	ESP,ExAC,TOPMed,gnomAD
rs1210293842	p.Asn630Ile	missense variant	-	NC_000009.12:g.136475727T>A	gnomAD
rs369229593	p.Asn630Lys	missense variant	-	NC_000009.12:g.136475726G>T	ESP,ExAC,TOPMed,gnomAD
rs1262761726	p.Val631Met	missense variant	-	NC_000009.12:g.136475725C>T	gnomAD
rs1262761726	p.Val631Met	missense variant	-	NC_000009.12:g.136475725C>T	NCI-TCGA
rs1316760268	p.Glu634Gln	missense variant	-	NC_000009.12:g.136475716C>G	gnomAD
rs1309557085	p.Glu637Lys	missense variant	-	NC_000009.12:g.136475707C>T	TOPMed
rs770432903	p.Thr638Ala	missense variant	-	NC_000009.12:g.136475704T>C	ExAC,gnomAD
rs770432903	p.Thr638Ser	missense variant	-	NC_000009.12:g.136475704T>A	ExAC,gnomAD
rs1228412898	p.Thr638Asn	missense variant	-	NC_000009.12:g.136475703G>T	TOPMed
rs536445766	p.Cys639Ser	missense variant	-	NC_000009.12:g.136475701A>T	1000Genomes,ExAC,TOPMed,gnomAD
rs536445766	p.Cys639Arg	missense variant	-	NC_000009.12:g.136475701A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1292083450	p.Cys639Tyr	missense variant	-	NC_000009.12:g.136475700C>T	gnomAD
rs569098481	p.Arg641His	missense variant	-	NC_000009.12:g.136475694C>T	1000Genomes,ExAC,gnomAD
rs541006177	p.Arg641Cys	missense variant	-	NC_000009.12:g.136475695G>A	ExAC,TOPMed,gnomAD
rs541006177	p.Arg641Cys	missense variant	-	NC_000009.12:g.136475695G>A	NCI-TCGA
rs1452770047	p.Gln642Arg	missense variant	-	NC_000009.12:g.136475691T>C	gnomAD
rs758563364	p.Cys645Gly	missense variant	-	NC_000009.12:g.136475683A>C	ExAC,gnomAD
rs916322373	p.Cys645Tyr	missense variant	-	NC_000009.12:g.136475682C>T	gnomAD
rs1417104281	p.Arg646Lys	missense variant	-	NC_000009.12:g.136475679C>T	gnomAD
rs753053908	p.Pro647Ala	missense variant	-	NC_000009.12:g.136475677G>C	TOPMed
rs750310805	p.Ala648Val	missense variant	-	NC_000009.12:g.136475673G>A	ExAC,TOPMed,gnomAD
rs750310805	p.Ala648Gly	missense variant	-	NC_000009.12:g.136475673G>C	ExAC,TOPMed,gnomAD
rs1187276474	p.Ala649Val	missense variant	-	NC_000009.12:g.136475670G>A	gnomAD
rs1187276474	p.Ala649Gly	missense variant	-	NC_000009.12:g.136475670G>C	gnomAD
rs763636931	p.Ala650Asp	missense variant	-	NC_000009.12:g.136475667G>T	ExAC,gnomAD
rs200785473	p.Ala650Thr	missense variant	-	NC_000009.12:g.136475668C>T	NCI-TCGA
rs200785473	p.Ala650Thr	missense variant	-	NC_000009.12:g.136475668C>T	ESP,ExAC,TOPMed,gnomAD
rs898098578	p.Asp653Asn	missense variant	-	NC_000009.12:g.136475659C>T	TOPMed,gnomAD
rs898098578	p.Asp653Asn	missense variant	-	NC_000009.12:g.136475659C>T	NCI-TCGA
rs755828680	p.Ser655Phe	missense variant	-	NC_000009.12:g.136475652G>A	ExAC,gnomAD
rs532320687	p.Gly657Ser	missense variant	-	NC_000009.12:g.136475647C>T	1000Genomes,ExAC,gnomAD
rs532320687	p.Gly657Arg	missense variant	-	NC_000009.12:g.136475647C>G	1000Genomes,ExAC,gnomAD
rs1167525062	p.Pro662Leu	missense variant	-	NC_000009.12:g.136475631G>A	TOPMed
rs1398511512	p.Asp664Glu	missense variant	-	NC_000009.12:g.136475624G>C	gnomAD
rs773548525	p.Asn665Ser	missense variant	-	NC_000009.12:g.136475622T>C	ExAC,gnomAD
rs773548525	p.Asn665Thr	missense variant	-	NC_000009.12:g.136475622T>G	ExAC,gnomAD
rs1162782891	p.Thr668Ser	missense variant	-	NC_000009.12:g.136475613G>C	TOPMed,gnomAD
rs199511844	p.Cys670Gly	missense variant	-	NC_000009.12:g.136475608A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs377026744	p.Cys670Tyr	missense variant	-	NC_000009.12:g.136475607C>T	ESP,ExAC,TOPMed,gnomAD
rs745843007	p.Pro672His	missense variant	-	NC_000009.12:g.136475601G>T	ExAC,gnomAD
rs745843007	p.Pro672Leu	missense variant	-	NC_000009.12:g.136475601G>A	ExAC,gnomAD
rs372499284	p.Pro676Ser	missense variant	-	NC_000009.12:g.136475590G>A	ESP,ExAC,TOPMed,gnomAD
rs757129403	p.Leu677Val	missense variant	-	NC_000009.12:g.136475587G>C	ExAC,TOPMed,gnomAD
rs751319352	p.Leu679Pro	missense variant	-	NC_000009.12:g.136475580A>G	ExAC,gnomAD
rs763895935	p.Asn680Tyr	missense variant	-	NC_000009.12:g.136475578T>A	ExAC
rs376288098	p.Thr683Met	missense variant	-	NC_000009.12:g.136475568G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs759097486	p.Ala685Val	missense variant	-	NC_000009.12:g.136475562G>A	ExAC,TOPMed,gnomAD
rs759097486	p.Ala685Gly	missense variant	-	NC_000009.12:g.136475562G>C	ExAC,TOPMed,gnomAD
rs1305226123	p.His687Tyr	missense variant	-	NC_000009.12:g.136475557G>A	gnomAD
rs1305226123	p.His687Asp	missense variant	-	NC_000009.12:g.136475557G>C	gnomAD
NCI-TCGA novel	p.Met688IlePheSerTerUnkUnk	frameshift	-	NC_000009.12:g.136475552_136475553insA	NCI-TCGA
rs371255911	p.Pro690Leu	missense variant	-	NC_000009.12:g.136475547G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs371255911	p.Pro690Arg	missense variant	-	NC_000009.12:g.136475547G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs374464364	p.His691Gln	missense variant	-	NC_000009.12:g.136475543G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1397155809	p.Ala692Val	missense variant	-	NC_000009.12:g.136475541G>A	TOPMed,gnomAD
rs1397155809	p.Ala692Glu	missense variant	-	NC_000009.12:g.136475541G>T	TOPMed,gnomAD
rs371087719	p.Ala692Thr	missense variant	-	NC_000009.12:g.136475542C>T	ESP,ExAC,TOPMed,gnomAD
rs371087719	p.Ala692Ser	missense variant	-	NC_000009.12:g.136475542C>A	ESP,ExAC,TOPMed,gnomAD
rs749311356	p.Ala694Thr	missense variant	-	NC_000009.12:g.136475536C>T	ExAC,gnomAD
rs368747402	p.Pro695Leu	missense variant	-	NC_000009.12:g.136475532G>A	NCI-TCGA,NCI-TCGA Cosmic
rs368747402	p.Pro695Leu	missense variant	-	NC_000009.12:g.136475532G>A	ESP,ExAC,TOPMed,gnomAD
rs774434354	p.Asp698Tyr	missense variant	-	NC_000009.12:g.136475524C>A	ExAC,TOPMed,gnomAD
rs1288330017	p.Asp698Gly	missense variant	-	NC_000009.12:g.136475523T>C	TOPMed
rs1383158668	p.Thr699Ala	missense variant	-	NC_000009.12:g.136475521T>C	TOPMed
rs1313650451	p.Val700Met	missense variant	-	NC_000009.12:g.136475518C>T	TOPMed
rs1310113952	p.Tyr701Cys	missense variant	-	NC_000009.12:g.136475514T>C	TOPMed,gnomAD
rs761106453	p.Glu705Ala	missense variant	-	NC_000009.12:g.136475502T>G	ExAC,gnomAD
rs765856747	p.Glu705Lys	missense variant	-	NC_000009.12:g.136475503C>T	ExAC,TOPMed,gnomAD
rs750901162	p.Glu705Asp	missense variant	-	NC_000009.12:g.136475501C>A	ExAC,gnomAD
rs767905875	p.Arg707Ser	missense variant	-	NC_000009.12:g.136475495C>A	ExAC,gnomAD
NCI-TCGA novel	p.Ser709Ter	stop gained	-	NC_000009.12:g.136475490G>C	NCI-TCGA
rs575412275	p.Ala710Thr	missense variant	-	NC_000009.12:g.136475488C>T	1000Genomes
rs762679962	p.Arg711Ser	missense variant	-	NC_000009.12:g.136475483C>A	gnomAD
NCI-TCGA novel	p.Gly714Val	missense variant	-	NC_000009.12:g.136475475C>A	NCI-TCGA
rs1368722200	p.Pro715His	missense variant	-	NC_000009.12:g.136475472G>T	gnomAD
rs1298147422	p.Pro715Ser	missense variant	-	NC_000009.12:g.136475473G>A	TOPMed,gnomAD
rs370085010	p.Val716Met	missense variant	-	NC_000009.12:g.136475470C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs370085010	p.Val716Leu	missense variant	-	NC_000009.12:g.136475470C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs370085010	p.Val716Leu	missense variant	-	NC_000009.12:g.136475470C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1401793026	p.Lys717Asn	missense variant	-	NC_000009.12:g.136475465C>A	gnomAD
rs201861927	p.Ser720Asn	missense variant	-	NC_000009.12:g.136475457C>T	ExAC,TOPMed,gnomAD
rs377428798	p.Ala722Pro	missense variant	-	NC_000009.12:g.136475452C>G	ESP,ExAC,gnomAD
rs1364872857	p.Thr723Met	missense variant	-	NC_000009.12:g.136475448G>A	TOPMed,gnomAD
rs747954759	p.Trp726Gly	missense variant	-	NC_000009.12:g.136475440A>C	ExAC,gnomAD
COSM1461097	p.Trp726GlyPheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.136475439_136475440CA>-	NCI-TCGA Cosmic
rs369856738	p.Trp726Leu	missense variant	-	NC_000009.12:g.136475439C>A	ESP,ExAC,TOPMed,gnomAD
rs377299400	p.Ala727Val	missense variant	-	NC_000009.12:g.136475436G>A	ESP,ExAC,TOPMed,gnomAD
rs377299400	p.Ala727Gly	missense variant	-	NC_000009.12:g.136475436G>C	ESP,ExAC,TOPMed,gnomAD
rs754690182	p.Ala727Ser	missense variant	-	NC_000009.12:g.136475437C>A	ExAC,gnomAD
NCI-TCGA novel	p.Gln728Ter	stop gained	-	NC_000009.12:g.136475434G>A	NCI-TCGA
rs755618295	p.Ser729Asn	missense variant	-	NC_000009.12:g.136475430C>T	ExAC,gnomAD
rs1357321234	p.Glu730Lys	missense variant	-	NC_000009.12:g.136475428C>T	gnomAD
rs1295149862	p.Leu731Val	missense variant	-	NC_000009.12:g.136475425G>C	gnomAD
NCI-TCGA novel	p.Leu731Pro	missense variant	-	NC_000009.12:g.136475424A>G	NCI-TCGA
rs1043463613	p.Pro732Ser	missense variant	-	NC_000009.12:g.136475422G>A	TOPMed,gnomAD
rs188452335	p.Asp733Glu	missense variant	-	NC_000009.12:g.136475417A>C	1000Genomes,ExAC,gnomAD
rs1332515818	p.Phe734Ser	missense variant	-	NC_000009.12:g.136475415A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Gly735Val	missense variant	-	NC_000009.12:g.136475412C>A	NCI-TCGA
NCI-TCGA novel	p.Asn737Tyr	missense variant	-	NC_000009.12:g.136475407T>A	NCI-TCGA
rs762230036	p.Asn737Lys	missense variant	-	NC_000009.12:g.136475405G>C	ExAC,TOPMed,gnomAD
rs762230036	p.Asn737Lys	missense variant	-	NC_000009.12:g.136475405G>T	ExAC,TOPMed,gnomAD
rs751923568	p.Val738Leu	missense variant	-	NC_000009.12:g.136475404C>G	ExAC,gnomAD
NCI-TCGA novel	p.Val738Phe	missense variant	-	NC_000009.12:g.136475404C>A	NCI-TCGA
rs751923568	p.Val738Ile	missense variant	-	NC_000009.12:g.136475404C>T	ExAC,gnomAD
rs751923568	p.Val738Ile	missense variant	-	NC_000009.12:g.136475404C>T	NCI-TCGA
rs1164973318	p.Ala741Val	missense variant	-	NC_000009.12:g.136475394G>A	gnomAD
rs759823940	p.Ala744Ser	missense variant	-	NC_000009.12:g.136475386C>A	ExAC,gnomAD
rs775754248	p.Pro745Leu	missense variant	-	NC_000009.12:g.136475382G>A	ExAC,TOPMed,gnomAD
rs369787385	p.Ala746Val	missense variant	-	NC_000009.12:g.136475379G>A	ESP,ExAC,TOPMed,gnomAD
rs572920071	p.Ala746Pro	missense variant	-	NC_000009.12:g.136475380C>G	1000Genomes,ExAC,gnomAD
rs201466249	p.Tyr748Ser	missense variant	-	NC_000009.12:g.136475373T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1355797721	p.Val749Met	missense variant	-	NC_000009.12:g.136475371C>T	gnomAD
rs1355797721	p.Val749Met	missense variant	-	NC_000009.12:g.136475371C>T	NCI-TCGA
rs1433111113	p.Cys750Tyr	missense variant	-	NC_000009.12:g.136475367C>T	gnomAD
rs768456918	p.Ala751Thr	missense variant	-	NC_000009.12:g.136475365C>T	ExAC,gnomAD
rs200394508	p.Ala751Gly	missense variant	-	NC_000009.12:g.136475364G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs779731282	p.Lys752Asn	missense variant	-	NC_000009.12:g.136475360T>G	ExAC,gnomAD
rs755633235	p.Pro753Arg	missense variant	-	NC_000009.12:g.136475358G>C	ExAC,gnomAD
rs367618737	p.Pro755Leu	missense variant	-	NC_000009.12:g.136475352G>A	ESP,TOPMed,gnomAD
rs1475508773	p.Pro756Arg	missense variant	-	NC_000009.12:g.136475349G>C	TOPMed,gnomAD
rs1475508773	p.Pro756Leu	missense variant	-	NC_000009.12:g.136475349G>A	TOPMed,gnomAD
rs780611596	p.Val758Ile	missense variant	-	NC_000009.12:g.136475344C>T	ExAC,gnomAD
rs952110672	p.Pro761Ser	missense variant	-	NC_000009.12:g.136475335G>A	TOPMed
rs1027701780	p.Glu763Asp	missense variant	-	NC_000009.12:g.136475327C>G	TOPMed
rs1038376291	p.Ala764Val	missense variant	-	NC_000009.12:g.136475325G>A	gnomAD
rs1216456042	p.Met765Ile	missense variant	-	NC_000009.12:g.136475321C>T	gnomAD
NCI-TCGA novel	p.Ser766Phe	missense variant	-	NC_000009.12:g.136475319G>A	NCI-TCGA
rs1340285044	p.Ser766Pro	missense variant	-	NC_000009.12:g.136475320A>G	gnomAD
rs1302057589	p.Gly767Glu	missense variant	-	NC_000009.12:g.136475316C>T	TOPMed
rs139127515	p.Gly767Arg	missense variant	-	NC_000009.12:g.136475317C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs752920904	p.Gln768Arg	missense variant	-	NC_000009.12:g.136475313T>C	ExAC,gnomAD
rs1327001306	p.Gln769His	missense variant	-	NC_000009.12:g.136475309C>A	gnomAD
rs759612740	p.Arg771Trp	missense variant	-	NC_000009.12:g.136475305G>A	ExAC,TOPMed,gnomAD
rs374699588	p.Arg771Gln	missense variant	-	NC_000009.12:g.136475304C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs759612740	p.Arg771Trp	missense variant	-	NC_000009.12:g.136475305G>A	NCI-TCGA,NCI-TCGA Cosmic
rs766516904	p.Pro773Ser	missense variant	-	NC_000009.12:g.136475299G>A	ExAC,TOPMed,gnomAD
rs761871354	p.Ser774Arg	missense variant	-	NC_000009.12:g.136475296T>G	ExAC,gnomAD
rs747047662	p.Ser775Leu	missense variant	-	NC_000009.12:g.136475292G>A	ExAC,gnomAD
rs1194426219	p.Ala776Val	missense variant	-	NC_000009.12:g.136475289G>A	TOPMed
rs769489004	p.Ala777Thr	missense variant	-	NC_000009.12:g.136475287C>T	ExAC
rs371427184	p.Pro778Leu	missense variant	-	NC_000009.12:g.136475283G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs745461841	p.Pro778Thr	missense variant	-	NC_000009.12:g.136475284G>T	ExAC,gnomAD
rs371427184	p.Pro778Leu	missense variant	-	NC_000009.12:g.136475283G>A	NCI-TCGA,NCI-TCGA Cosmic
rs747567683	p.Val779Met	missense variant	-	NC_000009.12:g.136475281C>T	ExAC,TOPMed,gnomAD
rs747567683	p.Val779Leu	missense variant	-	NC_000009.12:g.136475281C>A	ExAC,TOPMed,gnomAD
rs1168231140	p.Ser781Thr	missense variant	-	NC_000009.12:g.136475274C>G	TOPMed
rs758756567	p.Arg782Ter	stop gained	-	NC_000009.12:g.136475272G>A	ExAC,gnomAD
rs753111147	p.Arg782Gln	missense variant	-	NC_000009.12:g.136475271C>T	ExAC,TOPMed,gnomAD
rs758756567	p.Arg782Gly	missense variant	-	NC_000009.12:g.136475272G>C	ExAC,gnomAD
rs755252020	p.Ile785Phe	missense variant	-	NC_000009.12:g.136475263T>A	ExAC,gnomAD
rs754072791	p.Gly786Arg	missense variant	-	NC_000009.12:g.136475260C>G	ExAC,gnomAD
rs1461882086	p.Ala787Thr	missense variant	-	NC_000009.12:g.136475257C>T	TOPMed
rs1432234031	p.Leu791Phe	missense variant	-	NC_000009.12:g.136475245G>A	TOPMed
NCI-TCGA novel	p.Glu792Ter	stop gained	-	NC_000009.12:g.136475242C>A	NCI-TCGA
rs147304071	p.Pro794Leu	missense variant	-	NC_000009.12:g.136475235G>A	1000Genomes,ExAC,gnomAD
COSM3655757	p.Pro794Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136475236G>A	NCI-TCGA Cosmic
rs751602146	p.Pro795Leu	missense variant	-	NC_000009.12:g.136475232G>A	ExAC,TOPMed,gnomAD
rs762730684	p.Lys796Arg	missense variant	-	NC_000009.12:g.136475229T>C	ExAC,TOPMed,gnomAD
COSM3413466	p.Glu799Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136475221C>G	NCI-TCGA Cosmic
rs769438475	p.Leu803Arg	missense variant	-	NC_000009.12:g.136475208A>C	ExAC,gnomAD
rs769438475	p.Leu803Pro	missense variant	-	NC_000009.12:g.136475208A>G	ExAC,gnomAD
rs1276697065	p.Gln804Arg	missense variant	-	NC_000009.12:g.136475205T>C	TOPMed
rs1379167728	p.Ser805Cys	missense variant	-	NC_000009.12:g.136475202G>C	gnomAD
COSM3655755	p.Gln806Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136475199T>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gln806His	missense variant	-	NC_000009.12:g.136475198C>A	NCI-TCGA
rs549050600	p.Ala807Thr	missense variant	-	NC_000009.12:g.136475197C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1472227058	p.Ala807Val	missense variant	-	NC_000009.12:g.136475196G>A	gnomAD
rs1486763869	p.Ser809Tyr	missense variant	-	NC_000009.12:g.136475190G>T	gnomAD
rs770490224	p.Ser809Ala	missense variant	-	NC_000009.12:g.136475191A>C	ExAC,TOPMed,gnomAD
rs746518793	p.Gly810Asp	missense variant	-	NC_000009.12:g.136475187C>T	ExAC,gnomAD
rs777080815	p.Tyr811His	missense variant	-	NC_000009.12:g.136475185A>G	ExAC,TOPMed,gnomAD
rs1286796413	p.Tyr811Cys	missense variant	-	NC_000009.12:g.136475184T>C	gnomAD
rs1350442597	p.Ser816Phe	missense variant	-	NC_000009.12:g.136475169G>A	gnomAD
rs199651983	p.Pro818Leu	missense variant	-	NC_000009.12:g.136475163G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs779398910	p.Thr820Ala	missense variant	-	NC_000009.12:g.136475158T>C	ExAC,TOPMed,gnomAD
rs1445375713	p.Gln824Arg	missense variant	-	NC_000009.12:g.136475145T>C	gnomAD
rs368510870	p.Asn825Ser	missense variant	-	NC_000009.12:g.136475142T>C	ESP,ExAC,TOPMed,gnomAD
rs1264167795	p.Pro826Leu	missense variant	-	NC_000009.12:g.136475139G>A	gnomAD
rs1159604190	p.Pro827Ser	missense variant	-	NC_000009.12:g.136475137G>A	gnomAD
rs1156995742	p.Leu829Trp	missense variant	-	NC_000009.12:g.136475130A>C	gnomAD
rs780409880	p.Leu829Val	missense variant	-	NC_000009.12:g.136475131A>C	ExAC,gnomAD
rs374758597	p.Pro833Leu	missense variant	-	NC_000009.12:g.136475118G>A	TOPMed
rs750517376	p.His835Tyr	missense variant	-	NC_000009.12:g.136475113G>A	ExAC,TOPMed,gnomAD
rs750517376	p.His835Asp	missense variant	-	NC_000009.12:g.136475113G>C	ExAC,TOPMed,gnomAD
rs767436508	p.Ser836Gly	missense variant	-	NC_000009.12:g.136475110T>C	ExAC,TOPMed,gnomAD
rs762967801	p.Ser836Thr	missense variant	-	NC_000009.12:g.136475109C>G	ExAC,TOPMed,gnomAD
rs762967801	p.Ser836Asn	missense variant	-	NC_000009.12:g.136475109C>T	ExAC,TOPMed,gnomAD
rs1260226284	p.Asn838Ile	missense variant	-	NC_000009.12:g.136475103T>A	gnomAD
rs1344309746	p.Asn838Asp	missense variant	-	NC_000009.12:g.136475104T>C	TOPMed
rs752548807	p.Ala840Thr	missense variant	-	NC_000009.12:g.136475098C>T	ExAC,gnomAD
NCI-TCGA novel	p.Gln841Pro	missense variant	-	NC_000009.12:g.136475094T>G	NCI-TCGA
rs1397737503	p.Pro842Arg	missense variant	-	NC_000009.12:g.136475091G>C	TOPMed
rs989792670	p.Asn844His	missense variant	-	NC_000009.12:g.136475086T>G	TOPMed,gnomAD
NCI-TCGA novel	p.Phe845Leu	missense variant	-	NC_000009.12:g.136475083A>G	NCI-TCGA
rs759317094	p.Phe845Ser	missense variant	-	NC_000009.12:g.136475082A>G	ExAC,gnomAD
rs759317094	p.Phe845Cys	missense variant	-	NC_000009.12:g.136475082A>C	ExAC,gnomAD
rs1234582467	p.Ser846Ala	missense variant	-	NC_000009.12:g.136475080A>C	gnomAD
rs1222901653	p.Val847Met	missense variant	-	NC_000009.12:g.136475077C>T	gnomAD
rs201440860	p.Ser848Pro	missense variant	-	NC_000009.12:g.136475074A>G	ESP,ExAC,TOPMed,gnomAD
rs1311395493	p.Ser848Cys	missense variant	-	NC_000009.12:g.136475073G>C	gnomAD
rs370661510	p.Ser850Pro	missense variant	-	NC_000009.12:g.136475068A>G	ESP,ExAC,TOPMed,gnomAD
rs1289205763	p.Ser850Trp	missense variant	-	NC_000009.12:g.136475067G>C	TOPMed,gnomAD
rs1289205763	p.Ser850Leu	missense variant	-	NC_000009.12:g.136475067G>A	TOPMed,gnomAD
rs1289205763	p.Ser850Leu	missense variant	-	NC_000009.12:g.136475067G>A	NCI-TCGA Cosmic
rs771445332	p.Ser852Cys	missense variant	-	NC_000009.12:g.136475061G>C	ExAC,TOPMed,gnomAD
rs779264673	p.His853Tyr	missense variant	-	NC_000009.12:g.136475059G>A	ExAC,TOPMed,gnomAD
rs1461903410	p.His853Arg	missense variant	-	NC_000009.12:g.136475058T>C	gnomAD
rs779264673	p.His853Asn	missense variant	-	NC_000009.12:g.136475059G>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys855Asn	missense variant	-	NC_000009.12:g.136475051C>A	NCI-TCGA
rs1369059278	p.Lys855Arg	missense variant	-	NC_000009.12:g.136475052T>C	TOPMed,gnomAD
rs769199760	p.Ser858Phe	missense variant	-	NC_000009.12:g.136475043G>A	ExAC,TOPMed,gnomAD
rs769199760	p.Ser858Cys	missense variant	-	NC_000009.12:g.136475043G>C	ExAC,TOPMed,gnomAD
rs1422230417	p.Glu861Gly	missense variant	-	NC_000009.12:g.136475034T>C	gnomAD
NCI-TCGA novel	p.Glu861Val	missense variant	-	NC_000009.12:g.136475034T>A	NCI-TCGA
rs1397749665	p.Pro868Leu	missense variant	-	NC_000009.12:g.136475013G>A	TOPMed,gnomAD
rs1471119320	p.Ala869Ser	missense variant	-	NC_000009.12:g.136475011C>A	TOPMed
rs762701587	p.Ala869Val	missense variant	-	NC_000009.12:g.136475010G>A	gnomAD
