CleftGeneDB-Search

Gene: VWA8

Basic information

Tag	Content
Uniprot ID	A3KMH1; O60310; Q5JTP6; Q5VW08; Q7Z6I9; Q86YC9; Q8N3E4;
Entrez ID	23078
Genbank protein ID	BAA25490.1; AAI31803.1; AAH53674.2; AAH42924.2; CAD38878.1;
Genbank nucleotide ID	NM_001009814.1; NM_015058.1; XM_017020474.1;
Ensembl protein ID	ENSP00000281496; ENSP00000368612;
Ensembl nucleotide ID	ENSG00000102763
Gene name	von Willebrand factor A domain-containing protein 8
Gene symbol	VWA8
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Manually collected
Reference	27229527
Functional description	Exhibits ATPase activity in vitro.
Sequence	MQSRLLLLGA PGGHGGPASR RMRLLLRQVV QRRPGGDRQR PEVRLLHAGS GADTGDTVNI 60 GDVSYKLKIP KNPELVPQNY ISDSLAQSVV QHLRWIMQKD LLGQDVFLIG PPGPLRRSIA 120 MQYLELTKRE VEYIALSRDT TETDLKQRRE IRAGTAFYID QCAVRAATEG RTLILEGLEK 180 AERNVLPVLN NLLENREMQL EDGRFLMSAE RYDKLLRDHT KKELDSWKIV RVSENFRVIA 240 LGLPVPRYSG NPLDPPLRSR FQARDIYYLP FKDQLKLLYS IGANVSAEKV SQLLSFATTL 300 CSQESSTLGL PDFPLDSLAA AVQILDSFPM MPIKHAIQWL YPYSILLGHE GKMAVEGVLK 360 RFELQDSGSS LLPKEIVKVE KMMENHVSQA SVTIRIADKE VTIKVPAGTR LLSQPCASDR 420 FIQTLSHKQL QAEMMQSHMV KDICLIGGKG CGKTVIAKNF ADTLGYNIEP IMLYQDMTAR 480 DLLQQRYTLP NGDTAWRSSP LVNAALEGKL VLLDGIHRVN AGTLAVLQRL IHDRELSLYD 540 GSRLLREDRY MRLKEELQLS DEQLQKRSIF PIHPSFRIIA LAEPPVIGST AHQWLGPEFL 600 TMFFFHYMKP LVKSEEIQVI KEKVPNVPQE ALDKLLSFTH KLRETQDPTA QSLAASLSTR 660 QLLRISRRLS QYPNENLHSA VTKACLSRFL PSLARSALEK NLADATIEIN TDDNLEPELK 720 DYKCEVTSGT LRIGAVSAPI YNAHEKMKVP DVLFYDNIQH VIVMEDMLKD FLLGEHLLLV 780 GNQGVGKNKI VDRFLHLLNR PREYIQLHRD TTVQTLTLQP SVKDGLIVYE DSPLVKAVKL 840 GHILVVDEAD KAPTNVTCIL KTLVENGEMI LADGRRIVAN SANVNGRENV VVIHPDFRMI 900 VLANRPGFPF LGNDFFGTLG DIFSCHAVDN PKPHSELEML RQYGPNVPEP ILQKLVAAFG 960 ELRSLADQGI INYPYSTREV VNIVKHLQKF PTEGLSSVVR NVFDFDSYNN DMREILINTL 1020 HKYGIPIGAK PTSVQLAKEL TLPEQTFMGY WTIGQARSGM QKLLCPVETH HIDIKGPALI 1080 NIQEYPIERH EERSLNFTEE CASWRIPLDE INIICDIATS HENEQNTLYV VTCNPASLYF 1140 MNMTGKSGFF VDFFDIFPRT ANGVWHPFVT VAPLGSPLKG QVVLHEQQSN VILLLDTTGR 1200 ALHRLILPSE KFTSKKPFWW NKEEAETYKM CKEFSHKNWL VFYKEKGNSL TVLDVLEGRT 1260 HTISLPINLK TVFLVAEDKW LLVESKTNQK YLLTKPAHIE SEGSGVCQLY VLKEEPPSTG 1320 FGVTQETEFS IPHKISSDQL SSEHLSSAVE QKIASPNRIL SDEKNYATIV VGFPDLMSPS 1380 EVYSWKRPSS LHKRSGTDTS FYRGKKKRGT PKQSNCVTLL DTNQVVRILP PGEVPLKDIY 1440 PKDVTPPQTS GYIEVTDLQS KKLRYIPIPR SESLSPYTTW LSTISDTDAL LAEWDKSGVV 1500 TVDMGGHIRL WETGLERLQR SLMEWRNMIG QDDRNMQITI NRDSGEDVSS PKHGKEDPDN 1560 MPHVGGNTWA GGTGGRDTAG LGGKGGPYRL DAGHTVYQVS QAEKDAVPEE VKRAAREMGQ 1620 RAFQQRLKEI QMSEYDAATY ERFSGAVRRQ VHSLRIILDN LQAKGKERQW LRHQATGELD 1680 DAKIIDGLTG EKAIYKRRGE LEPQLGSPQQ KPKRLRLVVD VSGSMYRFNR MDGRLERTME 1740 AVCMVMEAFE NYEEKFQYDI VGHSGDGYNI GLVPMNKIPK DNKQRLEILK TMHAHSQFCM 1800 SGDHTLEGTE HAIKEIVKEE ADEYFVIVLS DANLSRYGIH PAKFAQILTR DPQVNAFAIF 1860 IGSLGDQATR LQRTLPAGRS FVAMDTKDIP QILQQIFTST MLSSV 1905

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	VWA8	485463	F1PD22	Canis lupus familiaris	Prediction	More>>
1:1 ortholog	VWA8		A0A452ENV0	Capra hircus	Prediction	More>>
1:1 ortholog	VWA8	23078	A3KMH1	Homo sapiens	Publication	More>>
1:1 ortholog	Vwa8	219189	Q8CC88	Mus musculus	Prediction	More>>
1:1 ortholog	VWA8	452560	H2Q7H4	Pan troglodytes	Prediction	More>>
1:1 ortholog	VWA8		I3LJL2	Sus scrofa	Prediction	More>>
1:1 ortholog	VWA8		G1T8E0	Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	vax2	561317	B0R0T1	Danio rerio	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
VWA8	rs370112959G>A; p.Arg1520*	WES and Sanger sequencing	27229527
VWA8	p.Thr817	WES and Sanger sequencing	27229527
VWA8	rs138075452C>T; p.Atg668Gln	WES and Sanger sequencing	27229527
VWA8	rs73464952T>C; p.Val1564Met	WES and Sanger sequencing	27229527

