CleftGeneDB-Search

Gene: MEGF8

Basic information

Tag	Content
Uniprot ID	Q7Z7M0; A8KAY0; O75097;
Entrez ID	1954
Genbank protein ID	AAP35084.1; AAI53881.1; BAA32469.2;
Genbank nucleotide ID	NM_001271938.1; NM_001410.2;
Ensembl protein ID	ENSP00000251268; ENSP00000334219;
Ensembl nucleotide ID	ENSG00000105429
Gene name	Multiple epidermal growth factor-like domains protein 8
Gene symbol	MEGF8
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Acts as a negative regulator of hedgehog signaling.
Sequence	MALGKVLAMA LVLALAVLGS LSPGARAGDC KGQRQVLREA PGFVTDGAGN YSVNGNCEWL 60 IEAPSPQHRI LLDFLFLDTE CTYDYLFVYD GDSPRGPLLA SLSGSTRPPP IEASSGKMLL 120 HLFSDANYNL LGFNASFRFS LCPGGCQSHG QCQPPGVCAC EPGWGGPDCG LQECSAYCGS 180 HGTCASPLGP CRCEPGFLGR ACDLHLWENQ GAGWWHNVSA RDPAFSARIG AAGAFLSPPG 240 LLAVFGGQDL NNALGDLVLY NFSANTWESW DLSPAPAARH SHVAVAWAGS LVLMGGELAD 300 GSLTNDVWAF SPLGRGHWEL LAPPASSSSG PPGLAGHAAA LVDDVWLYVS GGRTPHDLFS 360 SGLFRFRLDS TSGGYWEQVI PAGGRPPAAT GHSMVFHAPS RALLVHGGHR PSTARFSVRV 420 NSTELFHVDR HVWTTLKGRD GLQGPRERAF HTASVLGNYM VVYGGNVHTH YQEEKCYEDG 480 IFFYHLGCHQ WVSGAELAPP GTPEGRAAPP SGRYSHVAAV LGGSVLLVAG GYSGRPRGDL 540 MAYKVPPFVF QAPAPDYHLD YCSMYTDHSV CSRDPECSWC QGACQAAPPP GTPLGACPAA 600 SCLGLGRLLG DCQACLAFSS PTAPPRGPGT LGWCVHNESC LPRPEQARCR GEQISGTVGW 660 WGPAPVFVTS LEACVTQSFL PGLHLLTFQQ PPNTSQPDKV SIVRSTTITL TPSAETDVSL 720 VYRGFIYPML PGGPGGPGAE DVAVWTRAQR LHVLARMARG PDTENMEEVG RWVAHQEKET 780 RRLQRPGSAR LFPLPGRDHK YAVEIQGQLN GSAGPGHSEL TLLWDRTGVP GGSEISFFFL 840 EPYRSSSCTS YSSCLGCLAD QGCGWCLTSA TCHLRQGGAH CGDDGAGGSL LVLVPTLCPL 900 CEEHRDCHAC TQDPFCEWHQ STSRKGDAAC SRRGRGRGAL KSPEECPPLC SQRLTCEDCL 960 ANSSQCAWCQ STHTCFLFAA YLARYPHGGC RGWDDSVHSE PRCRSCDGFL TCHECLQSHE 1020 CGWCGNEDNP TLGRCLQGDF SGPLGGGNCS LWVGEGLGLP VALPARWAYA RCPDVDECRL 1080 GLARCHPRAT CLNTPLSYEC HCQRGYQGDG ISHCNRTCLE DCGHGVCSGP PDFTCVCDLG 1140 WTSDLPPPTP APGPPAPRCS RDCGCSFHSH CRKRGPGFCD ECQDWTWGEH CERCRPGSFG 1200 NATGSRGCRP CQCNGHGDPR RGHCDNLSGL CFCQDHTEGA HCQLCSPGYY GDPRAGGSCF 1260 RECGGRALLT NVSSVALGSR RVGGLLPPGG GAARAGPGLS YCVWVVSATE ELQPCAPGTL 1320 CPPLTLTFSP DSSTPCTLSY VLAFDGFPRF LDTGVVQSDR SLIAAFCGQR RDRPLTVQAL 1380 SGLLVLHWEA NGSSSWGFNA SVGSARCGSG GPGSCPVPQE CVPQDGAAGA GLCRCPQGWA 1440 GPHCRMALCP ENCNAHTGAG TCNQSLGVCI CAEGFGGPDC ATKLDGGQLV WETLMDSRLS 1500 ADTASRFLHR LGHTMVDGPD ATLWMFGGLG LPQGLLGNLY RYSVSERRWT QMLAGAEDGG 1560 PGPSPRSFHA AAYVPAGRGA MYLLGGLTAG GVTRDFWVLN LTTLQWRQEK APQTVELPAV 1620 AGHTLTARRG LSLLLVGGYS PENGFNQQLL EYQLATGTWV SGAQSGTPPT GLYGHSAVYH 1680 EATDSLYVFG GFRFHVELAA PSPELYSLHC PDRTWSLLAP SQGAKRDRMR NVRGSSRGLG 1740 QVPGEQPGSW GFREVRKKMA LWAALAGTGG FLEEISPHLK EPRPRLFHAS ALLGDTMVVL 1800 GGRSDPDEFS SDVLLYQVNC NAWLLPDLTR SASVGPPMEE SVAHAVAAVG SRLYISGGFG 1860 GVALGRLLAL TLPPDPCRLL SSPEACNQSG ACTWCHGACL SGDQAHRLGC GGSPCSPMPR 1920 SPEECRRLRT CSECLARHPR TLQPGDGEAS TPRCKWCTNC PEGACIGRNG SCTSENDCRI 1980 NQREVFWAGN CSEAACGAAD CEQCTREGKC MWTRQFKRTG ETRRILSVQP TYDWTCFSHS 2040 LLNVSPMPVE SSPPLPCPTP CHLLPNCTSC LDSKGADGGW QHCVWSSSLQ QCLSPSYLPL 2100 RCMAGGCGRL LRGPESCSLG CAQATQCALC LRRPHCGWCA WGGQDGGGRC MEGGLSGPRD 2160 GLTCGRPGAS WAFLSCPPED ECANGHHDCN ETQNCHDQPH GYECSCKTGY TMDNMTGLCR 2220 PVCAQGCVNG SCVEPDHCRC HFGFVGRNCS TECRCNRHSE CAGVGARDHC LLCRNHTKGS 2280 HCEQCLPLFV GSAVGGGTCR PCHAFCRGNS HICISRKELQ MSKGEPKKYS LDPEEIENWV 2340 TEGPSEDEAV CVNCQNNSYG EKCESCLQGY FLLDGKCTKC QCNGHADTCN EQDGTGCPCQ 2400 NNTETGTCQG SSPSDRRDCY KYQCAKCRES FHGSPLGGQQ CYRLISVEQE CCLDPTSQTN 2460 CFHEPKRRAL GPGRTVLFGV QPKFTNVDIR LTLDVTFGAV DLYVSTSYDT FVVRVAPDTG 2520 VHTVHIQPPP APPPPPPPAD GGPRGAGDPG GAGASSGPGA PAEPRVREVW PRGLITYVTV 2580 TEPSAVLVVR GVRDRLVITY PHEHHALKSS RFYLLLLGVG DPSGPGANGS ADSQGLLFFR 2640 QDQAHIDLFV FFSVFFSCFF LFLSLCVLLW KAKQALDQRQ EQRRHLQEMT KMASRPFAKV 2700 TVCFPPDPTA PASAWKPAGL PPPAFRRSEP FLAPLLLTGA GGPWGPMGGG CCPPAIPATT 2760 AGLRAGPITL EPTEDGMAGV ATLLLQLPGG PHAPNGACLG SALVTLRHRL HEYCGGGGGA 2820 GGSGHGTGAG RKGLLSQDNL TSMSL 2845

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

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	MEGF8		A0A452EQ38		Capra hircus	Prediction	More>>
1:1 ortholog	MEGF8	1954	Q7Z7M0		Homo sapiens	Prediction	More>>
1:1 ortholog	Megf8	269878	P60882	CPO	Mus musculus	Publication	More>>
1:1 ortholog	MEGF8		A0A2I3S6U5		Pan troglodytes	Prediction	More>>
1:1 ortholog	MEGF8	100513862	F1RGK2		Sus scrofa	Prediction	More>>
1:1 ortholog	Megf8	114029	R9PXW3		Rattus norvegicus	Prediction	More>>
1:1 ortholog	megf8	791154	F1QBZ9		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
COSM1304664	p.Ala2Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42326247G>A	NCI-TCGA Cosmic
rs1234278549	p.Ala2Asp	missense variant	-	NC_000019.10:g.42326248C>A	gnomAD
NCI-TCGA novel	p.Gly4Asp	missense variant	-	NC_000019.10:g.42326254G>A	NCI-TCGA
COSM997333	p.Lys5Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42326258G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala8Val	missense variant	-	NC_000019.10:g.42326266C>T	NCI-TCGA
rs1029623509	p.Met9Ile	missense variant	-	NC_000019.10:g.42326270G>C	TOPMed
COSM6150887	p.Met9Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42326270G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala10Thr	missense variant	-	NC_000019.10:g.42326271G>A	NCI-TCGA
rs559809654	p.Ala10Val	missense variant	-	NC_000019.10:g.42326272C>T	1000Genomes,ExAC,gnomAD
rs769597326	p.Val12Leu	missense variant	-	NC_000019.10:g.42326277G>C	ExAC,gnomAD
rs1050352479	p.Ala16Gly	missense variant	-	NC_000019.10:g.42326290C>G	TOPMed
rs749510496	p.Val17Leu	missense variant	-	NC_000019.10:g.42326292G>C	ExAC,gnomAD
rs1291135217	p.Leu18Pro	missense variant	-	NC_000019.10:g.42326296T>C	TOPMed
rs530058933	p.Ser20Leu	missense variant	-	NC_000019.10:g.42326302C>T	1000Genomes
rs1475448824	p.Ser22Cys	missense variant	-	NC_000019.10:g.42326308C>G	gnomAD
rs1475448824	p.Ser22Phe	missense variant	-	NC_000019.10:g.42326308C>T	gnomAD
rs771011541	p.Ser22Pro	missense variant	-	NC_000019.10:g.42326307T>C	ExAC,gnomAD
rs774347513	p.Pro23Leu	missense variant	-	NC_000019.10:g.42326311C>T	ExAC,gnomAD
rs760067083	p.Gly24Arg	missense variant	-	NC_000019.10:g.42326313G>C	ExAC,gnomAD
rs1469583638	p.Gly24Glu	missense variant	-	NC_000019.10:g.42326314G>A	gnomAD
rs377001753	p.Arg26Leu	missense variant	-	NC_000019.10:g.42326320G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1213786952	p.Arg26Trp	missense variant	-	NC_000019.10:g.42326319C>T	TOPMed
rs377001753	p.Arg26Gln	missense variant	-	NC_000019.10:g.42326320G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs760987793	p.Ala27Thr	missense variant	-	NC_000019.10:g.42326322G>A	ExAC,gnomAD
COSM3362891	p.Gly28Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42326326G>C	NCI-TCGA Cosmic
rs1375040470	p.Gly28Glu	missense variant	-	NC_000019.10:g.42326326G>A	gnomAD
rs750104104	p.Asp29His	missense variant	-	NC_000019.10:g.42326328G>C	ExAC,TOPMed,gnomAD
rs750104104	p.Asp29Tyr	missense variant	-	NC_000019.10:g.42326328G>T	ExAC,TOPMed,gnomAD
rs750104104	p.Asp29Asn	missense variant	-	NC_000019.10:g.42326328G>A	ExAC,TOPMed,gnomAD
