CleftGeneDB-Search

Gene: PTPRF

Basic information

Tag	Content
Uniprot ID	P10586; D3DPX6; D3DPX7; Q5T021; Q5T022; Q5W9G2; Q86WS0;
Entrez ID	5792
Genbank protein ID	EAX07087.1; BAD66835.1; EAX07089.1; AAH48768.1; CAA68754.1; EAX07086.1; EAX07088.1;
Genbank nucleotide ID	NM_002840.4; NM_130440.3;
Ensembl protein ID	ENSP00000398822; ENSP00000353030;
Ensembl nucleotide ID	ENSG00000142949
Gene name	Receptor-type tyrosine-protein phosphatase F
Gene symbol	PTPRF
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Possible cell adhesion receptor. It possesses an intrinsic protein tyrosine phosphatase activity (PTPase) and dephosphorylates EPHA2 regulating its activity.
Sequence	MAPEPAPGRT MVPLVPALVM LGLVAGAHGD SKPVFIKVPE DQTGLSGGVA SFVCQATGEP 60 KPRITWMKKG KKVSSQRFEV IEFDDGAGSV LRIQPLRVQR DEAIYECTAT NSLGEINTSA 120 KLSVLEEEQL PPGFPSIDMG PQLKVVEKAR TATMLCAAGG NPDPEISWFK DFLPVDPATS 180 NGRIKQLRSG ALQIESSEES DQGKYECVAT NSAGTRYSAP ANLYVRVRRV APRFSIPPSS 240 QEVMPGGSVN LTCVAVGAPM PYVKWMMGAE ELTKEDEMPV GRNVLELSNV VRSANYTCVA 300 ISSLGMIEAT AQVTVKALPK PPIDLVVTET TATSVTLTWD SGNSEPVTYY GIQYRAAGTE 360 GPFQEVDGVA TTRYSIGGLS PFSEYAFRVL AVNSIGRGPP SEAVRARTGE QAPSSPPRRV 420 QARMLSASTM LVQWEPPEEP NGLVRGYRVY YTPDSRRPPN AWHKHNTDAG LLTTVGSLLP 480 GITYSLRVLA FTAVGDGPPS PTIQVKTQQG VPAQPADFQA EVESDTRIQL SWLLPPQERI 540 IMYELVYWAA EDEDQQHKVT FDPTSSYTLE DLKPDTLYRF QLAARSDMGV GVFTPTIEAR 600 TAQSTPSAPP QKVMCVSMGS TTVRVSWVPP PADSRNGVIT QYSVAYEAVD GEDRGRHVVD 660 GISREHSSWD LVGLEKWTEY RVWVRAHTDV GPGPESSPVL VRTDEDVPSG PPRKVEVEPL 720 NSTAVHVYWK LPVPSKQHGQ IRGYQVTYVR LENGEPRGLP IIQDVMLAEA QWRPEESEDY 780 ETTISGLTPE TTYSVTVAAY TTKGDGARSK PKIVTTTGAV PGRPTMMIST TAMNTALLQW 840 HPPKELPGEL LGYRLQYCRA DEARPNTIDF GKDDQHFTVT GLHKGTTYIF RLAAKNRAGL 900 GEEFEKEIRT PEDLPSGFPQ NLHVTGLTTS TTELAWDPPV LAERNGRIIS YTVVFRDINS 960 QQELQNITTD TRFTLTGLKP DTTYDIKVRA WTSKGSGPLS PSIQSRTMPV EQVFAKNFRV 1020 AAAMKTSVLL SWEVPDSYKS AVPFKILYNG QSVEVDGHSM RKLIADLQPN TEYSFVLMNR 1080 GSSAGGLQHL VSIRTAPDLL PHKPLPASAY IEDGRFDLSM PHVQDPSLVR WFYIVVVPID 1140 RVGGSMLTPR WSTPEELELD ELLEAIEQGG EEQRRRRRQA ERLKPYVAAQ LDVLPETFTL 1200 GDKKNYRGFY NRPLSPDLSY QCFVLASLKE PMDQKRYASS PYSDEIVVQV TPAQQQEEPE 1260 MLWVTGPVLA VILIILIVIA ILLFKRKRTH SPSSKDEQSI GLKDSLLAHS SDPVEMRRLN 1320 YQTPGMRDHP PIPITDLADN IERLKANDGL KFSQEYESID PGQQFTWENS NLEVNKPKNR 1380 YANVIAYDHS RVILTSIDGV PGSDYINANY IDGYRKQNAY IATQGPLPET MGDFWRMVWE 1440 QRTATVVMMT RLEEKSRVKC DQYWPARGTE TCGLIQVTLL DTVELATYTV RTFALHKSGS 1500 SEKRELRQFQ FMAWPDHGVP EYPTPILAFL RRVKACNPLD AGPMVVHCSA GVGRTGCFIV 1560 IDAMLERMKH EKTVDIYGHV TCMRSQRNYM VQTEDQYVFI HEALLEAATC GHTEVPARNL 1620 YAHIQKLGQV PPGESVTAME LEFKLLASSK AHTSRFISAN LPCNKFKNRL VNIMPYELTR 1680 VCLQPIRGVE GSDYINASFL DGYRQQKAYI ATQGPLAEST EDFWRMLWEH NSTIIVMLTK 1740 LREMGREKCH QYWPAERSAR YQYFVVDPMA EYNMPQYILR EFKVTDARDG QSRTIRQFQF 1800 TDWPEQGVPK TGEGFIDFIG QVHKTKEQFG QDGPITVHCS AGVGRTGVFI TLSIVLERMR 1860 YEGVVDMFQT VKTLRTQRPA MVQTEDQYQL CYRAALEYLG SFDHYAT 1907