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1168205575	p.Leu5Phe	missense variant	-	NC_000013.11:g.41961003G>A	TOPMed
rs773219232	p.Gly9Arg	missense variant	-	NC_000013.11:g.41960991C>G	ExAC,TOPMed,gnomAD
rs1278130748	p.Ala10Glu	missense variant	-	NC_000013.11:g.41960987G>T	gnomAD
rs1278130748	p.Ala10Val	missense variant	-	NC_000013.11:g.41960987G>A	gnomAD
rs1359134649	p.Pro11Leu	missense variant	-	NC_000013.11:g.41960984G>A	TOPMed
rs1441946555	p.Pro11Ser	missense variant	-	NC_000013.11:g.41960985G>A	gnomAD
rs772144260	p.His14Asn	missense variant	-	NC_000013.11:g.41960976G>T	ExAC,gnomAD
rs543752211	p.Gly15Ser	missense variant	-	NC_000013.11:g.41960973C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1174380161	p.Gly16Val	missense variant	-	NC_000013.11:g.41960969C>A	gnomAD
rs1374902141	p.Gly16Cys	missense variant	-	NC_000013.11:g.41960970C>A	gnomAD
rs1436492547	p.Pro17Arg	missense variant	-	NC_000013.11:g.41960966G>C	gnomAD
rs1045945724	p.Ala18Val	missense variant	-	NC_000013.11:g.41960963G>A	TOPMed
rs1470407905	p.Ser19Leu	missense variant	-	NC_000013.11:g.41960960G>A	TOPMed,gnomAD
rs1485165103	p.Arg21Pro	missense variant	-	NC_000013.11:g.41960954C>G	gnomAD
rs769667547	p.Arg21Cys	missense variant	-	NC_000013.11:g.41960955G>A	ExAC,gnomAD
rs769667547	p.Arg21Ser	missense variant	-	NC_000013.11:g.41960955G>T	ExAC,gnomAD
rs922002218	p.Met22Val	missense variant	-	NC_000013.11:g.41960952T>C	gnomAD
rs1039231861	p.Arg23Gly	missense variant	-	NC_000013.11:g.41960949G>C	TOPMed,gnomAD
rs1039231861	p.Arg23Trp	missense variant	-	NC_000013.11:g.41960949G>A	TOPMed,gnomAD
rs1282771485	p.Leu24Pro	missense variant	-	NC_000013.11:g.41960945A>G	gnomAD
rs781161376	p.Val29Gly	missense variant	-	NC_000013.11:g.41960930A>C	ExAC,gnomAD
rs756918775	p.Val30Leu	missense variant	-	NC_000013.11:g.41960928C>A	ExAC,TOPMed,gnomAD
rs978280840	p.Gln31His	missense variant	-	NC_000013.11:g.41960923C>G	TOPMed,gnomAD
rs1413128428	p.Gln31Pro	missense variant	-	NC_000013.11:g.41960924T>G	TOPMed,gnomAD
rs1413128428	p.Gln31Arg	missense variant	-	NC_000013.11:g.41960924T>C	TOPMed,gnomAD
rs978280840	p.Gln31His	missense variant	-	NC_000013.11:g.41960923C>A	TOPMed,gnomAD
rs966353455	p.Arg32Leu	missense variant	-	NC_000013.11:g.41960921C>A	TOPMed,gnomAD
rs985303286	p.Pro34Leu	missense variant	-	NC_000013.11:g.41960915G>A	TOPMed,gnomAD
rs1317585372	p.Gly35Ser	missense variant	-	NC_000013.11:g.41960913C>T	TOPMed,gnomAD
rs1317585372	p.Gly35Arg	missense variant	-	NC_000013.11:g.41960913C>G	TOPMed,gnomAD
rs1409853545	p.Gln39His	missense variant	-	NC_000013.11:g.41960899C>G	gnomAD
rs1161317625	p.Arg40Gln	missense variant	-	NC_000013.11:g.41960897C>T	gnomAD
rs1474670141	p.Pro41Leu	missense variant	-	NC_000013.11:g.41960894G>A	gnomAD
rs1346244882	p.Glu42Ala	missense variant	-	NC_000013.11:g.41960891T>G	TOPMed
rs953981412	p.Val43Ile	missense variant	-	NC_000013.11:g.41960889C>T	TOPMed
rs1448119347	p.His47Gln	missense variant	-	NC_000013.11:g.41960875G>T	gnomAD
rs746669100	p.Ala48Val	missense variant	-	NC_000013.11:g.41960873G>A	ExAC,TOPMed,gnomAD
rs934511516	p.Gly49Asp	missense variant	-	NC_000013.11:g.41960870C>T	TOPMed
rs934511516	p.Gly49Val	missense variant	-	NC_000013.11:g.41960870C>A	TOPMed
rs976581962	p.Ser50Thr	missense variant	-	NC_000013.11:g.41960868A>T	TOPMed
rs1334359339	p.Ala52Pro	missense variant	-	NC_000013.11:g.41960862C>G	gnomAD
rs1327715342	p.Gly55Asp	missense variant	-	NC_000013.11:g.41950013C>T	gnomAD
rs1005788518	p.Asp56Glu	missense variant	-	NC_000013.11:g.41950009A>T	TOPMed
rs774332795	p.Asp56Val	missense variant	-	NC_000013.11:g.41950010T>A	ExAC,gnomAD
rs148607339	p.Thr57Ile	missense variant	-	NC_000013.11:g.41950007G>A	NCI-TCGA,NCI-TCGA Cosmic
rs148607339	p.Thr57Ile	missense variant	-	NC_000013.11:g.41950007G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1411187566	p.Asn59Asp	missense variant	-	NC_000013.11:g.41950002T>C	gnomAD
COSM947507	p.Asn59Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41950001T>G	NCI-TCGA Cosmic
rs745812712	p.Ile60Thr	missense variant	-	NC_000013.11:g.41949998A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp62Tyr	missense variant	-	NC_000013.11:g.41949993C>A	NCI-TCGA
rs776506564	p.Asp62Asn	missense variant	-	NC_000013.11:g.41949993C>T	ExAC,gnomAD
rs61752293	p.Ser64Cys	missense variant	-	NC_000013.11:g.41949986G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1454256920	p.Ser64Thr	missense variant	-	NC_000013.11:g.41949987A>T	gnomAD
rs777549499	p.Tyr65Cys	missense variant	-	NC_000013.11:g.41949983T>C	ExAC,gnomAD
rs777549499	p.Tyr65Phe	missense variant	-	NC_000013.11:g.41949983T>A	ExAC,gnomAD
rs368541436	p.Lys68Ile	missense variant	-	NC_000013.11:g.41949974T>A	ESP,ExAC,TOPMed,gnomAD
COSM947506	p.Ile69Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41949971A>T	NCI-TCGA Cosmic
COSM3468948	p.Pro70Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41949969G>A	NCI-TCGA Cosmic
rs747657117	p.Lys71Arg	missense variant	-	NC_000013.11:g.41949965T>C	ExAC,gnomAD
rs1205255151	p.Lys71Ter	stop gained	-	NC_000013.11:g.41949966T>A	gnomAD
rs1248962473	p.Asn72Lys	missense variant	-	NC_000013.11:g.41949961A>T	TOPMed
rs778309847	p.Pro73Ser	missense variant	-	NC_000013.11:g.41949960G>A	ExAC,gnomAD
rs1348586650	p.Pro77Leu	missense variant	-	NC_000013.11:g.41949947G>A	gnomAD
rs1305339581	p.Gln78Ter	stop gained	-	NC_000013.11:g.41949945G>A	NCI-TCGA
rs1305339581	p.Gln78Ter	stop gained	-	NC_000013.11:g.41949945G>A	gnomAD
rs780605762	p.Tyr80Ter	stop gained	-	NC_000013.11:g.41949937G>C	ExAC,gnomAD
rs1376548842	p.Asp83Ala	missense variant	-	NC_000013.11:g.41912162T>G	gnomAD
rs1305132611	p.Ser84Phe	missense variant	-	NC_000013.11:g.41912159G>A	TOPMed,gnomAD
rs771709787	p.Gln87Leu	missense variant	-	NC_000013.11:g.41912150T>A	ExAC,TOPMed,gnomAD
rs537055915	p.Gln87Ter	stop gained	-	NC_000013.11:g.41912151G>A	ExAC,TOPMed,gnomAD
rs771709787	p.Gln87Arg	missense variant	-	NC_000013.11:g.41912150T>C	ExAC,TOPMed,gnomAD
rs369325555	p.Ser88Phe	missense variant	-	NC_000013.11:g.41912147G>A	ESP,ExAC,TOPMed,gnomAD
rs369325555	p.Ser88Tyr	missense variant	-	NC_000013.11:g.41912147G>T	ESP,ExAC,TOPMed,gnomAD
rs778420533	p.Val89Gly	missense variant	-	NC_000013.11:g.41912144A>C	ExAC,TOPMed,gnomAD
rs1326512134	p.His92Pro	missense variant	-	NC_000013.11:g.41912135T>G	TOPMed
rs768048457	p.Trp95Arg	missense variant	-	NC_000013.11:g.41912127A>G	ExAC,gnomAD
rs1486053748	p.Met97Ile	missense variant	-	NC_000013.11:g.41912119C>T	gnomAD
COSM3813836	p.Met97Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41912121T>G	NCI-TCGA Cosmic
rs748853303	p.Gln98Arg	missense variant	-	NC_000013.11:g.41912117T>C	ExAC,gnomAD
rs1203279926	p.Lys99Met	missense variant	-	NC_000013.11:g.41912114T>A	TOPMed,gnomAD
rs1203279926	p.Lys99Arg	missense variant	-	NC_000013.11:g.41912114T>C	TOPMed,gnomAD
rs780515564	p.Asp100Gly	missense variant	-	NC_000013.11:g.41912111T>C	ExAC,gnomAD
rs895292913	p.Leu101Phe	missense variant	-	NC_000013.11:g.41912109G>A	TOPMed,gnomAD
rs895292913	p.Leu101Ile	missense variant	-	NC_000013.11:g.41912109G>T	TOPMed,gnomAD
rs895292913	p.Leu101Val	missense variant	-	NC_000013.11:g.41912109G>C	TOPMed,gnomAD
rs1332129753	p.Leu102Ser	missense variant	-	NC_000013.11:g.41912105A>G	gnomAD
rs750745493	p.Gly103Trp	missense variant	-	NC_000013.11:g.41912103C>A	ExAC,gnomAD
rs781429320	p.Asp105Asn	missense variant	-	NC_000013.11:g.41912097C>T	ExAC,gnomAD
rs1292869248	p.Leu108Val	missense variant	-	NC_000013.11:g.41912088G>C	gnomAD
rs1486758401	p.Ile109Thr	missense variant	-	NC_000013.11:g.41912084A>G	gnomAD
rs200540728	p.Pro111Ser	missense variant	-	NC_000013.11:g.41912079G>A	1000Genomes,ExAC,gnomAD
rs751732674	p.Pro111Leu	missense variant	-	NC_000013.11:g.41912078G>A	ExAC,TOPMed,gnomAD
rs200540728	p.Pro111Ser	missense variant	-	NC_000013.11:g.41912079G>A	NCI-TCGA
rs764440777	p.Pro112Ser	missense variant	-	NC_000013.11:g.41912076G>A	ExAC,gnomAD
rs763105616	p.Pro112His	missense variant	-	NC_000013.11:g.41912075G>T	ExAC,gnomAD
NCI-TCGA novel	p.Gly113Val	missense variant	-	NC_000013.11:g.41912072C>A	NCI-TCGA
rs376871431	p.Gly113Glu	missense variant	-	NC_000013.11:g.41912072C>T	ESP
rs1392495387	p.Pro114Leu	missense variant	-	NC_000013.11:g.41912069G>A	gnomAD
rs766383093	p.Arg116Gln	missense variant	-	NC_000013.11:g.41912063C>T	NCI-TCGA
rs759144797	p.Arg116Ter	stop gained	-	NC_000013.11:g.41912064G>A	ExAC,TOPMed,gnomAD
rs766383093	p.Arg116Gln	missense variant	-	NC_000013.11:g.41912063C>T	ExAC,TOPMed,gnomAD
rs1323552190	p.Arg117His	missense variant	-	NC_000013.11:g.41912060C>T	gnomAD
rs373082900	p.Arg117Cys	missense variant	-	NC_000013.11:g.41912061G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs773084817	p.Ile119Leu	missense variant	-	NC_000013.11:g.41912055T>G	ExAC,gnomAD
rs761737335	p.Met121Ile	missense variant	-	NC_000013.11:g.41912047C>G	ExAC,gnomAD
rs768401732	p.Tyr123Ser	missense variant	-	NC_000013.11:g.41912042T>G	ExAC
rs775011400	p.Leu124Trp	missense variant	-	NC_000013.11:g.41912039A>C	ExAC,gnomAD
rs748763283	p.Leu124Val	missense variant	-	NC_000013.11:g.41912040A>C	ExAC,TOPMed,gnomAD
rs1442109682	p.Glu125Lys	missense variant	-	NC_000013.11:g.41907696C>T	gnomAD
rs1333015479	p.Thr127Ile	missense variant	-	NC_000013.11:g.41907689G>A	gnomAD
rs771511624	p.Lys128Arg	missense variant	-	NC_000013.11:g.41907686T>C	ExAC,gnomAD
rs142543350	p.Arg129Trp	missense variant	-	NC_000013.11:g.41907684G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs148430411	p.Arg129Gln	missense variant	-	NC_000013.11:g.41907683C>T	ESP,ExAC,TOPMed,gnomAD
rs546019716	p.Glu130Asp	missense variant	-	NC_000013.11:g.41907679C>A	ExAC,gnomAD
rs755097912	p.Ala135Asp	missense variant	-	NC_000013.11:g.41907665G>T	ExAC,gnomAD
rs754000432	p.Leu136Pro	missense variant	-	NC_000013.11:g.41907662A>G	ExAC,gnomAD
rs1437807190	p.Arg138Gly	missense variant	-	NC_000013.11:g.41907657T>C	TOPMed
rs1184893487	p.Arg138Lys	missense variant	-	NC_000013.11:g.41907656C>T	TOPMed
rs751263968	p.Thr140Asn	missense variant	-	NC_000013.11:g.41907650G>T	ExAC,gnomAD
rs757247947	p.Thr140Ala	missense variant	-	NC_000013.11:g.41907651T>C	ExAC,gnomAD
rs757247947	p.Thr140Ser	missense variant	-	NC_000013.11:g.41907651T>A	ExAC,gnomAD
rs763889371	p.Thr141Ala	missense variant	-	NC_000013.11:g.41907648T>C	ExAC,TOPMed,gnomAD
rs762522444	p.Thr141Ser	missense variant	-	NC_000013.11:g.41907647G>C	ExAC,TOPMed,gnomAD
rs775115533	p.Glu142Gly	missense variant	-	NC_000013.11:g.41907644T>C	ExAC
rs764924375	p.Thr143Ile	missense variant	-	NC_000013.11:g.41907641G>A	ExAC,gnomAD
rs1278182059	p.Asp144Val	missense variant	-	NC_000013.11:g.41907638T>A	gnomAD
rs1238591814	p.Lys146Ile	missense variant	-	NC_000013.11:g.41907632T>A	gnomAD
NCI-TCGA novel	p.Gln147His	missense variant	-	NC_000013.11:g.41907628C>A	NCI-TCGA
rs372023506	p.Arg148Gln	missense variant	-	NC_000013.11:g.41907626C>T	ESP,ExAC,TOPMed,gnomAD
rs776238856	p.Arg148Ter	stop gained	-	NC_000013.11:g.41907627G>A	ExAC,TOPMed,gnomAD
rs1445290064	p.Arg149Gln	missense variant	-	NC_000013.11:g.41907623C>T	TOPMed
rs1010094785	p.Arg149Ter	stop gained	-	NC_000013.11:g.41907624G>A	TOPMed,gnomAD
rs773386212	p.Glu150Asp	missense variant	-	NC_000013.11:g.41907619C>G	ExAC,gnomAD
rs367893800	p.Glu150Gln	missense variant	-	NC_000013.11:g.41907621C>G	ESP,ExAC,TOPMed,gnomAD
rs1448449785	p.Ile151Phe	missense variant	-	NC_000013.11:g.41907618T>A	TOPMed,gnomAD
rs1227909630	p.Ile151Asn	missense variant	-	NC_000013.11:g.41907617A>T	TOPMed
rs201977742	p.Arg152Cys	missense variant	-	NC_000013.11:g.41907615G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200022468	p.Arg152His	missense variant	-	NC_000013.11:g.41907614C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs200022468	p.Arg152Leu	missense variant	-	NC_000013.11:g.41907614C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1470276403	p.Thr155Ile	missense variant	-	NC_000013.11:g.41907605G>A	gnomAD
rs780204607	p.Ala156Thr	missense variant	-	NC_000013.11:g.41907603C>T	ExAC,gnomAD
rs113016627	p.Ile159Thr	missense variant	-	NC_000013.11:g.41907593A>G	ESP,ExAC,TOPMed,gnomAD
rs1257256315	p.Ile159Val	missense variant	-	NC_000013.11:g.41907594T>C	TOPMed
rs925353374	p.Gln161His	missense variant	-	NC_000013.11:g.41907586C>G	TOPMed,gnomAD
rs1359734589	p.Ala163Val	missense variant	-	NC_000013.11:g.41891583G>A	TOPMed,gnomAD
rs1034651553	p.Arg165Cys	missense variant	-	NC_000013.11:g.41891578G>A	NCI-TCGA
rs9562362	p.Arg165His	missense variant	-	NC_000013.11:g.41891577C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1034651553	p.Arg165Cys	missense variant	-	NC_000013.11:g.41891578G>A	gnomAD
rs1423568572	p.Ala166Val	missense variant	-	NC_000013.11:g.41891574G>A	TOPMed
rs542089572	p.Thr172Ser	missense variant	-	NC_000013.11:g.41891556G>C	1000Genomes,ExAC,gnomAD
rs200930321	p.Glu176Asp	missense variant	-	NC_000013.11:g.41891543T>A	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Glu179Gln	missense variant	-	NC_000013.11:g.41891536C>G	NCI-TCGA
rs778695726	p.Glu182Ter	stop gained	-	NC_000013.11:g.41891527C>A	ExAC,gnomAD
NCI-TCGA novel	p.Arg183Lys	missense variant	-	NC_000013.11:g.41891523C>T	NCI-TCGA
rs754524183	p.Asn184Ser	missense variant	-	NC_000013.11:g.41891520T>C	ExAC,gnomAD
rs754524183	p.Asn184Ser	missense variant	-	NC_000013.11:g.41891520T>C	NCI-TCGA
rs753528349	p.Val185Gly	missense variant	-	NC_000013.11:g.41891517A>C	ExAC,TOPMed,gnomAD
rs1277438059	p.Leu189Trp	missense variant	-	NC_000013.11:g.41891505A>C	TOPMed
rs556482884	p.Asn190Ser	missense variant	-	NC_000013.11:g.41891502T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs760210746	p.Asn191Ser	missense variant	-	NC_000013.11:g.41891499T>C	ExAC,gnomAD
rs749994738	p.Leu192Trp	missense variant	-	NC_000013.11:g.41891496A>C	ExAC,TOPMed,gnomAD
rs1250275250	p.Leu193Pro	missense variant	-	NC_000013.11:g.41891493A>G	gnomAD
rs768100252	p.Glu194Gln	missense variant	-	NC_000013.11:g.41891491C>G	ExAC,TOPMed,gnomAD
rs762429668	p.Asn195Lys	missense variant	-	NC_000013.11:g.41891486G>C	ExAC,gnomAD
COSM3468947	p.Arg196Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41891484C>T	NCI-TCGA Cosmic
rs748468790	p.Glu197AspPheSerTerUnk	frameshift	-	NC_000013.11:g.41891479_41891480TC>-	NCI-TCGA,NCI-TCGA Cosmic
NCI-TCGA novel	p.Met198Ile	missense variant	-	NC_000013.11:g.41891477C>T	NCI-TCGA
rs1247545639	p.Met198Val	missense variant	-	NC_000013.11:g.41891479T>C	gnomAD
rs962635695	p.Gln199Leu	missense variant	-	NC_000013.11:g.41891475T>A	TOPMed,gnomAD
rs764524395	p.Gln199His	missense variant	-	NC_000013.11:g.41891474C>G	ExAC,TOPMed,gnomAD
rs764524395	p.Gln199His	missense variant	-	NC_000013.11:g.41891474C>A	ExAC,TOPMed,gnomAD
rs763289656	p.Asp202Asn	missense variant	-	NC_000013.11:g.41891467C>T	ExAC,TOPMed,gnomAD
rs200803682	p.Arg204Cys	missense variant	-	NC_000013.11:g.41891461G>A	ESP,ExAC,TOPMed,gnomAD
rs200803682	p.Arg204Ser	missense variant	-	NC_000013.11:g.41891461G>T	ESP,ExAC,TOPMed,gnomAD
rs745914537	p.Arg204His	missense variant	-	NC_000013.11:g.41891460C>T	ExAC,TOPMed,gnomAD
rs200803682	p.Arg204Cys	missense variant	-	NC_000013.11:g.41891461G>A	NCI-TCGA,NCI-TCGA Cosmic
rs1367815833	p.Met207Thr	missense variant	-	NC_000013.11:g.41891451A>G	gnomAD
rs1040344413	p.Ser208Cys	missense variant	-	NC_000013.11:g.41891448G>C	gnomAD
rs1040344413	p.Ser208Phe	missense variant	-	NC_000013.11:g.41891448G>A	gnomAD
rs776717761	p.Ala209Gly	missense variant	-	NC_000013.11:g.41891445G>C	ExAC,gnomAD
rs1353380944	p.Ala209Thr	missense variant	-	NC_000013.11:g.41891446C>T	gnomAD
NCI-TCGA novel	p.Arg211Leu	missense variant	-	NC_000013.11:g.41891439C>A	NCI-TCGA
rs143338038	p.Arg211Cys	missense variant	-	NC_000013.11:g.41891440G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs143338038	p.Arg211Ser	missense variant	-	NC_000013.11:g.41891440G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs376966830	p.Arg211His	missense variant	-	NC_000013.11:g.41891439C>T	ESP,ExAC,TOPMed,gnomAD
COSM289084	p.Tyr212Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000013.11:g.41891435G>T	NCI-TCGA Cosmic
rs553937949	p.Asp213Asn	missense variant	-	NC_000013.11:g.41891434C>T	1000Genomes,ExAC,gnomAD
rs749902607	p.Leu215Phe	missense variant	-	NC_000013.11:g.41891428G>A	ExAC,TOPMed,gnomAD
rs767147626	p.Leu216Val	missense variant	-	NC_000013.11:g.41891425G>C	ExAC,gnomAD
rs754590759	p.Arg217Pro	missense variant	-	NC_000013.11:g.41891421C>G	TOPMed,gnomAD
rs1483955383	p.Arg217Ter	stop gained	-	NC_000013.11:g.41891422G>A	gnomAD
rs754590759	p.Arg217Gln	missense variant	-	NC_000013.11:g.41891421C>T	TOPMed,gnomAD
rs754590759	p.Arg217Leu	missense variant	-	NC_000013.11:g.41891421C>A	TOPMed,gnomAD
rs754590759	p.Arg217Gln	missense variant	-	NC_000013.11:g.41891421C>T	NCI-TCGA,NCI-TCGA Cosmic
rs377468550	p.Lys221Arg	missense variant	-	NC_000013.11:g.41887351T>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu223Ter	stop gained	-	NC_000013.11:g.41887346C>A	NCI-TCGA
rs758858374	p.Glu223Val	missense variant	-	NC_000013.11:g.41887345T>A	ExAC,TOPMed,gnomAD
rs758858374	p.Glu223Gly	missense variant	-	NC_000013.11:g.41887345T>C	ExAC,TOPMed,gnomAD
rs753050136	p.Glu223Asp	missense variant	-	NC_000013.11:g.41887344C>A	ExAC,TOPMed,gnomAD
COSM1366925	p.Glu223SerPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000013.11:g.41887347T>-	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asp225Gly	missense variant	-	NC_000013.11:g.41887339T>C	NCI-TCGA
rs1019106943	p.Asp225Val	missense variant	-	NC_000013.11:g.41887339T>A	TOPMed,gnomAD
rs1019106943	p.Asp225Ala	missense variant	-	NC_000013.11:g.41887339T>G	TOPMed,gnomAD
COSM3813835	p.Ser226Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41887336G>C	NCI-TCGA Cosmic
rs765527614	p.Ile229Val	missense variant	-	NC_000013.11:g.41887328T>C	ExAC,gnomAD
rs759964690	p.Arg231Ter	stop gained	-	NC_000013.11:g.41887322G>A	ExAC,TOPMed,gnomAD
rs139208404	p.Arg231Gln	missense variant	-	NC_000013.11:g.41887321C>T	ESP,ExAC,gnomAD
rs766637826	p.Val232Ile	missense variant	-	NC_000013.11:g.41887319C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val232Ala	missense variant	-	NC_000013.11:g.41887318A>G	NCI-TCGA
rs760715102	p.Phe236Val	missense variant	-	NC_000013.11:g.41887307A>C	ExAC,gnomAD
rs370333106	p.Arg237Ter	stop gained	-	NC_000013.11:g.41887304G>A	ExAC,TOPMed,gnomAD
rs150669026	p.Arg237Gln	missense variant	-	NC_000013.11:g.41887303C>T	ESP,ExAC,TOPMed,gnomAD
COSM469440	p.Ile239Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41887297A>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu241SerPheSerTerUnkUnk	frameshift	-	NC_000013.11:g.41887282_41887292GGCAAGCCCAA>-	NCI-TCGA
rs201868054	p.Val245Leu	missense variant	-	NC_000013.11:g.41887280C>A	ExAC,TOPMed,gnomAD
rs201868054	p.Val245Met	missense variant	-	NC_000013.11:g.41887280C>T	ExAC,TOPMed,gnomAD
rs1268573975	p.Pro246Ser	missense variant	-	NC_000013.11:g.41887277G>A	gnomAD
rs1332303699	p.Arg247Ser	missense variant	-	NC_000013.11:g.41887272C>A	gnomAD
rs769707026	p.Arg247Gly	missense variant	-	NC_000013.11:g.41887274T>C	ExAC,TOPMed,gnomAD
rs745715626	p.Tyr248Phe	missense variant	-	NC_000013.11:g.41887270T>A	ExAC,gnomAD
rs752841506	p.Tyr248Ter	stop gained	-	NC_000013.11:g.41887269A>C	ExAC,gnomAD
COSM947502	p.Tyr248His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41887271A>G	NCI-TCGA Cosmic
rs1164373092	p.Asn251Thr	missense variant	-	NC_000013.11:g.41887261T>G	TOPMed
NCI-TCGA novel	p.Pro252Ser	missense variant	-	NC_000013.11:g.41887259G>A	NCI-TCGA
rs770743555	p.Asp254Glu	missense variant	-	NC_000013.11:g.41887251G>T	ExAC,TOPMed,gnomAD
rs1364878402	p.Pro255His	missense variant	-	NC_000013.11:g.41887249G>T	gnomAD
rs777168545	p.Pro255Ser	missense variant	-	NC_000013.11:g.41887250G>A	ExAC,gnomAD
rs777168545	p.Pro255Ala	missense variant	-	NC_000013.11:g.41887250G>C	ExAC,gnomAD
rs1321721303	p.Pro256Ser	missense variant	-	NC_000013.11:g.41887247G>A	gnomAD
rs1321721303	p.Pro256Ala	missense variant	-	NC_000013.11:g.41887247G>C	gnomAD
rs895721371	p.Pro256Arg	missense variant	-	NC_000013.11:g.41887246G>C	TOPMed
rs372610625	p.Arg258Leu	missense variant	-	NC_000013.11:g.41887240C>A	ESP,ExAC,TOPMed,gnomAD
rs141866968	p.Arg258Cys	missense variant	-	NC_000013.11:g.41887241G>A	ESP,ExAC,TOPMed,gnomAD
rs372610625	p.Arg258His	missense variant	-	NC_000013.11:g.41887240C>T	ESP,ExAC,TOPMed,gnomAD
rs779458084	p.Arg260Gln	missense variant	-	NC_000013.11:g.41887234C>T	ExAC,gnomAD
rs1395047116	p.Arg260Ter	stop gained	-	NC_000013.11:g.41887235G>A	TOPMed
rs779458084	p.Arg260Leu	missense variant	-	NC_000013.11:g.41887234C>A	ExAC,gnomAD
rs779458084	p.Arg260Gln	missense variant	-	NC_000013.11:g.41887234C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gln262Ter	stop gained	-	NC_000013.11:g.41887229G>A	NCI-TCGA
rs148125450	p.Gln262Pro	missense variant	-	NC_000013.11:g.41887228T>G	ESP,ExAC,TOPMed,gnomAD
rs575177030	p.Ala263Thr	missense variant	-	NC_000013.11:g.41887226C>T	1000Genomes,ExAC,gnomAD
rs766548324	p.Asp265Asn	missense variant	-	NC_000013.11:g.41887220C>T	ExAC,gnomAD
rs766548324	p.Asp265Tyr	missense variant	-	NC_000013.11:g.41887220C>A	ExAC,gnomAD
rs1231144495	p.Tyr267Cys	missense variant	-	NC_000013.11:g.41887213T>C	TOPMed
rs750461469	p.Pro270Leu	missense variant	-	NC_000013.11:g.41887204G>A	ExAC,gnomAD
rs755511434	p.Gln274His	missense variant	-	NC_000013.11:g.41886825T>G	ExAC,gnomAD
rs1294433691	p.Gln274Lys	missense variant	-	NC_000013.11:g.41886827G>T	gnomAD
rs754155073	p.Leu275Pro	missense variant	-	NC_000013.11:g.41886823A>G	ExAC,gnomAD
rs1356227236	p.Lys276Gln	missense variant	-	NC_000013.11:g.41886821T>G	gnomAD
rs1189420583	p.Lys276Arg	missense variant	-	NC_000013.11:g.41886820T>C	TOPMed
rs756291611	p.Leu277Ter	stop gained	-	NC_000013.11:g.41886817A>T	ExAC,gnomAD
rs138269345	p.Leu277Phe	missense variant	-	NC_000013.11:g.41886816C>A	1000Genomes,ESP,ExAC,TOPMed
rs767837226	p.Tyr279His	missense variant	-	NC_000013.11:g.41886812A>G	ExAC,TOPMed,gnomAD
rs757262503	p.Ile281Val	missense variant	-	NC_000013.11:g.41886806T>C	ExAC,TOPMed,gnomAD
rs751725027	p.Ile281Thr	missense variant	-	NC_000013.11:g.41886805A>G	ExAC,TOPMed,gnomAD
rs375902474	p.Gly282Glu	missense variant	-	NC_000013.11:g.41886802C>T	ESP,ExAC,TOPMed,gnomAD
rs41288299	p.Asn284Ile	missense variant	-	NC_000013.11:g.41886796T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs41288299	p.Asn284Ser	missense variant	-	NC_000013.11:g.41886796T>C	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala287Val	missense variant	-	NC_000013.11:g.41886787G>A	NCI-TCGA
NCI-TCGA novel	p.Lys289Glu	missense variant	-	NC_000013.11:g.41886782T>C	NCI-TCGA
rs1402556698	p.Val290Phe	missense variant	-	NC_000013.11:g.41886027C>A	TOPMed
rs1157916110	p.Gln292Leu	missense variant	-	NC_000013.11:g.41886020T>A	gnomAD
rs1410601044	p.Thr298Ile	missense variant	-	NC_000013.11:g.41886002G>A	gnomAD
rs773786136	p.Thr299Ile	missense variant	-	NC_000013.11:g.41885999G>A	ExAC,gnomAD
rs143649570	p.Thr299Ala	missense variant	-	NC_000013.11:g.41886000T>C	ESP,ExAC,TOPMed,gnomAD
rs768148813	p.Gln303Arg	missense variant	-	NC_000013.11:g.41885987T>C	ExAC,gnomAD
COSM947501	p.Glu304Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000013.11:g.41885985C>A	NCI-TCGA Cosmic
rs748851334	p.Ser305Thr	missense variant	-	NC_000013.11:g.41885982A>T	ExAC,TOPMed,gnomAD
COSM3468945	p.Ser306Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41885978G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Thr307Pro	missense variant	-	NC_000013.11:g.41885976T>G	NCI-TCGA
rs770368970	p.Gly309Arg	missense variant	-	NC_000013.11:g.41885970C>G	ExAC,gnomAD
rs189844979	p.Pro311Leu	missense variant	-	NC_000013.11:g.41885963G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1284685156	p.Pro314Leu	missense variant	-	NC_000013.11:g.41885954G>A	gnomAD
rs1355505112	p.Pro314Ser	missense variant	-	NC_000013.11:g.41885955G>A	gnomAD
rs549867896	p.Asp316Gly	missense variant	-	NC_000013.11:g.41885948T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1483729432	p.Ser317Gly	missense variant	-	NC_000013.11:g.41885946T>C	TOPMed
rs1435288943	p.Ala320Val	missense variant	-	NC_000013.11:g.41885936G>A	NCI-TCGA
rs1240997051	p.Ala320Ser	missense variant	-	NC_000013.11:g.41885937C>A	TOPMed
rs1435288943	p.Ala320Val	missense variant	-	NC_000013.11:g.41885936G>A	gnomAD
rs758531436	p.Ala321Val	missense variant	-	NC_000013.11:g.41885933G>A	ExAC,TOPMed,gnomAD
rs758531436	p.Ala321Gly	missense variant	-	NC_000013.11:g.41885933G>C	ExAC,TOPMed,gnomAD
rs1413957448	p.Val322Ile	missense variant	-	NC_000013.11:g.41885931C>T	gnomAD
COSM4047656	p.Gln323His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41885926T>G	NCI-TCGA Cosmic
rs779815752	p.Ile324Val	missense variant	-	NC_000013.11:g.41885925T>C	ExAC,TOPMed,gnomAD
rs755940440	p.Phe328Leu	missense variant	-	NC_000013.11:g.41883485A>G	ExAC,gnomAD
rs1159810332	p.Phe328Ser	missense variant	-	NC_000013.11:g.41883484A>G	TOPMed
rs144851098	p.Met330Val	missense variant	-	NC_000013.11:g.41883479T>C	ESP,ExAC,TOPMed,gnomAD
rs1165695453	p.Met331Val	missense variant	-	NC_000013.11:g.41883476T>C	TOPMed
NCI-TCGA novel	p.Pro332Leu	missense variant	-	NC_000013.11:g.41883472G>A	NCI-TCGA
NCI-TCGA novel	p.Pro332Gln	missense variant	-	NC_000013.11:g.41883472G>T	NCI-TCGA
rs1247303934	p.Pro332Ser	missense variant	-	NC_000013.11:g.41883473G>A	gnomAD
rs1436039001	p.Ile333Asn	missense variant	-	NC_000013.11:g.41883469A>T	TOPMed
rs201505982	p.Ile333Val	missense variant	-	NC_000013.11:g.41883470T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1375295992	p.His335Tyr	missense variant	-	NC_000013.11:g.41883464G>A	TOPMed
rs751391914	p.Ala336Ser	missense variant	-	NC_000013.11:g.41883461C>A	ExAC,gnomAD
rs763692921	p.Ala336Val	missense variant	-	NC_000013.11:g.41883460G>A	ExAC,gnomAD