rs765996558	p.Asp29Val	missense variant	-	NC_000019.10:g.42326329A>T	ExAC,gnomAD
rs1238968368	p.Cys30Tyr	missense variant	-	NC_000019.10:g.42326332G>A	gnomAD
rs751060296	p.Gly32Glu	missense variant	-	NC_000019.10:g.42326338G>A	ExAC,gnomAD
rs1280588246	p.Gly32Arg	missense variant	-	NC_000019.10:g.42326337G>A	gnomAD
rs1279212662	p.Arg34Gln	missense variant	-	NC_000019.10:g.42326344G>A	gnomAD
rs754511848	p.Gln35Arg	missense variant	-	NC_000019.10:g.42326347A>G	ExAC,gnomAD
rs781027989	p.Val36Gly	missense variant	-	NC_000019.10:g.42326350T>G	ExAC,gnomAD
rs752669700	p.Arg38Gln	missense variant	-	NC_000019.10:g.42326356G>A	ExAC,gnomAD
rs752669700	p.Arg38Pro	missense variant	-	NC_000019.10:g.42326356G>C	ExAC,gnomAD
rs1339893627	p.Arg38Trp	missense variant	-	NC_000019.10:g.42326355C>T	TOPMed
rs1017586579	p.Ala40Val	missense variant	-	NC_000019.10:g.42326362C>T	gnomAD
rs755931805	p.Pro41Ser	missense variant	-	NC_000019.10:g.42326364C>T	ExAC,gnomAD
rs973854876	p.Gly42Arg	missense variant	-	NC_000019.10:g.42326367G>C	TOPMed
rs777559070	p.Val44Leu	missense variant	-	NC_000019.10:g.42326373G>T	ExAC,gnomAD
rs1394509514	p.Thr45Arg	missense variant	-	NC_000019.10:g.42326377C>G	TOPMed,gnomAD
rs1394509514	p.Thr45Met	missense variant	-	NC_000019.10:g.42326377C>T	TOPMed,gnomAD
rs1175690557	p.Gly47Cys	missense variant	-	NC_000019.10:g.42326382G>T	gnomAD
rs749526205	p.Ala48Val	missense variant	-	NC_000019.10:g.42326386C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asn50Lys	missense variant	-	NC_000019.10:g.42326393C>A	NCI-TCGA
rs761004605	p.Val53Ile	missense variant	-	NC_000019.10:g.42326400G>A	TOPMed,gnomAD
rs1433737242	p.Asn54Ser	missense variant	-	NC_000019.10:g.42326404A>G	TOPMed,gnomAD
rs771093365	p.Gly55Ala	missense variant	-	NC_000019.10:g.42326407G>C	ExAC,gnomAD
rs1347918863	p.Cys57Ser	missense variant	-	NC_000019.10:g.42326412T>A	gnomAD
rs778995883	p.Glu58Lys	missense variant	-	NC_000019.10:g.42326415G>A	ExAC,TOPMed,gnomAD
rs745986905	p.Leu60His	missense variant	-	NC_000019.10:g.42326422T>A	ExAC,gnomAD
rs1338583541	p.Ile61Phe	missense variant	-	NC_000019.10:g.42326424A>T	TOPMed,gnomAD
rs1011874976	p.Pro64Leu	missense variant	-	NC_000019.10:g.42333608C>T	TOPMed
rs758472569	p.Pro64Ala	missense variant	-	NC_000019.10:g.42333607C>G	ExAC,TOPMed,gnomAD
rs780112441	p.Ser65Gly	missense variant	-	NC_000019.10:g.42333610A>G	ExAC,gnomAD
rs536773914	p.Ser65Arg	missense variant	-	NC_000019.10:g.42333612C>A	1000Genomes,ExAC,gnomAD
rs769153746	p.Arg69Trp	missense variant	-	NC_000019.10:g.42333622C>T	ExAC,TOPMed,gnomAD
rs777251009	p.Arg69Gln	missense variant	-	NC_000019.10:g.42333623G>A	ExAC,TOPMed,gnomAD
rs1395820372	p.Thr79Pro	missense variant	-	NC_000019.10:g.42333652A>C	gnomAD
COSM3797144	p.Glu80Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42333655G>A	NCI-TCGA Cosmic
COSM4926092	p.Glu80Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000019.10:g.42333655G>T	NCI-TCGA Cosmic
rs748576204	p.Thr82Met	missense variant	-	NC_000019.10:g.42333662C>T	ExAC,TOPMed,gnomAD
rs372955721	p.Val88Met	missense variant	-	NC_000019.10:g.42333679G>A	ESP,ExAC,TOPMed,gnomAD
rs369362097	p.Gly91Ser	missense variant	-	NC_000019.10:g.42333688G>A	ESP,ExAC,TOPMed,gnomAD
rs764131985	p.Asp92Asn	missense variant	-	NC_000019.10:g.42333691G>A	ExAC,gnomAD
rs200910137	p.Ser93Phe	missense variant	-	NC_000019.10:g.42333695C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200910137	p.Ser93Cys	missense variant	-	NC_000019.10:g.42333695C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs570125469	p.Pro94Leu	missense variant	-	NC_000019.10:g.42333698C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs376057779	p.Arg95Gly	missense variant	-	NC_000019.10:g.42333700C>G	ESP,ExAC,TOPMed,gnomAD
rs376057779	p.Arg95Ter	stop gained	-	NC_000019.10:g.42333700C>T	ESP,ExAC,TOPMed,gnomAD
rs758585947	p.Arg95Gln	missense variant	-	NC_000019.10:g.42333701G>A	ExAC,TOPMed,gnomAD
rs780016069	p.Gly96Ala	missense variant	-	NC_000019.10:g.42333704G>C	ExAC,TOPMed,gnomAD
rs370744518	p.Gly96Trp	missense variant	-	NC_000019.10:g.42333703G>T	ESP
rs780016069	p.Gly96Glu	missense variant	-	NC_000019.10:g.42333704G>A	ExAC,TOPMed,gnomAD
rs754995245	p.Pro97Ala	missense variant	-	NC_000019.10:g.42333706C>G	ExAC,TOPMed,gnomAD
rs754995245	p.Pro97Thr	missense variant	-	NC_000019.10:g.42333706C>A	ExAC,TOPMed,gnomAD
rs748664087	p.Pro97Leu	missense variant	-	NC_000019.10:g.42333707C>T	ExAC,TOPMed,gnomAD
rs745530684	p.Ala100Thr	missense variant	-	NC_000019.10:g.42333715G>A	ExAC,gnomAD
rs1354759014	p.Gly104Ala	missense variant	-	NC_000019.10:g.42333728G>C	TOPMed,gnomAD
rs989955864	p.Ser105Asn	missense variant	-	NC_000019.10:g.42333731G>A	TOPMed
rs989955864	p.Ser105Thr	missense variant	-	NC_000019.10:g.42333731G>C	TOPMed
rs774975242	p.Arg107Ter	stop gained	-	NC_000019.10:g.42333736C>T	ExAC,TOPMed,gnomAD
rs760280227	p.Arg107Gln	missense variant	-	NC_000019.10:g.42333737G>A	ExAC,gnomAD
rs1373206010	p.Pro108Thr	missense variant	-	NC_000019.10:g.42333739C>A	gnomAD
rs201353508	p.Pro108Leu	missense variant	-	NC_000019.10:g.42333740C>T	TOPMed,gnomAD
RCV000500541	p.Pro109Leu	missense variant	-	NC_000019.10:g.42333743C>T	ClinVar
rs768036287	p.Pro109Gln	missense variant	-	NC_000019.10:g.42333743C>A	ExAC,TOPMed,gnomAD
rs768036287	p.Pro109Leu	missense variant	-	NC_000019.10:g.42333743C>T	ExAC,TOPMed,gnomAD
rs183986572	p.Pro110Thr	missense variant	-	NC_000019.10:g.42333745C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1306126023	p.Ile111Leu	missense variant	-	NC_000019.10:g.42333748A>C	TOPMed,gnomAD
rs1306126023	p.Ile111Val	missense variant	-	NC_000019.10:g.42333748A>G	TOPMed,gnomAD
rs763111888	p.Glu112Lys	missense variant	-	NC_000019.10:g.42333751G>A	ExAC,gnomAD
rs766677631	p.Glu112Asp	missense variant	-	NC_000019.10:g.42333753A>C	ExAC,gnomAD
rs188320625	p.Ala113Thr	missense variant	-	NC_000019.10:g.42333754G>A	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Ser115Ter	stop gained	-	NC_000019.10:g.42333761C>G	NCI-TCGA
COSM5150213	p.Ser115Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42333760T>A	NCI-TCGA Cosmic
rs200462288	p.Gly116Asp	missense variant	-	NC_000019.10:g.42333764G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1369969812	p.His121Tyr	missense variant	-	NC_000019.10:g.42334016C>T	gnomAD
COSM997335	p.His121Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42334017A>G	NCI-TCGA Cosmic
rs773970699	p.Phe133Tyr	missense variant	-	NC_000019.10:g.42334053T>A	ExAC,gnomAD
rs775833160	p.Ala135Thr	missense variant	-	NC_000019.10:g.42334058G>A	ExAC,TOPMed,gnomAD
rs1213749252	p.Ala135Val	missense variant	-	NC_000019.10:g.42334059C>T	gnomAD
RCV000591181	p.Arg138Cys	missense variant	-	NC_000019.10:g.42334067C>T	ClinVar
rs551896120	p.Arg138His	missense variant	-	NC_000019.10:g.42334068G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs760894078	p.Arg138Cys	missense variant	-	NC_000019.10:g.42334067C>T	ExAC,TOPMed,gnomAD
RCV000538351	p.Pro143Leu	missense variant	Carpenter syndrome 2 (CRPT2)	NC_000019.10:g.42334083C>T	ClinVar