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

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

PDB ID
1LAR
2DJU
2DN7
2EDX
2EDY
2YD5
2YD8
4N5U
6KR4
1LAR
2DJU
2DN7
2EDY
2YD8
4N5U

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	PTPRF	512072	A7MBJ4		Bos taurus	Prediction	More>>
1:1 ortholog	PTPRF		A0A452EN77		Capra hircus	Prediction	More>>
1:1 ortholog	PTPRF	5792	P10586		Homo sapiens	Prediction	More>>
1:1 ortholog	Ptprf	19268	A2A8L5	CPO	Mus musculus	Publication	More>>
1:1 ortholog	PTPRF	456828	K7D8P0		Pan troglodytes	Prediction	More>>
1:1 ortholog			A0A480JVC3		Sus scrofa	Prediction	More>>
1:1 ortholog	Ptprf		A0A0G2JT62		Rattus norvegicus	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1284169835	p.Ala2Thr	missense variant	-	NC_000001.11:g.43545079G>A	gnomAD
rs1445843642	p.Pro3Leu	missense variant	-	NC_000001.11:g.43545083C>T	gnomAD
rs1212651831	p.Glu4Lys	missense variant	-	NC_000001.11:g.43545085G>A	gnomAD
rs766928002	p.Ala6Val	missense variant	-	NC_000001.11:g.43545092C>T	ExAC,gnomAD
rs766928002	p.Ala6Asp	missense variant	-	NC_000001.11:g.43545092C>A	ExAC,gnomAD
rs1379181132	p.Arg9Trp	missense variant	-	NC_000001.11:g.43545100A>T	TOPMed
rs376974470	p.Thr10Arg	missense variant	-	NC_000001.11:g.43545104C>G	ESP,ExAC,TOPMed,gnomAD
rs376974470	p.Thr10Met	missense variant	-	NC_000001.11:g.43545104C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu14ProPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.43545111_43545112insC	NCI-TCGA
rs373829166	p.Val15Met	missense variant	-	NC_000001.11:g.43545118G>A	ESP,ExAC,TOPMed,gnomAD
rs373829166	p.Val15Leu	missense variant	-	NC_000001.11:g.43545118G>C	ESP,ExAC,TOPMed,gnomAD
rs373829166	p.Val15Leu	missense variant	-	NC_000001.11:g.43545118G>T	ESP,ExAC,TOPMed,gnomAD
rs780606374	p.Pro16Ser	missense variant	-	NC_000001.11:g.43545121C>T	ExAC,gnomAD
rs563605163	p.Pro16Leu	missense variant	-	NC_000001.11:g.43545122C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1384122242	p.Ala17Thr	missense variant	-	NC_000001.11:g.43545124G>A	gnomAD
rs117228743	p.Val19Met	missense variant	-	NC_000001.11:g.43545130G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1246885392	p.Met20Ile	missense variant	-	NC_000001.11:g.43545135G>T	TOPMed
NCI-TCGA novel	p.Gly22Arg	missense variant	-	NC_000001.11:g.43545139G>C	NCI-TCGA
rs1451378674	p.Ala25Thr	missense variant	-	NC_000001.11:g.43545148G>A	gnomAD
rs1312482627	p.Gly26Asp	missense variant	-	NC_000001.11:g.43545152G>A	gnomAD
rs1278488146	p.Ala27Val	missense variant	-	NC_000001.11:g.43545155C>T	gnomAD
rs142286926	p.Ala27Thr	missense variant	-	NC_000001.11:g.43545154G>A	ESP,ExAC,TOPMed,gnomAD
rs1225917677	p.Gly29Val	missense variant	-	NC_000001.11:g.43545161G>T	gnomAD
rs763748777	p.Ser31Arg	missense variant	-	NC_000001.11:g.43553493C>G	ExAC,TOPMed,gnomAD
rs750930855	p.Phe35Ser	missense variant	-	NC_000001.11:g.43553504T>C	ExAC,gnomAD
rs556396767	p.Ile36Phe	missense variant	-	NC_000001.11:g.43553506A>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1453417778	p.Ile36Thr	missense variant	-	NC_000001.11:g.43553507T>C	gnomAD
rs937131934	p.Val38Phe	missense variant	-	NC_000001.11:g.43553512G>T	TOPMed,gnomAD
NCI-TCGA novel	p.Pro39Leu	missense variant	-	NC_000001.11:g.43553516C>T	NCI-TCGA
rs780553041	p.Asp41Asn	missense variant	-	NC_000001.11:g.43553521G>A	ExAC,gnomAD
rs909321178	p.Thr43Ile	missense variant	-	NC_000001.11:g.43553528C>T	TOPMed
rs747392641	p.Gly44Trp	missense variant	-	NC_000001.11:g.43553530G>T	ExAC,gnomAD
rs1049277336	p.Gly47Arg	missense variant	-	NC_000001.11:g.43553539G>A	gnomAD
rs781508066	p.Ala50Val	missense variant	-	NC_000001.11:g.43553549C>T	ExAC,gnomAD
rs1321313292	p.Ser51Phe	missense variant	-	NC_000001.11:g.43553552C>T	TOPMed
rs748125986	p.Phe52Leu	missense variant	-	NC_000001.11:g.43553556C>G	ExAC,TOPMed,gnomAD
rs576238237	p.Val53Met	missense variant	-	NC_000001.11:g.43553557G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs565068107	p.Thr57Ala	missense variant	-	NC_000001.11:g.43553569A>G	1000Genomes,ExAC,gnomAD
rs770909342	p.Pro60His	missense variant	-	NC_000001.11:g.43553579C>A	ExAC,gnomAD
rs774071378	p.Lys61Gln	missense variant	-	NC_000001.11:g.43553581A>C	ExAC,gnomAD
rs374024117	p.Pro62Leu	missense variant	-	NC_000001.11:g.43553585C>T	ESP,ExAC,TOPMed,gnomAD
COSM188811	p.Arg63His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43553588G>A	NCI-TCGA Cosmic
rs1160984093	p.Arg63Cys	missense variant	-	NC_000001.11:g.43553587C>T	TOPMed
rs775187760	p.Met67Leu	missense variant	-	NC_000001.11:g.43553599A>T	ExAC,TOPMed,gnomAD
rs775187760	p.Met67Leu	missense variant	-	NC_000001.11:g.43553599A>C	ExAC,TOPMed,gnomAD
rs760287504	p.Lys71Glu	missense variant	-	NC_000001.11:g.43553611A>G	ExAC,TOPMed,gnomAD
rs1189436278	p.Gln76Leu	missense variant	-	NC_000001.11:g.43553627A>T	gnomAD
rs367865707	p.Arg77His	missense variant	-	NC_000001.11:g.43553630G>A	ESP,ExAC,TOPMed,gnomAD
rs369031094	p.Ile81Thr	missense variant	-	NC_000001.11:g.43553804T>C	ESP,ExAC,TOPMed,gnomAD
rs1346277417	p.Asp84Gly	missense variant	-	NC_000001.11:g.43553813A>G	TOPMed,gnomAD
COSM909865	p.Asp85Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43553816A>G	NCI-TCGA Cosmic
rs1399064221	p.Asp85Val	missense variant	-	NC_000001.11:g.43553816A>T	TOPMed
rs1287440506	p.Gly86Glu	missense variant	-	NC_000001.11:g.43553819G>A	TOPMed,gnomAD
rs954717138	p.Gly86Arg	missense variant	-	NC_000001.11:g.43553818G>A	TOPMed,gnomAD
rs761438626	p.Leu91Val	missense variant	-	NC_000001.11:g.43553833C>G	ExAC,gnomAD
rs202216979	p.Arg92Trp	missense variant	-	NC_000001.11:g.43553836C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs767916955	p.Arg97Gln	missense variant	-	NC_000001.11:g.43553852G>A	ExAC,gnomAD
rs752081368	p.Arg97Trp	missense variant	-	NC_000001.11:g.43553851C>T	ExAC,TOPMed,gnomAD
rs752081368	p.Arg97Gly	missense variant	-	NC_000001.11:g.43553851C>G	ExAC,TOPMed,gnomAD
rs1265936350	p.Val98Leu	missense variant	-	NC_000001.11:g.43553854G>C	TOPMed,gnomAD
rs1265936350	p.Val98Leu	missense variant	-	NC_000001.11:g.43553854G>T	TOPMed,gnomAD
rs756266392	p.Val98Ala	missense variant	-	NC_000001.11:g.43553855T>C	ExAC,gnomAD
rs371678029	p.Arg100Gln	missense variant	-	NC_000001.11:g.43553861G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala103Val	missense variant	-	NC_000001.11:g.43553870C>T	NCI-TCGA
rs757312037	p.Tyr105Cys	missense variant	-	NC_000001.11:g.43553876A>G	ExAC,gnomAD
rs571501672	p.Glu106Asp	missense variant	-	NC_000001.11:g.43553880G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs778902441	p.Glu106Lys	missense variant	-	NC_000001.11:g.43553878G>A	ExAC,gnomAD
rs758327132	p.Thr108Arg	missense variant	-	NC_000001.11:g.43553885C>G	ExAC
NCI-TCGA novel	p.Leu113Met	missense variant	-	NC_000001.11:g.43553899C>A	NCI-TCGA
rs527385217	p.Lys121Arg	missense variant	-	NC_000001.11:g.43553924A>G	1000Genomes,ExAC,gnomAD
rs1443865876	p.Lys121Glu	missense variant	-	NC_000001.11:g.43553923A>G	TOPMed
COSM1296473	p.Ser123Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43553930C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser123Ter	stop gained	-	NC_000001.11:g.43553930C>G	NCI-TCGA
rs776445536	p.Glu126Lys	missense variant	-	NC_000001.11:g.43553938G>A	ExAC,TOPMed,gnomAD
rs750476610	p.Glu128Lys	missense variant	-	NC_000001.11:g.43569592G>A	ExAC,TOPMed,gnomAD
rs1306598175	p.Gln129His	missense variant	-	NC_000001.11:g.43569597G>C	gnomAD
rs766528777	p.Pro131Ala	missense variant	-	NC_000001.11:g.43569601C>G	ExAC,gnomAD
rs751509707	p.Pro131Leu	missense variant	-	NC_000001.11:g.43569602C>T	ExAC,gnomAD
rs755030848	p.Pro132Leu	missense variant	-	NC_000001.11:g.43569605C>T	ExAC,TOPMed,gnomAD
rs777318046	p.Asp138Asn	missense variant	-	NC_000001.11:g.43569622G>A	ExAC,TOPMed,gnomAD
rs749022267	p.Met139Val	missense variant	-	NC_000001.11:g.43569625A>G	ExAC,gnomAD
rs770321096	p.Met139Ile	missense variant	-	NC_000001.11:g.43569627G>A	ExAC,gnomAD
rs1425153166	p.Met139Arg	missense variant	-	NC_000001.11:g.43569626T>G	gnomAD
NCI-TCGA novel	p.Met139Ile	missense variant	-	NC_000001.11:g.43569627G>C	NCI-TCGA
rs1432596269	p.Val146Ala	missense variant	-	NC_000001.11:g.43569647T>C	gnomAD
rs1170631763	p.Ala149Thr	missense variant	-	NC_000001.11:g.43569655G>A	TOPMed
rs749276357	p.Arg150His	missense variant	-	NC_000001.11:g.43569659G>A	gnomAD
rs1359561471	p.Ala152Gly	missense variant	-	NC_000001.11:g.43569665C>G	gnomAD
rs569999879	p.Ala152Thr	missense variant	-	NC_000001.11:g.43569664G>A	1000Genomes,ExAC
rs1288313499	p.Thr153Ala	missense variant	-	NC_000001.11:g.43569667A>G	gnomAD
rs374531518	p.Thr153Ile	missense variant	-	NC_000001.11:g.43569668C>T	ESP,ExAC,gnomAD
rs960194475	p.Met154Ile	missense variant	-	NC_000001.11:g.43569672G>A	TOPMed,gnomAD
rs773282232	p.Leu155Val	missense variant	-	NC_000001.11:g.43569673C>G	ExAC,TOPMed,gnomAD
rs375157244	p.Ala158Thr	missense variant	-	NC_000001.11:g.43569682G>A	ESP,ExAC,TOPMed,gnomAD
rs368326365	p.Gly159Ser	missense variant	-	NC_000001.11:g.43569685G>A	ESP,ExAC,TOPMed,gnomAD
rs370860175	p.Gly160Arg	missense variant	-	NC_000001.11:g.43569688G>A	ESP,ExAC,TOPMed,gnomAD
rs755880536	p.Glu165Asp	missense variant	-	NC_000001.11:g.43569705G>C	ExAC,gnomAD
NCI-TCGA novel	p.Glu165Lys	missense variant	-	NC_000001.11:g.43569703G>A	NCI-TCGA
rs777667224	p.Phe172Val	missense variant	-	NC_000001.11:g.43569724T>G	ExAC,gnomAD
NCI-TCGA novel	p.Phe172Ser	missense variant	-	NC_000001.11:g.43569725T>C	NCI-TCGA
rs368692509	p.Leu173Phe	missense variant	-	NC_000001.11:g.43569727C>T	ESP,ExAC,gnomAD
rs756996085	p.Pro174Leu	missense variant	-	NC_000001.11:g.43569731C>T	ExAC,TOPMed,gnomAD
rs778340007	p.Asp176Ala	missense variant	-	NC_000001.11:g.43569737A>C	ExAC,gnomAD
rs1281980017	p.Pro177Ala	missense variant	-	NC_000001.11:g.43569739C>G	gnomAD
rs1353396650	p.Pro177Leu	missense variant	-	NC_000001.11:g.43569740C>T	gnomAD
rs150660901	p.Thr179Met	missense variant	-	NC_000001.11:g.43569746C>T	ESP,ExAC,TOPMed,gnomAD
rs1206019354	p.Ser180Gly	missense variant	-	NC_000001.11:g.43569748A>G	TOPMed,gnomAD
rs748737963	p.Ser180Asn	missense variant	-	NC_000001.11:g.43569749G>A	ExAC,gnomAD
rs748737963	p.Ser180Ile	missense variant	-	NC_000001.11:g.43569749G>T	ExAC,gnomAD
rs1050427151	p.Asn181Ser	missense variant	-	NC_000001.11:g.43569752A>G	gnomAD
rs555893108	p.Asn181Asp	missense variant	-	NC_000001.11:g.43569751A>G	gnomAD
rs773693327	p.Gly182Ser	missense variant	-	NC_000001.11:g.43569754G>A	ExAC,TOPMed,gnomAD
rs771288963	p.Arg183His	missense variant	-	NC_000001.11:g.43569758G>A	ExAC,gnomAD
rs1455417237	p.Arg183Cys	missense variant	-	NC_000001.11:g.43569757C>T	gnomAD
rs1275911329	p.Lys185Arg	missense variant	-	NC_000001.11:g.43569764A>G	gnomAD
NCI-TCGA novel	p.Lys185Asn	missense variant	-	NC_000001.11:g.43569765G>T	NCI-TCGA
NCI-TCGA novel	p.Leu187Met	missense variant	-	NC_000001.11:g.43569769C>A	NCI-TCGA
rs774501830	p.Arg188His	missense variant	-	NC_000001.11:g.43569773G>A	ExAC,TOPMed,gnomAD
COSM426314	p.Ser189Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43569776C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu192Trp	missense variant	-	NC_000001.11:g.43578816T>G	NCI-TCGA
rs1385310531	p.Ile194Val	missense variant	-	NC_000001.11:g.43578821A>G	gnomAD
rs139518625	p.Gln202Glu	missense variant	-	NC_000001.11:g.43578845C>G	ESP,TOPMed
rs139518625	p.Gln202Ter	stop gained	-	NC_000001.11:g.43578845C>T	ESP,TOPMed
rs759104730	p.Lys204Asn	missense variant	-	NC_000001.11:g.43578853G>C	ExAC,gnomAD
COSM3865622	p.Glu206Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43578857G>A	NCI-TCGA Cosmic
rs754335848	p.Glu206Ter	stop gained	-	NC_000001.11:g.43578857G>T	ExAC,gnomAD
rs757899600	p.Ala209Val	missense variant	-	NC_000001.11:g.43578867C>T	ExAC,gnomAD
rs750826620	p.Thr210Ala	missense variant	-	NC_000001.11:g.43578869A>G	ExAC,TOPMed,gnomAD
rs758657312	p.Ser212Leu	missense variant	-	NC_000001.11:g.43578876C>T	ExAC,TOPMed,gnomAD
rs1161939784	p.Gly214Asp	missense variant	-	NC_000001.11:g.43578882G>A	gnomAD
rs747245021	p.Thr215Ala	missense variant	-	NC_000001.11:g.43578884A>G	ExAC,gnomAD
rs906834223	p.Arg216His	missense variant	-	NC_000001.11:g.43578888G>A	TOPMed,gnomAD
rs906834223	p.Arg216Leu	missense variant	-	NC_000001.11:g.43578888G>T	TOPMed,gnomAD
COSM6126678	p.Pro220Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43578899C>T	NCI-TCGA Cosmic
rs768752897	p.Ala221Val	missense variant	-	NC_000001.11:g.43578903C>T	ExAC,TOPMed,gnomAD
rs1035295037	p.Asn222Tyr	missense variant	-	NC_000001.11:g.43578905A>T	TOPMed
rs1453668088	p.Val225Leu	missense variant	-	NC_000001.11:g.43578914G>T	gnomAD
rs1377104184	p.Arg226Gln	missense variant	-	NC_000001.11:g.43578918G>A	gnomAD
rs1455359848	p.Arg228His	missense variant	-	NC_000001.11:g.43588734G>A	TOPMed
rs1330678973	p.Arg228Cys	missense variant	-	NC_000001.11:g.43588733C>T	gnomAD
NCI-TCGA novel	p.Arg229Leu	missense variant	-	NC_000001.11:g.43588737G>T	NCI-TCGA
rs1250737549	p.Arg229His	missense variant	-	NC_000001.11:g.43588737G>A	TOPMed
rs1299856963	p.Val230Met	missense variant	-	NC_000001.11:g.43588739G>A	gnomAD
rs1369116115	p.Ala231Asp	missense variant	-	NC_000001.11:g.43588743C>A	gnomAD
rs1468296025	p.Pro232Ser	missense variant	-	NC_000001.11:g.43588745C>T	TOPMed
rs201549619	p.Arg233His	missense variant	-	NC_000001.11:g.43588749G>A	gnomAD
rs775888535	p.Ser235Cys	missense variant	-	NC_000001.11:g.43588755C>G	ExAC,gnomAD
rs370982565	p.Pro237Ser	missense variant	-	NC_000001.11:g.43588760C>T	ESP,TOPMed,gnomAD
rs969964085	p.Ser240Asn	missense variant	-	NC_000001.11:g.43588770G>A	gnomAD
rs969964085	p.Ser240Ile	missense variant	-	NC_000001.11:g.43588770G>T	gnomAD
NCI-TCGA novel	p.Ser240Arg	missense variant	-	NC_000001.11:g.43588771C>A	NCI-TCGA
rs1198021971	p.Gln241Glu	missense variant	-	NC_000001.11:g.43588772C>G	TOPMed
rs1450640377	p.Glu242Lys	missense variant	-	NC_000001.11:g.43588775G>A	gnomAD
NCI-TCGA novel	p.Pro245Ser	missense variant	-	NC_000001.11:g.43588784C>T	NCI-TCGA
rs764333630	p.Gly247Ser	missense variant	-	NC_000001.11:g.43588790G>A	ExAC,TOPMed,gnomAD
rs1459942101	p.Ser248Asn	missense variant	-	NC_000001.11:g.43588794G>A	gnomAD
rs1167481147	p.Val249Met	missense variant	-	NC_000001.11:g.43588796G>A	gnomAD
rs753909516	p.Leu251Val	missense variant	-	NC_000001.11:g.43588802C>G	ExAC,TOPMed,gnomAD
rs568517762	p.Val254Met	missense variant	-	NC_000001.11:g.43588811G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs765398408	p.Ala255Ser	missense variant	-	NC_000001.11:g.43588814G>T	ExAC
rs1322773479	p.Pro259Ala	missense variant	-	NC_000001.11:g.43588826C>G	gnomAD
rs368337407	p.Val263Met	missense variant	-	NC_000001.11:g.43588838G>A	ESP,ExAC,TOPMed,gnomAD
rs751403337	p.Lys264Gln	missense variant	-	NC_000001.11:g.43588841A>C	ExAC,gnomAD
rs754635285	p.Met266Val	missense variant	-	NC_000001.11:g.43588847A>G	ExAC,TOPMed,gnomAD
rs983179950	p.Met267Leu	missense variant	-	NC_000001.11:g.43588850A>T	gnomAD
rs1302980890	p.Gly268Arg	missense variant	-	NC_000001.11:g.43588853G>A	TOPMed
COSM3689707	p.Glu270Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43588861G>T	NCI-TCGA Cosmic
rs142181863	p.Glu270Lys	missense variant	-	NC_000001.11:g.43588859G>A	ESP,ExAC,TOPMed,gnomAD
rs1392922009	p.Leu272Phe	missense variant	-	NC_000001.11:g.43588865C>T	TOPMed
NCI-TCGA novel	p.Leu272Pro	missense variant	-	NC_000001.11:g.43588866T>C	NCI-TCGA
rs747883338	p.Thr273Ser	missense variant	-	NC_000001.11:g.43588869C>G	ExAC,TOPMed,gnomAD
rs747883338	p.Thr273Ile	missense variant	-	NC_000001.11:g.43588869C>T	ExAC,TOPMed,gnomAD
rs769151984	p.Lys274Glu	missense variant	-	NC_000001.11:g.43588871A>G	ExAC,gnomAD
rs1454126684	p.Glu277Lys	missense variant	-	NC_000001.11:g.43588880G>A	TOPMed
rs746345482	p.Met278Thr	missense variant	-	NC_000001.11:g.43588884T>C	ExAC,gnomAD
rs1187315874	p.Pro279Ser	missense variant	-	NC_000001.11:g.43588886C>T	gnomAD
rs772578571	p.Val280Ile	missense variant	-	NC_000001.11:g.43588889G>A	ExAC,gnomAD
rs764349921	p.Arg282His	missense variant	-	NC_000001.11:g.43588896G>A	gnomAD
rs775794645	p.Asn283Lys	missense variant	-	NC_000001.11:g.43588900C>A	ExAC,TOPMed,gnomAD
rs140415781	p.Val284Ile	missense variant	-	NC_000001.11:g.43588901G>A	ESP,ExAC,TOPMed,gnomAD
COSM909867	p.Glu286Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43588908A>G	NCI-TCGA Cosmic
rs769061275	p.Leu287Val	missense variant	-	NC_000001.11:g.43588910C>G	ExAC,gnomAD
rs1250419972	p.Ser288Asn	missense variant	-	NC_000001.11:g.43588914G>A	TOPMed
rs776690110	p.Asn289His	missense variant	-	NC_000001.11:g.43588916A>C	ExAC,gnomAD
rs765219893	p.Val291Ile	missense variant	-	NC_000001.11:g.43588922G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val291Ala	missense variant	-	NC_000001.11:g.43588923T>C	NCI-TCGA
rs557357295	p.Arg292Ser	missense variant	-	NC_000001.11:g.43588925C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs557357295	p.Arg292Cys	missense variant	-	NC_000001.11:g.43588925C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg292Leu	missense variant	-	NC_000001.11:g.43588926G>T	NCI-TCGA
rs762919783	p.Arg292His	missense variant	-	NC_000001.11:g.43588926G>A	ExAC,TOPMed,gnomAD
rs766448564	p.Ala294Thr	missense variant	-	NC_000001.11:g.43588931G>A	ExAC,gnomAD
rs751350194	p.Asn295Ser	missense variant	-	NC_000001.11:g.43588935A>G	ExAC,TOPMed,gnomAD
rs1269794866	p.Val299Met	missense variant	-	NC_000001.11:g.43588946G>A	gnomAD
rs781081287	p.Ser303Leu	missense variant	-	NC_000001.11:g.43588959C>T	ExAC,TOPMed,gnomAD
rs1200604615	p.Thr310Pro	missense variant	-	NC_000001.11:g.43588979A>C	gnomAD
rs1256050298	p.Val315Met	missense variant	-	NC_000001.11:g.43588994G>A	gnomAD
rs1474519709	p.Lys316Asn	missense variant	-	NC_000001.11:g.43588999A>C	TOPMed,gnomAD
rs1184703085	p.Ala317Pro	missense variant	-	NC_000001.11:g.43589000G>C	TOPMed,gnomAD
rs182835593	p.Leu318Pro	missense variant	-	NC_000001.11:g.43590975T>C	1000Genomes,TOPMed
rs753539551	p.Pro319Leu	missense variant	-	NC_000001.11:g.43590978C>T	ExAC,TOPMed,gnomAD
rs756729737	p.Pro321Ser	missense variant	-	NC_000001.11:g.43590983C>T	ExAC,gnomAD
rs756729737	p.Pro321Thr	missense variant	-	NC_000001.11:g.43590983C>A	ExAC,gnomAD
rs778462451	p.Pro322Leu	missense variant	-	NC_000001.11:g.43590987C>T	ExAC,gnomAD
rs755526598	p.Leu325Val	missense variant	-	NC_000001.11:g.43590995C>G	ExAC,gnomAD
rs781347680	p.Val326Met	missense variant	-	NC_000001.11:g.43590998G>A	ExAC,TOPMed,gnomAD
rs1342143736	p.Thr328Ser	missense variant	-	NC_000001.11:g.43591004A>T	gnomAD
rs1288701467	p.Glu329Gln	missense variant	-	NC_000001.11:g.43591007G>C	TOPMed
rs769856471	p.Thr330Arg	missense variant	-	NC_000001.11:g.43591011C>G	ExAC,TOPMed,gnomAD
rs748578998	p.Thr330Ala	missense variant	-	NC_000001.11:g.43591010A>G	ExAC,TOPMed,gnomAD
rs1190811308	p.Thr333Ile	missense variant	-	NC_000001.11:g.43591020C>T	gnomAD
rs773543094	p.Val335Ile	missense variant	-	NC_000001.11:g.43591025G>A	ExAC,TOPMed,gnomAD
rs749558306	p.Thr336Ile	missense variant	-	NC_000001.11:g.43591029C>T	ExAC,gnomAD
rs771125743	p.Leu337Phe	missense variant	-	NC_000001.11:g.43591031C>T	ExAC,gnomAD
rs771125743	p.Leu337Ile	missense variant	-	NC_000001.11:g.43591031C>A	ExAC,gnomAD
rs1168007555	p.Asp340Tyr	missense variant	-	NC_000001.11:g.43591040G>T	gnomAD
rs1351426605	p.Asp340Glu	missense variant	-	NC_000001.11:g.43591042C>G	gnomAD
NCI-TCGA novel	p.Ser341PhePheSerTerUnk	frameshift	-	NC_000001.11:g.43591043_43591044insTC	NCI-TCGA
NCI-TCGA novel	p.Ser341Tyr	missense variant	-	NC_000001.11:g.43591044C>A	NCI-TCGA
rs767493242	p.Gly342Val	missense variant	-	NC_000001.11:g.43591047G>T	ExAC,gnomAD
rs895500892	p.Ser344Leu	missense variant	-	NC_000001.11:g.43591053C>T	TOPMed,gnomAD
rs775100398	p.Ser344Pro	missense variant	-	NC_000001.11:g.43591052T>C	ExAC,gnomAD
rs1410741955	p.Thr348Asn	missense variant	-	NC_000001.11:g.43591065C>A	TOPMed
rs753484573	p.Tyr349Ser	missense variant	-	NC_000001.11:g.43591068A>C	ExAC,gnomAD
rs1292708024	p.Tyr349His	missense variant	-	NC_000001.11:g.43591067T>C	gnomAD
rs563115918	p.Gln353Arg	missense variant	-	NC_000001.11:g.43591080A>G	1000Genomes,ExAC,gnomAD
rs143362739	p.Arg355Cys	missense variant	-	NC_000001.11:g.43591085C>T	ESP,ExAC,TOPMed,gnomAD
rs540408475	p.Arg355His	missense variant	-	NC_000001.11:g.43591086G>A	1000Genomes,ExAC,gnomAD
rs143362739	p.Arg355Ser	missense variant	-	NC_000001.11:g.43591085C>A	ESP,ExAC,TOPMed,gnomAD
rs79621077	p.Ala356Thr	missense variant	-	NC_000001.11:g.43591088G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs79621077	p.Ala356Ser	missense variant	-	NC_000001.11:g.43591088G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs368187251	p.Ala356Val	missense variant	-	NC_000001.11:g.43591089C>T	ESP,ExAC,gnomAD
rs749507478	p.Ala357Pro	missense variant	-	NC_000001.11:g.43591091G>C	ExAC,TOPMed,gnomAD
rs142785985	p.Ala357Val	missense variant	-	NC_000001.11:g.43591092C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala357Thr	missense variant	-	NC_000001.11:g.43591091G>A	NCI-TCGA
rs772095405	p.Thr359Met	missense variant	-	NC_000001.11:g.43591098C>T	ExAC,TOPMed,gnomAD
rs772095405	p.Thr359Arg	missense variant	-	NC_000001.11:g.43591098C>G	ExAC,TOPMed,gnomAD
rs1286468849	p.Glu360Asp	missense variant	-	NC_000001.11:g.43591102G>T	gnomAD
rs760597858	p.Gly361Ser	missense variant	-	NC_000001.11:g.43591103G>A	ExAC,gnomAD
COSM3489974	p.Pro362Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43591107C>T	NCI-TCGA Cosmic
rs761391796	p.Gln364Leu	missense variant	-	NC_000001.11:g.43591113A>T	ExAC,gnomAD
rs1331433592	p.Glu365Gly	missense variant	-	NC_000001.11:g.43591116A>G	gnomAD
rs1379971160	p.Ala370Ser	missense variant	-	NC_000001.11:g.43591130G>T	gnomAD
NCI-TCGA novel	p.Ala370Gly	missense variant	-	NC_000001.11:g.43591131C>G	NCI-TCGA
NCI-TCGA novel	p.Thr372Ala	missense variant	-	NC_000001.11:g.43591136A>G	NCI-TCGA
rs765844810	p.Arg373His	missense variant	-	NC_000001.11:g.43591140G>A	ExAC,gnomAD
rs1212415516	p.Ser375Gly	missense variant	-	NC_000001.11:g.43591145A>G	gnomAD
rs1239117562	p.Ile376Val	missense variant	-	NC_000001.11:g.43591148A>G	gnomAD
rs1186911250	p.Gly378Ser	missense variant	-	NC_000001.11:g.43591154G>A	gnomAD
rs1229058695	p.Leu379Arg	missense variant	-	NC_000001.11:g.43591158T>G	TOPMed
rs1415425444	p.Phe382Ser	missense variant	-	NC_000001.11:g.43591167T>C	gnomAD
rs756633630	p.Ser383Leu	missense variant	-	NC_000001.11:g.43591170C>T	ExAC,TOPMed,gnomAD
rs376580480	p.Arg388Cys	missense variant	-	NC_000001.11:g.43591184C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs779257179	p.Arg388His	missense variant	-	NC_000001.11:g.43591185G>A	ExAC,TOPMed,gnomAD
rs779257179	p.Arg388Leu	missense variant	-	NC_000001.11:g.43591185G>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val389Met	missense variant	-	NC_000001.11:g.43591187G>A	NCI-TCGA
rs746910917	p.Ala391Val	missense variant	-	NC_000001.11:g.43591194C>T	ExAC,TOPMed,gnomAD
rs571781315	p.Ala391Ser	missense variant	-	NC_000001.11:g.43591193G>T	1000Genomes,ExAC,gnomAD
rs1279183680	p.Asn393Lys	missense variant	-	NC_000001.11:g.43591201C>A	gnomAD
rs776374379	p.Ser394Ile	missense variant	-	NC_000001.11:g.43591203G>T	ExAC,TOPMed,gnomAD
rs776374379	p.Ser394Asn	missense variant	-	NC_000001.11:g.43591203G>A	ExAC,TOPMed,gnomAD
rs776374379	p.Ser394Thr	missense variant	-	NC_000001.11:g.43591203G>C	ExAC,TOPMed,gnomAD