rs1216026874	p.Ser871Asn	missense variant	-	NC_000009.12:g.136475004C>T	gnomAD
rs377592558	p.Ser872Arg	missense variant	-	NC_000009.12:g.136475002T>G	ESP,ExAC,TOPMed,gnomAD
rs1264301687	p.Ser872Thr	missense variant	-	NC_000009.12:g.136475001C>G	gnomAD
rs1242045085	p.Ala874Val	missense variant	-	NC_000009.12:g.136474995G>A	TOPMed,gnomAD
rs1242045085	p.Ala874Asp	missense variant	-	NC_000009.12:g.136474995G>T	TOPMed,gnomAD
rs756415898	p.Leu875Ile	missense variant	-	NC_000009.12:g.136474993G>T	ExAC,gnomAD
rs373187238	p.Gly876Ser	missense variant	-	NC_000009.12:g.136474990C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs373187238	p.Gly876Cys	missense variant	-	NC_000009.12:g.136474990C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM1489816	p.Asp878Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136474984C>T	NCI-TCGA Cosmic
rs1333916163	p.Asp878Gly	missense variant	-	NC_000009.12:g.136474983T>C	TOPMed
rs1441493574	p.Ser879Tyr	missense variant	-	NC_000009.12:g.136474980G>T	TOPMed,gnomAD
rs1389948188	p.SerGlyGlu879Ter	stop gained	-	NC_000009.12:g.136474975_136474980del	gnomAD
rs754844410	p.Glu881Asp	missense variant	-	NC_000009.12:g.136474973C>G	ExAC,TOPMed,gnomAD
rs1445008267	p.Glu881Lys	missense variant	-	NC_000009.12:g.136474975C>T	TOPMed
rs1456516936	p.Asn882Lys	missense variant	-	NC_000009.12:g.136474970G>T	TOPMed,gnomAD
rs1356484105	p.Thr883Ala	missense variant	-	NC_000009.12:g.136474969T>C	gnomAD
rs1169404613	p.Ser884Tyr	missense variant	-	NC_000009.12:g.136474965G>T	gnomAD
rs1169404613	p.Ser884Cys	missense variant	-	NC_000009.12:g.136474965G>C	gnomAD
NCI-TCGA novel	p.Ser886GlyPheSerTerUnkUnk	frameshift	-	NC_000009.12:g.136474957_136474960CAGA>-	NCI-TCGA
rs200238338	p.Gly887Glu	missense variant	-	NC_000009.12:g.136474956C>T	ESP,ExAC,TOPMed,gnomAD
rs772707536	p.Pro889Ser	missense variant	-	NC_000009.12:g.136474951G>A	ExAC,gnomAD
rs1348828710	p.Pro889Leu	missense variant	-	NC_000009.12:g.136474950G>A	TOPMed
rs577515946	p.Thr890Ala	missense variant	-	NC_000009.12:g.136474948T>C	ExAC,TOPMed,gnomAD
rs774989264	p.Val893Ile	missense variant	-	NC_000009.12:g.136474939C>T	ExAC,gnomAD
rs117836955	p.Ser895Gly	missense variant	-	NC_000009.12:g.136474933T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1182449706	p.Pro899Leu	missense variant	-	NC_000009.12:g.136474920G>A	TOPMed
rs770240738	p.Pro899Ser	missense variant	-	NC_000009.12:g.136474921G>A	ExAC,gnomAD
rs1437302809	p.Ser900Arg	missense variant	-	NC_000009.12:g.136474916G>T	TOPMed
rs746152731	p.Ser900Gly	missense variant	-	NC_000009.12:g.136474918T>C	ExAC,TOPMed,gnomAD
rs781261154	p.Ser901Arg	missense variant	-	NC_000009.12:g.136474913A>C	ExAC,gnomAD
COSM487228	p.Ser901Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136474915T>A	NCI-TCGA Cosmic
rs892241296	p.Ser901Asn	missense variant	-	NC_000009.12:g.136474914C>T	TOPMed
rs894760948	p.Asn906His	missense variant	-	NC_000009.12:g.136474900T>G	gnomAD
rs747067371	p.Gly910Asp	missense variant	-	NC_000009.12:g.136474887C>T	ExAC,gnomAD
rs1056585021	p.Gly912Ala	missense variant	-	NC_000009.12:g.136474881C>G	TOPMed
rs939205030	p.Ala913Thr	missense variant	-	NC_000009.12:g.136474879C>T	TOPMed
rs376549395	p.Glu915Lys	missense variant	-	NC_000009.12:g.136474873C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs376549395	p.Glu915Lys	missense variant	-	NC_000009.12:g.136474873C>T	NCI-TCGA,NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu915Asp	missense variant	-	NC_000009.12:g.136474871T>G	NCI-TCGA
rs1330168071	p.Met916Val	missense variant	-	NC_000009.12:g.136474870T>C	TOPMed
rs753735507	p.Met916Ile	missense variant	-	NC_000009.12:g.136474868C>G	ExAC,TOPMed,gnomAD
rs766204125	p.Asn919Ser	missense variant	-	NC_000009.12:g.136474860T>C	ExAC,gnomAD
rs1197301533	p.Ala922Gly	missense variant	-	NC_000009.12:g.136474851G>C	TOPMed,gnomAD
rs1197301533	p.Ala922Val	missense variant	-	NC_000009.12:g.136474851G>A	TOPMed,gnomAD
rs1421399520	p.Asn923Ser	missense variant	-	NC_000009.12:g.136474848T>C	TOPMed,gnomAD
rs1421399520	p.Asn923Thr	missense variant	-	NC_000009.12:g.136474848T>G	TOPMed,gnomAD
rs1191811852	p.Asn923Tyr	missense variant	-	NC_000009.12:g.136474849T>A	gnomAD
rs750146521	p.Leu925Pro	missense variant	-	NC_000009.12:g.136474842A>G	ExAC,gnomAD
rs767071000	p.Val926Ile	missense variant	-	NC_000009.12:g.136474840C>T	ExAC,TOPMed,gnomAD
rs1259266759	p.Gln927Ter	stop gained	-	NC_000009.12:g.136474837G>A	TOPMed,gnomAD
rs1259266759	p.Gln927Glu	missense variant	-	NC_000009.12:g.136474837G>C	TOPMed,gnomAD
rs117160782	p.Pro929Leu	missense variant	-	NC_000009.12:g.136474830G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1254037378	p.Ser930Pro	missense variant	-	NC_000009.12:g.136474828A>G	gnomAD
rs1257398987	p.Gln931Ter	stop gained	-	NC_000009.12:g.136474825G>A	TOPMed
rs1264188523	p.Pro932Arg	missense variant	-	NC_000009.12:g.136474821G>C	TOPMed,gnomAD
rs202234045	p.Val933Ile	missense variant	-	NC_000009.12:g.136474819C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1253097262	p.Val933Ala	missense variant	-	NC_000009.12:g.136474818A>G	TOPMed
rs1432023567	p.Pro934Arg	missense variant	-	NC_000009.12:g.136474815G>C	TOPMed
rs369182790	p.Pro934Ala	missense variant	-	NC_000009.12:g.136474816G>C	ESP,ExAC,gnomAD
rs1409334084	p.Glu935Asp	missense variant	-	NC_000009.12:g.136474811C>G	gnomAD
COSM1489814	p.Glu935Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136474813C>G	NCI-TCGA Cosmic
COSM1137972	p.Glu935Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136474812T>C	NCI-TCGA Cosmic
COSM1106827	p.Glu935Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136474811C>A	NCI-TCGA Cosmic
rs1336462233	p.Val938Ala	missense variant	-	NC_000009.12:g.136474803A>G	gnomAD
COSM3655753	p.Pro939Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136474801G>A	NCI-TCGA Cosmic
rs746218746	p.Gln942Arg	missense variant	-	NC_000009.12:g.136474791T>C	ExAC,gnomAD
rs758443281	p.Arg945Leu	missense variant	-	NC_000009.12:g.136474782C>A	ExAC,TOPMed,gnomAD
rs751066212	p.Arg945Cys	missense variant	-	NC_000009.12:g.136474783G>A	ExAC,TOPMed,gnomAD
rs758443281	p.Arg945His	missense variant	-	NC_000009.12:g.136474782C>T	ExAC,TOPMed,gnomAD
rs758443281	p.Arg945His	missense variant	-	NC_000009.12:g.136474782C>T	NCI-TCGA,NCI-TCGA Cosmic
COSM284853	p.Ala947Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136474777C>T	NCI-TCGA Cosmic
rs987921893	p.Ala947Val	missense variant	-	NC_000009.12:g.136474776G>A	TOPMed,gnomAD
rs749271130	p.Gly948Arg	missense variant	-	NC_000009.12:g.136474774C>T	ExAC,TOPMed,gnomAD
rs779952970	p.Gly948Glu	missense variant	-	NC_000009.12:g.136474773C>T	ExAC,gnomAD
rs756003204	p.Ser949Thr	missense variant	-	NC_000009.12:g.136474770C>G	ExAC,gnomAD
NCI-TCGA novel	p.Ala950Asp	missense variant	-	NC_000009.12:g.136474767G>T	NCI-TCGA
rs542716513	p.Leu951Phe	missense variant	-	NC_000009.12:g.136474765G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs756878436	p.Pro952Leu	missense variant	-	NC_000009.12:g.136474761G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro952Ser	missense variant	-	NC_000009.12:g.136474762G>A	NCI-TCGA
rs780979016	p.Pro952Ala	missense variant	-	NC_000009.12:g.136474762G>C	ExAC
rs763734645	p.Gly953Arg	missense variant	-	NC_000009.12:g.136474759C>T	ExAC,TOPMed,gnomAD
rs763734645	p.Gly953Arg	missense variant	-	NC_000009.12:g.136474759C>T	NCI-TCGA,NCI-TCGA Cosmic
rs1277329349	p.Phe954Ser	missense variant	-	NC_000009.12:g.136474755A>G	TOPMed
rs1227846105	p.Asn956Asp	missense variant	-	NC_000009.12:g.136474750T>C	gnomAD
rs538446092	p.Ser957Ile	missense variant	-	NC_000009.12:g.136474746C>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro958LeuPheSerTerUnk	frameshift	-	NC_000009.12:g.136474743G>-	NCI-TCGA
rs375741753	p.Ser961Thr	missense variant	-	NC_000009.12:g.136474734C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM3699283	p.Ser961Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136474734C>T	NCI-TCGA Cosmic
rs760034925	p.Val964Met	missense variant	-	NC_000009.12:g.136474726C>T	ExAC,gnomAD
rs760929453	p.Pro969Leu	missense variant	-	NC_000009.12:g.136474710G>A	ExAC,TOPMed,gnomAD
rs760929453	p.Pro969Arg	missense variant	-	NC_000009.12:g.136474710G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro969Thr	missense variant	-	NC_000009.12:g.136474711G>T	NCI-TCGA
rs1472248676	p.His971Pro	missense variant	-	NC_000009.12:g.136474704T>G	gnomAD
rs1163358193	p.His971Tyr	missense variant	-	NC_000009.12:g.136474705G>A	gnomAD
rs1168300165	p.Gly972Ser	missense variant	-	NC_000009.12:g.136474702C>T	gnomAD
rs372112362	p.Val975Gly	missense variant	-	NC_000009.12:g.136474692A>C	ESP,ExAC,TOPMed,gnomAD
rs765140740	p.Asp977His	missense variant	-	NC_000009.12:g.136474687C>G	ExAC,TOPMed,gnomAD
rs765140740	p.Asp977Tyr	missense variant	-	NC_000009.12:g.136474687C>A	ExAC,TOPMed,gnomAD
COSM3905721	p.Asn979Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136474680T>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala981Val	missense variant	-	NC_000009.12:g.136474674G>A	NCI-TCGA
rs745766088	p.His983Tyr	missense variant	-	NC_000009.12:g.136474669G>A	ExAC,gnomAD
rs1355866586	p.His983Arg	missense variant	-	NC_000009.12:g.136474668T>C	gnomAD
rs1291829869	p.Ser985Arg	missense variant	-	NC_000009.12:g.136474663T>G	TOPMed
rs1230908211	p.Ser985Arg	missense variant	-	NC_000009.12:g.136474661A>T	gnomAD
rs1387503484	p.Ser985Asn	missense variant	-	NC_000009.12:g.136474662C>T	TOPMed
rs780878318	p.Glu988Lys	missense variant	-	NC_000009.12:g.136474654C>T	ExAC,gnomAD
rs1382979627	p.Thr990Ala	missense variant	-	NC_000009.12:g.136474648T>C	TOPMed
rs757043076	p.Thr990Ile	missense variant	-	NC_000009.12:g.136474647G>A	ExAC,gnomAD
rs1382979627	p.Thr990Ala	missense variant	-	NC_000009.12:g.136474648T>C	NCI-TCGA Cosmic
rs1177128865	p.Tyr991Cys	missense variant	-	NC_000009.12:g.136474644T>C	TOPMed,gnomAD
rs771998195	p.Tyr991Ter	stop gained	-	NC_000009.12:g.136474644dup	ExAC
rs781756872	p.Tyr991Ter	stop gained	-	NC_000009.12:g.136474643G>C	ExAC,TOPMed
rs758060948	p.Gly992Arg	missense variant	-	NC_000009.12:g.136474642C>T	ExAC,gnomAD
COSM284851	p.Gly992Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136474641C>T	NCI-TCGA Cosmic
rs758060948	p.Gly992Arg	missense variant	-	NC_000009.12:g.136474642C>T	NCI-TCGA
rs11788702	p.Ala993Thr	missense variant	-	NC_000009.12:g.136474639C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs73670288	p.Thr997Ala	missense variant	-	NC_000009.12:g.136474627T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1261956148	p.Thr997Ile	missense variant	-	NC_000009.12:g.136474626G>A	TOPMed
rs148167113	p.Thr1001Ile	missense variant	-	NC_000009.12:g.136474614G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1388120036	p.Thr1001Ala	missense variant	-	NC_000009.12:g.136474615T>C	gnomAD
rs377422446	p.Leu1002Ser	missense variant	-	NC_000009.12:g.136474611A>G	ESP,ExAC,gnomAD
rs1478954142	p.Pro1005His	missense variant	-	NC_000009.12:g.136474602G>T	gnomAD
rs773489331	p.Pro1005Ser	missense variant	-	NC_000009.12:g.136474603G>A	ExAC,gnomAD
NCI-TCGA novel	p.Asn1007Asp	missense variant	-	NC_000009.12:g.136474597T>C	NCI-TCGA
rs551893808	p.Val1008Met	missense variant	-	NC_000009.12:g.136474594C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1190488001	p.Val1008Ala	missense variant	-	NC_000009.12:g.136474593A>G	TOPMed
rs551893808	p.Val1008Met	missense variant	-	NC_000009.12:g.136474594C>T	NCI-TCGA,NCI-TCGA Cosmic
rs1451053188	p.Tyr1009Cys	missense variant	-	NC_000009.12:g.136474590T>C	gnomAD
rs774312401	p.Asn1010Ser	missense variant	-	NC_000009.12:g.136474587T>C	ExAC,gnomAD
rs774312401	p.Asn1010Ser	missense variant	-	NC_000009.12:g.136474587T>C	NCI-TCGA
rs768738608	p.Pro1011Ser	missense variant	-	NC_000009.12:g.136474585G>A	ExAC,TOPMed,gnomAD
rs533340734	p.Pro1011Leu	missense variant	-	NC_000009.12:g.136474584G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs768738608	p.Pro1011Thr	missense variant	-	NC_000009.12:g.136474585G>T	ExAC,TOPMed,gnomAD
rs770919206	p.Ser1012Tyr	missense variant	-	NC_000009.12:g.136474581G>T	ExAC,TOPMed
rs770919206	p.Ser1012Phe	missense variant	-	NC_000009.12:g.136474581G>A	ExAC,TOPMed
rs746808121	p.Asp1015Gly	missense variant	-	NC_000009.12:g.136474572T>C	ExAC,gnomAD
rs1328782193	p.Ser1016Asn	missense variant	-	NC_000009.12:g.136474569C>T	gnomAD
rs181499163	p.Ala1018Thr	missense variant	-	NC_000009.12:g.136474564C>T	1000Genomes,ExAC,gnomAD
rs536379281	p.Ala1018Val	missense variant	-	NC_000009.12:g.136474563G>A	gnomAD
rs181499163	p.Ala1018Thr	missense variant	-	NC_000009.12:g.136474564C>T	NCI-TCGA
rs529633538	p.Ser1019Cys	missense variant	-	NC_000009.12:g.136474560G>C	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln1020Ter	stop gained	-	NC_000009.12:g.136474558G>A	NCI-TCGA
rs377041553	p.Gln1021Arg	missense variant	-	NC_000009.12:g.136474554T>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln1021Arg	inframe deletion	-	NC_000009.12:g.136474552_136474554TTT>-	NCI-TCGA
rs73670287	p.Ser1022Arg	missense variant	-	NC_000009.12:g.136474550A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs369678976	p.Ala1024Val	missense variant	-	NC_000009.12:g.136474545G>A	ESP,ExAC,TOPMed,gnomAD
rs369678976	p.Ala1024Asp	missense variant	-	NC_000009.12:g.136474545G>T	ESP,ExAC,TOPMed,gnomAD
rs1184505577	p.Ser1025Gly	missense variant	-	NC_000009.12:g.136474543T>C	gnomAD
NCI-TCGA novel	p.Ser1025Asn	missense variant	-	NC_000009.12:g.136474542C>T	NCI-TCGA
rs1317025208	p.His1026Arg	missense variant	-	NC_000009.12:g.136474539T>C	TOPMed
rs375839951	p.Pro1027Leu	missense variant	-	NC_000009.12:g.136474536G>A	ESP,ExAC,TOPMed,gnomAD
rs375839951	p.Pro1027His	missense variant	-	NC_000009.12:g.136474536G>T	ESP,ExAC,TOPMed,gnomAD
rs1203440099	p.Ser1030Ala	missense variant	-	NC_000009.12:g.136474528A>C	gnomAD
NCI-TCGA novel	p.Ser1030Cys	missense variant	-	NC_000009.12:g.136474527G>C	NCI-TCGA
rs1314253144	p.Pro1032Thr	missense variant	-	NC_000009.12:g.136474522G>T	gnomAD
rs1279787355	p.Gly1033Glu	missense variant	-	NC_000009.12:g.136474518C>T	gnomAD
rs375912726	p.Ala1034Val	missense variant	-	NC_000009.12:g.136474515G>A	ESP,ExAC,TOPMed,gnomAD
rs956436315	p.Pro1035Leu	missense variant	-	NC_000009.12:g.136474512G>A	TOPMed
rs763086465	p.Asn1036Asp	missense variant	-	NC_000009.12:g.136474510T>C	ExAC,gnomAD
rs1305856272	p.Leu1037Ile	missense variant	-	NC_000009.12:g.136474507G>T	TOPMed,gnomAD
COSM5094211	p.Leu1037Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136474506A>G	NCI-TCGA Cosmic
COSM1489812	p.Asp1038His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136474504C>G	NCI-TCGA Cosmic
rs371501249	p.Asp1038Asn	missense variant	-	NC_000009.12:g.136474504C>T	ESP,ExAC,TOPMed,gnomAD
rs1440450850	p.Asp1038Glu	missense variant	-	NC_000009.12:g.136474502G>T	TOPMed
rs3812594	p.Arg1039Ser	missense variant	-	NC_000009.12:g.136474501G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs746894213	p.Arg1039His	missense variant	-	NC_000009.12:g.136474500C>T	ExAC,gnomAD
rs3812594	p.Arg1039Cys	missense variant	-	NC_000009.12:g.136474501G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1412668784	p.Phe1040Ser	missense variant	-	NC_000009.12:g.136474497A>G	gnomAD
rs1414144467	p.Tyr1041Cys	missense variant	-	NC_000009.12:g.136474494T>C	gnomAD
rs1161458497	p.Gln1043His	missense variant	-	NC_000009.12:g.136474487C>A	gnomAD
rs1436799042	p.Gln1043Pro	missense variant	-	NC_000009.12:g.136474488T>G	TOPMed
NCI-TCGA novel	p.Gln1043Arg	missense variant	-	NC_000009.12:g.136474488T>C	NCI-TCGA
rs991875908	p.Val1044Leu	missense variant	-	NC_000009.12:g.136474486C>G	TOPMed,gnomAD
COSM3905717	p.Val1044Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136474485A>G	NCI-TCGA Cosmic
rs991875908	p.Val1044Ile	missense variant	-	NC_000009.12:g.136474486C>T	TOPMed,gnomAD
rs771965714	p.Thr1045Met	missense variant	-	NC_000009.12:g.136474482G>A	ExAC,TOPMed,gnomAD
rs771965714	p.Thr1045Lys	missense variant	-	NC_000009.12:g.136474482G>T	ExAC,TOPMed,gnomAD
rs1484376932	p.Lys1046Arg	missense variant	-	NC_000009.12:g.136474479T>C	gnomAD
rs376001506	p.Ala1048Val	missense variant	-	NC_000009.12:g.136474473G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1209917792	p.Ala1048Thr	missense variant	-	NC_000009.12:g.136474474C>T	gnomAD
rs1209917792	p.Ala1048Ser	missense variant	-	NC_000009.12:g.136474474C>A	gnomAD
rs748832328	p.Gln1049His	missense variant	-	NC_000009.12:g.136474469C>A	ExAC,gnomAD
rs779370862	p.Gly1050Asp	missense variant	-	NC_000009.12:g.136474467C>T	ExAC,gnomAD
rs1372801544	p.Gln1051His	missense variant	-	NC_000009.12:g.136474463C>G	TOPMed
rs1234590500	p.Pro1052Ala	missense variant	-	NC_000009.12:g.136474462G>C	TOPMed
rs553149111	p.Glu1055Gln	missense variant	-	NC_000009.12:g.136474453C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1382700647	p.Glu1055Gly	missense variant	-	NC_000009.12:g.136474452T>C	gnomAD
rs553149111	p.Glu1055Lys	missense variant	-	NC_000009.12:g.136474453C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1379507605	p.Arg1056Gly	missense variant	-	NC_000009.12:g.136474450T>C	gnomAD
rs1302012779	p.Ala1057Val	missense variant	-	NC_000009.12:g.136474446G>A	gnomAD
rs898965484	p.Gln1058Arg	missense variant	-	NC_000009.12:g.136474443T>C	TOPMed,gnomAD
rs1456647638	p.Gln1059Arg	missense variant	-	NC_000009.12:g.136474440T>C	gnomAD
rs751785608	p.Gln1059Glu	missense variant	-	NC_000009.12:g.136474441G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln1059His	missense variant	-	NC_000009.12:g.136474439C>A	NCI-TCGA
rs751785608	p.Gln1059Ter	stop gained	-	NC_000009.12:g.136474441G>A	ExAC,TOPMed,gnomAD
rs1236446878	p.Leu1061Met	missense variant	-	NC_000009.12:g.136474435G>T	TOPMed
rs7022785	p.Val1062Ala	missense variant	-	NC_000009.12:g.136474431A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs764383514	p.Val1062Met	missense variant	-	NC_000009.12:g.136474432C>T	ExAC,TOPMed,gnomAD
rs764383514	p.Val1062Leu	missense variant	-	NC_000009.12:g.136474432C>A	ExAC,TOPMed,gnomAD
rs1414845746	p.Pro1063Leu	missense variant	-	NC_000009.12:g.136474428G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Pro1063Ser	missense variant	-	NC_000009.12:g.136474429G>A	NCI-TCGA
rs368300787	p.Pro1064Ser	missense variant	-	NC_000009.12:g.136474426G>A	ESP,ExAC,gnomAD
rs368300787	p.Pro1064Ala	missense variant	-	NC_000009.12:g.136474426G>C	ESP,ExAC,gnomAD
rs760738636	p.Gln1067Arg	missense variant	-	NC_000009.12:g.136474416T>C	ExAC,TOPMed,gnomAD
rs772053581	p.Ala1068Val	missense variant	-	NC_000009.12:g.136474413G>A	ExAC,gnomAD
rs748839439	p.Pro1071Arg	missense variant	-	NC_000009.12:g.136474404G>C	ExAC,TOPMed,gnomAD
rs748839439	p.Pro1071Leu	missense variant	-	NC_000009.12:g.136474404G>A	ExAC,TOPMed,gnomAD
rs748839439	p.Pro1071Gln	missense variant	-	NC_000009.12:g.136474404G>T	ExAC,TOPMed,gnomAD
rs769263304	p.Gln1072Pro	missense variant	-	NC_000009.12:g.136474401T>G	ExAC,gnomAD
rs1052182766	p.Pro1074Ser	missense variant	-	NC_000009.12:g.136474396G>A	TOPMed
rs781654133	p.Lys1075Thr	missense variant	-	NC_000009.12:g.136474392T>G	ExAC,gnomAD
rs757640396	p.Met1077Leu	missense variant	-	NC_000009.12:g.136474387T>G	ExAC,gnomAD