rs765654107	p.Pro143Gln	missense variant	-	NC_000019.10:g.42334083C>A	ExAC,TOPMed,gnomAD
rs765654107	p.Pro143Leu	missense variant	-	NC_000019.10:g.42334083C>T	ExAC,TOPMed,gnomAD
rs1439215715	p.Gln147Ter	stop gained	-	NC_000019.10:g.42334094C>T	TOPMed
rs1201108107	p.Gly150Arg	missense variant	-	NC_000019.10:g.42334103G>A	TOPMed
rs747798007	p.Pro155Leu	missense variant	-	NC_000019.10:g.42334119C>T	ExAC,TOPMed,gnomAD
rs755629942	p.Val157Met	missense variant	-	NC_000019.10:g.42334124G>A	ExAC,TOPMed,gnomAD
rs1363164396	p.Ala159Val	missense variant	-	NC_000019.10:g.42334131C>T	gnomAD
rs762892185	p.Glu161Lys	missense variant	-	NC_000019.10:g.42334136G>A	ExAC,TOPMed,gnomAD
rs770734416	p.Pro162Leu	missense variant	-	NC_000019.10:g.42334140C>T	ExAC,TOPMed,gnomAD
rs1306933159	p.Gly163Asp	missense variant	-	NC_000019.10:g.42334143G>A	TOPMed
rs1291409824	p.Gly163Ser	missense variant	-	NC_000019.10:g.42334142G>A	gnomAD
rs1214708807	p.Gly165Trp	missense variant	-	NC_000019.10:g.42334148G>T	gnomAD
rs79719576	p.Gly166Val	missense variant	-	NC_000019.10:g.42334152G>T	TOPMed,gnomAD
rs762115034	p.Gly166ValPheSerTerUnkUnk	frameshift	-	NC_000019.10:g.42334146G>-	NCI-TCGA,NCI-TCGA Cosmic
rs79719576	p.Gly166Asp	missense variant	-	NC_000019.10:g.42334152G>A	TOPMed,gnomAD
rs1489173434	p.Gly166Cys	missense variant	-	NC_000019.10:g.42334151G>T	gnomAD
rs79719576	p.Gly166Ala	missense variant	-	NC_000019.10:g.42334152G>C	TOPMed,gnomAD
rs774089783	p.Pro167SerPheSerTerUnk	frameshift	-	NC_000019.10:g.42334145_42334146insG	NCI-TCGA,NCI-TCGA Cosmic
rs62114375	p.Pro167Arg	missense variant	-	NC_000019.10:g.42334155C>G	gnomAD
rs62114375	p.Pro167Leu	missense variant	-	NC_000019.10:g.42334155C>T	gnomAD
rs1416065294	p.Leu171Gln	missense variant	-	NC_000019.10:g.42334167T>A	gnomAD
rs1317980856	p.Gln172Ter	stop gained	-	NC_000019.10:g.42334169C>T	gnomAD
rs775920740	p.Glu173Lys	missense variant	-	NC_000019.10:g.42334172G>A	ExAC,gnomAD
rs1369233113	p.Ser175Ala	missense variant	-	NC_000019.10:g.42334178T>G	TOPMed,gnomAD
rs1311477465	p.Ala176Thr	missense variant	-	NC_000019.10:g.42334181G>A	gnomAD
rs764246520	p.Ala176Gly	missense variant	-	NC_000019.10:g.42334182C>G	ExAC,TOPMed,gnomAD
rs1415954874	p.Gly179Cys	missense variant	-	NC_000019.10:g.42334190G>T	gnomAD
rs776522130	p.His181Gln	missense variant	-	NC_000019.10:g.42334198C>A	ExAC,TOPMed,gnomAD
rs1286458673	p.His181Tyr	missense variant	-	NC_000019.10:g.42334196C>T	TOPMed,gnomAD
rs762411505	p.Gly182Ser	missense variant	-	NC_000019.10:g.42334199G>A	ExAC,gnomAD
rs1440854966	p.Gly182Asp	missense variant	-	NC_000019.10:g.42334200G>A	TOPMed
rs750904616	p.Thr183Ile	missense variant	-	NC_000019.10:g.42334203C>T	ExAC,TOPMed,gnomAD
rs1208224988	p.Cys184Phe	missense variant	-	NC_000019.10:g.42334206G>T	gnomAD
rs766668498	p.Ala185Thr	missense variant	-	NC_000019.10:g.42334208G>A	ExAC,TOPMed,gnomAD
rs1189607111	p.Ala185Val	missense variant	-	NC_000019.10:g.42334209C>T	gnomAD
rs111865089	p.Ser186Leu	missense variant	-	NC_000019.10:g.42334212C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs111865089	p.Ser186Trp	missense variant	-	NC_000019.10:g.42334212C>G	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro187Leu	missense variant	-	NC_000019.10:g.42335036C>T	NCI-TCGA
rs1159337483	p.Pro187Ser	missense variant	-	NC_000019.10:g.42335035C>T	gnomAD
rs200037040	p.Gly189Arg	missense variant	-	NC_000019.10:g.42335041G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs756784580	p.Pro190Ser	missense variant	-	NC_000019.10:g.42335044C>T	ExAC,gnomAD
rs1338443214	p.Cys191Phe	missense variant	-	NC_000019.10:g.42335048G>T	gnomAD
rs548945656	p.Arg192Leu	missense variant	-	NC_000019.10:g.42335051G>T	1000Genomes,ExAC,gnomAD
rs778498838	p.Arg192Cys	missense variant	-	NC_000019.10:g.42335050C>T	ExAC,TOPMed,gnomAD
rs548945656	p.Arg192His	missense variant	-	NC_000019.10:g.42335051G>A	1000Genomes,ExAC,gnomAD
rs1328884456	p.Cys193Arg	missense variant	-	NC_000019.10:g.42335053T>C	TOPMed
rs780023172	p.Glu194Lys	missense variant	-	NC_000019.10:g.42335056G>A	ExAC,gnomAD
rs1211874588	p.Glu194Asp	missense variant	-	NC_000019.10:g.42335058G>C	gnomAD
rs1305476517	p.Pro195Leu	missense variant	-	NC_000019.10:g.42335060C>T	TOPMed
rs1252404955	p.Pro195Ser	missense variant	-	NC_000019.10:g.42335059C>T	gnomAD
VAR_069305	p.Gly199Arg	Missense	Carpenter syndrome 2 (CRPT2) [MIM:614976]	-	UniProt
rs201881006	p.Arg200His	missense variant	-	NC_000019.10:g.42335075G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201881006	p.Arg200Leu	missense variant	-	NC_000019.10:g.42335075G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200803481	p.Arg200Cys	missense variant	-	NC_000019.10:g.42335074C>T	ESP,ExAC,TOPMed,gnomAD
COSM997339	p.Leu206Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42335092C>A	NCI-TCGA Cosmic
rs773229520	p.Gln210Lys	missense variant	-	NC_000019.10:g.42335104C>A	ExAC,TOPMed,gnomAD
rs763485160	p.Ala212Val	missense variant	-	NC_000019.10:g.42335111C>T	ExAC,gnomAD
rs374831922	p.Gly213Ala	missense variant	-	NC_000019.10:g.42335114G>C	ESP,ExAC,TOPMed,gnomAD
rs1388166444	p.Asn217Thr	missense variant	-	NC_000019.10:g.42335126A>C	gnomAD
rs774819152	p.Asn217Lys	missense variant	-	NC_000019.10:g.42335127C>A	ExAC,TOPMed,gnomAD
rs767920960	p.Val218Leu	missense variant	-	NC_000019.10:g.42335128G>C	ExAC,TOPMed,gnomAD
rs767920960	p.Val218Met	missense variant	-	NC_000019.10:g.42335128G>A	ExAC,TOPMed,gnomAD
rs1279662802	p.Ser219Ile	missense variant	-	NC_000019.10:g.42335132G>T	TOPMed,gnomAD
COSM294557	p.Ala220Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42335135C>A	NCI-TCGA Cosmic
rs747359795	p.Asp222Asn	missense variant	-	NC_000019.10:g.42335140G>A	ExAC,TOPMed,gnomAD
rs1280075369	p.Pro223Ser	missense variant	-	NC_000019.10:g.42335143C>T	gnomAD
rs1280075369	p.Pro223Thr	missense variant	-	NC_000019.10:g.42335143C>A	gnomAD
rs914844023	p.Ala224Thr	missense variant	-	NC_000019.10:g.42335146G>A	gnomAD
rs1272627312	p.Ser226Phe	missense variant	-	NC_000019.10:g.42335153C>T	gnomAD
rs565934429	p.Arg228Cys	missense variant	-	NC_000019.10:g.42335158C>T	ExAC,TOPMed,gnomAD
rs1446825911	p.Arg228His	missense variant	-	NC_000019.10:g.42335159G>A	gnomAD
NCI-TCGA novel	p.Ile229Leu	missense variant	-	NC_000019.10:g.42335161A>C	NCI-TCGA
rs1194814670	p.Ile229Thr	missense variant	-	NC_000019.10:g.42335162T>C	TOPMed,gnomAD
rs780187231	p.Ala232Val	missense variant	-	NC_000019.10:g.42335171C>T	ExAC,gnomAD
rs1474530190	p.Gly233Ser	missense variant	-	NC_000019.10:g.42335173G>A	gnomAD
rs1458992981	p.Ala234Asp	missense variant	-	NC_000019.10:g.42335177C>A	gnomAD
rs201282412	p.Ala234Ser	missense variant	-	NC_000019.10:g.42335176G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201282412	p.Ala234Thr	missense variant	-	NC_000019.10:g.42335176G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs756322438	p.Ser237Tyr	missense variant	-	NC_000019.10:g.42335186C>A	ExAC,gnomAD
rs756322438	p.Ser237Phe	missense variant	-	NC_000019.10:g.42335186C>T	ExAC,gnomAD
rs559212665	p.Ser237Thr	missense variant	-	NC_000019.10:g.42335185T>A	1000Genomes,TOPMed,gnomAD