rs141126893	p.Ile337Val	missense variant	-	NC_000013.11:g.41883458T>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln338His	missense variant	-	NC_000013.11:g.41883453C>G	NCI-TCGA
rs1218266868	p.Tyr341His	missense variant	-	NC_000013.11:g.41883446A>G	gnomAD
rs1367887582	p.Pro342Thr	missense variant	-	NC_000013.11:g.41883443G>T	gnomAD
NCI-TCGA novel	p.Tyr343His	missense variant	-	NC_000013.11:g.41883440A>G	NCI-TCGA
rs759033768	p.Tyr343Cys	missense variant	-	NC_000013.11:g.41883439T>C	ExAC,gnomAD
rs771607918	p.Ser344Ile	missense variant	-	NC_000013.11:g.41883436C>A	ExAC,TOPMed,gnomAD
rs1289987474	p.Ile345Met	missense variant	-	NC_000013.11:g.41883432A>C	TOPMed
rs773735210	p.His349Arg	missense variant	-	NC_000013.11:g.41883421T>C	ExAC,gnomAD
rs1345638924	p.Glu350Gln	missense variant	-	NC_000013.11:g.41883419C>G	gnomAD
rs199583559	p.Glu350Asp	missense variant	-	NC_000013.11:g.41883417T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs779074342	p.Val355Met	missense variant	-	NC_000013.11:g.41883404C>T	ExAC
rs1192940446	p.Gly357Asp	missense variant	-	NC_000013.11:g.41883397C>T	gnomAD
rs144977057	p.Val358Ile	missense variant	-	NC_000013.11:g.41883395C>T	ESP,ExAC,TOPMed,gnomAD
COSM1366923	p.Leu359Ter	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000013.11:g.41883391A>-	NCI-TCGA Cosmic
rs1238168925	p.Lys360Met	missense variant	-	NC_000013.11:g.41883388T>A	TOPMed
rs150362686	p.Arg361Leu	missense variant	-	NC_000013.11:g.41868476C>A	ESP,ExAC,TOPMed,gnomAD
rs150362686	p.Arg361His	missense variant	-	NC_000013.11:g.41868476C>T	ESP,ExAC,TOPMed,gnomAD
rs61752290	p.Arg361Cys	missense variant	-	NC_000013.11:g.41868477G>A	ESP,ExAC,TOPMed,gnomAD
rs1395995926	p.Glu363Gly	missense variant	-	NC_000013.11:g.41868470T>C	TOPMed,gnomAD
rs1380340862	p.Gln365Pro	missense variant	-	NC_000013.11:g.41868464T>G	gnomAD
NCI-TCGA novel	p.Asp366Asn	missense variant	-	NC_000013.11:g.41868462C>T	NCI-TCGA
rs773647628	p.Asp366Tyr	missense variant	-	NC_000013.11:g.41868462C>A	ExAC
NCI-TCGA novel	p.Ser369Ile	missense variant	-	NC_000013.11:g.41868452C>A	NCI-TCGA
rs140188669	p.Ser369Thr	missense variant	-	NC_000013.11:g.41868452C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1433099976	p.Ser370Ala	missense variant	-	NC_000013.11:g.41868450A>C	gnomAD
rs1029627703	p.Ser370Phe	missense variant	-	NC_000013.11:g.41868449G>A	gnomAD
rs1159953549	p.Leu371Val	missense variant	-	NC_000013.11:g.41868447G>C	TOPMed,gnomAD
rs774607218	p.Leu372Val	missense variant	-	NC_000013.11:g.41868444G>C	ExAC,TOPMed,gnomAD
rs774607218	p.Leu372Ile	missense variant	-	NC_000013.11:g.41868444G>T	ExAC,TOPMed,gnomAD
rs774607218	p.Leu372Phe	missense variant	-	NC_000013.11:g.41868444G>A	ExAC,TOPMed,gnomAD
rs768798332	p.Pro373Leu	missense variant	-	NC_000013.11:g.41868440G>A	ExAC,TOPMed,gnomAD
COSM3813834	p.Pro373Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41868441G>A	NCI-TCGA Cosmic
rs915194239	p.Lys374Arg	missense variant	-	NC_000013.11:g.41868437T>C	TOPMed
rs367695316	p.Lys374Asn	missense variant	-	NC_000013.11:g.41868436T>A	ESP,ExAC,TOPMed,gnomAD
rs61752291	p.Glu375Asp	missense variant	-	NC_000013.11:g.41868433C>A	ExAC,gnomAD
rs775565606	p.Glu375Lys	missense variant	-	NC_000013.11:g.41868435C>T	ExAC,gnomAD
rs1186449380	p.Glu375Gly	missense variant	-	NC_000013.11:g.41868434T>C	gnomAD
rs746952389	p.Ile376Thr	missense variant	-	NC_000013.11:g.41868431A>G	ExAC,gnomAD
rs1210259933	p.Val377Leu	missense variant	-	NC_000013.11:g.41868429C>A	TOPMed,gnomAD
rs777752424	p.Lys378Arg	missense variant	-	NC_000013.11:g.41868425T>C	ExAC,gnomAD
rs1318361336	p.Val379Ile	missense variant	-	NC_000013.11:g.41868423C>T	TOPMed
rs1432365370	p.Lys381Glu	missense variant	-	NC_000013.11:g.41868417T>C	TOPMed
rs3742262	p.Met383Thr	missense variant	-	NC_000013.11:g.41868410A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs3742262	p.Met383Thr	missense variant	-	NC_000013.11:g.41868410A>G	UniProt,dbSNP
VAR_044338	p.Met383Thr	missense variant	-	NC_000013.11:g.41868410A>G	UniProt
rs373599044	p.Met383Val	missense variant	-	NC_000013.11:g.41868411T>C	ESP
rs144180077	p.Met383Ile	missense variant	-	NC_000013.11:g.41868409C>T	ESP,ExAC,TOPMed,gnomAD
rs3742262	p.Met383Lys	missense variant	-	NC_000013.11:g.41868410A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs753332078	p.Glu384Gly	missense variant	-	NC_000013.11:g.41868407T>C	ExAC,TOPMed,gnomAD
rs765994877	p.Asn385Ser	missense variant	-	NC_000013.11:g.41868404T>C	ExAC,gnomAD
rs1321442211	p.His386Arg	missense variant	-	NC_000013.11:g.41868401T>C	TOPMed,gnomAD
rs1321442211	p.His386Pro	missense variant	-	NC_000013.11:g.41868401T>G	TOPMed,gnomAD
rs755756281	p.Val387Leu	missense variant	-	NC_000013.11:g.41868399C>A	ExAC,gnomAD
NCI-TCGA novel	p.Ser388Phe	missense variant	-	NC_000013.11:g.41868395G>A	NCI-TCGA
rs768190464	p.Gln389Ter	stop gained	-	NC_000013.11:g.41868393G>A	ExAC,TOPMed,gnomAD
rs536324286	p.Ala390Val	missense variant	-	NC_000013.11:g.41868389G>A	gnomAD
rs762203197	p.Ala390Pro	missense variant	-	NC_000013.11:g.41868390C>G	ExAC,gnomAD
rs764324144	p.Ser391Ala	missense variant	-	NC_000013.11:g.41868387A>C	ExAC,gnomAD
NCI-TCGA novel	p.Val392Gly	missense variant	-	NC_000013.11:g.41868383A>C	NCI-TCGA
rs140268494	p.Val392Ala	missense variant	-	NC_000013.11:g.41868383A>G	ESP,ExAC,TOPMed,gnomAD
rs1194866971	p.Thr393Asn	missense variant	-	NC_000013.11:g.41868380G>T	gnomAD
rs775480070	p.Thr393Pro	missense variant	-	NC_000013.11:g.41868381T>G	ExAC,gnomAD
rs769859050	p.Arg395Trp	missense variant	-	NC_000013.11:g.41868375G>A	ExAC,TOPMed,gnomAD
rs190136021	p.Arg395Gln	missense variant	-	NC_000013.11:g.41868374C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1454594127	p.Ala397Thr	missense variant	-	NC_000013.11:g.41868369C>T	TOPMed
rs773104582	p.Asp398Val	missense variant	-	NC_000013.11:g.41868365T>A	ExAC,gnomAD
rs773104582	p.Asp398Gly	missense variant	-	NC_000013.11:g.41868365T>C	ExAC,gnomAD
rs1294615042	p.Lys399Glu	missense variant	-	NC_000013.11:g.41868363T>C	gnomAD
rs1025646760	p.Glu400Gln	missense variant	-	NC_000013.11:g.41868360C>G	TOPMed
NCI-TCGA novel	p.Val401Met	missense variant	-	NC_000013.11:g.41868357C>T	NCI-TCGA
rs771936205	p.Val401Glu	missense variant	-	NC_000013.11:g.41868356A>T	ExAC,TOPMed,gnomAD
rs373638942	p.Thr402Ile	missense variant	-	NC_000013.11:g.41868353G>A	ESP,ExAC,TOPMed,gnomAD
rs373638942	p.Thr402Asn	missense variant	-	NC_000013.11:g.41868353G>T	ESP,ExAC,TOPMed,gnomAD
rs747303832	p.Ile403Leu	missense variant	-	NC_000013.11:g.41868351T>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys404Thr	missense variant	-	NC_000013.11:g.41868347T>G	NCI-TCGA
rs1401298041	p.Pro406Leu	missense variant	-	NC_000013.11:g.41866032G>A	gnomAD
rs1470791211	p.Ala407Gly	missense variant	-	NC_000013.11:g.41866029G>C	gnomAD
rs1172769893	p.Ala407Thr	missense variant	-	NC_000013.11:g.41866030C>T	TOPMed,gnomAD
COSM1366922	p.Ala407Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41866030C>G	NCI-TCGA Cosmic
rs17062601	p.Gly408Arg	missense variant	-	NC_000013.11:g.41866027C>T	UniProt,dbSNP
VAR_044339	p.Gly408Arg	missense variant	-	NC_000013.11:g.41866027C>T	UniProt
rs17062601	p.Gly408Arg	missense variant	-	NC_000013.11:g.41866027C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs368920557	p.Thr409Ile	missense variant	-	NC_000013.11:g.41866023G>A	ESP,ExAC,TOPMed,gnomAD
rs913077065	p.Leu411Pro	missense variant	-	NC_000013.11:g.41866017A>G	TOPMed
rs186045616	p.Leu412Phe	missense variant	-	NC_000013.11:g.41866013T>A	1000Genomes,ExAC,TOPMed,gnomAD
COSM337000	p.Ser413Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41866012T>C	NCI-TCGA Cosmic
rs780576258	p.Gln414Ter	stop gained	-	NC_000013.11:g.41866009G>A	ExAC,gnomAD
rs1422235652	p.Pro415Ser	missense variant	-	NC_000013.11:g.41866006G>A	TOPMed
rs988675461	p.Pro415Leu	missense variant	-	NC_000013.11:g.41866005G>A	TOPMed,gnomAD
rs148797761	p.Ala417Val	missense variant	-	NC_000013.11:g.41865999G>A	ESP,ExAC,TOPMed,gnomAD
rs1281192147	p.Ser418Ter	stop gained	-	NC_000013.11:g.41865996G>C	gnomAD
rs1351255280	p.Ser418Thr	missense variant	-	NC_000013.11:g.41865997A>T	gnomAD
rs546608189	p.Asp419Glu	missense variant	-	NC_000013.11:g.41865992G>T	1000Genomes,ExAC,gnomAD
rs765397161	p.Arg420His	missense variant	-	NC_000013.11:g.41865990C>T	ExAC,gnomAD
rs149624650	p.Arg420Cys	missense variant	-	NC_000013.11:g.41865991G>A	ESP,ExAC,TOPMed,gnomAD
rs149624650	p.Arg420Ser	missense variant	-	NC_000013.11:g.41865991G>T	ESP,ExAC,TOPMed,gnomAD
rs1454197855	p.Phe421Cys	missense variant	-	NC_000013.11:g.41865987A>C	TOPMed,gnomAD
rs759768480	p.Ile422Met	missense variant	-	NC_000013.11:g.41865983T>C	ExAC,gnomAD
rs1386037052	p.Ile422Leu	missense variant	-	NC_000013.11:g.41865985T>A	gnomAD
NCI-TCGA novel	p.Gln423His	missense variant	-	NC_000013.11:g.41865980C>A	NCI-TCGA
rs753849620	p.Gln423Leu	missense variant	-	NC_000013.11:g.41865981T>A	ExAC,gnomAD
rs766368344	p.Leu425Ter	stop gained	-	NC_000013.11:g.41865975A>T	ExAC,gnomAD
rs1316392756	p.Ser426Asn	missense variant	-	NC_000013.11:g.41865972C>T	TOPMed
rs760871639	p.His427Arg	missense variant	-	NC_000013.11:g.41865969T>C	ExAC,gnomAD
rs953420712	p.Lys428Arg	missense variant	-	NC_000013.11:g.41865966T>C	TOPMed
rs774136328	p.Gln429Arg	missense variant	-	NC_000013.11:g.41865963T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln431His	missense variant	-	NC_000013.11:g.41865956C>A	NCI-TCGA
rs1308268087	p.Met435Val	missense variant	-	NC_000013.11:g.41865946T>C	gnomAD
rs542752059	p.Met435Ile	missense variant	-	NC_000013.11:g.41865944C>T	1000Genomes,ExAC,gnomAD
rs372912149	p.Ser437Phe	missense variant	-	NC_000013.11:g.41865939G>A	ESP,ExAC,TOPMed,gnomAD
rs775444732	p.His438Gln	missense variant	-	NC_000013.11:g.41865935G>T	ExAC
rs1275438476	p.Met439Ile	missense variant	-	NC_000013.11:g.41865932C>T	TOPMed,gnomAD
rs769508456	p.Met439Val	missense variant	-	NC_000013.11:g.41865934T>C	ExAC,gnomAD
rs1447627492	p.Lys441Glu	missense variant	-	NC_000013.11:g.41865928T>C	gnomAD
NCI-TCGA novel	p.Asp442Tyr	missense variant	-	NC_000013.11:g.41865925C>A	NCI-TCGA
rs369769622	p.Asp442His	missense variant	-	NC_000013.11:g.41865925C>G	ESP,ExAC,TOPMed,gnomAD
rs1226524084	p.Asp442Glu	missense variant	-	NC_000013.11:g.41865923A>T	TOPMed,gnomAD
rs139296787	p.Ile443Val	missense variant	-	NC_000013.11:g.41865922T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs139296787	p.Ile443Leu	missense variant	-	NC_000013.11:g.41865922T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs746575842	p.Ile443Thr	missense variant	-	NC_000013.11:g.41865921A>G	ExAC,TOPMed,gnomAD
rs746575842	p.Ile443Arg	missense variant	-	NC_000013.11:g.41865921A>C	ExAC,TOPMed,gnomAD
rs146325541	p.Cys444Tyr	missense variant	-	NC_000013.11:g.41865918C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs146325541	p.Cys444Phe	missense variant	-	NC_000013.11:g.41865918C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs902070992	p.Cys444Arg	missense variant	-	NC_000013.11:g.41865919A>G	TOPMed
rs1315560228	p.Ile446Val	missense variant	-	NC_000013.11:g.41865913T>C	gnomAD
rs758928828	p.Gly447Glu	missense variant	-	NC_000013.11:g.41865909C>T	ExAC,gnomAD
rs1362826820	p.Gly447Arg	missense variant	-	NC_000013.11:g.41865910C>T	gnomAD
rs1454939949	p.Gly448Glu	missense variant	-	NC_000013.11:g.41865906C>T	TOPMed
rs748456580	p.Lys449Thr	missense variant	-	NC_000013.11:g.41865903T>G	ExAC,TOPMed,gnomAD
rs776124885	p.Cys451Phe	missense variant	-	NC_000013.11:g.41865809C>A	ExAC,gnomAD
rs776124885	p.Cys451Tyr	missense variant	-	NC_000013.11:g.41865809C>T	ExAC,gnomAD
NCI-TCGA novel	p.Gly452Val	missense variant	-	NC_000013.11:g.41865806C>A	NCI-TCGA
rs770655085	p.Lys453Arg	missense variant	-	NC_000013.11:g.41865803T>C	ExAC,gnomAD
rs186939342	p.Ala457Thr	missense variant	-	NC_000013.11:g.41865792C>T	1000Genomes,ExAC,gnomAD
rs138791520	p.Lys458Ter	stop gained	-	NC_000013.11:g.41865789T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1254734087	p.Ala461Gly	missense variant	-	NC_000013.11:g.41865779G>C	gnomAD
rs370956684	p.Ala461Pro	missense variant	-	NC_000013.11:g.41865780C>G	ESP,ExAC,TOPMed,gnomAD
rs61744773	p.Asp462Asn	missense variant	-	NC_000013.11:g.41865777C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1189743674	p.Thr463Ile	missense variant	-	NC_000013.11:g.41865773G>A	TOPMed,gnomAD
rs1477721594	p.Asn467Asp	missense variant	-	NC_000013.11:g.41865762T>C	gnomAD
rs749705341	p.Ile468Thr	missense variant	-	NC_000013.11:g.41865758A>G	ExAC,gnomAD
rs925745125	p.Ile468Val	missense variant	-	NC_000013.11:g.41865759T>C	TOPMed
rs1201480363	p.Pro470Ser	missense variant	-	NC_000013.11:g.41865753G>A	gnomAD
rs199670827	p.Ile471Val	missense variant	-	NC_000013.11:g.41865750T>C	ExAC,TOPMed,gnomAD
rs1268420974	p.Met472Thr	missense variant	-	NC_000013.11:g.41865746A>G	TOPMed
rs1224413524	p.Tyr474Cys	missense variant	-	NC_000013.11:g.41865740T>C	TOPMed
rs750410478	p.Tyr474His	missense variant	-	NC_000013.11:g.41865741A>G	ExAC,gnomAD
rs1386932266	p.Met477Ile	missense variant	-	NC_000013.11:g.41833526C>T	gnomAD
rs1186263616	p.Thr478Ser	missense variant	-	NC_000013.11:g.41833525T>A	gnomAD
rs1186263616	p.Thr478Ala	missense variant	-	NC_000013.11:g.41833525T>C	gnomAD
NCI-TCGA novel	p.Ala479Thr	missense variant	-	NC_000013.11:g.41833522C>T	NCI-TCGA
rs763516783	p.Ala479Val	missense variant	-	NC_000013.11:g.41833521G>A	ExAC,TOPMed,gnomAD
rs369778717	p.Arg480Pro	missense variant	-	NC_000013.11:g.41833518C>G	ESP,ExAC,TOPMed,gnomAD
rs369778717	p.Arg480His	missense variant	-	NC_000013.11:g.41833518C>T	ESP,ExAC,TOPMed,gnomAD
rs61752292	p.Arg480Cys	missense variant	-	NC_000013.11:g.41833519G>A	ExAC,TOPMed,gnomAD
rs369778717	p.Arg480His	missense variant	-	NC_000013.11:g.41833518C>T	NCI-TCGA
rs1222455250	p.Leu483Pro	missense variant	-	NC_000013.11:g.41833509A>G	gnomAD
rs1284867196	p.Gln484Ter	stop gained	-	NC_000013.11:g.41833507G>A	TOPMed,gnomAD
rs1388881282	p.Arg486Gly	missense variant	-	NC_000013.11:g.41833501T>C	TOPMed,gnomAD
rs998093353	p.Tyr487Asn	missense variant	-	NC_000013.11:g.41833498A>T	TOPMed,gnomAD
rs1360615919	p.Thr488Ala	missense variant	-	NC_000013.11:g.41833495T>C	gnomAD
rs771309683	p.Leu489Pro	missense variant	-	NC_000013.11:g.41833491A>G	ExAC,gnomAD
rs771309683	p.Leu489Arg	missense variant	-	NC_000013.11:g.41833491A>C	ExAC,gnomAD
rs778005373	p.Asp493Val	missense variant	-	NC_000013.11:g.41833479T>A	ExAC,gnomAD
rs1365645763	p.Ala495Thr	missense variant	-	NC_000013.11:g.41833474C>T	gnomAD
NCI-TCGA novel	p.Arg497Gln	missense variant	-	NC_000013.11:g.41833467C>T	NCI-TCGA
rs753803187	p.Arg497Trp	missense variant	-	NC_000013.11:g.41833468G>A	ExAC,TOPMed,gnomAD
rs1367142530	p.Ser498Pro	missense variant	-	NC_000013.11:g.41833465A>G	gnomAD
rs1166488020	p.Ser499Leu	missense variant	-	NC_000013.11:g.41833461G>A	gnomAD
rs1015860684	p.Ser499Thr	missense variant	-	NC_000013.11:g.41833462A>T	TOPMed
rs1166488020	p.Ser499Leu	missense variant	-	NC_000013.11:g.41833461G>A	NCI-TCGA
NCI-TCGA novel	p.Asn503Asp	missense variant	-	NC_000013.11:g.41833450T>C	NCI-TCGA
rs755909204	p.Asn503Ser	missense variant	-	NC_000013.11:g.41833449T>C	ExAC,TOPMed,gnomAD
rs1430917224	p.Leu506Gln	missense variant	-	NC_000013.11:g.41833440A>T	gnomAD
rs767112124	p.Gly508Ser	missense variant	-	NC_000013.11:g.41833435C>T	ExAC,gnomAD
rs199993820	p.Lys509Arg	missense variant	-	NC_000013.11:g.41833431T>C	1000Genomes,ExAC,gnomAD
rs763718875	p.Lys509Asn	missense variant	-	NC_000013.11:g.41833430C>G	TOPMed
rs1005355483	p.Leu510Val	missense variant	-	NC_000013.11:g.41833429G>C	TOPMed
COSM1322887	p.Val511Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41833426C>A	NCI-TCGA Cosmic
rs1490660402	p.Asp514Gly	missense variant	-	NC_000013.11:g.41833416T>C	gnomAD
rs1271414675	p.Gly515Asp	missense variant	-	NC_000013.11:g.41833413C>T	NCI-TCGA
rs1271414675	p.Gly515Asp	missense variant	-	NC_000013.11:g.41833413C>T	gnomAD
rs1338931041	p.His517Arg	missense variant	-	NC_000013.11:g.41833407T>C	gnomAD
rs776040339	p.Arg518Leu	missense variant	-	NC_000013.11:g.41833404C>A	ExAC,TOPMed,gnomAD
rs776040339	p.Arg518Pro	missense variant	-	NC_000013.11:g.41833404C>G	ExAC,TOPMed,gnomAD
rs375266930	p.Arg518Trp	missense variant	-	NC_000013.11:g.41833405G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs776040339	p.Arg518Gln	missense variant	-	NC_000013.11:g.41833404C>T	ExAC,TOPMed,gnomAD
rs375266930	p.Arg518Gly	missense variant	-	NC_000013.11:g.41833405G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs370489685	p.Ala521Val	missense variant	-	NC_000013.11:g.41833395G>A	ESP,ExAC,TOPMed,gnomAD
rs765701971	p.Ala521Thr	missense variant	-	NC_000013.11:g.41833396C>T	ExAC,gnomAD
rs370489685	p.Ala521Glu	missense variant	-	NC_000013.11:g.41833395G>T	ESP,ExAC,TOPMed,gnomAD
rs1347356087	p.Gly522Ser	missense variant	-	NC_000013.11:g.41833393C>T	gnomAD
COSM696557	p.Gly522Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41833392C>A	NCI-TCGA Cosmic
rs773626984	p.Thr523Met	missense variant	-	NC_000013.11:g.41833389G>A	ExAC,TOPMed,gnomAD
rs202209711	p.Thr523Pro	missense variant	-	NC_000013.11:g.41833390T>G	ExAC,gnomAD
rs1200778063	p.Leu524Phe	missense variant	-	NC_000013.11:g.41833387G>A	TOPMed
rs748219983	p.Ala525Ser	missense variant	-	NC_000013.11:g.41833384C>A	ExAC,gnomAD
rs780003441	p.Val526Ile	missense variant	-	NC_000013.11:g.41833381C>T	ExAC,TOPMed,gnomAD
rs756032217	p.Leu527Phe	missense variant	-	NC_000013.11:g.41833376C>A	ExAC,gnomAD
rs1454310352	p.His532Arg	missense variant	-	NC_000013.11:g.41830634T>C	TOPMed,gnomAD
rs898504770	p.Asp533Val	missense variant	-	NC_000013.11:g.41830631T>A	TOPMed
rs930043999	p.Asp533Tyr	missense variant	-	NC_000013.11:g.41830632C>A	TOPMed
rs1180405587	p.Arg534Ter	stop gained	-	NC_000013.11:g.41830629G>A	NCI-TCGA
rs1180405587	p.Arg534Ter	stop gained	-	NC_000013.11:g.41830629G>A	TOPMed
rs1038338883	p.Arg534Gln	missense variant	-	NC_000013.11:g.41830628C>T	TOPMed
rs145835358	p.Ser537Arg	missense variant	-	NC_000013.11:g.41830618G>C	ESP,ExAC,TOPMed,gnomAD
rs745797795	p.Tyr539Cys	missense variant	-	NC_000013.11:g.41830613T>C	ExAC,gnomAD
NCI-TCGA novel	p.Asp548Tyr	missense variant	-	NC_000013.11:g.41830587C>A	NCI-TCGA
rs1030672676	p.Asp548Asn	missense variant	-	NC_000013.11:g.41830587C>T	gnomAD
rs746843860	p.Arg549Lys	missense variant	-	NC_000013.11:g.41830583C>T	ExAC,gnomAD
rs757021872	p.Arg549Gly	missense variant	-	NC_000013.11:g.41830584T>C	ExAC,gnomAD
NCI-TCGA novel	p.Tyr550His	missense variant	-	NC_000013.11:g.41830581A>G	NCI-TCGA
rs777440694	p.Tyr550Cys	missense variant	-	NC_000013.11:g.41830580T>C	ExAC,TOPMed,gnomAD
rs1446689297	p.Met551Arg	missense variant	-	NC_000013.11:g.41830577A>C	gnomAD
rs373156312	p.Arg552Cys	missense variant	-	NC_000013.11:g.41830575G>A	ESP,ExAC,gnomAD
rs41288297	p.Arg552His	missense variant	-	NC_000013.11:g.41830574C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200753228	p.Lys554Asn	missense variant	-	NC_000013.11:g.41830567C>A	gnomAD
rs754375505	p.Glu555Gly	missense variant	-	NC_000013.11:g.41830565T>C	ExAC,gnomAD
rs1370689701	p.Glu556Asp	missense variant	-	NC_000013.11:g.41830561C>G	TOPMed
COSM1470710	p.Glu556Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41830562T>G	NCI-TCGA Cosmic
rs1247630081	p.Gln558Ter	stop gained	-	NC_000013.11:g.41830557G>A	gnomAD
rs750777272	p.Leu559Pro	missense variant	-	NC_000013.11:g.41830553A>G	ExAC,TOPMed,gnomAD
rs750777272	p.Leu559Gln	missense variant	-	NC_000013.11:g.41830553A>T	ExAC,TOPMed,gnomAD
rs1430793550	p.Ser560Pro	missense variant	-	NC_000013.11:g.41830551A>G	gnomAD
rs1374603133	p.Asp561Asn	missense variant	-	NC_000013.11:g.41830548C>T	NCI-TCGA Cosmic
rs1327721817	p.Asp561Val	missense variant	-	NC_000013.11:g.41830547T>A	gnomAD
rs1374603133	p.Asp561Asn	missense variant	-	NC_000013.11:g.41830548C>T	TOPMed
rs1223304717	p.Glu562Asp	missense variant	-	NC_000013.11:g.41830543T>A	TOPMed
rs1300579803	p.Glu562Lys	missense variant	-	NC_000013.11:g.41830545C>T	gnomAD
rs201603228	p.Gln565Arg	missense variant	-	NC_000013.11:g.41830535T>C	ESP,ExAC,TOPMed,gnomAD
rs539354050	p.Gln565Ter	stop gained	-	NC_000013.11:g.41830536G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1426743095	p.Lys566Arg	missense variant	-	NC_000013.11:g.41830532T>C	gnomAD
rs145075481	p.Arg567Thr	missense variant	-	NC_000013.11:g.41830529C>G	ESP,gnomAD
NCI-TCGA novel	p.Phe570LeuProPhe	insertion	-	NC_000013.11:g.41819380_41819381insGGTAAGAAG	NCI-TCGA
NCI-TCGA novel	p.Phe570AspPheSerTerUnk	stop gained	-	NC_000013.11:g.41819380_41819381insGGTAAGAAGAAAGCCAATCTTAGTCT	NCI-TCGA
COSM1706722	p.Pro571Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41819376G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ile572Asn	missense variant	-	NC_000013.11:g.41819372A>T	NCI-TCGA
rs762977773	p.Ile572Val	missense variant	-	NC_000013.11:g.41819373T>C	ExAC,TOPMed,gnomAD
rs1480039814	p.Ile572Met	missense variant	-	NC_000013.11:g.41819371G>C	gnomAD
NCI-TCGA novel	p.Pro574Ser	missense variant	-	NC_000013.11:g.41819367G>A	NCI-TCGA
rs770795153	p.Pro574Leu	missense variant	-	NC_000013.11:g.41819366G>A	ExAC,gnomAD
rs1489781902	p.Ser575Phe	missense variant	-	NC_000013.11:g.41819363G>A	TOPMed
rs760532703	p.Ile578Val	missense variant	-	NC_000013.11:g.41819355T>C	ExAC,gnomAD
rs1193604242	p.Ala580Thr	missense variant	-	NC_000013.11:g.41819349C>T	gnomAD
rs1204707185	p.Ala582Val	missense variant	-	NC_000013.11:g.41819342G>A	gnomAD
rs773266783	p.Ala582Thr	missense variant	-	NC_000013.11:g.41819343C>T	ExAC,gnomAD
rs202013216	p.Pro584His	missense variant	-	NC_000013.11:g.41819336G>T	ESP,ExAC,TOPMed,gnomAD
rs771741924	p.Pro584Ser	missense variant	-	NC_000013.11:g.41819337G>A	ExAC,gnomAD
rs778670406	p.Val586Phe	missense variant	-	NC_000013.11:g.41819331C>A	ExAC,TOPMed
rs778670406	p.Val586Phe	missense variant	-	NC_000013.11:g.41819331C>A	NCI-TCGA,NCI-TCGA Cosmic
rs1222396556	p.Ile587Thr	missense variant	-	NC_000013.11:g.41819327A>G	gnomAD
rs528201293	p.Ser589Arg	missense variant	-	NC_000013.11:g.41819320G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1413015967	p.Thr590Ile	missense variant	-	NC_000013.11:g.41819318G>A	TOPMed
rs1284453031	p.Ala591Thr	missense variant	-	NC_000013.11:g.41819316C>T	gnomAD
rs1221502472	p.His592Arg	missense variant	-	NC_000013.11:g.41819312T>C	gnomAD
rs151124989	p.Trp594Ter	stop gained	-	NC_000013.11:g.41819305C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs151124989	p.Trp594Cys	missense variant	-	NC_000013.11:g.41819305C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201454257	p.Gly596Val	missense variant	-	NC_000013.11:g.41819300C>A	1000Genomes,ESP,ExAC,gnomAD
rs201454257	p.Gly596Glu	missense variant	-	NC_000013.11:g.41819300C>T	1000Genomes,ESP,ExAC,gnomAD
rs901119213	p.Pro597Ser	missense variant	-	NC_000013.11:g.41819298G>A	TOPMed
rs901119213	p.Pro597Ser	missense variant	-	NC_000013.11:g.41819298G>A	NCI-TCGA Cosmic
COSM3468942	p.Glu598Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41819295C>T	NCI-TCGA Cosmic
rs142910513	p.Leu600Ser	missense variant	-	NC_000013.11:g.41819288A>G	ESP,ExAC,TOPMed,gnomAD
rs764249666	p.Thr601Ile	missense variant	-	NC_000013.11:g.41819285G>A	ExAC,gnomAD
rs764249666	p.Thr601Ile	missense variant	-	NC_000013.11:g.41819285G>A	NCI-TCGA
rs974201691	p.Met602Val	missense variant	-	NC_000013.11:g.41819283T>C	TOPMed
rs758632032	p.Met602Ile	missense variant	-	NC_000013.11:g.41819281C>T	ExAC,TOPMed,gnomAD
rs752707002	p.Phe604Leu	missense variant	-	NC_000013.11:g.41819277A>G	ExAC,gnomAD
COSM3468941	p.Phe604Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41819277A>T	NCI-TCGA Cosmic
rs765297028	p.His606Arg	missense variant	-	NC_000013.11:g.41819270T>C	ExAC,gnomAD
rs759710562	p.Met608Val	missense variant	-	NC_000013.11:g.41819265T>C	ExAC,TOPMed,gnomAD
rs772993272	p.Leu611Phe	missense variant	-	NC_000013.11:g.41819256G>A	ExAC,TOPMed,gnomAD
rs1202684552	p.Leu611Arg	missense variant	-	NC_000013.11:g.41819255A>C	TOPMed,gnomAD
rs767523920	p.Val612Ala	missense variant	-	NC_000013.11:g.41819252A>G	ExAC,gnomAD
COSM3468940	p.Val612Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41819252A>C	NCI-TCGA Cosmic
rs148551844	p.Lys613Asn	missense variant	-	NC_000013.11:g.41819248T>G	ESP,ExAC,TOPMed,gnomAD
rs761468348	p.Lys613Ile	missense variant	-	NC_000013.11:g.41819249T>A	ExAC,TOPMed,gnomAD
rs768360092	p.Ile620Val	missense variant	-	NC_000013.11:g.41819229T>C	ExAC,TOPMed,gnomAD
rs1306673699	p.Ile620Thr	missense variant	-	NC_000013.11:g.41819228A>G	gnomAD
rs748948079	p.Lys623Arg	missense variant	-	NC_000013.11:g.41819219T>C	ExAC,gnomAD
rs1341091313	p.Val624Ala	missense variant	-	NC_000013.11:g.41816774A>G	TOPMed,gnomAD
rs141997392	p.Pro625Leu	missense variant	-	NC_000013.11:g.41816771G>A	ESP,ExAC,TOPMed,gnomAD
rs1167927874	p.Asn626Asp	missense variant	-	NC_000013.11:g.41816769T>C	gnomAD
rs755243649	p.Val627Ile	missense variant	-	NC_000013.11:g.41816766C>T	ExAC,TOPMed,gnomAD
rs1394413146	p.Pro628Ser	missense variant	-	NC_000013.11:g.41816763G>A	NCI-TCGA
rs1394413146	p.Pro628Ser	missense variant	-	NC_000013.11:g.41816763G>A	gnomAD
rs778631498	p.Gln629LeuTerHisGlnArgUnk	stop gained	-	NC_000013.11:g.41816759_41816760insCGCTGATGTTATA	ExAC
rs1261886384	p.Glu630Lys	missense variant	-	NC_000013.11:g.41816757C>T	gnomAD
rs753795785	p.Ala631Thr	missense variant	-	NC_000013.11:g.41816754C>T	ExAC,gnomAD
NCI-TCGA novel	p.Leu632Val	missense variant	-	NC_000013.11:g.41816751G>C	NCI-TCGA
NCI-TCGA novel	p.Lys634Thr	missense variant	-	NC_000013.11:g.41816744T>G	NCI-TCGA
rs751524282	p.Lys634Asn	missense variant	-	NC_000013.11:g.41816743C>G	ExAC,TOPMed,gnomAD
rs756323933	p.Lys634Arg	missense variant	-	NC_000013.11:g.41816744T>C	ExAC,TOPMed,gnomAD
rs764162468	p.Leu635Phe	missense variant	-	NC_000013.11:g.41816740T>A	ExAC,TOPMed,gnomAD
rs752560302	p.Ser637Pro	missense variant	-	NC_000013.11:g.41816736A>G	ExAC