rs757640396	p.Met1077Val	missense variant	-	NC_000009.12:g.136474387T>C	ExAC,gnomAD
COSM1106825	p.Phe1078Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136474384A>G	NCI-TCGA Cosmic
rs751969115	p.Ser1079Leu	missense variant	-	NC_000009.12:g.136474380G>A	ExAC,TOPMed,gnomAD
rs1482084211	p.Glu1080Gly	missense variant	-	NC_000009.12:g.136474377T>C	gnomAD
rs758678274	p.Asn1083Ser	missense variant	-	NC_000009.12:g.136474368T>C	ExAC,gnomAD
rs1279225560	p.Glu1085Lys	missense variant	-	NC_000009.12:g.136474363C>T	gnomAD
rs1240205210	p.Glu1085Val	missense variant	-	NC_000009.12:g.136474362T>A	gnomAD
rs1280474720	p.Ser1086Asn	missense variant	-	NC_000009.12:g.136474359C>T	TOPMed
rs1164273348	p.Pro1088Ser	missense variant	-	NC_000009.12:g.136474354G>A	gnomAD
rs537040519	p.Ala1089Ser	missense variant	-	NC_000009.12:g.136474351C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs537040519	p.Ala1089Thr	missense variant	-	NC_000009.12:g.136474351C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs201172869	p.Ala1089Val	missense variant	-	NC_000009.12:g.136474350G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs762707671	p.Gln1090Arg	missense variant	-	NC_000009.12:g.136474347T>C	ExAC,TOPMed,gnomAD
rs1192420124	p.Gly1091Arg	missense variant	-	NC_000009.12:g.136474345C>T	gnomAD
rs1488490593	p.Gly1091Glu	missense variant	-	NC_000009.12:g.136474344C>T	gnomAD
rs989094715	p.Ala1093Gly	missense variant	-	NC_000009.12:g.136474338G>C	TOPMed,gnomAD
rs769349554	p.Ala1093Pro	missense variant	-	NC_000009.12:g.136474339C>G	ExAC,gnomAD
rs1275055325	p.Gln1094Arg	missense variant	-	NC_000009.12:g.136474335T>C	gnomAD
rs551567130	p.Asn1095Ser	missense variant	-	NC_000009.12:g.136474332T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs780625887	p.Asn1095Lys	missense variant	-	NC_000009.12:g.136474331G>C	ExAC,gnomAD
rs1303394437	p.Ser1096Pro	missense variant	-	NC_000009.12:g.136474330A>G	TOPMed,gnomAD
rs1303394437	p.Ser1096Ala	missense variant	-	NC_000009.12:g.136474330A>C	TOPMed,gnomAD
rs771492994	p.Ala1097Val	missense variant	-	NC_000009.12:g.136474326G>A	ExAC,gnomAD
rs1340803947	p.Gln1098Leu	missense variant	-	NC_000009.12:g.136474323T>A	TOPMed,gnomAD
rs1293041696	p.Pro1100Leu	missense variant	-	NC_000009.12:g.136474317G>A	gnomAD
rs747435143	p.Ala1101Thr	missense variant	-	NC_000009.12:g.136474315C>T	ExAC
rs778240795	p.Ser1102Ile	missense variant	-	NC_000009.12:g.136474311C>A	ExAC,gnomAD
rs1168472697	p.Leu1103Val	missense variant	-	NC_000009.12:g.136474309G>C	TOPMed
rs1169618868	p.Val1104Ile	missense variant	-	NC_000009.12:g.136474306C>T	TOPMed,gnomAD
rs758672511	p.Val1104Ala	missense variant	-	NC_000009.12:g.136474305A>G	ExAC,gnomAD
rs1434286402	p.Asp1107Asn	missense variant	-	NC_000009.12:g.136474297C>T	TOPMed,gnomAD
rs781014862	p.Ala1108Val	missense variant	-	NC_000009.12:g.136474293G>A	TOPMed,gnomAD
rs753978395	p.Ala1108Thr	missense variant	-	NC_000009.12:g.136474294C>T	ExAC,TOPMed,gnomAD
rs368144823	p.Gln1111His	missense variant	-	NC_000009.12:g.136474283C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs368144823	p.Gln1111His	missense variant	-	NC_000009.12:g.136474283C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs374280849	p.Pro1114Arg	missense variant	-	NC_000009.12:g.136474275G>C	ESP,ExAC,TOPMed,gnomAD
rs374280849	p.Pro1114Leu	missense variant	-	NC_000009.12:g.136474275G>A	ESP,ExAC,TOPMed,gnomAD
rs1233831098	p.Arg1115Gln	missense variant	-	NC_000009.12:g.136474272C>T	gnomAD
rs1233831098	p.Arg1115Pro	missense variant	-	NC_000009.12:g.136474272C>G	gnomAD
rs370328979	p.Arg1115Trp	missense variant	-	NC_000009.12:g.136474273G>A	ESP,ExAC,TOPMed,gnomAD
rs143795416	p.Pro1116Leu	missense variant	-	NC_000009.12:g.136474269G>A	1000Genomes,ExAC,gnomAD
rs529570854	p.Pro1116Ser	missense variant	-	NC_000009.12:g.136474270G>A	1000Genomes,gnomAD
rs1221834910	p.Pro1117Leu	missense variant	-	NC_000009.12:g.136474266G>A	gnomAD
rs1487866749	p.Gln1118Pro	missense variant	-	NC_000009.12:g.136474263T>G	TOPMed
rs1352549523	p.Gln1118Lys	missense variant	-	NC_000009.12:g.136474264G>T	TOPMed,gnomAD
rs1352549523	p.Gln1118Lys	missense variant	-	NC_000009.12:g.136474264G>T	NCI-TCGA Cosmic
rs1352549523	p.Gln1118Glu	missense variant	-	NC_000009.12:g.136474264G>C	TOPMed,gnomAD
rs1352549523	p.Gln1118Ter	stop gained	-	NC_000009.12:g.136474264G>A	TOPMed,gnomAD
rs1308808114	p.Ser1119Cys	missense variant	-	NC_000009.12:g.136474260G>C	gnomAD
rs1391047580	p.Ser1120Phe	missense variant	-	NC_000009.12:g.136474257G>A	gnomAD
rs1420371935	p.Ser1121Ile	missense variant	-	NC_000009.12:g.136474254C>A	TOPMed,gnomAD
rs775189091	p.Ser1121Arg	missense variant	-	NC_000009.12:g.136474253G>C	ExAC,TOPMed,gnomAD
COSM6115380	p.Ser1121Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136474255T>C	NCI-TCGA Cosmic
rs759141167	p.Val1122Met	missense variant	-	NC_000009.12:g.136474252C>T	ExAC,TOPMed,gnomAD
rs759141167	p.Val1122Leu	missense variant	-	NC_000009.12:g.136474252C>A	ExAC,TOPMed,gnomAD
rs776150371	p.Ser1123Cys	missense variant	-	NC_000009.12:g.136474248G>C	ExAC,TOPMed,gnomAD
rs776150371	p.Ser1123Phe	missense variant	-	NC_000009.12:g.136474248G>A	ExAC,TOPMed,gnomAD
rs770317063	p.Ser1126Tyr	missense variant	-	NC_000009.12:g.136474239G>T	ExAC,TOPMed,gnomAD
rs1173624450	p.Ser1129Pro	missense variant	-	NC_000009.12:g.136474231A>G	gnomAD
rs1473317605	p.Ser1129Phe	missense variant	-	NC_000009.12:g.136474230G>A	TOPMed,gnomAD
rs530404988	p.Gly1130Ser	missense variant	-	NC_000009.12:g.136474228C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1435748869	p.Gln1131Arg	missense variant	-	NC_000009.12:g.136474224T>C	gnomAD
NCI-TCGA novel	p.Ala1132Thr	missense variant	-	NC_000009.12:g.136474222C>T	NCI-TCGA
rs1200866105	p.Ala1132Glu	missense variant	-	NC_000009.12:g.136474221G>T	gnomAD
rs1399826848	p.Ala1133Gly	missense variant	-	NC_000009.12:g.136474218G>C	TOPMed
rs1482884068	p.Pro1135Leu	missense variant	-	NC_000009.12:g.136474212G>A	TOPMed,gnomAD
rs779359603	p.Gln1138His	missense variant	-	NC_000009.12:g.136474202C>G	ExAC,gnomAD
rs1289103831	p.Pro1139Ser	missense variant	-	NC_000009.12:g.136474201G>A	TOPMed,gnomAD
rs374605188	p.Pro1139Leu	missense variant	-	NC_000009.12:g.136474200G>A	ESP,ExAC,TOPMed,gnomAD
COSM1106823	p.Pro1141Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136474195G>A	NCI-TCGA Cosmic
rs1315233280	p.Gln1142Arg	missense variant	-	NC_000009.12:g.136474191T>C	gnomAD
rs1397040426	p.Pro1143Leu	missense variant	-	NC_000009.12:g.136474188G>A	gnomAD
rs1335246859	p.Val1144Leu	missense variant	-	NC_000009.12:g.136474186C>A	gnomAD
rs1388673928	p.Ala1146Ser	missense variant	-	NC_000009.12:g.136474180C>A	gnomAD
rs1388673928	p.Ala1146Thr	missense variant	-	NC_000009.12:g.136474180C>T	gnomAD
rs1353247741	p.Ala1146Val	missense variant	-	NC_000009.12:g.136474179G>A	TOPMed
rs563330827	p.Leu1147Pro	missense variant	-	NC_000009.12:g.136474176A>G	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Ala1148Val	missense variant	-	NC_000009.12:g.136474173G>A	NCI-TCGA
COSM3655751	p.Pro1149Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136474171G>A	NCI-TCGA Cosmic
rs752513068	p.Gly1150Val	missense variant	-	NC_000009.12:g.136474167C>A	ExAC,gnomAD
rs370629613	p.Gly1150Ser	missense variant	-	NC_000009.12:g.136474168C>T	ESP,ExAC,TOPMed,gnomAD
rs888908290	p.Pro1151Arg	missense variant	-	NC_000009.12:g.136474164G>C	gnomAD
rs888908290	p.Pro1151Leu	missense variant	-	NC_000009.12:g.136474164G>A	gnomAD
rs376257670	p.Pro1152Leu	missense variant	-	NC_000009.12:g.136474161G>A	ESP,ExAC,TOPMed,gnomAD
rs765975879	p.Asp1155Glu	missense variant	-	NC_000009.12:g.136474151G>C	ExAC,TOPMed,gnomAD
rs760103181	p.Leu1156Arg	missense variant	-	NC_000009.12:g.136474149A>C	ExAC,gnomAD
rs774884155	p.Ala1158Thr	missense variant	-	NC_000009.12:g.136474144C>T	ExAC,TOPMed,gnomAD
rs1313415407	p.Ala1158Val	missense variant	-	NC_000009.12:g.136474143G>A	gnomAD
NCI-TCGA novel	p.Tyr1159Ter	stop gained	-	NC_000009.12:g.136474139G>T	NCI-TCGA
rs749566583	p.Tyr1159Cys	missense variant	-	NC_000009.12:g.136474140T>C	ExAC,TOPMed,gnomAD
rs749566583	p.Tyr1159Phe	missense variant	-	NC_000009.12:g.136474140T>A	ExAC,TOPMed,gnomAD
rs756283646	p.Tyr1160Cys	missense variant	-	NC_000009.12:g.136474137T>C	ExAC,TOPMed,gnomAD
rs897721531	p.Tyr1160Asn	missense variant	-	NC_000009.12:g.136474138A>T	TOPMed,gnomAD
rs897721531	p.Tyr1160Asp	missense variant	-	NC_000009.12:g.136474138A>C	TOPMed,gnomAD
rs745937494	p.Tyr1162Cys	missense variant	-	NC_000009.12:g.136474131T>C	ExAC,gnomAD
rs777411322	p.Tyr1162His	missense variant	-	NC_000009.12:g.136474132A>G	gnomAD
rs199822604	p.Arg1163Gln	missense variant	-	NC_000009.12:g.136474128C>T	ExAC,TOPMed,gnomAD
rs542852627	p.Arg1163Trp	missense variant	-	NC_000009.12:g.136474129G>A	TOPMed,gnomAD
rs754758728	p.Asp1167His	missense variant	-	NC_000009.12:g.136474117C>G	ExAC,gnomAD
COSM1106821	p.Asp1167Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136474116T>C	NCI-TCGA Cosmic
rs754758728	p.Asp1167Asn	missense variant	-	NC_000009.12:g.136474117C>T	ExAC,gnomAD
rs753598591	p.Tyr1169Ser	missense variant	-	NC_000009.12:g.136474110T>G	ExAC,gnomAD
rs753598591	p.Tyr1169Cys	missense variant	-	NC_000009.12:g.136474110T>C	ExAC,gnomAD
rs369174584	p.Pro1171Ala	missense variant	-	NC_000009.12:g.136474105G>C	ESP,ExAC,TOPMed,gnomAD
rs1210618622	p.Pro1171Leu	missense variant	-	NC_000009.12:g.136474104G>A	gnomAD
rs760320898	p.Gln1172Arg	missense variant	-	NC_000009.12:g.136474101T>C	ExAC,TOPMed,gnomAD
rs749920787	p.Leu1175Ser	missense variant	-	NC_000009.12:g.136474092A>G	ExAC,gnomAD
rs1231162970	p.Pro1176Leu	missense variant	-	NC_000009.12:g.136474089G>A	gnomAD
rs762445817	p.Pro1178Ala	missense variant	-	NC_000009.12:g.136474084G>C	ExAC,gnomAD
rs774973782	p.Pro1179Leu	missense variant	-	NC_000009.12:g.136474080G>A	ExAC,gnomAD
rs1323675953	p.Glu1180Asp	missense variant	-	NC_000009.12:g.136474076C>A	TOPMed,gnomAD
rs769199830	p.Pro1181Ser	missense variant	-	NC_000009.12:g.136474075G>A	ExAC,TOPMed,gnomAD
rs775854652	p.Ala1183Thr	missense variant	-	NC_000009.12:g.136474069C>T	ExAC,TOPMed,gnomAD
rs775854652	p.Ala1183Thr	missense variant	-	NC_000009.12:g.136474069C>T	NCI-TCGA,NCI-TCGA Cosmic
rs746064192	p.Ser1185Cys	missense variant	-	NC_000009.12:g.136474062G>C	ExAC,TOPMed,gnomAD
rs746064192	p.Ser1185Phe	missense variant	-	NC_000009.12:g.136474062G>A	ExAC,TOPMed,gnomAD
rs770976773	p.Leu1186Arg	missense variant	-	NC_000009.12:g.136474059A>C	ExAC,gnomAD
rs373058731	p.Leu1186Phe	missense variant	-	NC_000009.12:g.136474060G>A	ESP,ExAC,TOPMed,gnomAD
rs1248479074	p.Tyr1187Cys	missense variant	-	NC_000009.12:g.136474056T>C	TOPMed,gnomAD
rs1478582527	p.Gln1189Arg	missense variant	-	NC_000009.12:g.136474050T>C	TOPMed
rs375404168	p.Asp1190Val	missense variant	-	NC_000009.12:g.136472110T>A	ESP,TOPMed
rs186193641	p.Val1191Phe	missense variant	-	NC_000009.12:g.136472108C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs889888917	p.Ser1193Asn	missense variant	-	NC_000009.12:g.136472101C>T	TOPMed,gnomAD
rs1335929370	p.Ser1193Arg	missense variant	-	NC_000009.12:g.136472100G>C	gnomAD
rs763646820	p.Leu1194Val	missense variant	-	NC_000009.12:g.136472099G>C	ExAC,gnomAD
rs200721378	p.Tyr1195Cys	missense variant	-	NC_000009.12:g.136472095T>C	ESP,ExAC,TOPMed,gnomAD
rs200721378	p.Tyr1195Phe	missense variant	-	NC_000009.12:g.136472095T>A	ESP,ExAC,TOPMed,gnomAD
rs753227726	p.Glu1196Lys	missense variant	-	NC_000009.12:g.136472093C>T	ExAC,gnomAD
rs1407622267	p.Arg1198Ter	stop gained	-	NC_000009.12:g.136472087G>A	gnomAD
rs1175833008	p.Arg1198Gln	missense variant	-	NC_000009.12:g.136472086C>T	gnomAD
rs1175833008	p.Arg1198Gln	missense variant	-	NC_000009.12:g.136472086C>T	NCI-TCGA
rs1333799526	p.Arg1200Ser	missense variant	-	NC_000009.12:g.136472079C>A	TOPMed,gnomAD
rs776918665	p.Arg1200Trp	missense variant	-	NC_000009.12:g.136472081T>A	ExAC,gnomAD
rs766605511	p.Pro1201Ser	missense variant	-	NC_000009.12:g.136472078G>A	ExAC,gnomAD
rs760841497	p.Pro1201Leu	missense variant	-	NC_000009.12:g.136472077G>A	ExAC,TOPMed,gnomAD
rs374240602	p.Tyr1202Ser	missense variant	-	NC_000009.12:g.136472074T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs374240602	p.Tyr1202Cys	missense variant	-	NC_000009.12:g.136472074T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs374240602	p.Tyr1202Phe	missense variant	-	NC_000009.12:g.136472074T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1219428797	p.Asp1203Asn	missense variant	-	NC_000009.12:g.136472072C>T	gnomAD
rs772157297	p.Asp1203Val	missense variant	-	NC_000009.12:g.136472071T>A	ExAC,TOPMed,gnomAD
rs374254404	p.Gly1204Asp	missense variant	-	NC_000009.12:g.136472068C>T	ESP,ExAC,gnomAD
rs775480471	p.Ala1205Val	missense variant	-	NC_000009.12:g.136472065G>A	ExAC,TOPMed,gnomAD
rs769540478	p.Ala1206Ser	missense variant	-	NC_000009.12:g.136472063C>A	ExAC,TOPMed,gnomAD
rs150877534	p.Ala1206Val	missense variant	-	NC_000009.12:g.136472062G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs756990427	p.Ser1207Thr	missense variant	-	NC_000009.12:g.136472060A>T	ExAC,TOPMed,gnomAD
rs777475897	p.Tyr1209Cys	missense variant	-	NC_000009.12:g.136472053T>C	ExAC,gnomAD
rs777475897	p.Tyr1209Phe	missense variant	-	NC_000009.12:g.136472053T>A	ExAC,gnomAD
rs544662603	p.Ala1210Thr	missense variant	-	NC_000009.12:g.136472051C>T	1000Genomes,ExAC,gnomAD
rs753212791	p.Asn1212Lys	missense variant	-	NC_000009.12:g.136472043G>C	ExAC,gnomAD
rs753212791	p.Asn1212Lys	missense variant	-	NC_000009.12:g.136472043G>T	ExAC,gnomAD
rs1331766894	p.Tyr1213His	missense variant	-	NC_000009.12:g.136472042A>G	gnomAD
rs755385943	p.Arg1214Ser	missense variant	-	NC_000009.12:g.136472039G>T	ExAC,gnomAD
rs755385943	p.Arg1214Cys	missense variant	-	NC_000009.12:g.136472039G>A	ExAC,gnomAD
rs763056662	p.Arg1214His	missense variant	-	NC_000009.12:g.136472038C>T	ExAC,TOPMed,gnomAD
rs968420041	p.Tyr1215Cys	missense variant	-	NC_000009.12:g.136472035T>C	TOPMed,gnomAD
rs968420041	p.Tyr1215Ser	missense variant	-	NC_000009.12:g.136472035T>G	TOPMed,gnomAD
rs766693055	p.Pro1216Ser	missense variant	-	NC_000009.12:g.136472033G>A	ExAC,TOPMed,gnomAD
rs766693055	p.Pro1216Ala	missense variant	-	NC_000009.12:g.136472033G>C	ExAC,TOPMed,gnomAD
rs767547173	p.Glu1217Lys	missense variant	-	NC_000009.12:g.136472030C>T	ExAC,TOPMed,gnomAD
rs767547173	p.Glu1217Gln	missense variant	-	NC_000009.12:g.136472030C>G	ExAC,TOPMed,gnomAD
rs1290723127	p.Pro1218Arg	missense variant	-	NC_000009.12:g.136472026G>C	TOPMed,gnomAD
rs769784106	p.Glu1219Lys	missense variant	-	NC_000009.12:g.136472024C>T	ExAC,TOPMed,gnomAD
rs776597126	p.Arg1220Gln	missense variant	-	NC_000009.12:g.136472020C>T	ExAC,gnomAD
rs963694165	p.Arg1220Trp	missense variant	-	NC_000009.12:g.136472021G>A	gnomAD
rs963694165	p.Arg1220Gly	missense variant	-	NC_000009.12:g.136472021G>C	gnomAD
rs776597126	p.Arg1220Leu	missense variant	-	NC_000009.12:g.136472020C>A	ExAC,gnomAD
rs746718353	p.Pro1221Ser	missense variant	-	NC_000009.12:g.136472018G>A	ExAC,gnomAD
rs1163336315	p.Ser1223Phe	missense variant	-	NC_000009.12:g.136472011G>A	gnomAD
rs376239396	p.Arg1224Gln	missense variant	-	NC_000009.12:g.136472008C>T	ESP,ExAC,TOPMed,gnomAD
rs376239396	p.Arg1224Pro	missense variant	-	NC_000009.12:g.136472008C>G	ESP,ExAC,TOPMed,gnomAD
rs376239396	p.Arg1224Leu	missense variant	-	NC_000009.12:g.136472008C>A	ESP,ExAC,TOPMed,gnomAD
rs1171686747	p.Ala1225Thr	missense variant	-	NC_000009.12:g.136472006C>T	TOPMed,gnomAD
rs755543118	p.Ser1226Asn	missense variant	-	NC_000009.12:g.136472002C>T	ExAC,TOPMed,gnomAD
rs754314928	p.His1227Arg	missense variant	-	NC_000009.12:g.136471999T>C	ExAC,gnomAD
rs780442329	p.Ser1228Phe	missense variant	-	NC_000009.12:g.136471996G>A	ExAC,gnomAD
rs1251701736	p.SerSerGlu1228Ter	stop gained	-	NC_000009.12:g.136471991_136471996del	gnomAD
rs373370709	p.Ser1229Trp	missense variant	-	NC_000009.12:g.136471993G>C	ESP,ExAC,TOPMed,gnomAD
rs373370709	p.Ser1229Leu	missense variant	-	NC_000009.12:g.136471993G>A	ESP,ExAC,TOPMed,gnomAD
rs1428026382	p.Glu1230Asp	missense variant	-	NC_000009.12:g.136471989T>A	TOPMed
COSM753167	p.Glu1230Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136471991C>T	NCI-TCGA Cosmic
rs201366882	p.Arg1231Trp	missense variant	-	NC_000009.12:g.136471988G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs377304650	p.Arg1231Gln	missense variant	-	NC_000009.12:g.136471987C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201366882	p.Arg1231Gly	missense variant	-	NC_000009.12:g.136471988G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1293482673	p.Pro1233Ser	missense variant	-	NC_000009.12:g.136471982G>A	gnomAD
rs751680877	p.Pro1234Thr	missense variant	-	NC_000009.12:g.136471979G>T	ExAC,TOPMed,gnomAD
rs751680877	p.Pro1234Ser	missense variant	-	NC_000009.12:g.136471979G>A	ExAC,TOPMed,gnomAD
rs1346372866	p.Arg1235Gly	missense variant	-	NC_000009.12:g.136471976T>C	gnomAD
rs1262559434	p.Tyr1238Cys	missense variant	-	NC_000009.12:g.136468504T>C	gnomAD
rs1201925959	p.Pro1239Ala	missense variant	-	NC_000009.12:g.136468502G>C	gnomAD
rs1159442432	p.Glu1240Ter	stop gained	-	NC_000009.12:g.136468499C>A	TOPMed
rs779478361	p.Gly1241Ala	missense variant	-	NC_000009.12:g.136468495C>G	ExAC,gnomAD
rs368615156	p.Tyr1242Cys	missense variant	-	NC_000009.12:g.136468492T>C	ESP,ExAC,TOPMed,gnomAD
rs1453963906	p.Tyr1243Cys	missense variant	-	NC_000009.12:g.136468489T>C	gnomAD
rs963301372	p.Tyr1243His	missense variant	-	NC_000009.12:g.136468490A>G	TOPMed,gnomAD
rs1376119979	p.Ser1244Ile	missense variant	-	NC_000009.12:g.136468486C>A	TOPMed
rs781650456	p.Ser1245Tyr	missense variant	-	NC_000009.12:g.136468483G>T	ExAC
rs1334114912	p.Lys1246Asn	missense variant	-	NC_000009.12:g.136468479T>G	TOPMed,gnomAD
rs776242531	p.Ser1247Asn	missense variant	-	NC_000009.12:g.136468477C>T	ExAC,gnomAD
rs1385067982	p.Ser1247Arg	missense variant	-	NC_000009.12:g.136468476A>T	TOPMed,gnomAD
rs1157563363	p.Gly1248Arg	missense variant	-	NC_000009.12:g.136468475C>G	gnomAD
rs1305746401	p.Trp1249Arg	missense variant	-	NC_000009.12:g.136468472A>T	TOPMed,gnomAD
rs1369957154	p.Ser1250Gly	missense variant	-	NC_000009.12:g.136468469T>C	gnomAD
rs1443931072	p.Ser1251Ile	missense variant	-	NC_000009.12:g.136468465C>A	gnomAD
rs1164022676	p.Ser1251Gly	missense variant	-	NC_000009.12:g.136468466T>C	gnomAD
rs1164022676	p.Ser1251Cys	missense variant	-	NC_000009.12:g.136468466T>A	gnomAD
rs374538142	p.Gln1252Glu	missense variant	-	NC_000009.12:g.136468463G>C	ESP,ExAC,gnomAD
rs1190452747	p.Gln1252Pro	missense variant	-	NC_000009.12:g.136468462T>G	gnomAD
rs752848487	p.Ser1253Asn	missense variant	-	NC_000009.12:g.136468459C>T	ExAC,TOPMed,gnomAD
rs370969472	p.Asp1254Asn	missense variant	-	NC_000009.12:g.136468457C>T	ESP,ExAC,TOPMed,gnomAD
rs750310290	p.Asp1254Gly	missense variant	-	NC_000009.12:g.136468456T>C	ExAC,gnomAD
rs767399521	p.Tyr1256His	missense variant	-	NC_000009.12:g.136468451A>G	ExAC,TOPMed,gnomAD
rs1247252495	p.Tyr1256Cys	missense variant	-	NC_000009.12:g.136468450T>C	gnomAD
rs763746343	p.Tyr1259Phe	missense variant	-	NC_000009.12:g.136468441T>A	ExAC,TOPMed,gnomAD
rs763746343	p.Tyr1259Cys	missense variant	-	NC_000009.12:g.136468441T>C	ExAC,TOPMed,gnomAD
rs762542733	p.Tyr1260Ser	missense variant	-	NC_000009.12:g.136468438T>G	ExAC,gnomAD