rs1353262734	p.Pro238Ser	missense variant	-	NC_000019.10:g.42335188C>T	TOPMed,gnomAD
rs370196231	p.Val244Leu	missense variant	-	NC_000019.10:g.42335206G>C	ESP,ExAC,TOPMed,gnomAD
rs367866745	p.Gly246Arg	missense variant	-	NC_000019.10:g.42335212G>A	ESP,ExAC,TOPMed,gnomAD
rs1351055123	p.Gln248Glu	missense variant	-	NC_000019.10:g.42335299C>G	TOPMed
rs773064133	p.Leu250Val	missense variant	-	NC_000019.10:g.42335305C>G	ExAC,gnomAD
rs773064133	p.Leu250Phe	missense variant	-	NC_000019.10:g.42335305C>T	ExAC,gnomAD
rs762625035	p.Asn251Ser	missense variant	-	NC_000019.10:g.42335309A>G	ExAC,TOPMed,gnomAD
rs769584545	p.Asn252Asp	missense variant	-	NC_000019.10:g.42335311A>G	TOPMed
rs773873521	p.Gly255Arg	missense variant	-	NC_000019.10:g.42335320G>C	ExAC,TOPMed,gnomAD
rs773873521	p.Gly255Ser	missense variant	-	NC_000019.10:g.42335320G>A	ExAC,TOPMed,gnomAD
rs1399438456	p.Asp256Gly	missense variant	-	NC_000019.10:g.42335324A>G	TOPMed
rs375853163	p.Val258Ile	missense variant	-	NC_000019.10:g.42335329G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asn261His	missense variant	-	NC_000019.10:g.42335338A>C	NCI-TCGA
rs752564927	p.Asn261Ser	missense variant	-	NC_000019.10:g.42335339A>G	ExAC,gnomAD
COSM3534709	p.Ser263Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42335345C>T	NCI-TCGA Cosmic
rs1399733839	p.Ala264Val	missense variant	-	NC_000019.10:g.42335348C>T	gnomAD
rs371198327	p.Ala264Thr	missense variant	-	NC_000019.10:g.42335347G>A	ESP,ExAC,TOPMed,gnomAD
rs1461718601	p.Asn265Asp	missense variant	-	NC_000019.10:g.42335350A>G	gnomAD
rs754073773	p.Thr266Ser	missense variant	-	NC_000019.10:g.42335354C>G	ExAC,TOPMed,gnomAD
rs757420208	p.Glu268Lys	missense variant	-	NC_000019.10:g.42335359G>A	ExAC,gnomAD
rs1218830475	p.Trp270Arg	missense variant	-	NC_000019.10:g.42335365T>C	TOPMed,gnomAD
rs778888305	p.Asp271His	missense variant	-	NC_000019.10:g.42335368G>C	ExAC,gnomAD
rs1314255396	p.Asp271Gly	missense variant	-	NC_000019.10:g.42335369A>G	gnomAD
rs1163973968	p.Leu272Pro	missense variant	-	NC_000019.10:g.42335372T>C	gnomAD
rs758384902	p.Pro274Arg	missense variant	-	NC_000019.10:g.42335378C>G	ExAC,gnomAD
rs780664531	p.Ala275Thr	missense variant	-	NC_000019.10:g.42335380G>A	ExAC,TOPMed,gnomAD
rs1250541861	p.Pro276Ser	missense variant	-	NC_000019.10:g.42335383C>T	gnomAD
rs747511405	p.Pro276Leu	missense variant	-	NC_000019.10:g.42335384C>T	ExAC,gnomAD
rs765439952	p.Arg279His	missense variant	-	NC_000019.10:g.42335938G>A	gnomAD
rs1191150451	p.Ser281Tyr	missense variant	-	NC_000019.10:g.42335944C>A	TOPMed
rs1255292474	p.Val283Ala	missense variant	-	NC_000019.10:g.42335950T>C	TOPMed
rs1478766879	p.Ala284Ser	missense variant	-	NC_000019.10:g.42335952G>T	gnomAD
rs376248434	p.Val285Met	missense variant	-	NC_000019.10:g.42335955G>A	ESP,ExAC,TOPMed,gnomAD
rs1165794845	p.Trp287Ter	stop gained	-	NC_000019.10:g.42335963G>A	gnomAD
rs1308770564	p.Gly289Val	missense variant	-	NC_000019.10:g.42335968G>T	TOPMed
rs753588973	p.Gly289Ser	missense variant	-	NC_000019.10:g.42335967G>A	ExAC,TOPMed,gnomAD
rs1298003744	p.Glu297Lys	missense variant	-	NC_000019.10:g.42335991G>A	gnomAD
rs535520607	p.Asp300Gly	missense variant	-	NC_000019.10:g.42336001A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs369528104	p.Gly301Ser	missense variant	-	NC_000019.10:g.42336003G>A	ESP,ExAC,TOPMed,gnomAD
rs750594133	p.Ser302Leu	missense variant	-	NC_000019.10:g.42336007C>T	ExAC,TOPMed,gnomAD
rs1215358930	p.Thr304Ala	missense variant	-	NC_000019.10:g.42336012A>G	gnomAD
rs779928251	p.Asn305Ser	missense variant	-	NC_000019.10:g.42336016A>G	ExAC,gnomAD
rs755505678	p.Asp306Asn	missense variant	-	NC_000019.10:g.42336018G>A	ExAC,gnomAD
rs201180083	p.Val307Met	missense variant	-	NC_000019.10:g.42336021G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201180083	p.Val307Leu	missense variant	-	NC_000019.10:g.42336021G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1478592114	p.Trp308Ter	stop gained	-	NC_000019.10:g.42336025G>A	TOPMed,gnomAD
rs1010408041	p.Ala309Thr	missense variant	-	NC_000019.10:g.42336027G>A	TOPMed,gnomAD
rs1194634323	p.Pro312Ala	missense variant	-	NC_000019.10:g.42336036C>G	TOPMed
rs745445494	p.Arg315Trp	missense variant	-	NC_000019.10:g.42336045A>T	ExAC,gnomAD
rs745445494	p.Arg315Gly	missense variant	-	NC_000019.10:g.42336045A>G	ExAC,gnomAD
rs774933621	p.Gly316Asp	missense variant	-	NC_000019.10:g.42336049G>A	ExAC,TOPMed,gnomAD
rs771627803	p.Gly316Ser	missense variant	-	NC_000019.10:g.42336048G>A	ExAC,TOPMed,gnomAD
rs760635447	p.His317Tyr	missense variant	-	NC_000019.10:g.42336051C>T	ExAC,gnomAD
rs1285450981	p.Trp318Cys	missense variant	-	NC_000019.10:g.42336056G>C	gnomAD
rs776527811	p.Ala322Val	missense variant	-	NC_000019.10:g.42336067C>T	ExAC,gnomAD
rs761653309	p.Pro323Gln	missense variant	-	NC_000019.10:g.42336070C>A	ExAC,gnomAD
rs1251375571	p.Pro324Leu	missense variant	-	NC_000019.10:g.42336073C>T	TOPMed
rs979965977	p.Ala325Val	missense variant	-	NC_000019.10:g.42336076C>T	TOPMed,gnomAD
rs764933318	p.Ser327Gly	missense variant	-	NC_000019.10:g.42336081A>G	ExAC,gnomAD
rs927098448	p.Ser328Cys	missense variant	-	NC_000019.10:g.42336085C>G	TOPMed
rs750660042	p.Ser329Leu	missense variant	-	NC_000019.10:g.42336088C>T	ExAC,TOPMed,gnomAD
rs750660042	p.Ser329Trp	missense variant	-	NC_000019.10:g.42336088C>G	ExAC,TOPMed,gnomAD
rs755090133	p.Ala335Val	missense variant	-	NC_000019.10:g.42336106C>T	ExAC,TOPMed,gnomAD
rs1437893178	p.Ala338Thr	missense variant	-	NC_000019.10:g.42336114G>A	gnomAD
rs1178331960	p.Ala338Val	missense variant	-	NC_000019.10:g.42336115C>T	gnomAD
rs200235162	p.Ala340Ser	missense variant	-	NC_000019.10:g.42336120G>T	1000Genomes,ExAC,gnomAD
rs200235162	p.Ala340Thr	missense variant	-	NC_000019.10:g.42336120G>A	1000Genomes,ExAC,gnomAD
rs372990477	p.Val342Met	missense variant	-	NC_000019.10:g.42336126G>A	ESP,ExAC,TOPMed,gnomAD
rs866157624	p.Val342Ala	missense variant	-	NC_000019.10:g.42336127T>C	TOPMed
rs757946834	p.Asp343Gly	missense variant	-	NC_000019.10:g.42336130A>G	ExAC,gnomAD
rs199720072	p.Asp344Gly	missense variant	-	NC_000019.10:g.42336133A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1342837234	p.Leu347Arg	missense variant	-	NC_000019.10:g.42336142T>G	TOPMed,gnomAD
rs746570237	p.Tyr348Phe	missense variant	-	NC_000019.10:g.42336145A>T	ExAC,gnomAD
rs747964609	p.Arg353His	missense variant	-	NC_000019.10:g.42336160G>A	ExAC,TOPMed,gnomAD
rs554274233	p.Arg353Cys	missense variant	-	NC_000019.10:g.42336159C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs201929902	p.Pro355Leu	missense variant	-	NC_000019.10:g.42336166C>T	1000Genomes,ExAC,gnomAD
rs1270793237	p.Asp357Asn	missense variant	-	NC_000019.10:g.42336171G>A	TOPMed,gnomAD
RCV000487301	p.Ser360Phe	missense variant	-	NC_000019.10:g.42336181C>T	ClinVar
rs1064796651	p.Ser360Phe	missense variant	-	NC_000019.10:g.42336181C>T	gnomAD
rs747480874	p.Gly362Val	missense variant	-	NC_000019.10:g.42336187G>T	ExAC,TOPMed,gnomAD
rs747480874	p.Gly362Asp	missense variant	-	NC_000019.10:g.42336187G>A	ExAC,TOPMed,gnomAD