rs772886593	p.Arg397Gln	missense variant	-	NC_000001.11:g.43591212G>A	ExAC,gnomAD
rs1210046572	p.Pro399Thr	missense variant	-	NC_000001.11:g.43591217C>A	gnomAD
rs61733187	p.Pro399Leu	missense variant	-	NC_000001.11:g.43591218C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs761196800	p.Pro400Ala	missense variant	-	NC_000001.11:g.43591220C>G	ExAC,TOPMed,gnomAD
rs764728270	p.Ser401Gly	missense variant	-	NC_000001.11:g.43591223A>G	ExAC,gnomAD
rs754204068	p.Ser401Arg	missense variant	-	NC_000001.11:g.43591225C>A	ExAC,TOPMed,gnomAD
rs757666619	p.Glu402Lys	missense variant	-	NC_000001.11:g.43591226G>A	ExAC,gnomAD
rs1433610918	p.Ala403Ser	missense variant	-	NC_000001.11:g.43591229G>T	gnomAD
rs547221830	p.Arg405Trp	missense variant	-	NC_000001.11:g.43591235C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs758562785	p.Ala406Ser	missense variant	-	NC_000001.11:g.43591238G>T	ExAC,TOPMed,gnomAD
rs748429132	p.Arg407Cys	missense variant	-	NC_000001.11:g.43591241C>T	ExAC,TOPMed,gnomAD
rs748429132	p.Arg407Gly	missense variant	-	NC_000001.11:g.43591241C>G	ExAC,TOPMed,gnomAD
rs748429132	p.Arg407Ser	missense variant	-	NC_000001.11:g.43591241C>A	ExAC,TOPMed,gnomAD
rs373662568	p.Arg407His	missense variant	-	NC_000001.11:g.43591242G>A	ESP,ExAC,TOPMed,gnomAD
rs748121483	p.Thr408Met	missense variant	-	NC_000001.11:g.43591245C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly409Arg	missense variant	-	NC_000001.11:g.43591247G>A	NCI-TCGA
rs1347204574	p.Glu410Gly	missense variant	-	NC_000001.11:g.43591251A>G	gnomAD
rs772934252	p.Gln411His	missense variant	-	NC_000001.11:g.43591255G>C	ExAC,gnomAD
rs1065775	p.Ala412Val	missense variant	-	NC_000001.11:g.43591257C>T	UniProt,dbSNP
VAR_054766	p.Ala412Val	missense variant	-	NC_000001.11:g.43591257C>T	UniProt
rs1065775	p.Ala412Val	missense variant	-	NC_000001.11:g.43591257C>T	ExAC,TOPMed,gnomAD
rs1186829781	p.Ala412Ser	missense variant	-	NC_000001.11:g.43591256G>T	TOPMed,gnomAD
rs1186829781	p.Ala412Pro	missense variant	-	NC_000001.11:g.43591256G>C	TOPMed,gnomAD
rs1205526671	p.Pro413Leu	missense variant	-	NC_000001.11:g.43591260C>T	gnomAD
rs369985213	p.Pro416Ser	missense variant	-	NC_000001.11:g.43591268C>T	ESP,TOPMed,gnomAD
rs372477577	p.Arg418His	missense variant	-	NC_000001.11:g.43591275G>A	ESP,ExAC,TOPMed,gnomAD
rs759136731	p.Arg418Cys	missense variant	-	NC_000001.11:g.43591274C>T	ExAC
rs536262487	p.Arg419His	missense variant	-	NC_000001.11:g.43591278G>A	1000Genomes,ExAC,gnomAD
rs1453259016	p.Arg419Cys	missense variant	-	NC_000001.11:g.43591277C>T	TOPMed,gnomAD
rs375757987	p.Val420Met	missense variant	-	NC_000001.11:g.43591280G>A	ESP,ExAC,gnomAD
rs1394757550	p.Gln421Lys	missense variant	-	NC_000001.11:g.43591283C>A	gnomAD
rs1360467408	p.Arg423His	missense variant	-	NC_000001.11:g.43591290G>A	gnomAD
rs1471991235	p.Arg423Cys	missense variant	-	NC_000001.11:g.43591289C>T	TOPMed
rs751831806	p.Ala427Pro	missense variant	-	NC_000001.11:g.43591301G>C	ExAC,TOPMed,gnomAD
rs1299928013	p.Ala427Val	missense variant	-	NC_000001.11:g.43591302C>T	gnomAD
rs751831806	p.Ala427Thr	missense variant	-	NC_000001.11:g.43591301G>A	ExAC,TOPMed,gnomAD
rs1215117006	p.Met430Val	missense variant	-	NC_000001.11:g.43591310A>G	TOPMed
rs1250735663	p.Val432Met	missense variant	-	NC_000001.11:g.43591316G>A	gnomAD
rs1211482971	p.Gln433Ter	stop gained	-	NC_000001.11:g.43591319C>T	gnomAD
rs942716991	p.Gln433His	missense variant	-	NC_000001.11:g.43591321G>T	gnomAD
rs1292246821	p.Gln433Arg	missense variant	-	NC_000001.11:g.43591320A>G	TOPMed
rs755017217	p.Pro436Leu	missense variant	-	NC_000001.11:g.43591329C>T	ExAC,gnomAD
rs1054446954	p.Glu438Gly	missense variant	-	NC_000001.11:g.43591335A>G	TOPMed
rs931536811	p.Glu438Lys	missense variant	-	NC_000001.11:g.43591334G>A	TOPMed,gnomAD
rs931536811	p.Glu438Gln	missense variant	-	NC_000001.11:g.43591334G>C	TOPMed,gnomAD
rs1450583445	p.Glu439Asp	missense variant	-	NC_000001.11:g.43591339G>T	gnomAD
rs1193066225	p.Pro440Thr	missense variant	-	NC_000001.11:g.43591340C>A	gnomAD
rs781314317	p.Pro440Leu	missense variant	-	NC_000001.11:g.43591341C>T	ExAC,TOPMed,gnomAD
rs781314317	p.Pro440Arg	missense variant	-	NC_000001.11:g.43591341C>G	ExAC,TOPMed,gnomAD
rs1362908192	p.Asn441Ser	missense variant	-	NC_000001.11:g.43591344A>G	TOPMed
rs1393940547	p.Gly442Val	missense variant	-	NC_000001.11:g.43591347G>T	gnomAD
NCI-TCGA novel	p.Gly442Ser	missense variant	-	NC_000001.11:g.43591346G>A	NCI-TCGA
rs756055613	p.Val444Met	missense variant	-	NC_000001.11:g.43591352G>A	ExAC,gnomAD
rs756055613	p.Val444Leu	missense variant	-	NC_000001.11:g.43591352G>T	ExAC,gnomAD
rs1004348611	p.Arg445Gln	missense variant	-	NC_000001.11:g.43591356G>A	TOPMed,gnomAD
rs887284804	p.Arg445Trp	missense variant	-	NC_000001.11:g.43591355C>T	TOPMed,gnomAD
rs1246641379	p.Gly446Arg	missense variant	-	NC_000001.11:g.43591358G>A	gnomAD
rs770566976	p.Arg448His	missense variant	-	NC_000001.11:g.43591365G>A	ExAC,gnomAD
rs749068389	p.Arg448Cys	missense variant	-	NC_000001.11:g.43591364C>T	ExAC,TOPMed,gnomAD
rs370471082	p.Val449Ile	missense variant	-	NC_000001.11:g.43591367G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs3748796	p.Tyr450Cys	missense variant	-	NC_000001.11:g.43591371A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs3748796	p.Tyr450Cys	missense variant	-	NC_000001.11:g.43591371A>G	UniProt,dbSNP
VAR_020299	p.Tyr450Cys	missense variant	-	NC_000001.11:g.43591371A>G	UniProt
rs1204098813	p.Tyr450Ter	stop gained	-	NC_000001.11:g.43591372C>G	TOPMed,gnomAD
rs1189049815	p.Pro453Leu	missense variant	-	NC_000001.11:g.43591380C>T	gnomAD
rs1426084669	p.Pro453Ala	missense variant	-	NC_000001.11:g.43591379C>G	gnomAD
NCI-TCGA novel	p.Pro453Ser	missense variant	-	NC_000001.11:g.43591379C>T	NCI-TCGA
rs775153874	p.Arg456His	missense variant	-	NC_000001.11:g.43591389G>A	ExAC,gnomAD
rs371589885	p.Arg457Pro	missense variant	-	NC_000001.11:g.43591392G>C	ExAC,TOPMed,gnomAD
rs371589885	p.Arg457His	missense variant	-	NC_000001.11:g.43591392G>A	ExAC,TOPMed,gnomAD
rs1161603881	p.Arg457Cys	missense variant	-	NC_000001.11:g.43591391C>T	gnomAD
rs1453124855	p.Pro458Ser	missense variant	-	NC_000001.11:g.43591394C>T	gnomAD
rs765697855	p.Pro459Leu	missense variant	-	NC_000001.11:g.43591398C>T	ExAC,TOPMed,gnomAD
rs1287200699	p.Pro459Ser	missense variant	-	NC_000001.11:g.43591397C>T	TOPMed,gnomAD
rs763208022	p.Asn460Ser	missense variant	-	NC_000001.11:g.43591401A>G	ExAC,gnomAD
rs1231299958	p.Ala461Thr	missense variant	-	NC_000001.11:g.43591403G>A	TOPMed,gnomAD
COSM1342890	p.Trp462Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.43591408G>A	NCI-TCGA Cosmic
rs918748407	p.His463Tyr	missense variant	-	NC_000001.11:g.43591409C>T	gnomAD
rs1289821986	p.Lys464Glu	missense variant	-	NC_000001.11:g.43591412A>G	gnomAD
rs934199065	p.His465Tyr	missense variant	-	NC_000001.11:g.43591415C>T	TOPMed,gnomAD
rs751772672	p.Asn466Lys	missense variant	-	NC_000001.11:g.43591420C>A	ExAC,gnomAD
NCI-TCGA novel	p.Thr467Ile	missense variant	-	NC_000001.11:g.43591422C>T	NCI-TCGA
rs370654753	p.Asp468Asn	missense variant	-	NC_000001.11:g.43591424G>A	ESP,ExAC,gnomAD
rs1031553811	p.Ala469Val	missense variant	-	NC_000001.11:g.43591428C>T	TOPMed,gnomAD
rs752774736	p.Ala469Thr	missense variant	-	NC_000001.11:g.43591427G>A	ExAC,TOPMed,gnomAD
rs956070708	p.Leu471Phe	missense variant	-	NC_000001.11:g.43591433C>T	TOPMed,gnomAD
rs992617145	p.Leu471Pro	missense variant	-	NC_000001.11:g.43591434T>C	TOPMed
rs1156962444	p.Leu472Phe	missense variant	-	NC_000001.11:g.43591436C>T	gnomAD
rs1379466189	p.Thr473Met	missense variant	-	NC_000001.11:g.43591440C>T	gnomAD
rs150324325	p.Val475Leu	missense variant	-	NC_000001.11:g.43591445G>T	ESP,ExAC,TOPMed,gnomAD
rs150324325	p.Val475Met	missense variant	-	NC_000001.11:g.43591445G>A	ESP,ExAC,TOPMed,gnomAD
rs1309628467	p.Gly476Asp	missense variant	-	NC_000001.11:g.43591449G>A	gnomAD
rs1412636837	p.Gly476Ser	missense variant	-	NC_000001.11:g.43591448G>A	TOPMed,gnomAD
rs1490262416	p.Leu479Pro	missense variant	-	NC_000001.11:g.43591458T>C	TOPMed
rs573761255	p.Ser485Asn	missense variant	-	NC_000001.11:g.43591476G>A	1000Genomes,ExAC,gnomAD
rs1207652998	p.Leu486Met	missense variant	-	NC_000001.11:g.43591478C>A	gnomAD
rs768264448	p.Arg487Cys	missense variant	-	NC_000001.11:g.43591481C>T	ExAC,TOPMed,gnomAD
rs773564240	p.Arg487His	missense variant	-	NC_000001.11:g.43591482G>A	ExAC,TOPMed,gnomAD
rs771184014	p.Val488Met	missense variant	-	NC_000001.11:g.43591484G>A	ExAC,gnomAD
rs930295481	p.Leu489His	missense variant	-	NC_000001.11:g.43591488T>A	TOPMed
rs946122334	p.Ala490Ser	missense variant	-	NC_000001.11:g.43591490G>T	gnomAD
rs946122334	p.Ala490Thr	missense variant	-	NC_000001.11:g.43591490G>A	gnomAD
rs1432823468	p.Ala490Val	missense variant	-	NC_000001.11:g.43591491C>T	gnomAD
rs1354879374	p.Phe491Leu	missense variant	-	NC_000001.11:g.43591495C>G	TOPMed,gnomAD
rs1354879374	p.Phe491Leu	missense variant	-	NC_000001.11:g.43591495C>A	TOPMed,gnomAD
rs774708497	p.Thr492Ser	missense variant	-	NC_000001.11:g.43591496A>T	ExAC,TOPMed,gnomAD
rs1296085702	p.Thr492Ile	missense variant	-	NC_000001.11:g.43591497C>T	gnomAD
rs887326029	p.Ala493Val	missense variant	-	NC_000001.11:g.43591500C>T	TOPMed,gnomAD
rs375847889	p.Ala493Thr	missense variant	-	NC_000001.11:g.43591499G>A	1000Genomes,ESP,ExAC,gnomAD
rs760647060	p.Val494Met	missense variant	-	NC_000001.11:g.43591502G>A	ExAC,TOPMed,gnomAD
COSM1342891	p.Val494Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43591503T>C	NCI-TCGA Cosmic
COSM3489976	p.Gly495Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43591505G>A	NCI-TCGA Cosmic
rs757233751	p.Asp496Gly	missense variant	-	NC_000001.11:g.43591509A>G	ExAC,gnomAD
rs368501227	p.Asp496Asn	missense variant	-	NC_000001.11:g.43591508G>A	ESP,ExAC,TOPMed,gnomAD
rs750275015	p.Pro498Leu	missense variant	-	NC_000001.11:g.43591515C>T	ExAC,gnomAD
rs895065406	p.Pro501Ala	missense variant	-	NC_000001.11:g.43591523C>G	TOPMed,gnomAD
rs895065406	p.Pro501Ser	missense variant	-	NC_000001.11:g.43591523C>T	TOPMed,gnomAD
rs1188172215	p.Thr502Ile	missense variant	-	NC_000001.11:g.43591527C>T	gnomAD
rs996952375	p.Thr502Ala	missense variant	-	NC_000001.11:g.43591526A>G	TOPMed,gnomAD
rs1427684895	p.Gln504Arg	missense variant	-	NC_000001.11:g.43591533A>G	gnomAD
rs1168074813	p.Val505Phe	missense variant	-	NC_000001.11:g.43591535G>T	gnomAD
rs1461665604	p.Thr507Met	missense variant	-	NC_000001.11:g.43591542C>T	TOPMed,gnomAD
rs758079244	p.Thr507Ala	missense variant	-	NC_000001.11:g.43591541A>G	ExAC,gnomAD
rs747721714	p.Ala513Val	missense variant	-	NC_000001.11:g.43591818C>T	ExAC,gnomAD
COSM4404657	p.Gln514Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.43591820C>T	NCI-TCGA Cosmic
rs373978818	p.Ala516Val	missense variant	-	NC_000001.11:g.43591827C>T	ESP,ExAC,TOPMed,gnomAD
rs201705061	p.Ala516Pro	missense variant	-	NC_000001.11:g.43591826G>C	ESP,ExAC,TOPMed,gnomAD
rs201705061	p.Ala516Thr	missense variant	-	NC_000001.11:g.43591826G>A	ESP,ExAC,TOPMed,gnomAD
rs369772044	p.Phe518Leu	missense variant	-	NC_000001.11:g.43591832T>C	ESP,TOPMed,gnomAD
rs747134912	p.Gln519Lys	missense variant	-	NC_000001.11:g.43591835C>A	ExAC,TOPMed,gnomAD
rs778628256	p.Glu521Lys	missense variant	-	NC_000001.11:g.43591841G>A	ExAC,TOPMed,gnomAD
rs761933943	p.Val522Met	missense variant	-	NC_000001.11:g.43591844G>A	ExAC,TOPMed,gnomAD
rs1348588531	p.Ser524Trp	missense variant	-	NC_000001.11:g.43591851C>G	gnomAD
rs1282365635	p.Asp525Gly	missense variant	-	NC_000001.11:g.43591854A>G	gnomAD
rs1483547386	p.Thr526Ser	missense variant	-	NC_000001.11:g.43591857C>G	TOPMed
COSM909868	p.Arg527Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43591860G>T	NCI-TCGA Cosmic
rs754542750	p.Gln529Lys	missense variant	-	NC_000001.11:g.43591865C>A	ExAC,TOPMed,gnomAD
rs368816972	p.Leu530Phe	missense variant	-	NC_000001.11:g.43591868C>T	ESP,ExAC,TOPMed,gnomAD
rs200072533	p.Ser531Leu	missense variant	-	NC_000001.11:g.43591872C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser531Ter	stop gained	-	NC_000001.11:g.43591872C>A	NCI-TCGA
rs1225380934	p.Trp532Ter	stop gained	-	NC_000001.11:g.43591876G>A	TOPMed
rs755587343	p.Leu534Val	missense variant	-	NC_000001.11:g.43591880C>G	ExAC,gnomAD
rs1343911221	p.Pro535Leu	missense variant	-	NC_000001.11:g.43591884C>T	TOPMed
rs746359623	p.Pro535Ser	missense variant	-	NC_000001.11:g.43591883C>T	ExAC,gnomAD
rs139284587	p.Pro536Ala	missense variant	-	NC_000001.11:g.43591886C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs914839750	p.Gln537Arg	missense variant	-	NC_000001.11:g.43591890A>G	gnomAD
rs780240989	p.Gln537Glu	missense variant	-	NC_000001.11:g.43591889C>G	ExAC,gnomAD
NCI-TCGA novel	p.Gln537Lys	missense variant	-	NC_000001.11:g.43591889C>A	NCI-TCGA
rs747424443	p.Glu538Gly	missense variant	-	NC_000001.11:g.43591893A>G	ExAC,gnomAD
rs748453373	p.Arg539Gln	missense variant	-	NC_000001.11:g.43591896G>A	ExAC,TOPMed,gnomAD
rs776883780	p.Arg539Trp	missense variant	-	NC_000001.11:g.43591895C>T	ExAC,TOPMed,gnomAD
rs370784590	p.Ile540Met	missense variant	-	NC_000001.11:g.43591900C>G	ESP,TOPMed
rs377374918	p.Ile541Val	missense variant	-	NC_000001.11:g.43591901A>G	ESP,ExAC,TOPMed,gnomAD
rs762913708	p.Met542Thr	missense variant	-	NC_000001.11:g.43591905T>C	ExAC,gnomAD
rs773435037	p.Met542Leu	missense variant	-	NC_000001.11:g.43591904A>T	ExAC,gnomAD
rs932846356	p.Glu544Asp	missense variant	-	NC_000001.11:g.43591912A>T	TOPMed
rs200879907	p.Trp548Cys	missense variant	-	NC_000001.11:g.43591924G>T	1000Genomes,ExAC,gnomAD
rs200147342	p.Ala549Glu	missense variant	-	NC_000001.11:g.43591926C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs200147342	p.Ala549Val	missense variant	-	NC_000001.11:g.43591926C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1435718099	p.Ala550Ser	missense variant	-	NC_000001.11:g.43591928G>T	TOPMed,gnomAD
rs1435718099	p.Ala550Thr	missense variant	-	NC_000001.11:g.43591928G>A	TOPMed,gnomAD
rs926058235	p.Glu551Lys	missense variant	-	NC_000001.11:g.43591931G>A	TOPMed
rs148716858	p.Asp552Glu	missense variant	-	NC_000001.11:g.43591936C>G	1000Genomes,ESP,ExAC,gnomAD
rs148716858	p.Asp552Glu	missense variant	-	NC_000001.11:g.43591936C>A	1000Genomes,ESP,ExAC,gnomAD
rs376335770	p.Glu553Lys	missense variant	-	NC_000001.11:g.43591937G>A	ESP,ExAC,TOPMed,gnomAD
rs763528233	p.Asp554Glu	missense variant	-	NC_000001.11:g.43591942C>G	ExAC,gnomAD
rs1192271277	p.Gln555Arg	missense variant	-	NC_000001.11:g.43591944A>G	gnomAD
rs1350824421	p.His557Tyr	missense variant	-	NC_000001.11:g.43592457C>T	gnomAD
rs1205028109	p.Lys558Arg	missense variant	-	NC_000001.11:g.43592461A>G	gnomAD
rs756352829	p.Thr560Asn	missense variant	-	NC_000001.11:g.43592467C>A	ExAC,gnomAD
COSM125680	p.Phe561Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43592469T>C	NCI-TCGA Cosmic
rs3748800	p.Asp562Asn	missense variant	-	NC_000001.11:g.43592472G>A	UniProt,dbSNP
VAR_020300	p.Asp562Asn	missense variant	-	NC_000001.11:g.43592472G>A	UniProt
rs3748800	p.Asp562Asn	missense variant	-	NC_000001.11:g.43592472G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs771037116	p.Pro563Ala	missense variant	-	NC_000001.11:g.43592475C>G	ExAC,gnomAD
rs778917013	p.Pro563Leu	missense variant	-	NC_000001.11:g.43592476C>T	ExAC,TOPMed,gnomAD
rs771037116	p.Pro563Ser	missense variant	-	NC_000001.11:g.43592475C>T	ExAC,gnomAD
rs372713942	p.Thr564Ala	missense variant	-	NC_000001.11:g.43592478A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs541760221	p.Ser565Phe	missense variant	-	NC_000001.11:g.43592482C>T	1000Genomes,ExAC,gnomAD
rs1313265257	p.Thr568Ile	missense variant	-	NC_000001.11:g.43592491C>T	TOPMed,gnomAD
rs1393907999	p.Leu569Gln	missense variant	-	NC_000001.11:g.43592494T>A	gnomAD
rs201453872	p.Leu569Val	missense variant	-	NC_000001.11:g.43592493C>G	1000Genomes,ExAC,gnomAD
rs373396517	p.Glu570Ala	missense variant	-	NC_000001.11:g.43592497A>C	ESP,TOPMed,gnomAD
rs373396517	p.Glu570Gly	missense variant	-	NC_000001.11:g.43592497A>G	ESP,TOPMed,gnomAD
rs776265538	p.Lys573Arg	missense variant	-	NC_000001.11:g.43592506A>G	ExAC,gnomAD
rs530318417	p.Pro574Ala	missense variant	-	NC_000001.11:g.43592508C>G	1000Genomes,ExAC,gnomAD
rs1447021392	p.Asp575His	missense variant	-	NC_000001.11:g.43592511G>C	TOPMed
rs764750522	p.Thr576Ser	missense variant	-	NC_000001.11:g.43592514A>T	ExAC,gnomAD
rs772605619	p.Thr576Ile	missense variant	-	NC_000001.11:g.43592515C>T	ExAC,gnomAD
rs758181842	p.Leu577His	missense variant	-	NC_000001.11:g.43592518T>A	ExAC,TOPMed,gnomAD
rs376375127	p.Arg579Cys	missense variant	-	NC_000001.11:g.43592523C>T	ESP,ExAC,TOPMed,gnomAD
rs753304290	p.Arg579His	missense variant	-	NC_000001.11:g.43592524G>A	ExAC,TOPMed,gnomAD
rs1418563085	p.Gln581His	missense variant	-	NC_000001.11:g.43592531G>T	gnomAD
rs764618194	p.Gln581Arg	missense variant	-	NC_000001.11:g.43592530A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala584Val	missense variant	-	NC_000001.11:g.43592539C>T	NCI-TCGA
rs147188221	p.Arg585Cys	missense variant	-	NC_000001.11:g.43592541C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs144513069	p.Arg585His	missense variant	-	NC_000001.11:g.43592542G>A	ESP,ExAC,TOPMed,gnomAD
rs1000899867	p.Met588Ile	missense variant	-	NC_000001.11:g.43592552G>A	TOPMed,gnomAD
rs1327156374	p.Met588Val	missense variant	-	NC_000001.11:g.43592550A>G	TOPMed
rs79766207	p.Val590Met	missense variant	-	NC_000001.11:g.43592556G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs79766207	p.Val590Leu	missense variant	-	NC_000001.11:g.43592556G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs79766207	p.Val590Leu	missense variant	-	NC_000001.11:g.43592556G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs150963518	p.Val592Ile	missense variant	-	NC_000001.11:g.43592562G>A	ESP,ExAC,TOPMed,gnomAD
rs1373771874	p.Phe593Ser	missense variant	-	NC_000001.11:g.43592566T>C	gnomAD
COSM3805333	p.Thr594Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43592568A>G	NCI-TCGA Cosmic
COSM3985084	p.Pro595Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43592571C>G	NCI-TCGA Cosmic
rs762345034	p.Ile597Val	missense variant	-	NC_000001.11:g.43592577A>G	ExAC,gnomAD
rs1442498608	p.Ile597Thr	missense variant	-	NC_000001.11:g.43592578T>C	TOPMed,gnomAD
rs1020428969	p.Ala599Thr	missense variant	-	NC_000001.11:g.43592583G>A	TOPMed
rs751589837	p.Arg600His	missense variant	-	NC_000001.11:g.43592587G>A	ExAC,TOPMed,gnomAD
rs751589837	p.Arg600Leu	missense variant	-	NC_000001.11:g.43592587G>T	ExAC,TOPMed,gnomAD
rs766024179	p.Arg600Cys	missense variant	-	NC_000001.11:g.43592586C>T	ExAC,TOPMed,gnomAD
rs761321345	p.Ala602Val	missense variant	-	NC_000001.11:g.43592593C>T	ExAC,TOPMed,gnomAD
rs1254987769	p.Ala602Thr	missense variant	-	NC_000001.11:g.43592592G>A	gnomAD
rs754156472	p.Gln603Glu	missense variant	-	NC_000001.11:g.43592595C>G	ExAC,gnomAD
rs757452368	p.Gln603Arg	missense variant	-	NC_000001.11:g.43592596A>G	ExAC,gnomAD
rs1232705923	p.Pro606Leu	missense variant	-	NC_000001.11:g.43597751C>T	gnomAD
rs868510741	p.Ser607Pro	missense variant	-	NC_000001.11:g.43597753T>C	TOPMed,gnomAD
rs1217817504	p.Ala608Pro	missense variant	-	NC_000001.11:g.43597756G>C	gnomAD
rs1217817504	p.Ala608Thr	missense variant	-	NC_000001.11:g.43597756G>A	gnomAD
rs1242703150	p.Pro609Ser	missense variant	-	NC_000001.11:g.43597759C>T	gnomAD
rs1259101040	p.Gln611Pro	missense variant	-	NC_000001.11:g.43597766A>C	TOPMed,gnomAD
rs1475349786	p.Gln611His	missense variant	-	NC_000001.11:g.43597767G>C	gnomAD
rs1180724695	p.Lys612Arg	missense variant	-	NC_000001.11:g.43597769A>G	gnomAD
rs1363468504	p.Met614Thr	missense variant	-	NC_000001.11:g.43597775T>C	TOPMed
rs369236165	p.Met614Ile	missense variant	-	NC_000001.11:g.43597776G>C	ESP,TOPMed,gnomAD
rs369236165	p.Met614Ile	missense variant	-	NC_000001.11:g.43597776G>A	ESP,TOPMed,gnomAD
rs1387881232	p.Cys615Phe	missense variant	-	NC_000001.11:g.43597778G>T	TOPMed
RCV000144043	p.Val616Ter	frameshift	Breasts and/or nipples, aplasia or hypoplasia of, 2 (BNAH2)	NC_000001.11:g.43597775_43597776TG[3]	ClinVar
rs1160451856	p.Val616Ala	missense variant	-	NC_000001.11:g.43597781T>C	gnomAD
rs745350125	p.Gly619Ser	missense variant	-	NC_000001.11:g.43597789G>A	ExAC,gnomAD
rs1265743877	p.Thr622Met	missense variant	-	NC_000001.11:g.43597799C>T	TOPMed,gnomAD
rs1447541618	p.Val623Ala	missense variant	-	NC_000001.11:g.43597802T>C	gnomAD
rs1356278983	p.Val623Ile	missense variant	-	NC_000001.11:g.43597801G>A	gnomAD
rs771749077	p.Arg624Gln	missense variant	-	NC_000001.11:g.43597805G>A	ExAC,gnomAD
COSM4008261	p.Arg624Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43597805G>T	NCI-TCGA Cosmic
rs1224465661	p.Val625Ile	missense variant	-	NC_000001.11:g.43597807G>A	gnomAD
rs1284800093	p.Ser626Asn	missense variant	-	NC_000001.11:g.43597811G>A	gnomAD
COSM4008262	p.Val628Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43597817T>C	NCI-TCGA Cosmic
rs769997975	p.Pro629Leu	missense variant	-	NC_000001.11:g.43597820C>T	ExAC,TOPMed,gnomAD
rs769997975	p.Pro629Arg	missense variant	-	NC_000001.11:g.43597820C>G	ExAC,TOPMed,gnomAD
rs763125381	p.Pro630Leu	missense variant	-	NC_000001.11:g.43597823C>T	ExAC,gnomAD
rs1235438684	p.Ala632Thr	missense variant	-	NC_000001.11:g.43597828G>A	gnomAD
rs1380180843	p.Asp633Ala	missense variant	-	NC_000001.11:g.43597832A>C	gnomAD
rs767699823	p.Asp633Asn	missense variant	-	NC_000001.11:g.43597831G>A	ExAC,TOPMed,gnomAD
rs777362958	p.Arg635His	missense variant	-	NC_000001.11:g.43597838G>A	ExAC,gnomAD
rs17849101	p.Arg635Cys	missense variant	-	NC_000001.11:g.43597837C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs777362958	p.Arg635Pro	missense variant	-	NC_000001.11:g.43597838G>C	ExAC,gnomAD
rs1332425527	p.Gly637Ser	missense variant	-	NC_000001.11:g.43597843G>A	gnomAD
rs369453577	p.Val638Ile	missense variant	-	NC_000001.11:g.43597846G>A	ESP,ExAC,TOPMed,gnomAD
COSM4008263	p.Thr640Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43597853C>G	NCI-TCGA Cosmic
rs745583010	p.Ser643Thr	missense variant	-	NC_000001.11:g.43597861T>A	ExAC,gnomAD
rs748539042	p.Val644Met	missense variant	-	NC_000001.11:g.43597864G>A	ExAC,TOPMed,gnomAD
rs1199674135	p.Tyr646Ter	stop gained	-	NC_000001.11:g.43597872C>A	TOPMed,gnomAD
rs770367017	p.Glu647Lys	missense variant	-	NC_000001.11:g.43597873G>A	ExAC,TOPMed,gnomAD
rs1204546117	p.Ala648Ser	missense variant	-	NC_000001.11:g.43597876G>T	gnomAD
rs749626324	p.Ala648Val	missense variant	-	NC_000001.11:g.43597877C>T	ExAC,gnomAD
rs1404810618	p.Val649Met	missense variant	-	NC_000001.11:g.43597879G>A	TOPMed
NCI-TCGA novel	p.Val649Leu	missense variant	-	NC_000001.11:g.43597879G>T	NCI-TCGA
rs759809563	p.Gly651Ser	missense variant	-	NC_000001.11:g.43597885G>A	ExAC,gnomAD
rs775642004	p.Glu652Lys	missense variant	-	NC_000001.11:g.43597888G>A	ExAC,TOPMed,gnomAD
rs1410767912	p.Asp653Gly	missense variant	-	NC_000001.11:g.43597892A>G	gnomAD
rs764113767	p.Arg654His	missense variant	-	NC_000001.11:g.43597895G>A	ExAC,TOPMed,gnomAD
rs572442326	p.Arg654Cys	missense variant	-	NC_000001.11:g.43597894C>T	1000Genomes,ExAC,gnomAD
rs572442326	p.Arg654Ser	missense variant	-	NC_000001.11:g.43597894C>A	1000Genomes,ExAC,gnomAD
rs1331614439	p.Gly655Glu	missense variant	-	NC_000001.11:g.43597898G>A	gnomAD
rs1331614439	p.Gly655Val	missense variant	-	NC_000001.11:g.43597898G>T	gnomAD