rs1225604075	p.His640Tyr	missense variant	-	NC_000013.11:g.41816727G>A	gnomAD
rs775846977	p.Lys641Gln	missense variant	-	NC_000013.11:g.41816724T>G	ExAC,TOPMed,gnomAD
rs759229890	p.Leu642Phe	missense variant	-	NC_000013.11:g.41816721G>A	ExAC,gnomAD
NCI-TCGA novel	p.Arg643Thr	missense variant	-	NC_000013.11:g.41816717C>G	NCI-TCGA
rs1220319424	p.Glu644Gly	missense variant	-	NC_000013.11:g.41816714T>C	gnomAD
rs1354349391	p.Thr645Pro	missense variant	-	NC_000013.11:g.41816712T>G	TOPMed
NCI-TCGA novel	p.Gln646ThrPheSerTerUnkUnk	frameshift	-	NC_000013.11:g.41816709_41816710insT	NCI-TCGA
rs1343601617	p.Gln646Ter	stop gained	-	NC_000013.11:g.41816709G>A	gnomAD
rs1388102119	p.Asp647Gly	missense variant	-	NC_000013.11:g.41816705T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Thr649AsnTrpGluTyr	insertion	-	NC_000013.11:g.41811340_41811341insATATTCCCAATT	NCI-TCGA
rs1307083625	p.Thr649Ala	missense variant	-	NC_000013.11:g.41816700T>C	TOPMed
rs760226748	p.Thr649Lys	missense variant	-	NC_000013.11:g.41816699G>T	ExAC,TOPMed,gnomAD
rs760226748	p.Thr649Met	missense variant	-	NC_000013.11:g.41816699G>A	ExAC,TOPMed,gnomAD
rs760226748	p.Thr649Arg	missense variant	-	NC_000013.11:g.41816699G>C	ExAC,TOPMed,gnomAD
rs1418677372	p.Ala650Ser	missense variant	-	NC_000013.11:g.41811340C>A	gnomAD
rs1238985422	p.Ala650Val	missense variant	-	NC_000013.11:g.41811339G>A	gnomAD
rs139093046	p.Gln651Glu	missense variant	-	NC_000013.11:g.41811337G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1177557570	p.Gln651Arg	missense variant	-	NC_000013.11:g.41811336T>C	TOPMed
rs1262602184	p.Ser652Ter	stop gained	-	NC_000013.11:g.41811333G>T	gnomAD
rs370360481	p.Ala654Glu	missense variant	-	NC_000013.11:g.41811327G>T	ESP,ExAC,TOPMed,gnomAD
rs370360481	p.Ala654Val	missense variant	-	NC_000013.11:g.41811327G>A	ESP,ExAC,TOPMed,gnomAD
rs1258685830	p.Ala655Pro	missense variant	-	NC_000013.11:g.41811325C>G	TOPMed,gnomAD
rs749650029	p.Ser656Pro	missense variant	-	NC_000013.11:g.41811322A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser658Tyr	missense variant	-	NC_000013.11:g.41811315G>T	NCI-TCGA
rs775745922	p.Thr659Ala	missense variant	-	NC_000013.11:g.41811313T>C	ExAC,gnomAD
rs9562353	p.Arg660Ter	stop gained	-	NC_000013.11:g.41811310T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs9562353	p.Arg660Gly	missense variant	-	NC_000013.11:g.41811310T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1049452641	p.Leu663Trp	missense variant	-	NC_000013.11:g.41811300A>C	TOPMed
rs1049452641	p.Leu663Ser	missense variant	-	NC_000013.11:g.41811300A>G	TOPMed
rs149571852	p.Arg664Leu	missense variant	-	NC_000013.11:g.41811297C>A	ESP,ExAC,TOPMed,gnomAD
rs757480126	p.Arg664Ter	stop gained	-	NC_000013.11:g.41811298G>A	ExAC,TOPMed,gnomAD
rs757480126	p.Arg664Gly	missense variant	-	NC_000013.11:g.41811298G>C	ExAC,TOPMed,gnomAD
rs149571852	p.Arg664Gln	missense variant	-	NC_000013.11:g.41811297C>T	ESP,ExAC,TOPMed,gnomAD
rs753597681	p.Arg667Leu	missense variant	-	NC_000013.11:g.41811288C>A	ExAC,TOPMed,gnomAD
rs572989264	p.Arg667Cys	missense variant	-	NC_000013.11:g.41811289G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs753597681	p.Arg667His	missense variant	-	NC_000013.11:g.41811288C>T	ExAC,TOPMed,gnomAD
rs572989264	p.Arg667Gly	missense variant	-	NC_000013.11:g.41811289G>C	1000Genomes,ExAC,TOPMed,gnomAD
RCV000755133	p.Arg668Gln	missense variant	Nonsyndromic cleft lip palate	NC_000013.11:g.41811285C>T	ClinVar
rs765958170	p.Arg668Trp	missense variant	-	NC_000013.11:g.41811286G>A	ExAC,TOPMed,gnomAD
rs138075452	p.Arg668Gln	missense variant	-	NC_000013.11:g.41811285C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs376324990	p.Leu669Pro	missense variant	-	NC_000013.11:g.41811282A>G	ESP,ExAC,TOPMed,gnomAD
rs750141254	p.Leu669Met	missense variant	-	NC_000013.11:g.41811283G>T	ExAC,gnomAD
rs764535437	p.Gln671Arg	missense variant	-	NC_000013.11:g.41811276T>C	ExAC,TOPMed,gnomAD
rs774887056	p.Gln671Ter	stop gained	-	NC_000013.11:g.41811277G>A	ExAC,TOPMed,gnomAD
rs1259535758	p.Tyr672Phe	missense variant	-	NC_000013.11:g.41811273T>A	TOPMed,gnomAD
rs1472204558	p.Pro673Leu	missense variant	-	NC_000013.11:g.41811270G>A	TOPMed
rs763332619	p.Asn674Thr	missense variant	-	NC_000013.11:g.41811267T>G	ExAC,gnomAD
NCI-TCGA novel	p.Glu675Ter	stop gained	-	NC_000013.11:g.41811265C>A	NCI-TCGA
NCI-TCGA novel	p.Glu675Ala	missense variant	-	NC_000013.11:g.41811264T>G	NCI-TCGA
rs1160934805	p.Asn676Ser	missense variant	-	NC_000013.11:g.41811261T>C	TOPMed
rs775734333	p.Leu677Pro	missense variant	-	NC_000013.11:g.41811258A>G	ExAC,gnomAD
COSM947497	p.Leu677Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41811259G>A	NCI-TCGA Cosmic
COSM416360	p.Leu677Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41811258A>C	NCI-TCGA Cosmic
rs770077142	p.Ser679Gly	missense variant	-	NC_000013.11:g.41811253T>C	ExAC,gnomAD
rs1284228499	p.Ala680Ser	missense variant	-	NC_000013.11:g.41811250C>A	gnomAD
rs1449560777	p.Ala684Ser	missense variant	-	NC_000013.11:g.41811238C>A	gnomAD
rs746085724	p.Arg688Lys	missense variant	-	NC_000013.11:g.41811225C>T	ExAC,TOPMed,gnomAD
rs36166712	p.Phe689Val	missense variant	-	NC_000013.11:g.41787542A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1247076595	p.Ala694Gly	missense variant	-	NC_000013.11:g.41787526G>C	gnomAD
rs1289099119	p.Arg695Ser	missense variant	-	NC_000013.11:g.41787522C>G	gnomAD
rs535298426	p.Ala697Thr	missense variant	-	NC_000013.11:g.41787518C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs756878260	p.Leu698Ser	missense variant	-	NC_000013.11:g.41787514A>G	ExAC,gnomAD
COSM3813832	p.Glu699Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41787510T>G	NCI-TCGA Cosmic
COSM469437	p.Asn701His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41787506T>G	NCI-TCGA Cosmic
COSM1366919	p.Asn701LysPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000013.11:g.41787504_41787505insT	NCI-TCGA Cosmic
rs751017430	p.Leu702Pro	missense variant	-	NC_000013.11:g.41787502A>G	ExAC,gnomAD
rs1280643245	p.Ala705Gly	missense variant	-	NC_000013.11:g.41787493G>C	TOPMed,gnomAD
rs1222286805	p.Thr706Ile	missense variant	-	NC_000013.11:g.41787490G>A	gnomAD
rs1283718415	p.Thr706Ala	missense variant	-	NC_000013.11:g.41787491T>C	TOPMed
rs777146194	p.Ile707Met	missense variant	-	NC_000013.11:g.41787486T>C	ExAC,gnomAD
COSM947496	p.Ile707Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41787487A>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu708Ter	stop gained	-	NC_000013.11:g.41787485C>A	NCI-TCGA
rs1445201019	p.Glu708Lys	missense variant	-	NC_000013.11:g.41787485C>T	TOPMed
rs141363411	p.Ile709Val	missense variant	-	NC_000013.11:g.41787482T>C	ESP,ExAC,TOPMed,gnomAD
rs753234990	p.Thr711Ile	missense variant	-	NC_000013.11:g.41787475G>A	ExAC,gnomAD
rs775794513	p.Asp712Ala	missense variant	-	NC_000013.11:g.41787472T>G	TOPMed
rs759939485	p.Asp713Glu	missense variant	-	NC_000013.11:g.41787468G>T	ExAC,TOPMed,gnomAD
rs1402637722	p.Asn714Ser	missense variant	-	NC_000013.11:g.41787466T>C	TOPMed,gnomAD
rs888665436	p.Pro717Ser	missense variant	-	NC_000013.11:g.41787458G>A	gnomAD
rs145957854	p.Leu719Pro	missense variant	-	NC_000013.11:g.41787451A>G	ESP,TOPMed,gnomAD
rs1192725417	p.Cys724SerPheSerPheTerPheGly	stop gained	-	NC_000013.11:g.41787436_41787437insCAAATCAAAAACTGAAGG	gnomAD
rs1241091227	p.Glu725Ala	missense variant	-	NC_000013.11:g.41783898T>G	gnomAD
NCI-TCGA novel	p.Val726Glu	missense variant	-	NC_000013.11:g.41783895A>T	NCI-TCGA
rs766638475	p.Ser728Phe	missense variant	-	NC_000013.11:g.41783889G>A	ExAC,TOPMed,gnomAD
rs1395492887	p.Arg732Thr	missense variant	-	NC_000013.11:g.41783877C>G	gnomAD
rs1380062563	p.Arg732Ser	missense variant	-	NC_000013.11:g.41783876C>A	gnomAD
rs928959610	p.Ile733Thr	missense variant	-	NC_000013.11:g.41783874A>G	TOPMed,gnomAD
rs750577785	p.Pro739Ala	missense variant	-	NC_000013.11:g.41783857G>C	ExAC,gnomAD
rs767808424	p.Pro739Leu	missense variant	-	NC_000013.11:g.41783856G>A	ExAC,gnomAD
rs774423322	p.Ile740Val	missense variant	-	NC_000013.11:g.41783854T>C	ExAC,gnomAD
rs765095052	p.Tyr741Cys	missense variant	-	NC_000013.11:g.41783850T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asn742Thr	missense variant	-	NC_000013.11:g.41783847T>G	NCI-TCGA
rs1163688745	p.Asn742Lys	missense variant	-	NC_000013.11:g.41783846A>C	TOPMed,gnomAD
rs759469990	p.Ala743Glu	missense variant	-	NC_000013.11:g.41783844G>T	ExAC,TOPMed,gnomAD
rs770611566	p.His744Gln	missense variant	-	NC_000013.11:g.41783840A>T	ExAC,gnomAD
rs548454195	p.His744Asn	missense variant	-	NC_000013.11:g.41783842G>T	1000Genomes,ExAC,gnomAD
rs142058892	p.Glu745Lys	missense variant	-	NC_000013.11:g.41783839C>T	ESP,TOPMed,gnomAD
rs141078922	p.Val749Leu	missense variant	-	NC_000013.11:g.41783827C>G	1000Genomes,ExAC,gnomAD
rs141078922	p.Val749Met	missense variant	-	NC_000013.11:g.41783827C>T	1000Genomes,ExAC,gnomAD
rs771873954	p.Val752Phe	missense variant	-	NC_000013.11:g.41783818C>A	ExAC,TOPMed,gnomAD
rs771873954	p.Val752Ile	missense variant	-	NC_000013.11:g.41783818C>T	ExAC,TOPMed,gnomAD
rs747594865	p.Leu753Pro	missense variant	-	NC_000013.11:g.41783814A>G	ExAC,gnomAD
COSM947494	p.Phe754Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41783810G>T	NCI-TCGA Cosmic
rs562820856	p.Tyr755Cys	missense variant	-	NC_000013.11:g.41783808T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1322344070	p.Asn757Lys	missense variant	-	NC_000013.11:g.41783801G>C	gnomAD
rs754592077	p.Ile758Phe	missense variant	-	NC_000013.11:g.41783800T>A	ExAC,TOPMed,gnomAD
rs754592077	p.Ile758Val	missense variant	-	NC_000013.11:g.41783800T>C	ExAC,TOPMed,gnomAD
rs749788532	p.Gln759Arg	missense variant	-	NC_000013.11:g.41783796T>C	ExAC,gnomAD
rs138051115	p.His760Pro	missense variant	-	NC_000013.11:g.41778055T>G	ESP,ExAC,TOPMed,gnomAD
rs1369403207	p.Val761Leu	missense variant	-	NC_000013.11:g.41778053C>A	gnomAD
rs1300362778	p.Val761Ala	missense variant	-	NC_000013.11:g.41778052A>G	gnomAD
rs1442014161	p.Val763Ala	missense variant	-	NC_000013.11:g.41778046A>G	TOPMed
rs201602938	p.Met764Val	missense variant	-	NC_000013.11:g.41778044T>C	1000Genomes,TOPMed
rs1369252043	p.Met764Lys	missense variant	-	NC_000013.11:g.41778043A>T	gnomAD
rs78259398	p.Met767Val	missense variant	-	NC_000013.11:g.41778035T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs781619795	p.Met767Thr	missense variant	-	NC_000013.11:g.41778034A>G	ExAC,gnomAD
NCI-TCGA novel	p.Asp770Tyr	missense variant	-	NC_000013.11:g.41778026C>A	NCI-TCGA
rs977107395	p.Leu772Pro	missense variant	-	NC_000013.11:g.41778019A>G	TOPMed,gnomAD
rs148830638	p.Leu773Ile	missense variant	-	NC_000013.11:g.41778017G>T	ESP,ExAC,TOPMed,gnomAD
rs148830638	p.Leu773Phe	missense variant	-	NC_000013.11:g.41778017G>A	ESP,ExAC,TOPMed,gnomAD
rs528075894	p.Val780Ala	missense variant	-	NC_000013.11:g.41777995A>G	1000Genomes,ExAC,gnomAD
rs961656869	p.Val785Ile	missense variant	-	NC_000013.11:g.41761201C>T	gnomAD
NCI-TCGA novel	p.Gly786Ter	stop gained	-	NC_000013.11:g.41761198C>A	NCI-TCGA
rs761648669	p.Gly786Glu	missense variant	-	NC_000013.11:g.41761197C>T	ExAC,gnomAD
rs1397123690	p.Gly786Arg	missense variant	-	NC_000013.11:g.41761198C>G	gnomAD
rs751411630	p.Lys787Arg	missense variant	-	NC_000013.11:g.41761194T>C	ExAC,gnomAD
COSM5078845	p.Asn788ThrPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000013.11:g.41761191T>-	NCI-TCGA Cosmic
rs763769133	p.Lys789Asn	missense variant	-	NC_000013.11:g.41761187C>G	ExAC,TOPMed,gnomAD
COSM1322888	p.Lys789Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41761187C>A	NCI-TCGA Cosmic
rs762658927	p.Ile790Phe	missense variant	-	NC_000013.11:g.41761186T>A	ExAC,TOPMed,gnomAD
rs769329444	p.Ile790Thr	missense variant	-	NC_000013.11:g.41761185A>G	ExAC,gnomAD
rs769329444	p.Ile790Asn	missense variant	-	NC_000013.11:g.41761185A>T	ExAC,gnomAD
rs769329444	p.Ile790Ser	missense variant	-	NC_000013.11:g.41761185A>C	ExAC,gnomAD
rs1367972497	p.Val791Ile	missense variant	-	NC_000013.11:g.41761183C>T	gnomAD
rs1188099618	p.Asp792Gly	missense variant	-	NC_000013.11:g.41761179T>C	TOPMed,gnomAD
rs1444086868	p.Arg793Gly	missense variant	-	NC_000013.11:g.41761177T>C	gnomAD
rs145470651	p.Phe794Leu	missense variant	-	NC_000013.11:g.41761172G>C	ESP,ExAC,TOPMed,gnomAD
rs145470651	p.Phe794Leu	missense variant	-	NC_000013.11:g.41761172G>T	ESP,ExAC,TOPMed,gnomAD
rs771452922	p.Leu797Pro	missense variant	-	NC_000013.11:g.41761164A>G	ExAC,gnomAD
COSM947493	p.Leu798Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41761161A>G	NCI-TCGA Cosmic
rs1005948360	p.Asn799Tyr	missense variant	-	NC_000013.11:g.41761159T>A	gnomAD
rs747317410	p.Asn799Ser	missense variant	-	NC_000013.11:g.41761158T>C	ExAC,gnomAD
rs371560257	p.Pro801Ser	missense variant	-	NC_000013.11:g.41761153G>A	ESP,ExAC,TOPMed,gnomAD
rs748380246	p.Arg802Gln	missense variant	-	NC_000013.11:g.41761149C>T	ExAC,TOPMed,gnomAD
rs368033977	p.Arg802Ter	stop gained	-	NC_000013.11:g.41761150G>A	ESP,ExAC,TOPMed,gnomAD
rs1246099147	p.Glu803Ter	stop gained	-	NC_000013.11:g.41761147C>A	gnomAD
COSM3793292	p.Glu803Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41761147C>G	NCI-TCGA Cosmic
rs150051966	p.Ile805Val	missense variant	-	NC_000013.11:g.41761141T>C	ESP,ExAC,TOPMed,gnomAD
rs755043597	p.Gln806His	missense variant	-	NC_000013.11:g.41761136C>A	ExAC,gnomAD
rs753986493	p.Leu807Val	missense variant	-	NC_000013.11:g.41761135G>C	ExAC,gnomAD
rs781215744	p.His808Tyr	missense variant	-	NC_000013.11:g.41761132G>A	ExAC,gnomAD
rs1300203790	p.Arg809Gly	missense variant	-	NC_000013.11:g.41761129T>C	TOPMed,gnomAD
rs1167780522	p.Asp810Asn	missense variant	-	NC_000013.11:g.41732154C>T	TOPMed
rs1456025958	p.Thr811Ile	missense variant	-	NC_000013.11:g.41732150G>A	TOPMed,gnomAD
rs1174640135	p.Thr815Ser	missense variant	-	NC_000013.11:g.41732138G>C	TOPMed
NCI-TCGA novel	p.Leu816Phe	missense variant	-	NC_000013.11:g.41732136G>A	NCI-TCGA
NCI-TCGA novel	p.Leu816Ile	missense variant	-	NC_000013.11:g.41732136G>T	NCI-TCGA
rs1391187614	p.Leu816Val	missense variant	-	NC_000013.11:g.41732136G>C	gnomAD
rs746924515	p.Thr817Arg	missense variant	-	NC_000013.11:g.41732132G>C	ExAC,TOPMed,gnomAD
rs746924515	p.Thr817Met	missense variant	-	NC_000013.11:g.41732132G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln819His	missense variant	-	NC_000013.11:g.41732125C>G	NCI-TCGA
NCI-TCGA novel	p.Gln819ThrSerLysLeuPro	insertion	-	NC_000013.11:g.41732124_41732125insTGGTAATTTTGAGGT	NCI-TCGA
rs1275655663	p.Pro820Ala	missense variant	-	NC_000013.11:g.41732124G>C	gnomAD
rs758176351	p.Ser821Leu	missense variant	-	NC_000013.11:g.41732120G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val822Phe	missense variant	-	NC_000013.11:g.41732118C>A	NCI-TCGA
rs764886833	p.Val822Ala	missense variant	-	NC_000013.11:g.41732117A>G	ExAC,TOPMed,gnomAD
rs764886833	p.Val822Asp	missense variant	-	NC_000013.11:g.41732117A>T	ExAC,TOPMed,gnomAD
rs1447368200	p.Asp824Asn	missense variant	-	NC_000013.11:g.41732112C>T	gnomAD
rs753556286	p.Gly825Arg	missense variant	-	NC_000013.11:g.41732109C>T	ExAC,TOPMed,gnomAD
rs753556286	p.Gly825Arg	missense variant	-	NC_000013.11:g.41732109C>T	NCI-TCGA,NCI-TCGA Cosmic
rs1173913216	p.Leu826Pro	missense variant	-	NC_000013.11:g.41732105A>G	gnomAD
rs778973721	p.Leu826Phe	missense variant	-	NC_000013.11:g.41732106G>A	ExAC,TOPMed,gnomAD
rs1173913216	p.Leu826Arg	missense variant	-	NC_000013.11:g.41732105A>C	gnomAD
rs570250165	p.Ile827Thr	missense variant	-	NC_000013.11:g.41732102A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1483232216	p.Tyr829Phe	missense variant	-	NC_000013.11:g.41732096T>A	TOPMed,gnomAD
rs767931779	p.Asp831Asn	missense variant	-	NC_000013.11:g.41732091C>T	ExAC,gnomAD
rs767931779	p.Asp831Asn	missense variant	-	NC_000013.11:g.41732091C>T	NCI-TCGA,NCI-TCGA Cosmic
rs774579164	p.Ser832Leu	missense variant	-	NC_000013.11:g.41732087G>A	ExAC,TOPMed,gnomAD
rs762176426	p.Ser832Pro	missense variant	-	NC_000013.11:g.41732088A>G	ExAC,gnomAD
rs769129079	p.Pro833His	missense variant	-	NC_000013.11:g.41732084G>T	ExAC
rs767996904	p.Val835Phe	missense variant	-	NC_000013.11:g.41729677C>A	ExAC,gnomAD
rs1472769105	p.del837TerValUnk	stop gained	-	NC_000013.11:g.41729671_41729672insCTACTTA	gnomAD
rs1452081981	p.Val838Ala	missense variant	-	NC_000013.11:g.41729667A>G	TOPMed
rs752164725	p.His842Arg	missense variant	-	NC_000013.11:g.41729655T>C	ExAC,gnomAD
NCI-TCGA novel	p.Val845Glu	missense variant	-	NC_000013.11:g.41729646A>T	NCI-TCGA
rs763454785	p.Val845Ala	missense variant	-	NC_000013.11:g.41729646A>G	ExAC,gnomAD
rs764528146	p.Val845Ile	missense variant	-	NC_000013.11:g.41729647C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val846AsnPheSerTerUnk	frameshift	-	NC_000013.11:g.41729644_41729645insCAATTATT	NCI-TCGA
rs140070269	p.Val846Ala	missense variant	-	NC_000013.11:g.41729643A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs146100016	p.Asp847Gly	missense variant	-	NC_000013.11:g.41729640T>C	ESP,ExAC,TOPMed,gnomAD
rs1227635596	p.Lys851Glu	missense variant	-	NC_000013.11:g.41729629T>C	gnomAD
COSM4047651	p.Ala852Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41729625G>T	NCI-TCGA Cosmic
rs749328607	p.Ala852Thr	missense variant	-	NC_000013.11:g.41729626C>T	gnomAD
COSM947490	p.Pro853Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41729623G>T	NCI-TCGA Cosmic
rs1267421518	p.Asn855Asp	missense variant	-	NC_000013.11:g.41729617T>C	TOPMed
rs1359736821	p.Val856Ala	missense variant	-	NC_000013.11:g.41729613A>G	gnomAD
rs1223466228	p.Thr857Pro	missense variant	-	NC_000013.11:g.41729611T>G	TOPMed
rs144806444	p.Thr857Met	missense variant	-	NC_000013.11:g.41729610G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs748023848	p.Cys858Tyr	missense variant	-	NC_000013.11:g.41729607C>T	ExAC,TOPMed,gnomAD
rs778948121	p.Ile859Thr	missense variant	-	NC_000013.11:g.41729604A>G	ExAC,gnomAD
rs370007433	p.Leu860Phe	missense variant	-	NC_000013.11:g.41729600T>A	ESP,ExAC,gnomAD
rs142882625	p.Thr862Ile	missense variant	-	NC_000013.11:g.41729595G>A	ESP,ExAC,TOPMed,gnomAD
rs9566833	p.Leu863Val	missense variant	-	NC_000013.11:g.41729593G>C	gnomAD
COSM1366917	p.Asn866LysPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000013.11:g.41729582_41729583insT	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu868Ter	stop gained	-	NC_000013.11:g.41729578C>A	NCI-TCGA
rs1407880328	p.Glu868Ala	missense variant	-	NC_000013.11:g.41729577T>G	TOPMed
rs750152710	p.Met869Ile	missense variant	-	NC_000013.11:g.41729573C>A	ExAC,gnomAD
rs770279082	p.Met869Val	missense variant	-	NC_000013.11:g.41729575T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala872Glu	missense variant	-	NC_000013.11:g.41729565G>T	NCI-TCGA
rs780551578	p.Ala872Thr	missense variant	-	NC_000013.11:g.41729566C>T	ExAC,gnomAD
rs1322464768	p.Asp873Gly	missense variant	-	NC_000013.11:g.41729562T>C	gnomAD
rs1167312214	p.Gly874Ala	missense variant	-	NC_000013.11:g.41729559C>G	TOPMed
COSM947489	p.Gly874Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41729559C>T	NCI-TCGA Cosmic
rs367830880	p.Arg876His	missense variant	-	NC_000013.11:g.41729553C>T	NCI-TCGA,NCI-TCGA Cosmic
rs756836775	p.Arg876Cys	missense variant	-	NC_000013.11:g.41729554G>A	ExAC,TOPMed,gnomAD
rs367830880	p.Arg876His	missense variant	-	NC_000013.11:g.41729553C>T	ESP,ExAC,TOPMed,gnomAD
rs756836775	p.Arg876Cys	missense variant	-	NC_000013.11:g.41729554G>A	NCI-TCGA,NCI-TCGA Cosmic
rs367830880	p.Arg876Leu	missense variant	-	NC_000013.11:g.41729553C>A	ESP,ExAC,TOPMed,gnomAD
rs148498938	p.Ile877Val	missense variant	-	NC_000013.11:g.41729551T>C	ESP,ExAC,TOPMed,gnomAD
rs148498938	p.Ile877Leu	missense variant	-	NC_000013.11:g.41729551T>G	ESP,ExAC,TOPMed,gnomAD
rs753128797	p.Ala879Val	missense variant	-	NC_000013.11:g.41729544G>A	ExAC,gnomAD
rs371338398	p.Ala882Gly	missense variant	-	NC_000013.11:g.41727307G>C	TOPMed,gnomAD
rs371338398	p.Ala882Val	missense variant	-	NC_000013.11:g.41727307G>A	TOPMed,gnomAD
rs1351002026	p.Asn883Ile	missense variant	-	NC_000013.11:g.41727304T>A	TOPMed
rs745484975	p.Arg887Lys	missense variant	-	NC_000013.11:g.41727292C>T	ExAC,TOPMed,gnomAD
rs745484975	p.Arg887Ile	missense variant	-	NC_000013.11:g.41727292C>A	ExAC,TOPMed,gnomAD
rs1463850077	p.Pro895Ala	missense variant	-	NC_000013.11:g.41727269G>C	gnomAD
rs1376285975	p.Asp896Tyr	missense variant	-	NC_000013.11:g.41727266C>A	gnomAD
rs41288291	p.Arg898Lys	missense variant	-	NC_000013.11:g.41727259C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1175554114	p.Arg898Gly	missense variant	-	NC_000013.11:g.41727260T>C	gnomAD
rs1396924217	p.Met899Val	missense variant	-	NC_000013.11:g.41727257T>C	gnomAD
rs1012393458	p.Ile900Asn	missense variant	-	NC_000013.11:g.41727253A>T	TOPMed
rs756686047	p.Val901Ile	missense variant	-	NC_000013.11:g.41727251C>T	ExAC,gnomAD
rs912459800	p.Leu902Val	missense variant	-	NC_000013.11:g.41727248G>C	gnomAD
rs1481852031	p.Ala903Glu	missense variant	-	NC_000013.11:g.41727244G>T	TOPMed
rs1178086692	p.Arg905Gly	missense variant	-	NC_000013.11:g.41727239T>C	TOPMed
rs1228514589	p.Gly907Arg	missense variant	-	NC_000013.11:g.41727233C>T	gnomAD
COSM947488	p.Gly907Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41727232C>A	NCI-TCGA Cosmic
rs1234525772	p.Phe908Tyr	missense variant	-	NC_000013.11:g.41727229A>T	gnomAD
COSM1366916	p.Gly912Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41727217C>T	NCI-TCGA Cosmic
rs778370317	p.Asn913Ser	missense variant	-	NC_000013.11:g.41727214T>C	ExAC,gnomAD
rs1351926529	p.Asp914Val	missense variant	-	NC_000013.11:g.41727211T>A	gnomAD
rs1238774354	p.Asp914Tyr	missense variant	-	NC_000013.11:g.41727212C>A	gnomAD
rs372018922	p.Gly917Asp	missense variant	-	NC_000013.11:g.41727202C>T	ESP,ExAC,gnomAD
rs149311309	p.Gly917Ser	missense variant	-	NC_000013.11:g.41727203C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs551677250	p.Thr918Ser	missense variant	-	NC_000013.11:g.41727199G>C	TOPMed
rs1400448572	p.Leu919Val	missense variant	-	NC_000013.11:g.41727197A>C	gnomAD
rs755421649	p.Gly920Ser	missense variant	-	NC_000013.11:g.41727194C>T	ExAC,TOPMed,gnomAD
rs777418952	p.Ile922Val	missense variant	-	NC_000013.11:g.41721570T>C	ExAC,gnomAD
rs201920223	p.Ser924Arg	missense variant	-	NC_000013.11:g.41721562G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs199589463	p.Cys925Gly	missense variant	-	NC_000013.11:g.41721561A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs528090503	p.His926Pro	missense variant	-	NC_000013.11:g.41721557T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs528090503	p.His926Arg	missense variant	-	NC_000013.11:g.41721557T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs766444003	p.Ala927Glu	missense variant	-	NC_000013.11:g.41721554G>T	ExAC,TOPMed,gnomAD
rs1355104296	p.Val928Phe	missense variant	-	NC_000013.11:g.41721552C>A	TOPMed,gnomAD
rs138978193	p.Val928Ala	missense variant	-	NC_000013.11:g.41721551A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1276738200	p.Asn930Ser	missense variant	-	NC_000013.11:g.41721545T>C	gnomAD
rs548685948	p.Asn930Tyr	missense variant	-	NC_000013.11:g.41721546T>A	1000Genomes,ExAC,gnomAD
rs1296732345	p.Pro931Ala	missense variant	-	NC_000013.11:g.41721543G>C	TOPMed
rs765244993	p.Lys932Arg	missense variant	-	NC_000013.11:g.41721539T>C	ExAC,gnomAD
rs1320601327	p.Pro933Leu	missense variant	-	NC_000013.11:g.41721536G>A	TOPMed,gnomAD
rs1390115764	p.His934Pro	missense variant	-	NC_000013.11:g.41721533T>G	gnomAD
rs759197672	p.His934Gln	missense variant	-	NC_000013.11:g.41721532G>C	ExAC
rs776493606	p.Ser935Leu	missense variant	-	NC_000013.11:g.41721530G>A	ExAC,TOPMed,gnomAD
rs776493606	p.Ser935Leu	missense variant	-	NC_000013.11:g.41721530G>A	NCI-TCGA
rs1475646384	p.Leu937Pro	missense variant	-	NC_000013.11:g.41721524A>G	gnomAD
rs771677754	p.Leu937Ile	missense variant	-	NC_000013.11:g.41721525G>T	ExAC,gnomAD
rs779229848	p.Glu938Lys	missense variant	-	NC_000013.11:g.41721522C>T	ExAC,TOPMed,gnomAD
rs1253094251	p.Met939Ile	missense variant	-	NC_000013.11:g.41721517C>A	gnomAD
rs1450467793	p.Met939Leu	missense variant	-	NC_000013.11:g.41721519T>A	TOPMed,gnomAD
rs1450467793	p.Met939Val	missense variant	-	NC_000013.11:g.41721519T>C	TOPMed,gnomAD
rs749826841	p.Arg941Gly	missense variant	-	NC_000013.11:g.41721513T>C	ExAC,gnomAD
rs1256772690	p.Gln942Glu	missense variant	-	NC_000013.11:g.41721510G>C	gnomAD
rs1214341011	p.Pro945Ser	missense variant	-	NC_000013.11:g.41721501G>A	gnomAD
rs1340585379	p.Asn946Ile	missense variant	-	NC_000013.11:g.41721497T>A	gnomAD
rs780449711	p.Val947Met	missense variant	-	NC_000013.11:g.41721495C>T	ExAC,gnomAD
rs1434600160	p.Pro948Ser	missense variant	-	NC_000013.11:g.41721492G>A	gnomAD
NCI-TCGA novel	p.Glu949Ter	stop gained	-	NC_000013.11:g.41721489C>A	NCI-TCGA
rs756480573	p.Glu949Asp	missense variant	-	NC_000013.11:g.41721487C>G	ExAC,gnomAD
rs750610805	p.Pro950Ala	missense variant	-	NC_000013.11:g.41721486G>C	ExAC,gnomAD
COSM6139192	p.Ile951Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41721483T>C	NCI-TCGA Cosmic
rs781420991	p.Leu955Phe	missense variant	-	NC_000013.11:g.41721471G>A	ExAC,TOPMed,gnomAD
rs781420991	p.Leu955Val	missense variant	-	NC_000013.11:g.41721471G>C	ExAC,TOPMed,gnomAD
rs1410315224	p.Ala957Thr	missense variant	-	NC_000013.11:g.41721465C>T	gnomAD
rs751655787	p.Ala958Gly	missense variant	-	NC_000013.11:g.41721461G>C	ExAC,gnomAD
rs765021641	p.Phe959Leu	missense variant	-	NC_000013.11:g.41721459A>G	ExAC
rs1477503434	p.Glu961Asp	missense variant	-	NC_000013.11:g.41721451C>G	TOPMed,gnomAD
rs1170383090	p.Glu961Gly	missense variant	-	NC_000013.11:g.41721452T>C	TOPMed,gnomAD
rs759518109	p.Leu965Trp	missense variant	-	NC_000013.11:g.41721440A>C	ExAC,gnomAD
NCI-TCGA novel	p.Gln968Arg	missense variant	-	NC_000013.11:g.41721431T>C	NCI-TCGA
rs1022328309	p.Gly969Arg	missense variant	-	NC_000013.11:g.41721429C>T	TOPMed,gnomAD