rs767639907	p.Leu363Val	missense variant	-	NC_000019.10:g.42336189C>G	ExAC,gnomAD
rs1377476090	p.Arg365Cys	missense variant	-	NC_000019.10:g.42336195C>T	gnomAD
rs753269923	p.Arg365His	missense variant	-	NC_000019.10:g.42336196G>A	ExAC,gnomAD
rs756531536	p.Arg367Cys	missense variant	-	NC_000019.10:g.42336201C>T	ExAC,gnomAD
rs1422086364	p.Arg367His	missense variant	-	NC_000019.10:g.42336202G>A	gnomAD
rs754193202	p.Ser370Gly	missense variant	-	NC_000019.10:g.42336210A>G	ExAC,gnomAD
rs757618177	p.Ser370Asn	missense variant	-	NC_000019.10:g.42336211G>A	ExAC,TOPMed,gnomAD
rs1322458603	p.Thr371Ile	missense variant	-	NC_000019.10:g.42336214C>T	gnomAD
rs746659886	p.Ser372Arg	missense variant	-	NC_000019.10:g.42336218C>A	ExAC,TOPMed,gnomAD
rs780619794	p.Gly373Arg	missense variant	-	NC_000019.10:g.42336219G>A	ExAC,TOPMed,gnomAD
rs769661801	p.Val379Leu	missense variant	-	NC_000019.10:g.42336237G>C	ExAC,gnomAD
rs769661801	p.Val379Met	missense variant	-	NC_000019.10:g.42336237G>A	ExAC,gnomAD
rs773182043	p.Ile380Phe	missense variant	-	NC_000019.10:g.42336240A>T	ExAC,gnomAD
rs749099841	p.Pro381Leu	missense variant	-	NC_000019.10:g.42336244C>T	ExAC,TOPMed,gnomAD
rs774720321	p.Gly383Val	missense variant	-	NC_000019.10:g.42336250G>T	ExAC,TOPMed,gnomAD
rs772302830	p.Gly384Arg	missense variant	-	NC_000019.10:g.42336252G>A	ExAC,TOPMed,gnomAD
rs760775705	p.Arg385Trp	missense variant	-	NC_000019.10:g.42336255C>T	ExAC,TOPMed,gnomAD
rs764557517	p.Arg385Gln	missense variant	-	NC_000019.10:g.42336256G>A	ExAC,TOPMed,gnomAD
rs754356057	p.Pro386Thr	missense variant	-	NC_000019.10:g.42336258C>A	ExAC
rs1425224452	p.Pro386Leu	missense variant	-	NC_000019.10:g.42336259C>T	gnomAD
rs1162326420	p.Pro387Leu	missense variant	-	NC_000019.10:g.42336262C>T	gnomAD
rs200502457	p.Ala388Pro	missense variant	-	NC_000019.10:g.42336264G>C	ExAC,TOPMed,gnomAD
rs200502457	p.Ala388Thr	missense variant	-	NC_000019.10:g.42336264G>A	ExAC,TOPMed,gnomAD
rs1187723042	p.Ala389Val	missense variant	-	NC_000019.10:g.42336268C>T	TOPMed
rs954272475	p.Thr390Ser	missense variant	-	NC_000019.10:g.42336271C>G	TOPMed
COSM3534715	p.Ser393Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42336280C>T	NCI-TCGA Cosmic
rs751222342	p.Met394Val	missense variant	-	NC_000019.10:g.42336282A>G	ExAC,gnomAD
rs754572887	p.Val395Met	missense variant	-	NC_000019.10:g.42336285G>A	ExAC,gnomAD
rs780709754	p.Ala398Val	missense variant	-	NC_000019.10:g.42336295C>T	ExAC,gnomAD
rs1329643001	p.Pro399Ser	missense variant	-	NC_000019.10:g.42336297C>T	TOPMed
NCI-TCGA novel	p.Ser400ProPheSerTerUnkUnk	frameshift	-	NC_000019.10:g.42336295C>-	NCI-TCGA
rs1342492113	p.Arg401Cys	missense variant	-	NC_000019.10:g.42336303C>T	gnomAD
rs1242665700	p.Arg401His	missense variant	-	NC_000019.10:g.42336304G>A	TOPMed,gnomAD
rs777642371	p.Ala402Ser	missense variant	-	NC_000019.10:g.42336306G>T	ExAC,gnomAD
rs777642371	p.Ala402Thr	missense variant	-	NC_000019.10:g.42336306G>A	ExAC,gnomAD
rs1357365314	p.Val405Ala	missense variant	-	NC_000019.10:g.42336316T>C	TOPMed,gnomAD
rs770863873	p.Gly408Glu	missense variant	-	NC_000019.10:g.42336325G>A	ExAC,gnomAD
rs1488161372	p.His409Gln	missense variant	-	NC_000019.10:g.42336329C>A	gnomAD
rs961326384	p.His409Tyr	missense variant	-	NC_000019.10:g.42336327C>T	gnomAD
rs755656068	p.Arg410Trp	missense variant	-	NC_000019.10:g.42336330C>T	gnomAD
rs370518508	p.Arg410Gln	missense variant	-	NC_000019.10:g.42336331G>A	ESP,ExAC,TOPMed,gnomAD
rs746125032	p.Pro411Leu	missense variant	-	NC_000019.10:g.42336334C>T	ExAC,gnomAD
COSM3534717	p.Pro411Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42336333C>T	NCI-TCGA Cosmic
rs775756534	p.Arg415Trp	missense variant	-	NC_000019.10:g.42336345C>T	ExAC,TOPMed,gnomAD
rs760723521	p.Arg415Gln	missense variant	-	NC_000019.10:g.42336346G>A	ExAC,gnomAD
rs770322892	p.Ser417Pro	missense variant	-	NC_000019.10:g.42336811T>C	ExAC,gnomAD
rs1306719236	p.Val418Ala	missense variant	-	NC_000019.10:g.42336815T>C	TOPMed
rs1257064827	p.Arg419Gln	missense variant	-	NC_000019.10:g.42336818G>A	gnomAD
rs1222471099	p.Arg419Ter	stop gained	-	NC_000019.10:g.42336817C>T	TOPMed
rs763379149	p.Val420Met	missense variant	-	NC_000019.10:g.42336820G>A	ExAC,gnomAD
rs775022715	p.Asn421Ile	missense variant	-	NC_000019.10:g.42336824A>T	ExAC,gnomAD
rs1180065982	p.Phe426Ser	missense variant	-	NC_000019.10:g.42336839T>C	gnomAD
rs200630623	p.Val428Met	missense variant	-	NC_000019.10:g.42336844G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs200630623	p.Val428Leu	missense variant	-	NC_000019.10:g.42336844G>T	1000Genomes,ExAC,TOPMed,gnomAD
COSM4904760	p.Asp429Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42336849T>A	NCI-TCGA Cosmic
rs375504309	p.Arg430Gln	missense variant	-	NC_000019.10:g.42336851G>A	ESP,ExAC,TOPMed,gnomAD
rs375504309	p.Arg430Leu	missense variant	-	NC_000019.10:g.42336851G>T	ESP,ExAC,TOPMed,gnomAD
rs765321277	p.Arg430Trp	missense variant	-	NC_000019.10:g.42336850C>T	ExAC,TOPMed,gnomAD
rs544335371	p.Val432Leu	missense variant	-	NC_000019.10:g.42336856G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs747214327	p.Thr434Met	missense variant	-	NC_000019.10:g.42336863C>T	ExAC,TOPMed,gnomAD
rs200021307	p.Thr435Met	missense variant	-	NC_000019.10:g.42336866C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1302353391	p.Gly438Trp	missense variant	-	NC_000019.10:g.42336874G>T	gnomAD
RCV000482837	p.Arg439Trp	missense variant	-	NC_000019.10:g.42336877C>T	ClinVar
rs769862975	p.Arg439Trp	missense variant	-	NC_000019.10:g.42336877C>T	ExAC,TOPMed,gnomAD
rs922693299	p.Arg439Gln	missense variant	-	NC_000019.10:g.42336878G>A	gnomAD
rs544659951	p.Gln443Pro	missense variant	-	NC_000019.10:g.42336890A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs773716450	p.Gln443Glu	missense variant	-	NC_000019.10:g.42336889C>G	ExAC,gnomAD
rs773716450	p.Gln443Ter	stop gained	-	NC_000019.10:g.42336889C>T	ExAC,gnomAD
rs771222674	p.Gly444Ser	missense variant	-	NC_000019.10:g.42336892G>A	ExAC,TOPMed
rs774738057	p.Pro445Ala	missense variant	-	NC_000019.10:g.42336895C>G	ExAC,TOPMed
rs1050935063	p.Arg446Gly	missense variant	-	NC_000019.10:g.42336898A>G	gnomAD
rs759790038	p.Arg446Thr	missense variant	-	NC_000019.10:g.42336899G>C	ExAC,gnomAD
rs1228621761	p.Arg448Gln	missense variant	-	NC_000019.10:g.42336905G>A	TOPMed
RCV000033074	p.Arg448Ter	nonsense	Carpenter syndrome 2 (CRPT2)	NC_000019.10:g.42336904C>T	ClinVar
rs397514621	p.Arg448Ter	stop gained	-	NC_000019.10:g.42336904C>T	gnomAD
rs865933373	p.Ala449Val	missense variant	-	NC_000019.10:g.42336908C>T	TOPMed
rs865933373	p.Ala449Asp	missense variant	-	NC_000019.10:g.42336908C>A	TOPMed
rs763858957	p.Phe450Leu	missense variant	-	NC_000019.10:g.42336910T>C	ExAC,gnomAD
rs1388741446	p.His451Arg	missense variant	-	NC_000019.10:g.42336914A>G	gnomAD
NCI-TCGA novel	p.Thr452Ile	missense variant	-	NC_000019.10:g.42336917C>T	NCI-TCGA
rs761480799	p.Ala453Gly	missense variant	-	NC_000019.10:g.42336920C>G	ExAC,gnomAD
NCI-TCGA novel	p.Val455Ala	missense variant	-	NC_000019.10:g.42336926T>C	NCI-TCGA