rs757114527	p.Gly655Arg	missense variant	-	NC_000001.11:g.43597897G>A	ExAC,TOPMed,gnomAD
rs985815285	p.Arg656Trp	missense variant	-	NC_000001.11:g.43597900C>T	TOPMed,gnomAD
rs1341268386	p.Arg656Gln	missense variant	-	NC_000001.11:g.43597901G>A	gnomAD
rs985815285	p.Arg656Gly	missense variant	-	NC_000001.11:g.43597900C>G	TOPMed,gnomAD
rs758076346	p.Val658Glu	missense variant	-	NC_000001.11:g.43597907T>A	ExAC,gnomAD
rs758076346	p.Val658Ala	missense variant	-	NC_000001.11:g.43597907T>C	ExAC,gnomAD
rs1218826343	p.Val658Met	missense variant	-	NC_000001.11:g.43597906G>A	TOPMed,gnomAD
rs1215039768	p.Val659Met	missense variant	-	NC_000001.11:g.43597909G>A	gnomAD
rs1254105738	p.Gly661Ser	missense variant	-	NC_000001.11:g.43597915G>A	gnomAD
rs1451571570	p.Ile662Val	missense variant	-	NC_000001.11:g.43597918A>G	gnomAD
rs779393774	p.Arg664Cys	missense variant	-	NC_000001.11:g.43597924C>T	ExAC,TOPMed,gnomAD
rs1253367699	p.Arg664His	missense variant	-	NC_000001.11:g.43597925G>A	TOPMed
rs779393774	p.Arg664Ser	missense variant	-	NC_000001.11:g.43597924C>A	ExAC,TOPMed,gnomAD
rs1054668971	p.Ser668Thr	missense variant	-	NC_000001.11:g.43597937G>C	TOPMed
rs17849102	p.Asp670Asn	missense variant	-	NC_000001.11:g.43597942G>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu671Met	missense variant	-	NC_000001.11:g.43597945C>A	NCI-TCGA
rs1463018567	p.Val672Leu	missense variant	-	NC_000001.11:g.43597948G>T	gnomAD
rs555258971	p.Glu675Lys	missense variant	-	NC_000001.11:g.43597957G>A	1000Genomes,ExAC,gnomAD
rs1386119775	p.Thr678Met	missense variant	-	NC_000001.11:g.43597967C>T	gnomAD
rs1327972182	p.Glu679Gln	missense variant	-	NC_000001.11:g.43597969G>C	gnomAD
rs1327972182	p.Glu679Lys	missense variant	-	NC_000001.11:g.43597969G>A	gnomAD
rs912268666	p.Arg681Trp	missense variant	-	NC_000001.11:g.43597975C>T	gnomAD
rs771269220	p.Arg681Gln	missense variant	-	NC_000001.11:g.43597976G>A	ExAC,TOPMed,gnomAD
rs746021731	p.Val682Leu	missense variant	-	NC_000001.11:g.43597978G>C	ExAC,TOPMed,gnomAD
rs1261619328	p.Trp683Ter	stop gained	-	NC_000001.11:g.43597983G>A	TOPMed
rs1223464697	p.Val684Gly	missense variant	-	NC_000001.11:g.43597985T>G	TOPMed
rs775382791	p.Arg685Gln	missense variant	-	NC_000001.11:g.43597988G>A	ExAC,TOPMed,gnomAD
rs144665293	p.Arg685Trp	missense variant	-	NC_000001.11:g.43597987C>T	ESP,ExAC,TOPMed,gnomAD
rs760786106	p.His687Arg	missense variant	-	NC_000001.11:g.43597994A>G	ExAC,gnomAD
rs201745531	p.Asp689His	missense variant	-	NC_000001.11:g.43597999G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs201745531	p.Asp689Tyr	missense variant	-	NC_000001.11:g.43597999G>T	1000Genomes,ExAC,TOPMed,gnomAD
COSM4818406	p.Asp689Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43597999G>A	NCI-TCGA Cosmic
rs761857102	p.Val690Met	missense variant	-	NC_000001.11:g.43598002G>A	ExAC,gnomAD
rs1456513017	p.Gly691Ala	missense variant	-	NC_000001.11:g.43598006G>C	gnomAD
NCI-TCGA novel	p.Gly691Arg	missense variant	-	NC_000001.11:g.43598005G>C	NCI-TCGA
rs1387060597	p.Pro692Ala	missense variant	-	NC_000001.11:g.43598008C>G	gnomAD
rs1297394345	p.Gly693Ser	missense variant	-	NC_000001.11:g.43598011G>A	gnomAD
NCI-TCGA novel	p.Pro694Leu	missense variant	-	NC_000001.11:g.43598015C>T	NCI-TCGA
rs1416223281	p.Glu695Lys	missense variant	-	NC_000001.11:g.43598017G>A	TOPMed,gnomAD
rs894516328	p.Ser697Asn	missense variant	-	NC_000001.11:g.43598024G>A	TOPMed
rs1339361196	p.Pro698Ser	missense variant	-	NC_000001.11:g.43598026C>T	gnomAD
rs1006220911	p.Pro698Leu	missense variant	-	NC_000001.11:g.43598027C>T	TOPMed,gnomAD
rs1267826004	p.Val699Met	missense variant	-	NC_000001.11:g.43598029G>A	gnomAD
rs1216281893	p.Val701Met	missense variant	-	NC_000001.11:g.43598035G>A	gnomAD
rs1216281893	p.Val701Leu	missense variant	-	NC_000001.11:g.43598035G>T	gnomAD
rs1284292923	p.Arg702Cys	missense variant	-	NC_000001.11:g.43598038C>T	gnomAD
rs1486879479	p.Arg702His	missense variant	-	NC_000001.11:g.43598039G>A	gnomAD
rs766035780	p.Asp704Asn	missense variant	-	NC_000001.11:g.43598044G>A	ExAC,TOPMed,gnomAD
rs1422069418	p.Asp704Glu	missense variant	-	NC_000001.11:g.43598046T>A	TOPMed,gnomAD
rs766035780	p.Asp704His	missense variant	-	NC_000001.11:g.43598044G>C	ExAC,TOPMed,gnomAD
rs1365430574	p.Val707Met	missense variant	-	NC_000001.11:g.43598053G>A	gnomAD
rs759127729	p.Pro708Leu	missense variant	-	NC_000001.11:g.43598723C>T	ExAC,gnomAD
rs757714695	p.Gly710Arg	missense variant	-	NC_000001.11:g.43598728G>A	ExAC,TOPMed,gnomAD
rs757714695	p.Gly710Trp	missense variant	-	NC_000001.11:g.43598728G>T	ExAC,TOPMed,gnomAD
rs1308563374	p.Arg713Gln	missense variant	-	NC_000001.11:g.43598738G>A	TOPMed,gnomAD
COSM6126673	p.Glu716Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.43598746G>T	NCI-TCGA Cosmic
rs780294143	p.Val717Leu	missense variant	-	NC_000001.11:g.43598749G>T	ExAC,TOPMed,gnomAD
rs1266369144	p.Val717Gly	missense variant	-	NC_000001.11:g.43598750T>G	gnomAD
NCI-TCGA novel	p.Glu718Asp	missense variant	-	NC_000001.11:g.43598754G>T	NCI-TCGA
rs1172354507	p.Pro719Thr	missense variant	-	NC_000001.11:g.43598755C>A	gnomAD
NCI-TCGA novel	p.Ala724Val	missense variant	-	NC_000001.11:g.43598771C>T	NCI-TCGA
rs1464586379	p.His726Arg	missense variant	-	NC_000001.11:g.43598777A>G	gnomAD
rs1167949818	p.Val727Ile	missense variant	-	NC_000001.11:g.43598779G>A	gnomAD
rs1352078594	p.Tyr728Ser	missense variant	-	NC_000001.11:g.43598783A>C	gnomAD
rs1361334730	p.Tyr728His	missense variant	-	NC_000001.11:g.43598782T>C	gnomAD
COSM4398830	p.Trp729Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.43598786G>A	NCI-TCGA Cosmic
rs769029754	p.Leu731Val	missense variant	-	NC_000001.11:g.43598791C>G	ExAC,gnomAD
rs564141034	p.Val733Ile	missense variant	-	NC_000001.11:g.43598797G>A	1000Genomes,ExAC,gnomAD
rs1384334912	p.Ser735Asn	missense variant	-	NC_000001.11:g.43598804G>A	gnomAD
NCI-TCGA novel	p.Ser735Arg	missense variant	-	NC_000001.11:g.43598805C>A	NCI-TCGA
NCI-TCGA novel	p.Lys736Glu	missense variant	-	NC_000001.11:g.43598806A>G	NCI-TCGA
rs1404378647	p.Gln740Arg	missense variant	-	NC_000001.11:g.43598819A>G	TOPMed
NCI-TCGA novel	p.Arg742Leu	missense variant	-	NC_000001.11:g.43598825G>T	NCI-TCGA
rs1202842302	p.Gly743Arg	missense variant	-	NC_000001.11:g.43598827G>C	gnomAD
rs762860244	p.Gln745His	missense variant	-	NC_000001.11:g.43598835G>C	ExAC,gnomAD
rs1216822839	p.Gln745Leu	missense variant	-	NC_000001.11:g.43598834A>T	gnomAD
rs770705836	p.Val746Ile	missense variant	-	NC_000001.11:g.43598836G>A	ExAC,gnomAD
rs774023984	p.Thr747Ile	missense variant	-	NC_000001.11:g.43598840C>T	ExAC,gnomAD
rs201048136	p.Val749Leu	missense variant	-	NC_000001.11:g.43598845G>T	ExAC,TOPMed,gnomAD
rs201048136	p.Val749Leu	missense variant	-	NC_000001.11:g.43598845G>C	ExAC,TOPMed,gnomAD
rs201048136	p.Val749Met	missense variant	-	NC_000001.11:g.43598845G>A	ExAC,TOPMed,gnomAD
rs752038331	p.Arg750Gln	missense variant	-	NC_000001.11:g.43598849G>A	ExAC,TOPMed,gnomAD
rs149070360	p.Glu752Lys	missense variant	-	NC_000001.11:g.43598854G>A	ESP,ExAC,gnomAD
rs201114915	p.Glu755Lys	missense variant	-	NC_000001.11:g.43598863G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs751890381	p.Pro756Leu	missense variant	-	NC_000001.11:g.43598867C>T	ExAC,TOPMed,gnomAD
rs755439618	p.Arg757Cys	missense variant	-	NC_000001.11:g.43598869C>T	ExAC,TOPMed,gnomAD
rs1252295013	p.Arg757His	missense variant	-	NC_000001.11:g.43598870G>A	TOPMed
COSM4008264	p.Gly758Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43598873G>A	NCI-TCGA Cosmic
rs1193658685	p.Leu759Phe	missense variant	-	NC_000001.11:g.43598875C>T	TOPMed
rs781530130	p.Pro760Ser	missense variant	-	NC_000001.11:g.43598878C>T	ExAC,gnomAD
rs370187541	p.Pro760Leu	missense variant	-	NC_000001.11:g.43598879C>T	ESP,ExAC,TOPMed,gnomAD
rs781530130	p.Pro760Ala	missense variant	-	NC_000001.11:g.43598878C>G	ExAC,gnomAD
rs749186153	p.Ile761Met	missense variant	-	NC_000001.11:g.43598883C>G	ExAC,gnomAD
rs373814583	p.Ile761Val	missense variant	-	NC_000001.11:g.43598881A>G	ESP,ExAC,TOPMed,gnomAD
rs770807749	p.Ile762Val	missense variant	-	NC_000001.11:g.43598884A>G	ExAC,TOPMed,gnomAD
rs770807749	p.Ile762Leu	missense variant	-	NC_000001.11:g.43598884A>C	ExAC,TOPMed,gnomAD
rs1326333643	p.Asp764Gly	missense variant	-	NC_000001.11:g.43598891A>G	TOPMed
rs377483278	p.Val765Ile	missense variant	-	NC_000001.11:g.43598893G>A	ESP,ExAC,TOPMed,gnomAD
rs775119587	p.Met766Leu	missense variant	-	NC_000001.11:g.43598896A>T	ExAC,gnomAD
rs775119587	p.Met766Val	missense variant	-	NC_000001.11:g.43598896A>G	ExAC,gnomAD
rs763592362	p.Ala768Gly	missense variant	-	NC_000001.11:g.43598903C>G	ExAC,gnomAD
rs763465884	p.Glu769Lys	missense variant	-	NC_000001.11:g.43598905G>A	ExAC,TOPMed,gnomAD
rs752144648	p.Ala770Val	missense variant	-	NC_000001.11:g.43598909C>T	ExAC,TOPMed,gnomAD
rs752144648	p.Ala770Gly	missense variant	-	NC_000001.11:g.43598909C>G	ExAC,TOPMed,gnomAD
rs766771427	p.Ala770Ser	missense variant	-	NC_000001.11:g.43598908G>T	ExAC,TOPMed,gnomAD
rs766771427	p.Ala770Pro	missense variant	-	NC_000001.11:g.43598908G>C	ExAC,TOPMed,gnomAD
rs760137603	p.Arg773Gln	missense variant	-	NC_000001.11:g.43602075G>A	ExAC,TOPMed,gnomAD
rs774981977	p.Arg773Trp	missense variant	-	NC_000001.11:g.43602074C>T	ExAC,TOPMed,gnomAD
rs1331891918	p.Glu775Gln	missense variant	-	NC_000001.11:g.43602080G>C	gnomAD
NCI-TCGA novel	p.Glu776Lys	missense variant	-	NC_000001.11:g.43602083G>A	NCI-TCGA
rs767930658	p.Ser777Phe	missense variant	-	NC_000001.11:g.43602087C>T	ExAC,gnomAD
rs1312803474	p.Glu778Lys	missense variant	-	NC_000001.11:g.43602089G>A	TOPMed,gnomAD
rs1312803474	p.Glu778Gln	missense variant	-	NC_000001.11:g.43602089G>C	TOPMed,gnomAD
rs1255710727	p.Asp779Val	missense variant	-	NC_000001.11:g.43602093A>T	TOPMed
rs1276421514	p.Tyr780His	missense variant	-	NC_000001.11:g.43602095T>C	gnomAD
rs750523020	p.Glu781Lys	missense variant	-	NC_000001.11:g.43603416G>A	ExAC,gnomAD
rs779932793	p.Thr782Ile	missense variant	-	NC_000001.11:g.43603420C>T	ExAC,gnomAD
rs370538618	p.Thr782Ala	missense variant	-	NC_000001.11:g.43603419A>G	ESP,ExAC,TOPMed,gnomAD
rs751561553	p.Thr783Ile	missense variant	-	NC_000001.11:g.43603423C>T	ExAC,gnomAD
rs201466491	p.Ile784Val	missense variant	-	NC_000001.11:g.43603425A>G	1000Genomes,TOPMed
rs754712346	p.Ser785Gly	missense variant	-	NC_000001.11:g.43603428A>G	ExAC,gnomAD
rs777222498	p.Ser785Arg	missense variant	-	NC_000001.11:g.43603430C>G	ExAC,TOPMed,gnomAD
rs747692299	p.Gly786Cys	missense variant	-	NC_000001.11:g.43603431G>T	ExAC,TOPMed,gnomAD
rs747692299	p.Gly786Ser	missense variant	-	NC_000001.11:g.43603431G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly786Asp	missense variant	-	NC_000001.11:g.43603432G>A	NCI-TCGA
rs1400192914	p.Thr788Ala	missense variant	-	NC_000001.11:g.43603437A>G	gnomAD
rs777372045	p.Thr788Ile	missense variant	-	NC_000001.11:g.43603438C>T	ExAC,TOPMed,gnomAD
rs1187179916	p.Pro789Gln	missense variant	-	NC_000001.11:g.43603441C>A	TOPMed,gnomAD
rs1043165223	p.Pro789Ser	missense variant	-	NC_000001.11:g.43603440C>T	TOPMed,gnomAD
rs1043165223	p.Pro789Ala	missense variant	-	NC_000001.11:g.43603440C>G	TOPMed,gnomAD
rs746393821	p.Glu790Asp	missense variant	-	NC_000001.11:g.43603445G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu790Ter	stop gained	-	NC_000001.11:g.43603443G>T	NCI-TCGA
rs1396097094	p.Ser794Phe	missense variant	-	NC_000001.11:g.43603456C>T	TOPMed
rs572629636	p.Val795Ile	missense variant	-	NC_000001.11:g.43603458G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs572629636	p.Val795Phe	missense variant	-	NC_000001.11:g.43603458G>T	1000Genomes,ExAC,TOPMed,gnomAD
COSM6063475	p.Tyr800Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43603474A>C	NCI-TCGA Cosmic
rs200312726	p.Thr802Ala	missense variant	-	NC_000001.11:g.43603479A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1216144298	p.Ala807Ser	missense variant	-	NC_000001.11:g.43603494G>T	gnomAD
rs1425563157	p.Arg808Cys	missense variant	-	NC_000001.11:g.43603497C>T	gnomAD
rs773461058	p.Arg808His	missense variant	-	NC_000001.11:g.43603498G>A	ExAC,TOPMed,gnomAD
rs763012613	p.Lys810Arg	missense variant	-	NC_000001.11:g.43603504A>G	ExAC,TOPMed,gnomAD
COSM3489980	p.Pro811Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43603506C>T	NCI-TCGA Cosmic
rs766501071	p.Pro811His	missense variant	-	NC_000001.11:g.43603507C>A	ExAC,gnomAD
rs766501071	p.Pro811Leu	missense variant	-	NC_000001.11:g.43603507C>T	ExAC,gnomAD
rs754943489	p.Ile813Met	missense variant	-	NC_000001.11:g.43603514T>G	ExAC,TOPMed,gnomAD
rs751390769	p.Ile813Thr	missense variant	-	NC_000001.11:g.43603513T>C	ExAC,gnomAD
rs1455058213	p.Val814Ile	missense variant	-	NC_000001.11:g.43603515G>A	TOPMed
rs1420141737	p.Gly818Asp	missense variant	-	NC_000001.11:g.43603528G>A	gnomAD
rs565543436	p.Arg823Gln	missense variant	-	NC_000001.11:g.43603620G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs565543436	p.Arg823Pro	missense variant	-	NC_000001.11:g.43603620G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs756975863	p.Arg823Trp	missense variant	-	NC_000001.11:g.43603619C>T	ExAC,gnomAD
rs756975863	p.Arg823Gly	missense variant	-	NC_000001.11:g.43603619C>G	ExAC,gnomAD
rs1378330342	p.Pro824Ser	missense variant	-	NC_000001.11:g.43603622C>T	gnomAD
rs757885367	p.Thr825Ala	missense variant	-	NC_000001.11:g.43603625A>G	ExAC,gnomAD
rs912770030	p.Met826Val	missense variant	-	NC_000001.11:g.43603628A>G	TOPMed
rs781719563	p.Thr830Ala	missense variant	-	NC_000001.11:g.43603640A>G	ExAC,gnomAD
rs367652888	p.Thr831Met	missense variant	-	NC_000001.11:g.43603644C>T	ESP,ExAC,gnomAD
rs928654396	p.Ala832Thr	missense variant	-	NC_000001.11:g.43603646G>A	TOPMed
rs749468850	p.Met833Val	missense variant	-	NC_000001.11:g.43603649A>G	ExAC,gnomAD
rs749468850	p.Met833Leu	missense variant	-	NC_000001.11:g.43603649A>T	ExAC,gnomAD
rs774490865	p.Met833Thr	missense variant	-	NC_000001.11:g.43603650T>C	ExAC,TOPMed,gnomAD
rs759632662	p.Met833Ile	missense variant	-	NC_000001.11:g.43603651G>A	ExAC,gnomAD
rs772113752	p.Thr835Ser	missense variant	-	NC_000001.11:g.43603656C>G	ExAC,gnomAD
rs775486548	p.Ala836Glu	missense variant	-	NC_000001.11:g.43603659C>A	ExAC,TOPMed,gnomAD
rs775486548	p.Ala836Val	missense variant	-	NC_000001.11:g.43603659C>T	ExAC,TOPMed,gnomAD
rs763916687	p.Leu838Val	missense variant	-	NC_000001.11:g.43603664C>G	ExAC,gnomAD
rs1400453918	p.Gln839Arg	missense variant	-	NC_000001.11:g.43603668A>G	gnomAD
rs1465532015	p.Pro842Ser	missense variant	-	NC_000001.11:g.43603676C>T	gnomAD
rs761748789	p.Lys844Arg	missense variant	-	NC_000001.11:g.43603683A>G	ExAC,gnomAD
NCI-TCGA novel	p.Glu845Gln	missense variant	-	NC_000001.11:g.43603685G>C	NCI-TCGA
rs757908835	p.Glu849Gly	missense variant	-	NC_000001.11:g.43603698A>G	ExAC,gnomAD
rs1343911174	p.Glu849Lys	missense variant	-	NC_000001.11:g.43603697G>A	TOPMed,gnomAD
rs1258769633	p.Leu850Pro	missense variant	-	NC_000001.11:g.43603701T>C	gnomAD
rs140594531	p.Arg854Gln	missense variant	-	NC_000001.11:g.43603713G>A	ESP,ExAC,TOPMed,gnomAD
rs1317417745	p.Arg854Trp	missense variant	-	NC_000001.11:g.43603712C>T	gnomAD
rs1308478616	p.Gln856Arg	missense variant	-	NC_000001.11:g.43603719A>G	TOPMed
rs756642128	p.Cys858Ser	missense variant	-	NC_000001.11:g.43603724T>A	ExAC,TOPMed,gnomAD
rs567638313	p.Arg859Leu	missense variant	-	NC_000001.11:g.43603728G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs567638313	p.Arg859Pro	missense variant	-	NC_000001.11:g.43603728G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs903248544	p.Arg859Trp	missense variant	-	NC_000001.11:g.43603727C>T	TOPMed,gnomAD
rs567638313	p.Arg859Gln	missense variant	-	NC_000001.11:g.43603728G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs779194364	p.Ala860Pro	missense variant	-	NC_000001.11:g.43603730G>C	ExAC,gnomAD
rs779194364	p.Ala860Thr	missense variant	-	NC_000001.11:g.43603730G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ala860Val	missense variant	-	NC_000001.11:g.43603731C>T	NCI-TCGA
rs1168878964	p.Asp861Glu	missense variant	-	NC_000001.11:g.43603735C>A	gnomAD
rs775437828	p.Asp861Asn	missense variant	-	NC_000001.11:g.43603733G>A	ExAC,gnomAD
rs536681179	p.Glu862Lys	missense variant	-	NC_000001.11:g.43603736G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs144536559	p.Ala863Val	missense variant	-	NC_000001.11:g.43603740C>T	ESP,ExAC,TOPMed,gnomAD
rs764998994	p.Arg864Gln	missense variant	-	NC_000001.11:g.43603743G>A	ExAC,TOPMed,gnomAD
rs761693767	p.Arg864Trp	missense variant	-	NC_000001.11:g.43603742C>T	ExAC,TOPMed,gnomAD
rs750031933	p.Asn866Asp	missense variant	-	NC_000001.11:g.43603748A>G	ExAC,TOPMed,gnomAD
rs556307288	p.Thr867Ser	missense variant	-	NC_000001.11:g.43603752C>G	1000Genomes,ExAC,gnomAD
rs1339921157	p.Thr867Ala	missense variant	-	NC_000001.11:g.43603751A>G	gnomAD
rs141782417	p.Ile868Val	missense variant	-	NC_000001.11:g.43603754A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1253788010	p.Asp869Gly	missense variant	-	NC_000001.11:g.43603758A>G	TOPMed
rs199942675	p.Asp869Glu	missense variant	-	NC_000001.11:g.43603759T>G	1000Genomes
rs751089120	p.Asp869Asn	missense variant	-	NC_000001.11:g.43603757G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp869Tyr	missense variant	-	NC_000001.11:g.43603757G>T	NCI-TCGA
rs778225680	p.Gly871Ser	missense variant	-	NC_000001.11:g.43603763G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly871Asp	missense variant	-	NC_000001.11:g.43603764G>A	NCI-TCGA
rs374488420	p.Asp873Ala	missense variant	-	NC_000001.11:g.43603770A>C	ESP,ExAC,TOPMed,gnomAD
rs374488420	p.Asp873Gly	missense variant	-	NC_000001.11:g.43603770A>G	ESP,ExAC,TOPMed,gnomAD
rs757630823	p.Asp873Asn	missense variant	-	NC_000001.11:g.43603769G>A	ExAC,TOPMed,gnomAD
rs758580532	p.Asp874Asn	missense variant	-	NC_000001.11:g.43603772G>A	ExAC,gnomAD
rs780471380	p.Asp874Val	missense variant	-	NC_000001.11:g.43603773A>T	ExAC,TOPMed,gnomAD
rs768921761	p.Gln875Ter	stop gained	-	NC_000001.11:g.43603775C>T	ExAC,gnomAD
rs776694646	p.Val879Ala	missense variant	-	NC_000001.11:g.43603788T>C	ExAC,gnomAD
rs748106240	p.Thr880Ser	missense variant	-	NC_000001.11:g.43603790A>T	ExAC,gnomAD
rs143833153	p.Gly881Ser	missense variant	-	NC_000001.11:g.43603793G>A	ESP,ExAC,TOPMed,gnomAD
rs1380026703	p.His883Gln	missense variant	-	NC_000001.11:g.43603801C>G	gnomAD
rs762614069	p.His883Arg	missense variant	-	NC_000001.11:g.43603800A>G	ExAC,TOPMed,gnomAD
rs1396031076	p.Lys884Asn	missense variant	-	NC_000001.11:g.43603804G>T	TOPMed
COSM4903403	p.Gly885Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43603806G>A	NCI-TCGA Cosmic
rs1386301338	p.Gly885Trp	missense variant	-	NC_000001.11:g.43603805G>T	TOPMed
rs1228814877	p.Thr886Ala	missense variant	-	NC_000001.11:g.43603808A>G	TOPMed,gnomAD
rs765928388	p.Thr887Ile	missense variant	-	NC_000001.11:g.43603812C>T	ExAC,gnomAD
NCI-TCGA novel	p.Tyr888Phe	missense variant	-	NC_000001.11:g.43603815A>T	NCI-TCGA
rs759047074	p.Ile889Val	missense variant	-	NC_000001.11:g.43603817A>G	ExAC,gnomAD
rs199570599	p.Arg891Gln	missense variant	-	NC_000001.11:g.43603824G>A	ESP,ExAC,TOPMed,gnomAD
rs767075536	p.Arg891Trp	missense variant	-	NC_000001.11:g.43603823C>T	ExAC,TOPMed,gnomAD
rs199570599	p.Arg891Leu	missense variant	-	NC_000001.11:g.43603824G>T	ESP,ExAC,TOPMed,gnomAD
rs767075536	p.Arg891Gly	missense variant	-	NC_000001.11:g.43603823C>G	ExAC,TOPMed,gnomAD
rs765598646	p.Ala894Thr	missense variant	-	NC_000001.11:g.43603832G>A	ExAC,gnomAD
rs1186558185	p.Asn896Lys	missense variant	-	NC_000001.11:g.43603840C>G	TOPMed
rs374013593	p.Arg897Gly	missense variant	-	NC_000001.11:g.43603841C>G	ESP,ExAC,TOPMed,gnomAD
rs374013593	p.Arg897Trp	missense variant	-	NC_000001.11:g.43603841C>T	ESP,ExAC,TOPMed,gnomAD
rs149018733	p.Arg897Gln	missense variant	-	NC_000001.11:g.43603842G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1183508834	p.Ala898Thr	missense variant	-	NC_000001.11:g.43603844G>A	gnomAD
rs780417996	p.Gly899Ser	missense variant	-	NC_000001.11:g.43603847G>A	ExAC,gnomAD
rs1215219655	p.Leu900Trp	missense variant	-	NC_000001.11:g.43603851T>G	TOPMed
rs747292574	p.Leu900Met	missense variant	-	NC_000001.11:g.43603850T>A	ExAC,gnomAD
rs921513300	p.Gly901Ser	missense variant	-	NC_000001.11:g.43603853G>A	gnomAD
rs1399141346	p.Glu902Gln	missense variant	-	NC_000001.11:g.43603856G>C	gnomAD
rs146318210	p.Phe904Leu	missense variant	-	NC_000001.11:g.43603864C>G	ESP,ExAC,TOPMed,gnomAD
rs146318210	p.Phe904Leu	missense variant	-	NC_000001.11:g.43603864C>A	ESP,ExAC,TOPMed,gnomAD
rs143093912	p.Glu905Gln	missense variant	-	NC_000001.11:g.43603865G>C	ESP,ExAC,gnomAD
rs143093912	p.Glu905Lys	missense variant	-	NC_000001.11:g.43603865G>A	ESP,ExAC,gnomAD
rs1452022275	p.Lys906Thr	missense variant	-	NC_000001.11:g.43603869A>C	gnomAD
rs773247312	p.Glu907Lys	missense variant	-	NC_000001.11:g.43603871G>A	ExAC,gnomAD
rs138034295	p.Glu912Lys	missense variant	-	NC_000001.11:g.43603886G>A	ESP
rs770780891	p.Glu912Ala	missense variant	-	NC_000001.11:g.43603887A>C	ExAC,gnomAD
rs1327537333	p.Leu914Met	missense variant	-	NC_000001.11:g.43603892C>A	TOPMed
rs1372400634	p.Gly917Ser	missense variant	-	NC_000001.11:g.43603901G>A	gnomAD
rs1221716037	p.Phe918Tyr	missense variant	-	NC_000001.11:g.43603905T>A	gnomAD
rs759204249	p.Gln920Arg	missense variant	-	NC_000001.11:g.43603911A>G	ExAC,TOPMed,gnomAD
COSM909872	p.Asn921Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43603915C>A	NCI-TCGA Cosmic
rs201215550	p.His923Arg	missense variant	-	NC_000001.11:g.43603920A>G	1000Genomes,gnomAD
rs1202491441	p.Thr925Ser	missense variant	-	NC_000001.11:g.43603925A>T	gnomAD
rs371676929	p.Thr929Met	missense variant	-	NC_000001.11:g.43603938C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu933Ter	stop gained	-	NC_000001.11:g.43603949G>T	NCI-TCGA
rs1162437393	p.Leu934Pro	missense variant	-	NC_000001.11:g.43603953T>C	TOPMed
rs765630159	p.Ala935Val	missense variant	-	NC_000001.11:g.43603956C>T	ExAC,gnomAD
rs758676706	p.Asp937Gly	missense variant	-	NC_000001.11:g.43603962A>G	ExAC,gnomAD
NCI-TCGA novel	p.Asp937Tyr	missense variant	-	NC_000001.11:g.43603961G>T	NCI-TCGA
rs200617199	p.Pro938Leu	missense variant	-	NC_000001.11:g.43603965C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1374746151	p.Pro938Thr	missense variant	-	NC_000001.11:g.43603964C>A	TOPMed
rs200457473	p.Leu941Val	missense variant	-	NC_000001.11:g.43603973C>G	ExAC,TOPMed,gnomAD
rs144156070	p.Ala942Val	missense variant	-	NC_000001.11:g.43603977C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM3489982	p.Arg944Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43603983G>A	NCI-TCGA Cosmic
rs368237069	p.Asn945Lys	missense variant	-	NC_000001.11:g.43603987C>A	ESP,ExAC,TOPMed,gnomAD
rs1439775308	p.Gly946Arg	missense variant	-	NC_000001.11:g.43603988G>A	TOPMed,gnomAD
rs749309238	p.Arg947Leu	missense variant	-	NC_000001.11:g.43603992G>T	ExAC,TOPMed
rs749309238	p.Arg947His	missense variant	-	NC_000001.11:g.43603992G>A	ExAC,TOPMed
rs372831256	p.Arg947Cys	missense variant	-	NC_000001.11:g.43603991C>T	ESP,ExAC,TOPMed,gnomAD
rs770658279	p.Ile949Val	missense variant	-	NC_000001.11:g.43603997A>G	ExAC,TOPMed,gnomAD
rs1319465451	p.Ser950Arg	missense variant	-	NC_000001.11:g.43604000A>C	gnomAD
rs1319465451	p.Ser950Gly	missense variant	-	NC_000001.11:g.43604000A>G	gnomAD