rs1438696041	p.Ile970Asn	missense variant	-	NC_000013.11:g.41721425A>T	gnomAD
rs548286762	p.Ile971Val	missense variant	-	NC_000013.11:g.41721423T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs548286762	p.Ile971Leu	missense variant	-	NC_000013.11:g.41721423T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs771863322	p.Tyr973His	missense variant	-	NC_000013.11:g.41721417A>G	ExAC,gnomAD
rs267603826	p.Pro974Arg	missense variant	-	NC_000013.11:g.41721413G>C	ExAC,gnomAD
rs267603826	p.Pro974Leu	missense variant	-	NC_000013.11:g.41721413G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ser976Phe	missense variant	-	NC_000013.11:g.41721407G>A	NCI-TCGA
COSM4047648	p.Ser976Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41721408A>G	NCI-TCGA Cosmic
rs577959675	p.Thr977Ala	missense variant	-	NC_000013.11:g.41721405T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1278812038	p.Arg978Ile	missense variant	-	NC_000013.11:g.41721401C>A	gnomAD
rs564812230	p.Arg978Gly	missense variant	-	NC_000013.11:g.41721402T>C	1000Genomes,ExAC,gnomAD
rs747052344	p.Val980Ile	missense variant	-	NC_000013.11:g.41721396C>T	ExAC,gnomAD
rs746251108	p.Val980Ala	missense variant	-	NC_000013.11:g.41721395A>G	ExAC,gnomAD
rs1221332507	p.Val981Phe	missense variant	-	NC_000013.11:g.41721393C>A	TOPMed
rs781336713	p.Asn982His	missense variant	-	NC_000013.11:g.41721390T>G	ExAC,gnomAD
rs142994422	p.Asn982Ser	missense variant	-	NC_000013.11:g.41721389T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs781336713	p.Asn982Asp	missense variant	-	NC_000013.11:g.41721390T>C	ExAC,gnomAD
rs751850062	p.Asn982Lys	missense variant	-	NC_000013.11:g.41721388G>C	ExAC,gnomAD
rs777899479	p.Ile983Leu	missense variant	-	NC_000013.11:g.41721387T>G	ExAC,gnomAD
rs758456558	p.Val984Gly	missense variant	-	NC_000013.11:g.41721383A>C	ExAC,gnomAD
rs1177088012	p.Lys985Ile	missense variant	-	NC_000013.11:g.41721380T>A	gnomAD
rs964251019	p.His986Gln	missense variant	-	NC_000013.11:g.41721376A>C	TOPMed
rs137987043	p.His986Arg	missense variant	-	NC_000013.11:g.41721377T>C	ESP,TOPMed,gnomAD
rs753777920	p.Leu987Ter	stop gained	-	NC_000013.11:g.41721374A>C	ExAC,TOPMed,gnomAD
rs1208431571	p.Gln988Arg	missense variant	-	NC_000013.11:g.41721371T>C	gnomAD
rs1235139762	p.Gln988Ter	stop gained	-	NC_000013.11:g.41721372G>A	TOPMed,gnomAD
rs531273557	p.Gln988His	missense variant	-	NC_000013.11:g.41721370C>G	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe990Cys	missense variant	-	NC_000013.11:g.41719738A>C	NCI-TCGA
COSM3987406	p.Phe990Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41719739A>G	NCI-TCGA Cosmic
rs751179987	p.Pro991Leu	missense variant	-	NC_000013.11:g.41719735G>A	ExAC,TOPMed,gnomAD
rs762464761	p.Glu993Gly	missense variant	-	NC_000013.11:g.41719729T>C	ExAC,gnomAD
NCI-TCGA novel	p.Arg1000ProPheSerTerUnk	stop gained	-	NC_000013.11:g.41719708_41719709insAGAAAATGAGGATATCTAGTAAG	NCI-TCGA
rs1000451330	p.Arg1000Ter	stop gained	-	NC_000013.11:g.41719709G>A	NCI-TCGA Cosmic
rs202176681	p.Arg1000Leu	missense variant	-	NC_000013.11:g.41719708C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1000451330	p.Arg1000Ter	stop gained	-	NC_000013.11:g.41719709G>A	TOPMed
rs202176681	p.Arg1000Gln	missense variant	-	NC_000013.11:g.41719708C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1000451330	p.Arg1000Gly	missense variant	-	NC_000013.11:g.41719709G>C	TOPMed
rs202176681	p.Arg1000Leu	missense variant	-	NC_000013.11:g.41719708C>A	NCI-TCGA
NCI-TCGA novel	p.Val1002Met	missense variant	-	NC_000013.11:g.41719703C>T	NCI-TCGA
rs1418974370	p.Val1002Ala	missense variant	-	NC_000013.11:g.41719702A>G	gnomAD
NCI-TCGA novel	p.Phe1003Leu	missense variant	-	NC_000013.11:g.41719700A>G	NCI-TCGA
rs1252294600	p.Asp1004Val	missense variant	-	NC_000013.11:g.41719696T>A	TOPMed,gnomAD
rs760026353	p.Asp1006Val	missense variant	-	NC_000013.11:g.41719690T>A	ExAC,gnomAD
rs1245700003	p.Tyr1008Cys	missense variant	-	NC_000013.11:g.41719684T>C	TOPMed,gnomAD
rs1405757679	p.Met1012Ile	missense variant	-	NC_000013.11:g.41719671C>T	TOPMed
rs568741767	p.Glu1014Lys	missense variant	-	NC_000013.11:g.41719667C>T	1000Genomes,ExAC,gnomAD
rs747365711	p.Ile1015Leu	missense variant	-	NC_000013.11:g.41719664T>G	ExAC,gnomAD
rs747365711	p.Ile1015Val	missense variant	-	NC_000013.11:g.41719664T>C	ExAC,gnomAD
rs772199651	p.Thr1019Pro	missense variant	-	NC_000013.11:g.41719652T>G	ExAC,gnomAD
rs779122091	p.His1021Asp	missense variant	-	NC_000013.11:g.41719646G>C	ExAC,gnomAD
rs755157457	p.His1021Leu	missense variant	-	NC_000013.11:g.41719645T>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys1022Thr	missense variant	-	NC_000013.11:g.41719642T>G	NCI-TCGA
rs757024631	p.Tyr1023Ter	stop gained	-	NC_000013.11:g.41719638G>T	ExAC,TOPMed,gnomAD
rs757024631	p.Tyr1023Ter	stop gained	-	NC_000013.11:g.41719638G>C	ExAC,TOPMed,gnomAD
rs763737722	p.Gly1024Glu	missense variant	-	NC_000013.11:g.41719636C>T	ExAC,gnomAD
rs371770462	p.Gly1024Arg	missense variant	-	NC_000013.11:g.41719637C>T	ESP,ExAC,TOPMed,gnomAD
rs1349861288	p.Ile1025Met	missense variant	-	NC_000013.11:g.41719632T>C	TOPMed
rs368043801	p.Pro1026Ser	missense variant	-	NC_000013.11:g.41719631G>A	ESP,ExAC,TOPMed,gnomAD
rs148181998	p.Gly1028Arg	missense variant	-	NC_000013.11:g.41719625C>T	NCI-TCGA,NCI-TCGA Cosmic
rs148181998	p.Gly1028Arg	missense variant	-	NC_000013.11:g.41719625C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr1032Ile	missense variant	-	NC_000013.11:g.41719612G>A	NCI-TCGA
rs761044571	p.Ser1033Gly	missense variant	-	NC_000013.11:g.41719610T>C	ExAC,TOPMed,gnomAD
rs773443355	p.Gln1035His	missense variant	-	NC_000013.11:g.41719602C>G	ExAC,TOPMed,gnomAD
rs772543333	p.Lys1038Arg	missense variant	-	NC_000013.11:g.41719594T>C	ExAC,gnomAD
COSM3968614	p.Lys1038Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41719595T>C	NCI-TCGA Cosmic
rs1206133448	p.Glu1039Lys	missense variant	-	NC_000013.11:g.41719592C>T	gnomAD
rs1426864483	p.Thr1041Ile	missense variant	-	NC_000013.11:g.41703406G>A	TOPMed
COSM6139193	p.Leu1042Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41703404G>T	NCI-TCGA Cosmic
rs767739075	p.Glu1044Gly	missense variant	-	NC_000013.11:g.41703397T>C	ExAC,TOPMed,gnomAD
rs762268695	p.Gln1045Ter	stop gained	-	NC_000013.11:g.41703395G>A	ExAC
rs377420908	p.Thr1046Met	missense variant	-	NC_000013.11:g.41703391G>A	NCI-TCGA,NCI-TCGA Cosmic
rs377420908	p.Thr1046Met	missense variant	-	NC_000013.11:g.41703391G>A	ESP,ExAC,TOPMed,gnomAD
COSM4047645	p.Phe1047Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41703389A>G	NCI-TCGA Cosmic
rs1174010412	p.Met1048Ile	missense variant	-	NC_000013.11:g.41703384C>T	TOPMed
rs1390503342	p.Tyr1050Phe	missense variant	-	NC_000013.11:g.41703379T>A	TOPMed
rs1394273755	p.Ile1053Val	missense variant	-	NC_000013.11:g.41703371T>C	gnomAD
rs763058392	p.Gly1054Asp	missense variant	-	NC_000013.11:g.41703367C>T	ExAC,TOPMed,gnomAD
rs1451219519	p.Ala1056Gly	missense variant	-	NC_000013.11:g.41703361G>C	gnomAD
rs1474071136	p.Arg1057Gly	missense variant	-	NC_000013.11:g.41703359T>C	gnomAD
rs1382302352	p.Arg1057Ser	missense variant	-	NC_000013.11:g.41703357T>G	TOPMed
rs775710157	p.Ser1058Asn	missense variant	-	NC_000013.11:g.41703355C>T	ExAC,gnomAD
COSM4841290	p.Ser1058Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41703356T>G	NCI-TCGA Cosmic
rs369712023	p.Gly1059Glu	missense variant	-	NC_000013.11:g.41703352C>T	ESP,TOPMed
NCI-TCGA novel	p.Gly1059Val	missense variant	-	NC_000013.11:g.41703352C>A	NCI-TCGA
rs1388300878	p.Met1060Leu	missense variant	-	NC_000013.11:g.41703350T>A	TOPMed,gnomAD
rs377037712	p.Met1060Ile	missense variant	-	NC_000013.11:g.41703348C>T	ESP
rs372140357	p.Gln1061Pro	missense variant	-	NC_000013.11:g.41703346T>G	ESP,ExAC,TOPMed,gnomAD
rs1486432994	p.Lys1062Asn	missense variant	-	NC_000013.11:g.41703342T>G	gnomAD
rs961006033	p.Leu1063Phe	missense variant	-	NC_000013.11:g.41703341G>A	TOPMed
COSM3813831	p.Leu1064Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41703338A>C	NCI-TCGA Cosmic
rs746899659	p.Cys1065Ser	missense variant	-	NC_000013.11:g.41703334C>G	ExAC,gnomAD
COSM3468937	p.Glu1068Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41703325T>C	NCI-TCGA Cosmic
rs201540448	p.Thr1069Ala	missense variant	-	NC_000013.11:g.41703323T>C	ESP,ExAC,TOPMed,gnomAD
rs1257748217	p.Thr1069Ser	missense variant	-	NC_000013.11:g.41703322G>C	gnomAD
rs1261756238	p.His1070Arg	missense variant	-	NC_000013.11:g.41703319T>C	TOPMed,gnomAD
rs1261756238	p.His1070Leu	missense variant	-	NC_000013.11:g.41703319T>A	TOPMed,gnomAD
rs1333079923	p.His1071Arg	missense variant	-	NC_000013.11:g.41703316T>C	TOPMed,gnomAD
rs1211721918	p.Ile1072Leu	missense variant	-	NC_000013.11:g.41703314T>A	TOPMed
rs747963865	p.Asp1073Gly	missense variant	-	NC_000013.11:g.41703310T>C	ExAC,gnomAD
rs1357582768	p.Ile1074Arg	missense variant	-	NC_000013.11:g.41703307A>C	gnomAD
rs1480082514	p.Lys1075Asn	missense variant	-	NC_000013.11:g.41703303C>A	TOPMed
rs1184420228	p.Gly1076Ser	missense variant	-	NC_000013.11:g.41701530C>T	TOPMed
rs890317415	p.Gly1076Asp	missense variant	-	NC_000013.11:g.41701529C>T	TOPMed,gnomAD
rs1271364396	p.Pro1077Arg	missense variant	-	NC_000013.11:g.41701526G>C	gnomAD
rs1232180399	p.AlaLeuIleAsnIle1078AlaLeuIleAsnAsnLeuTerIleUnk	stop gained	-	NC_000013.11:g.41701512_41701522dup	gnomAD
COSM947484	p.Ala1078Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41701524C>A	NCI-TCGA Cosmic
rs1439255284	p.Leu1079Phe	missense variant	-	NC_000013.11:g.41701521G>A	TOPMed
rs745396588	p.Ile1080Leu	missense variant	-	NC_000013.11:g.41701518T>A	ExAC,gnomAD
rs781484442	p.Asn1081His	missense variant	-	NC_000013.11:g.41701515T>G	ExAC,gnomAD
rs757833754	p.Ile1082Val	missense variant	-	NC_000013.11:g.41701512T>C	ExAC,gnomAD
rs371683248	p.Ile1082Met	missense variant	-	NC_000013.11:g.41701510T>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln1083His	missense variant	-	NC_000013.11:g.41701507C>A	NCI-TCGA
rs764532290	p.Gln1083Arg	missense variant	-	NC_000013.11:g.41701508T>C	ExAC,gnomAD
rs752822645	p.Glu1084Asp	missense variant	-	NC_000013.11:g.41701504C>A	ExAC,TOPMed,gnomAD
rs772529673	p.Tyr1085PheTerIleThrTyrAsnCysTyr	stop gained	-	NC_000013.11:g.41701503_41701504insGCAATTATATGTAATTTAGAA	ExAC
rs776780603	p.Ile1087Lys	missense variant	-	NC_000013.11:g.41701496A>T	ExAC,TOPMed,gnomAD
rs776780603	p.Ile1087Thr	missense variant	-	NC_000013.11:g.41701496A>G	ExAC,TOPMed,gnomAD
rs1410371662	p.Arg1089Ser	missense variant	-	NC_000013.11:g.41701489T>A	gnomAD
rs553184947	p.His1090Arg	missense variant	-	NC_000013.11:g.41701487T>C	1000Genomes,ExAC,gnomAD
rs368678305	p.Arg1093Ser	missense variant	-	NC_000013.11:g.41701477T>G	ESP,ExAC,TOPMed,gnomAD
rs1433484901	p.Ser1094Pro	missense variant	-	NC_000013.11:g.41701476A>G	TOPMed,gnomAD
rs774308810	p.Ser1094Cys	missense variant	-	NC_000013.11:g.41701475G>C	ExAC,TOPMed,gnomAD
rs1433484901	p.Ser1094Thr	missense variant	-	NC_000013.11:g.41701476A>T	TOPMed,gnomAD
rs774308810	p.Ser1094Tyr	missense variant	-	NC_000013.11:g.41701475G>T	ExAC,TOPMed,gnomAD
rs1444064042	p.Leu1095Pro	missense variant	-	NC_000013.11:g.41701472A>G	TOPMed
rs756047468	p.Asn1096Lys	missense variant	-	NC_000013.11:g.41701468G>C	ExAC,gnomAD
rs1181525281	p.Glu1099Lys	missense variant	-	NC_000013.11:g.41701461C>T	gnomAD
rs769491022	p.Glu1100Gly	missense variant	-	NC_000013.11:g.41701457T>C	ExAC,gnomAD
rs1382944301	p.Ala1102Val	missense variant	-	NC_000013.11:g.41701451G>A	TOPMed
rs745573452	p.Ser1103Leu	missense variant	-	NC_000013.11:g.41701448G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Trp1104Ter	stop gained	-	NC_000013.11:g.41701445C>T	NCI-TCGA
rs1247269210	p.Glu1110Ter	stop gained	-	NC_000013.11:g.41701428C>A	-
rs1247269210	p.Glu1110Ter	stop gained	-	NC_000013.11:g.41701428C>A	NCI-TCGA Cosmic
rs993501221	p.Ile1111Met	missense variant	-	NC_000013.11:g.41701423A>C	TOPMed
rs368430981	p.Ile1113Val	missense variant	-	NC_000013.11:g.41701419T>C	ESP,ExAC,TOPMed,gnomAD
rs1442656107	p.Ile1113Met	missense variant	-	NC_000013.11:g.41701417T>C	gnomAD
rs778456029	p.Ile1114Met	missense variant	-	NC_000013.11:g.41701414G>C	ExAC,TOPMed,gnomAD
rs1308386085	p.Cys1115Gly	missense variant	-	NC_000013.11:g.41701413A>C	NCI-TCGA Cosmic
rs1308386085	p.Cys1115Gly	missense variant	-	NC_000013.11:g.41701413A>C	gnomAD
rs374224916	p.Ile1117Thr	missense variant	-	NC_000013.11:g.41701406A>G	ESP,ExAC,gnomAD
rs1368165741	p.Asn1123Lys	missense variant	-	NC_000013.11:g.41699266A>T	TOPMed
NCI-TCGA novel	p.Thr1127Ala	missense variant	-	NC_000013.11:g.41699256T>C	NCI-TCGA
rs200921260	p.Tyr1129Cys	missense variant	-	NC_000013.11:g.41699249T>C	ESP,ExAC,TOPMed,gnomAD
rs1369718601	p.Thr1132Pro	missense variant	-	NC_000013.11:g.41699241T>G	TOPMed,gnomAD
rs780272704	p.Asn1134Tyr	missense variant	-	NC_000013.11:g.41699235T>A	ExAC,gnomAD
rs1360609569	p.Pro1135His	missense variant	-	NC_000013.11:g.41699231G>T	gnomAD
rs1212468778	p.Pro1135Ser	missense variant	-	NC_000013.11:g.41699232G>A	gnomAD
rs767649983	p.Ala1136Ser	missense variant	-	NC_000013.11:g.41699229C>A	ExAC,TOPMed,gnomAD
rs767649983	p.Ala1136Thr	missense variant	-	NC_000013.11:g.41699229C>T	ExAC,TOPMed,gnomAD
rs1324547700	p.Ser1137Tyr	missense variant	-	NC_000013.11:g.41699225G>T	gnomAD
NCI-TCGA novel	p.Tyr1139His	missense variant	-	NC_000013.11:g.41699220A>G	NCI-TCGA
rs762933120	p.Met1141Ile	missense variant	-	NC_000013.11:g.41699212C>A	ExAC,gnomAD
rs752624412	p.Asn1142Ser	missense variant	-	NC_000013.11:g.41699210T>C	ExAC,gnomAD
COSM4047644	p.Met1143Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41699207A>G	NCI-TCGA Cosmic
rs932852567	p.Gly1145Trp	missense variant	-	NC_000013.11:g.41699202C>A	TOPMed,gnomAD
rs1189282598	p.Gly1145Glu	missense variant	-	NC_000013.11:g.41699201C>T	gnomAD
rs759283527	p.Gly1148Val	missense variant	-	NC_000013.11:g.41699192C>A	ExAC,TOPMed,gnomAD
rs776374124	p.Phe1149Val	missense variant	-	NC_000013.11:g.41699190A>C	ExAC,TOPMed,gnomAD
rs76787766	p.Val1151Leu	missense variant	-	NC_000013.11:g.41699184C>G	ExAC,TOPMed,gnomAD
rs76787766	p.Val1151Met	missense variant	-	NC_000013.11:g.41699184C>T	ExAC,TOPMed,gnomAD
rs76787766	p.Val1151Leu	missense variant	-	NC_000013.11:g.41699184C>A	ExAC,TOPMed,gnomAD
rs769012795	p.Asp1152Val	missense variant	-	NC_000013.11:g.41699180T>A	ExAC
rs780179594	p.Asp1152Glu	missense variant	-	NC_000013.11:g.41699179G>C	ExAC,TOPMed
rs748668867	p.Asp1152His	missense variant	-	NC_000013.11:g.41699181C>G	ExAC,gnomAD
rs769012795	p.Asp1152Gly	missense variant	-	NC_000013.11:g.41699180T>C	ExAC
COSM947482	p.Asp1152Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41699181C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Phe1153Leu	missense variant	-	NC_000013.11:g.41699176A>C	NCI-TCGA
rs756323521	p.Phe1153Leu	missense variant	-	NC_000013.11:g.41699178A>G	ExAC
rs746146791	p.Asp1155Gly	missense variant	-	NC_000013.11:g.41699171T>C	ExAC,TOPMed,gnomAD
rs781225564	p.Ile1156Phe	missense variant	-	NC_000013.11:g.41699169T>A	ExAC,gnomAD
rs961107950	p.Phe1157Ile	missense variant	-	NC_000013.11:g.41699166A>T	TOPMed
rs1301802937	p.Pro1158Ser	missense variant	-	NC_000013.11:g.41699163G>A	gnomAD
rs757322905	p.Thr1160Pro	missense variant	-	NC_000013.11:g.41699157T>G	ExAC,gnomAD
NCI-TCGA novel	p.Ala1161Thr	missense variant	-	NC_000013.11:g.41699154C>T	NCI-TCGA
rs1336908295	p.Asn1162Ser	missense variant	-	NC_000013.11:g.41699150T>C	TOPMed
rs983790533	p.Gly1163Asp	missense variant	-	NC_000013.11:g.41699147C>T	TOPMed
rs754745859	p.Val1164Ile	missense variant	-	NC_000013.11:g.41699145C>T	ExAC,TOPMed,gnomAD
rs766348152	p.Trp1165Ter	stop gained	-	NC_000013.11:g.41699140C>T	ExAC,gnomAD
rs766348152	p.Trp1165Cys	missense variant	-	NC_000013.11:g.41699140C>A	ExAC,gnomAD
NCI-TCGA novel	p.His1166Tyr	missense variant	-	NC_000013.11:g.41699139G>A	NCI-TCGA
rs760393141	p.His1166Gln	missense variant	-	NC_000013.11:g.41699137G>C	ExAC,gnomAD
rs767010894	p.Pro1167Thr	missense variant	-	NC_000013.11:g.41699136G>T	ExAC,TOPMed,gnomAD
rs767010894	p.Pro1167Ser	missense variant	-	NC_000013.11:g.41699136G>A	ExAC,TOPMed,gnomAD
rs767010894	p.Pro1167Ala	missense variant	-	NC_000013.11:g.41699136G>C	ExAC,TOPMed,gnomAD
rs1192890831	p.Phe1168Ser	missense variant	-	NC_000013.11:g.41699132A>G	gnomAD
rs1200645968	p.Phe1168Ile	missense variant	-	NC_000013.11:g.41699133A>T	TOPMed
rs373695860	p.Thr1170Pro	missense variant	-	NC_000013.11:g.41699127T>G	ESP,ExAC,gnomAD
rs1175251918	p.Ala1172Thr	missense variant	-	NC_000013.11:g.41699121C>T	gnomAD
rs199643337	p.Pro1173Leu	missense variant	-	NC_000013.11:g.41699117G>A	ESP,ExAC,TOPMed,gnomAD
rs775819103	p.Gly1175Glu	missense variant	-	NC_000013.11:g.41699111C>T	ExAC,TOPMed,gnomAD
rs1007788671	p.Ser1176Arg	missense variant	-	NC_000013.11:g.41699107A>T	gnomAD
rs1231581938	p.Ser1176Asn	missense variant	-	NC_000013.11:g.41699108C>T	gnomAD
rs1313284220	p.Leu1178Phe	missense variant	-	NC_000013.11:g.41699103G>A	gnomAD
rs374019508	p.Lys1179Glu	missense variant	-	NC_000013.11:g.41699100T>C	ESP,ExAC,TOPMed,gnomAD
rs1373075131	p.Gly1180Val	missense variant	-	NC_000013.11:g.41699096C>A	TOPMed,gnomAD
NCI-TCGA novel	p.Gln1181Glu	missense variant	-	NC_000013.11:g.41699094G>C	NCI-TCGA
rs371185408	p.His1185Arg	missense variant	-	NC_000013.11:g.41699081T>C	ESP,ExAC,TOPMed,gnomAD
rs371185408	p.His1185Pro	missense variant	-	NC_000013.11:g.41699081T>G	ESP,ExAC,TOPMed,gnomAD
rs1466663602	p.Gln1187Glu	missense variant	-	NC_000013.11:g.41699076G>C	TOPMed,gnomAD
rs531668890	p.Gln1187Pro	missense variant	-	NC_000013.11:g.41699075T>G	TOPMed
rs778843925	p.Gln1188Ter	stop gained	-	NC_000013.11:g.41699073G>A	ExAC,TOPMed,gnomAD
rs777705771	p.Ser1189Gly	missense variant	-	NC_000013.11:g.41692972T>C	ExAC,gnomAD
rs1283756067	p.Asn1190Asp	missense variant	-	NC_000013.11:g.41692969T>C	gnomAD
rs374051267	p.Asn1190Ser	missense variant	-	NC_000013.11:g.41692968T>C	ESP,ExAC,TOPMed,gnomAD
rs752106722	p.Val1191ValTerLeuTyrThrTyrLeuTrpLeuTyrUnk	stop gained	-	NC_000013.11:g.41692964_41692965insTATATAACCATAGATATGTGTATAATTAA	ExAC
rs1342300220	p.Val1191Leu	missense variant	-	NC_000013.11:g.41692966C>G	gnomAD
rs180726553	p.Leu1194Ser	missense variant	-	NC_000013.11:g.41692956A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs750185690	p.Asp1196His	missense variant	-	NC_000013.11:g.41692951C>G	ExAC,gnomAD
COSM947480	p.Asp1196Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41692951C>A	NCI-TCGA Cosmic
rs574765979	p.Thr1197Ala	missense variant	-	NC_000013.11:g.41692948T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs756845704	p.Thr1197Asn	missense variant	-	NC_000013.11:g.41692947G>T	ExAC,TOPMed,gnomAD
rs751273853	p.Thr1198Ile	missense variant	-	NC_000013.11:g.41692944G>A	ExAC,gnomAD
rs1234683160	p.Thr1198Ala	missense variant	-	NC_000013.11:g.41692945T>C	TOPMed
rs369285520	p.Arg1200Gln	missense variant	-	NC_000013.11:g.41692938C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs150345391	p.Arg1200Gly	missense variant	-	NC_000013.11:g.41692939G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs150345391	p.Arg1200Trp	missense variant	-	NC_000013.11:g.41692939G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs753154954	p.Ala1201Thr	missense variant	-	NC_000013.11:g.41692936C>T	ExAC,TOPMed,gnomAD
rs753154954	p.Ala1201Ser	missense variant	-	NC_000013.11:g.41692936C>A	ExAC,TOPMed,gnomAD
rs61733775	p.Ala1201Val	missense variant	-	NC_000013.11:g.41692935G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs776856043	p.Leu1202Ile	missense variant	-	NC_000013.11:g.41692933G>T	ExAC,gnomAD
rs771388715	p.His1203Arg	missense variant	-	NC_000013.11:g.41692929T>C	ExAC,gnomAD
rs368531097	p.Arg1204Leu	missense variant	-	NC_000013.11:g.41692926C>A	ESP,TOPMed,gnomAD
rs372315714	p.Arg1204Gly	missense variant	-	NC_000013.11:g.41692927G>C	ESP,ExAC,TOPMed,gnomAD
rs368531097	p.Arg1204His	missense variant	-	NC_000013.11:g.41692926C>T	ESP,TOPMed,gnomAD
rs372315714	p.Arg1204Cys	missense variant	-	NC_000013.11:g.41692927G>A	ESP,ExAC,TOPMed,gnomAD
rs1227672887	p.Leu1205Val	missense variant	-	NC_000013.11:g.41692924G>C	TOPMed,gnomAD
rs748249125	p.Ile1206Met	missense variant	-	NC_000013.11:g.41692919G>C	ExAC,gnomAD
rs772241657	p.Ile1206Val	missense variant	-	NC_000013.11:g.41692921T>C	ExAC,gnomAD
rs780068099	p.Leu1207Phe	missense variant	-	NC_000013.11:g.41692918G>A	ExAC,gnomAD
rs571920760	p.Pro1208Ala	missense variant	-	NC_000013.11:g.41692915G>C	TOPMed,gnomAD
rs571920760	p.Pro1208Ser	missense variant	-	NC_000013.11:g.41692915G>A	TOPMed,gnomAD
rs571920760	p.Pro1208Thr	missense variant	-	NC_000013.11:g.41692915G>T	TOPMed,gnomAD
rs745872533	p.Glu1210Lys	missense variant	-	NC_000013.11:g.41692909C>T	ExAC,gnomAD
COSM3813827	p.Lys1211Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000013.11:g.41692906T>A	NCI-TCGA Cosmic
rs1429761127	p.Ser1214Cys	missense variant	-	NC_000013.11:g.41692896G>C	gnomAD
rs1391502476	p.Lys1216Asn	missense variant	-	NC_000013.11:g.41692889T>A	gnomAD
rs757115134	p.Pro1217Thr	missense variant	-	NC_000013.11:g.41692888G>T	ExAC,TOPMed,gnomAD
rs891838818	p.Trp1220Ter	stop gained	-	NC_000013.11:g.41692878C>T	TOPMed,gnomAD
rs1246687985	p.Asn1221Ser	missense variant	-	NC_000013.11:g.41692875T>C	gnomAD
rs751131106	p.Glu1224Ala	missense variant	-	NC_000013.11:g.41692866T>G	ExAC,gnomAD
rs370449841	p.Tyr1228Ter	stop gained	-	NC_000013.11:g.41691930A>C	ESP,ExAC,TOPMed,gnomAD
rs1279164904	p.TyrLys1228Ter	stop gained	-	NC_000013.11:g.41691931_41691932del	gnomAD
rs1348223712	p.Met1230Ile	missense variant	-	NC_000013.11:g.41691924C>T	TOPMed,gnomAD
rs770582729	p.Met1230Thr	missense variant	-	NC_000013.11:g.41691925A>G	ExAC,TOPMed,gnomAD
rs986243594	p.Cys1231Arg	missense variant	-	NC_000013.11:g.41691923A>G	gnomAD
rs201345402	p.Lys1232Glu	missense variant	-	NC_000013.11:g.41691920T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1351934910	p.Glu1233Ter	stop gained	-	NC_000013.11:g.41691917C>A	gnomAD
rs777340047	p.Glu1233Asp	missense variant	-	NC_000013.11:g.41691915T>G	ExAC,gnomAD
rs1276823810	p.Phe1234Tyr	missense variant	-	NC_000013.11:g.41691913A>T	TOPMed
rs1218616495	p.Phe1234Leu	missense variant	-	NC_000013.11:g.41691914A>G	TOPMed
rs747857238	p.Val1241Gly	missense variant	-	NC_000013.11:g.41691892A>C	ExAC,gnomAD
rs374735365	p.Phe1242Val	missense variant	-	NC_000013.11:g.41691890A>C	ESP
rs754559781	p.Lys1244Arg	missense variant	-	NC_000013.11:g.41691883T>C	ExAC,TOPMed,gnomAD
rs542801926	p.Lys1244Glu	missense variant	-	NC_000013.11:g.41691884T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs371316163	p.Lys1246Asn	missense variant	-	NC_000013.11:g.41691876T>G	ESP,ExAC,TOPMed,gnomAD
rs1158879098	p.Gly1247Trp	missense variant	-	NC_000013.11:g.41691875C>A	TOPMed,gnomAD
rs1158879098	p.Gly1247Arg	missense variant	-	NC_000013.11:g.41691875C>G	TOPMed,gnomAD
rs1158879098	p.Gly1247Arg	missense variant	-	NC_000013.11:g.41691875C>T	TOPMed,gnomAD
rs1391312817	p.Ser1249Ile	missense variant	-	NC_000013.11:g.41691440C>A	gnomAD
rs748832175	p.Val1252Met	missense variant	-	NC_000013.11:g.41691432C>T	ExAC,gnomAD
rs756628995	p.Asp1254Tyr	missense variant	-	NC_000013.11:g.41691426C>A	ExAC,gnomAD
rs756628995	p.Asp1254His	missense variant	-	NC_000013.11:g.41691426C>G	ExAC,gnomAD
rs751013648	p.Gly1258Glu	missense variant	-	NC_000013.11:g.41691413C>T	ExAC,TOPMed,gnomAD
rs375909557	p.Arg1259Gln	missense variant	-	NC_000013.11:g.41691410C>T	ESP,ExAC,TOPMed,gnomAD
rs1189167901	p.Arg1259Gly	missense variant	-	NC_000013.11:g.41691411G>C	gnomAD
rs751782379	p.Ile1263Val	missense variant	-	NC_000013.11:g.41691399T>C	ExAC,gnomAD
NCI-TCGA novel	p.Leu1265Ile	missense variant	-	NC_000013.11:g.41691393G>T	NCI-TCGA
NCI-TCGA novel	p.Pro1266Ser	missense variant	-	NC_000013.11:g.41691390G>A	NCI-TCGA
rs1210717479	p.Val1272Phe	missense variant	-	NC_000013.11:g.41691372C>A	gnomAD
rs1264755870	p.Asp1278Asn	missense variant	-	NC_000013.11:g.41691354C>T	TOPMed
rs765293499	p.Asp1278Ala	missense variant	-	NC_000013.11:g.41691353T>G	ExAC,TOPMed,gnomAD
rs1283899393	p.Lys1279Arg	missense variant	-	NC_000013.11:g.41691350T>C	TOPMed,gnomAD
rs760584342	p.Trp1280Ter	stop gained	-	NC_000013.11:g.41691347C>T	ExAC,TOPMed,gnomAD
rs773176394	p.Trp1280Cys	missense variant	-	NC_000013.11:g.41691346C>G	ExAC,TOPMed,gnomAD
rs773176394	p.Trp1280Ter	stop gained	-	NC_000013.11:g.41691346C>T	ExAC,TOPMed,gnomAD
rs1178705263	p.Leu1281Phe	missense variant	-	NC_000013.11:g.41691345G>A	TOPMed
rs771816891	p.Leu1282Pro	missense variant	-	NC_000013.11:g.41691341A>G	ExAC,gnomAD
rs1350680922	p.Val1283Ala	missense variant	-	NC_000013.11:g.41691338A>G	gnomAD
rs571896786	p.Ser1285Gly	missense variant	-	NC_000013.11:g.41691333T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs571896786	p.Ser1285Cys	missense variant	-	NC_000013.11:g.41691333T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1389665445	p.Ser1285Asn	missense variant	-	NC_000013.11:g.41691332C>T	gnomAD
rs768346441	p.Thr1287Lys	missense variant	-	NC_000013.11:g.41691326G>T	ExAC,gnomAD
rs779029050	p.Tyr1291Cys	missense variant	-	NC_000013.11:g.41690270T>C	ExAC,gnomAD
rs564881789	p.Tyr1291Ter	stop gained	-	NC_000013.11:g.41690269A>C	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu1292Ile	missense variant	-	NC_000013.11:g.41690268G>T	NCI-TCGA
rs1308865837	p.Thr1294Ser	missense variant	-	NC_000013.11:g.41690261G>C	gnomAD
rs1400180041	p.Lys1295Glu	missense variant	-	NC_000013.11:g.41690259T>C	gnomAD
rs1416270328	p.Pro1296Ser	missense variant	-	NC_000013.11:g.41690256G>A	TOPMed
rs757160807	p.Ala1297Val	missense variant	-	NC_000013.11:g.41690252G>A	ExAC,gnomAD
rs757160807	p.Ala1297Glu	missense variant	-	NC_000013.11:g.41690252G>T	ExAC,gnomAD
rs1299039310	p.His1298Arg	missense variant	-	NC_000013.11:g.41690249T>C	TOPMed