rs1423087578	p.Gly457Asp	missense variant	-	NC_000019.10:g.42336932G>A	gnomAD
rs764773192	p.Met460Leu	missense variant	-	NC_000019.10:g.42336940A>T	ExAC,TOPMed,gnomAD
rs764773192	p.Met460Val	missense variant	-	NC_000019.10:g.42336940A>G	ExAC,TOPMed,gnomAD
rs1348379113	p.Val462Phe	missense variant	-	NC_000019.10:g.42336946G>T	gnomAD
rs963924670	p.Tyr463Cys	missense variant	-	NC_000019.10:g.42336950A>G	TOPMed
rs769451119	p.Gly465Ser	missense variant	-	NC_000019.10:g.42337086G>A	ExAC,gnomAD
rs1377791176	p.Asn466Ser	missense variant	-	NC_000019.10:g.42337090A>G	gnomAD
rs1295527134	p.Val467Met	missense variant	-	NC_000019.10:g.42337092G>A	TOPMed
rs762337124	p.Thr469Ala	missense variant	-	NC_000019.10:g.42337098A>G	ExAC,gnomAD
COSM997343	p.Gln472Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42337108A>G	NCI-TCGA Cosmic
rs751435946	p.Glu474Gln	missense variant	-	NC_000019.10:g.42337113G>C	ExAC,gnomAD
rs1372579036	p.Tyr477Asn	missense variant	-	NC_000019.10:g.42337122T>A	TOPMed
rs1207858447	p.Glu478Lys	missense variant	-	NC_000019.10:g.42337125G>A	gnomAD
NCI-TCGA novel	p.Asp479His	missense variant	-	NC_000019.10:g.42337128G>C	NCI-TCGA
rs1235865523	p.Gly480Ser	missense variant	-	NC_000019.10:g.42337131G>A	gnomAD
rs370287880	p.Ile481Asn	missense variant	-	NC_000019.10:g.42337135T>A	ESP,ExAC,TOPMed,gnomAD
rs370287880	p.Ile481Thr	missense variant	-	NC_000019.10:g.42337135T>C	ESP,ExAC,TOPMed,gnomAD
rs141773838	p.Phe482Leu	missense variant	-	NC_000019.10:g.42337139C>A	ESP,TOPMed
rs756293002	p.Phe482Ser	missense variant	-	NC_000019.10:g.42337138T>C	ExAC,TOPMed,gnomAD
rs1438010083	p.Tyr484His	missense variant	-	NC_000019.10:g.42337143T>C	TOPMed,gnomAD
COSM3422863	p.His485Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42337146C>T	NCI-TCGA Cosmic
rs754002454	p.Gln490Arg	missense variant	-	NC_000019.10:g.42337162A>G	ExAC,gnomAD
rs779538653	p.Glu496Lys	missense variant	-	NC_000019.10:g.42337179G>A	ExAC,TOPMed,gnomAD
rs993849381	p.Pro499Leu	missense variant	-	NC_000019.10:g.42337189C>T	TOPMed,gnomAD
COSM1394106	p.Pro499ArgPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000019.10:g.42337186C>-	NCI-TCGA Cosmic
rs1344184170	p.Thr502Ala	missense variant	-	NC_000019.10:g.42337197A>G	TOPMed
rs780513971	p.Thr502Ser	missense variant	-	NC_000019.10:g.42337198C>G	ExAC,TOPMed,gnomAD
rs747833755	p.Glu504Lys	missense variant	-	NC_000019.10:g.42337203G>A	ExAC,gnomAD
rs769609153	p.Gly505Ser	missense variant	-	NC_000019.10:g.42337206G>A	ExAC,TOPMed,gnomAD
rs1316132334	p.Arg506Ter	stop gained	-	NC_000019.10:g.42343479C>T	gnomAD
rs555480088	p.Ala508Val	missense variant	-	NC_000019.10:g.42343486C>T	1000Genomes,ExAC,TOPMed,gnomAD
COSM4468146	p.Pro510Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42343492C>T	NCI-TCGA Cosmic
rs1246418859	p.Arg513Gln	missense variant	-	NC_000019.10:g.42343501G>A	TOPMed,gnomAD
rs1197238420	p.Arg513Trp	missense variant	-	NC_000019.10:g.42343500C>T	gnomAD
COSM3534719	p.Tyr514Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42343504A>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser515Ter	stop gained	-	NC_000019.10:g.42343507C>G	NCI-TCGA
rs1299943165	p.Val517Leu	missense variant	-	NC_000019.10:g.42343512G>T	gnomAD
NCI-TCGA novel	p.Ala519Thr	missense variant	-	NC_000019.10:g.42343518G>A	NCI-TCGA
rs972539405	p.Ala519Val	missense variant	-	NC_000019.10:g.42343519C>T	gnomAD
rs1420921850	p.Ala519Ser	missense variant	-	NC_000019.10:g.42343518G>T	gnomAD
COSM3534722	p.Leu521Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42343524C>T	NCI-TCGA Cosmic
rs760533124	p.Val525Ile	missense variant	-	NC_000019.10:g.42343536G>A	ExAC,TOPMed,gnomAD
rs1276189717	p.Leu527Phe	missense variant	-	NC_000019.10:g.42343544G>T	gnomAD
rs761889161	p.Ala529Val	missense variant	-	NC_000019.10:g.42343549C>T	ExAC,gnomAD
COSM1394112	p.Tyr532ThrPheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000019.10:g.42343551G>-	NCI-TCGA Cosmic
rs750508368	p.Gly534Ser	missense variant	-	NC_000019.10:g.42343563G>A	ExAC,TOPMed,gnomAD
COSM5114809	p.Gly534Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42343564G>A	NCI-TCGA Cosmic
rs758529363	p.Arg535Trp	missense variant	-	NC_000019.10:g.42343566C>T	ExAC,TOPMed,gnomAD
rs767049386	p.Arg535Gln	missense variant	-	NC_000019.10:g.42343567G>A	ExAC,TOPMed,gnomAD
rs767049386	p.Arg535Leu	missense variant	-	NC_000019.10:g.42343567G>T	ExAC,TOPMed,gnomAD
rs752106496	p.Pro536Thr	missense variant	-	NC_000019.10:g.42343569C>A	ExAC,gnomAD
rs755408868	p.Arg537Cys	missense variant	-	NC_000019.10:g.42343572C>T	ExAC,TOPMed,gnomAD
rs926015247	p.Arg537His	missense variant	-	NC_000019.10:g.42343573G>A	TOPMed,gnomAD
rs1261629394	p.Gly538Arg	missense variant	-	NC_000019.10:g.42343575G>A	gnomAD
NCI-TCGA novel	p.Leu540Phe	missense variant	-	NC_000019.10:g.42343583G>C	NCI-TCGA
rs138359626	p.Leu540Met	missense variant	-	NC_000019.10:g.42343581T>A	ESP,TOPMed,gnomAD
rs759983093	p.Ala542Val	missense variant	-	NC_000019.10:g.42343588C>T	ExAC,TOPMed,gnomAD
rs749001871	p.Val545Met	missense variant	-	NC_000019.10:g.42343596G>A	ExAC,gnomAD
rs1211505410	p.Pro546His	missense variant	-	NC_000019.10:g.42343600C>A	gnomAD
rs756900845	p.Pro546Ser	missense variant	-	NC_000019.10:g.42343599C>T	ExAC,TOPMed,gnomAD
rs745444778	p.Pro547His	missense variant	-	NC_000019.10:g.42343603C>A	ExAC,gnomAD
rs1359856325	p.Ala552Glu	missense variant	-	NC_000019.10:g.42343618C>A	gnomAD
rs1296394702	p.Pro553Ala	missense variant	-	NC_000019.10:g.42343620C>G	TOPMed,gnomAD
rs1328258068	p.Ala554Ser	missense variant	-	NC_000019.10:g.42343623G>T	gnomAD
rs768515891	p.Pro555Leu	missense variant	-	NC_000019.10:g.42343627C>T	ExAC,gnomAD
rs768515891	p.Pro555Arg	missense variant	-	NC_000019.10:g.42343627C>G	ExAC,gnomAD
rs562426921	p.Pro555Ala	missense variant	-	NC_000019.10:g.42343626C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs562426921	p.Pro555Thr	missense variant	-	NC_000019.10:g.42343626C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1360682261	p.Asp556Asn	missense variant	-	NC_000019.10:g.42343629G>A	gnomAD
rs747950293	p.His558Gln	missense variant	-	NC_000019.10:g.42343959C>G	ExAC,gnomAD
rs769625761	p.Tyr561His	missense variant	-	NC_000019.10:g.42343966T>C	ExAC,gnomAD
rs773571582	p.Cys562Arg	missense variant	-	NC_000019.10:g.42343969T>C	ExAC,gnomAD
rs763220781	p.Cys562Phe	missense variant	-	NC_000019.10:g.42343970G>T	ExAC,gnomAD
COSM3534725	p.Ser563Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42343973C>T	NCI-TCGA Cosmic
rs1309551308	p.Met564Arg	missense variant	-	NC_000019.10:g.42343976T>G	gnomAD
rs1012606989	p.Thr566Ala	missense variant	-	NC_000019.10:g.42343981A>G	TOPMed
NCI-TCGA novel	p.Asp567Asn	missense variant	-	NC_000019.10:g.42343984G>A	NCI-TCGA
rs369202655	p.His568Tyr	missense variant	-	NC_000019.10:g.42343987C>T	ESP,TOPMed,gnomAD
rs767970851	p.Val570Ile	missense variant	-	NC_000019.10:g.42343993G>A	ExAC,TOPMed,gnomAD
rs760954782	p.Arg573Gln	missense variant	-	NC_000019.10:g.42344003G>A	ExAC,gnomAD
rs369696855	p.Arg573Trp	missense variant	-	NC_000019.10:g.42344002C>T	ESP,ExAC,TOPMed,gnomAD