rs80293091	p.Ser1261Pro	missense variant	-	NC_000009.12:g.136468436A>G	ExAC,gnomAD
rs746434732	p.Ser1261Phe	missense variant	-	NC_000009.12:g.136468435G>A	ExAC,TOPMed,gnomAD
rs746434732	p.Ser1261Cys	missense variant	-	NC_000009.12:g.136468435G>C	ExAC,TOPMed,gnomAD
rs1327690849	p.Ser1262Arg	missense variant	-	NC_000009.12:g.136468431G>T	gnomAD
rs1252239666	p.Tyr1264Cys	missense variant	-	NC_000009.12:g.136468426T>C	TOPMed
rs199951815	p.Asp1265Asn	missense variant	-	NC_000009.12:g.136468424C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly1267Arg	missense variant	-	NC_000009.12:g.136468418C>T	NCI-TCGA
rs758728611	p.Asp1268His	missense variant	-	NC_000009.12:g.136468415C>G	ExAC,TOPMed,gnomAD
rs758728611	p.Asp1268Asn	missense variant	-	NC_000009.12:g.136468415C>T	ExAC,TOPMed,gnomAD
rs777965887	p.Pro1269Ser	missense variant	-	NC_000009.12:g.136467081G>A	TOPMed,gnomAD
rs777965887	p.Pro1269Thr	missense variant	-	NC_000009.12:g.136467081G>T	TOPMed,gnomAD
rs772546770	p.Arg1274His	missense variant	-	NC_000009.12:g.136467065C>T	ExAC,TOPMed,gnomAD
rs773755664	p.Arg1274Cys	missense variant	-	NC_000009.12:g.136467066G>A	ExAC,TOPMed,gnomAD
rs1283397834	p.His1276Tyr	missense variant	-	NC_000009.12:g.136467060G>A	gnomAD
rs549725311	p.Arg1280Ser	missense variant	-	NC_000009.12:g.136467046T>G	1000Genomes
rs374820792	p.Arg1280Gly	missense variant	-	NC_000009.12:g.136467048T>C	ESP,ExAC,TOPMed,gnomAD
rs768852948	p.Asp1283Asn	missense variant	-	NC_000009.12:g.136467039C>T	ExAC,gnomAD
rs1442727845	p.Asp1283Glu	missense variant	-	NC_000009.12:g.136467037G>T	TOPMed,gnomAD
rs370460222	p.Arg1285Cys	missense variant	-	NC_000009.12:g.136467033G>A	ESP,ExAC,gnomAD
rs780129136	p.Arg1285His	missense variant	-	NC_000009.12:g.136467032C>T	ExAC,TOPMed,gnomAD
rs1470933673	p.Thr1286Ala	missense variant	-	NC_000009.12:g.136467030T>C	TOPMed,gnomAD
rs1470933673	p.Thr1286Ser	missense variant	-	NC_000009.12:g.136467030T>A	TOPMed,gnomAD
rs757170935	p.Tyr1287His	missense variant	-	NC_000009.12:g.136467027A>G	ExAC,gnomAD
rs751465419	p.Arg1289Trp	missense variant	-	NC_000009.12:g.136467021G>A	ExAC,TOPMed,gnomAD
rs201659618	p.Arg1289Gln	missense variant	-	NC_000009.12:g.136467020C>T	ESP,ExAC,TOPMed,gnomAD
rs193285505	p.Arg1290Thr	missense variant	-	NC_000009.12:g.136467017C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs935715214	p.Tyr1291His	missense variant	-	NC_000009.12:g.136467015A>G	TOPMed
rs759180660	p.Ala1295Val	missense variant	-	NC_000009.12:g.136467002G>A	ExAC,gnomAD
rs764810738	p.Ala1295Thr	missense variant	-	NC_000009.12:g.136467003C>T	ExAC,TOPMed,gnomAD
rs564351781	p.Glu1296Ala	missense variant	-	NC_000009.12:g.136466999T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs374509896	p.Tyr1297His	missense variant	-	NC_000009.12:g.136466997A>G	ESP,ExAC,TOPMed,gnomAD
rs376172438	p.Ala1299Thr	missense variant	-	NC_000009.12:g.136466991C>T	gnomAD
rs376172438	p.Ala1299Ser	missense variant	-	NC_000009.12:g.136466991C>A	gnomAD
rs772634830	p.Tyr1300His	missense variant	-	NC_000009.12:g.136466988A>G	ExAC,gnomAD
rs1349630742	p.Arg1301Gly	missense variant	-	NC_000009.12:g.136466985T>C	gnomAD
rs1277578220	p.Glu1303Gln	missense variant	-	NC_000009.12:g.136466979C>G	gnomAD
rs1454490910	p.His1304Pro	missense variant	-	NC_000009.12:g.136466975T>G	gnomAD
rs1310769787	p.Ser1305Thr	missense variant	-	NC_000009.12:g.136466973A>T	gnomAD
rs1451934689	p.Ala1306Val	missense variant	-	NC_000009.12:g.136466969G>A	gnomAD
rs1337454926	p.Ala1306Pro	missense variant	-	NC_000009.12:g.136466970C>G	gnomAD
rs749483820	p.Phe1307Ser	missense variant	-	NC_000009.12:g.136466966A>G	ExAC,gnomAD
NCI-TCGA novel	p.Phe1307Leu	missense variant	-	NC_000009.12:g.136466965G>T	NCI-TCGA
rs768780044	p.Phe1307Val	missense variant	-	NC_000009.12:g.136466967A>C	ExAC,gnomAD
rs769894425	p.Gly1308Arg	missense variant	-	NC_000009.12:g.136466964C>G	ExAC,gnomAD
rs769894425	p.Gly1308Arg	missense variant	-	NC_000009.12:g.136466964C>T	ExAC,gnomAD
rs769894425	p.Gly1308Trp	missense variant	-	NC_000009.12:g.136466964C>A	ExAC,gnomAD
rs1448262805	p.Asp1309Glu	missense variant	-	NC_000009.12:g.136466959G>C	TOPMed
rs1303843378	p.Arg1310Gly	missense variant	-	NC_000009.12:g.136466958T>C	TOPMed
rs1485346117	p.Pro1311Ser	missense variant	-	NC_000009.12:g.136466461G>A	gnomAD
rs200813257	p.Glu1312Lys	missense variant	-	NC_000009.12:g.136466458C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs755766327	p.Arg1314Leu	missense variant	-	NC_000009.12:g.136466451C>A	ExAC,TOPMed,gnomAD
rs370445138	p.Arg1314Gly	missense variant	-	NC_000009.12:g.136466452G>C	ExAC,TOPMed,gnomAD
rs370445138	p.Arg1314Cys	missense variant	-	NC_000009.12:g.136466452G>A	ExAC,TOPMed,gnomAD
rs755766327	p.Arg1314Pro	missense variant	-	NC_000009.12:g.136466451C>G	ExAC,TOPMed,gnomAD
rs755766327	p.Arg1314His	missense variant	-	NC_000009.12:g.136466451C>T	ExAC,TOPMed,gnomAD
rs1276469484	p.Asn1316Ser	missense variant	-	NC_000009.12:g.136466445T>C	gnomAD
rs769874962	p.Asn1317Ser	missense variant	-	NC_000009.12:g.136466442T>C	ExAC,TOPMed,gnomAD
rs1343790683	p.Trp1318Leu	missense variant	-	NC_000009.12:g.136466439C>A	TOPMed
rs1306969898	p.Trp1318Cys	missense variant	-	NC_000009.12:g.136466438C>G	gnomAD
rs764422846	p.Asp1321Asn	missense variant	-	NC_000009.12:g.136466431C>T	ExAC,TOPMed,gnomAD
rs764422846	p.Asp1321His	missense variant	-	NC_000009.12:g.136466431C>G	ExAC,TOPMed,gnomAD
rs1171746590	p.Pro1322Ser	missense variant	-	NC_000009.12:g.136466428G>A	gnomAD
rs775650449	p.Arg1323His	missense variant	-	NC_000009.12:g.136466424C>T	ExAC,TOPMed,gnomAD
rs763369898	p.Arg1323Cys	missense variant	-	NC_000009.12:g.136466425G>A	ExAC,TOPMed,gnomAD
rs765466537	p.Thr1325Ala	missense variant	-	NC_000009.12:g.136466419T>C	ExAC,gnomAD
rs759715457	p.Thr1325Met	missense variant	-	NC_000009.12:g.136466418G>A	ExAC,gnomAD
rs770978746	p.Ser1327Gly	missense variant	-	NC_000009.12:g.136466413T>C	ExAC,gnomAD
rs188730587	p.Asp1330Asn	missense variant	-	NC_000009.12:g.136466404C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs188730587	p.Asp1330Tyr	missense variant	-	NC_000009.12:g.136466404C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1174057852	p.Pro1332Leu	missense variant	-	NC_000009.12:g.136466397G>A	TOPMed
rs779662133	p.Asp1333Asn	missense variant	-	NC_000009.12:g.136466395C>T	ExAC,TOPMed,gnomAD
rs755859057	p.Asp1333Glu	missense variant	-	NC_000009.12:g.136466393A>C	ExAC,TOPMed,gnomAD
rs779662133	p.Asp1333His	missense variant	-	NC_000009.12:g.136466395C>G	ExAC,TOPMed,gnomAD
rs565142453	p.Pro1334Ala	missense variant	-	NC_000009.12:g.136466392G>C	1000Genomes
rs375311104	p.Pro1334Leu	missense variant	-	NC_000009.12:g.136466391G>A	ESP,ExAC,TOPMed,gnomAD
rs540499468	p.His1335Pro	missense variant	-	NC_000009.12:g.136466388T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs947192655	p.Pro1338Leu	missense variant	-	NC_000009.12:g.136466379G>A	TOPMed,gnomAD
rs960962720	p.Tyr1339Cys	missense variant	-	NC_000009.12:g.136466376T>C	TOPMed,gnomAD
rs1397470481	p.Glu1342Lys	missense variant	-	NC_000009.12:g.136466368C>T	gnomAD
rs377554237	p.Arg1345Gln	missense variant	-	NC_000009.12:g.136466358C>T	ExAC,TOPMed,gnomAD
rs753137789	p.Arg1345Trp	missense variant	-	NC_000009.12:g.136466359G>A	ExAC,TOPMed,gnomAD
rs759805334	p.Arg1346Cys	missense variant	-	NC_000009.12:g.136466356G>A	ExAC,TOPMed,gnomAD
rs368912937	p.Arg1346His	missense variant	-	NC_000009.12:g.136466355C>T	ESP,TOPMed,gnomAD
rs766515410	p.Val1348Ile	missense variant	-	NC_000009.12:g.136466350C>T	ExAC,TOPMed,gnomAD
rs951213768	p.Glu1351Gln	missense variant	-	NC_000009.12:g.136466341C>G	TOPMed,gnomAD
rs1324386654	p.Ser1353Ala	missense variant	-	NC_000009.12:g.136466335A>C	gnomAD
rs374231100	p.Ser1353Leu	missense variant	-	NC_000009.12:g.136466334G>A	ESP,ExAC,TOPMed,gnomAD
rs1446654683	p.Arg1355Gln	missense variant	-	NC_000009.12:g.136466328C>T	gnomAD
rs199798606	p.Arg1355Trp	missense variant	-	NC_000009.12:g.136466329G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser1356Ile	missense variant	-	NC_000009.12:g.136466325C>A	NCI-TCGA
rs1338108593	p.Leu1357Pro	missense variant	-	NC_000009.12:g.136466322A>G	gnomAD
rs1050199551	p.Leu1357Met	missense variant	-	NC_000009.12:g.136466323G>T	TOPMed,gnomAD
rs1400883302	p.His1358Arg	missense variant	-	NC_000009.12:g.136466319T>C	gnomAD
rs1402794027	p.Ala1360Val	missense variant	-	NC_000009.12:g.136466313G>A	TOPMed
NCI-TCGA novel	p.Ala1360AspPheSerTerUnkUnkUnk	frameshift	-	NC_000009.12:g.136466313G>-	NCI-TCGA
rs775462972	p.Ala1360Thr	missense variant	-	NC_000009.12:g.136466314C>T	ExAC,TOPMed,gnomAD
rs1271685843	p.His1361Gln	missense variant	-	NC_000009.12:g.136466309G>C	TOPMed,gnomAD
rs1340690750	p.His1361Asn	missense variant	-	NC_000009.12:g.136466311G>T	TOPMed
NCI-TCGA novel	p.Leu1363Pro	missense variant	-	NC_000009.12:g.136466304A>G	NCI-TCGA
rs1437745362	p.Ala1364Thr	missense variant	-	NC_000009.12:g.136466302C>T	gnomAD
rs1387074806	p.Arg1366Cys	missense variant	-	NC_000009.12:g.136466296G>A	gnomAD
rs1024033674	p.Arg1366His	missense variant	-	NC_000009.12:g.136466295C>T	TOPMed,gnomAD
rs555976083	p.Arg1367Cys	missense variant	-	NC_000009.12:g.136466293G>A	1000Genomes,TOPMed,gnomAD
rs537949436	p.Arg1367His	missense variant	-	NC_000009.12:g.136466292C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs537949436	p.Arg1367Pro	missense variant	-	NC_000009.12:g.136466292C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs780986397	p.Ser1368Arg	missense variant	-	NC_000009.12:g.136466288G>C	ExAC,gnomAD
NCI-TCGA novel	p.Ser1369Asn	missense variant	-	NC_000009.12:g.136466286C>T	NCI-TCGA
rs1220276258	p.Ser1371Gly	missense variant	-	NC_000009.12:g.136466281T>C	TOPMed
rs770640981	p.Ser1372Pro	missense variant	-	NC_000009.12:g.136466278A>G	ExAC,TOPMed,gnomAD
rs1488718023	p.Ser1372Phe	missense variant	-	NC_000009.12:g.136466277G>A	TOPMed
rs914088060	p.His1373Arg	missense variant	-	NC_000009.12:g.136466274T>C	TOPMed
rs763169052	p.Ser1374Leu	missense variant	-	NC_000009.12:g.136466271G>A	ExAC,TOPMed,gnomAD
rs116048441	p.His1375Gln	missense variant	-	NC_000009.12:g.136466267G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1317702405	p.His1375Asn	missense variant	-	NC_000009.12:g.136466269G>T	gnomAD
rs1451524614	p.Ser1377Arg	missense variant	-	NC_000009.12:g.136466134A>C	TOPMed,gnomAD
rs1306370751	p.Gln1378Glu	missense variant	-	NC_000009.12:g.136466133G>C	TOPMed,gnomAD
rs766065503	p.Gln1378Pro	missense variant	-	NC_000009.12:g.136466132T>G	ExAC,gnomAD
rs1198110667	p.Ile1379Met	missense variant	-	NC_000009.12:g.136466128A>C	gnomAD
rs1262252155	p.Arg1381Gly	missense variant	-	NC_000009.12:g.136466124T>C	TOPMed
rs760431602	p.His1383Tyr	missense variant	-	NC_000009.12:g.136466118G>A	ExAC,TOPMed,gnomAD
rs772734028	p.His1383Arg	missense variant	-	NC_000009.12:g.136466117T>C	ExAC
rs1238640161	p.Asn1384Ser	missense variant	-	NC_000009.12:g.136466114T>C	TOPMed
rs771685309	p.Asn1384Asp	missense variant	-	NC_000009.12:g.136466115T>C	ExAC,TOPMed,gnomAD
rs747667668	p.Val1385Leu	missense variant	-	NC_000009.12:g.136466112C>A	ExAC,gnomAD
NCI-TCGA novel	p.Val1385Ala	missense variant	-	NC_000009.12:g.136466111A>G	NCI-TCGA
rs778255040	p.Ala1387Val	missense variant	-	NC_000009.12:g.136466105G>A	ExAC,gnomAD
rs778255040	p.Ala1387Gly	missense variant	-	NC_000009.12:g.136466105G>C	ExAC,gnomAD
COSM6115382	p.Ala1387Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136466106C>A	NCI-TCGA Cosmic
rs769945456	p.Gly1388Ser	missense variant	-	NC_000009.12:g.136466103C>T	ExAC,TOPMed,gnomAD
rs756423341	p.Ser1389Phe	missense variant	-	NC_000009.12:g.136466099G>A	ExAC,TOPMed,gnomAD
COSM487226	p.Tyr1390Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.136466095G>T	NCI-TCGA Cosmic
rs781277506	p.Glu1391Lys	missense variant	-	NC_000009.12:g.136466094C>T	ExAC,gnomAD
rs1170117336	p.Glu1391Asp	missense variant	-	NC_000009.12:g.136466092C>G	gnomAD
rs781277506	p.Glu1391Gln	missense variant	-	NC_000009.12:g.136466094C>G	ExAC,gnomAD
rs757444103	p.Ala1392Val	missense variant	-	NC_000009.12:g.136466090G>A	ExAC,gnomAD
rs960694744	p.Pro1393Leu	missense variant	-	NC_000009.12:g.136466087G>A	TOPMed,gnomAD
rs565105003	p.Leu1394Phe	missense variant	-	NC_000009.12:g.136466085G>A	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Leu1394Pro	missense variant	-	NC_000009.12:g.136466084A>G	NCI-TCGA
rs755014230	p.Pro1395Leu	missense variant	-	NC_000009.12:g.136466081G>A	ExAC,TOPMed,gnomAD
rs753812461	p.Gly1397Asp	missense variant	-	NC_000009.12:g.136466075C>T	ExAC,gnomAD
rs1196270981	p.Ser1398Ala	missense variant	-	NC_000009.12:g.136466073A>C	gnomAD
rs540412966	p.His1400Asp	missense variant	-	NC_000009.12:g.136466067G>C	1000Genomes,ExAC,gnomAD
COSM753169	p.His1400Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136466067G>A	NCI-TCGA Cosmic
rs528690627	p.Gly1401Cys	missense variant	-	NC_000009.12:g.136466064C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs528690627	p.Gly1401Ser	missense variant	-	NC_000009.12:g.136466064C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1281123751	p.Asp1402Asn	missense variant	-	NC_000009.12:g.136466061C>T	gnomAD
rs761411387	p.Asp1402Gly	missense variant	-	NC_000009.12:g.136466060T>C	ExAC,TOPMed,gnomAD
rs768136595	p.Gly1406Ser	missense variant	-	NC_000009.12:g.136466049C>T	ExAC,TOPMed,gnomAD
rs1444583609	p.Gly1406Asp	missense variant	-	NC_000009.12:g.136466048C>T	gnomAD
rs749855021	p.Thr1407Ser	missense variant	-	NC_000009.12:g.136466045G>C	ExAC,gnomAD
rs182442427	p.Thr1407Ala	missense variant	-	NC_000009.12:g.136466046T>C	1000Genomes
rs753561737	p.Arg1409Cys	missense variant	-	NC_000009.12:g.136466040G>A	ExAC,TOPMed,gnomAD
rs770270784	p.Arg1409His	missense variant	-	NC_000009.12:g.136466039C>T	ExAC,TOPMed,gnomAD
rs1160718711	p.Ser1410Arg	missense variant	-	NC_000009.12:g.136466035G>T	gnomAD
rs1423462936	p.Ser1410Gly	missense variant	-	NC_000009.12:g.136466037T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Ser1413Asn	missense variant	-	NC_000009.12:g.136466027C>T	NCI-TCGA
rs200783599	p.Gly1415Ser	missense variant	-	NC_000009.12:g.136466022C>T	ESP,ExAC,TOPMed,gnomAD
rs781571637	p.Gly1415Asp	missense variant	-	NC_000009.12:g.136466021C>T	ExAC
rs561420041	p.Pro1416Leu	missense variant	-	NC_000009.12:g.136466018G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs757584654	p.Pro1416Ser	missense variant	-	NC_000009.12:g.136466019G>A	ExAC,gnomAD
rs561420041	p.Pro1416His	missense variant	-	NC_000009.12:g.136466018G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs369869654	p.Gly1417Ser	missense variant	-	NC_000009.12:g.136466016C>T	ESP,ExAC,TOPMed,gnomAD
rs1173216684	p.Glu1420Lys	missense variant	-	NC_000009.12:g.136466007C>T	TOPMed
rs752753683	p.Tyr1421Asn	missense variant	-	NC_000009.12:g.136466004A>T	ExAC,gnomAD
rs199501843	p.Tyr1423Ter	stop gained	-	NC_000009.12:g.136465996G>T	ESP,ExAC,TOPMed,gnomAD
rs779866811	p.Tyr1423Ser	missense variant	-	NC_000009.12:g.136465997T>G	ExAC,gnomAD
rs556126586	p.Pro1424Leu	missense variant	-	NC_000009.12:g.136465994G>A	1000Genomes,TOPMed
rs574310451	p.Pro1424Ser	missense variant	-	NC_000009.12:g.136465995G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs201779703	p.Asp1426Asn	missense variant	-	NC_000009.12:g.136465989C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201779703	p.Asp1426Tyr	missense variant	-	NC_000009.12:g.136465989C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs762456981	p.Val1428Ile	missense variant	-	NC_000009.12:g.136465983C>T	ExAC,TOPMed,gnomAD
rs1401648761	p.Trp1429Ser	missense variant	-	NC_000009.12:g.136465979C>G	TOPMed
rs1480095086	p.Pro1430Leu	missense variant	-	NC_000009.12:g.136465976G>A	gnomAD
rs775007817	p.Pro1430Ser	missense variant	-	NC_000009.12:g.136465977G>A	ExAC,gnomAD
rs760049021	p.Met1432Val	missense variant	-	NC_000009.12:g.136465971T>C	ExAC,gnomAD
rs776909079	p.Met1432Thr	missense variant	-	NC_000009.12:g.136465970A>G	ExAC,gnomAD
rs771407781	p.Met1432Ile	missense variant	-	NC_000009.12:g.136465969C>T	ExAC,TOPMed,gnomAD
rs372134260	p.Glu1433Lys	missense variant	-	NC_000009.12:g.136465968C>T	ESP,ExAC,gnomAD
rs370552253	p.Ser1436Leu	missense variant	-	NC_000009.12:g.136464559G>A	ESP,ExAC,TOPMed,gnomAD
COSM1106811	p.Arg1438Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136464553C>A	NCI-TCGA Cosmic
rs764773070	p.Thr1440Ala	missense variant	-	NC_000009.12:g.136464548T>C	ExAC,gnomAD
COSM1314629	p.Ser1441Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136464544G>A	NCI-TCGA Cosmic
COSM3905712	p.Phe1445Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136464533A>T	NCI-TCGA Cosmic
rs1292321298	p.Ser1446Leu	missense variant	-	NC_000009.12:g.136464529G>A	TOPMed
rs1387528189	p.Val1447Glu	missense variant	-	NC_000009.12:g.136464526A>T	TOPMed
rs760019478	p.Pro1448Ser	missense variant	-	NC_000009.12:g.136464524G>A	ExAC,gnomAD
rs1264715440	p.Pro1448Leu	missense variant	-	NC_000009.12:g.136464523G>A	TOPMed,gnomAD
rs368514201	p.His1449Gln	missense variant	-	NC_000009.12:g.136464519A>C	ESP,ExAC,TOPMed,gnomAD
COSM1187852	p.His1449Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136464521G>A	NCI-TCGA Cosmic
rs1320386385	p.His1449Pro	missense variant	-	NC_000009.12:g.136464520T>G	TOPMed
rs1319948603	p.Val1450Ile	missense variant	-	NC_000009.12:g.136464518C>T	TOPMed,gnomAD
rs761133373	p.Ala1452Val	missense variant	-	NC_000009.12:g.136464511G>A	ExAC
rs1219449388	p.Arg1453Met	missense variant	-	NC_000009.12:g.136464508C>A	gnomAD
rs1260127521	p.Arg1453Trp	missense variant	-	NC_000009.12:g.136464509T>A	gnomAD
rs913607742	p.Gly1455Arg	missense variant	-	NC_000009.12:g.136464503C>G	gnomAD
rs913607742	p.Gly1455Cys	missense variant	-	NC_000009.12:g.136464503C>A	gnomAD
rs773659876	p.Pro1456Arg	missense variant	-	NC_000009.12:g.136464499G>C	ExAC,gnomAD
rs778904624	p.Gly1458Ser	missense variant	-	NC_000009.12:g.136464494C>T	ExAC,TOPMed,gnomAD
rs768771675	p.Gln1459His	missense variant	-	NC_000009.12:g.136464489C>G	ExAC,TOPMed,gnomAD
rs1351043313	p.Leu1460Phe	missense variant	-	NC_000009.12:g.136464488G>A	TOPMed
rs760626765	p.Ile1461Val	missense variant	-	NC_000009.12:g.136464485T>C	ExAC,TOPMed,gnomAD
rs1464767541	p.Ile1461Thr	missense variant	-	NC_000009.12:g.136464484A>G	gnomAD
rs1420947572	p.Lys1462Glu	missense variant	-	NC_000009.12:g.136464482T>C	gnomAD
rs534772431	p.Asn1466Ser	missense variant	-	NC_000009.12:g.136464469T>C	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Leu1467Val	missense variant	-	NC_000009.12:g.136464467G>C	NCI-TCGA
rs1462358682	p.Val1476Ala	missense variant	-	NC_000009.12:g.136464439A>G	TOPMed
rs1481601000	p.Val1476Met	missense variant	-	NC_000009.12:g.136464440C>T	gnomAD
rs1317392493	p.Met1481Ile	missense variant	-	NC_000009.12:g.136464423C>T	gnomAD
COSM6183170	p.Glu1482Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.136464422C>A	NCI-TCGA Cosmic
rs774523830	p.Ala1483Val	missense variant	-	NC_000009.12:g.136463739G>A	ExAC,TOPMed,gnomAD
rs764401969	p.His1487Tyr	missense variant	-	NC_000009.12:g.136463728G>A	ExAC,gnomAD
rs763048548	p.Thr1488Met	missense variant	-	NC_000009.12:g.136463724G>A	ExAC,gnomAD
rs775588060	p.Met1494Thr	missense variant	-	NC_000009.12:g.136463706A>G	ExAC,gnomAD