rs763906323	p.Ile1299Ser	missense variant	-	NC_000013.11:g.41690246A>C	ExAC,gnomAD
rs2274810	p.Glu1300Lys	missense variant	-	NC_000013.11:g.41690244C>T	UniProt,dbSNP
VAR_049512	p.Glu1300Lys	missense variant	-	NC_000013.11:g.41690244C>T	UniProt
rs2274810	p.Glu1300Lys	missense variant	-	NC_000013.11:g.41690244C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs764985944	p.Glu1300Asp	missense variant	-	NC_000013.11:g.41690242T>A	ExAC,gnomAD
rs759327870	p.Glu1302Gly	missense variant	-	NC_000013.11:g.41690237T>C	ExAC,gnomAD
rs747522026	p.Gly1303Asp	missense variant	-	NC_000013.11:g.41690234C>T	ExAC,TOPMed,gnomAD
rs747522026	p.Gly1303Val	missense variant	-	NC_000013.11:g.41690234C>A	ExAC,TOPMed,gnomAD
rs747522026	p.Gly1303Ala	missense variant	-	NC_000013.11:g.41690234C>G	ExAC,TOPMed,gnomAD
rs559628971	p.Val1306Phe	missense variant	-	NC_000013.11:g.41690226C>A	1000Genomes,ExAC,gnomAD
rs772435341	p.Cys1307Arg	missense variant	-	NC_000013.11:g.41690223A>G	ExAC,gnomAD
rs374895334	p.Gln1308Arg	missense variant	-	NC_000013.11:g.41690219T>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Tyr1310Ser	missense variant	-	NC_000013.11:g.41690213T>G	NCI-TCGA
rs1397295902	p.Tyr1310Cys	missense variant	-	NC_000013.11:g.41690213T>C	gnomAD
rs1414144033	p.Lys1313Asn	missense variant	-	NC_000013.11:g.41690203T>A	TOPMed
rs143452573	p.Pro1316Leu	missense variant	-	NC_000013.11:g.41690195G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM3468932	p.Pro1316Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41690196G>A	NCI-TCGA Cosmic
rs1227891317	p.Ser1318Thr	missense variant	-	NC_000013.11:g.41690189C>G	TOPMed
NCI-TCGA novel	p.Thr1319LysPheSerTerUnkUnk	frameshift	-	NC_000013.11:g.41690186G>-	NCI-TCGA
rs376308850	p.Thr1319Ala	missense variant	-	NC_000013.11:g.41690187T>C	ESP,TOPMed,gnomAD
rs1337100393	p.Thr1319Ile	missense variant	-	NC_000013.11:g.41690186G>A	TOPMed
COSM947479	p.Gly1320Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41690183C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Val1323Ala	missense variant	-	NC_000013.11:g.41690174A>G	NCI-TCGA
rs1381250437	p.Val1323Gly	missense variant	-	NC_000013.11:g.41690174A>C	gnomAD
rs749557051	p.Val1323Ile	missense variant	-	NC_000013.11:g.41690175C>T	ExAC,TOPMed,gnomAD
rs912818054	p.Thr1324Lys	missense variant	-	NC_000013.11:g.41690171G>T	TOPMed,gnomAD
rs756215161	p.Gln1325Ter	stop gained	-	NC_000013.11:g.41690169G>A	ExAC,gnomAD
rs751463766	p.Glu1326Lys	missense variant	-	NC_000013.11:g.41690166C>T	ExAC,gnomAD
rs1450243876	p.Phe1329Ile	missense variant	-	NC_000013.11:g.41689500A>T	gnomAD
rs1266872069	p.Ser1330Asn	missense variant	-	NC_000013.11:g.41689496C>T	gnomAD
rs1210686334	p.Ile1331Val	missense variant	-	NC_000013.11:g.41689494T>C	gnomAD
rs781399569	p.Ile1331Thr	missense variant	-	NC_000013.11:g.41689493A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro1332Leu	missense variant	-	NC_000013.11:g.41689490G>A	NCI-TCGA
rs758255400	p.Pro1332Ser	missense variant	-	NC_000013.11:g.41689491G>A	ExAC,gnomAD
rs1419958974	p.His1333Arg	missense variant	-	NC_000013.11:g.41689487T>C	TOPMed
COSM6139196	p.His1333Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41689488G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Lys1334Thr	missense variant	-	NC_000013.11:g.41689484T>G	NCI-TCGA
rs370372362	p.Asp1338Asn	missense variant	-	NC_000013.11:g.41689473C>T	gnomAD
rs1271860403	p.Asp1338Gly	missense variant	-	NC_000013.11:g.41689472T>C	gnomAD
rs1330320897	p.Glu1343Gly	missense variant	-	NC_000013.11:g.41689457T>C	gnomAD
rs1342766593	p.Glu1343Ter	stop gained	-	NC_000013.11:g.41689458C>A	gnomAD
rs1034274905	p.His1344Tyr	missense variant	-	NC_000013.11:g.41689455G>A	gnomAD
NCI-TCGA novel	p.Ala1348Asp	missense variant	-	NC_000013.11:g.41689442G>T	NCI-TCGA
rs1368375464	p.Ala1348Pro	missense variant	-	NC_000013.11:g.41689443C>G	gnomAD
rs374200934	p.Val1349Gly	missense variant	-	NC_000013.11:g.41689439A>C	ESP,TOPMed,gnomAD
rs1434829634	p.Val1349Met	missense variant	-	NC_000013.11:g.41689440C>T	TOPMed
rs766146753	p.Gln1351Arg	missense variant	-	NC_000013.11:g.41689433T>C	ExAC,TOPMed,gnomAD
rs753494143	p.Gln1351Glu	missense variant	-	NC_000013.11:g.41689434G>C	ExAC,TOPMed,gnomAD
rs1019111306	p.Lys1352Glu	missense variant	-	NC_000013.11:g.41689431T>C	TOPMed
rs749902028	p.Ile1353Asn	missense variant	-	NC_000013.11:g.41689427A>T	ExAC,gnomAD
rs767099102	p.Ala1354Ser	missense variant	-	NC_000013.11:g.41689425C>A	ExAC,gnomAD
rs1377455752	p.Ser1355Cys	missense variant	-	NC_000013.11:g.41689421G>C	TOPMed,gnomAD
rs762191853	p.Asn1357Ser	missense variant	-	NC_000013.11:g.41689415T>C	ExAC,gnomAD
NCI-TCGA novel	p.Ile1359Asn	missense variant	-	NC_000013.11:g.41689409A>T	NCI-TCGA
rs768957129	p.Leu1360His	missense variant	-	NC_000013.11:g.41689406A>T	ExAC,gnomAD
rs202210279	p.Ser1361Leu	missense variant	-	NC_000013.11:g.41689403G>A	1000Genomes,ExAC,gnomAD
rs190685397	p.Lys1364Glu	missense variant	-	NC_000013.11:g.41689395T>C	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asn1365Lys	missense variant	-	NC_000013.11:g.41689390A>C	NCI-TCGA
rs746158873	p.Asn1365Ser	missense variant	-	NC_000013.11:g.41689391T>C	ExAC,gnomAD
rs781111359	p.Tyr1366Asp	missense variant	-	NC_000013.11:g.41689389A>C	ExAC,gnomAD
rs1225182268	p.Ala1367Val	missense variant	-	NC_000013.11:g.41689385G>A	gnomAD
rs370773201	p.Ile1369Val	missense variant	-	NC_000013.11:g.41689380T>C	ESP,ExAC,TOPMed,gnomAD
COSM6074661	p.Ile1369Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41689379A>C	NCI-TCGA Cosmic
rs748060899	p.Val1370Ile	missense variant	-	NC_000013.11:g.41689377C>T	ExAC,gnomAD
rs779018182	p.Val1371Ile	missense variant	-	NC_000013.11:g.41689374C>T	ExAC,gnomAD
rs1331414796	p.Gly1372Asp	missense variant	-	NC_000013.11:g.41689370C>T	gnomAD
rs200321917	p.Pro1374Ser	missense variant	-	NC_000013.11:g.41689365G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs753693378	p.Met1377Val	missense variant	-	NC_000013.11:g.41689356T>C	ExAC,gnomAD
rs1279685434	p.Met1377Ile	missense variant	-	NC_000013.11:g.41689354C>T	TOPMed
rs770869044	p.Ser1378Thr	missense variant	-	NC_000013.11:g.41685242A>T	ExAC,gnomAD
rs1468944080	p.Ser1380Thr	missense variant	-	NC_000013.11:g.41685235C>G	TOPMed
NCI-TCGA novel	p.Trp1385Cys	missense variant	-	NC_000013.11:g.41685219C>A	NCI-TCGA
NCI-TCGA novel	p.Trp1385Ter	stop gained	-	NC_000013.11:g.41685219C>T	NCI-TCGA
rs747100636	p.Lys1386Arg	missense variant	-	NC_000013.11:g.41685217T>C	ExAC,gnomAD
rs768713345	p.Arg1387Lys	missense variant	-	NC_000013.11:g.41685214C>T	ExAC,gnomAD
rs979394476	p.Arg1387Ter	stop gained	-	NC_000013.11:g.41685215T>A	TOPMed,gnomAD
rs749300296	p.Pro1388Ser	missense variant	-	NC_000013.11:g.41685212G>A	ExAC,gnomAD
rs1382236716	p.Lys1393Arg	missense variant	-	NC_000013.11:g.41685196T>C	TOPMed
rs567169842	p.Arg1394Leu	missense variant	-	NC_000013.11:g.41685193C>A	ExAC,TOPMed,gnomAD
rs567169842	p.Arg1394Gln	missense variant	-	NC_000013.11:g.41685193C>T	ExAC,TOPMed,gnomAD
rs567169842	p.Arg1394Pro	missense variant	-	NC_000013.11:g.41685193C>G	ExAC,TOPMed,gnomAD
rs201613831	p.Arg1394Ter	stop gained	-	NC_000013.11:g.41685194G>A	ESP,ExAC,TOPMed,gnomAD
rs1225781871	p.Ser1395Thr	missense variant	-	NC_000013.11:g.41685190C>G	TOPMed
rs780907908	p.Gly1396Val	missense variant	-	NC_000013.11:g.41685187C>A	ExAC,TOPMed,gnomAD
rs780907908	p.Gly1396Asp	missense variant	-	NC_000013.11:g.41685187C>T	ExAC,TOPMed,gnomAD
rs369059134	p.Thr1397Ala	missense variant	-	NC_000013.11:g.41685185T>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp1398Gly	missense variant	-	NC_000013.11:g.41685181T>C	NCI-TCGA
rs182336666	p.Asp1398His	missense variant	-	NC_000013.11:g.41685182C>G	1000Genomes,ExAC,gnomAD
rs1347122024	p.Thr1399Lys	missense variant	-	NC_000013.11:g.41685178G>T	gnomAD
NCI-TCGA novel	p.Ser1400Ter	stop gained	-	NC_000013.11:g.41685175G>C	NCI-TCGA
rs758879710	p.Tyr1402Cys	missense variant	-	NC_000013.11:g.41685169T>C	ExAC,gnomAD
rs148225674	p.Gly1404Arg	missense variant	-	NC_000013.11:g.41685164C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs373518560	p.Gly1404Glu	missense variant	-	NC_000013.11:g.41685163C>T	ESP,ExAC,TOPMed,gnomAD
rs776661352	p.Lys1406Gln	missense variant	-	NC_000013.11:g.41685158T>G	ExAC,gnomAD
rs761047784	p.Arg1408Lys	missense variant	-	NC_000013.11:g.41685151C>T	ExAC,gnomAD
rs773416393	p.Gly1409Glu	missense variant	-	NC_000013.11:g.41685148C>T	ExAC,TOPMed,gnomAD
rs749193925	p.Lys1412Glu	missense variant	-	NC_000013.11:g.41685140T>C	ExAC,gnomAD
rs769415597	p.Asn1415Ser	missense variant	-	NC_000013.11:g.41685130T>C	ExAC,TOPMed,gnomAD
rs780913511	p.Thr1418Ala	missense variant	-	NC_000013.11:g.41685122T>C	ExAC,TOPMed
rs746712975	p.Leu1420Ile	missense variant	-	NC_000013.11:g.41685116A>T	ExAC,gnomAD
NCI-TCGA novel	p.Thr1422Met	missense variant	-	NC_000013.11:g.41685109G>A	NCI-TCGA
rs1297522866	p.Thr1422Ala	missense variant	-	NC_000013.11:g.41685110T>C	TOPMed,gnomAD
rs202017651	p.Gln1424Arg	missense variant	-	NC_000013.11:g.41685103T>C	1000Genomes,ESP,ExAC,gnomAD
rs371884722	p.Val1425Ile	missense variant	-	NC_000013.11:g.41685101C>T	ESP,ExAC,TOPMed,gnomAD
rs1435990982	p.Val1426Ala	missense variant	-	NC_000013.11:g.41685097A>G	gnomAD
rs1366482253	p.Arg1427Ser	missense variant	-	NC_000013.11:g.41685093C>A	gnomAD
rs1305019906	p.Leu1429Ter	stop gained	-	NC_000013.11:g.41685088A>T	TOPMed,gnomAD
rs765789141	p.Pro1430Ser	missense variant	-	NC_000013.11:g.41685086G>A	ExAC,gnomAD
rs754229206	p.Gly1432Glu	missense variant	-	NC_000013.11:g.41685079C>T	ExAC,TOPMed,gnomAD
rs766716447	p.Glu1433Gln	missense variant	-	NC_000013.11:g.41685077C>G	ExAC,gnomAD
rs369463458	p.Pro1435Leu	missense variant	-	NC_000013.11:g.41685070G>A	ESP,ExAC,TOPMed,gnomAD
rs1202328028	p.Leu1436Gln	missense variant	-	NC_000013.11:g.41685067A>T	gnomAD
rs1404658123	p.Lys1437Thr	missense variant	-	NC_000013.11:g.41685064T>G	TOPMed
rs1274490671	p.Asp1438Gly	missense variant	-	NC_000013.11:g.41685061T>C	TOPMed,gnomAD
COSM947478	p.Asp1438Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41685062C>A	NCI-TCGA Cosmic
rs748243038	p.Asp1438IlePheSerTerUnkUnk	frameshift	-	NC_000013.11:g.41685063T>-	NCI-TCGA,NCI-TCGA Cosmic
rs78161810	p.Ile1439Leu	missense variant	-	NC_000013.11:g.41685059T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs761992111	p.Ile1439Thr	missense variant	-	NC_000013.11:g.41685058A>G	ExAC,gnomAD
rs189748469	p.Tyr1440Phe	missense variant	-	NC_000013.11:g.41685055T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs775235301	p.Tyr1440His	missense variant	-	NC_000013.11:g.41685056A>G	ExAC,TOPMed,gnomAD
rs372865939	p.Val1444Asp	missense variant	-	NC_000013.11:g.41675293A>T	ESP,ExAC,gnomAD
rs772792902	p.Thr1445Ile	missense variant	-	NC_000013.11:g.41675290G>A	ExAC,gnomAD
rs1365795973	p.Pro1446Leu	missense variant	-	NC_000013.11:g.41675287G>A	TOPMed
rs771698239	p.Pro1446Ser	missense variant	-	NC_000013.11:g.41675288G>A	ExAC,gnomAD
rs1421549226	p.Gln1448Ter	stop gained	-	NC_000013.11:g.41675282G>A	TOPMed,gnomAD
COSM75123	p.Ser1450Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41675275G>C	NCI-TCGA Cosmic
rs778451548	p.Gly1451Asp	missense variant	-	NC_000013.11:g.41675272C>T	ExAC,gnomAD
rs768097273	p.Tyr1452Asn	missense variant	-	NC_000013.11:g.41675270A>T	ExAC,TOPMed,gnomAD
rs749766901	p.Tyr1452Cys	missense variant	-	NC_000013.11:g.41675269T>C	ExAC,gnomAD
rs750806395	p.Ile1453Thr	missense variant	-	NC_000013.11:g.41675266A>G	ExAC,TOPMed,gnomAD
rs41288289	p.Ile1453Leu	missense variant	-	NC_000013.11:g.41675267T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs41288289	p.Ile1453Val	missense variant	-	NC_000013.11:g.41675267T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1350218532	p.Asp1457Ala	missense variant	-	NC_000013.11:g.41675254T>G	TOPMed,gnomAD
rs1350218532	p.Asp1457Gly	missense variant	-	NC_000013.11:g.41675254T>C	TOPMed,gnomAD
rs1350218532	p.Asp1457Gly	missense variant	-	NC_000013.11:g.41675254T>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Lys1461Asn	missense variant	-	NC_000013.11:g.41675241C>G	NCI-TCGA
rs1241197159	p.Lys1461Glu	missense variant	-	NC_000013.11:g.41675243T>C	gnomAD
COSM947476	p.Lys1461Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41675241C>A	NCI-TCGA Cosmic
rs559089724	p.Arg1464Gln	missense variant	-	NC_000013.11:g.41675233C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs757308360	p.Arg1464Ter	stop gained	-	NC_000013.11:g.41675234G>A	ExAC,TOPMed,gnomAD
rs757308360	p.Arg1464Ter	stop gained	-	NC_000013.11:g.41675234G>A	NCI-TCGA,NCI-TCGA Cosmic
rs1283349836	p.Tyr1465Cys	missense variant	-	NC_000013.11:g.41675230T>C	TOPMed
rs375177854	p.Tyr1465Asn	missense variant	-	NC_000013.11:g.41675231A>T	ESP,ExAC,TOPMed,gnomAD
rs370941665	p.Tyr1465Ter	stop gained	-	NC_000013.11:g.41675229A>T	ESP,ExAC,TOPMed,gnomAD
rs370941665	p.Tyr1465Ter	stop gained	-	NC_000013.11:g.41675229A>C	ESP,ExAC,TOPMed,gnomAD
rs762974933	p.Ile1466Val	missense variant	-	NC_000013.11:g.41675228T>C	ExAC,gnomAD
rs753708487	p.Pro1467Ser	missense variant	-	NC_000013.11:g.41675225G>A	ExAC,gnomAD
rs1455897763	p.Ile1468Val	missense variant	-	NC_000013.11:g.41675222T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Glu1472Gln	missense variant	-	NC_000013.11:g.41671143C>G	NCI-TCGA
rs747215747	p.Glu1472Lys	missense variant	-	NC_000013.11:g.41671143C>T	ExAC,gnomAD
rs1490865143	p.Ser1475Leu	missense variant	-	NC_000013.11:g.41671133G>A	NCI-TCGA
rs1490865143	p.Ser1475Leu	missense variant	-	NC_000013.11:g.41671133G>A	TOPMed,gnomAD
rs1223234714	p.Ser1475Pro	missense variant	-	NC_000013.11:g.41671134A>G	gnomAD
NCI-TCGA novel	p.Pro1476Gln	missense variant	-	NC_000013.11:g.41671130G>T	NCI-TCGA
rs752758480	p.Pro1476Leu	missense variant	-	NC_000013.11:g.41671130G>A	ExAC,TOPMed,gnomAD
rs1314575319	p.Thr1478Ile	missense variant	-	NC_000013.11:g.41671124G>A	TOPMed
rs750407003	p.Thr1479Ile	missense variant	-	NC_000013.11:g.41671121G>A	ExAC,gnomAD
rs370376270	p.Thr1479Pro	missense variant	-	NC_000013.11:g.41671122T>G	ESP,ExAC,TOPMed,gnomAD
rs761539962	p.Trp1480Ter	stop gained	-	NC_000013.11:g.41671118C>T	ExAC,gnomAD
rs1283539205	p.Trp1480Ter	stop gained	-	NC_000013.11:g.41671117C>T	gnomAD
rs774000962	p.Ser1482Leu	missense variant	-	NC_000013.11:g.41671112G>A	ExAC,TOPMed,gnomAD
rs1327652330	p.Thr1483Asn	missense variant	-	NC_000013.11:g.41671109G>T	gnomAD
rs762763924	p.Ile1484Val	missense variant	-	NC_000013.11:g.41671107T>C	ExAC,gnomAD
NCI-TCGA novel	p.Ala1492Ser	missense variant	-	NC_000013.11:g.41671083C>A	NCI-TCGA
NCI-TCGA novel	p.Ala1492Thr	missense variant	-	NC_000013.11:g.41671083C>T	NCI-TCGA
rs769479504	p.Glu1493Gly	missense variant	-	NC_000013.11:g.41671079T>C	ExAC,gnomAD
rs746329626	p.Trp1494Ter	stop gained	-	NC_000013.11:g.41671075C>T	ExAC,gnomAD
rs777308406	p.Asp1495Asn	missense variant	-	NC_000013.11:g.41671074C>T	ExAC,gnomAD
rs777308406	p.Asp1495Asn	missense variant	-	NC_000013.11:g.41671074C>T	NCI-TCGA
rs1181254020	p.Gly1498Asp	missense variant	-	NC_000013.11:g.41671064C>T	gnomAD
rs747347146	p.Gly1498Ser	missense variant	-	NC_000013.11:g.41671065C>T	ExAC,TOPMed,gnomAD
COSM696559	p.Val1499Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41671062C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Val1500Ala	missense variant	-	NC_000013.11:g.41671058A>G	NCI-TCGA
NCI-TCGA novel	p.Val1500Gly	missense variant	-	NC_000013.11:g.41671058A>C	NCI-TCGA
rs577232520	p.Val1500Ile	missense variant	-	NC_000013.11:g.41671059C>T	1000Genomes,ExAC,gnomAD
rs577232520	p.Val1500Phe	missense variant	-	NC_000013.11:g.41671059C>A	1000Genomes,ExAC,gnomAD
rs748407488	p.Val1502Leu	missense variant	-	NC_000013.11:g.41671053C>G	ExAC,TOPMed,gnomAD
rs748407488	p.Val1502Phe	missense variant	-	NC_000013.11:g.41671053C>A	ExAC,TOPMed,gnomAD
rs1263330582	p.Met1504Val	missense variant	-	NC_000013.11:g.41671047T>C	gnomAD
rs1349072716	p.Gly1506Cys	missense variant	-	NC_000013.11:g.41671041C>A	TOPMed
rs1278436373	p.Ile1508Val	missense variant	-	NC_000013.11:g.41671035T>C	TOPMed,gnomAD
rs1278436373	p.Ile1508Phe	missense variant	-	NC_000013.11:g.41671035T>A	TOPMed,gnomAD
NCI-TCGA novel	p.Arg1509Gly	missense variant	-	NC_000013.11:g.41671032T>C	NCI-TCGA
rs200757216	p.Arg1509Trp	missense variant	-	NC_000013.11:g.41671032T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1336802163	p.Leu1510Phe	missense variant	-	NC_000013.11:g.41671029G>A	gnomAD
rs1331476986	p.Trp1511Gly	missense variant	-	NC_000013.11:g.41671026A>C	gnomAD
rs372498736	p.Arg1517Cys	missense variant	-	NC_000013.11:g.41671008G>A	ESP,ExAC,TOPMed,gnomAD
rs762528080	p.Arg1517His	missense variant	-	NC_000013.11:g.41671007C>T	ExAC,TOPMed,gnomAD
rs372498736	p.Arg1517Cys	missense variant	-	NC_000013.11:g.41671008G>A	NCI-TCGA
rs762528080	p.Arg1517His	missense variant	-	NC_000013.11:g.41671007C>T	NCI-TCGA
RCV000755130	p.Arg1520Ter	nonsense	Nonsyndromic cleft lip palate	NC_000013.11:g.41670999G>A	ClinVar
rs751311007	p.Arg1520Gln	missense variant	-	NC_000013.11:g.41670998C>T	ExAC,TOPMed,gnomAD
rs370112959	p.Arg1520Ter	stop gained	-	NC_000013.11:g.41670999G>A	ESP,ExAC,TOPMed,gnomAD
rs370112959	p.Arg1520Ter	stop gained	-	NC_000013.11:g.41670999G>A	NCI-TCGA
rs1470559238	p.Met1523Val	missense variant	-	NC_000013.11:g.41670990T>C	TOPMed,gnomAD
rs763992144	p.Met1523Lys	missense variant	-	NC_000013.11:g.41670989A>T	ExAC,gnomAD
rs375522079	p.Trp1525Arg	missense variant	-	NC_000013.11:g.41670984A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs775305708	p.Gly1530Arg	missense variant	-	NC_000013.11:g.41670969C>T	ExAC,TOPMed,gnomAD
rs764801777	p.Gln1531Ter	stop gained	-	NC_000013.11:g.41670966G>A	ExAC,gnomAD
rs1283125415	p.Asp1533Gly	missense variant	-	NC_000013.11:g.41670959T>C	gnomAD
rs1349206243	p.Met1536Ile	missense variant	-	NC_000013.11:g.41670949C>T	TOPMed
rs771328858	p.Met1536Val	missense variant	-	NC_000013.11:g.41670951T>C	ExAC,TOPMed,gnomAD
rs1316363383	p.Ile1538Met	missense variant	-	NC_000013.11:g.41615082T>C	gnomAD
rs1325275096	p.Ile1540Val	missense variant	-	NC_000013.11:g.41615078T>C	TOPMed,gnomAD
rs765953140	p.Ser1544Asn	missense variant	-	NC_000013.11:g.41615065C>T	ExAC,gnomAD
COSM3688717	p.Ser1544Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41615065C>G	NCI-TCGA Cosmic
rs1360346354	p.Gly1545Cys	missense variant	-	NC_000013.11:g.41615063C>A	gnomAD
rs761061482	p.Asp1547Glu	missense variant	-	NC_000013.11:g.41615055A>C	ExAC,gnomAD
rs1431728072	p.Asp1547Gly	missense variant	-	NC_000013.11:g.41615056T>C	gnomAD
rs1435980736	p.Val1548Ala	missense variant	-	NC_000013.11:g.41615053A>G	gnomAD
rs762166688	p.Ser1549Thr	missense variant	-	NC_000013.11:g.41615050C>G	ExAC,gnomAD
rs762166688	p.Ser1549Ile	missense variant	-	NC_000013.11:g.41615050C>A	ExAC,gnomAD
COSM3468928	p.Ser1550Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41615047G>A	NCI-TCGA Cosmic
rs749567457	p.Lys1552Ile	missense variant	-	NC_000013.11:g.41615041T>A	ExAC,TOPMed,gnomAD
rs749567457	p.Lys1552Arg	missense variant	-	NC_000013.11:g.41615041T>C	ExAC,TOPMed,gnomAD
rs769939843	p.His1553Arg	missense variant	-	NC_000013.11:g.41615038T>C	ExAC,TOPMed,gnomAD
rs190408463	p.Gly1554Trp	missense variant	-	NC_000013.11:g.41615036C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs190408463	p.Gly1554Arg	missense variant	-	NC_000013.11:g.41615036C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1476829744	p.Lys1555Glu	missense variant	-	NC_000013.11:g.41615033T>C	TOPMed
rs752525858	p.Lys1555Arg	missense variant	-	NC_000013.11:g.41615032T>C	ExAC,gnomAD
rs778917919	p.Glu1556Asp	missense variant	-	NC_000013.11:g.41615028C>G	ExAC,TOPMed,gnomAD
rs754645120	p.Asp1557Ala	missense variant	-	NC_000013.11:g.41615026T>G	ExAC,gnomAD
rs753574391	p.Asp1559Gly	missense variant	-	NC_000013.11:g.41615020T>C	ExAC,TOPMed,gnomAD
rs765754983	p.Asn1560Ser	missense variant	-	NC_000013.11:g.41615017T>C	ExAC,TOPMed,gnomAD
rs1306315689	p.Met1561Val	missense variant	-	NC_000013.11:g.41615015T>C	gnomAD
rs1156646058	p.His1563Asp	missense variant	-	NC_000013.11:g.41615009G>C	TOPMed
rs73464952	p.Val1564Met	missense variant	-	NC_000013.11:g.41615006C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs73464952	p.Val1564Leu	missense variant	-	NC_000013.11:g.41615006C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs924161830	p.Val1564Ala	missense variant	-	NC_000013.11:g.41615005A>G	TOPMed,gnomAD
RCV000755129	p.Val1564Leu	missense variant	Nonsyndromic cleft lip palate	NC_000013.11:g.41615006C>G	ClinVar
rs762377355	p.Gly1565Asp	missense variant	-	NC_000013.11:g.41615002C>T	ExAC,gnomAD
rs1238383458	p.Gly1566Val	missense variant	-	NC_000013.11:g.41614999C>A	TOPMed
rs201234564	p.Gly1566Ser	missense variant	-	NC_000013.11:g.41615000C>T	TOPMed
rs201234564	p.Gly1566Ser	missense variant	-	NC_000013.11:g.41615000C>T	NCI-TCGA
rs1305078110	p.Asn1567Thr	missense variant	-	NC_000013.11:g.41614996T>G	gnomAD
rs968315282	p.Trp1569Ter	stop gained	-	NC_000013.11:g.41614989C>T	TOPMed
rs763038461	p.Trp1569Arg	missense variant	-	NC_000013.11:g.41614991A>G	ExAC,gnomAD
rs769696371	p.Ala1570Val	missense variant	-	NC_000013.11:g.41614987G>A	ExAC,TOPMed,gnomAD
rs775815414	p.Ala1570Thr	missense variant	-	NC_000013.11:g.41614988C>T	ExAC,TOPMed,gnomAD
rs1480580762	p.Gly1572Ala	missense variant	-	NC_000013.11:g.41614981C>G	gnomAD
rs756577838	p.Gly1572Arg	missense variant	-	NC_000013.11:g.41614982C>T	TOPMed,gnomAD
rs756577838	p.Gly1572Arg	missense variant	-	NC_000013.11:g.41614982C>G	TOPMed,gnomAD
COSM3793291	p.Gly1572Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41614981C>T	NCI-TCGA Cosmic
rs201318560	p.Gly1574Glu	missense variant	-	NC_000013.11:g.41611732C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs201318560	p.Gly1574Ala	missense variant	-	NC_000013.11:g.41611732C>G	1000Genomes,ExAC,TOPMed,gnomAD
COSM3468927	p.Gly1574Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41614976C>T	NCI-TCGA Cosmic
rs764403148	p.Gly1575Ter	stop gained	-	NC_000013.11:g.41611730C>A	ExAC,TOPMed,gnomAD
rs1486023707	p.Gly1575Glu	missense variant	-	NC_000013.11:g.41611729C>T	TOPMed
COSM1366914	p.Gly1575GluPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000013.11:g.41611729C>-	NCI-TCGA Cosmic
rs1394457941	p.Arg1576Gly	missense variant	-	NC_000013.11:g.41611727T>C	TOPMed,gnomAD
rs763382129	p.Arg1576Lys	missense variant	-	NC_000013.11:g.41611726C>T	ExAC,gnomAD
rs775517679	p.Asp1577Asn	missense variant	-	NC_000013.11:g.41611724C>T	ExAC,gnomAD
rs371253730	p.Thr1578Lys	missense variant	-	NC_000013.11:g.41611720G>T	ESP,ExAC,TOPMed,gnomAD
rs371253730	p.Thr1578Met	missense variant	-	NC_000013.11:g.41611720G>A	ESP,ExAC,TOPMed,gnomAD
COSM3987405	p.Ala1579Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41611717G>C	NCI-TCGA Cosmic
rs1174131708	p.Ala1579Thr	missense variant	-	NC_000013.11:g.41611718C>T	TOPMed
rs1346001028	p.Gly1582Asp	missense variant	-	NC_000013.11:g.41611708C>T	TOPMed
rs774458741	p.Gly1582Ser	missense variant	-	NC_000013.11:g.41611709C>T	NCI-TCGA
rs774458741	p.Gly1582Ser	missense variant	-	NC_000013.11:g.41611709C>T	ExAC,gnomAD
rs774458741	p.Gly1582Cys	missense variant	-	NC_000013.11:g.41611709C>A	ExAC,gnomAD
rs566787660	p.Gly1583Asp	missense variant	-	NC_000013.11:g.41611705C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs566787660	p.Gly1583Val	missense variant	-	NC_000013.11:g.41611705C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1364854976	p.Gly1586Asp	missense variant	-	NC_000013.11:g.41611696C>T	TOPMed
rs1318924232	p.Gly1586Arg	missense variant	-	NC_000013.11:g.41611697C>G	TOPMed
rs779768418	p.Tyr1588His	missense variant	-	NC_000013.11:g.41611691A>G	ExAC,TOPMed,gnomAD
rs1380564686	p.Arg1589Gln	missense variant	-	NC_000013.11:g.41611687C>T	NCI-TCGA Cosmic
rs367688672	p.Arg1589Trp	missense variant	-	NC_000013.11:g.41611688G>A	ESP,ExAC,TOPMed,gnomAD
rs1380564686	p.Arg1589Gln	missense variant	-	NC_000013.11:g.41611687C>T	gnomAD
rs1343506468	p.Leu1590Gln	missense variant	-	NC_000013.11:g.41611684A>T	TOPMed
rs745573194	p.Ala1592Thr	missense variant	-	NC_000013.11:g.41611679C>T	ExAC,TOPMed,gnomAD
rs780634410	p.Gly1593Ser	missense variant	-	NC_000013.11:g.41611676C>T	ExAC,gnomAD
rs751999192	p.His1594Tyr	missense variant	-	NC_000013.11:g.41611673G>A	ExAC,gnomAD
rs1363845266	p.His1594Leu	missense variant	-	NC_000013.11:g.41611672T>A	gnomAD
rs764674854	p.Thr1595Met	missense variant	-	NC_000013.11:g.41611669G>A	ExAC,TOPMed,gnomAD
rs1245840635	p.Val1596Leu	missense variant	-	NC_000013.11:g.41611667C>A	TOPMed
rs1383927740	p.Gln1598Ter	stop gained	-	NC_000013.11:g.41611661G>A	gnomAD
rs1183305310	p.Gln1598Leu	missense variant	-	NC_000013.11:g.41611660T>A	gnomAD
rs1462060201	p.Gln1598His	missense variant	-	NC_000013.11:g.41611659C>G	gnomAD
rs753100900	p.Val1599Ala	missense variant	-	NC_000013.11:g.41611657A>G	ExAC,gnomAD
rs371271175	p.Ala1602Ser	missense variant	-	NC_000013.11:g.41611649C>A	TOPMed,gnomAD
rs371271175	p.Ala1602Thr	missense variant	-	NC_000013.11:g.41611649C>T	TOPMed,gnomAD
rs759779447	p.Asp1605His	missense variant	-	NC_000013.11:g.41611640C>G	ExAC,TOPMed,gnomAD
rs759779447	p.Asp1605Asn	missense variant	-	NC_000013.11:g.41611640C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala1606Thr	missense variant	-	NC_000013.11:g.41611637C>T	NCI-TCGA
rs770225079	p.Glu1609Lys	missense variant	-	NC_000013.11:g.41611628C>T	ExAC,TOPMed,gnomAD
rs760838830	p.Val1611Phe	missense variant	-	NC_000013.11:g.41611622C>A	ExAC,gnomAD
rs774368910	p.Val1611Ala	missense variant	-	NC_000013.11:g.41611621A>G	ExAC,TOPMed,gnomAD
rs774368910	p.Val1611Gly	missense variant	-	NC_000013.11:g.41611621A>C	ExAC,TOPMed,gnomAD
rs200944707	p.Arg1613Ile	missense variant	-	NC_000013.11:g.41611615C>A	ESP,ExAC,TOPMed,gnomAD
rs769501655	p.Arg1616Thr	missense variant	-	NC_000013.11:g.41611606C>G	ExAC,TOPMed,gnomAD