rs373575110	p.Pro575Leu	missense variant	-	NC_000019.10:g.42344009C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu576Val	missense variant	-	NC_000019.10:g.42344012A>T	NCI-TCGA
COSM1712406	p.Cys580Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42344023T>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala583Pro	missense variant	-	NC_000019.10:g.42344032G>C	NCI-TCGA
rs1462626963	p.Ala586Val	missense variant	-	NC_000019.10:g.42344042C>T	gnomAD
rs1462626963	p.Ala586Gly	missense variant	-	NC_000019.10:g.42344042C>G	gnomAD
rs779646470	p.Pro588His	missense variant	-	NC_000019.10:g.42344048C>A	ExAC,gnomAD
rs779646470	p.Pro588Leu	missense variant	-	NC_000019.10:g.42344048C>T	ExAC,gnomAD
rs758003145	p.Pro588Thr	missense variant	-	NC_000019.10:g.42344047C>A	ExAC,gnomAD
rs779646470	p.Pro588Arg	missense variant	-	NC_000019.10:g.42344048C>G	ExAC,gnomAD
rs377009181	p.Pro589His	missense variant	-	NC_000019.10:g.42344051C>A	ESP,ExAC,TOPMed,gnomAD
rs781058253	p.Pro589Ala	missense variant	-	NC_000019.10:g.42344050C>G	ExAC,gnomAD
rs1216603294	p.Pro593Leu	missense variant	-	NC_000019.10:g.42344063C>T	TOPMed
rs777672123	p.Gly595Glu	missense variant	-	NC_000019.10:g.42344069G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ala596Asp	missense variant	-	NC_000019.10:g.42344072C>A	NCI-TCGA
NCI-TCGA novel	p.Ala596Val	missense variant	-	NC_000019.10:g.42344072C>T	NCI-TCGA
rs1307725029	p.Ala596Thr	missense variant	-	NC_000019.10:g.42344071G>A	TOPMed,gnomAD
COSM3534734	p.Pro598Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42344445C>T	NCI-TCGA Cosmic
COSM3534731	p.Pro598Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42344444C>T	NCI-TCGA Cosmic
rs1214967194	p.Ala599Val	missense variant	-	NC_000019.10:g.42344448C>T	gnomAD
rs1188554157	p.Ala600Val	missense variant	-	NC_000019.10:g.42344451C>T	gnomAD
rs779285900	p.Ala600Thr	missense variant	-	NC_000019.10:g.42344450G>A	ExAC,TOPMed,gnomAD
rs1383636753	p.Ser601Asn	missense variant	-	NC_000019.10:g.42344454G>A	gnomAD
rs1212299434	p.Gly604Ser	missense variant	-	NC_000019.10:g.42344462G>A	gnomAD
rs772070723	p.Leu605Val	missense variant	-	NC_000019.10:g.42344465C>G	ExAC,gnomAD
rs1418474530	p.Gly606Val	missense variant	-	NC_000019.10:g.42344469G>T	gnomAD
rs747026334	p.Arg607Cys	missense variant	-	NC_000019.10:g.42344471C>T	ExAC,TOPMed,gnomAD
rs769196067	p.Arg607His	missense variant	-	NC_000019.10:g.42344472G>A	ExAC,TOPMed,gnomAD
rs1381630142	p.Leu608Ile	missense variant	-	NC_000019.10:g.42344474C>A	gnomAD
rs1260348011	p.Gly610Asp	missense variant	-	NC_000019.10:g.42344481G>A	TOPMed
rs372468505	p.Asp611Glu	missense variant	-	NC_000019.10:g.42344485C>G	ESP,ExAC,TOPMed,gnomAD
rs1223186859	p.Cys612Phe	missense variant	-	NC_000019.10:g.42344487G>T	gnomAD
rs1465911816	p.Ala617Thr	missense variant	-	NC_000019.10:g.42344501G>A	TOPMed
rs1218076278	p.Ala617Val	missense variant	-	NC_000019.10:g.42344502C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Ser619Ile	missense variant	-	NC_000019.10:g.42344508G>T	NCI-TCGA
rs1241283926	p.Ser620Ile	missense variant	-	NC_000019.10:g.42344511G>T	gnomAD
rs773886995	p.Arg626Gln	missense variant	-	NC_000019.10:g.42344529G>A	ExAC,TOPMed,gnomAD
rs369796236	p.Arg626Trp	missense variant	-	NC_000019.10:g.42344528C>T	ExAC,gnomAD
rs759178290	p.Gly627Glu	missense variant	-	NC_000019.10:g.42344532G>A	ExAC,gnomAD
NCI-TCGA novel	p.Pro628His	missense variant	-	NC_000019.10:g.42344535C>A	NCI-TCGA
rs767048124	p.Gly629Asp	missense variant	-	NC_000019.10:g.42344538G>A	ExAC,TOPMed,gnomAD
rs755672509	p.Thr630Ser	missense variant	-	NC_000019.10:g.42344541C>G	ExAC,gnomAD
NCI-TCGA novel	p.Trp633Arg	missense variant	-	NC_000019.10:g.42344549T>A	NCI-TCGA
rs1374446512	p.Cys634Arg	missense variant	-	NC_000019.10:g.42344552T>C	gnomAD
rs746105455	p.Val635Met	missense variant	-	NC_000019.10:g.42344555G>A	ExAC,gnomAD
rs369191682	p.Asn637Ser	missense variant	-	NC_000019.10:g.42344562A>G	ESP,ExAC,TOPMed,gnomAD
rs1261405591	p.Glu638Lys	missense variant	-	NC_000019.10:g.42344564G>A	gnomAD
rs1204592871	p.Ser639Asn	missense variant	-	NC_000019.10:g.42344568G>A	gnomAD
rs1313345333	p.Cys640Tyr	missense variant	-	NC_000019.10:g.42344571G>A	gnomAD
RCV000650612	p.Leu641Phe	missense variant	Carpenter syndrome 2 (CRPT2)	NC_000019.10:g.42344573C>T	ClinVar
rs1555781030	p.Leu641Phe	missense variant	-	NC_000019.10:g.42344573C>T	-
rs748593827	p.Pro642Ser	missense variant	-	NC_000019.10:g.42344576C>T	ExAC,gnomAD
rs770165316	p.Pro642Arg	missense variant	-	NC_000019.10:g.42344577C>G	ExAC,gnomAD
rs1471473373	p.Pro644His	missense variant	-	NC_000019.10:g.42344583C>A	gnomAD
rs1244275238	p.Glu645Val	missense variant	-	NC_000019.10:g.42344670A>T	gnomAD
rs1291408939	p.Glu645Asp	missense variant	-	NC_000019.10:g.42344671G>C	gnomAD
rs201134458	p.Gln646Lys	missense variant	-	NC_000019.10:g.42344672C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1225354048	p.Gln646Arg	missense variant	-	NC_000019.10:g.42344673A>G	gnomAD
rs201134458	p.Gln646Glu	missense variant	-	NC_000019.10:g.42344672C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs765273470	p.Arg648His	missense variant	-	NC_000019.10:g.42344679G>A	ExAC,TOPMed,gnomAD
rs761382753	p.Arg648Cys	missense variant	-	NC_000019.10:g.42344678C>T	ExAC,TOPMed,gnomAD
rs908158416	p.Cys649Ter	stop gained	-	NC_000019.10:g.42344683C>A	TOPMed,gnomAD
rs750318898	p.Arg650Ter	stop gained	-	NC_000019.10:g.42344684C>T	ExAC,TOPMed,gnomAD
rs892346905	p.Arg650Gln	missense variant	-	NC_000019.10:g.42344685G>A	gnomAD
rs1374463978	p.Gly651Arg	missense variant	-	NC_000019.10:g.42344687G>A	gnomAD
rs762810587	p.Gly651Val	missense variant	-	NC_000019.10:g.42344688G>T	ExAC,gnomAD
rs762810587	p.Gly651Glu	missense variant	-	NC_000019.10:g.42344688G>A	ExAC,gnomAD
rs940923490	p.Gln653Ter	stop gained	-	NC_000019.10:g.42344693C>T	TOPMed
rs766029134	p.Ile654Val	missense variant	-	NC_000019.10:g.42344696A>G	ExAC,gnomAD
rs751800916	p.Ser655Ter	stop gained	-	NC_000019.10:g.42344700C>G	ExAC,gnomAD
rs1382940554	p.Gly659Val	missense variant	-	NC_000019.10:g.42344712G>T	TOPMed,gnomAD
rs1381740413	p.Trp660Arg	missense variant	-	NC_000019.10:g.42344714T>C	gnomAD
rs1029699368	p.Pro663Thr	missense variant	-	NC_000019.10:g.42344723C>A	TOPMed,gnomAD
rs1029699368	p.Pro663Ser	missense variant	-	NC_000019.10:g.42344723C>T	TOPMed,gnomAD
rs1412725691	p.Ala664Val	missense variant	-	NC_000019.10:g.42344727C>T	gnomAD
rs1239024884	p.Pro665Ser	missense variant	-	NC_000019.10:g.42344729C>T	TOPMed
rs749703192	p.Val668Phe	missense variant	-	NC_000019.10:g.42344738G>T	ExAC,TOPMed,gnomAD
rs749703192	p.Val668Ile	missense variant	-	NC_000019.10:g.42344738G>A	ExAC,TOPMed,gnomAD
rs370121559	p.Thr669Met	missense variant	-	NC_000019.10:g.42344742C>T	ESP,ExAC,TOPMed,gnomAD
rs139182618	p.Glu672Gln	missense variant	-	NC_000019.10:g.42344750G>C	ESP,ExAC,TOPMed,gnomAD
rs139182618	p.Glu672Lys	missense variant	-	NC_000019.10:g.42344750G>A	ESP,ExAC,TOPMed,gnomAD
rs374100226	p.Val675Ile	missense variant	-	NC_000019.10:g.42344759G>A	ESP,ExAC,TOPMed,gnomAD