rs377187728	p.Ser950Thr	missense variant	-	NC_000001.11:g.43604001G>C	ESP,ExAC,TOPMed,gnomAD
rs531936522	p.Thr952Ile	missense variant	-	NC_000001.11:g.43604007C>T	1000Genomes,ExAC,gnomAD
rs763045167	p.Val953Met	missense variant	-	NC_000001.11:g.43604009G>A	ExAC,gnomAD
rs773533532	p.Val954Met	missense variant	-	NC_000001.11:g.43604012G>A	ExAC,gnomAD
rs141556963	p.Arg956Leu	missense variant	-	NC_000001.11:g.43604019G>T	ESP,TOPMed
rs141556963	p.Arg956Gln	missense variant	-	NC_000001.11:g.43604019G>A	ESP,TOPMed
rs967562018	p.Asp957His	missense variant	-	NC_000001.11:g.43604021G>C	TOPMed,gnomAD
rs763519084	p.Ile958Leu	missense variant	-	NC_000001.11:g.43604024A>C	ExAC,TOPMed,gnomAD
rs1168370988	p.Asn959Ser	missense variant	-	NC_000001.11:g.43604028A>G	TOPMed,gnomAD
rs1168370988	p.Asn959Ile	missense variant	-	NC_000001.11:g.43604028A>T	TOPMed,gnomAD
rs766805311	p.Gln962Ter	stop gained	-	NC_000001.11:g.43604036C>T	ExAC,gnomAD
rs1407965948	p.Gln962Arg	missense variant	-	NC_000001.11:g.43604037A>G	gnomAD
rs760025156	p.Glu963Ala	missense variant	-	NC_000001.11:g.43604040A>C	ExAC,TOPMed,gnomAD
rs751990346	p.Glu963Lys	missense variant	-	NC_000001.11:g.43604039G>A	ExAC,TOPMed,gnomAD
rs767813886	p.Thr968Met	missense variant	-	NC_000001.11:g.43604055C>T	ExAC,gnomAD
rs559214265	p.Thr969Ala	missense variant	-	NC_000001.11:g.43604057A>G	1000Genomes,ExAC,gnomAD
rs1230582995	p.Asp970Glu	missense variant	-	NC_000001.11:g.43604062C>A	gnomAD
NCI-TCGA novel	p.Asp970His	missense variant	-	NC_000001.11:g.43604060G>C	NCI-TCGA
rs753655848	p.Arg972Leu	missense variant	-	NC_000001.11:g.43604067G>T	ExAC,TOPMed,gnomAD
rs753655848	p.Arg972His	missense variant	-	NC_000001.11:g.43604067G>A	ExAC,TOPMed,gnomAD
rs150944733	p.Arg972Cys	missense variant	-	NC_000001.11:g.43604066C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs369570389	p.Gly977Asp	missense variant	-	NC_000001.11:g.43604082G>A	ESP,ExAC,TOPMed,gnomAD
rs778630314	p.Asp981Gly	missense variant	-	NC_000001.11:g.43604094A>G	ExAC,gnomAD
rs942033991	p.Thr982Ala	missense variant	-	NC_000001.11:g.43604096A>G	TOPMed,gnomAD
rs771919313	p.Thr983Ala	missense variant	-	NC_000001.11:g.43604099A>G	ExAC,TOPMed,gnomAD
rs771919313	p.Thr983Ser	missense variant	-	NC_000001.11:g.43604099A>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr983Ile	missense variant	-	NC_000001.11:g.43604100C>T	NCI-TCGA
rs150026558	p.Asp985Asn	missense variant	-	NC_000001.11:g.43604105G>A	ESP,ExAC,TOPMed,gnomAD
rs150026558	p.Asp985His	missense variant	-	NC_000001.11:g.43604105G>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp985Val	missense variant	-	NC_000001.11:g.43604106A>T	NCI-TCGA
rs776232578	p.Ile986Thr	missense variant	-	NC_000001.11:g.43604109T>C	ExAC,gnomAD
rs763500218	p.Lys987Arg	missense variant	-	NC_000001.11:g.43604112A>G	ExAC,gnomAD
rs1382248110	p.Arg989Ser	missense variant	-	NC_000001.11:g.43604117C>A	gnomAD
rs548061948	p.Arg989His	missense variant	-	NC_000001.11:g.43604118G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1382248110	p.Arg989Cys	missense variant	-	NC_000001.11:g.43604117C>T	gnomAD
rs759978013	p.Ala990Ser	missense variant	-	NC_000001.11:g.43604120G>T	ExAC,TOPMed,gnomAD
rs759978013	p.Ala990Thr	missense variant	-	NC_000001.11:g.43604120G>A	ExAC,TOPMed,gnomAD
rs1316424363	p.Ser993Arg	missense variant	-	NC_000001.11:g.43604129A>C	gnomAD
rs767986292	p.Gly995Val	missense variant	-	NC_000001.11:g.43604136G>T	ExAC,gnomAD
rs142730107	p.Ser996Tyr	missense variant	-	NC_000001.11:g.43604139C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs142730107	p.Ser996Phe	missense variant	-	NC_000001.11:g.43604139C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1336043622	p.Pro998Ala	missense variant	-	NC_000001.11:g.43604144C>G	TOPMed
rs760959754	p.Pro1001Ser	missense variant	-	NC_000001.11:g.43604153C>T	ExAC,gnomAD
rs1204814396	p.Ser1002Gly	missense variant	-	NC_000001.11:g.43604156A>G	gnomAD
rs764041935	p.Arg1006Trp	missense variant	-	NC_000001.11:g.43604168C>T	ExAC,TOPMed,gnomAD
rs372819126	p.Arg1006Gln	missense variant	-	NC_000001.11:g.43604169G>A	1000Genomes,ESP,ExAC,gnomAD
rs890253672	p.Pro1009Ser	missense variant	-	NC_000001.11:g.43604177C>T	TOPMed,gnomAD
rs890253672	p.Pro1009Thr	missense variant	-	NC_000001.11:g.43604177C>A	TOPMed,gnomAD
rs765129553	p.Pro1009Leu	missense variant	-	NC_000001.11:g.43604178C>T	ExAC,gnomAD
rs758129822	p.Val1010Leu	missense variant	-	NC_000001.11:g.43604180G>T	ExAC,TOPMed,gnomAD
rs758129822	p.Val1010Met	missense variant	-	NC_000001.11:g.43604180G>A	ExAC,TOPMed,gnomAD
COSM909874	p.Gln1012Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43604187A>G	NCI-TCGA Cosmic
rs776774997	p.Lys1016Glu	missense variant	-	NC_000001.11:g.43604911A>G	ExAC,gnomAD
rs373189867	p.Lys1016Arg	missense variant	-	NC_000001.11:g.43604912A>G	ESP,ExAC,TOPMed,gnomAD
rs376126555	p.Arg1019Gln	missense variant	-	NC_000001.11:g.43604921G>A	ESP,ExAC,TOPMed,gnomAD
rs1479176471	p.Arg1019Gly	missense variant	-	NC_000001.11:g.43604920C>G	TOPMed,gnomAD
rs1479176471	p.Arg1019Trp	missense variant	-	NC_000001.11:g.43604920C>T	TOPMed,gnomAD
rs147874335	p.Ala1021Val	missense variant	-	NC_000001.11:g.43604927C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs147874335	p.Ala1021Glu	missense variant	-	NC_000001.11:g.43604927C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1296789107	p.Ala1021Thr	missense variant	-	NC_000001.11:g.43604926G>A	TOPMed,gnomAD
rs767435818	p.Met1024Thr	missense variant	-	NC_000001.11:g.43604936T>C	ExAC,TOPMed,gnomAD
rs1236358043	p.Lys1025Asn	missense variant	-	NC_000001.11:g.43604940G>C	gnomAD
rs752333602	p.Thr1026Arg	missense variant	-	NC_000001.11:g.43604942C>G	ExAC,TOPMed,gnomAD
rs752333602	p.Thr1026Met	missense variant	-	NC_000001.11:g.43604942C>T	ExAC,TOPMed,gnomAD
rs753377322	p.Glu1033Lys	missense variant	-	NC_000001.11:g.43604962G>A	ExAC,TOPMed,gnomAD
rs753377322	p.Glu1033Gln	missense variant	-	NC_000001.11:g.43604962G>C	ExAC,TOPMed,gnomAD
rs1203710565	p.Val1034Ala	missense variant	-	NC_000001.11:g.43604966T>C	TOPMed
rs1226668425	p.Val1034Phe	missense variant	-	NC_000001.11:g.43604965G>T	gnomAD
COSM681270	p.Pro1035Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43604968C>G	NCI-TCGA Cosmic
rs780607373	p.Asp1036Asn	missense variant	-	NC_000001.11:g.43604971G>A	ExAC,gnomAD
rs1489613514	p.Tyr1038Asn	missense variant	-	NC_000001.11:g.43604977T>A	gnomAD
rs768996333	p.Tyr1038Cys	missense variant	-	NC_000001.11:g.43604978A>G	ExAC,TOPMed,gnomAD
rs1428406780	p.Ala1041Ser	missense variant	-	NC_000001.11:g.43604986G>T	gnomAD
rs1169040424	p.Ala1041Val	missense variant	-	NC_000001.11:g.43604987C>T	gnomAD
rs1387459525	p.Pro1043Ser	missense variant	-	NC_000001.11:g.43604992C>T	gnomAD
rs996563431	p.Leu1047Val	missense variant	-	NC_000001.11:g.43605193C>G	TOPMed
rs749482455	p.Asn1049His	missense variant	-	NC_000001.11:g.43605199A>C	ExAC,gnomAD
rs1336067113	p.Gly1050Glu	missense variant	-	NC_000001.11:g.43605203G>A	gnomAD
rs1470249056	p.Gly1050Arg	missense variant	-	NC_000001.11:g.43605202G>A	gnomAD
COSM4837999	p.Gln1051His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43605207G>C	NCI-TCGA Cosmic
rs774328700	p.Gln1051His	missense variant	-	NC_000001.11:g.43605207G>T	ExAC,TOPMed,gnomAD
rs1226243678	p.Val1053Met	missense variant	-	NC_000001.11:g.43605211G>A	TOPMed,gnomAD
rs372260512	p.Val1055Leu	missense variant	-	NC_000001.11:g.43605217G>T	ESP,ExAC,TOPMed,gnomAD
rs372260512	p.Val1055Met	missense variant	-	NC_000001.11:g.43605217G>A	ESP,ExAC,TOPMed,gnomAD
rs775609904	p.Asp1056Val	missense variant	-	NC_000001.11:g.43605221A>T	ExAC,gnomAD
rs776291761	p.Gly1057Glu	missense variant	-	NC_000001.11:g.43605224G>A	ExAC,TOPMed,gnomAD
rs764039671	p.Gly1057Arg	missense variant	-	NC_000001.11:g.43605223G>A	ExAC,gnomAD
rs761400999	p.Ser1059Leu	missense variant	-	NC_000001.11:g.43605230C>T	ExAC,TOPMed,gnomAD
rs1479762337	p.Met1060Val	missense variant	-	NC_000001.11:g.43605232A>G	gnomAD
rs562011415	p.Arg1061Gln	missense variant	-	NC_000001.11:g.43605236G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs571838340	p.Arg1061Trp	missense variant	-	NC_000001.11:g.43605235C>T	ExAC,gnomAD
rs185189309	p.Lys1062Arg	missense variant	-	NC_000001.11:g.43605239A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs937549257	p.Ile1064Val	missense variant	-	NC_000001.11:g.43605244A>G	TOPMed,gnomAD
rs749489783	p.Ala1065Thr	missense variant	-	NC_000001.11:g.43605247G>A	ExAC,gnomAD
rs138775864	p.Gln1068Arg	missense variant	-	NC_000001.11:g.43605257A>G	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Pro1069Leu	missense variant	-	NC_000001.11:g.43605260C>T	NCI-TCGA
NCI-TCGA novel	p.Pro1069Ala	missense variant	-	NC_000001.11:g.43605259C>G	NCI-TCGA
rs1345537230	p.Thr1071Ala	missense variant	-	NC_000001.11:g.43605265A>G	gnomAD
rs1222402946	p.Thr1071Arg	missense variant	-	NC_000001.11:g.43605266C>G	gnomAD
rs201157421	p.Glu1072Lys	missense variant	-	NC_000001.11:g.43605268G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1309209393	p.Glu1072Val	missense variant	-	NC_000001.11:g.43605269A>T	TOPMed
rs201157421	p.Glu1072Gln	missense variant	-	NC_000001.11:g.43605268G>C	1000Genomes,ExAC,TOPMed,gnomAD
COSM464661	p.Ser1074Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43605275C>G	NCI-TCGA Cosmic
rs772345902	p.Ser1074Leu	missense variant	-	NC_000001.11:g.43605275C>T	ExAC,gnomAD
rs746959174	p.Val1076Glu	missense variant	-	NC_000001.11:g.43605281T>A	ExAC,gnomAD
COSM3489987	p.Met1078Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43605288G>A	NCI-TCGA Cosmic
rs1269874113	p.Met1078Val	missense variant	-	NC_000001.11:g.43605286A>G	gnomAD
rs1169752499	p.Arg1080His	missense variant	-	NC_000001.11:g.43605293G>A	TOPMed
rs776311252	p.Arg1080Cys	missense variant	-	NC_000001.11:g.43605292C>T	ExAC,TOPMed,gnomAD
rs761716835	p.Ser1082Arg	missense variant	-	NC_000001.11:g.43605300C>A	ExAC,TOPMed,gnomAD
rs764765679	p.Ser1083Gly	missense variant	-	NC_000001.11:g.43605301A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala1084Ser	missense variant	-	NC_000001.11:g.43605304G>T	NCI-TCGA
rs1446354822	p.Gly1086Ala	missense variant	-	NC_000001.11:g.43605311G>C	TOPMed,gnomAD
NCI-TCGA novel	p.Gly1086Asp	missense variant	-	NC_000001.11:g.43605311G>A	NCI-TCGA
rs374873502	p.Arg1094Ser	missense variant	-	NC_000001.11:g.43605334C>A	ESP,ExAC,TOPMed,gnomAD
rs1427598531	p.Arg1094Leu	missense variant	-	NC_000001.11:g.43605335G>T	gnomAD
rs374873502	p.Arg1094Cys	missense variant	-	NC_000001.11:g.43605334C>T	ESP,ExAC,TOPMed,gnomAD
rs1427598531	p.Arg1094His	missense variant	-	NC_000001.11:g.43605335G>A	gnomAD
NCI-TCGA novel	p.Thr1095Pro	missense variant	-	NC_000001.11:g.43605337A>C	NCI-TCGA
rs1365828057	p.Ala1096Val	missense variant	-	NC_000001.11:g.43605341C>T	gnomAD
rs1052391678	p.Asp1098Ala	missense variant	-	NC_000001.11:g.43605347A>C	gnomAD
rs369561113	p.Asp1098Asn	missense variant	-	NC_000001.11:g.43605346G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp1098Tyr	missense variant	-	NC_000001.11:g.43605346G>T	NCI-TCGA
rs1270142418	p.Pro1101Leu	missense variant	-	NC_000001.11:g.43605356C>T	gnomAD
rs1340394688	p.His1102Tyr	missense variant	-	NC_000001.11:g.43605358C>T	gnomAD
rs1292713576	p.His1102Gln	missense variant	-	NC_000001.11:g.43605360C>A	gnomAD
rs908069420	p.His1102Arg	missense variant	-	NC_000001.11:g.43605359A>G	TOPMed,gnomAD
rs756648293	p.Pro1104Leu	missense variant	-	NC_000001.11:g.43605365C>T	ExAC,TOPMed,gnomAD
rs556597635	p.Pro1106Ala	missense variant	-	NC_000001.11:g.43605370C>G	TOPMed,gnomAD
rs1040485073	p.Pro1106His	missense variant	-	NC_000001.11:g.43605371C>A	TOPMed
rs1193744322	p.Ser1108Phe	missense variant	-	NC_000001.11:g.43605377C>T	gnomAD
rs1241454644	p.Ala1109Thr	missense variant	-	NC_000001.11:g.43605379G>A	TOPMed,gnomAD
rs922030109	p.Tyr1110Cys	missense variant	-	NC_000001.11:g.43605383A>G	TOPMed
rs754133916	p.Ile1111Val	missense variant	-	NC_000001.11:g.43605385A>G	ExAC,TOPMed,gnomAD
rs1466581866	p.Asp1113Gly	missense variant	-	NC_000001.11:g.43605392A>G	TOPMed
rs746151545	p.Gly1114Ser	missense variant	-	NC_000001.11:g.43605394G>A	ExAC,TOPMed,gnomAD
rs1470313594	p.Gly1114Asp	missense variant	-	NC_000001.11:g.43605395G>A	gnomAD
rs780287442	p.Arg1115His	missense variant	-	NC_000001.11:g.43605398G>A	ExAC,TOPMed,gnomAD
rs758496561	p.Arg1115Cys	missense variant	-	NC_000001.11:g.43605397C>T	ExAC,TOPMed,gnomAD
rs372991117	p.Asp1117Asn	missense variant	-	NC_000001.11:g.43605403G>A	ESP,ExAC,TOPMed,gnomAD
rs372991117	p.Asp1117Tyr	missense variant	-	NC_000001.11:g.43605403G>T	ESP,ExAC,TOPMed,gnomAD
rs147294972	p.Met1120Val	missense variant	-	NC_000001.11:g.43605412A>G	ESP,ExAC,gnomAD
rs147294972	p.Met1120Leu	missense variant	-	NC_000001.11:g.43605412A>T	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Met1120Thr	missense variant	-	NC_000001.11:g.43605413T>C	NCI-TCGA
rs1249672058	p.Pro1121Ser	missense variant	-	NC_000001.11:g.43605415C>T	TOPMed
rs1316134423	p.His1122Tyr	missense variant	-	NC_000001.11:g.43605418C>T	gnomAD
rs1052346675	p.Val1123Met	missense variant	-	NC_000001.11:g.43605421G>A	TOPMed,gnomAD
rs1052346675	p.Val1123Leu	missense variant	-	NC_000001.11:g.43605421G>T	TOPMed,gnomAD
rs762596997	p.Gln1124His	missense variant	-	NC_000001.11:g.43605426A>C	ExAC,gnomAD
rs144922906	p.Ser1127Leu	missense variant	-	NC_000001.11:g.43605434C>T	ESP,ExAC,TOPMed,gnomAD
rs754439849	p.Leu1128Phe	missense variant	-	NC_000001.11:g.43605436C>T	ExAC,gnomAD
rs762075103	p.Leu1128Pro	missense variant	-	NC_000001.11:g.43605437T>C	ExAC,TOPMed,gnomAD
rs1433877718	p.Val1129Ile	missense variant	-	NC_000001.11:g.43605439G>A	gnomAD
rs1177703423	p.Trp1131Arg	missense variant	-	NC_000001.11:g.43605530T>C	gnomAD
rs754954516	p.Phe1132Leu	missense variant	-	NC_000001.11:g.43605535C>A	ExAC,gnomAD
rs751794621	p.Val1135Ala	missense variant	-	NC_000001.11:g.43605543T>C	TOPMed
COSM6126671	p.Val1136Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43605545G>T	NCI-TCGA Cosmic
rs1449609779	p.Val1137Ala	missense variant	-	NC_000001.11:g.43605549T>C	gnomAD
rs1300227430	p.Val1137Met	missense variant	-	NC_000001.11:g.43605548G>A	gnomAD
rs749053302	p.Ile1139Phe	missense variant	-	NC_000001.11:g.43605554A>T	ExAC,gnomAD
rs749053302	p.Ile1139Val	missense variant	-	NC_000001.11:g.43605554A>G	ExAC,gnomAD
rs778528006	p.Asp1140Glu	missense variant	-	NC_000001.11:g.43605559C>G	ExAC,gnomAD
rs778528006	p.Asp1140Glu	missense variant	-	NC_000001.11:g.43605559C>A	ExAC,gnomAD
rs568722457	p.Arg1141His	missense variant	-	NC_000001.11:g.43605561G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs568722457	p.Arg1141Leu	missense variant	-	NC_000001.11:g.43605561G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs367745532	p.Arg1141Cys	missense variant	-	NC_000001.11:g.43605560C>T	ESP,ExAC,TOPMed,gnomAD
rs182011131	p.Gly1144Arg	missense variant	-	NC_000001.11:g.43605569G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM681267	p.Gly1144Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43605570G>T	NCI-TCGA Cosmic
rs781399271	p.Gly1144Glu	missense variant	-	NC_000001.11:g.43605570G>A	ExAC,gnomAD
rs1293888921	p.Ser1145Gly	missense variant	-	NC_000001.11:g.43605572A>G	TOPMed
rs368161767	p.Met1146Val	missense variant	-	NC_000001.11:g.43605575A>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu1147Pro	missense variant	-	NC_000001.11:g.43605579T>C	NCI-TCGA
rs1199546067	p.Thr1148Ser	missense variant	-	NC_000001.11:g.43605581A>T	gnomAD
rs774648724	p.Thr1148Met	missense variant	-	NC_000001.11:g.43605582C>T	ExAC,TOPMed,gnomAD
rs767444947	p.Pro1149Leu	missense variant	-	NC_000001.11:g.43605585C>T	ExAC,gnomAD
rs1373936203	p.Arg1150Ser	missense variant	-	NC_000001.11:g.43605589G>C	gnomAD
rs935298487	p.Arg1150Lys	missense variant	-	NC_000001.11:g.43605588G>A	TOPMed,gnomAD
rs1429515335	p.Trp1151Arg	missense variant	-	NC_000001.11:g.43605590T>C	gnomAD
rs752802502	p.Ser1152Gly	missense variant	-	NC_000001.11:g.43605593A>G	ExAC,gnomAD
rs756190030	p.Thr1153Ile	missense variant	-	NC_000001.11:g.43605597C>T	ExAC,gnomAD
rs764015900	p.Pro1154Leu	missense variant	-	NC_000001.11:g.43605600C>T	ExAC,gnomAD
rs1405832871	p.Pro1154Ala	missense variant	-	NC_000001.11:g.43605599C>G	gnomAD
rs199816949	p.Glu1155Lys	missense variant	-	NC_000001.11:g.43605602G>A	ESP,ExAC,TOPMed,gnomAD
rs745474278	p.Glu1155Gly	missense variant	-	NC_000001.11:g.43605603A>G	ExAC,gnomAD
rs1427552012	p.Glu1156Gly	missense variant	-	NC_000001.11:g.43605606A>G	TOPMed
COSM6126669	p.Glu1158Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43605613G>T	NCI-TCGA Cosmic
rs779610758	p.Leu1159Gln	missense variant	-	NC_000001.11:g.43605615T>A	ExAC,TOPMed,gnomAD
rs779610758	p.Leu1159Pro	missense variant	-	NC_000001.11:g.43605615T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu1159Met	missense variant	-	NC_000001.11:g.43605614C>A	NCI-TCGA
rs780748743	p.Asp1160Asn	missense variant	-	NC_000001.11:g.43605617G>A	gnomAD
rs550783962	p.Glu1161Lys	missense variant	-	NC_000001.11:g.43605620G>A	1000Genomes,ExAC,gnomAD
rs1183169145	p.Ala1165Thr	missense variant	-	NC_000001.11:g.43606249G>A	gnomAD
rs768685317	p.Ile1166Met	missense variant	-	NC_000001.11:g.43606254C>G	ExAC,TOPMed,gnomAD
rs373597673	p.Glu1167Gln	missense variant	-	NC_000001.11:g.43606255G>C	ESP,ExAC,TOPMed,gnomAD
rs761933077	p.Glu1167Asp	missense variant	-	NC_000001.11:g.43606257G>C	ExAC,TOPMed,gnomAD
rs1209891475	p.Glu1167Val	missense variant	-	NC_000001.11:g.43606256A>T	gnomAD
rs373597673	p.Glu1167Lys	missense variant	-	NC_000001.11:g.43606255G>A	ESP,ExAC,TOPMed,gnomAD
rs765214291	p.Gln1168His	missense variant	-	NC_000001.11:g.43606260A>T	ExAC,TOPMed,gnomAD
rs750382273	p.Gly1169Asp	missense variant	-	NC_000001.11:g.43606262G>A	ExAC,TOPMed,gnomAD
rs766088168	p.Gly1170Arg	missense variant	-	NC_000001.11:g.43606264G>A	ExAC,gnomAD
COSM4836094	p.Glu1171Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43606267G>C	NCI-TCGA Cosmic
rs540407495	p.Glu1171Lys	missense variant	-	NC_000001.11:g.43606267G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1469140370	p.Glu1172Gly	missense variant	-	NC_000001.11:g.43606271A>G	TOPMed
rs754700311	p.Gln1173Ter	stop gained	-	NC_000001.11:g.43606273C>T	ExAC,gnomAD
rs1041522982	p.Gln1173Arg	missense variant	-	NC_000001.11:g.43606274A>G	TOPMed
rs754700311	p.Gln1173Glu	missense variant	-	NC_000001.11:g.43606273C>G	ExAC,gnomAD
rs549143666	p.Arg1174Trp	missense variant	-	NC_000001.11:g.43606276C>T	ExAC,TOPMed,gnomAD
rs377569778	p.Arg1174Gln	missense variant	-	NC_000001.11:g.43606277G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200483026	p.Arg1175Gln	missense variant	-	NC_000001.11:g.43606280G>A	ExAC,TOPMed,gnomAD
rs755754272	p.Arg1175Trp	missense variant	-	NC_000001.11:g.43606279C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg1175Pro	missense variant	-	NC_000001.11:g.43606280G>C	NCI-TCGA
rs368885602	p.Arg1176Trp	missense variant	-	NC_000001.11:g.43606282C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs772418794	p.Arg1176Gln	missense variant	-	NC_000001.11:g.43606283G>A	ExAC,TOPMed,gnomAD
rs369419270	p.Arg1177Trp	missense variant	-	NC_000001.11:g.43606285C>T	ESP,ExAC,TOPMed,gnomAD
rs202117609	p.Arg1177Gln	missense variant	-	NC_000001.11:g.43606286G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs140315523	p.Arg1178Gln	missense variant	-	NC_000001.11:g.43606289G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs768846692	p.Arg1178Trp	missense variant	-	NC_000001.11:g.43606288C>T	ExAC,TOPMed,gnomAD
rs1309641384	p.Gln1179Arg	missense variant	-	NC_000001.11:g.43606292A>G	gnomAD
rs1315505195	p.Glu1181Lys	missense variant	-	NC_000001.11:g.43606297G>A	gnomAD
rs1037410695	p.Arg1182Cys	missense variant	-	NC_000001.11:g.43606300C>T	TOPMed,gnomAD
rs138093418	p.Arg1182His	missense variant	-	NC_000001.11:g.43606301G>A	ESP,ExAC,TOPMed,gnomAD
rs530770514	p.Leu1183Val	missense variant	-	NC_000001.11:g.43606303C>G	1000Genomes,ExAC,gnomAD
rs775642672	p.Lys1184Arg	missense variant	-	NC_000001.11:g.43606307A>G	ExAC,TOPMed,gnomAD
rs766148161	p.Pro1185Gln	missense variant	-	NC_000001.11:g.43606310C>A	ExAC,TOPMed,gnomAD
rs766148161	p.Pro1185Leu	missense variant	-	NC_000001.11:g.43606310C>T	ExAC,TOPMed,gnomAD
rs759442309	p.Ala1188Ser	missense variant	-	NC_000001.11:g.43606318G>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala1189Thr	missense variant	-	NC_000001.11:g.43606321G>A	NCI-TCGA
rs752458078	p.Leu1191Met	missense variant	-	NC_000001.11:g.43606327C>A	ExAC,gnomAD
rs755593552	p.Asp1192Asn	missense variant	-	NC_000001.11:g.43606330G>A	ExAC,TOPMed,gnomAD
rs763517386	p.Val1193Met	missense variant	-	NC_000001.11:g.43606333G>A	ExAC,TOPMed,gnomAD
rs150503655	p.Leu1194Pro	missense variant	-	NC_000001.11:g.43606337T>C	ESP,TOPMed
rs748552530	p.Pro1195Leu	missense variant	-	NC_000001.11:g.43606340C>T	ExAC,TOPMed,gnomAD
rs748370657	p.Thr1199Ile	missense variant	-	NC_000001.11:g.43606352C>T	ExAC,gnomAD
rs1292584776	p.Leu1200Val	missense variant	-	NC_000001.11:g.43606354T>G	gnomAD
rs1451115204	p.Asp1202Asn	missense variant	-	NC_000001.11:g.43606360G>A	gnomAD
rs200885607	p.Asn1205Ser	missense variant	-	NC_000001.11:g.43606370A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs368723795	p.Arg1207Trp	missense variant	-	NC_000001.11:g.43606375C>T	ESP,ExAC,TOPMed,gnomAD
rs770740453	p.Arg1207Gln	missense variant	-	NC_000001.11:g.43606376G>A	ExAC,TOPMed,gnomAD
rs774497940	p.Gly1208Asp	missense variant	-	NC_000001.11:g.43606379G>A	ExAC,gnomAD
rs1460405185	p.Tyr1210His	missense variant	-	NC_000001.11:g.43606384T>C	gnomAD
rs201150809	p.Arg1212Trp	missense variant	-	NC_000001.11:g.43606390C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs376364770	p.Arg1212Gln	missense variant	-	NC_000001.11:g.43606391G>A	ESP,ExAC,TOPMed,gnomAD
rs753268231	p.Ser1215Phe	missense variant	-	NC_000001.11:g.43606400C>T	ExAC,gnomAD
rs566920391	p.Pro1216Leu	missense variant	-	NC_000001.11:g.43606403C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs200603784	p.Asp1217His	missense variant	-	NC_000001.11:g.43606405G>C	1000Genomes,ExAC,gnomAD
rs755264682	p.Tyr1220His	missense variant	-	NC_000001.11:g.43606414T>C	ExAC,TOPMed,gnomAD
rs748351910	p.Val1224Met	missense variant	-	NC_000001.11:g.43606426G>A	ExAC,gnomAD
rs1286475973	p.Ala1226Thr	missense variant	-	NC_000001.11:g.43606432G>A	gnomAD
rs1466179412	p.Ser1227Pro	missense variant	-	NC_000001.11:g.43606435T>C	gnomAD
rs1209338659	p.Pro1231Ala	missense variant	-	NC_000001.11:g.43606447C>G	gnomAD
rs1209338659	p.Pro1231Ser	missense variant	-	NC_000001.11:g.43606447C>T	gnomAD
rs984033281	p.Pro1231Leu	missense variant	-	NC_000001.11:g.43606448C>T	TOPMed,gnomAD
rs778093838	p.Met1232Leu	missense variant	-	NC_000001.11:g.43606450A>T	ExAC,gnomAD
rs199504853	p.Met1232Thr	missense variant	-	NC_000001.11:g.43606451T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs771102511	p.Asp1233Asn	missense variant	-	NC_000001.11:g.43606453G>A	ExAC,gnomAD
rs774375134	p.Asp1233Glu	missense variant	-	NC_000001.11:g.43606455C>G	ExAC,gnomAD
rs928942520	p.Arg1236Cys	missense variant	-	NC_000001.11:g.43606817C>T	TOPMed,gnomAD
rs772686657	p.Arg1236Leu	missense variant	-	NC_000001.11:g.43606818G>T	ExAC,TOPMed,gnomAD
rs772686657	p.Arg1236His	missense variant	-	NC_000001.11:g.43606818G>A	ExAC,TOPMed,gnomAD
rs928942520	p.Arg1236Ser	missense variant	-	NC_000001.11:g.43606817C>A	TOPMed,gnomAD