rs745484664	p.Glu1617Lys	missense variant	-	NC_000013.11:g.41611604C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Met1618Thr	missense variant	-	NC_000013.11:g.41611600A>G	NCI-TCGA
rs780828541	p.Arg1621Gly	missense variant	-	NC_000013.11:g.41611592T>C	ExAC
rs746508858	p.Ala1622Thr	missense variant	-	NC_000013.11:g.41611589C>T	ExAC,gnomAD
rs746508858	p.Ala1622Pro	missense variant	-	NC_000013.11:g.41611589C>G	ExAC,gnomAD
rs913493645	p.Phe1623Leu	missense variant	-	NC_000013.11:g.41611584G>C	TOPMed,gnomAD
COSM3885340	p.Gln1624Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000013.11:g.41611583G>A	NCI-TCGA Cosmic
rs1163538197	p.Arg1626Lys	missense variant	-	NC_000013.11:g.41611576C>T	gnomAD
rs1221281894	p.Leu1627Arg	missense variant	-	NC_000013.11:g.41605274A>C	gnomAD
rs755332977	p.Glu1629Gly	missense variant	-	NC_000013.11:g.41605268T>C	ExAC,gnomAD
rs1309528940	p.Glu1629Gln	missense variant	-	NC_000013.11:g.41605269C>G	TOPMed
NCI-TCGA novel	p.Met1632Ile	missense variant	-	NC_000013.11:g.41605258C>T	NCI-TCGA
rs1327463407	p.Met1632Ile	missense variant	-	NC_000013.11:g.41605258C>A	gnomAD
rs1391141015	p.Ser1633Asn	missense variant	-	NC_000013.11:g.41605256C>T	gnomAD
NCI-TCGA novel	p.Glu1634Lys	missense variant	-	NC_000013.11:g.41605254C>T	NCI-TCGA
rs1236449294	p.Glu1634Asp	missense variant	-	NC_000013.11:g.41605252T>G	TOPMed
rs780628817	p.Asp1636Asn	missense variant	-	NC_000013.11:g.41605248C>T	ExAC,TOPMed,gnomAD
rs780628817	p.Asp1636Asn	missense variant	-	NC_000013.11:g.41605248C>T	NCI-TCGA
NCI-TCGA novel	p.Ala1637Asp	missense variant	-	NC_000013.11:g.41605244G>T	NCI-TCGA
rs750635115	p.Ala1637Ser	missense variant	-	NC_000013.11:g.41605245C>A	ExAC,gnomAD
rs750635115	p.Ala1637Thr	missense variant	-	NC_000013.11:g.41605245C>T	ExAC,gnomAD
COSM4047643	p.Ala1637Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41605244G>A	NCI-TCGA Cosmic
rs767599471	p.Glu1641Lys	missense variant	-	NC_000013.11:g.41605233C>T	ExAC,gnomAD
rs752623040	p.Arg1642Gly	missense variant	-	NC_000013.11:g.41605230T>C	ExAC,TOPMed,gnomAD
rs765146030	p.Arg1642Lys	missense variant	-	NC_000013.11:g.41605229C>T	ExAC,gnomAD
rs573822383	p.Phe1643Leu	missense variant	-	NC_000013.11:g.41605227A>G	1000Genomes,ExAC,gnomAD
rs776380710	p.Gly1645Ala	missense variant	-	NC_000013.11:g.41605220C>G	ExAC,gnomAD
rs776380710	p.Gly1645Asp	missense variant	-	NC_000013.11:g.41605220C>T	ExAC,gnomAD
rs371195340	p.Arg1648Trp	missense variant	-	NC_000013.11:g.41605212G>A	ESP,ExAC,TOPMed,gnomAD
rs377664944	p.Arg1648Gln	missense variant	-	NC_000013.11:g.41605211C>T	ESP,ExAC,TOPMed,gnomAD
rs371195340	p.Arg1648Trp	missense variant	-	NC_000013.11:g.41605212G>A	NCI-TCGA,NCI-TCGA Cosmic
rs747621250	p.Arg1649Gln	missense variant	-	NC_000013.11:g.41605208C>T	NCI-TCGA
rs747621250	p.Arg1649Gln	missense variant	-	NC_000013.11:g.41605208C>T	ExAC,TOPMed,gnomAD
rs183412730	p.Arg1649Ter	stop gained	-	NC_000013.11:g.41605209G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs544413664	p.Gln1650Leu	missense variant	-	NC_000013.11:g.41605205T>A	NCI-TCGA
rs544413664	p.Gln1650Leu	missense variant	-	NC_000013.11:g.41605205T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1459816239	p.Val1651Gly	missense variant	-	NC_000013.11:g.41605202A>C	TOPMed
rs1378371383	p.His1652Tyr	missense variant	-	NC_000013.11:g.41605200G>A	gnomAD
rs769279344	p.Leu1654Val	missense variant	-	NC_000013.11:g.41605194G>C	ExAC,gnomAD
rs374044514	p.Arg1655Ter	stop gained	-	NC_000013.11:g.41605191G>A	ESP,ExAC,TOPMed,gnomAD
rs756581327	p.Arg1655Gln	missense variant	-	NC_000013.11:g.41605190C>T	ExAC,TOPMed,gnomAD
COSM6139197	p.Arg1655Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41605190C>A	NCI-TCGA Cosmic
rs746039683	p.Ile1656Leu	missense variant	-	NC_000013.11:g.41605188T>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu1658Pro	missense variant	-	NC_000013.11:g.41605181A>G	NCI-TCGA
rs1424007404	p.Asp1659Gly	missense variant	-	NC_000013.11:g.41605178T>C	TOPMed,gnomAD
rs1470469142	p.Asn1660Lys	missense variant	-	NC_000013.11:g.41605174A>C	gnomAD
rs1158126857	p.Asn1660Asp	missense variant	-	NC_000013.11:g.41605176T>C	gnomAD
rs751589386	p.Gln1662His	missense variant	-	NC_000013.11:g.41605168C>A	ExAC,gnomAD
rs757558909	p.Gln1662Ter	stop gained	-	NC_000013.11:g.41605170G>A	ExAC,gnomAD
rs1241165360	p.Lys1664Glu	missense variant	-	NC_000013.11:g.41590762T>C	gnomAD
rs1193204600	p.Lys1664Arg	missense variant	-	NC_000013.11:g.41590761T>C	gnomAD
rs770228498	p.Gly1665Ser	missense variant	-	NC_000013.11:g.41590759C>T	ExAC,TOPMed,gnomAD
rs770228498	p.Gly1665Arg	missense variant	-	NC_000013.11:g.41590759C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu1667Lys	missense variant	-	NC_000013.11:g.41590753C>T	NCI-TCGA
rs746206549	p.Glu1667Gly	missense variant	-	NC_000013.11:g.41590752T>C	ExAC,TOPMed,gnomAD
rs1377904432	p.Arg1668Ter	stop gained	-	NC_000013.11:g.41590750T>A	TOPMed
rs1382432899	p.Arg1668Ile	missense variant	-	NC_000013.11:g.41590749C>A	TOPMed
rs781669054	p.Trp1670Ter	stop gained	-	NC_000013.11:g.41590743C>T	ExAC,gnomAD
rs757392433	p.Arg1672Lys	missense variant	-	NC_000013.11:g.41590737C>T	ExAC,gnomAD
rs1341513042	p.His1673Arg	missense variant	-	NC_000013.11:g.41590734T>C	TOPMed,gnomAD
rs1291031563	p.His1673Tyr	missense variant	-	NC_000013.11:g.41590735G>A	gnomAD
rs1341513042	p.His1673Pro	missense variant	-	NC_000013.11:g.41590734T>G	TOPMed,gnomAD
rs777780749	p.Gln1674Ter	stop gained	-	NC_000013.11:g.41590732G>A	ExAC,gnomAD
rs1269850919	p.Gln1674Pro	missense variant	-	NC_000013.11:g.41590731T>G	gnomAD
rs375789767	p.Gly1677Arg	missense variant	-	NC_000013.11:g.41590723C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu1678Ter	stop gained	-	NC_000013.11:g.41590720C>A	NCI-TCGA
COSM947470	p.Leu1679Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41590717A>C	NCI-TCGA Cosmic
rs1350468991	p.Lys1683Asn	missense variant	-	NC_000013.11:g.41590703C>G	gnomAD
rs1408016082	p.Asp1686Tyr	missense variant	-	NC_000013.11:g.41590696C>A	gnomAD
rs1478625384	p.Glu1691Lys	missense variant	-	NC_000013.11:g.41590681C>T	TOPMed,gnomAD
rs767383104	p.Glu1691Val	missense variant	-	NC_000013.11:g.41590680T>A	ExAC,gnomAD
rs1255486515	p.Lys1692Glu	missense variant	-	NC_000013.11:g.41590678T>C	TOPMed
rs1198142930	p.Ile1694Val	missense variant	-	NC_000013.11:g.41590672T>C	gnomAD
rs761347448	p.Tyr1695Ser	missense variant	-	NC_000013.11:g.41590668T>G	ExAC,TOPMed,gnomAD
rs1477677326	p.Lys1696Arg	missense variant	-	NC_000013.11:g.41590665T>C	TOPMed
rs567899581	p.Arg1697Cys	missense variant	-	NC_000013.11:g.41590663G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1306156162	p.Arg1697His	missense variant	-	NC_000013.11:g.41590662C>T	TOPMed,gnomAD
rs762570477	p.Arg1698Trp	missense variant	-	NC_000013.11:g.41590660G>A	ExAC,gnomAD
rs368521925	p.Arg1698Gln	missense variant	-	NC_000013.11:g.41590659C>T	ESP,TOPMed,gnomAD
rs1281451004	p.Gly1699Val	missense variant	-	NC_000013.11:g.41590656C>A	gnomAD
rs775201061	p.Leu1701Arg	missense variant	-	NC_000013.11:g.41590650A>C	ExAC,gnomAD
NCI-TCGA novel	p.Pro1703Gln	missense variant	-	NC_000013.11:g.41590644G>T	NCI-TCGA
rs759913201	p.Leu1705Pro	missense variant	-	NC_000013.11:g.41587669A>G	ExAC,TOPMed,gnomAD
rs891198889	p.Leu1705Phe	missense variant	-	NC_000013.11:g.41587670G>A	TOPMed,gnomAD
rs891198889	p.Leu1705Ile	missense variant	-	NC_000013.11:g.41587670G>T	TOPMed,gnomAD
rs1466267661	p.Gln1710Lys	missense variant	-	NC_000013.11:g.41587655G>T	gnomAD
rs201548458	p.Arg1714Cys	missense variant	-	NC_000013.11:g.41587643G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs773624362	p.Arg1714His	missense variant	-	NC_000013.11:g.41587642C>T	ExAC,TOPMed,gnomAD
rs201548458	p.Arg1714Ser	missense variant	-	NC_000013.11:g.41587643G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs367818265	p.Arg1716Cys	missense variant	-	NC_000013.11:g.41587637G>A	NCI-TCGA,NCI-TCGA Cosmic
rs748405634	p.Arg1716His	missense variant	-	NC_000013.11:g.41587636C>T	ExAC,TOPMed,gnomAD
rs748405634	p.Arg1716Leu	missense variant	-	NC_000013.11:g.41587636C>A	ExAC,TOPMed,gnomAD
rs367818265	p.Arg1716Ser	missense variant	-	NC_000013.11:g.41587637G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs367818265	p.Arg1716Cys	missense variant	-	NC_000013.11:g.41587637G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1054216296	p.Asp1720Glu	missense variant	-	NC_000013.11:g.41587623A>T	TOPMed,gnomAD
rs768800294	p.Asp1720Asn	missense variant	-	NC_000013.11:g.41587625C>T	ExAC,gnomAD
rs938205585	p.Val1721Met	missense variant	-	NC_000013.11:g.41587622C>T	TOPMed,gnomAD
rs898340545	p.Gly1723Ser	missense variant	-	NC_000013.11:g.41587616C>T	TOPMed
rs745728716	p.Gly1723Asp	missense variant	-	NC_000013.11:g.41587615C>T	NCI-TCGA,NCI-TCGA Cosmic
rs745728716	p.Gly1723Asp	missense variant	-	NC_000013.11:g.41587615C>T	ExAC,gnomAD
rs527636291	p.Ser1724Gly	missense variant	-	NC_000013.11:g.41587613T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1352818312	p.Met1725Thr	missense variant	-	NC_000013.11:g.41587609A>G	gnomAD
NCI-TCGA novel	p.Tyr1726Asn	missense variant	-	NC_000013.11:g.41587607A>T	NCI-TCGA
rs374212684	p.Tyr1726Ser	missense variant	-	NC_000013.11:g.41587606T>G	ESP,TOPMed
rs746799971	p.Tyr1726His	missense variant	-	NC_000013.11:g.41587607A>G	ExAC,TOPMed,gnomAD
rs758101871	p.Arg1727His	missense variant	-	NC_000013.11:g.41587603C>T	ExAC,gnomAD
rs371311733	p.Arg1727Cys	missense variant	-	NC_000013.11:g.41587604G>A	ESP,ExAC,TOPMed,gnomAD
COSM696561	p.Arg1727Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41587603C>A	NCI-TCGA Cosmic
rs1396237583	p.Arg1730Ser	missense variant	-	NC_000013.11:g.41587593C>A	gnomAD
rs374449216	p.Arg1730Gly	missense variant	-	NC_000013.11:g.41587595T>C	ESP,ExAC,TOPMed,gnomAD
rs764610832	p.Arg1734Trp	missense variant	-	NC_000013.11:g.41587583G>A	ExAC,TOPMed,gnomAD
rs754519395	p.Arg1734Gln	missense variant	-	NC_000013.11:g.41587582C>T	ExAC,TOPMed,gnomAD
rs371087115	p.Arg1737Cys	missense variant	-	NC_000013.11:g.41587574G>A	ESP,ExAC,TOPMed,gnomAD
rs773532229	p.Arg1737Leu	missense variant	-	NC_000013.11:g.41587573C>A	ExAC,TOPMed,gnomAD
rs773532229	p.Arg1737His	missense variant	-	NC_000013.11:g.41587573C>T	ExAC,TOPMed,gnomAD
rs372945812	p.Met1739Val	missense variant	-	NC_000013.11:g.41587568T>C	ESP,ExAC,TOPMed,gnomAD
rs761972082	p.Glu1740Asp	missense variant	-	NC_000013.11:g.41587563C>A	ExAC,gnomAD
COSM3468923	p.Glu1740Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41587565C>T	NCI-TCGA Cosmic
rs1187360432	p.Glu1740Gly	missense variant	-	NC_000013.11:g.41587564T>C	gnomAD
rs1258545558	p.Ala1741Thr	missense variant	-	NC_000013.11:g.41587562C>T	gnomAD
rs774639967	p.Val1742Ala	missense variant	-	NC_000013.11:g.41587558A>G	ExAC,TOPMed
rs768565282	p.Cys1743Phe	missense variant	-	NC_000013.11:g.41587555C>A	ExAC,gnomAD
rs952585910	p.Met1744Thr	missense variant	-	NC_000013.11:g.41587552A>G	TOPMed
rs146681420	p.Met1744Ile	missense variant	-	NC_000013.11:g.41587551C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs770961955	p.Met1746Ile	missense variant	-	NC_000013.11:g.41587545C>T	ExAC,TOPMed,gnomAD
rs770961955	p.Met1746Ile	missense variant	-	NC_000013.11:g.41587545C>T	NCI-TCGA,NCI-TCGA Cosmic
rs746993935	p.Glu1747Lys	missense variant	-	NC_000013.11:g.41587544C>T	ExAC
rs777663948	p.Ala1748Thr	missense variant	-	NC_000013.11:g.41587541C>T	ExAC,gnomAD
COSM3468921	p.Ala1748Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41587540G>A	NCI-TCGA Cosmic
rs747733745	p.Phe1749Leu	missense variant	-	NC_000013.11:g.41587536G>C	ExAC,TOPMed,gnomAD
rs374983635	p.Glu1750Lys	missense variant	-	NC_000013.11:g.41587535C>T	ESP,ExAC,TOPMed,gnomAD
rs374983635	p.Glu1750Gln	missense variant	-	NC_000013.11:g.41587535C>G	ESP,ExAC,TOPMed,gnomAD
rs1381126106	p.Asn1751Ser	missense variant	-	NC_000013.11:g.41587531T>C	gnomAD
rs750476980	p.Tyr1752Phe	missense variant	-	NC_000013.11:g.41587528T>A	ExAC,TOPMed,gnomAD
rs750476980	p.Tyr1752Cys	missense variant	-	NC_000013.11:g.41587528T>C	ExAC,TOPMed,gnomAD
rs765842905	p.Glu1753Asp	missense variant	-	NC_000013.11:g.41587524C>A	ExAC,TOPMed
rs765842905	p.Glu1753Asp	missense variant	-	NC_000013.11:g.41587524C>G	ExAC,TOPMed
rs1402389634	p.Glu1754Lys	missense variant	-	NC_000013.11:g.41587523C>T	gnomAD
rs756587272	p.Phe1756Cys	missense variant	-	NC_000013.11:g.41587516A>C	ExAC,gnomAD
rs914757297	p.Gln1757Ter	stop gained	-	NC_000013.11:g.41587514G>A	TOPMed
rs1458753053	p.Gln1757His	missense variant	-	NC_000013.11:g.41587512C>G	TOPMed,gnomAD
rs1055714247	p.Tyr1758Cys	missense variant	-	NC_000013.11:g.41575837T>C	gnomAD
rs778640647	p.Val1761Ile	missense variant	-	NC_000013.11:g.41575829C>T	ExAC,TOPMed,gnomAD
rs778640647	p.Val1761Ile	missense variant	-	NC_000013.11:g.41575829C>T	NCI-TCGA
rs1197781505	p.Gly1762Ala	missense variant	-	NC_000013.11:g.41575825C>G	gnomAD
rs1457886223	p.Ser1764Pro	missense variant	-	NC_000013.11:g.41575820A>G	TOPMed,gnomAD
rs1259614080	p.Gly1765Arg	missense variant	-	NC_000013.11:g.41575817C>T	gnomAD
rs201909382	p.Asp1766Ala	missense variant	-	NC_000013.11:g.41575813T>G	ESP,ExAC,TOPMed,gnomAD
COSM4047642	p.Asp1766His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41575814C>G	NCI-TCGA Cosmic
rs369845178	p.Asp1766Glu	missense variant	-	NC_000013.11:g.41575812A>C	ESP,ExAC,gnomAD
rs779486786	p.Tyr1768Ter	stop gained	-	NC_000013.11:g.41575806G>T	ExAC,gnomAD
rs755650390	p.Gly1771Asp	missense variant	-	NC_000013.11:g.41575798C>T	ExAC,TOPMed,gnomAD
rs1234586583	p.Gly1771Ser	missense variant	-	NC_000013.11:g.41575799C>T	gnomAD
rs563747643	p.Val1773Phe	missense variant	-	NC_000013.11:g.41575793C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs563747643	p.Val1773Ile	missense variant	-	NC_000013.11:g.41575793C>T	1000Genomes,ExAC,TOPMed,gnomAD
COSM4047641	p.Val1773Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41575792A>G	NCI-TCGA Cosmic
rs764414849	p.Pro1774Arg	missense variant	-	NC_000013.11:g.41575789G>C	ExAC,gnomAD
rs199583018	p.Met1775Val	missense variant	-	NC_000013.11:g.41575787T>C	ExAC,TOPMed,gnomAD
COSM432399	p.Met1775Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41575785C>T	NCI-TCGA Cosmic
rs1288476316	p.Asn1776Tyr	missense variant	-	NC_000013.11:g.41575784T>A	TOPMed
rs765343533	p.Pro1779Leu	missense variant	-	NC_000013.11:g.41575774G>A	ExAC,gnomAD
rs752894411	p.Pro1779Ser	missense variant	-	NC_000013.11:g.41575775G>A	ExAC,gnomAD
rs1173297390	p.Asp1781Ala	missense variant	-	NC_000013.11:g.41575768T>G	TOPMed,gnomAD
COSM4047640	p.Asn1782Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41575766T>C	NCI-TCGA Cosmic
rs201654359	p.Gln1784Lys	missense variant	-	NC_000013.11:g.41575760G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs200850191	p.Gln1784Pro	missense variant	-	NC_000013.11:g.41575759T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs200850191	p.Gln1784Arg	missense variant	-	NC_000013.11:g.41575759T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1440110096	p.Arg1785Gly	missense variant	-	NC_000013.11:g.41575757T>C	gnomAD
rs1201359539	p.Glu1787Lys	missense variant	-	NC_000013.11:g.41575751C>T	gnomAD
NCI-TCGA novel	p.Glu1787Asp	missense variant	-	NC_000013.11:g.41575749T>G	NCI-TCGA
rs1356800766	p.Glu1787Gly	missense variant	-	NC_000013.11:g.41575750T>C	TOPMed
NCI-TCGA novel	p.Leu1789Met	missense variant	-	NC_000013.11:g.41575745G>T	NCI-TCGA
rs1162363871	p.Thr1791Arg	missense variant	-	NC_000013.11:g.41570705G>C	gnomAD
rs1404575370	p.Met1792Val	missense variant	-	NC_000013.11:g.41570703T>C	gnomAD
rs980610740	p.Met1792Thr	missense variant	-	NC_000013.11:g.41570702A>G	TOPMed,gnomAD
rs770380432	p.Met1792Ile	missense variant	-	NC_000013.11:g.41570701C>T	ExAC,gnomAD
rs1254976147	p.His1793Tyr	missense variant	-	NC_000013.11:g.41570700G>A	TOPMed
rs369708747	p.His1793Arg	missense variant	-	NC_000013.11:g.41570699T>C	ESP,ExAC,TOPMed,gnomAD
rs778158594	p.Ala1794Asp	missense variant	-	NC_000013.11:g.41570696G>T	ExAC,gnomAD
NCI-TCGA novel	p.His1795ProPheSerTerUnk	frameshift	-	NC_000013.11:g.41570693T>-	NCI-TCGA
rs1172215082	p.His1795Asn	missense variant	-	NC_000013.11:g.41570694G>T	TOPMed
NCI-TCGA novel	p.Ser1796Tyr	missense variant	-	NC_000013.11:g.41570690G>T	NCI-TCGA
rs755224881	p.Gln1797His	missense variant	-	NC_000013.11:g.41570686C>G	ExAC,gnomAD
rs1265997764	p.Gln1797Pro	missense variant	-	NC_000013.11:g.41570687T>G	gnomAD
rs1323285580	p.Phe1798Cys	missense variant	-	NC_000013.11:g.41570684A>C	TOPMed,gnomAD
rs754134493	p.Phe1798Ile	missense variant	-	NC_000013.11:g.41570685A>T	ExAC,TOPMed,gnomAD
rs754134493	p.Phe1798Leu	missense variant	-	NC_000013.11:g.41570685A>G	ExAC,TOPMed,gnomAD
rs1230225110	p.Cys1799Ter	stop gained	-	NC_000013.11:g.41570680G>T	gnomAD
rs766440974	p.Cys1799Arg	missense variant	-	NC_000013.11:g.41570682A>G	ExAC,gnomAD
rs1177032146	p.Ser1801Arg	missense variant	-	NC_000013.11:g.41570674A>T	TOPMed
rs761358108	p.Thr1805Lys	missense variant	-	NC_000013.11:g.41570663G>T	ExAC,TOPMed,gnomAD
rs761358108	p.Thr1805Met	missense variant	-	NC_000013.11:g.41570663G>A	ExAC,TOPMed,gnomAD
COSM4824208	p.Glu1807Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41570658C>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly1808AlaPheSerTerUnkUnk	frameshift	-	NC_000013.11:g.41570639_41570654ATGGCATGTTCTGTCC>-	NCI-TCGA
rs762988663	p.Gly1808Glu	missense variant	-	NC_000013.11:g.41570654C>T	ExAC,gnomAD
rs533635699	p.Thr1809Ile	missense variant	-	NC_000013.11:g.41570651G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs202013257	p.Thr1809Ala	missense variant	-	NC_000013.11:g.41570652T>C	1000Genomes,ESP,TOPMed
NCI-TCGA novel	p.Glu1810Asp	missense variant	-	NC_000013.11:g.41570647T>G	NCI-TCGA
rs759153232	p.His1811Leu	missense variant	-	NC_000013.11:g.41570645T>A	ExAC,gnomAD
rs200520340	p.His1811Asn	missense variant	-	NC_000013.11:g.41570646G>T	1000Genomes,ExAC,gnomAD
rs200520340	p.His1811Tyr	missense variant	-	NC_000013.11:g.41570646G>A	1000Genomes,ExAC,gnomAD
rs759153232	p.His1811Arg	missense variant	-	NC_000013.11:g.41570645T>C	ExAC,gnomAD
rs1325350192	p.Ala1812Asp	missense variant	-	NC_000013.11:g.41570642G>T	gnomAD
rs776273871	p.Ile1813Leu	missense variant	-	NC_000013.11:g.41570640T>G	ExAC,gnomAD
rs1422482429	p.Glu1815Lys	missense variant	-	NC_000013.11:g.41570634C>T	gnomAD
rs371767645	p.Ile1816Thr	missense variant	-	NC_000013.11:g.41570630A>G	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Glu1819Gly	missense variant	-	NC_000013.11:g.41570621T>C	NCI-TCGA
rs541387551	p.Glu1819Lys	missense variant	-	NC_000013.11:g.41570622C>T	1000Genomes,ExAC,gnomAD
rs772843463	p.Glu1820Asp	missense variant	-	NC_000013.11:g.41570617T>G	ExAC,gnomAD
rs527790022	p.Asp1822Asn	missense variant	-	NC_000013.11:g.41570613C>T	1000Genomes,ExAC,gnomAD
rs367898232	p.Asp1822Glu	missense variant	-	NC_000013.11:g.41570611A>C	ESP,ExAC,TOPMed,gnomAD
rs749453959	p.Ile1827Val	missense variant	-	NC_000013.11:g.41570598T>C	ExAC,gnomAD
rs749453959	p.Ile1827Leu	missense variant	-	NC_000013.11:g.41570598T>G	ExAC,gnomAD
rs371464239	p.Asn1833Thr	missense variant	-	NC_000013.11:g.41570579T>G	ESP,ExAC,TOPMed,gnomAD
COSM4047638	p.Asn1833His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41570580T>G	NCI-TCGA Cosmic
rs192105242	p.Leu1834Arg	missense variant	-	NC_000013.11:g.41570576A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs201130705	p.Arg1836Ter	stop gained	-	NC_000013.11:g.41570571G>A	1000Genomes,ExAC,gnomAD
rs752666461	p.Arg1836Gln	missense variant	-	NC_000013.11:g.41570570C>T	ExAC,TOPMed,gnomAD
rs752666461	p.Arg1836Pro	missense variant	-	NC_000013.11:g.41570570C>G	ExAC,TOPMed,gnomAD
rs764948828	p.Tyr1837His	missense variant	-	NC_000013.11:g.41570568A>G	ExAC,gnomAD
rs556721352	p.Ile1839Leu	missense variant	-	NC_000013.11:g.41570562T>G	1000Genomes,ExAC,gnomAD
rs1445028598	p.Ile1839Thr	missense variant	-	NC_000013.11:g.41570561A>G	gnomAD
rs376274377	p.His1840Pro	missense variant	-	NC_000013.11:g.41570558T>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro1841Leu	missense variant	-	NC_000013.11:g.41570555G>A	NCI-TCGA
rs1431280057	p.AlaLysPhe1842AlaLysTerValUnk	stop gained	-	NC_000013.11:g.41570551_41570552insCTTA	TOPMed
rs1283259439	p.Lys1843Met	missense variant	-	NC_000013.11:g.41570549T>A	gnomAD
rs760412994	p.Phe1844Leu	missense variant	-	NC_000013.11:g.41570545A>C	ExAC,gnomAD
rs1200133751	p.Phe1844Cys	missense variant	-	NC_000013.11:g.41570546A>C	TOPMed
rs1426500935	p.Phe1844Val	missense variant	-	NC_000013.11:g.41570547A>C	gnomAD
rs764821064	p.Gln1846Lys	missense variant	-	NC_000013.11:g.41570541G>T	TOPMed,gnomAD
rs764821064	p.Gln1846Ter	stop gained	-	NC_000013.11:g.41570541G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Gln1846His	missense variant	-	NC_000013.11:g.41570539T>G	NCI-TCGA
rs764821064	p.Gln1846Glu	missense variant	-	NC_000013.11:g.41570541G>C	TOPMed,gnomAD
rs772570915	p.Ile1847Phe	missense variant	-	NC_000013.11:g.41570538T>A	ExAC,gnomAD
rs775002502	p.Asp1851Gly	missense variant	-	NC_000013.11:g.41570525T>C	ExAC,gnomAD
rs1211395779	p.Pro1852Leu	missense variant	-	NC_000013.11:g.41570522G>A	gnomAD
rs769083020	p.Val1854Ile	missense variant	-	NC_000013.11:g.41570517C>T	ExAC,gnomAD
rs1455588967	p.Ala1856Val	missense variant	-	NC_000013.11:g.41570510G>A	TOPMed
rs769886868	p.Ala1858Val	missense variant	-	NC_000013.11:g.41570504G>A	ExAC,gnomAD
rs780509195	p.Ala1858Ser	missense variant	-	NC_000013.11:g.41570505C>A	ExAC,gnomAD
NCI-TCGA novel	p.Phe1860Cys	missense variant	-	NC_000013.11:g.41570498A>C	NCI-TCGA
NCI-TCGA novel	p.Ser1863Tyr	missense variant	-	NC_000013.11:g.41570489G>T	NCI-TCGA
rs757338212	p.Ser1863Cys	missense variant	-	NC_000013.11:g.41570489G>C	ExAC,gnomAD
rs371191777	p.Gly1865Asp	missense variant	-	NC_000013.11:g.41570483C>T	ESP,ExAC,TOPMed,gnomAD
rs371191777	p.Gly1865Ala	missense variant	-	NC_000013.11:g.41570483C>G	ESP,ExAC,TOPMed,gnomAD
rs376787899	p.Asp1866Asn	missense variant	-	NC_000013.11:g.41570481C>T	ESP,ExAC,gnomAD
rs771113852	p.Arg1870Ser	missense variant	-	NC_000013.11:g.41568305C>G	ExAC,TOPMed,gnomAD
rs915123929	p.Arg1870Lys	missense variant	-	NC_000013.11:g.41570468C>T	TOPMed,gnomAD
rs754978387	p.Arg1870Gly	missense variant	-	NC_000013.11:g.41570469T>C	ExAC,gnomAD
rs201699330	p.Leu1871Arg	missense variant	-	NC_000013.11:g.41568303A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs892927004	p.Gln1872Arg	missense variant	-	NC_000013.11:g.41568300T>C	TOPMed
rs773225203	p.Thr1874Ile	missense variant	-	NC_000013.11:g.41568294G>A	ExAC,gnomAD
rs773225203	p.Thr1874Ser	missense variant	-	NC_000013.11:g.41568294G>C	ExAC,gnomAD
rs368832275	p.Pro1876Ser	missense variant	-	NC_000013.11:g.41568289G>A	gnomAD
rs1372327429	p.Ala1877Gly	missense variant	-	NC_000013.11:g.41568285G>C	TOPMed
rs772166629	p.Gly1878Val	missense variant	-	NC_000013.11:g.41568282C>A	ExAC,gnomAD
rs1197419308	p.Gly1878Cys	missense variant	-	NC_000013.11:g.41568283C>A	gnomAD
rs576123636	p.Arg1879Trp	missense variant	-	NC_000013.11:g.41568280G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs372826442	p.Arg1879Gln	missense variant	-	NC_000013.11:g.41568279C>T	1000Genomes,ESP,ExAC,gnomAD
rs576123636	p.Arg1879Gly	missense variant	-	NC_000013.11:g.41568280G>C	1000Genomes,ExAC,TOPMed,gnomAD
COSM6074662	p.Arg1879Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41568279C>A	NCI-TCGA Cosmic
rs554992110	p.Phe1881Ser	missense variant	-	NC_000013.11:g.41568273A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs369063501	p.Val1882Ile	missense variant	-	NC_000013.11:g.41568271C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala1883Thr	missense variant	-	NC_000013.11:g.41568268C>T	NCI-TCGA
NCI-TCGA novel	p.Ala1883Val	missense variant	-	NC_000013.11:g.41568267G>A	NCI-TCGA
rs757943381	p.Met1884Thr	missense variant	-	NC_000013.11:g.41568264A>G	ExAC,TOPMed,gnomAD
rs1459298573	p.Met1884Val	missense variant	-	NC_000013.11:g.41568265T>C	TOPMed
COSM1366910	p.Met1884Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41568263C>T	NCI-TCGA Cosmic
rs1199273846	p.Asp1888Gly	missense variant	-	NC_000013.11:g.41568252T>C	gnomAD
rs1232736297	p.Ile1889Ser	missense variant	-	NC_000013.11:g.41568249A>C	TOPMed
COSM4047637	p.Ile1889Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41568249A>G	NCI-TCGA Cosmic
rs1455449798	p.Gln1891Glu	missense variant	-	NC_000013.11:g.41568244G>C	gnomAD
rs1236163278	p.Leu1893Ter	stop gained	-	NC_000013.11:g.41568237A>C	gnomAD
rs201705320	p.Phe1897Leu	missense variant	-	NC_000013.11:g.41568226A>G	ESP,ExAC,TOPMed,gnomAD
rs201705320	p.Phe1897Val	missense variant	-	NC_000013.11:g.41568226A>C	ESP,ExAC,TOPMed,gnomAD
rs973769509	p.Thr1898Ile	missense variant	-	NC_000013.11:g.41568222G>A	TOPMed,gnomAD
rs1274497752	p.Ser1899Pro	missense variant	-	NC_000013.11:g.41568220A>G	gnomAD
NCI-TCGA novel	p.Thr1900Ile	missense variant	-	NC_000013.11:g.41568216G>A	NCI-TCGA
rs1198290990	p.Met1901Val	missense variant	-	NC_000013.11:g.41568214T>C	gnomAD
rs1255965746	p.Ser1903Pro	missense variant	-	NC_000013.11:g.41568208A>G	gnomAD
rs373531885	p.Ser1903Leu	missense variant	-	NC_000013.11:g.41568207G>A	ESP,TOPMed,gnomAD
rs1307548486	p.Val1905Ile	missense variant	-	NC_000013.11:g.41568202C>T	gnomAD
rs752287123	p.Ter1906LeuUnk	stop lost	-	NC_000013.11:g.41568199dup	ExAC,TOPMed,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0004352	Autistic Disorder	group	CTD_human
C0005586	Bipolar Disorder	disease	BEFREE
C0149931	Migraine Disorders	group	BEFREE
C1263846	Attention deficit hyperactivity disorder	disease	BEFREE
C1839839	MAJOR AFFECTIVE DISORDER 2	disease	BEFREE
C1852197	MAJOR AFFECTIVE DISORDER 1	disease	BEFREE
C1970943	MAJOR AFFECTIVE DISORDER 4	disease	BEFREE
C1970945	MAJOR AFFECTIVE DISORDER 6	disease	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005515	protein binding	IPI
GO:0005524	ATP binding	IEA
GO:0016887	ATPase activity	ISS