rs1424485733	p.Arg1495Trp	missense variant	-	NC_000009.12:g.136463704G>A	TOPMed,gnomAD
rs377240654	p.Arg1495Gln	missense variant	-	NC_000009.12:g.136463703C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs541005290	p.Ala1496Val	missense variant	-	NC_000009.12:g.136463700G>A	1000Genomes,ExAC,TOPMed,gnomAD
COSM1106809	p.Phe1497Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136463697A>G	NCI-TCGA Cosmic
rs1287246322	p.Pro1498Leu	missense variant	-	NC_000009.12:g.136463694G>A	gnomAD
rs747996203	p.Gly1499Glu	missense variant	-	NC_000009.12:g.136463691C>T	ExAC,TOPMed,gnomAD
rs372600578	p.Ala1502Val	missense variant	-	NC_000009.12:g.136463682G>A	ESP,TOPMed,gnomAD
rs778530277	p.Ala1502Ser	missense variant	-	NC_000009.12:g.136463683C>A	ExAC,TOPMed,gnomAD
rs1026678055	p.Lys1503Glu	missense variant	-	NC_000009.12:g.136463680T>C	TOPMed
rs1340164708	p.Asp1505Gly	missense variant	-	NC_000009.12:g.136463596T>C	TOPMed
rs763211212	p.Asp1505Asn	missense variant	-	NC_000009.12:g.136463597C>T	ExAC,TOPMed,gnomAD
rs765375075	p.Thr1506Ala	missense variant	-	NC_000009.12:g.136463594T>C	ExAC,gnomAD
rs1039011490	p.Val1511Ala	missense variant	-	NC_000009.12:g.136463578A>G	TOPMed
rs1265970534	p.Ala1515Ser	missense variant	-	NC_000009.12:g.136463567C>A	TOPMed
rs1332641248	p.Gln1516Ter	stop gained	-	NC_000009.12:g.136463564G>A	gnomAD
COSM5153324	p.Gln1516His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136463562C>A	NCI-TCGA Cosmic
rs776522300	p.Gln1516His	missense variant	-	NC_000009.12:g.136463562C>G	ExAC,gnomAD
rs772075776	p.Asn1517Ser	missense variant	-	NC_000009.12:g.136463560T>C	ExAC,gnomAD
rs761621566	p.Lys1518Glu	missense variant	-	NC_000009.12:g.136463558T>C	ExAC,TOPMed,gnomAD
rs561936629	p.Lys1518Arg	missense variant	-	NC_000009.12:g.136463557T>C	1000Genomes,ExAC,gnomAD
rs200331918	p.Met1520Val	missense variant	-	NC_000009.12:g.136463552T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1424534611	p.Lys1521Gln	missense variant	-	NC_000009.12:g.136463549T>G	gnomAD
rs1474610595	p.Asn1525Ser	missense variant	-	NC_000009.12:g.136463536T>C	gnomAD
rs779861496	p.Leu1528Ser	missense variant	-	NC_000009.12:g.136463527A>G	ExAC,gnomAD
rs769518274	p.Ile1529Val	missense variant	-	NC_000009.12:g.136463525T>C	ExAC,gnomAD
rs745395482	p.Asp1530Ala	missense variant	-	NC_000009.12:g.136463521T>G	ExAC,gnomAD
rs780531108	p.Lys1531Asn	missense variant	-	NC_000009.12:g.136463517T>G	ExAC,gnomAD
NCI-TCGA novel	p.Lys1531Thr	missense variant	-	NC_000009.12:g.136463518T>G	NCI-TCGA
rs1200047751	p.Glu1532Ala	missense variant	-	NC_000009.12:g.136463515T>G	gnomAD
rs1245610928	p.Ser1533Phe	missense variant	-	NC_000009.12:g.136463512G>A	TOPMed
rs751988588	p.Ala1534Val	missense variant	-	NC_000009.12:g.136463509G>A	ExAC,gnomAD
rs757824620	p.Ala1534Thr	missense variant	-	NC_000009.12:g.136463510C>T	ExAC,TOPMed,gnomAD
rs778259207	p.Leu1537Phe	missense variant	-	NC_000009.12:g.136463501G>A	ExAC,gnomAD
rs377035577	p.Asn1539Thr	missense variant	-	NC_000009.12:g.136463494T>G	ESP,ExAC,TOPMed,gnomAD
rs377035577	p.Asn1539Ser	missense variant	-	NC_000009.12:g.136463494T>C	ESP,ExAC,TOPMed,gnomAD
rs753001512	p.Phe1540Leu	missense variant	-	NC_000009.12:g.136463490A>C	ExAC,gnomAD
rs1457892996	p.Ile1541Phe	missense variant	-	NC_000009.12:g.136463489T>A	TOPMed
rs1054453975	p.Cys1545Tyr	missense variant	-	NC_000009.12:g.136463476C>T	TOPMed
COSM4844384	p.Arg1546Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136463474T>C	NCI-TCGA Cosmic
rs1457922771	p.Asn1548His	missense variant	-	NC_000009.12:g.136463468T>G	TOPMed
rs376298967	p.Val1551Met	missense variant	-	NC_000009.12:g.136463129C>T	ESP,ExAC,TOPMed,gnomAD
rs750463398	p.Asp1555Asn	missense variant	-	NC_000009.12:g.136463117C>T	ExAC,TOPMed,gnomAD
rs764153972	p.Ala1557Val	missense variant	-	NC_000009.12:g.136463110G>A	ExAC,TOPMed,gnomAD
rs1447633192	p.Glu1558Lys	missense variant	-	NC_000009.12:g.136463108C>T	gnomAD
COSM455600	p.Leu1560Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136463102G>T	NCI-TCGA Cosmic
rs775469122	p.Arg1562Gln	missense variant	-	NC_000009.12:g.136463095C>T	ExAC,TOPMed,gnomAD
rs765104349	p.Asp1563Ala	missense variant	-	NC_000009.12:g.136463092T>G	ExAC,gnomAD
rs1300506590	p.Asp1563Asn	missense variant	-	NC_000009.12:g.136463093C>T	gnomAD
rs1360382705	p.His1564Arg	missense variant	-	NC_000009.12:g.136463089T>C	gnomAD
rs1157559587	p.Arg1565Ile	missense variant	-	NC_000009.12:g.136463086C>A	gnomAD
rs562052222	p.Thr1566Ile	missense variant	-	NC_000009.12:g.136463083G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs770558819	p.Val1567Ala	missense variant	-	NC_000009.12:g.136463080A>G	ExAC,gnomAD
rs776143377	p.Val1567Met	missense variant	-	NC_000009.12:g.136463081C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Trp1568Cys	missense variant	-	NC_000009.12:g.136463076C>A	NCI-TCGA
rs1474044409	p.Gly1571Ala	missense variant	-	NC_000009.12:g.136463068C>G	gnomAD
rs746523348	p.Lys1572Asn	missense variant	-	NC_000009.12:g.136463064C>A	ExAC,gnomAD
NCI-TCGA novel	p.Lys1572Ter	stop gained	-	NC_000009.12:g.136463066T>A	NCI-TCGA
rs371265892	p.Ser1573Leu	missense variant	-	NC_000009.12:g.136463062G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1240219491	p.Pro1574Ser	missense variant	-	NC_000009.12:g.136463060G>A	gnomAD
rs367743154	p.Asn1575Ser	missense variant	-	NC_000009.12:g.136463056T>C	ESP,ExAC,TOPMed,gnomAD
rs749597968	p.Ala1577Gly	missense variant	-	NC_000009.12:g.136463050G>C	ExAC,TOPMed,gnomAD
rs749597968	p.Ala1577Val	missense variant	-	NC_000009.12:g.136463050G>A	ExAC,TOPMed,gnomAD
rs779303361	p.Ala1577Thr	missense variant	-	NC_000009.12:g.136463051C>T	ExAC,TOPMed,gnomAD
rs886374537	p.Ile1580Ser	missense variant	-	NC_000009.12:g.136463041A>C	gnomAD
rs1048994632	p.Thr1583Met	missense variant	-	NC_000009.12:g.136463032G>A	TOPMed,gnomAD
rs1017505490	p.Glu1585Asp	missense variant	-	NC_000009.12:g.136463025C>A	TOPMed
rs750504277	p.Val1587Gly	missense variant	-	NC_000009.12:g.136463020A>C	ExAC,gnomAD
rs1349924755	p.Val1590Met	missense variant	-	NC_000009.12:g.136463012C>T	gnomAD
rs752668821	p.Glu1593Asp	missense variant	-	NC_000009.12:g.136463001C>G	ExAC,TOPMed,gnomAD
rs576555567	p.Glu1593Gln	missense variant	-	NC_000009.12:g.136463003C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs765192503	p.Glu1594Lys	missense variant	-	NC_000009.12:g.136463000C>T	ExAC,gnomAD
rs765977142	p.Gly1596Arg	missense variant	-	NC_000009.12:g.136462994C>G	ExAC,TOPMed,gnomAD
rs765977142	p.Gly1596Cys	missense variant	-	NC_000009.12:g.136462994C>A	ExAC,TOPMed,gnomAD
COSM1489810	p.Glu1597Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136462991C>T	NCI-TCGA Cosmic
rs1488802652	p.Ala1598Thr	missense variant	-	NC_000009.12:g.136462988C>T	gnomAD
rs1032979317	p.Ser1601Cys	missense variant	-	NC_000009.12:g.136462978G>C	TOPMed,gnomAD
rs1467196870	p.Thr1604Ala	missense variant	-	NC_000009.12:g.136462970T>C	gnomAD
rs1210753637	p.Gly1605Asp	missense variant	-	NC_000009.12:g.136462966C>T	TOPMed
rs772756459	p.Gly1606Ser	missense variant	-	NC_000009.12:g.136462964C>T	ExAC,TOPMed,gnomAD
rs1293930545	p.Gly1606Asp	missense variant	-	NC_000009.12:g.136462963C>T	gnomAD
rs201789231	p.Pro1607Leu	missense variant	-	NC_000009.12:g.136462960G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201789231	p.Pro1607Gln	missense variant	-	NC_000009.12:g.136462960G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs749640077	p.Ala1608Val	missense variant	-	NC_000009.12:g.136462957G>A	ExAC,TOPMed,gnomAD
rs769145573	p.Ala1608Thr	missense variant	-	NC_000009.12:g.136462958C>T	ExAC,gnomAD
rs12375759	p.Ala1610Ser	missense variant	-	NC_000009.12:g.136462952C>A	ESP,TOPMed,gnomAD
rs12375759	p.Ala1610Pro	missense variant	-	NC_000009.12:g.136462952C>G	ESP,TOPMed,gnomAD
rs12375759	p.Ala1610Thr	missense variant	-	NC_000009.12:g.136462952C>T	ESP,TOPMed,gnomAD
rs746069224	p.Ala1611Thr	missense variant	-	NC_000009.12:g.136462949C>T	ExAC,gnomAD
rs781480951	p.Ser1612Asn	missense variant	-	NC_000009.12:g.136462945C>T	ExAC,gnomAD
rs554095424	p.Ser1613Leu	missense variant	-	NC_000009.12:g.136462942G>A	1000Genomes,ExAC,gnomAD
rs575014700	p.Leu1614Ile	missense variant	-	NC_000009.12:g.136462940G>T	1000Genomes,ExAC,gnomAD
rs556844298	p.Leu1614Arg	missense variant	-	NC_000009.12:g.136462939A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs767087664	p.Glu1615Ala	missense variant	-	NC_000009.12:g.136462936T>G	ExAC,gnomAD
rs373379592	p.Glu1615Asp	missense variant	-	NC_000009.12:g.136462935C>A	ESP,ExAC,gnomAD
rs376350415	p.Glu1615Lys	missense variant	-	NC_000009.12:g.136462937C>T	ESP,ExAC,TOPMed,gnomAD
rs763490212	p.Arg1616Thr	missense variant	-	NC_000009.12:g.136462933C>G	ExAC,TOPMed,gnomAD
COSM3905702	p.Glu1617Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136462929C>G	NCI-TCGA Cosmic
rs373377796	p.Glu1619Gln	missense variant	-	NC_000009.12:g.136462925C>G	ESP,ExAC,TOPMed,gnomAD
rs373377796	p.Glu1619Lys	missense variant	-	NC_000009.12:g.136462925C>T	ESP,ExAC,TOPMed,gnomAD
rs746159821	p.Arg1620Met	missense variant	-	NC_000009.12:g.136462921C>A	ExAC,gnomAD
rs1268518537	p.Phe1621Cys	missense variant	-	NC_000009.12:g.136462918A>C	TOPMed,gnomAD
rs1390444226	p.Phe1621Leu	missense variant	-	NC_000009.12:g.136462917G>C	gnomAD
rs1393799437	p.Arg1622Lys	missense variant	-	NC_000009.12:g.136462915C>T	gnomAD
rs369871988	p.Glu1623Val	missense variant	-	NC_000009.12:g.136462912T>A	ESP,ExAC,TOPMed,gnomAD
rs1350194375	p.Glu1623Lys	missense variant	-	NC_000009.12:g.136462913C>T	TOPMed
rs1466324650	p.Leu1624Met	missense variant	-	NC_000009.12:g.136462910G>T	gnomAD
rs747114907	p.Arg1629Gly	missense variant	-	NC_000009.12:g.136462895G>C	ExAC,TOPMed,gnomAD
rs377307500	p.Arg1629His	missense variant	-	NC_000009.12:g.136462894C>T	ESP,ExAC,TOPMed,gnomAD
rs747114907	p.Arg1629Cys	missense variant	-	NC_000009.12:g.136462895G>A	ExAC,TOPMed,gnomAD
rs1382871476	p.Asp1632Asn	missense variant	-	NC_000009.12:g.136461274C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Asp1632Tyr	missense variant	-	NC_000009.12:g.136461274C>A	NCI-TCGA
rs1470034586	p.Glu1635Gln	missense variant	-	NC_000009.12:g.136461265C>G	TOPMed
rs1295420534	p.Glu1635Asp	missense variant	-	NC_000009.12:g.136461263C>A	gnomAD
rs757930985	p.Ser1636Phe	missense variant	-	NC_000009.12:g.136461261G>A	ExAC,gnomAD
rs752092696	p.Ala1637Thr	missense variant	-	NC_000009.12:g.136461259C>T	ExAC,TOPMed,gnomAD
rs375153751	p.Met1638Ile	missense variant	-	NC_000009.12:g.136461254C>T	ESP,gnomAD
rs765797378	p.Met1638Val	missense variant	-	NC_000009.12:g.136461256T>C	ExAC,gnomAD
rs766836812	p.His1645Tyr	missense variant	-	NC_000009.12:g.136461235G>A	ExAC,gnomAD
rs1209856165	p.Ala1646Thr	missense variant	-	NC_000009.12:g.136461232C>T	gnomAD
rs1209856165	p.Ala1646Pro	missense variant	-	NC_000009.12:g.136461232C>G	gnomAD
rs1270844278	p.Leu1648Pro	missense variant	-	NC_000009.12:g.136461225A>G	gnomAD
rs1427698943	p.Ala1650Gly	missense variant	-	NC_000009.12:g.136461219G>C	TOPMed
NCI-TCGA novel	p.Ala1650Thr	missense variant	-	NC_000009.12:g.136461220C>T	NCI-TCGA
rs1269445216	p.Ser1651Arg	missense variant	-	NC_000009.12:g.136461215A>T	gnomAD
rs772123976	p.Ser1651Asn	missense variant	-	NC_000009.12:g.136461216C>T	ExAC,gnomAD
rs763425163	p.Arg1656Trp	missense variant	-	NC_000009.12:g.136461202G>A	ExAC,TOPMed,gnomAD
rs769766754	p.Arg1656Gln	missense variant	-	NC_000009.12:g.136461201C>T	ExAC,gnomAD
rs769766754	p.Arg1656Pro	missense variant	-	NC_000009.12:g.136461201C>G	ExAC,gnomAD
rs1324578908	p.Thr1657Ser	missense variant	-	NC_000009.12:g.136461199T>A	TOPMed
rs1393862467	p.His1658Tyr	missense variant	-	NC_000009.12:g.136461196G>A	gnomAD
rs375805476	p.His1658Gln	missense variant	-	NC_000009.12:g.136461194G>T	ESP,ExAC,TOPMed,gnomAD
rs757046307	p.Ala1659Ser	missense variant	-	NC_000009.12:g.136461193C>A	ExAC,TOPMed,gnomAD
rs757046307	p.Ala1659Thr	missense variant	-	NC_000009.12:g.136461193C>T	ExAC,TOPMed,gnomAD
rs371441025	p.Ala1659Val	missense variant	-	NC_000009.12:g.136461192G>A	ESP,TOPMed
rs746715830	p.Arg1660Gln	missense variant	-	NC_000009.12:g.136461189C>T	ExAC,gnomAD
rs1167758719	p.Arg1660Ter	stop gained	-	NC_000009.12:g.136461190G>A	gnomAD
rs368623842	p.Val1661Leu	missense variant	-	NC_000009.12:g.136461187C>G	ESP,ExAC,gnomAD
rs1440360654	p.Phe1665Tyr	missense variant	-	NC_000009.12:g.136460121A>T	gnomAD
rs538682216	p.Asn1667Asp	missense variant	-	NC_000009.12:g.136460116T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs374828890	p.Leu1669Phe	missense variant	-	NC_000009.12:g.136460110G>A	ESP,TOPMed
rs571693482	p.Pro1670Leu	missense variant	-	NC_000009.12:g.136460106G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1237641519	p.Pro1670Ser	missense variant	-	NC_000009.12:g.136460107G>A	TOPMed
rs1161002835	p.Ile1671Val	missense variant	-	NC_000009.12:g.136460104T>C	gnomAD
rs1186889674	p.Gln1676Arg	missense variant	-	NC_000009.12:g.136460088T>C	gnomAD
rs762156089	p.Val1678Ile	missense variant	-	NC_000009.12:g.136460083C>T	ExAC,TOPMed,gnomAD
rs1216443035	p.Tyr1679His	missense variant	-	NC_000009.12:g.136460080A>G	gnomAD
rs1447637457	p.Gln1680Arg	missense variant	-	NC_000009.12:g.136460076T>C	gnomAD
rs945638001	p.Leu1681Phe	missense variant	-	NC_000009.12:g.136460074G>A	gnomAD
rs1408696723	p.Met1682Thr	missense variant	-	NC_000009.12:g.136460070A>G	gnomAD
rs1358662371	p.Met1682Ile	missense variant	-	NC_000009.12:g.136460069C>T	gnomAD
NCI-TCGA novel	p.Ser1683Phe	missense variant	-	NC_000009.12:g.136460067G>A	NCI-TCGA
rs201051805	p.Gly1684Arg	missense variant	-	NC_000009.12:g.136460065C>T	ESP,ExAC,TOPMed,gnomAD
rs201051805	p.Gly1684Ter	stop gained	-	NC_000009.12:g.136460065C>A	ESP,ExAC,TOPMed,gnomAD
rs775500259	p.Arg1685Leu	missense variant	-	NC_000009.12:g.136460061C>A	ExAC,gnomAD
rs763034804	p.Arg1685Trp	missense variant	-	NC_000009.12:g.136460062G>A	ExAC,gnomAD
rs775500259	p.Arg1685Gln	missense variant	-	NC_000009.12:g.136460061C>T	ExAC,gnomAD
NCI-TCGA novel	p.Met1686Val	missense variant	-	NC_000009.12:g.136460059T>C	NCI-TCGA
rs773116220	p.Ala1689Thr	missense variant	-	NC_000009.12:g.136460050C>T	ExAC,TOPMed,gnomAD
rs773116220	p.Ala1689Ser	missense variant	-	NC_000009.12:g.136460050C>A	ExAC,TOPMed,gnomAD
rs113207461	p.Ala1689Val	missense variant	-	NC_000009.12:g.136460049G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs778717556	p.Ser1690Pro	missense variant	-	NC_000009.12:g.136460047A>G	ExAC,gnomAD
rs768370491	p.Ser1690Cys	missense variant	-	NC_000009.12:g.136460046G>C	ExAC,gnomAD
rs372815679	p.Thr1691Met	missense variant	-	NC_000009.12:g.136460043G>A	ESP,ExAC,TOPMed,gnomAD
rs748923915	p.Cys1693Tyr	missense variant	-	NC_000009.12:g.136459870C>T	ExAC,TOPMed,gnomAD
rs748923915	p.Cys1693Phe	missense variant	-	NC_000009.12:g.136459870C>A	ExAC,TOPMed,gnomAD
rs1371056934	p.Gly1694Arg	missense variant	-	NC_000009.12:g.136459868C>T	gnomAD
NCI-TCGA novel	p.Asp1695Tyr	missense variant	-	NC_000009.12:g.136459865C>A	NCI-TCGA
NCI-TCGA novel	p.Asp1695Asn	missense variant	-	NC_000009.12:g.136459865C>T	NCI-TCGA
rs368769267	p.Glu1696Lys	missense variant	-	NC_000009.12:g.136459862C>T	ESP,TOPMed,gnomAD
rs745321461	p.Gly1699Arg	missense variant	-	NC_000009.12:g.136459853C>T	ExAC,gnomAD
rs781568267	p.Gly1699Glu	missense variant	-	NC_000009.12:g.136459852C>T	ExAC,TOPMed,gnomAD
rs757734695	p.Trp1701Arg	missense variant	-	NC_000009.12:g.136459847A>G	ExAC,gnomAD
rs899558322	p.Pro1703Leu	missense variant	-	NC_000009.12:g.136459840G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Pro1703Gln	missense variant	-	NC_000009.12:g.136459840G>T	NCI-TCGA
rs758670936	p.Ala1706Thr	missense variant	-	NC_000009.12:g.136459832C>T	ExAC,gnomAD
rs752909623	p.Met1707Val	missense variant	-	NC_000009.12:g.136459829T>C	ExAC,gnomAD
rs1400458418	p.Leu1709Val	missense variant	-	NC_000009.12:g.136459823A>C	TOPMed
rs765432468	p.Asn1711Ser	missense variant	-	NC_000009.12:g.136459816T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asn1715Ile	missense variant	-	NC_000009.12:g.136459804T>A	NCI-TCGA
rs755026021	p.Met1716Val	missense variant	-	NC_000009.12:g.136459802T>C	ExAC,TOPMed,gnomAD
rs202232995	p.Asp1717Asn	missense variant	-	NC_000009.12:g.136459799C>T	ESP,ExAC,TOPMed,gnomAD
rs202232995	p.Asp1717His	missense variant	-	NC_000009.12:g.136459799C>G	ESP,ExAC,TOPMed,gnomAD
rs774334239	p.Val1718Ile	missense variant	-	NC_000009.12:g.136459796C>T	ExAC,TOPMed,gnomAD
rs1209773614	p.Glu1719Lys	missense variant	-	NC_000009.12:g.136459793C>T	TOPMed
rs367852678	p.Thr1722Met	missense variant	-	NC_000009.12:g.136459783G>A	ESP,ExAC,TOPMed,gnomAD
rs769433798	p.Met1723Thr	missense variant	-	NC_000009.12:g.136459780A>G	ExAC,TOPMed,gnomAD
rs1390499587	p.Met1723Ile	missense variant	-	NC_000009.12:g.136459779C>T	gnomAD
COSM3929920	p.Ala1724Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136459778C>G	NCI-TCGA Cosmic
rs1314553963	p.Met1726Thr	missense variant	-	NC_000009.12:g.136459771A>G	TOPMed,gnomAD
rs1171721477	p.Asp1728Glu	missense variant	-	NC_000009.12:g.136459764G>T	gnomAD
rs1374702909	p.Asp1728Asn	missense variant	-	NC_000009.12:g.136459766C>T	gnomAD
rs1482999316	p.Ala1731Ser	missense variant	-	NC_000009.12:g.136459757C>A	gnomAD
rs1420355602	p.Arg1733Ser	missense variant	-	NC_000009.12:g.136459548C>A	gnomAD
rs777876319	p.Arg1733Trp	missense variant	-	NC_000009.12:g.136459550T>A	ExAC,TOPMed,gnomAD
rs1386603102	p.Gly1734Ser	missense variant	-	NC_000009.12:g.136459547C>T	TOPMed,gnomAD
rs1328129768	p.Leu1736Phe	missense variant	-	NC_000009.12:g.136459539C>A	TOPMed,gnomAD
rs983552207	p.Ala1738Glu	missense variant	-	NC_000009.12:g.136459534G>T	TOPMed,gnomAD
rs983552207	p.Ala1738Val	missense variant	-	NC_000009.12:g.136459534G>A	TOPMed,gnomAD
rs939757434	p.Ala1738Ser	missense variant	-	NC_000009.12:g.136459535C>A	TOPMed
rs765062864	p.Phe1741Leu	missense variant	-	NC_000009.12:g.136459524G>C	ExAC,TOPMed,gnomAD
rs759172576	p.Tyr1743His	missense variant	-	NC_000009.12:g.136459520A>G	ExAC,gnomAD
rs765956098	p.Met1745Val	missense variant	-	NC_000009.12:g.136459514T>C	ExAC,gnomAD
NCI-TCGA novel	p.Ala1746Ser	missense variant	-	NC_000009.12:g.136459511C>A	NCI-TCGA
rs369967246	p.Ala1746Thr	missense variant	-	NC_000009.12:g.136459511C>T	ESP,ExAC,TOPMed,gnomAD
rs772664424	p.Ala1746Val	missense variant	-	NC_000009.12:g.136459510G>A	ExAC,TOPMed,gnomAD
rs772607132	p.Gln1747Glu	missense variant	-	NC_000009.12:g.136459508G>C	ExAC,gnomAD
rs1197266771	p.Gln1747Arg	missense variant	-	NC_000009.12:g.136459507T>C	TOPMed,gnomAD
rs762358376	p.Ala1748Ser	missense variant	-	NC_000009.12:g.136459505C>A	ExAC,gnomAD
rs774634391	p.Ala1748Val	missense variant	-	NC_000009.12:g.136459504G>A	ExAC,TOPMed,gnomAD
rs1305790575	p.Gly1749Glu	missense variant	-	NC_000009.12:g.136459501C>T	gnomAD
rs1363107474	p.Gly1749Arg	missense variant	-	NC_000009.12:g.136459502C>T	gnomAD
rs1485167995	p.Val1752Ala	missense variant	-	NC_000009.12:g.136459492A>G	gnomAD
rs57905554	p.Thr1754Met	missense variant	-	NC_000009.12:g.136459486G>A	ExAC,gnomAD
rs780438513	p.Thr1754Ala	missense variant	-	NC_000009.12:g.136459487T>C	ExAC,gnomAD
rs1323373480	p.Lys1755Arg	missense variant	-	NC_000009.12:g.136459483T>C	TOPMed
rs758320813	p.Lys1756Ile	missense variant	-	NC_000009.12:g.136459480T>A	ExAC,gnomAD