rs1307184836	p.Tyr1237His	missense variant	-	NC_000001.11:g.43606820T>C	TOPMed,gnomAD
rs199960147	p.Ala1238Thr	missense variant	-	NC_000001.11:g.43606823G>A	ESP,ExAC,TOPMed,gnomAD
rs768005889	p.Ser1239Pro	missense variant	-	NC_000001.11:g.43606826T>C	ExAC,gnomAD
NCI-TCGA novel	p.Ser1239Phe	missense variant	-	NC_000001.11:g.43606827C>T	NCI-TCGA
rs753303584	p.Tyr1242Ter	stop gained	-	NC_000001.11:g.43606837C>G	ExAC,gnomAD
rs760891458	p.Ser1243Leu	missense variant	-	NC_000001.11:g.43606839C>T	ExAC,TOPMed,gnomAD
rs760891458	p.Ser1243Trp	missense variant	-	NC_000001.11:g.43606839C>G	ExAC,TOPMed,gnomAD
rs1306249673	p.Asp1244Glu	missense variant	-	NC_000001.11:g.43606843T>G	gnomAD
COSM3865626	p.Val1247Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43606851T>G	NCI-TCGA Cosmic
rs371253686	p.Val1247Leu	missense variant	-	NC_000001.11:g.43606850G>C	ESP,ExAC,TOPMed,gnomAD
rs371253686	p.Val1247Met	missense variant	-	NC_000001.11:g.43606850G>A	ESP,ExAC,TOPMed,gnomAD
rs375842660	p.Val1248Phe	missense variant	-	NC_000001.11:g.43606853G>T	ESP,ExAC,gnomAD
rs375842660	p.Val1248Ile	missense variant	-	NC_000001.11:g.43606853G>A	ESP,ExAC,gnomAD
rs779846237	p.Gln1249Arg	missense variant	-	NC_000001.11:g.43606857A>G	ExAC,gnomAD
rs746966652	p.Pro1252Ser	missense variant	-	NC_000001.11:g.43606865C>T	ExAC,gnomAD
rs768291568	p.Pro1252Leu	missense variant	-	NC_000001.11:g.43606866C>T	ExAC
rs781060877	p.Ala1253Val	missense variant	-	NC_000001.11:g.43606869C>T	ExAC,gnomAD
rs747982551	p.Gln1254His	missense variant	-	NC_000001.11:g.43606873G>C	ExAC,gnomAD
rs769404453	p.Gln1255Glu	missense variant	-	NC_000001.11:g.43606874C>G	ExAC,TOPMed,gnomAD
rs1165482795	p.Gln1256His	missense variant	-	NC_000001.11:g.43606879G>C	TOPMed
rs146804143	p.Glu1257Lys	missense variant	-	NC_000001.11:g.43606880G>A	ESP,ExAC,TOPMed,gnomAD
rs145421480	p.Pro1259Leu	missense variant	-	NC_000001.11:g.43606887C>T	ESP,ExAC,TOPMed,gnomAD
rs764318613	p.Met1261Ile	missense variant	-	NC_000001.11:g.43606894G>A	ExAC,gnomAD
rs777034925	p.Thr1265Met	missense variant	-	NC_000001.11:g.43606905C>T	ExAC,TOPMed,gnomAD
rs1351632915	p.Gly1266Asp	missense variant	-	NC_000001.11:g.43606908G>A	gnomAD
rs201841127	p.Val1268Met	missense variant	-	NC_000001.11:g.43606913G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs754919062	p.Leu1276Phe	missense variant	-	NC_000001.11:g.43606937C>T	ExAC,TOPMed,gnomAD
rs754919062	p.Leu1276Ile	missense variant	-	NC_000001.11:g.43606937C>A	ExAC,TOPMed,gnomAD
rs747931170	p.Ile1277Val	missense variant	-	NC_000001.11:g.43606940A>G	ExAC,TOPMed,gnomAD
rs146960105	p.Ala1280Thr	missense variant	-	NC_000001.11:g.43606949G>A	ESP,ExAC,TOPMed,gnomAD
rs773936534	p.Leu1282Ile	missense variant	-	NC_000001.11:g.43606955C>A	ExAC,TOPMed,gnomAD
rs773686451	p.Thr1289Asn	missense variant	-	NC_000001.11:g.43609391C>A	ExAC,gnomAD
rs763264668	p.His1290Arg	missense variant	-	NC_000001.11:g.43609394A>G	ExAC,gnomAD
rs1448221458	p.Ser1291Cys	missense variant	-	NC_000001.11:g.43609397C>G	TOPMed,gnomAD
rs1448221458	p.Ser1291Phe	missense variant	-	NC_000001.11:g.43609397C>T	TOPMed,gnomAD
COSM4491820	p.Pro1292Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43609399C>T	NCI-TCGA Cosmic
rs763328337	p.Pro1292Leu	missense variant	-	NC_000001.11:g.43609400C>T	TOPMed
rs1253960522	p.Ser1293Phe	missense variant	-	NC_000001.11:g.43609403C>T	TOPMed
NCI-TCGA novel	p.Ser1294Cys	missense variant	-	NC_000001.11:g.43609406C>G	NCI-TCGA
rs760628972	p.Gly1301Val	missense variant	-	NC_000001.11:g.43609427G>T	ExAC,gnomAD
rs752592428	p.Gly1301Arg	missense variant	-	NC_000001.11:g.43609426G>A	ExAC,gnomAD
NCI-TCGA novel	p.Lys1303Asn	missense variant	-	NC_000001.11:g.43609434G>T	NCI-TCGA
rs993036102	p.Leu1306Phe	missense variant	-	NC_000001.11:g.43609443G>C	TOPMed
rs1049953768	p.Ala1308Val	missense variant	-	NC_000001.11:g.43609448C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Ser1311CysPheSerTerUnk	frameshift	-	NC_000001.11:g.43609456_43609457insG	NCI-TCGA
rs764069317	p.Asp1312His	missense variant	-	NC_000001.11:g.43609459G>C	ExAC,TOPMed,gnomAD
rs753601305	p.Pro1313Ala	missense variant	-	NC_000001.11:g.43609462C>G	ExAC,gnomAD
rs113465093	p.Arg1317Gly	missense variant	-	NC_000001.11:g.43609474C>G	TOPMed
rs777629923	p.Arg1317Gln	missense variant	-	NC_000001.11:g.43609475G>A	ExAC,gnomAD
rs113465093	p.Arg1317Trp	missense variant	-	NC_000001.11:g.43609474C>T	TOPMed
rs1484052835	p.Arg1318Lys	missense variant	-	NC_000001.11:g.43609478G>A	gnomAD
NCI-TCGA novel	p.Arg1318Met	missense variant	-	NC_000001.11:g.43609478G>T	NCI-TCGA
rs1044521354	p.Tyr1321Cys	missense variant	-	NC_000001.11:g.43609487A>G	TOPMed,gnomAD
COSM79029	p.Tyr1321Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.43609488C>G	NCI-TCGA Cosmic
rs551264881	p.Gln1322Glu	missense variant	-	NC_000001.11:g.43609489C>G	TOPMed,gnomAD
rs1411223375	p.Thr1323Asn	missense variant	-	NC_000001.11:g.43609493C>A	TOPMed
NCI-TCGA novel	p.Pro1324GlnPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.43609493C>-	NCI-TCGA
rs1237499608	p.Met1326Ile	missense variant	-	NC_000001.11:g.43613622G>T	gnomAD
rs1189198619	p.Met1326Thr	missense variant	-	NC_000001.11:g.43613621T>C	TOPMed,gnomAD
rs1163354852	p.Arg1327Gln	missense variant	-	NC_000001.11:g.43613624G>A	TOPMed,gnomAD
rs765265238	p.Arg1327Gly	missense variant	-	NC_000001.11:g.43613623C>G	ExAC,gnomAD
COSM6126667	p.His1329Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43613630A>T	NCI-TCGA Cosmic
rs1414794847	p.His1329Asn	missense variant	-	NC_000001.11:g.43613629C>A	TOPMed,gnomAD
rs1458274555	p.Pro1330Leu	missense variant	-	NC_000001.11:g.43613633C>T	gnomAD
rs772848582	p.Ile1332Val	missense variant	-	NC_000001.11:g.43613638A>G	ExAC,gnomAD
rs762905507	p.Pro1333Ser	missense variant	-	NC_000001.11:g.43613641C>T	ExAC,gnomAD
rs771277235	p.Asp1336Tyr	missense variant	-	NC_000001.11:g.43613650G>T	gnomAD
rs771277235	p.Asp1336Asn	missense variant	-	NC_000001.11:g.43613650G>A	gnomAD
rs751268560	p.Leu1337Val	missense variant	-	NC_000001.11:g.43613653C>G	ExAC,TOPMed,gnomAD
rs371752134	p.Ala1338Val	missense variant	-	NC_000001.11:g.43613657C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp1339Asn	missense variant	-	NC_000001.11:g.43613659G>A	NCI-TCGA
rs754321401	p.Asn1340Thr	missense variant	-	NC_000001.11:g.43613663A>C	ExAC,TOPMed,gnomAD
rs754321401	p.Asn1340Ser	missense variant	-	NC_000001.11:g.43613663A>G	ExAC,TOPMed,gnomAD
rs1348295565	p.Ile1341Val	missense variant	-	NC_000001.11:g.43613665A>G	gnomAD
rs779515985	p.Glu1342Lys	missense variant	-	NC_000001.11:g.43613668G>A	ExAC,TOPMed,gnomAD
rs746215058	p.Glu1342Gly	missense variant	-	NC_000001.11:g.43613669A>G	ExAC,gnomAD
rs761487819	p.Arg1343Leu	missense variant	-	NC_000001.11:g.43613672G>T	ExAC,TOPMed,gnomAD
rs369549174	p.Arg1343Cys	missense variant	-	NC_000001.11:g.43613671C>T	ESP,ExAC,TOPMed,gnomAD
rs761487819	p.Arg1343His	missense variant	-	NC_000001.11:g.43613672G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu1344Phe	missense variant	-	NC_000001.11:g.43613674C>T	NCI-TCGA
rs202114940	p.Lys1345Arg	missense variant	-	NC_000001.11:g.43613678A>G	1000Genomes,ExAC,gnomAD
rs528728508	p.Asn1347Ser	missense variant	-	NC_000001.11:g.43613684A>G	TOPMed,gnomAD
rs748296641	p.Asp1348His	missense variant	-	NC_000001.11:g.43613686G>C	ExAC,TOPMed,gnomAD
rs748296641	p.Asp1348Asn	missense variant	-	NC_000001.11:g.43613686G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly1349Ser	missense variant	-	NC_000001.11:g.43613689G>A	NCI-TCGA
rs1401725517	p.Leu1350Arg	missense variant	-	NC_000001.11:g.43613693T>G	gnomAD
rs769612296	p.Lys1351Glu	missense variant	-	NC_000001.11:g.43613695A>G	ExAC,gnomAD
rs1220050094	p.Lys1351Thr	missense variant	-	NC_000001.11:g.43613696A>C	TOPMed
rs944539538	p.Glu1355Ala	missense variant	-	NC_000001.11:g.43613708A>C	TOPMed
rs773257469	p.Glu1355Asp	missense variant	-	NC_000001.11:g.43613709G>T	ExAC,gnomAD
rs762776569	p.Tyr1356Ser	missense variant	-	NC_000001.11:g.43613711A>C	ExAC,gnomAD
rs1420797332	p.Glu1357Lys	missense variant	-	NC_000001.11:g.43613713G>A	gnomAD
rs763667914	p.Ile1359Val	missense variant	-	NC_000001.11:g.43617448A>G	ExAC,gnomAD
NCI-TCGA novel	p.Ile1359Met	missense variant	-	NC_000001.11:g.43617450C>G	NCI-TCGA
rs763477204	p.Asp1360Asn	missense variant	-	NC_000001.11:g.43617451G>A	ExAC,TOPMed,gnomAD
rs1206641795	p.Gln1363Pro	missense variant	-	NC_000001.11:g.43617461A>C	TOPMed
rs1339395530	p.Gln1364Leu	missense variant	-	NC_000001.11:g.43617464A>T	TOPMed
COSM909881	p.Phe1365Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43617467T>C	NCI-TCGA Cosmic
rs751913526	p.Thr1366Met	missense variant	-	NC_000001.11:g.43617470C>T	ExAC,TOPMed,gnomAD
rs751913526	p.Thr1366Arg	missense variant	-	NC_000001.11:g.43617470C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu1368Asp	missense variant	-	NC_000001.11:g.43617477G>T	NCI-TCGA
rs1370341354	p.Asn1369Ser	missense variant	-	NC_000001.11:g.43617479A>G	gnomAD
COSM3490000	p.Ser1370Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43617482C>T	NCI-TCGA Cosmic
rs755425568	p.Ser1370Pro	missense variant	-	NC_000001.11:g.43617481T>C	ExAC
NCI-TCGA novel	p.Glu1373Lys	missense variant	-	NC_000001.11:g.43617490G>A	NCI-TCGA
NCI-TCGA novel	p.Glu1373Asp	missense variant	-	NC_000001.11:g.43617492G>T	NCI-TCGA
rs1203282758	p.Val1374Met	missense variant	-	NC_000001.11:g.43617493G>A	TOPMed,gnomAD
rs1203282758	p.Val1374Leu	missense variant	-	NC_000001.11:g.43617493G>T	TOPMed,gnomAD
rs1165576828	p.Arg1380His	missense variant	-	NC_000001.11:g.43617512G>A	TOPMed,gnomAD
rs781210446	p.Tyr1381Cys	missense variant	-	NC_000001.11:g.43617515A>G	ExAC,gnomAD
rs886198606	p.Tyr1381Asp	missense variant	-	NC_000001.11:g.43617514T>G	gnomAD
rs752966262	p.Ala1382Gly	missense variant	-	NC_000001.11:g.43617518C>G	ExAC,TOPMed,gnomAD
rs752966262	p.Ala1382Val	missense variant	-	NC_000001.11:g.43617518C>T	ExAC,TOPMed,gnomAD
rs148741898	p.Ala1386Ser	missense variant	-	NC_000001.11:g.43617529G>T	ESP,ExAC,TOPMed,gnomAD
rs148741898	p.Ala1386Thr	missense variant	-	NC_000001.11:g.43617529G>A	ESP,ExAC,TOPMed,gnomAD
rs760409112	p.His1389Asp	missense variant	-	NC_000001.11:g.43617538C>G	ExAC,gnomAD
NCI-TCGA novel	p.His1389Asn	missense variant	-	NC_000001.11:g.43617538C>A	NCI-TCGA
NCI-TCGA novel	p.His1389Tyr	missense variant	-	NC_000001.11:g.43617538C>T	NCI-TCGA
rs1210951527	p.Arg1391Ter	stop gained	-	NC_000001.11:g.43617544C>T	gnomAD
rs1210951527	p.Arg1391Gly	missense variant	-	NC_000001.11:g.43617544C>G	gnomAD
NCI-TCGA novel	p.Arg1391Pro	missense variant	-	NC_000001.11:g.43617545G>C	NCI-TCGA
rs768005633	p.Val1392Ile	missense variant	-	NC_000001.11:g.43617547G>A	ExAC,gnomAD
rs776101253	p.Ile1393Thr	missense variant	-	NC_000001.11:g.43617551T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ile1393Met	missense variant	-	NC_000001.11:g.43617552C>G	NCI-TCGA
rs761375386	p.Thr1395Ile	missense variant	-	NC_000001.11:g.43617557C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser1396Cys	missense variant	-	NC_000001.11:g.43617560C>G	NCI-TCGA
COSM3490002	p.Ile1397Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43617562A>T	NCI-TCGA Cosmic
rs1417036459	p.Asp1398Asn	missense variant	-	NC_000001.11:g.43617565G>A	gnomAD
rs761012325	p.Gly1399Asp	missense variant	-	NC_000001.11:g.43617736G>A	ExAC,gnomAD
rs1459855311	p.Gly1399Ser	missense variant	-	NC_000001.11:g.43617568G>A	TOPMed,gnomAD
rs764399239	p.Val1400Ile	missense variant	-	NC_000001.11:g.43617738G>A	ExAC,TOPMed,gnomAD
rs202116615	p.Gly1402Arg	missense variant	-	NC_000001.11:g.43617744G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly1402Glu	missense variant	-	NC_000001.11:g.43617745G>A	NCI-TCGA
rs758321458	p.Asp1404Gly	missense variant	-	NC_000001.11:g.43617751A>G	ExAC,gnomAD
rs758321458	p.Asp1404Ala	missense variant	-	NC_000001.11:g.43617751A>C	ExAC,gnomAD
rs1249085092	p.Asn1407Ser	missense variant	-	NC_000001.11:g.43617760A>G	TOPMed
NCI-TCGA novel	p.Ala1408Val	missense variant	-	NC_000001.11:g.43617763C>T	NCI-TCGA
rs1427091924	p.Asp1412Asn	missense variant	-	NC_000001.11:g.43617774G>A	gnomAD
rs754775343	p.Tyr1414Cys	missense variant	-	NC_000001.11:g.43617781A>G	ExAC,gnomAD
rs370637531	p.Arg1415His	missense variant	-	NC_000001.11:g.43617784G>A	ESP,ExAC,TOPMed,gnomAD
rs780769007	p.Arg1415Cys	missense variant	-	NC_000001.11:g.43617783C>T	ExAC,gnomAD
rs1431134339	p.Lys1416Glu	missense variant	-	NC_000001.11:g.43617786A>G	gnomAD
rs1431134339	p.Lys1416Gln	missense variant	-	NC_000001.11:g.43617786A>C	gnomAD
rs1337100027	p.Ala1419Thr	missense variant	-	NC_000001.11:g.43617795G>A	gnomAD
rs1328990399	p.Ile1421Val	missense variant	-	NC_000001.11:g.43617801A>G	gnomAD
rs1310657329	p.Ala1422Thr	missense variant	-	NC_000001.11:g.43617804G>A	TOPMed
rs748798640	p.Thr1423Met	missense variant	-	NC_000001.11:g.43617808C>T	ExAC,TOPMed,gnomAD
rs1322347994	p.Gln1424Pro	missense variant	-	NC_000001.11:g.43617811A>C	TOPMed
COSM3490005	p.Pro1426Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43617817C>T	NCI-TCGA Cosmic
rs1383913294	p.Met1431Val	missense variant	-	NC_000001.11:g.43617831A>G	TOPMed
rs776942329	p.Asp1433Asn	missense variant	-	NC_000001.11:g.43617837G>A	ExAC,TOPMed,gnomAD
rs641351	p.Arg1436Ser	missense variant	-	NC_000001.11:g.43617848G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg1436Lys	missense variant	-	NC_000001.11:g.43617847G>A	NCI-TCGA
rs367870850	p.Arg1442His	missense variant	-	NC_000001.11:g.43617865G>A	ExAC,gnomAD
rs1202367134	p.Arg1442Cys	missense variant	-	NC_000001.11:g.43617864C>T	gnomAD
rs1192576595	p.Thr1443Met	missense variant	-	NC_000001.11:g.43617868C>T	gnomAD
rs751468520	p.Ala1444Thr	missense variant	-	NC_000001.11:g.43617870G>A	ExAC,gnomAD
rs1167972950	p.Ala1444Asp	missense variant	-	NC_000001.11:g.43617871C>A	gnomAD
rs1408645384	p.Thr1445Ser	missense variant	-	NC_000001.11:g.43617873A>T	TOPMed,gnomAD
rs1167542100	p.Val1446Gly	missense variant	-	NC_000001.11:g.43617877T>G	gnomAD
rs1395607317	p.Val1447Ala	missense variant	-	NC_000001.11:g.43617880T>C	TOPMed,gnomAD
rs535518899	p.Met1448Thr	missense variant	-	NC_000001.11:g.43617883T>C	1000Genomes,ExAC,gnomAD
rs367752429	p.Arg1451Trp	missense variant	-	NC_000001.11:g.43617891C>T	ESP,ExAC,TOPMed,gnomAD
rs549116245	p.Arg1451Gln	missense variant	-	NC_000001.11:g.43617892G>A	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Glu1453Lys	missense variant	-	NC_000001.11:g.43617897G>A	NCI-TCGA
rs1257687543	p.Val1458Ala	missense variant	-	NC_000001.11:g.43618631T>C	gnomAD
rs1212390431	p.Val1458Ile	missense variant	-	NC_000001.11:g.43618630G>A	gnomAD
COSM681265	p.Cys1460Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43618638T>G	NCI-TCGA Cosmic
rs903062795	p.Gln1462Glu	missense variant	-	NC_000001.11:g.43618642C>G	TOPMed,gnomAD
rs745409381	p.Arg1467His	missense variant	-	NC_000001.11:g.43618658G>A	ExAC,TOPMed,gnomAD
rs778315843	p.Arg1467Cys	missense variant	-	NC_000001.11:g.43618657C>T	ExAC,TOPMed,gnomAD
rs1470736677	p.Gly1468Cys	missense variant	-	NC_000001.11:g.43618660G>T	gnomAD
rs781778248	p.Thr1469Ile	missense variant	-	NC_000001.11:g.43618664C>T	ExAC
rs769260975	p.Thr1469Ala	missense variant	-	NC_000001.11:g.43618663A>G	ExAC,gnomAD
rs1416435157	p.Glu1470Lys	missense variant	-	NC_000001.11:g.43618666G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Glu1470Asp	missense variant	-	NC_000001.11:g.43618668G>T	NCI-TCGA
rs1313551565	p.Thr1471Ser	missense variant	-	NC_000001.11:g.43618670C>G	TOPMed,gnomAD
rs1374926406	p.Gly1473Asp	missense variant	-	NC_000001.11:g.43618676G>A	gnomAD
COSM3490009	p.Leu1474Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43618678C>T	NCI-TCGA Cosmic
rs1012660995	p.Val1477Met	missense variant	-	NC_000001.11:g.43618687G>A	TOPMed,gnomAD
rs763118237	p.Thr1478Ile	missense variant	-	NC_000001.11:g.43618691C>T	ExAC,TOPMed,gnomAD
rs1022695131	p.Leu1480Ser	missense variant	-	NC_000001.11:g.43618697T>C	TOPMed
rs146964251	p.Asp1481His	missense variant	-	NC_000001.11:g.43618699G>C	ESP,ExAC
rs775410354	p.Val1483Gly	missense variant	-	NC_000001.11:g.43618706T>G	ExAC,gnomAD
rs775410354	p.Val1483Ala	missense variant	-	NC_000001.11:g.43618706T>C	ExAC,gnomAD
rs1389018689	p.Glu1484Gln	missense variant	-	NC_000001.11:g.43618708G>C	TOPMed
rs1280346162	p.Leu1485Arg	missense variant	-	NC_000001.11:g.43618712T>G	gnomAD
rs760404112	p.Ala1486Ser	missense variant	-	NC_000001.11:g.43618714G>T	ExAC,gnomAD
COSM909884	p.Thr1487Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43618717A>G	NCI-TCGA Cosmic
rs371587895	p.Tyr1488His	missense variant	-	NC_000001.11:g.43618720T>C	ESP,ExAC,TOPMed,gnomAD
rs756825445	p.Thr1489Ala	missense variant	-	NC_000001.11:g.43618723A>G	ExAC,gnomAD
rs764987244	p.Thr1489Ser	missense variant	-	NC_000001.11:g.43618724C>G	ExAC,gnomAD
rs749935647	p.Arg1491Cys	missense variant	-	NC_000001.11:g.43618729C>T	ExAC,gnomAD
rs375234489	p.Arg1491His	missense variant	-	NC_000001.11:g.43618730G>A	ESP,ExAC,TOPMed,gnomAD
rs202030226	p.Ala1494Thr	missense variant	-	NC_000001.11:g.43618738G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1398514141	p.Leu1495Phe	missense variant	-	NC_000001.11:g.43618741C>T	gnomAD
rs1398514141	p.Leu1495Val	missense variant	-	NC_000001.11:g.43618741C>G	gnomAD
rs1391964552	p.His1496Tyr	missense variant	-	NC_000001.11:g.43618744C>T	gnomAD
rs1165369421	p.Ser1498Arg	missense variant	-	NC_000001.11:g.43619048A>C	gnomAD
rs142031392	p.Ser1498Thr	missense variant	-	NC_000001.11:g.43619049G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1290285355	p.Gly1499Ala	missense variant	-	NC_000001.11:g.43619052G>C	TOPMed,gnomAD
rs776693106	p.Ser1501Arg	missense variant	-	NC_000001.11:g.43619057A>C	ExAC
rs1381131887	p.Ser1501Thr	missense variant	-	NC_000001.11:g.43619058G>C	gnomAD
rs769736949	p.Arg1504His	missense variant	-	NC_000001.11:g.43619067G>A	ExAC,TOPMed,gnomAD
rs761445525	p.Arg1504Cys	missense variant	-	NC_000001.11:g.43619066C>T	ExAC,TOPMed,gnomAD
rs190997680	p.Glu1505Lys	missense variant	-	NC_000001.11:g.43619069G>A	1000Genomes,ExAC,gnomAD
rs17849118	p.Leu1506Val	missense variant	-	NC_000001.11:g.43619072C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1218164234	p.Arg1507Cys	missense variant	-	NC_000001.11:g.43619075C>T	TOPMed,gnomAD
rs1028882041	p.Arg1507His	missense variant	-	NC_000001.11:g.43619076G>A	TOPMed,gnomAD
rs1176281524	p.Phe1511Cys	missense variant	-	NC_000001.11:g.43619088T>G	TOPMed
rs759154108	p.Phe1511Leu	missense variant	-	NC_000001.11:g.43619087T>C	ExAC,TOPMed,gnomAD
rs1476106910	p.Asp1516Gly	missense variant	-	NC_000001.11:g.43619103A>G	gnomAD
rs1032025108	p.His1517Arg	missense variant	-	NC_000001.11:g.43619106A>G	TOPMed
rs113456929	p.Gly1518Glu	missense variant	-	NC_000001.11:g.43619109G>A	ExAC,TOPMed,gnomAD
rs917133176	p.Pro1520Ala	missense variant	-	NC_000001.11:g.43619114C>G	TOPMed
COSM3490011	p.Pro1525Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43619129C>T	NCI-TCGA Cosmic
rs750825052	p.Pro1525Leu	missense variant	-	NC_000001.11:g.43619130C>T	ExAC,gnomAD
rs758595390	p.Ala1528Val	missense variant	-	NC_000001.11:g.43619139C>T	ExAC,gnomAD
rs758595390	p.Ala1528Asp	missense variant	-	NC_000001.11:g.43619139C>A	ExAC,gnomAD
rs70937045	p.Arg1531Gln	missense variant	-	NC_000001.11:g.43619148G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs70937045	p.Arg1531Leu	missense variant	-	NC_000001.11:g.43619148G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs748151594	p.Arg1532Trp	missense variant	-	NC_000001.11:g.43619150C>T	ExAC,gnomAD
rs755881493	p.Arg1532Gln	missense variant	-	NC_000001.11:g.43619151G>A	ExAC,TOPMed,gnomAD
rs773121796	p.Lys1534Glu	missense variant	-	NC_000001.11:g.43619156A>G	ExAC,gnomAD
rs762901411	p.Ala1535Thr	missense variant	-	NC_000001.11:g.43619159G>A	ExAC,gnomAD
rs762901411	p.Ala1535Pro	missense variant	-	NC_000001.11:g.43619159G>C	ExAC,gnomAD
rs1237155038	p.Cys1536Tyr	missense variant	-	NC_000001.11:g.43619163G>A	gnomAD
rs774058164	p.Asn1537Lys	missense variant	-	NC_000001.11:g.43619167C>G	ExAC,TOPMed,gnomAD
rs770704706	p.Asn1537Thr	missense variant	-	NC_000001.11:g.43619166A>C	ExAC,TOPMed,gnomAD
rs774058164	p.Asn1537Lys	missense variant	-	NC_000001.11:g.43619167C>A	ExAC,TOPMed,gnomAD
rs770704706	p.Asn1537Ser	missense variant	-	NC_000001.11:g.43619166A>G	ExAC,TOPMed,gnomAD
rs758914545	p.Leu1539Val	missense variant	-	NC_000001.11:g.43619171C>G	ExAC,gnomAD
rs754258723	p.Ala1541Thr	missense variant	-	NC_000001.11:g.43619177G>A	ExAC,TOPMed,gnomAD
rs1418092772	p.Gly1542Arg	missense variant	-	NC_000001.11:g.43619180G>A	gnomAD
COSM681264	p.Gly1542Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43619180G>T	NCI-TCGA Cosmic
rs1454942387	p.Met1544Leu	missense variant	-	NC_000001.11:g.43619186A>T	TOPMed
rs563305665	p.Met1544Thr	missense variant	-	NC_000001.11:g.43619187T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1434767385	p.Val1545Met	missense variant	-	NC_000001.11:g.43619189G>A	gnomAD
rs1172532472	p.Val1546Leu	missense variant	-	NC_000001.11:g.43619192G>C	gnomAD
rs868712206	p.Cys1548Ter	stop gained	-	NC_000001.11:g.43619200C>A	gnomAD
rs767692370	p.Ser1549Arg	missense variant	-	NC_000001.11:g.43619288C>A	ExAC,TOPMed,gnomAD
rs756268896	p.Ala1550Glu	missense variant	-	NC_000001.11:g.43619290C>A	ExAC,TOPMed,gnomAD
rs752821972	p.Ala1550Thr	missense variant	-	NC_000001.11:g.43619289G>A	ExAC,TOPMed,gnomAD
rs756268896	p.Ala1550Val	missense variant	-	NC_000001.11:g.43619290C>T	ExAC,TOPMed,gnomAD
rs370996086	p.Val1552Met	missense variant	-	NC_000001.11:g.43619295G>A	ESP,ExAC,TOPMed,gnomAD
rs917715521	p.Val1552Ala	missense variant	-	NC_000001.11:g.43619296T>C	TOPMed
rs778737593	p.Arg1554His	missense variant	-	NC_000001.11:g.43619302G>A	ExAC,TOPMed,gnomAD
rs756962072	p.Arg1554Cys	missense variant	-	NC_000001.11:g.43619301C>T	ExAC,TOPMed,gnomAD
rs745698006	p.Gly1556Ser	missense variant	-	NC_000001.11:g.43619307G>A	ExAC,TOPMed,gnomAD
rs548137409	p.Ile1559Val	missense variant	-	NC_000001.11:g.43619316A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1216731645	p.Ile1559Ser	missense variant	-	NC_000001.11:g.43619317T>G	gnomAD
rs545781120	p.Val1560Met	missense variant	-	NC_000001.11:g.43619319G>A	ExAC,TOPMed,gnomAD
rs763422012	p.Met1564Val	missense variant	-	NC_000001.11:g.43619331A>G	ExAC,TOPMed,gnomAD
rs766848150	p.Met1564Thr	missense variant	-	NC_000001.11:g.43619332T>C	ExAC,gnomAD
rs139472475	p.Arg1567Gln	missense variant	-	NC_000001.11:g.43619341G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1273214223	p.Arg1567Trp	missense variant	-	NC_000001.11:g.43619340C>T	TOPMed
COSM3490015	p.Met1568Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43619345G>A	NCI-TCGA Cosmic
rs759888484	p.Met1568Val	missense variant	-	NC_000001.11:g.43619343A>G	ExAC,gnomAD
rs767714096	p.Lys1569Asn	missense variant	-	NC_000001.11:g.43619348G>T	ExAC,TOPMed,gnomAD
rs1430627272	p.Lys1572Glu	missense variant	-	NC_000001.11:g.43619355A>G	TOPMed
rs752983554	p.Thr1573Met	missense variant	-	NC_000001.11:g.43619359C>T	ExAC,gnomAD
rs374607021	p.Asp1575Asn	missense variant	-	NC_000001.11:g.43619364G>A	ESP,ExAC,gnomAD
rs1317650582	p.Asp1575Glu	missense variant	-	NC_000001.11:g.43619366C>A	TOPMed,gnomAD
rs754009897	p.Tyr1577Cys	missense variant	-	NC_000001.11:g.43619371A>G	ExAC,gnomAD