GO:Biological Process

GO ID	GO Term	Evidence

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005739	mitochondrion	ISS
GO:0005739	mitochondrion	IDA
GO:0005777	peroxisome	IEA

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of VWA8 mRNA	27188386
C496492	abrine	abrine results in decreased expression of VWA8 mRNA	31054353
D000082	Acetaminophen	Acetaminophen results in decreased expression of VWA8 mRNA	21420995
D001151	Arsenic	Arsenic affects the methylation of VWA8 gene	25304211
D017638	Asbestos, Crocidolite	Asbestos, Crocidolite results in decreased methylation of VWA8 gene	29523930
D017632	Asbestos, Serpentine	Asbestos, Serpentine results in increased methylation of VWA8 gene	29523930
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of VWA8 mRNA	21632981; 26238291;
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of VWA8 mRNA	23735875
C006703	benzo(b)fluoranthene	benzo(b)fluoranthene results in increased expression of VWA8 mRNA	26377693
C038328	BEP protocol	BEP protocol results in decreased expression of VWA8 mRNA	18987330
C006780	bisphenol A	bisphenol A affects the expression of VWA8 mRNA	25181051
D002065	Buspirone	Buspirone results in increased expression of VWA8 mRNA	24136188
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in decreased expression of VWA8 mRNA	31150632
D002251	Carbon Tetrachloride	schizandrin B inhibits the reaction [Carbon Tetrachloride results in decreased expression of VWA8 mRNA]	31150632
C074702	chromium hexavalent ion	chromium hexavalent ion affects the expression of VWA8 mRNA	28472532
D002994	Clofibrate	Clofibrate results in increased expression of VWA8 mRNA	23811191; 25270620;
C516138	dorsomorphin	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of VWA8 mRNA	27188386
D004317	Doxorubicin	Doxorubicin results in decreased expression of VWA8 mRNA	29803840
C118739	entinostat	entinostat results in increased expression of VWA8 mRNA	26272509
C118739	entinostat	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of VWA8 mRNA	27188386
D000431	Ethanol	Ethanol results in increased expression of VWA8 mRNA	30319688
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of VWA8 mRNA	23129252
D018120	Finasteride	Finasteride results in increased expression of VWA8 mRNA	24136188
D005485	Flutamide	Flutamide results in decreased expression of VWA8 mRNA	24793618
D005897	Glafenine	Glafenine results in decreased expression of VWA8 mRNA	24136188
D000077339	Leflunomide	Leflunomide results in increased expression of VWA8 mRNA	24136188
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in increased expression of VWA8 mRNA	25620056
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in decreased expression of VWA8 mRNA	25554681
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in increased expression of VWA8 mRNA	25620056
C051752	nefazodone	nefazodone results in increased expression of VWA8 mRNA	24136188
C012655	nimesulide	nimesulide results in increased expression of VWA8 mRNA	24136188
C471071	perfluorohexanesulfonic acid	perfluorohexanesulfonic acid results in increased expression of VWA8 mRNA	28558994
C584865	perfluorononanoic acid	perfluorononanoic acid results in increased expression of VWA8 mRNA	28558994
C076994	perfluorooctane sulfonic acid	perfluorooctane sulfonic acid results in increased expression of VWA8 mRNA	28558994
C023036	perfluorooctanoic acid	perfluorooctanoic acid results in increased expression of VWA8 mRNA	28558994; 30711707;
C023036	perfluorooctanoic acid	perfluorooctanoic acid results in increased expression of VWA8 mRNA	28511854
C006253	pirinixic acid	pirinixic acid results in increased expression of VWA8 mRNA	23811191; 25270620;
C027373	potassium chromate(VI)	potassium chromate(VI) results in decreased expression of VWA8 mRNA	22714537
D011374	Progesterone	Progesterone results in increased expression of VWA8 mRNA	23012394
C012526	quercitrin	quercitrin results in decreased expression of VWA8 mRNA	25193878
D012402	Rotenone	Rotenone results in increased expression of VWA8 mRNA	28374803
C015499	schizandrin B	schizandrin B inhibits the reaction [Carbon Tetrachloride results in decreased expression of VWA8 mRNA]	31150632
C009277	sodium arsenate	sodium arsenate results in increased expression of VWA8 mRNA	30953684
C016104	sodium bichromate	sodium bichromate affects the expression of VWA8 mRNA	22110744
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of VWA8 mRNA	21215274
D014260	Triclosan	Triclosan results in increased expression of VWA8 protein	30219713
D000077288	Troglitazone	Troglitazone results in decreased expression of VWA8 mRNA	28973697
C406224	valdecoxib	valdecoxib results in increased expression of VWA8 mRNA	24136188
D014635	Valproic Acid	Valproic Acid affects the expression of VWA8 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in increased expression of VWA8 mRNA	23179753; 28001369;
D014635	Valproic Acid	Valproic Acid results in increased methylation of VWA8 gene	28853863; 29201983;

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0025	Alternative splicing
KW-0067	ATP-binding
KW-0325	Glycoprotein
KW-0496	Mitochondrion
KW-0547	Nucleotide-binding
KW-0576	Peroxisome
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0809	Transit peptide

Interpro

InterPro ID	InterPro Term
IPR003593	AAA+_ATPase
IPR011704	ATPase_dyneun-rel_AAA
IPR027417	P-loop_NTPase
IPR039891	VWA8
IPR002035	VWF_A
IPR036465	vWFA_dom_sf

PROSITE

PROSITE ID	PROSITE Term
PS50234	VWFA

Pfam

Pfam ID	Pfam Term
PF07728	AAA_5

Gene: VWA8

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