rs781393369	p.Lys1756Glu	missense variant	-	NC_000009.12:g.136459481T>C	ExAC,gnomAD
rs748106572	p.Thr1758Ala	missense variant	-	NC_000009.12:g.136459475T>C	ExAC,gnomAD
rs1222226314	p.Thr1758Arg	missense variant	-	NC_000009.12:g.136459474G>C	TOPMed
rs1173656583	p.Leu1760Phe	missense variant	-	NC_000009.12:g.136459469G>A	gnomAD
rs753523902	p.Asn1766Ser	missense variant	-	NC_000009.12:g.136459450T>C	ExAC,gnomAD
rs776911748	p.Pro1770Arg	missense variant	-	NC_000009.12:g.136459234G>C	ExAC,gnomAD
rs776639951	p.Pro1770Ser	missense variant	-	NC_000009.12:g.136459235G>A	ExAC,gnomAD
rs771041331	p.Phe1771Ser	missense variant	-	NC_000009.12:g.136459231A>G	ExAC,gnomAD
rs1486546768	p.Phe1774Cys	missense variant	-	NC_000009.12:g.136459222A>C	gnomAD
rs778929428	p.Ala1775Thr	missense variant	-	NC_000009.12:g.136459220C>T	ExAC,gnomAD
rs1309968994	p.Thr1776Ser	missense variant	-	NC_000009.12:g.136459216G>C	TOPMed
rs1349660553	p.Asn1777Ser	missense variant	-	NC_000009.12:g.136459213T>C	TOPMed
rs749117759	p.Glu1778Asp	missense variant	-	NC_000009.12:g.136459209T>G	ExAC,gnomAD
rs770859710	p.Glu1778Lys	missense variant	-	NC_000009.12:g.136459211C>T	-
rs779801928	p.Ala1779Glu	missense variant	-	NC_000009.12:g.136459207G>T	ExAC,gnomAD
rs1351603546	p.Ile1780Val	missense variant	-	NC_000009.12:g.136459205T>C	gnomAD
COSM5113397	p.Arg1782Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136459197C>A	NCI-TCGA Cosmic
rs750071670	p.Thr1783Met	missense variant	-	NC_000009.12:g.136459195G>A	ExAC,TOPMed,gnomAD
rs756807709	p.Glu1784Lys	missense variant	-	NC_000009.12:g.136459193C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ala1789Pro	missense variant	-	NC_000009.12:g.136459178C>G	NCI-TCGA
rs923555219	p.Ala1789Thr	missense variant	-	NC_000009.12:g.136459178C>T	TOPMed,gnomAD
rs1400785161	p.Gln1790Arg	missense variant	-	NC_000009.12:g.136459174T>C	gnomAD
rs1383742166	p.Ser1791Tyr	missense variant	-	NC_000009.12:g.136459171G>T	gnomAD
rs1383742166	p.Ser1791Phe	missense variant	-	NC_000009.12:g.136459171G>A	gnomAD
rs776051456	p.Leu1792Pro	missense variant	-	NC_000009.12:g.136459168A>G	ExAC,gnomAD
rs776999704	p.Glu1795Lys	missense variant	-	NC_000009.12:g.136459160C>T	ExAC,TOPMed,gnomAD
rs747140400	p.Thr1796Ile	missense variant	-	NC_000009.12:g.136459156G>A	ExAC,TOPMed,gnomAD
rs373191908	p.Thr1796Ser	missense variant	-	NC_000009.12:g.136459157T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1207100235	p.Cys1797Ter	stop gained	-	NC_000009.12:g.136459152G>T	TOPMed,gnomAD
rs1447675341	p.Cys1797Ser	missense variant	-	NC_000009.12:g.136459154A>T	TOPMed,gnomAD
rs1447675341	p.Cys1797Arg	missense variant	-	NC_000009.12:g.136459154A>G	TOPMed,gnomAD
rs1267696529	p.Cys1797Tyr	missense variant	-	NC_000009.12:g.136459153C>T	gnomAD
rs773130461	p.Pro1798Ser	missense variant	-	NC_000009.12:g.136459151G>A	ExAC,gnomAD
NCI-TCGA novel	p.Pro1800His	missense variant	-	NC_000009.12:g.136459144G>T	NCI-TCGA
rs375988732	p.Pro1800Ala	missense variant	-	NC_000009.12:g.136459145G>C	ESP,ExAC,gnomAD
rs537637442	p.Ser1801Gly	missense variant	-	NC_000009.12:g.136459142T>C	1000Genomes,ExAC,gnomAD
rs1467297561	p.Gln1803Pro	missense variant	-	NC_000009.12:g.136459135T>G	TOPMed
rs1487697826	p.Phe1807Leu	missense variant	-	NC_000009.12:g.136457573G>C	gnomAD
COSM5163194	p.Arg1812His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136457559C>T	NCI-TCGA Cosmic
rs1341990451	p.Leu1813Met	missense variant	-	NC_000009.12:g.136457557G>T	gnomAD
rs1341990451	p.Leu1813Val	missense variant	-	NC_000009.12:g.136457557G>C	gnomAD
rs367857932	p.Ala1814Val	missense variant	-	NC_000009.12:g.136457553G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1348011833	p.Glu1815Gly	missense variant	-	NC_000009.12:g.136457550T>C	gnomAD
rs1456817243	p.Met1816Ile	missense variant	-	NC_000009.12:g.136457546C>A	TOPMed
rs1043213681	p.Ala1819Val	missense variant	-	NC_000009.12:g.136457538G>A	gnomAD
rs959251833	p.Thr1820Met	missense variant	-	NC_000009.12:g.136457535G>A	TOPMed,gnomAD
rs1453046024	p.Phe1823Leu	missense variant	-	NC_000009.12:g.136457527A>G	TOPMed
rs752198892	p.Tyr1825Ter	stop gained	-	NC_000009.12:g.136457519G>C	ExAC,gnomAD
rs1480735124	p.Cys1826Arg	missense variant	-	NC_000009.12:g.136457518A>G	TOPMed,gnomAD
rs145809910	p.Glu1827Asp	missense variant	-	NC_000009.12:g.136457513C>G	1000Genomes,ExAC,gnomAD
rs1376443714	p.Ala1828Ser	missense variant	-	NC_000009.12:g.136457512C>A	TOPMed
rs755507966	p.Ala1828Asp	missense variant	-	NC_000009.12:g.136457511G>T	ExAC,TOPMed,gnomAD
rs754274293	p.Ile1829Met	missense variant	-	NC_000009.12:g.136457507G>C	ExAC,TOPMed,gnomAD
rs1175613008	p.Ile1829Val	missense variant	-	NC_000009.12:g.136457509T>C	gnomAD
rs750614512	p.Ala1830Val	missense variant	-	NC_000009.12:g.136457505G>A	ExAC,gnomAD
rs761024052	p.Ala1830Thr	missense variant	-	NC_000009.12:g.136457506C>T	ExAC,gnomAD
rs750614512	p.Ala1830Gly	missense variant	-	NC_000009.12:g.136457505G>C	ExAC,gnomAD
rs761024052	p.Ala1830Ser	missense variant	-	NC_000009.12:g.136457506C>A	ExAC,gnomAD
rs761024052	p.Ala1830Thr	missense variant	-	NC_000009.12:g.136457506C>T	NCI-TCGA
rs553995409	p.Lys1831Gln	missense variant	-	NC_000009.12:g.136457503T>G	1000Genomes,ExAC,gnomAD
rs1027253085	p.Ile1833Thr	missense variant	-	NC_000009.12:g.136457496A>G	TOPMed
NCI-TCGA novel	p.Leu1834Met	missense variant	-	NC_000009.12:g.136457494G>T	NCI-TCGA
rs375402830	p.Thr1835Met	missense variant	-	NC_000009.12:g.136457490G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1300308040	p.Gln1836Arg	missense variant	-	NC_000009.12:g.136457487T>C	gnomAD
rs772867748	p.Pro1837Leu	missense variant	-	NC_000009.12:g.136457484G>A	ExAC,gnomAD
rs770632020	p.His1838Gln	missense variant	-	NC_000009.12:g.136457480G>T	ExAC,gnomAD
rs772756686	p.Leu1839Arg	missense variant	-	NC_000009.12:g.136457478A>C	ExAC,TOPMed,gnomAD
rs772756686	p.Leu1839Gln	missense variant	-	NC_000009.12:g.136457478A>T	ExAC,TOPMed,gnomAD
rs538205374	p.Pro1842Leu	missense variant	-	NC_000009.12:g.136457469G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs756447431	p.Leu1844Phe	missense variant	-	NC_000009.12:g.136457462C>G	ExAC,TOPMed,gnomAD
rs1174756835	p.Ile1845Val	missense variant	-	NC_000009.12:g.136457461T>C	gnomAD
rs1160143715	p.Ser1846Gly	missense variant	-	NC_000009.12:g.136457458T>C	gnomAD
rs757496613	p.Gln1847His	missense variant	-	NC_000009.12:g.136457453C>G	ExAC,gnomAD
rs1410273629	p.Val1849Leu	missense variant	-	NC_000009.12:g.136457449C>A	gnomAD
rs529797011	p.Met1851Val	missense variant	-	NC_000009.12:g.136456166T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs529797011	p.Met1851Leu	missense variant	-	NC_000009.12:g.136456166T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs771293722	p.Ser1853Phe	missense variant	-	NC_000009.12:g.136456159G>A	ExAC,gnomAD
COSM4878547	p.Arg1856Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.136456151G>A	NCI-TCGA Cosmic
rs747321543	p.Arg1856Gln	missense variant	-	NC_000009.12:g.136456150C>T	ExAC,gnomAD
rs756148425	p.Leu1857Phe	missense variant	-	NC_000009.12:g.136456148G>A	TOPMed
rs17610266	p.Phe1858Leu	missense variant	-	NC_000009.12:g.136456143G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs149545284	p.Phe1858Leu	missense variant	-	NC_000009.12:g.136456145A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs779034061	p.Asp1859His	missense variant	-	NC_000009.12:g.136456142C>G	ExAC,TOPMed,gnomAD
rs779034061	p.Asp1859Asn	missense variant	-	NC_000009.12:g.136456142C>T	ExAC,TOPMed,gnomAD
rs751362147	p.Pro1860Leu	missense variant	-	NC_000009.12:g.136456138G>A	TOPMed,gnomAD
rs1394488307	p.Gln1861Leu	missense variant	-	NC_000009.12:g.136456135T>A	TOPMed
rs750387169	p.Leu1862Pro	missense variant	-	NC_000009.12:g.136456132A>G	ExAC,gnomAD
rs1388442083	p.Pro1866Ser	missense variant	-	NC_000009.12:g.136456121G>A	TOPMed
rs1388442083	p.Pro1866Ser	missense variant	-	NC_000009.12:g.136456121G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu1867Lys	missense variant	-	NC_000009.12:g.136456118C>T	NCI-TCGA
rs761722324	p.Glu1868Lys	missense variant	-	NC_000009.12:g.136456115C>T	ExAC,gnomAD
rs751358492	p.Glu1869Lys	missense variant	-	NC_000009.12:g.136456112C>T	ExAC,gnomAD
rs369788591	p.Ser1870Cys	missense variant	-	NC_000009.12:g.136456108G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs369788591	p.Ser1870Phe	missense variant	-	NC_000009.12:g.136456108G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1234317529	p.Ala1872Asp	missense variant	-	NC_000009.12:g.136456102G>T	gnomAD
rs1231833874	p.Ala1872Ser	missense variant	-	NC_000009.12:g.136456103C>A	TOPMed
COSM4895461	p.Ala1872Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136456102G>A	NCI-TCGA Cosmic
rs138068163	p.Ala1873Thr	missense variant	-	NC_000009.12:g.136456100C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs138068163	p.Ala1873Ser	missense variant	-	NC_000009.12:g.136456100C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs138068163	p.Ala1873Pro	missense variant	-	NC_000009.12:g.136456100C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs138068163	p.Ala1873Thr	missense variant	-	NC_000009.12:g.136456100C>T	NCI-TCGA,NCI-TCGA Cosmic
rs892972459	p.Thr1875Met	missense variant	-	NC_000009.12:g.136456093G>A	TOPMed,gnomAD
COSM3905696	p.Trp1876Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136456091A>G	NCI-TCGA Cosmic
rs1212134066	p.Trp1876Ter	stop gained	-	NC_000009.12:g.136456090C>T	TOPMed
rs1472048838	p.Val1878Ile	missense variant	-	NC_000009.12:g.136456085C>T	gnomAD
NCI-TCGA novel	p.Val1878Phe	missense variant	-	NC_000009.12:g.136456085C>A	NCI-TCGA
rs1427226108	p.His1879Asn	missense variant	-	NC_000009.12:g.136456082G>T	gnomAD
rs1257839137	p.Leu1880Arg	missense variant	-	NC_000009.12:g.136456078A>C	gnomAD
rs1172784096	p.Leu1880Val	missense variant	-	NC_000009.12:g.136456079G>C	gnomAD
rs771381458	p.Gln1881Arg	missense variant	-	NC_000009.12:g.136456075T>C	ExAC,TOPMed,gnomAD
rs1472815950	p.Gln1882His	missense variant	-	NC_000009.12:g.136456071C>A	gnomAD
rs1183641094	p.Gln1882Glu	missense variant	-	NC_000009.12:g.136456073G>C	gnomAD
NCI-TCGA novel	p.Val1883Leu	missense variant	-	NC_000009.12:g.136456070C>G	NCI-TCGA
rs778173554	p.Glu1884Lys	missense variant	-	NC_000009.12:g.136456067C>T	ExAC,gnomAD
rs748393006	p.Arg1885Gln	missense variant	-	NC_000009.12:g.136456063C>T	ExAC,TOPMed,gnomAD
rs45464197	p.Arg1885Trp	missense variant	-	NC_000009.12:g.136456064G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1201115344	p.Ile1887Met	missense variant	-	NC_000009.12:g.136456056A>C	gnomAD
rs1344511016	p.Lys1888Arg	missense variant	-	NC_000009.12:g.136456054T>C	gnomAD
rs748400067	p.Ala1891Thr	missense variant	-	NC_000009.12:g.136455787C>T	ExAC,TOPMed,gnomAD
rs768958293	p.Val1893Ile	missense variant	-	NC_000009.12:g.136455781C>T	ExAC,gnomAD
COSM1106795	p.Gln1896His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136455770C>A	NCI-TCGA Cosmic
rs532287195	p.Asp1897Glu	missense variant	-	NC_000009.12:g.136455767A>C	1000Genomes,ExAC,gnomAD
rs181398018	p.Asp1897Asn	missense variant	-	NC_000009.12:g.136455769C>T	1000Genomes
rs368479046	p.Gly1898Arg	missense variant	-	NC_000009.12:g.136455766C>T	ESP,ExAC,TOPMed,gnomAD
rs757322485	p.Gly1898Glu	missense variant	-	NC_000009.12:g.136455765C>T	ExAC,TOPMed,gnomAD
rs746938982	p.Ala1899Ser	missense variant	-	NC_000009.12:g.136455763C>A	ExAC,gnomAD
rs777507267	p.Leu1900Pro	missense variant	-	NC_000009.12:g.136455759A>G	ExAC,gnomAD
rs58268999	p.Pro1901Leu	missense variant	-	NC_000009.12:g.136455756G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs758229553	p.Pro1901Thr	missense variant	-	NC_000009.12:g.136455757G>T	ExAC,TOPMed,gnomAD
rs758229553	p.Pro1901Ala	missense variant	-	NC_000009.12:g.136455757G>C	ExAC,TOPMed,gnomAD
rs1207158915	p.Gln1902Arg	missense variant	-	NC_000009.12:g.136455753T>C	gnomAD
COSM270117	p.Gln1903Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.136455751G>A	NCI-TCGA Cosmic
rs764977103	p.Gln1903His	missense variant	-	NC_000009.12:g.136455749C>G	ExAC,TOPMed,gnomAD
rs1228313865	p.Cys1904Tyr	missense variant	-	NC_000009.12:g.136455747C>T	gnomAD
rs1353644681	p.Pro1905Leu	missense variant	-	NC_000009.12:g.136455744G>A	gnomAD
COSM5120202	p.Pro1905Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136455745G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly1906Asp	missense variant	-	NC_000009.12:g.136455741C>T	NCI-TCGA
rs753400633	p.Thr1907Ile	missense variant	-	NC_000009.12:g.136455738G>A	ExAC,gnomAD
rs765866193	p.Pro1908Leu	missense variant	-	NC_000009.12:g.136455735G>A	ExAC,gnomAD
rs767862150	p.Ser1909Asn	missense variant	-	NC_000009.12:g.136455732C>T	ExAC,TOPMed,gnomAD
rs767862150	p.Ser1909Ile	missense variant	-	NC_000009.12:g.136455732C>A	ExAC,TOPMed,gnomAD
rs1350301603	p.Ser1909Arg	missense variant	-	NC_000009.12:g.136455731A>T	gnomAD
rs774548304	p.Glu1911Gln	missense variant	-	NC_000009.12:g.136455727C>G	ExAC,TOPMed,gnomAD
rs774548304	p.Glu1911Lys	missense variant	-	NC_000009.12:g.136455727C>T	ExAC,TOPMed,gnomAD
rs1421572260	p.Glu1911Asp	missense variant	-	NC_000009.12:g.136455725C>A	gnomAD
rs1367418913	p.Leu1915Phe	missense variant	-	NC_000009.12:g.136455713C>A	gnomAD
rs1193337381	p.Asp1916His	missense variant	-	NC_000009.12:g.136455712C>G	gnomAD
rs1426966224	p.Arg1917Gly	missense variant	-	NC_000009.12:g.136455709T>C	TOPMed
rs990987595	p.Gly1919Val	missense variant	-	NC_000009.12:g.136455702C>A	TOPMed,gnomAD
rs749509274	p.Leu1920Phe	missense variant	-	NC_000009.12:g.136455700G>A	ExAC,TOPMed,gnomAD
rs1431030038	p.Pro1923Ser	missense variant	-	NC_000009.12:g.136455691G>A	TOPMed
rs1221307676	p.Ala1925Ser	missense variant	-	NC_000009.12:g.136455685C>A	TOPMed,gnomAD
rs1221307676	p.Ala1925Thr	missense variant	-	NC_000009.12:g.136455685C>T	TOPMed,gnomAD
rs770000510	p.Ala1925Val	missense variant	-	NC_000009.12:g.136455684G>A	ExAC,gnomAD
rs1277424892	p.Leu1926Pro	missense variant	-	NC_000009.12:g.136455681A>G	gnomAD
rs1246184734	p.Gly1927Arg	missense variant	-	NC_000009.12:g.136455679C>G	gnomAD
rs150198392	p.Ala1929Thr	missense variant	-	NC_000009.12:g.136455673C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs150198392	p.Ala1929Thr	missense variant	-	NC_000009.12:g.136455673C>T	NCI-TCGA
rs898334245	p.Asn1930Ser	missense variant	-	NC_000009.12:g.136455669T>C	TOPMed
rs777791960	p.Leu1933Val	missense variant	-	NC_000009.12:g.136455661G>C	ExAC,gnomAD
rs748018933	p.Ala1934Val	missense variant	-	NC_000009.12:g.136455657G>A	ExAC,TOPMed,gnomAD
rs758231024	p.Ala1934Thr	missense variant	-	NC_000009.12:g.136455658C>T	ExAC,gnomAD
rs753488642	p.Ala1937Thr	missense variant	-	NC_000009.12:g.136455649C>T	NCI-TCGA
rs753488642	p.Ala1937Thr	missense variant	-	NC_000009.12:g.136455649C>T	ExAC,gnomAD
rs779621488	p.Pro1938Leu	missense variant	-	NC_000009.12:g.136455645G>A	ExAC,TOPMed,gnomAD
rs1435063692	p.Ser1939Arg	missense variant	-	NC_000009.12:g.136455641G>C	TOPMed,gnomAD
rs1166945687	p.Ser1939Asn	missense variant	-	NC_000009.12:g.136455642C>T	gnomAD
rs1426157363	p.Pro1940Ser	missense variant	-	NC_000009.12:g.136455640G>A	gnomAD
rs1230958266	p.His1942Gln	missense variant	-	NC_000009.12:g.136455632G>C	TOPMed
rs1190926995	p.His1942Tyr	missense variant	-	NC_000009.12:g.136455634G>A	gnomAD
rs200055187	p.Ser1943Leu	missense variant	-	NC_000009.12:g.136455630G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200055187	p.Ser1943Trp	missense variant	-	NC_000009.12:g.136455630G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs560896630	p.Pro1945Leu	missense variant	-	NC_000009.12:g.136455624G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs560896630	p.Pro1945Arg	missense variant	-	NC_000009.12:g.136455624G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs542602809	p.Val1947Met	missense variant	-	NC_000009.12:g.136455619C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs542602809	p.Val1947Leu	missense variant	-	NC_000009.12:g.136455619C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs542602809	p.Val1947Leu	missense variant	-	NC_000009.12:g.136455619C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1300188293	p.Arg1948Gln	missense variant	-	NC_000009.12:g.136455615C>T	gnomAD
rs376004494	p.Arg1948Trp	missense variant	-	NC_000009.12:g.136455616G>A	ESP,ExAC,TOPMed,gnomAD
rs776546726	p.Leu1950Pro	missense variant	-	NC_000009.12:g.136455609A>G	ExAC,gnomAD
rs1168180491	p.Pro1951His	missense variant	-	NC_000009.12:g.136455606G>T	TOPMed
rs772099975	p.Ala1953Thr	missense variant	-	NC_000009.12:g.136455601C>T	ExAC,gnomAD
rs768537955	p.Pro1954Ser	missense variant	-	NC_000009.12:g.136454325G>A	ExAC,gnomAD
rs749120025	p.Pro1954Leu	missense variant	-	NC_000009.12:g.136454324G>A	ExAC,TOPMed,gnomAD
rs1248288005	p.Gln1955His	missense variant	-	NC_000009.12:g.136454320C>G	gnomAD
rs201805134	p.Thr1956Met	missense variant	-	NC_000009.12:g.136454318G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs533127181	p.Gly1960Arg	missense variant	-	NC_000009.12:g.136454307C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs533127181	p.Gly1960Cys	missense variant	-	NC_000009.12:g.136454307C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs533127181	p.Gly1960Ser	missense variant	-	NC_000009.12:g.136454307C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1322399058	p.Gly1960Asp	missense variant	-	NC_000009.12:g.136454306C>T	gnomAD
rs1322399058	p.Gly1960Val	missense variant	-	NC_000009.12:g.136454306C>A	gnomAD
rs1312012420	p.Pro1961Ser	missense variant	-	NC_000009.12:g.136454304G>A	gnomAD
rs79974534	p.Ala1963Val	missense variant	-	NC_000009.12:g.136454297G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1321499136	p.Pro1965Ser	missense variant	-	NC_000009.12:g.136454292G>A	TOPMed,gnomAD
rs1321499136	p.Pro1965Thr	missense variant	-	NC_000009.12:g.136454292G>T	TOPMed,gnomAD
rs1025429889	p.Pro1969Arg	missense variant	-	NC_000009.12:g.136454279G>C	TOPMed,gnomAD
rs1025429889	p.Pro1969Leu	missense variant	-	NC_000009.12:g.136454279G>A	TOPMed,gnomAD
rs753165475	p.Met1970Val	missense variant	-	NC_000009.12:g.136454277T>C	ExAC,gnomAD
rs1368416512	p.Met1970Thr	missense variant	-	NC_000009.12:g.136454276A>G	TOPMed,gnomAD
rs765509375	p.Met1970Ile	missense variant	-	NC_000009.12:g.136454275C>A	ExAC,gnomAD
rs753165475	p.Met1970Leu	missense variant	-	NC_000009.12:g.136454277T>G	ExAC,gnomAD
COSM4849353	p.Pro1974Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136454264G>A	NCI-TCGA Cosmic
rs529389335	p.Pro1976Arg	missense variant	-	NC_000009.12:g.136454258G>C	1000Genomes,ExAC,gnomAD
rs187124099	p.Pro1977Leu	missense variant	-	NC_000009.12:g.136454255G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs866266711	p.Gly1978Val	missense variant	-	NC_000009.12:g.136454252C>A	TOPMed,gnomAD
rs866266711	p.Gly1978Glu	missense variant	-	NC_000009.12:g.136454252C>T	TOPMed,gnomAD
rs773243663	p.Pro1979Arg	missense variant	-	NC_000009.12:g.136454249G>C	ExAC,gnomAD
NCI-TCGA novel	p.Leu1980Met	missense variant	-	NC_000009.12:g.136454247G>T	NCI-TCGA
rs867374832	p.Glu1981Asp	missense variant	-	NC_000009.12:g.136454242C>A	TOPMed,gnomAD
rs762863494	p.Glu1981Lys	missense variant	-	NC_000009.12:g.136454244C>T	ExAC,gnomAD
rs1303792618	p.Pro1982Ser	missense variant	-	NC_000009.12:g.136454241G>A	TOPMed,gnomAD