rs1398022225	p.Gly1578Ser	missense variant	-	NC_000001.11:g.43619373G>A	gnomAD
NCI-TCGA novel	p.Gly1578Asp	missense variant	-	NC_000001.11:g.43619374G>A	NCI-TCGA
rs778771796	p.Val1580Ala	missense variant	-	NC_000001.11:g.43619380T>C	ExAC,gnomAD
NCI-TCGA novel	p.Thr1581Ala	missense variant	-	NC_000001.11:g.43619382A>G	NCI-TCGA
rs745670160	p.Met1583Val	missense variant	-	NC_000001.11:g.43619388A>G	ExAC,gnomAD
rs758129076	p.Met1583Thr	missense variant	-	NC_000001.11:g.43619389T>C	ExAC,gnomAD
rs779621604	p.Met1583Ile	missense variant	-	NC_000001.11:g.43619390G>A	ExAC,gnomAD
rs746682490	p.Arg1584Ter	stop gained	-	NC_000001.11:g.43619391C>T	ExAC,gnomAD
rs1302070237	p.Arg1584Gln	missense variant	-	NC_000001.11:g.43619392G>A	gnomAD
rs768112017	p.Ser1585Leu	missense variant	-	NC_000001.11:g.43619395C>T	ExAC,gnomAD
rs747718453	p.Met1590Val	missense variant	-	NC_000001.11:g.43619409A>G	ExAC,gnomAD
rs1185864439	p.Met1590Ile	missense variant	-	NC_000001.11:g.43619411G>A	gnomAD
rs377575574	p.Thr1593Met	missense variant	-	NC_000001.11:g.43619419C>T	ESP,ExAC,TOPMed,gnomAD
rs1158238606	p.Asp1595Asn	missense variant	-	NC_000001.11:g.43619424G>A	gnomAD
rs772345080	p.Val1598Met	missense variant	-	NC_000001.11:g.43619433G>A	ExAC,TOPMed,gnomAD
rs1239648530	p.Ile1600Thr	missense variant	-	NC_000001.11:g.43619440T>C	gnomAD
rs1395449668	p.Ile1600Leu	missense variant	-	NC_000001.11:g.43619439A>C	gnomAD
rs371076941	p.His1601Arg	missense variant	-	NC_000001.11:g.43619443A>G	ESP,ExAC,TOPMed,gnomAD
rs760947139	p.Glu1602Ala	missense variant	-	NC_000001.11:g.43619446A>C	ExAC,gnomAD
rs558223872	p.Ala1603Ser	missense variant	-	NC_000001.11:g.43619448G>T	1000Genomes,ExAC,gnomAD
rs373838949	p.Ala1603Val	missense variant	-	NC_000001.11:g.43619449C>T	ESP,ExAC,TOPMed,gnomAD
rs145211050	p.Thr1609Met	missense variant	-	NC_000001.11:g.43619467C>T	1000Genomes,ExAC,gnomAD
rs1344845933	p.Thr1609Ala	missense variant	-	NC_000001.11:g.43619466A>G	gnomAD
rs780893841	p.Cys1610Tyr	missense variant	-	NC_000001.11:g.43619470G>A	ExAC
rs779426523	p.Gly1611Asp	missense variant	-	NC_000001.11:g.43619473G>A	ExAC,gnomAD
rs200975835	p.Gly1611Ser	missense variant	-	NC_000001.11:g.43619472G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs772747132	p.Glu1614Gln	missense variant	-	NC_000001.11:g.43619481G>C	ExAC,TOPMed,gnomAD
rs775973893	p.Ala1617Val	missense variant	-	NC_000001.11:g.43619491C>T	ExAC,gnomAD
rs761178241	p.Arg1618His	missense variant	-	NC_000001.11:g.43619494G>A	ExAC,TOPMed,gnomAD
rs557123403	p.Arg1618Cys	missense variant	-	NC_000001.11:g.43619493C>T	1000Genomes,TOPMed,gnomAD
rs202169828	p.Asn1619Tyr	missense variant	-	NC_000001.11:g.43619496A>T	ESP,ExAC,TOPMed,gnomAD
rs1330495069	p.Asn1619Ser	missense variant	-	NC_000001.11:g.43619497A>G	TOPMed,gnomAD
rs1163327417	p.Tyr1621Cys	missense variant	-	NC_000001.11:g.43619503A>G	TOPMed,gnomAD
rs1163327417	p.Tyr1621Ser	missense variant	-	NC_000001.11:g.43619503A>C	TOPMed,gnomAD
rs142117073	p.Tyr1621His	missense variant	-	NC_000001.11:g.43619502T>C	ESP,ExAC,TOPMed,gnomAD
rs1303429374	p.Ala1622Thr	missense variant	-	NC_000001.11:g.43619505G>A	gnomAD
rs750332454	p.His1623Tyr	missense variant	-	NC_000001.11:g.43619508C>T	ExAC,gnomAD
rs762765550	p.Gln1625Arg	missense variant	-	NC_000001.11:g.43619515A>G	ExAC,gnomAD
rs150085995	p.Gly1628Ser	missense variant	-	NC_000001.11:g.43619523G>A	ESP,ExAC,TOPMed,gnomAD
rs1256630824	p.Gln1629His	missense variant	-	NC_000001.11:g.43619528A>T	gnomAD
rs1214567224	p.Val1630Ala	missense variant	-	NC_000001.11:g.43619530T>C	gnomAD
rs754777001	p.Val1630Met	missense variant	-	NC_000001.11:g.43619529G>A	ExAC,gnomAD
rs752315680	p.Pro1631Ser	missense variant	-	NC_000001.11:g.43619532C>T	ExAC,TOPMed,gnomAD
rs777117732	p.Gly1633Glu	missense variant	-	NC_000001.11:g.43619539G>A	ExAC,gnomAD
rs748877164	p.Glu1634Lys	missense variant	-	NC_000001.11:g.43619541G>A	ExAC,gnomAD
rs758958686	p.Ser1635Arg	missense variant	-	NC_000001.11:g.43619546T>A	ExAC,gnomAD
rs565355095	p.Val1636Ala	missense variant	-	NC_000001.11:g.43619548T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1397867455	p.Val1636Met	missense variant	-	NC_000001.11:g.43619547G>A	TOPMed,gnomAD
rs1389621772	p.Thr1637Ser	missense variant	-	NC_000001.11:g.43619551C>G	gnomAD
rs541451200	p.Ala1638Ser	missense variant	-	NC_000001.11:g.43619553G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs541451200	p.Ala1638Thr	missense variant	-	NC_000001.11:g.43619553G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1327523720	p.Ala1638Val	missense variant	-	NC_000001.11:g.43619554C>T	gnomAD
COSM3490017	p.Leu1641Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43619562C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu1642Lys	missense variant	-	NC_000001.11:g.43619565G>A	NCI-TCGA
rs759439345	p.Ser1648Asn	missense variant	-	NC_000001.11:g.43619690G>A	ExAC,gnomAD
rs767540594	p.Lys1650Arg	missense variant	-	NC_000001.11:g.43619696A>G	ExAC,TOPMed,gnomAD
rs532554718	p.Ala1651Val	missense variant	-	NC_000001.11:g.43619699C>T	1000Genomes
rs775132901	p.Ala1651Thr	missense variant	-	NC_000001.11:g.43619698G>A	ExAC,gnomAD
rs775132901	p.Ala1651Ser	missense variant	-	NC_000001.11:g.43619698G>T	ExAC,gnomAD
rs1377458062	p.His1652Gln	missense variant	-	NC_000001.11:g.43619703C>G	TOPMed,gnomAD
rs763586039	p.Thr1653Arg	missense variant	-	NC_000001.11:g.43619705C>G	ExAC,TOPMed,gnomAD
rs763586039	p.Thr1653Met	missense variant	-	NC_000001.11:g.43619705C>T	ExAC,TOPMed,gnomAD
rs755516127	p.Arg1655His	missense variant	-	NC_000001.11:g.43619711G>A	ExAC,TOPMed,gnomAD
rs749990734	p.Arg1655Cys	missense variant	-	NC_000001.11:g.43619710C>T	ExAC,TOPMed,gnomAD
rs749990734	p.Arg1655Gly	missense variant	-	NC_000001.11:g.43619710C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe1656Leu	missense variant	-	NC_000001.11:g.43619713T>C	NCI-TCGA
rs1349886664	p.Ser1658Thr	missense variant	-	NC_000001.11:g.43619720G>C	gnomAD
rs1016222559	p.Ala1659Thr	missense variant	-	NC_000001.11:g.43619722G>A	gnomAD
rs777812290	p.Asn1660Ile	missense variant	-	NC_000001.11:g.43619726A>T	ExAC,gnomAD
rs777812290	p.Asn1660Ser	missense variant	-	NC_000001.11:g.43619726A>G	ExAC,gnomAD
rs565463212	p.Pro1662Ser	missense variant	-	NC_000001.11:g.43619731C>T	1000Genomes,ExAC,gnomAD
rs565463212	p.Pro1662Ala	missense variant	-	NC_000001.11:g.43619731C>G	1000Genomes,ExAC,gnomAD
rs771183252	p.Cys1663Tyr	missense variant	-	NC_000001.11:g.43619735G>A	ExAC,TOPMed,gnomAD
rs1438768947	p.Lys1665Thr	missense variant	-	NC_000001.11:g.43619741A>C	gnomAD
rs534381986	p.Asn1668Ser	missense variant	-	NC_000001.11:g.43619750A>G	1000Genomes,ExAC,gnomAD
rs746007326	p.Arg1669Gln	missense variant	-	NC_000001.11:g.43619753G>A	ExAC,gnomAD
NCI-TCGA novel	p.Arg1669Trp	missense variant	-	NC_000001.11:g.43619752C>T	NCI-TCGA
rs771897426	p.Val1671Glu	missense variant	-	NC_000001.11:g.43619759T>A	ExAC,TOPMed,gnomAD
rs771897426	p.Val1671Gly	missense variant	-	NC_000001.11:g.43619759T>G	ExAC,TOPMed,gnomAD
rs775500719	p.Asn1672Asp	missense variant	-	NC_000001.11:g.43619761A>G	ExAC,gnomAD
rs1463828635	p.Glu1677Lys	missense variant	-	NC_000001.11:g.43619776G>A	gnomAD
rs1444849774	p.Arg1680His	missense variant	-	NC_000001.11:g.43619786G>A	TOPMed,gnomAD
rs1387514159	p.Arg1687His	missense variant	-	NC_000001.11:g.43619807G>A	TOPMed
rs776380044	p.Arg1687Cys	missense variant	-	NC_000001.11:g.43619806C>T	ExAC,gnomAD
rs1219699868	p.Val1689Met	missense variant	-	NC_000001.11:g.43619812G>A	gnomAD
rs1188744998	p.Ser1692Thr	missense variant	-	NC_000001.11:g.43619821T>A	TOPMed
rs1258470133	p.Tyr1694Cys	missense variant	-	NC_000001.11:g.43619828A>G	gnomAD
NCI-TCGA novel	p.Ser1698Thr	missense variant	-	NC_000001.11:g.43619840G>C	NCI-TCGA
rs771181177	p.Gly1702Asp	missense variant	-	NC_000001.11:g.43619852G>A	gnomAD
rs771181177	p.Gly1702Ala	missense variant	-	NC_000001.11:g.43619852G>C	gnomAD
rs139706869	p.Gly1702Ser	missense variant	-	NC_000001.11:g.43619851G>A	ESP,ExAC,TOPMed,gnomAD
rs1287074551	p.Gln1706Arg	missense variant	-	NC_000001.11:g.43620100A>G	gnomAD
rs1205474230	p.Ala1708Val	missense variant	-	NC_000001.11:g.43620106C>T	TOPMed
rs751071796	p.Tyr1709Cys	missense variant	-	NC_000001.11:g.43620109A>G	ExAC,gnomAD
rs764644238	p.Ile1710Leu	missense variant	-	NC_000001.11:g.43620111A>C	ExAC,gnomAD
rs1410487785	p.Ala1717Thr	missense variant	-	NC_000001.11:g.43620132G>A	gnomAD
COSM72350	p.Glu1721Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43620144G>C	NCI-TCGA Cosmic
rs780147204	p.Glu1721Lys	missense variant	-	NC_000001.11:g.43620144G>A	ExAC,TOPMed,gnomAD
rs1376549439	p.Asp1722Gly	missense variant	-	NC_000001.11:g.43620148A>G	TOPMed
rs1338025567	p.Trp1724Arg	missense variant	-	NC_000001.11:g.43620153T>C	TOPMed
COSM681263	p.Arg1725Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43620157G>T	NCI-TCGA Cosmic
rs754926878	p.Arg1725His	missense variant	-	NC_000001.11:g.43620157G>A	ExAC,gnomAD
rs747103988	p.Arg1725Cys	missense variant	-	NC_000001.11:g.43620156C>T	ExAC,gnomAD
rs781342226	p.Met1726Ile	missense variant	-	NC_000001.11:g.43620161G>A	ExAC,gnomAD
rs769736790	p.Trp1728Arg	missense variant	-	NC_000001.11:g.43620165T>C	ExAC,gnomAD
rs1471237893	p.Glu1729Gln	missense variant	-	NC_000001.11:g.43620168G>C	TOPMed
rs772962387	p.His1730Arg	missense variant	-	NC_000001.11:g.43620172A>G	ExAC,TOPMed,gnomAD
rs145235828	p.His1730Gln	missense variant	-	NC_000001.11:g.43620173C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs142050471	p.Asn1731Ser	missense variant	-	NC_000001.11:g.43620175A>G	ESP,ExAC,TOPMed,gnomAD
COSM3490021	p.Thr1733Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43620181C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ile1734Thr	missense variant	-	NC_000001.11:g.43620184T>C	NCI-TCGA
rs773899805	p.Ile1735Val	missense variant	-	NC_000001.11:g.43620186A>G	ExAC,gnomAD
rs1240227296	p.Ile1735Thr	missense variant	-	NC_000001.11:g.43620187T>C	gnomAD
rs759036059	p.Val1736Ile	missense variant	-	NC_000001.11:g.43620189G>A	ExAC,gnomAD
COSM464662	p.Leu1738Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43620195C>G	NCI-TCGA Cosmic
rs764519639	p.Thr1739Ala	missense variant	-	NC_000001.11:g.43620198A>G	ExAC,TOPMed,gnomAD
rs1185928664	p.Lys1740Arg	missense variant	-	NC_000001.11:g.43620202A>G	gnomAD
rs1442172384	p.Lys1740Glu	missense variant	-	NC_000001.11:g.43620201A>G	gnomAD
rs765620781	p.Arg1742Trp	missense variant	-	NC_000001.11:g.43620207C>T	ExAC,TOPMed
rs750789308	p.Arg1742Gln	missense variant	-	NC_000001.11:g.43620208G>A	ExAC,gnomAD
rs1178019713	p.Met1744Ile	missense variant	-	NC_000001.11:g.43620215G>A	gnomAD
rs1440607876	p.Gly1745Ala	missense variant	-	NC_000001.11:g.43620217G>C	TOPMed
COSM3490023	p.Arg1746Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43620220G>A	NCI-TCGA Cosmic
rs1450905649	p.His1750Gln	missense variant	-	NC_000001.11:g.43620465C>A	TOPMed,gnomAD
rs1265297751	p.Ala1755Thr	missense variant	-	NC_000001.11:g.43620478G>A	gnomAD
rs1478012102	p.Ala1755Glu	missense variant	-	NC_000001.11:g.43620479C>A	gnomAD
rs757017636	p.Arg1757Cys	missense variant	-	NC_000001.11:g.43620484C>T	ExAC,gnomAD
rs372799990	p.Arg1757His	missense variant	-	NC_000001.11:g.43620485G>A	ESP,ExAC,TOPMed,gnomAD
rs757017636	p.Arg1757Gly	missense variant	-	NC_000001.11:g.43620484C>G	ExAC,gnomAD
rs745550474	p.Ser1758Pro	missense variant	-	NC_000001.11:g.43620487T>C	ExAC,gnomAD
NCI-TCGA novel	p.Ser1758Cys	missense variant	-	NC_000001.11:g.43620488C>G	NCI-TCGA
rs771751666	p.Ala1759Val	missense variant	-	NC_000001.11:g.43620491C>T	ExAC,gnomAD
rs779513130	p.Arg1760Leu	missense variant	-	NC_000001.11:g.43620494G>T	ExAC,TOPMed,gnomAD
rs779513130	p.Arg1760His	missense variant	-	NC_000001.11:g.43620494G>A	ExAC,TOPMed,gnomAD
rs1385558867	p.Arg1760Cys	missense variant	-	NC_000001.11:g.43620493C>T	gnomAD
rs1223441079	p.Tyr1763Phe	missense variant	-	NC_000001.11:g.43620503A>T	TOPMed,gnomAD
rs1276775648	p.Val1765Ile	missense variant	-	NC_000001.11:g.43620508G>A	gnomAD
rs1323663408	p.Val1766Ala	missense variant	-	NC_000001.11:g.43620512T>C	gnomAD
rs770277923	p.Asp1767Ala	missense variant	-	NC_000001.11:g.43620515A>C	ExAC,gnomAD
NCI-TCGA novel	p.Asp1767His	missense variant	-	NC_000001.11:g.43620514G>C	NCI-TCGA
rs773594682	p.Pro1768Leu	missense variant	-	NC_000001.11:g.43620518C>T	ExAC,TOPMed,gnomAD
rs1430783133	p.Ala1770Val	missense variant	-	NC_000001.11:g.43620524C>T	TOPMed
rs763330721	p.Ala1770Thr	missense variant	-	NC_000001.11:g.43620523G>A	ExAC,gnomAD
COSM4823522	p.Glu1771Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43620526G>C	NCI-TCGA Cosmic
rs759814948	p.Tyr1772Phe	missense variant	-	NC_000001.11:g.43620530A>T	ExAC,gnomAD
rs767910194	p.Asn1773Ser	missense variant	-	NC_000001.11:g.43620533A>G	ExAC,gnomAD
rs201747944	p.Met1774Val	missense variant	-	NC_000001.11:g.43620535A>G	TOPMed,gnomAD
rs752820297	p.Pro1775Ser	missense variant	-	NC_000001.11:g.43620538C>T	ExAC,TOPMed,gnomAD
rs752820297	p.Pro1775Thr	missense variant	-	NC_000001.11:g.43620538C>A	ExAC,TOPMed,gnomAD
rs913340844	p.Pro1775Leu	missense variant	-	NC_000001.11:g.43620539C>T	gnomAD
rs151136180	p.Arg1780His	missense variant	-	NC_000001.11:g.43620554G>A	ESP,ExAC,TOPMed,gnomAD
rs151136180	p.Arg1780Leu	missense variant	-	NC_000001.11:g.43620554G>T	ESP,ExAC,TOPMed,gnomAD
rs200155899	p.Glu1781Gly	missense variant	-	NC_000001.11:g.43620557A>G	1000Genomes
rs201633718	p.Lys1783Arg	missense variant	-	NC_000001.11:g.43620563A>G	1000Genomes
rs1419632455	p.Thr1785Met	missense variant	-	NC_000001.11:g.43620569C>T	gnomAD
rs201039893	p.Thr1785Ala	missense variant	-	NC_000001.11:g.43620568A>G	1000Genomes,gnomAD
COSM1296475	p.Ala1787Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43620574G>T	NCI-TCGA Cosmic
COSM4008287	p.Ala1787Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43620575C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala1787Thr	missense variant	-	NC_000001.11:g.43620574G>A	NCI-TCGA
COSM909891	p.Arg1788Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43620578G>A	NCI-TCGA Cosmic
rs746786262	p.Arg1788Trp	missense variant	-	NC_000001.11:g.43620577C>T	ExAC,TOPMed,gnomAD
COSM3490025	p.Asp1789Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43620838G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asp1789Gly	missense variant	-	NC_000001.11:g.43620839A>G	NCI-TCGA
COSM3790055	p.Gly1790Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43620842G>A	NCI-TCGA Cosmic
COSM3805343	p.Gly1790Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43620841G>C	NCI-TCGA Cosmic
rs953278964	p.Gly1790Arg	missense variant	-	NC_000001.11:g.43620841G>A	TOPMed
NCI-TCGA novel	p.Gln1791Glu	missense variant	-	NC_000001.11:g.43620844C>G	NCI-TCGA
rs1427661601	p.Gln1791His	missense variant	-	NC_000001.11:g.43620846G>C	gnomAD
rs747165352	p.Arg1796Trp	missense variant	-	NC_000001.11:g.43620859C>T	ExAC,gnomAD
rs768967831	p.Arg1796Leu	missense variant	-	NC_000001.11:g.43620860G>T	ExAC,gnomAD
rs768967831	p.Arg1796Gln	missense variant	-	NC_000001.11:g.43620860G>A	ExAC,gnomAD
rs1369562264	p.Gly1807Val	missense variant	-	NC_000001.11:g.43620893G>T	gnomAD
rs762685023	p.Val1808Met	missense variant	-	NC_000001.11:g.43620895G>A	ExAC,gnomAD
rs1220283248	p.Pro1809Leu	missense variant	-	NC_000001.11:g.43620899C>T	TOPMed,gnomAD
rs1370427192	p.Thr1811Ile	missense variant	-	NC_000001.11:g.43620905C>T	TOPMed,gnomAD
rs1201742137	p.Gly1812Asp	missense variant	-	NC_000001.11:g.43620908G>A	gnomAD
rs1220801019	p.Glu1813Asp	missense variant	-	NC_000001.11:g.43620912G>C	TOPMed
rs1309029917	p.Gly1814Glu	missense variant	-	NC_000001.11:g.43620914G>A	gnomAD
rs1308023685	p.Ile1816Val	missense variant	-	NC_000001.11:g.43620919A>G	TOPMed
rs1191150782	p.Ile1819Thr	missense variant	-	NC_000001.11:g.43620929T>C	gnomAD
rs752086534	p.Gly1820Trp	missense variant	-	NC_000001.11:g.43620931G>T	ExAC,gnomAD
rs1171906145	p.Gln1821Leu	missense variant	-	NC_000001.11:g.43620935A>T	gnomAD
rs972813693	p.Lys1824Asn	missense variant	-	NC_000001.11:g.43620945G>T	-
rs1216259641	p.Lys1824Glu	missense variant	-	NC_000001.11:g.43620943A>G	TOPMed
rs1408438550	p.Gln1831His	missense variant	-	NC_000001.11:g.43620966G>T	gnomAD
rs1339202074	p.Gly1833Glu	missense variant	-	NC_000001.11:g.43620971G>A	TOPMed
rs755667245	p.Pro1834Ser	missense variant	-	NC_000001.11:g.43620973C>T	ExAC,TOPMed,gnomAD
rs1292169218	p.Thr1836Ser	missense variant	-	NC_000001.11:g.43620979A>T	TOPMed
rs746411435	p.Thr1836Lys	missense variant	-	NC_000001.11:g.43620980C>A	ExAC,gnomAD
rs746411435	p.Thr1836Met	missense variant	-	NC_000001.11:g.43620980C>T	ExAC,gnomAD
rs1212745213	p.Val1843Met	missense variant	-	NC_000001.11:g.43621104G>A	gnomAD
rs1234724539	p.Arg1845Cys	missense variant	-	NC_000001.11:g.43621110C>T	TOPMed
rs755382808	p.Gly1847Arg	missense variant	-	NC_000001.11:g.43621116G>A	ExAC,TOPMed,gnomAD
rs202216723	p.Val1848Ala	missense variant	-	NC_000001.11:g.43621120T>C	1000Genomes,TOPMed
rs1386581708	p.Val1848Leu	missense variant	-	NC_000001.11:g.43621119G>T	TOPMed
rs1010214181	p.Ile1850Leu	missense variant	-	NC_000001.11:g.43621125A>C	TOPMed
rs1010214181	p.Ile1850Val	missense variant	-	NC_000001.11:g.43621125A>G	TOPMed
rs748431718	p.Ile1850Thr	missense variant	-	NC_000001.11:g.43621126T>C	ExAC,gnomAD
rs1441420459	p.Thr1851Ser	missense variant	-	NC_000001.11:g.43621129C>G	TOPMed,gnomAD
rs1384223816	p.Ile1854Thr	missense variant	-	NC_000001.11:g.43621138T>C	gnomAD
rs770052959	p.Ile1854Val	missense variant	-	NC_000001.11:g.43621137A>G	ExAC,gnomAD
rs150260807	p.Val1855Ile	missense variant	-	NC_000001.11:g.43621140G>A	ESP,ExAC,TOPMed,gnomAD
rs774364089	p.Arg1858Cys	missense variant	-	NC_000001.11:g.43621149C>T	ExAC,gnomAD
rs1175556576	p.Arg1858His	missense variant	-	NC_000001.11:g.43621150G>A	TOPMed
rs1378513685	p.Met1859Val	missense variant	-	NC_000001.11:g.43621152A>G	gnomAD
NCI-TCGA novel	p.Met1859Lys	missense variant	-	NC_000001.11:g.43621153T>A	NCI-TCGA
NCI-TCGA novel	p.Met1859Ter	stop gained	-	NC_000001.11:g.43621151_43621152insTAGCTACTCAGGAGGAGGCTGAGGT	NCI-TCGA
COSM6126665	p.Arg1860Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43621156G>T	NCI-TCGA Cosmic
rs373895014	p.Arg1860His	missense variant	-	NC_000001.11:g.43621156G>A	ESP,ExAC,TOPMed,gnomAD
rs771936458	p.Tyr1861Asp	missense variant	-	NC_000001.11:g.43621158T>G	ExAC,TOPMed,gnomAD
rs1143702	p.Tyr1861Ter	stop gained	-	NC_000001.11:g.43621160C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1349236746	p.Tyr1861Cys	missense variant	-	NC_000001.11:g.43621159A>G	TOPMed,gnomAD
rs771936458	p.Tyr1861His	missense variant	-	NC_000001.11:g.43621158T>C	ExAC,TOPMed,gnomAD
rs1349236746	p.Tyr1861Phe	missense variant	-	NC_000001.11:g.43621159A>T	TOPMed,gnomAD
rs763894460	p.Val1864Met	missense variant	-	NC_000001.11:g.43621167G>A	ExAC,gnomAD
rs761408146	p.Asp1866Asn	missense variant	-	NC_000001.11:g.43621173G>A	ExAC,TOPMed,gnomAD
rs1351651395	p.Met1867Leu	missense variant	-	NC_000001.11:g.43621176A>T	TOPMed,gnomAD
rs766934711	p.Met1867Ile	missense variant	-	NC_000001.11:g.43621178G>T	ExAC,TOPMed,gnomAD
rs1351651395	p.Met1867Val	missense variant	-	NC_000001.11:g.43621176A>G	TOPMed,gnomAD
COSM4008291	p.Met1867Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43621177T>A	NCI-TCGA Cosmic
rs766934711	p.Met1867Ile	missense variant	-	NC_000001.11:g.43621178G>A	ExAC,TOPMed,gnomAD
rs752128149	p.Gln1869Pro	missense variant	-	NC_000001.11:g.43621183A>C	ExAC,gnomAD
rs781600148	p.Val1871Met	missense variant	-	NC_000001.11:g.43621188G>A	ExAC,gnomAD
rs753061964	p.Leu1874Arg	missense variant	-	NC_000001.11:g.43621198T>G	ExAC,gnomAD
rs990623648	p.Leu1874Val	missense variant	-	NC_000001.11:g.43621197C>G	gnomAD
rs756325478	p.Arg1875His	missense variant	-	NC_000001.11:g.43621201G>A	ExAC,gnomAD
rs368302488	p.Thr1876Ile	missense variant	-	NC_000001.11:g.43621204C>T	ESP,ExAC,TOPMed,gnomAD
rs1446869120	p.Gln1877His	missense variant	-	NC_000001.11:g.43621208G>C	gnomAD
COSM909892	p.Arg1878Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43621209C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg1878His	missense variant	-	NC_000001.11:g.43621210G>A	NCI-TCGA
rs1376848279	p.Met1881Ile	missense variant	-	NC_000001.11:g.43621220G>A	TOPMed
rs962970239	p.Thr1884Ala	missense variant	-	NC_000001.11:g.43621227A>G	TOPMed,gnomAD
rs962970239	p.Thr1884Ser	missense variant	-	NC_000001.11:g.43621227A>T	TOPMed,gnomAD
rs1342550191	p.Asp1886Gly	missense variant	-	NC_000001.11:g.43621936A>G	gnomAD
rs200249684	p.Gln1889Arg	missense variant	-	NC_000001.11:g.43621945A>G	1000Genomes,ExAC,gnomAD
rs141490430	p.Arg1893His	missense variant	-	NC_000001.11:g.43621957G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs986176825	p.Arg1893Cys	missense variant	-	NC_000001.11:g.43621956C>T	TOPMed,gnomAD
rs764413298	p.Ala1894Val	missense variant	-	NC_000001.11:g.43621960C>T	ExAC,TOPMed,gnomAD
rs757485025	p.Leu1899Phe	missense variant	-	NC_000001.11:g.43621974C>T	ExAC,gnomAD
rs750446848	p.Gly1900Ser	missense variant	-	NC_000001.11:g.43621977G>A	ExAC,TOPMed,gnomAD
rs1384098301	p.Ser1901Ile	missense variant	-	NC_000001.11:g.43621981G>T	gnomAD
rs1458174624	p.Phe1902Ile	missense variant	-	NC_000001.11:g.43621983T>A	TOPMed
COSM426318	p.His1904Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43621989C>A	NCI-TCGA Cosmic
rs145316280	p.Tyr1905Cys	missense variant	-	NC_000001.11:g.43621993A>G	ESP,gnomAD
rs1287556112	p.Thr1907Met	missense variant	-	NC_000001.11:g.43621999C>T	TOPMed,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0001206	Acromegaly	disease	BEFREE
C0003850	Arteriosclerosis	disease	BEFREE
C0004153	Atherosclerosis	disease	BEFREE
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0007131	Non-Small Cell Lung Carcinoma	disease	BEFREE
C0009240	Cognition	phenotype	GWASCAT
C0021704	Intelligence	phenotype	GWASCAT
C0024623	Malignant neoplasm of stomach	disease	CTD_human
C0025202	melanoma	disease	BEFREE
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0027819	Neuroblastoma	group	BEFREE
C0028754	Obesity	disease	BEFREE;RGD
C0029456	Osteoporosis	disease	BEFREE
C0031511	Pheochromocytoma	disease	BEFREE
C0032000	Pituitary Adenoma	disease	BEFREE
C0036341	Schizophrenia	disease	GWASCAT
C0038356	Stomach Neoplasms	group	CTD_human
C0038586	Substance Use Disorders	group	BEFREE
C0175755	Congenital absent nipple	disease	BEFREE
C0206093	Neuroectodermal Tumors	disease	BEFREE
C0235874	Disease Exacerbation	phenotype	CTD_human
C0238462	Medullary carcinoma of thyroid	disease	BEFREE
C0278488	Carcinoma breast stage IV	disease	BEFREE
C0279735	TSH secreting adenoma	disease	BEFREE
C0345967	Malignant mesothelioma	disease	CTD_human
C0376358	Malignant neoplasm of prostate	disease	BEFREE
C0425795	Absent nipple (finding)	phenotype	HPO
C0426429	Broad nasal tip	phenotype	HPO
C0432357	Congenital absence of breast with absent nipple	disease	BEFREE;ORPHANET
C0600139	Prostate carcinoma	disease	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE
C0700095	Central neuroblastoma	disease	BEFREE
C1142533	Smooth philtrum	phenotype	HPO
C1708349	Hereditary Diffuse Gastric Cancer	disease	CTD_human
C1842680	Small earlobe	phenotype	HPO
C3539878	Triple Negative Breast Neoplasms	disease	BEFREE
C3669246	Mammary adenocarcinoma	disease	BEFREE
C4014918	BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2	disease	CLINVAR;CTD_human