rs775330433	p.Pro1982Leu	missense variant	-	NC_000009.12:g.136454240G>A	ExAC,TOPMed,gnomAD
rs1001853612	p.Gly1983Arg	missense variant	-	NC_000009.12:g.136454238C>G	gnomAD
rs1001853612	p.Gly1983Ser	missense variant	-	NC_000009.12:g.136454238C>T	gnomAD
rs1006237082	p.Pro1984Ala	missense variant	-	NC_000009.12:g.136454235G>C	TOPMed,gnomAD
rs1006237082	p.Pro1984Ser	missense variant	-	NC_000009.12:g.136454235G>A	TOPMed,gnomAD
rs1167568764	p.Cys1986Tyr	missense variant	-	NC_000009.12:g.136454228C>T	gnomAD
rs1474183553	p.Thr1988Ile	missense variant	-	NC_000009.12:g.136454222G>A	gnomAD
rs1199243422	p.Pro1989Leu	missense variant	-	NC_000009.12:g.136454219G>A	gnomAD
rs776171898	p.Gly1990Ala	missense variant	-	NC_000009.12:g.136454216C>G	ExAC,TOPMed,gnomAD
rs776171898	p.Gly1990Glu	missense variant	-	NC_000009.12:g.136454216C>T	ExAC,TOPMed,gnomAD
rs998208399	p.Ala1992Val	missense variant	-	NC_000009.12:g.136454210G>A	TOPMed
rs371307879	p.Ala1992Ser	missense variant	-	NC_000009.12:g.136454211C>A	ESP,ExAC,TOPMed,gnomAD
rs1484067722	p.Leu1993Val	missense variant	-	NC_000009.12:g.136454208G>C	gnomAD
NCI-TCGA novel	p.Phe1995Leu	missense variant	-	NC_000009.12:g.136454200G>T	NCI-TCGA
rs759036202	p.Leu1996Pro	missense variant	-	NC_000009.12:g.136454198A>G	ExAC,gnomAD
rs1258021834	p.Pro1998Ser	missense variant	-	NC_000009.12:g.136454193G>A	TOPMed,gnomAD
rs779414549	p.Gly2000Arg	missense variant	-	NC_000009.12:g.136454187C>T	ExAC,TOPMed,gnomAD
rs779414549	p.Gly2000Trp	missense variant	-	NC_000009.12:g.136454187C>A	ExAC,TOPMed,gnomAD
rs910863545	p.Leu2003Phe	missense variant	-	NC_000009.12:g.136454178G>A	TOPMed,gnomAD
rs910863545	p.Leu2003Ile	missense variant	-	NC_000009.12:g.136454178G>T	TOPMed,gnomAD
rs1465036518	p.Pro2005His	missense variant	-	NC_000009.12:g.136454171G>T	TOPMed
rs1306808497	p.Gly2006Ala	missense variant	-	NC_000009.12:g.136454168C>G	gnomAD
rs1300261532	p.Gly2006Ser	missense variant	-	NC_000009.12:g.136454169C>T	TOPMed
rs1306808497	p.Gly2006Asp	missense variant	-	NC_000009.12:g.136454168C>T	gnomAD
rs1407734617	p.Leu2010Met	missense variant	-	NC_000009.12:g.136454157G>T	gnomAD
rs1378164975	p.Leu2010Pro	missense variant	-	NC_000009.12:g.136454156A>G	TOPMed
rs1403854194	p.Gln2011Ter	stop gained	-	NC_000009.12:g.136454154G>A	gnomAD
rs1446257928	p.Arg2014Thr	missense variant	-	NC_000009.12:g.136454144C>G	TOPMed
rs1427009497	p.His2015Tyr	missense variant	-	NC_000009.12:g.136454142G>A	gnomAD
rs754188374	p.Gln2018Arg	missense variant	-	NC_000009.12:g.136454132T>C	ExAC,gnomAD
rs1053553428	p.Ser2022Asn	missense variant	-	NC_000009.12:g.136454120C>T	TOPMed,gnomAD
rs1373197814	p.Ser2022Arg	missense variant	-	NC_000009.12:g.136454121T>G	TOPMed
rs1053553428	p.Ser2022Thr	missense variant	-	NC_000009.12:g.136454120C>G	TOPMed,gnomAD
rs1053553428	p.Ser2022Ile	missense variant	-	NC_000009.12:g.136454120C>A	TOPMed,gnomAD
rs1310360973	p.Asp2024Tyr	missense variant	-	NC_000009.12:g.136454115C>A	TOPMed
rs1261587320	p.Pro2025Leu	missense variant	-	NC_000009.12:g.136454111G>A	TOPMed,gnomAD
rs1344748257	p.Pro2025Ser	missense variant	-	NC_000009.12:g.136454112G>A	TOPMed,gnomAD
rs1050406033	p.Gly2026Arg	missense variant	-	NC_000009.12:g.136454109C>T	TOPMed,gnomAD
rs1050406033	p.Gly2026Trp	missense variant	-	NC_000009.12:g.136454109C>A	TOPMed,gnomAD
rs1356706152	p.Ile2027Leu	missense variant	-	NC_000009.12:g.136453508T>A	gnomAD
rs1249749630	p.Ile2027Met	missense variant	-	NC_000009.12:g.136453506T>C	gnomAD
rs1425366978	p.Pro2029Ser	missense variant	-	NC_000009.12:g.136453502G>A	TOPMed
rs202042941	p.Pro2029Gln	missense variant	-	NC_000009.12:g.136453501G>T	ESP,ExAC,TOPMed,gnomAD
rs202042941	p.Pro2029Leu	missense variant	-	NC_000009.12:g.136453501G>A	ESP,ExAC,TOPMed,gnomAD
rs1364019605	p.Ala2032Val	missense variant	-	NC_000009.12:g.136453492G>A	gnomAD
rs773017219	p.Ser2037Pro	missense variant	-	NC_000009.12:g.136453478A>G	ExAC,gnomAD
NCI-TCGA novel	p.Leu2038Phe	missense variant	-	NC_000009.12:g.136453475G>A	NCI-TCGA
rs896234953	p.Ser2039Cys	missense variant	-	NC_000009.12:g.136453471G>C	TOPMed,gnomAD
rs370992876	p.Glu2040Lys	missense variant	-	NC_000009.12:g.136453469C>T	ESP,ExAC,gnomAD
rs1170712798	p.Leu2041Ile	missense variant	-	NC_000009.12:g.136453466G>T	gnomAD
rs373011807	p.Glu2043Lys	missense variant	-	NC_000009.12:g.136453460C>T	ESP,ExAC,TOPMed,gnomAD
COSM1106791	p.Glu2044Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.136453457C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu2044Asp	missense variant	-	NC_000009.12:g.136453455T>G	NCI-TCGA
NCI-TCGA novel	p.Phe2046Cys	missense variant	-	NC_000009.12:g.136453450A>C	NCI-TCGA
rs200814626	p.Asp2047Val	missense variant	-	NC_000009.12:g.136453447T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1199403000	p.Gly2048Arg	missense variant	-	NC_000009.12:g.136453445C>T	gnomAD
rs780357410	p.Gly2048Glu	missense variant	-	NC_000009.12:g.136453444C>T	ExAC,gnomAD
NCI-TCGA novel	p.Lys2049Gln	missense variant	-	NC_000009.12:g.136453442T>G	NCI-TCGA
rs1048991462	p.Ala2051Val	missense variant	-	NC_000009.12:g.136453435G>A	TOPMed
NCI-TCGA novel	p.Ala2051Thr	missense variant	-	NC_000009.12:g.136453436C>T	NCI-TCGA
rs770157160	p.Asn2052Lys	missense variant	-	NC_000009.12:g.136453431A>T	ExAC,gnomAD
rs746181909	p.Leu2053Val	missense variant	-	NC_000009.12:g.136453430G>C	ExAC,gnomAD
rs780177096	p.Thr2054Asn	missense variant	-	NC_000009.12:g.136451407G>T	ExAC,gnomAD
NCI-TCGA novel	p.Pro2055His	missense variant	-	NC_000009.12:g.136451404G>T	NCI-TCGA
rs756095229	p.Ser2056Leu	missense variant	-	NC_000009.12:g.136451401G>A	ExAC,gnomAD
rs45519739	p.Thr2058Met	missense variant	-	NC_000009.12:g.136451395G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs751237063	p.Val2059Leu	missense variant	-	NC_000009.12:g.136451393C>G	ExAC,gnomAD
rs1280437927	p.Pro2060Arg	missense variant	-	NC_000009.12:g.136451389G>C	TOPMed
rs558511058	p.Asp2061Gly	missense variant	-	NC_000009.12:g.136451386T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs190567329	p.Ser2062Leu	missense variant	-	NC_000009.12:g.136451383G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1324585829	p.Glu2063Ala	missense variant	-	NC_000009.12:g.136451380T>G	TOPMed
rs765784078	p.Glu2063Gln	missense variant	-	NC_000009.12:g.136451381C>G	ExAC,TOPMed,gnomAD
rs760025987	p.Ala2064Val	missense variant	-	NC_000009.12:g.136451377G>A	ExAC,gnomAD
rs1276657085	p.Ala2064Pro	missense variant	-	NC_000009.12:g.136451378C>G	TOPMed
NCI-TCGA novel	p.Ala2064Thr	missense variant	-	NC_000009.12:g.136451378C>T	NCI-TCGA
rs760025987	p.Ala2064Asp	missense variant	-	NC_000009.12:g.136451377G>T	ExAC,gnomAD
rs1383754360	p.Pro2065Leu	missense variant	-	NC_000009.12:g.136451374G>A	gnomAD
rs371968605	p.Pro2065Ser	missense variant	-	NC_000009.12:g.136451375G>A	ESP,ExAC,TOPMed,gnomAD
rs748305074	p.Pro2066Ala	missense variant	-	NC_000009.12:g.136451372G>C	ExAC,gnomAD
rs779120151	p.Pro2066Arg	missense variant	-	NC_000009.12:g.136451371G>C	ExAC,TOPMed,gnomAD
rs748305074	p.Pro2066Ser	missense variant	-	NC_000009.12:g.136451372G>A	ExAC,gnomAD
rs779120151	p.Pro2066Leu	missense variant	-	NC_000009.12:g.136451371G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro2066GlnPheSerTerUnkUnk	frameshift	-	NC_000009.12:g.136451371G>-	NCI-TCGA
rs1453587528	p.Gly2067Val	missense variant	-	NC_000009.12:g.136451368C>A	gnomAD
rs1321799237	p.Gly2067Arg	missense variant	-	NC_000009.12:g.136451369C>T	gnomAD
COSM5170944	p.Asp2069Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136451362T>C	NCI-TCGA Cosmic
rs368640368	p.Asp2069Asn	missense variant	-	NC_000009.12:g.136451363C>T	ESP,ExAC,TOPMed,gnomAD
rs371962258	p.Arg2070His	missense variant	-	NC_000009.12:g.136451359C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs376784867	p.Arg2070Cys	missense variant	-	NC_000009.12:g.136451360G>A	ESP,ExAC,TOPMed,gnomAD
rs529388073	p.Ala2071Val	missense variant	-	NC_000009.12:g.136451356G>A	ExAC,TOPMed,gnomAD
rs1204348769	p.Asp2072Glu	missense variant	-	NC_000009.12:g.136451352G>T	gnomAD
rs563339981	p.Asp2072Asn	missense variant	-	NC_000009.12:g.136451354C>T	ExAC,TOPMed,gnomAD
rs768367463	p.Ser2073Trp	missense variant	-	NC_000009.12:g.136451350G>C	ExAC,TOPMed,gnomAD
rs768367463	p.Ser2073Leu	missense variant	-	NC_000009.12:g.136451350G>A	ExAC,TOPMed,gnomAD
rs760099669	p.Thr2076Arg	missense variant	-	NC_000009.12:g.136451341G>C	ExAC,TOPMed,gnomAD
rs760099669	p.Thr2076Met	missense variant	-	NC_000009.12:g.136451341G>A	ExAC,TOPMed,gnomAD
rs1314613051	p.Gln2077Lys	missense variant	-	NC_000009.12:g.136451339G>T	gnomAD
rs1244138061	p.Pro2079Thr	missense variant	-	NC_000009.12:g.136451333G>T	gnomAD
rs1380718509	p.Leu2082Phe	missense variant	-	NC_000009.12:g.136451324G>A	gnomAD
rs1367620366	p.Ser2083Leu	missense variant	-	NC_000009.12:g.136451320G>A	TOPMed,gnomAD
rs1296664994	p.Pro2084Thr	missense variant	-	NC_000009.12:g.136451318G>T	gnomAD
rs370580753	p.Ala2085Pro	missense variant	-	NC_000009.12:g.136451315C>G	ExAC,TOPMed,gnomAD
rs370580753	p.Ala2085Thr	missense variant	-	NC_000009.12:g.136451315C>T	ExAC,TOPMed,gnomAD
rs771846398	p.Ala2085Val	missense variant	-	NC_000009.12:g.136451314G>A	ExAC,gnomAD
rs774356729	p.Glu2087Lys	missense variant	-	NC_000009.12:g.136451309C>T	ExAC,TOPMed,gnomAD
rs1161137770	p.Glu2087Val	missense variant	-	NC_000009.12:g.136451308T>A	gnomAD
rs1431193477	p.Thr2088Arg	missense variant	-	NC_000009.12:g.136451305G>C	gnomAD
rs768702938	p.Lys2089Gln	missense variant	-	NC_000009.12:g.136451303T>G	ExAC,TOPMed,gnomAD
rs768702938	p.Lys2089Glu	missense variant	-	NC_000009.12:g.136451303T>C	ExAC,TOPMed,gnomAD
rs749288071	p.Arg2090Lys	missense variant	-	NC_000009.12:g.136451299C>T	ExAC
rs781301621	p.Pro2091Ser	missense variant	-	NC_000009.12:g.136451297G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly2092Glu	missense variant	-	NC_000009.12:g.136451293C>T	NCI-TCGA
rs747203873	p.Gly2092Arg	missense variant	-	NC_000009.12:g.136451294C>T	ExAC,TOPMed,gnomAD
rs1490532145	p.Gln2093His	missense variant	-	NC_000009.12:g.136451289C>G	gnomAD
rs777869421	p.Ala2094Thr	missense variant	-	NC_000009.12:g.136451288C>T	ExAC,TOPMed,gnomAD
rs1390096384	p.Lys2096Thr	missense variant	-	NC_000009.12:g.136451281T>G	TOPMed
rs753052677	p.Lys2096Gln	missense variant	-	NC_000009.12:g.136451282T>G	ExAC,gnomAD
rs779305069	p.Lys2097Glu	missense variant	-	NC_000009.12:g.136451279T>C	ExAC,gnomAD
rs755452564	p.Lys2097Arg	missense variant	-	NC_000009.12:g.136451278T>C	ExAC,gnomAD
rs1325112644	p.Glu2098Gly	missense variant	-	NC_000009.12:g.136451275T>C	TOPMed,gnomAD
rs1304046989	p.Thr2099Met	missense variant	-	NC_000009.12:g.136451272G>A	gnomAD
NCI-TCGA novel	p.Lys2100Asn	missense variant	-	NC_000009.12:g.136451268C>A	NCI-TCGA
NCI-TCGA novel	p.Lys2100Arg	missense variant	-	NC_000009.12:g.136451269T>C	NCI-TCGA
rs765868709	p.Lys2103Thr	missense variant	-	NC_000009.12:g.136451260T>G	ExAC,gnomAD
rs760119742	p.Lys2103Asn	missense variant	-	NC_000009.12:g.136451259C>G	ExAC,TOPMed,gnomAD
rs1321851013	p.Lys2104Glu	missense variant	-	NC_000009.12:g.136451258T>C	TOPMed
rs1309161851	p.Phe2110Leu	missense variant	-	NC_000009.12:g.136448144A>T	TOPMed,gnomAD
rs182435046	p.Arg2111Leu	missense variant	-	NC_000009.12:g.136448142C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1224436425	p.Arg2111Cys	missense variant	-	NC_000009.12:g.136448143G>A	gnomAD
rs182435046	p.Arg2111His	missense variant	-	NC_000009.12:g.136448142C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1376077720	p.Pro2114Ser	missense variant	-	NC_000009.12:g.136448134G>A	TOPMed
NCI-TCGA novel	p.Lys2116Asn	missense variant	-	NC_000009.12:g.136448126C>A	NCI-TCGA
rs1444221239	p.Lys2117Arg	missense variant	-	NC_000009.12:g.136448124T>C	TOPMed
rs1454907497	p.Lys2118Arg	missense variant	-	NC_000009.12:g.136448121T>C	gnomAD
rs958197966	p.Glu2120Gln	missense variant	-	NC_000009.12:g.136448116C>G	TOPMed,gnomAD
rs201354052	p.Ala2121Val	missense variant	-	NC_000009.12:g.136448112G>A	ESP,ExAC,TOPMed,gnomAD
rs1159139724	p.Asp2125His	missense variant	-	NC_000009.12:g.136448101C>G	gnomAD
rs1418039783	p.Asp2126Asn	missense variant	-	NC_000009.12:g.136448098C>T	gnomAD
rs1405314341	p.Ser2130Leu	missense variant	-	NC_000009.12:g.136448085G>A	gnomAD
rs773874146	p.Asn2138Ile	missense variant	-	NC_000009.12:g.136447887T>A	ExAC,TOPMed,gnomAD
rs773874146	p.Asn2138Ser	missense variant	-	NC_000009.12:g.136447887T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Trp2140Cys	missense variant	-	NC_000009.12:g.136447880C>G	NCI-TCGA
rs771421215	p.Leu2143Ter	stop gained	-	NC_000009.12:g.136447872A>C	ExAC,gnomAD
rs979188595	p.Glu2145Val	missense variant	-	NC_000009.12:g.136447866T>A	TOPMed,gnomAD
rs747693132	p.Pro2146Leu	missense variant	-	NC_000009.12:g.136447863G>A	ExAC,TOPMed,gnomAD
rs752806806	p.Lys2151Asn	missense variant	-	NC_000009.12:g.136447675T>A	ExAC,gnomAD
rs765281199	p.Ala2152Pro	missense variant	-	NC_000009.12:g.136447674C>G	ExAC,gnomAD
rs765281199	p.Ala2152Thr	missense variant	-	NC_000009.12:g.136447674C>T	ExAC,gnomAD
rs1377073825	p.Pro2153Ser	missense variant	-	NC_000009.12:g.136447671G>A	gnomAD
rs373660630	p.Pro2153Leu	missense variant	-	NC_000009.12:g.136447670G>A	ExAC,TOPMed,gnomAD
rs929399438	p.Pro2154Ala	missense variant	-	NC_000009.12:g.136447668G>C	TOPMed,gnomAD
rs773519355	p.Pro2155Gln	missense variant	-	NC_000009.12:g.136447664G>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro2155HisPheSerTerUnkUnk	frameshift	-	NC_000009.12:g.136447664G>-	NCI-TCGA
rs773519355	p.Pro2155Arg	missense variant	-	NC_000009.12:g.136447664G>C	ExAC,TOPMed,gnomAD
rs1456762922	p.Pro2156Ser	missense variant	-	NC_000009.12:g.136447662G>A	gnomAD
rs762279463	p.Pro2156Leu	missense variant	-	NC_000009.12:g.136447661G>A	ExAC,gnomAD
rs762279463	p.Pro2156Arg	missense variant	-	NC_000009.12:g.136447661G>C	ExAC,gnomAD
rs897899440	p.Thr2158Ile	missense variant	-	NC_000009.12:g.136447655G>A	TOPMed
rs773883647	p.Ser2159Leu	missense variant	-	NC_000009.12:g.136447652G>A	ExAC,TOPMed,gnomAD
rs1270199215	p.Ser2159Pro	missense variant	-	NC_000009.12:g.136447653A>G	TOPMed,gnomAD
rs1272526954	p.Met2160Thr	missense variant	-	NC_000009.12:g.136447649A>G	gnomAD
rs1328799354	p.Pro2161Ser	missense variant	-	NC_000009.12:g.136447647G>A	gnomAD
rs757812542	p.Lys2162Gln	missense variant	-	NC_000009.12:g.136447644T>G	ExAC,TOPMed,gnomAD
rs1335955741	p.Val2164Leu	missense variant	-	NC_000009.12:g.136447638C>G	TOPMed,gnomAD
rs35292575	p.Ala2166Asp	missense variant	-	NC_000009.12:g.136447631G>T	1000Genomes,ExAC,gnomAD
rs35292575	p.Ala2166Val	missense variant	-	NC_000009.12:g.136447631G>A	1000Genomes,ExAC,gnomAD
rs370335440	p.Pro2168Leu	missense variant	-	NC_000009.12:g.136447625G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200690545	p.Ala2170Val	missense variant	-	NC_000009.12:g.136447619G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro2175Ser	missense variant	-	NC_000009.12:g.136447605G>A	NCI-TCGA
rs369288224	p.Gly2176Glu	missense variant	-	NC_000009.12:g.136447601C>T	ESP,TOPMed,gnomAD
rs1400830836	p.Pro2178Ser	missense variant	-	NC_000009.12:g.136447596G>A	TOPMed
rs199835518	p.Pro2178Leu	missense variant	-	NC_000009.12:g.136447595G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs750782509	p.Val2179Met	missense variant	-	NC_000009.12:g.136447593C>T	ExAC,TOPMed,gnomAD
rs762344246	p.Met2181Arg	missense variant	-	NC_000009.12:g.136447586A>C	ExAC,gnomAD
rs762344246	p.Met2181Thr	missense variant	-	NC_000009.12:g.136447586A>G	ExAC,gnomAD
rs1461232617	p.Met2181Val	missense variant	-	NC_000009.12:g.136447587T>C	gnomAD
NCI-TCGA novel	p.Tyr2182Cys	missense variant	-	NC_000009.12:g.136447583T>C	NCI-TCGA
rs1447899172	p.Tyr2182His	missense variant	-	NC_000009.12:g.136447584A>G	TOPMed
rs774744505	p.Ser2183Tyr	missense variant	-	NC_000009.12:g.136447580G>T	ExAC,gnomAD
rs774744505	p.Ser2183Phe	missense variant	-	NC_000009.12:g.136447580G>A	ExAC,gnomAD
rs1391061184	p.Arg2185Gly	missense variant	-	NC_000009.12:g.136447575T>C	gnomAD
rs763536459	p.Ala2187Thr	missense variant	-	NC_000009.12:g.136447569C>T	ExAC,gnomAD
NCI-TCGA novel	p.Arg2192Pro	missense variant	-	NC_000009.12:g.136447349C>G	NCI-TCGA
rs763509450	p.Arg2192Cys	missense variant	-	NC_000009.12:g.136447350G>A	ExAC,gnomAD
rs752180026	p.Arg2192His	missense variant	-	NC_000009.12:g.136447349C>T	ExAC,TOPMed,gnomAD
rs1170587442	p.Tyr2193Phe	missense variant	-	NC_000009.12:g.136447346T>A	TOPMed
NCI-TCGA novel	p.Tyr2193Cys	missense variant	-	NC_000009.12:g.136447346T>C	NCI-TCGA
rs776167624	p.Val2194Ile	missense variant	-	NC_000009.12:g.136447344C>T	ExAC,TOPMed,gnomAD
rs770699883	p.Val2194Ala	missense variant	-	NC_000009.12:g.136447343A>G	ExAC,TOPMed,gnomAD
rs1190841856	p.Val2196Phe	missense variant	-	NC_000009.12:g.136447338C>A	gnomAD
rs1190841856	p.Val2196Ile	missense variant	-	NC_000009.12:g.136447338C>T	gnomAD
rs1269150452	p.Pro2199Leu	missense variant	-	NC_000009.12:g.136447328G>A	gnomAD
rs1274797489	p.Gly2201Glu	missense variant	-	NC_000009.12:g.136447322C>T	gnomAD
rs748140921	p.Gly2201Arg	missense variant	-	NC_000009.12:g.136447323C>T	ExAC,TOPMed,gnomAD
rs755075828	p.Thr2202MetTyrGlyArgAspGlyArgTerAsnAla	stop gained	-	NC_000009.12:g.136447319_136447320insCATTCTACCTTCCGTCTCTACCATACA	ExAC
rs566014350	p.Gln2203Pro	missense variant	-	NC_000009.12:g.136447316T>G	1000Genomes,ExAC,gnomAD
rs746045861	p.Arg2204Pro	missense variant	-	NC_000009.12:g.136447313C>G	ExAC,TOPMed,gnomAD
rs1276158240	p.Arg2204Trp	missense variant	-	NC_000009.12:g.136447314G>A	TOPMed
rs746045861	p.Arg2204Gln	missense variant	-	NC_000009.12:g.136447313C>T	ExAC,TOPMed,gnomAD
rs1216856225	p.Ser2205Ile	missense variant	-	NC_000009.12:g.136447310C>A	gnomAD
rs781275551	p.Glu2206Lys	missense variant	-	NC_000009.12:g.136447308C>T	ExAC,TOPMed,gnomAD
COSM1489808	p.Pro2207Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136447305G>A	NCI-TCGA Cosmic
rs992351347	p.Pro2207Leu	missense variant	-	NC_000009.12:g.136447304G>A	TOPMed,gnomAD
rs1331247583	p.Ala2208Ser	missense variant	-	NC_000009.12:g.136447302C>A	gnomAD
rs960485796	p.Leu2209Val	missense variant	-	NC_000009.12:g.136447299G>C	TOPMed,gnomAD
rs554187066	p.Ala2210Thr	missense variant	-	NC_000009.12:g.136447296C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1481707790	p.Pro2211Ser	missense variant	-	NC_000009.12:g.136447293G>A	gnomAD
rs778158049	p.Ala2212Val	missense variant	-	NC_000009.12:g.136447289G>A	ExAC,TOPMed,gnomAD
rs1426098945	p.Asp2213Tyr	missense variant	-	NC_000009.12:g.136447287C>A	TOPMed
rs758871413	p.Asp2213Glu	missense variant	-	NC_000009.12:g.136447285G>C	ExAC,TOPMed,gnomAD
rs758871413	p.Asp2213Glu	missense variant	-	NC_000009.12:g.136447285G>T	ExAC,TOPMed,gnomAD
rs1368221625	p.Phe2214Leu	missense variant	-	NC_000009.12:g.136447282A>C	TOPMed
rs1234293141	p.Val2215Ile	missense variant	-	NC_000009.12:g.136447281C>T	gnomAD
rs535521645	p.Ala2216Thr	missense variant	-	NC_000009.12:g.136447278C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs535521645	p.Ala2216Pro	missense variant	-	NC_000009.12:g.136447278C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs370881814	p.Pro2217Ser	missense variant	-	NC_000009.12:g.136447275G>A	ESP,ExAC,TOPMed,gnomAD
rs375952382	p.Ala2219Thr	missense variant	-	NC_000009.12:g.136447269C>T	ESP,ExAC,TOPMed,gnomAD
rs765940476	p.Ala2219Gly	missense variant	-	NC_000009.12:g.136447268G>C	ExAC,TOPMed,gnomAD
rs765940476	p.Ala2219Glu	missense variant	-	NC_000009.12:g.136447268G>T	ExAC,TOPMed,gnomAD
rs765940476	p.Ala2219Val	missense variant	-	NC_000009.12:g.136447268G>A	ExAC,TOPMed,gnomAD
rs760427469	p.Pro2220Thr	missense variant	-	NC_000009.12:g.136447266G>T	ExAC,gnomAD
rs1319700472	p.Leu2221Phe	missense variant	-	NC_000009.12:g.136447263G>A	TOPMed
rs1443370030	p.Pro2222Leu	missense variant	-	NC_000009.12:g.136447259G>A	TOPMed,gnomAD
rs118049182	p.Ile2223Val	missense variant	-	NC_000009.12:g.136447257T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs118049182	p.Ile2223Phe	missense variant	-	NC_000009.12:g.136447257T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1352567437	p.Pro2224Leu	missense variant	-	NC_000009.12:g.136447253G>A	TOPMed
rs1018940225	p.Asn2226Lys	missense variant	-	NC_000009.12:g.136447246G>C	TOPMed,gnomAD
rs201162968	p.Asn2226Asp	missense variant	-	NC_000009.12:g.136447248T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs761797624	p.Phe2228Leu	missense variant	-	NC_000009.12:g.136447242A>G	ExAC,gnomAD
rs531904062	p.Val2229Met	missense variant	-	NC_000009.12:g.136447239C>T	1000Genomes,ExAC,gnomAD
rs531904062	p.Val2229Leu	missense variant	-	NC_000009.12:g.136447239C>G	1000Genomes,ExAC,gnomAD
rs1438703759	p.Thr2231Ile	missense variant	-	NC_000009.12:g.136447232G>A	gnomAD
rs1236075751	p.Pro2232Ser	missense variant	-	NC_000009.12:g.136447230G>A	gnomAD
rs1330204930	p.Asp2233Gly	missense variant	-	NC_000009.12:g.136446949T>C	gnomAD
rs774542326	p.Asp2233Glu	missense variant	-	NC_000009.12:g.136446948A>T	ExAC,gnomAD
rs1463376044	p.Ala2234Gly	missense variant	-	NC_000009.12:g.136446946G>C	gnomAD
rs374136015	p.Glu2235Lys	missense variant	-	NC_000009.12:g.136446944C>T	ESP,ExAC,TOPMed,gnomAD
rs369714442	p.Pro2237Ala	missense variant	-	NC_000009.12:g.136446938G>C	ESP,ExAC,TOPMed
rs557969470	p.Gly2242Arg	missense variant	-	NC_000009.12:g.136446923C>T	1000Genomes,ExAC,gnomAD
rs1020406057	p.Arg2245Lys	missense variant	-	NC_000009.12:g.136446913C>T	TOPMed,gnomAD
rs1201716760	p.Glu2246Gly	missense variant	-	NC_000009.12:g.136446910T>C	gnomAD
rs546048494	p.Gly2247Glu	missense variant	-	NC_000009.12:g.136446907C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs745358501	p.Gly2247Arg	missense variant	-	NC_000009.12:g.136446908C>T	ExAC,TOPMed,gnomAD
rs546048494	p.Gly2247Ala	missense variant	-	NC_000009.12:g.136446907C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1267107853	p.Pro2248Leu	missense variant	-	NC_000009.12:g.136446904G>A	TOPMed
rs751253581	p.Ala2249Thr	missense variant	-	NC_000009.12:g.136446902C>T	ExAC,gnomAD
rs572245522	p.Ala2249Val	missense variant	-	NC_000009.12:g.136446901G>A	TOPMed,gnomAD
rs758225467	p.Ala2250Val	missense variant	-	NC_000009.12:g.136446898G>A	ExAC,gnomAD
rs777383094	p.Ala2250Pro	missense variant	-	NC_000009.12:g.136446899C>G	ExAC,gnomAD
rs752506014	p.Arg2252Gly	missense variant	-	NC_000009.12:g.136446893T>C	ExAC,TOPMed,gnomAD
rs896059806	p.Gly2253Ala	missense variant	-	NC_000009.12:g.136446889C>G	TOPMed,gnomAD
rs896059806	p.Gly2253Asp	missense variant	-	NC_000009.12:g.136446889C>T	TOPMed,gnomAD
rs896059806	p.Gly2253Val	missense variant	-	NC_000009.12:g.136446889C>A	TOPMed,gnomAD
rs1316610543	p.Gly2253Ser	missense variant	-	NC_000009.12:g.136446890C>T	gnomAD
rs1233388908	p.Ala2255Gly	missense variant	-	NC_000009.12:g.136446883G>C	gnomAD
rs1330125382	p.Asn2256Ser	missense variant	-	NC_000009.12:g.136446880T>C	gnomAD
rs1298810969	p.Pro2257Ser	missense variant	-	NC_000009.12:g.136446878G>A	gnomAD
rs765212299	p.Glu2258Gly	missense variant	-	NC_000009.12:g.136446874T>C	ExAC,gnomAD
rs750476360	p.Pro2259Ser	missense variant	-	NC_000009.12:g.136446872G>A	ExAC,gnomAD
rs767618995	p.Glu2262Ala	missense variant	-	NC_000009.12:g.136446862T>G	ExAC,gnomAD
rs908264944	p.Lys2264Arg	missense variant	-	NC_000009.12:g.136446856T>C	TOPMed,gnomAD
rs752520419	p.Ser2267Asn	missense variant	-	NC_000009.12:g.136445712C>T	ExAC,gnomAD
rs948780105	p.Ser2268Pro	missense variant	-	NC_000009.12:g.136445710A>G	TOPMed,gnomAD
rs199987574	p.Ala2269Val	missense variant	-	NC_000009.12:g.136445706G>A	ExAC,TOPMed,gnomAD
rs199987574	p.Ala2269Glu	missense variant	-	NC_000009.12:g.136445706G>T	ExAC,TOPMed,gnomAD
rs200253490	p.Ala2270Glu	missense variant	-	NC_000009.12:g.136445703G>T	ExAC,TOPMed,gnomAD
rs200253490	p.Ala2270Val	missense variant	-	NC_000009.12:g.136445703G>A	ExAC,TOPMed,gnomAD
rs200253490	p.Ala2270Gly	missense variant	-	NC_000009.12:g.136445703G>C	ExAC,TOPMed,gnomAD
rs375748300	p.Leu2272Val	missense variant	-	NC_000009.12:g.136445698G>C	ESP,ExAC,gnomAD
rs1442361178	p.Gly2274Ala	missense variant	-	NC_000009.12:g.136445691C>G	gnomAD
rs761962148	p.Pro2278Ser	missense variant	-	NC_000009.12:g.136445680G>A	ExAC,TOPMed,gnomAD
rs751661008	p.Ser2280Cys	missense variant	-	NC_000009.12:g.136445673G>C	ExAC,TOPMed,gnomAD
rs1206405766	p.Ser2280Pro	missense variant	-	NC_000009.12:g.136445674A>G	gnomAD
rs751661008	p.Ser2280Phe	missense variant	-	NC_000009.12:g.136445673G>A	ExAC,TOPMed,gnomAD
rs1284934982	p.Arg2281Lys	missense variant	-	NC_000009.12:g.136445670C>T	gnomAD
rs1237673696	p.Pro2282Leu	missense variant	-	NC_000009.12:g.136445667G>A	gnomAD
rs1429420979	p.Glu2283Ala	missense variant	-	NC_000009.12:g.136445664T>G	TOPMed
rs1284575296	p.Glu2289Lys	missense variant	-	NC_000009.12:g.136445647C>T	gnomAD
rs376539781	p.Ser2291Leu	missense variant	-	NC_000009.12:g.136445107G>A	ESP,ExAC,TOPMed,gnomAD
rs1197888170	p.Ser2291Pro	missense variant	-	NC_000009.12:g.136445108A>G	gnomAD
rs529911977	p.Arg2292Cys	missense variant	-	NC_000009.12:g.136445105G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs562597563	p.Arg2292His	missense variant	-	NC_000009.12:g.136445104C>T	1000Genomes,ExAC,gnomAD
rs529911977	p.Arg2292Gly	missense variant	-	NC_000009.12:g.136445105G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1470255345	p.Cys2293Tyr	missense variant	-	NC_000009.12:g.136445101C>T	TOPMed
rs764122148	p.Ser2294Gly	missense variant	-	NC_000009.12:g.136445099T>C	ExAC,gnomAD
rs1369977312	p.Met2296Val	missense variant	-	NC_000009.12:g.136445093T>C	gnomAD
rs887314199	p.Met2296Thr	missense variant	-	NC_000009.12:g.136445092A>G	TOPMed
rs1275726633	p.Ser2297Asn	missense variant	-	NC_000009.12:g.136445089C>T	gnomAD
rs758608679	p.Leu2299Ser	missense variant	-	NC_000009.12:g.136445083A>G	ExAC,gnomAD
rs752987885	p.Ser2300Pro	missense variant	-	NC_000009.12:g.136445081A>G	ExAC,gnomAD
rs924895336	p.Arg2301His	missense variant	-	NC_000009.12:g.136445077C>T	TOPMed,gnomAD
rs370453872	p.Arg2301Cys	missense variant	-	NC_000009.12:g.136445078G>A	ESP,ExAC,TOPMed,gnomAD
rs370453872	p.Arg2301Gly	missense variant	-	NC_000009.12:g.136445078G>C	ESP,ExAC,TOPMed,gnomAD
rs777202089	p.Val2303Ala	missense variant	-	NC_000009.12:g.136445071A>G	ExAC,gnomAD
rs1425423905	p.Ser2304Thr	missense variant	-	NC_000009.12:g.136445068C>G	TOPMed,gnomAD
rs1415737578	p.Ser2304Cys	missense variant	-	NC_000009.12:g.136445069T>A	TOPMed,gnomAD
rs766975699	p.Gln2305Arg	missense variant	-	NC_000009.12:g.136445065T>C	ExAC,gnomAD
rs1476844302	p.His2306Tyr	missense variant	-	NC_000009.12:g.136445063G>A	gnomAD
rs571167877	p.Ala2310Thr	missense variant	-	NC_000009.12:g.136443900C>T	1000Genomes,TOPMed
rs571167877	p.Ala2310Pro	missense variant	-	NC_000009.12:g.136443900C>G	1000Genomes,TOPMed
rs1365684335	p.Asp2313Glu	missense variant	-	NC_000009.12:g.136443889G>T	gnomAD
rs754228569	p.Asp2313Asn	missense variant	-	NC_000009.12:g.136443891C>T	ExAC,TOPMed,gnomAD
rs766691512	p.Leu2314Phe	missense variant	-	NC_000009.12:g.136443888G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro2315Ser	missense variant	-	NC_000009.12:g.136443885G>A	NCI-TCGA
rs922515710	p.Ala2316Val	missense variant	-	NC_000009.12:g.136443881G>A	TOPMed
rs761202040	p.Gly2318Glu	missense variant	-	NC_000009.12:g.136443875C>T	ExAC,gnomAD
rs750910008	p.Gly2319Asp	missense variant	-	NC_000009.12:g.136443872C>T	ExAC,gnomAD
rs761311945	p.Ser2322Arg	missense variant	-	NC_000009.12:g.136443862G>C	ExAC,TOPMed,gnomAD
rs569502099	p.Gly2323Arg	missense variant	-	NC_000009.12:g.136443861C>T	ExAC,TOPMed,gnomAD
rs762635733	p.Ala2324Ser	missense variant	-	NC_000009.12:g.136443858C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala2324Val	missense variant	-	NC_000009.12:g.136443857G>A	NCI-TCGA
rs775226127	p.Met2325Ile	missense variant	-	NC_000009.12:g.136443853C>G	ExAC,gnomAD
rs1488098500	p.Pro2326Ser	missense variant	-	NC_000009.12:g.136443852G>A	gnomAD
rs769501446	p.Pro2326Leu	missense variant	-	NC_000009.12:g.136443851G>A	ExAC,TOPMed,gnomAD
rs1252480283	p.Asn2329Ser	missense variant	-	NC_000009.12:g.136443842T>C	TOPMed
rs770967716	p.Pro2330Leu	missense variant	-	NC_000009.12:g.136443839G>A	ExAC,gnomAD
rs369325234	p.Pro2330Ser	missense variant	-	NC_000009.12:g.136443840G>A	ESP,ExAC,gnomAD
rs1341764655	p.Ala2331Val	missense variant	-	NC_000009.12:g.136443836G>A	gnomAD
rs748224873	p.Gln2332Ter	stop gained	-	NC_000009.12:g.136443834G>A	ExAC,TOPMed,gnomAD
rs1366545199	p.Ala2334Ser	missense variant	-	NC_000009.12:g.136443828C>A	TOPMed
rs1427063883	p.Ala2334Gly	missense variant	-	NC_000009.12:g.136443827G>C	TOPMed
rs372004342	p.Ala2338Thr	missense variant	-	NC_000009.12:g.136441817C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs367997914	p.Thr2339Asn	missense variant	-	NC_000009.12:g.136441813G>T	ESP,ExAC,TOPMed,gnomAD
rs750736045	p.Gly2341Arg	missense variant	-	NC_000009.12:g.136441808C>G	ExAC,TOPMed,gnomAD
rs750736045	p.Gly2341Arg	missense variant	-	NC_000009.12:g.136441808C>T	ExAC,TOPMed,gnomAD
rs748340621	p.Ser2342Asn	missense variant	-	NC_000009.12:g.136441804C>T	ExAC,TOPMed,gnomAD
rs757722917	p.Arg2344Gly	missense variant	-	NC_000009.12:g.136441799T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg2344Ser	missense variant	-	NC_000009.12:g.136441797C>G	NCI-TCGA
rs926545013	p.Arg2344Ser	missense variant	-	NC_000009.12:g.136441797C>A	TOPMed
rs763538447	p.Gly2346Glu	missense variant	-	NC_000009.12:g.136441792C>T	ExAC,TOPMed,gnomAD
rs752083953	p.Gly2346Arg	missense variant	-	NC_000009.12:g.136441793C>G	ExAC,gnomAD
rs569995127	p.Arg2347Ser	missense variant	-	NC_000009.12:g.136441788C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1394753737	p.Ile2348Thr	missense variant	-	NC_000009.12:g.136441786A>G	TOPMed,gnomAD
rs1394753737	p.Ile2348Ser	missense variant	-	NC_000009.12:g.136441786A>C	TOPMed,gnomAD
rs1172140684	p.Gly2349Asp	missense variant	-	NC_000009.12:g.136441783C>T	gnomAD
rs1441996244	p.Lys2352Asn	missense variant	-	NC_000009.12:g.136441773C>A	gnomAD
rs759281401	p.Val2355Leu	missense variant	-	NC_000009.12:g.136441766C>G	ExAC,gnomAD
rs370241554	p.Asn2357Lys	missense variant	-	NC_000009.12:g.136441758G>C	ESP,ExAC,TOPMed,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0030567	Parkinson Disease	disease	BEFREE
C0200638	Eosinophil count procedure	phenotype	GWASCAT
C0553723	Squamous cell carcinoma of skin	disease	GWASCAT
C0750879	Eosinophil count result	phenotype	GWASCAT
C0949690	Spondylarthritis	disease	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005515	protein binding	IPI

GO:Biological Process

GO ID	GO Term	Evidence
GO:0006888	endoplasmic reticulum to Golgi vesicle-mediated transport	IMP
GO:0007029	endoplasmic reticulum organization	IMP
GO:0007029	endoplasmic reticulum organization	IDA
GO:0007029	endoplasmic reticulum organization	IBA
GO:0007030	Golgi organization	IBA
GO:0021762	substantia nigra development	HEP
GO:0032527	protein exit from endoplasmic reticulum	ISS
GO:0034976	response to endoplasmic reticulum stress	IDA
GO:0043000	Golgi to plasma membrane CFTR protein transport	IMP
GO:0048208	COPII vesicle coating	IBA
GO:0048208	COPII vesicle coating	TAS
GO:0050821	protein stabilization	IMP
GO:0070863	positive regulation of protein exit from endoplasmic reticulum	IBA
GO:0070973	protein localization to endoplasmic reticulum exit site	IBA
GO:0070973	protein localization to endoplasmic reticulum exit site	IMP
GO:0072659	protein localization to plasma membrane	ISS

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0000139	Golgi membrane	IEA
GO:0005783	endoplasmic reticulum	IDA
GO:0005789	endoplasmic reticulum membrane	IDA
GO:0005794	Golgi apparatus	IDA
GO:0005829	cytosol	IDA
GO:0005829	cytosol	TAS
GO:0012507	ER to Golgi transport vesicle membrane	IBA
GO:0031090	organelle membrane	IDA
GO:0048471	perinuclear region of cytoplasm	ISS
GO:0070971	endoplasmic reticulum exit site	IDA
GO:0070971	endoplasmic reticulum exit site	IBA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-199977	ER to Golgi Anterograde Transport	TAS
R-HSA-199991	Membrane Trafficking	TAS
R-HSA-204005	COPII-mediated vesicle transport	TAS
R-HSA-392499	Metabolism of proteins	TAS
R-HSA-446203	Asparagine N-linked glycosylation	TAS
R-HSA-5653656	Vesicle-mediated transport	TAS
R-HSA-597592	Post-translational protein modification	TAS
R-HSA-948021	Transport to the Golgi and subsequent modification	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
D015056	1-Methyl-3-isobutylxanthine	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in decreased expression of SEC16A mRNA	28628672
D015655	1-Methyl-4-phenylpyridinium	1-Methyl-4-phenylpyridinium results in increased expression of SEC16A mRNA	28801915
C051246	1-methylanthracene	[1-methylanthracene co-treated with fluoranthene] results in increased expression of SEC16A mRNA	28329830
D015123	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of SEC16A mRNA	19150397
D000082	Acetaminophen	Acetaminophen results in decreased expression of SEC16A mRNA	21420995
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of SEC16A exon	30157460
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of SEC16A gene	27153756
D016604	Aflatoxin B1	Aflatoxin B1 results in increased expression of SEC16A mRNA	19770486
C029753	aflatoxin B2	aflatoxin B2 results in decreased methylation of SEC16A exon	30157460
D018501	Antirheumatic Agents	Antirheumatic Agents results in decreased expression of SEC16A mRNA	24449571
D001554	Benzene	Benzene results in increased expression of SEC16A mRNA	19162166
C026487	benzo(e)pyrene	benzo(e)pyrene results in decreased methylation of SEC16A exon	30157460
C006780	bisphenol A	bisphenol A results in decreased expression of SEC16A mRNA	15223131
C006780	bisphenol A	ESR1 protein affects the reaction [bisphenol A results in decreased expression of SEC16A mRNA]	15223131
C006780	bisphenol A	bisphenol A results in increased expression of SEC16A mRNA	28196854
C006780	bisphenol A	bisphenol A affects the expression of SEC16A mRNA	25181051
C000611646	bisphenol F	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in decreased expression of SEC16A mRNA	28628672
C013418	bromfenacoum	bromfenacoum results in decreased expression of SEC16A protein	28903499
D002945	Cisplatin	Cisplatin results in decreased expression of SEC16A mRNA	27594783
D019327	Copper Sulfate	Copper Sulfate results in increased expression of SEC16A mRNA	19549813
D016572	Cyclosporine	Cyclosporine results in increased expression of SEC16A mRNA	25562108; 27989131;
D003907	Dexamethasone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in decreased expression of SEC16A mRNA	28628672
C000944	dicrotophos	dicrotophos results in increased expression of SEC16A mRNA	28302478
D004317	Doxorubicin	Doxorubicin results in increased expression of SEC16A mRNA	29803840
D013759	Dronabinol	Dronabinol results in decreased expression of SEC16A mRNA	18454173
D004726	Endosulfan	Endosulfan results in increased expression of SEC16A mRNA	29391264
D004791	Enzyme Inhibitors	[Enzyme Inhibitors results in decreased activity of OGA protein] which results in increased O-linked glycosylation of SEC16A protein	23301498
C472787	erucylphospho-N,N,N-trimethylpropylammonium	erucylphospho-N,N,N-trimethylpropylammonium results in increased expression of SEC16A mRNA	29464035
D004958	Estradiol	ESR1 protein affects the reaction [Estradiol results in decreased expression of SEC16A mRNA]	15223131
D004958	Estradiol	Estradiol results in decreased expression of SEC16A mRNA	15223131
C007738	fluoranthene	[1-methylanthracene co-treated with fluoranthene] results in increased expression of SEC16A mRNA	28329830
D005485	Flutamide	Flutamide results in increased expression of SEC16A mRNA	24136188
D005897	Glafenine	Glafenine results in increased expression of SEC16A mRNA	24136188
D007213	Indomethacin	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in decreased expression of SEC16A mRNA	28628672
D007213	Indomethacin	Indomethacin results in decreased expression of SEC16A mRNA	28201806
C410337	K 7174	K 7174 results in increased expression of SEC16A mRNA	24086573
D000077339	Leflunomide	Leflunomide results in decreased expression of SEC16A mRNA	28988120
D008701	Methapyrilene	Methapyrilene results in decreased methylation of SEC16A exon	30157460
C000622638	MLN7243	MLN7243 results in decreased sumoylation of SEC16A protein	31285264
C044387	N,N,N',N'-tetrakis(2-pyridylmethyl)ethylenediamine	N,N,N',N'-tetrakis(2-pyridylmethyl)ethylenediamine results in decreased expression of SEC16A mRNA	12756304
C058305	phenethyl isothiocyanate	phenethyl isothiocyanate results in increased expression of SEC16A mRNA	17616710
D011192	Potassium Dichromate	Potassium Dichromate results in increased expression of SEC16A protein	23718831
D012643	Selenium	Selenium results in decreased expression of SEC16A mRNA	19244175
D000077210	Sunitinib	Sunitinib results in increased expression of SEC16A mRNA	31533062
C061133	tamibarotene	tamibarotene results in decreased expression of SEC16A mRNA	15498508
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of SEC16A mRNA	21570461
D013749	Tetrachlorodibenzodioxin	[TIPARP gene mutant form results in increased susceptibility to Tetrachlorodibenzodioxin] which results in increased expression of SEC16A mRNA	25975270
D014212	Tretinoin	Tretinoin results in decreased expression of SEC16A mRNA	15498508
D014414	Tungsten	Tungsten results in decreased expression of SEC16A mRNA	30912803
D014635	Valproic Acid	Valproic Acid affects the expression of SEC16A mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in increased methylation of SEC16A gene	29154799
D014810	Vitamin E	Vitamin E results in decreased expression of SEC16A mRNA	19244175

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0025	Alternative splicing
KW-0963	Cytoplasm
KW-0256	Endoplasmic reticulum
KW-0931	ER-Golgi transport
KW-0333	Golgi apparatus
KW-0472	Membrane
KW-0492	Microsome
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-0653	Protein transport
KW-1185	Reference proteome
KW-0813	Transport

Interpro

InterPro ID	InterPro Term
IPR024298	ACE1_Sec16_Sec31
IPR024880	Sec16
IPR024340	Sec16_CCD

PROSITE

PROSITE ID	PROSITE Term

Pfam

Pfam ID	Pfam Term
PF12932	Sec16
PF12931	Sec16_C

Gene: SEC16A

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

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Identified variants/mutations related to cleft phenotype

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