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0004725	protein tyrosine phosphatase activity	IDA
GO:0004725	protein tyrosine phosphatase activity	IBA
GO:0004725	protein tyrosine phosphatase activity	IMP
GO:0005001	transmembrane receptor protein tyrosine phosphatase activity	TAS
GO:0008201	heparin binding	IEA
GO:0035373	chondroitin sulfate proteoglycan binding	IEA
GO:0044877	protein-containing complex binding	IEA
GO:0050839	cell adhesion molecule binding	IPI

GO:Biological Process

GO ID	GO Term	Evidence
GO:0006470	protein dephosphorylation	IBA
GO:0007155	cell adhesion	TAS
GO:0007185	transmembrane receptor protein tyrosine phosphatase signaling pathway	TAS
GO:0016477	cell migration	IMP
GO:0031102	neuron projection regeneration	IEA
GO:0035335	peptidyl-tyrosine dephosphorylation	IBA
GO:0035335	peptidyl-tyrosine dephosphorylation	IMP
GO:0048679	regulation of axon regeneration	IEA
GO:0099560	synaptic membrane adhesion	IBA
GO:0099560	synaptic membrane adhesion	IDA
GO:0099560	synaptic membrane adhesion	IMP
GO:1900121	negative regulation of receptor binding	IMP

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005886	plasma membrane	TAS
GO:0005887	integral component of plasma membrane	TAS
GO:0043005	neuron projection	IEA
GO:0043025	neuronal cell body	IEA
GO:0070062	extracellular exosome	HDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-112316	Neuronal System	TAS
R-HSA-388844	Receptor-type tyrosine-protein phosphatases	TAS
R-HSA-6794362	Protein-protein interactions at synapses	TAS
R-HSA-8849932	Synaptic adhesion-like molecules	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
D015056	1-Methyl-3-isobutylxanthine	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in decreased expression of PTPRF mRNA	28628672
C405943	2-(oxalylamino)benzoic acid	2-(oxalylamino)benzoic acid analog results in decreased activity of PTPRF protein	10744717
C023035	3,4,5,3',4'-pentachlorobiphenyl	3,4,5,3',4'-pentachlorobiphenyl results in decreased expression of PTPRF mRNA	20959002
C017906	3-dinitrobenzene	3-dinitrobenzene results in increased expression of PTPRF mRNA	21983209
D015124	8-Bromo Cyclic Adenosine Monophosphate	8-Bromo Cyclic Adenosine Monophosphate results in decreased expression of PTPRF mRNA	22079614
D000082	Acetaminophen	Acetaminophen results in decreased expression of PTPRF mRNA	21420995
D000082	Acetaminophen	Acetaminophen affects the expression of PTPRF mRNA	17562736
D020106	Acrylamide	Acrylamide results in decreased expression of PTPRF mRNA	28959563
D016604	Aflatoxin B1	Aflatoxin B1 affects the methylation of PTPRF intron	30157460
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of PTPRF gene	27153756
C029753	aflatoxin B2	aflatoxin B2 results in increased methylation of PTPRF intron	30157460
D000452	Aldrin	Aldrin results in increased expression of PTPRF mRNA	18579281
D000638	Amiodarone	Amiodarone results in increased expression of PTPRF mRNA	19774075
D000638	Amiodarone	Amiodarone affects the expression of PTPRF mRNA	19483382
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of PTPRF mRNA	16483693
C015001	arsenite	arsenite results in increased expression of PTPRF mRNA	18191166
D001553	Benzbromarone	Benzbromarone affects the expression of PTPRF mRNA	19483382
D001554	Benzene	[Benzene co-treated with methylmercury II co-treated with Trichloroethylene] results in decreased expression of PTPRF mRNA	17905399
D001564	Benzo(a)pyrene	Benzo(a)pyrene affects the methylation of PTPRF intron	30157460
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of PTPRF mRNA	22228805
C026487	benzo(e)pyrene	benzo(e)pyrene results in increased methylation of PTPRF intron	30157460
C006780	bisphenol A	bisphenol A affects the expression of PTPRF mRNA	21786754
C006780	bisphenol A	bisphenol A results in decreased methylation of PTPRF promoter	27312807
C006780	bisphenol A	bisphenol A affects the expression of PTPRF mRNA	25181051; 30903817;
C006780	bisphenol A	bisphenol A results in increased methylation of PTPRF gene	28505145
C000611646	bisphenol F	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in decreased expression of PTPRF mRNA	28628672
D002065	Buspirone	Buspirone results in decreased expression of PTPRF mRNA	24136188
D019256	Cadmium Chloride	Cadmium Chloride results in decreased expression of PTPRF mRNA	19010381
D002117	Calcitriol	Calcitriol results in increased expression of PTPRF mRNA	26485663
D002220	Carbamazepine	Carbamazepine affects the expression of PTPRF mRNA	25979313
D002251	Carbon Tetrachloride	Carbon Tetrachloride affects the expression of PTPRF mRNA	17484886
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in decreased expression of PTPRF mRNA	31150632
D002251	Carbon Tetrachloride	schizandrin B inhibits the reaction [Carbon Tetrachloride results in decreased expression of PTPRF mRNA]	31150632
C054133	casticin	casticin results in decreased expression of PTPRF mRNA	28444820
C100187	chloropicrin	chloropicrin results in decreased expression of PTPRF mRNA	26352163; 28476498;
D004390	Chlorpyrifos	Chlorpyrifos results in decreased expression of PTPRF mRNA	18668222
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased expression of PTPRF mRNA	20938992
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of PTPRF gene	20938992
C074702	chromium hexavalent ion	chromium hexavalent ion affects the expression of PTPRF mRNA	28472532
D002945	Cisplatin	[Cisplatin co-treated with Panobinostat] affects the expression of PTPRF mRNA	21791302
D002945	Cisplatin	Cisplatin results in decreased expression of PTPRF mRNA	27392435; 27594783;
D002990	Clobetasol	Clobetasol results in decreased expression of PTPRF mRNA	27462272
D002994	Clofibrate	Clofibrate results in decreased expression of PTPRF mRNA	23811191
D002994	Clofibrate	Clofibrate affects the expression of PTPRF mRNA	19483382
D002995	Clofibric Acid	Clofibric Acid affects the expression of PTPRF mRNA	17602206
D002995	Clofibric Acid	[Diethylnitrosamine co-treated with Clofibric Acid] affects the expression of PTPRF mRNA	17602206
C018021	cobaltous chloride	cobaltous chloride results in decreased expression of PTPRF mRNA	19320972; 19376846;
D003314	Corn Oil	Corn Oil affects the expression of PTPRF mRNA	16360708
D003375	Coumestrol	[Coumestrol co-treated with Resveratrol] results in decreased expression of PTPRF mRNA	19167446
D003375	Coumestrol	Coumestrol results in decreased expression of PTPRF mRNA	19167446
D016572	Cyclosporine	Cyclosporine results in decreased expression of PTPRF mRNA	20106945; 27989131;
D003907	Dexamethasone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in decreased expression of PTPRF mRNA	28628672
C000944	dicrotophos	dicrotophos results in increased expression of PTPRF mRNA	28302478
D004052	Diethylnitrosamine	[Diethylnitrosamine co-treated with Clofibric Acid] affects the expression of PTPRF mRNA	17602206
D004147	Dioxins	Dioxins affects the expression of PTPRF mRNA	20463971
D004317	Doxorubicin	Doxorubicin results in decreased expression of PTPRF mRNA	29803840
D004317	Doxorubicin	Doxorubicin results in increased expression of PTPRF mRNA	25896364
D060766	Drinking Water	Drinking Water results in decreased expression of PTPRF mRNA	19444861
D013759	Dronabinol	Dronabinol affects the methylation of PTPRF gene	26044905
D004726	Endosulfan	Endosulfan results in decreased expression of PTPRF mRNA	29391264
D004785	Environmental Pollutants	Environmental Pollutants results in decreased expression of PTPRF mRNA	12655031
D004785	Environmental Pollutants	Environmental Pollutants results in increased expression of PTPRF mRNA	12655031
D000431	Ethanol	Ethanol affects the splicing of PTPRF mRNA	30319688
D000431	Ethanol	Ethanol results in increased expression of PTPRF mRNA	30319688
D005001	Ethionine	Ethionine affects the expression of PTPRF mRNA	19483382
D011345	Fenofibrate	Fenofibrate affects the expression of PTPRF mRNA	20801182
D017313	Fenretinide	Fenretinide results in increased expression of PTPRF mRNA	28973697
D005419	Flavonoids	Flavonoids results in decreased expression of PTPRF mRNA	18035473
D005485	Flutamide	Flutamide results in decreased expression of PTPRF mRNA	24136188; 24793618;
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased expression of PTPRF mRNA	20938992
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of PTPRF gene	20938992
D004397	Fonofos	Fonofos results in increased methylation of PTPRF promoter	22847954
D005557	Formaldehyde	Formaldehyde results in decreased expression of PTPRF mRNA	20655997
D005978	Glutathione	Glutathione deficiency results in decreased expression of PTPRF mRNA	20621112
D006108	Graphite	Graphite affects the expression of PTPRF mRNA	29933104
C492448	ICG 001	ICG 001 results in increased expression of PTPRF mRNA	26191083
D007213	Indomethacin	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in decreased expression of PTPRF mRNA	28628672
D007545	Isoproterenol	Isoproterenol results in increased expression of PTPRF mRNA	20003209
D007854	Lead	Lead affects the expression of PTPRF mRNA	28903495
D007854	Lead	Lead affects the splicing of PTPRF mRNA	28903495
D008694	Methamphetamine	Methamphetamine results in decreased expression of PTPRF mRNA	29802913
D008701	Methapyrilene	Methapyrilene results in increased methylation of PTPRF intron	30157460
D008701	Methapyrilene	Methapyrilene results in decreased expression of PTPRF mRNA	30467583
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased expression of PTPRF mRNA	20938992
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of PTPRF gene	20938992
C030957	methylmercury II	[Benzene co-treated with methylmercury II co-treated with Trichloroethylene] results in decreased expression of PTPRF mRNA	17905399
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in decreased expression of PTPRF mRNA	25620056
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in decreased expression of PTPRF mRNA	25620056
C051752	nefazodone	nefazodone results in decreased expression of PTPRF mRNA	24136188
C012655	nimesulide	nimesulide results in decreased expression of PTPRF mRNA	24136188
C558013	NSC 689534	NSC 689534 results in increased expression of PTPRF mRNA	20971185
D009853	Omeprazole	Omeprazole affects the expression of PTPRF mRNA	19483382
C009618	O,O-diethyl O-3,5,6-trichloro-2-pyridyl phosphate	O,O-diethyl O-3,5,6-trichloro-2-pyridyl phosphate results in decreased expression of PTPRF mRNA	21673326
D000077150	Oxaliplatin	[Oxaliplatin co-treated with Topotecan] results in increased expression of PTPRF mRNA	25729387
D000077767	Panobinostat	[Cisplatin co-treated with Panobinostat] affects the expression of PTPRF mRNA	21791302
C016030	pantogab	pantogab results in decreased expression of PTPRF mRNA	17379144
D010278	Parathion	Parathion results in increased methylation of PTPRF promoter	22847954
C076994	perfluorooctane sulfonic acid	perfluorooctane sulfonic acid affects the expression of PTPRF mRNA	19429403
C076994	perfluorooctane sulfonic acid	perfluorooctane sulfonic acid results in decreased expression of PTPRF mRNA	19162173
C023036	perfluorooctanoic acid	perfluorooctanoic acid affects the expression of PTPRF mRNA	19429403
C023036	perfluorooctanoic acid	perfluorooctanoic acid results in decreased expression of PTPRF mRNA	19162173
D010634	Phenobarbital	Phenobarbital affects the expression of PTPRF mRNA	23091169
D010656	Phenylephrine	Phenylephrine results in decreased expression of PTPRF mRNA	18158353
C006253	pirinixic acid	pirinixic acid results in decreased expression of PTPRF mRNA	17426115; 18445702; 23811191;
C006253	pirinixic acid	pirinixic acid affects the expression of PTPRF mRNA	19483382
C006253	pirinixic acid	pirinixic acid results in decreased expression of PTPRF mRNA	19162173; 22484513;
D011192	Potassium Dichromate	Potassium Dichromate results in increased expression of PTPRF protein	23718831
C045950	propiconazole	propiconazole results in decreased expression of PTPRF mRNA	21278054
D011441	Propylthiouracil	Propylthiouracil affects the expression of PTPRF mRNA	19483382
D000077185	Resveratrol	[Coumestrol co-treated with Resveratrol] results in decreased expression of PTPRF mRNA	19167446
D012402	Rotenone	Rotenone results in decreased expression of PTPRF mRNA	28374803
C015499	schizandrin B	schizandrin B inhibits the reaction [Carbon Tetrachloride results in decreased expression of PTPRF mRNA]	31150632
C017947	sodium arsenite	sodium arsenite results in decreased expression of PTPRF mRNA	12377979
C016104	sodium bichromate	sodium bichromate results in decreased expression of PTPRF mRNA	22155349
D012969	Sodium Fluoride	Sodium Fluoride results in increased expression of PTPRF protein	28918527
D012999	Soman	Soman results in increased expression of PTPRF mRNA	19281266
C025462	sulindac sulfide	sulindac sulfide results in decreased expression of PTPRF mRNA	16184548
C061133	tamibarotene	tamibarotene results in decreased expression of PTPRF mRNA	15498508
C012568	terbufos	terbufos results in increased methylation of PTPRF promoter	22847954
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of PTPRF mRNA	24680724
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of PTPRF mRNA	26290441
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of PTPRF mRNA	20959002
D013853	Thioacetamide	Thioacetamide affects the expression of PTPRF mRNA	19483382
C009495	titanium dioxide	titanium dioxide results in increased expression of PTPRF mRNA	27760801
D019772	Topotecan	[Oxaliplatin co-treated with Topotecan] results in increased expression of PTPRF mRNA	25729387
D019772	Topotecan	Topotecan results in increased expression of PTPRF mRNA	25729387
D014212	Tretinoin	Tretinoin results in decreased expression of PTPRF mRNA	15498508; 23724009;
D014241	Trichloroethylene	[Benzene co-treated with methylmercury II co-treated with Trichloroethylene] results in decreased expression of PTPRF mRNA	17905399
C012589	trichostatin A	trichostatin A results in increased expression of PTPRF mRNA	26705709
C001899	triptolide	triptolide results in decreased expression of PTPRF mRNA	23639586
D000077288	Troglitazone	Troglitazone results in decreased expression of PTPRF mRNA	28973697
D014415	Tunicamycin	Tunicamycin results in decreased expression of PTPRF mRNA	17127020
D014635	Valproic Acid	Valproic Acid affects the expression of PTPRF mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in increased expression of PTPRF mRNA	19101580; 23179753; 26705709;
C025643	vinclozolin	vinclozolin affects the expression of PTPRF mRNA	19015723
C025643	vinclozolin	vinclozolin results in decreased expression of PTPRF mRNA	23034163
D014873	Water Pollutants	Water Pollutants results in decreased expression of PTPRF mRNA	23591932

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0025	Alternative splicing
KW-0130	Cell adhesion
KW-1015	Disulfide bond
KW-0325	Glycoprotein
KW-0358	Heparin-binding
KW-0378	Hydrolase
KW-0393	Immunoglobulin domain
KW-0472	Membrane
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-0904	Protein phosphatase
KW-0675	Receptor
KW-1185	Reference proteome
KW-0677	Repeat
KW-0732	Signal
KW-0812	Transmembrane
KW-1133	Transmembrane helix

Interpro

InterPro ID	InterPro Term
IPR003961	FN3_dom
IPR036116	FN3_sf
IPR007110	Ig-like_dom
IPR036179	Ig-like_dom_sf
IPR013783	Ig-like_fold
IPR013098	Ig_I-set
IPR003599	Ig_sub
IPR003598	Ig_sub2
IPR029021	Prot-tyrosine_phosphatase-like
IPR000242	PTPase_domain
IPR016130	Tyr_Pase_AS
IPR003595	Tyr_Pase_cat
IPR000387	TYR_PHOSPHATASE_dom

PROSITE

PROSITE ID	PROSITE Term
PS50853	FN3
PS50835	IG_LIKE
PS00383	TYR_PHOSPHATASE_1
PS50056	TYR_PHOSPHATASE_2
PS50055	TYR_PHOSPHATASE_PTP

Pfam

Pfam ID	Pfam Term
PF00041	fn3
PF07679	I-set
PF00102	Y_phosphatase

Gene: PTPRF

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

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