rs535539556	p.Gln677Arg	missense variant	-	NC_000019.10:g.42344766A>G	ExAC,TOPMed,gnomAD
rs535539556	p.Gln677Leu	missense variant	-	NC_000019.10:g.42344766A>T	ExAC,TOPMed,gnomAD
rs1446204125	p.Phe679Tyr	missense variant	-	NC_000019.10:g.42344772T>A	gnomAD
rs199665461	p.Leu680Gln	missense variant	-	NC_000019.10:g.42344775T>A	ExAC,gnomAD
rs762749073	p.Leu685Val	missense variant	-	NC_000019.10:g.42344789T>G	ExAC,TOPMed,gnomAD
rs766228120	p.Phe688Leu	missense variant	-	NC_000019.10:g.42344798T>C	ExAC,gnomAD
rs1159232126	p.Gln689His	missense variant	-	NC_000019.10:g.42344803G>T	gnomAD
rs774171456	p.Pro691Leu	missense variant	-	NC_000019.10:g.42344808C>T	ExAC,TOPMed,gnomAD
rs142485616	p.Asn693Ser	missense variant	-	NC_000019.10:g.42344814A>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr694Ala	missense variant	-	NC_000019.10:g.42344816A>G	NCI-TCGA
rs201674841	p.Thr694Ile	missense variant	-	NC_000019.10:g.42344817C>T	1000Genomes,ExAC,gnomAD
rs201674841	p.Thr694Asn	missense variant	-	NC_000019.10:g.42344817C>A	1000Genomes,ExAC,gnomAD
rs756232567	p.Asp698Gly	missense variant	-	NC_000019.10:g.42344829A>G	ExAC,gnomAD
rs1476990555	p.Val700Ile	missense variant	-	NC_000019.10:g.42348272G>A	TOPMed,gnomAD
rs1222401467	p.Ile702Val	missense variant	-	NC_000019.10:g.42348278A>G	gnomAD
rs1313603221	p.Arg704His	missense variant	-	NC_000019.10:g.42348285G>A	TOPMed,gnomAD
rs1283291659	p.Arg704Cys	missense variant	-	NC_000019.10:g.42348284C>T	gnomAD
rs772522369	p.Thr706Arg	missense variant	-	NC_000019.10:g.42348291C>G	TOPMed,gnomAD
rs772522369	p.Thr706Met	missense variant	-	NC_000019.10:g.42348291C>T	TOPMed,gnomAD
rs1197535601	p.Thr709Ser	missense variant	-	NC_000019.10:g.42348299A>T	gnomAD
rs1266713719	p.Leu710Pro	missense variant	-	NC_000019.10:g.42348303T>C	gnomAD
rs1430011191	p.Ser713Asn	missense variant	-	NC_000019.10:g.42348312G>A	gnomAD
rs377090768	p.Ser713Arg	missense variant	-	NC_000019.10:g.42348313C>A	ESP,ExAC,TOPMed,gnomAD
rs368461816	p.Ala714Ser	missense variant	-	NC_000019.10:g.42348314G>T	ESP,ExAC,TOPMed,gnomAD
rs368461816	p.Ala714Thr	missense variant	-	NC_000019.10:g.42348314G>A	ESP,ExAC,TOPMed,gnomAD
rs1156709984	p.Thr716Ala	missense variant	-	NC_000019.10:g.42348320A>G	gnomAD
rs764350769	p.Thr716Ile	missense variant	-	NC_000019.10:g.42348321C>T	ExAC,gnomAD
rs935356839	p.Asp717Asn	missense variant	-	NC_000019.10:g.42348323G>A	gnomAD
rs1404815017	p.Val721Phe	missense variant	-	NC_000019.10:g.42348335G>T	gnomAD
rs996289561	p.Arg723Cys	missense variant	-	NC_000019.10:g.42348341C>T	TOPMed,gnomAD
rs1359429535	p.Arg723His	missense variant	-	NC_000019.10:g.42348342G>A	TOPMed
rs1212483048	p.Gly724Arg	missense variant	-	NC_000019.10:g.42348344G>C	gnomAD
rs1050470092	p.Phe725Ile	missense variant	-	NC_000019.10:g.42348347T>A	TOPMed,gnomAD
rs1382077675	p.Pro728Leu	missense variant	-	NC_000019.10:g.42348357C>T	TOPMed
rs907241217	p.Met729Val	missense variant	-	NC_000019.10:g.42348359A>G	TOPMed,gnomAD
rs1289243165	p.Gly735Asp	missense variant	-	NC_000019.10:g.42348378G>A	gnomAD
rs1001482515	p.Gly736Arg	missense variant	-	NC_000019.10:g.42348380G>A	TOPMed
rs1223124013	p.Pro737Gln	missense variant	-	NC_000019.10:g.42348384C>A	TOPMed,gnomAD
rs1223124013	p.Pro737Arg	missense variant	-	NC_000019.10:g.42348384C>G	TOPMed,gnomAD
rs1489489831	p.Asp741Tyr	missense variant	-	NC_000019.10:g.42348395G>T	gnomAD
rs1261334999	p.Val742Met	missense variant	-	NC_000019.10:g.42348398G>A	TOPMed,gnomAD
rs1429268808	p.Ala743Pro	missense variant	-	NC_000019.10:g.42348401G>C	gnomAD
rs995652263	p.Ala743Asp	missense variant	-	NC_000019.10:g.42348402C>A	TOPMed
rs1015184528	p.Val744Met	missense variant	-	NC_000019.10:g.42348404G>A	TOPMed,gnomAD
rs1015184528	p.Val744Leu	missense variant	-	NC_000019.10:g.42348404G>T	TOPMed,gnomAD
rs780516160	p.Thr746Ser	missense variant	-	NC_000019.10:g.42348410A>T	ExAC,gnomAD
rs1164738747	p.Thr746Met	missense variant	-	NC_000019.10:g.42348411C>T	gnomAD
rs747864649	p.Arg747Gln	missense variant	-	NC_000019.10:g.42348414G>A	ExAC,TOPMed,gnomAD
rs755762002	p.Gln749Ter	stop gained	-	NC_000019.10:g.42348419C>T	ExAC,gnomAD
rs951718542	p.Arg750Cys	missense variant	-	NC_000019.10:g.42348422C>T	TOPMed,gnomAD
rs1312728447	p.Arg750His	missense variant	-	NC_000019.10:g.42348423G>A	gnomAD
rs566246088	p.His752Gln	missense variant	-	NC_000019.10:g.42348430C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1246678294	p.Val753Ile	missense variant	-	NC_000019.10:g.42348431G>A	TOPMed,gnomAD
rs1315012536	p.Arg756Gln	missense variant	-	NC_000019.10:g.42348441G>A	TOPMed,gnomAD
rs1291962165	p.Arg756Trp	missense variant	-	NC_000019.10:g.42348440C>T	gnomAD
rs776281127	p.Arg759Cys	missense variant	-	NC_000019.10:g.42348449C>T	ExAC,TOPMed,gnomAD
rs1465559937	p.Arg759His	missense variant	-	NC_000019.10:g.42348450G>A	gnomAD
rs1465559937	p.Arg759Leu	missense variant	-	NC_000019.10:g.42348450G>T	gnomAD
rs912796877	p.Thr763Met	missense variant	-	NC_000019.10:g.42348462C>T	TOPMed,gnomAD
rs751917185	p.Arg771Leu	missense variant	-	NC_000019.10:g.42349512G>T	ExAC,TOPMed,gnomAD
rs751917185	p.Arg771His	missense variant	-	NC_000019.10:g.42349512G>A	ExAC,TOPMed,gnomAD
rs766961466	p.Arg771Cys	missense variant	-	NC_000019.10:g.42349511C>T	ExAC,TOPMed,gnomAD
rs1352538245	p.His775Leu	missense variant	-	NC_000019.10:g.42349524A>T	TOPMed,gnomAD
rs1352538245	p.His775Arg	missense variant	-	NC_000019.10:g.42349524A>G	TOPMed,gnomAD
rs755366410	p.Gln776Ter	stop gained	-	NC_000019.10:g.42349526C>T	ExAC,gnomAD
rs1280044524	p.Gln776His	missense variant	-	NC_000019.10:g.42349528G>T	gnomAD
COSM6150884	p.Glu777Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42349529G>A	NCI-TCGA Cosmic
rs777295481	p.Thr780Ala	missense variant	-	NC_000019.10:g.42349538A>G	ExAC,gnomAD
rs549937261	p.Thr780Met	missense variant	-	NC_000019.10:g.42349539C>T	ExAC,TOPMed,gnomAD
COSM6150881	p.Thr780Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42349538A>C	NCI-TCGA Cosmic
rs146355445	p.Arg781Gln	missense variant	-	NC_000019.10:g.42349542G>A	ESP,ExAC,TOPMed,gnomAD
rs745353025	p.Arg781Trp	missense variant	-	NC_000019.10:g.42349541C>T	ExAC,TOPMed,gnomAD
rs1436403322	p.Arg782Leu	missense variant	-	NC_000019.10:g.42349545G>T	TOPMed,gnomAD
rs1436403322	p.Arg782Gln	missense variant	-	NC_000019.10:g.42349545G>A	TOPMed,gnomAD
rs1281253733	p.Arg782Trp	missense variant	-	NC_000019.10:g.42349544C>T	gnomAD
rs780031708	p.Leu783Val	missense variant	-	NC_000019.10:g.42349547C>G	ExAC,TOPMed,gnomAD
rs1253200993	p.Gln784Ter	stop gained	-	NC_000019.10:g.42349550C>T	gnomAD
rs746842471	p.Arg785Cys	missense variant	-	NC_000019.10:g.42349553C>T	ExAC,gnomAD
COSM1481139	p.Arg785His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42349554G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro786Leu	missense variant	-	NC_000019.10:g.42349557C>T	NCI-TCGA
rs1427969966	p.Pro786Ala	missense variant	-	NC_000019.10:g.42349556C>G	gnomAD
rs114954140	p.Pro786Arg	missense variant	-	NC_000019.10:g.42349557C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1173936888	p.Gly787Trp	missense variant	-	NC_000019.10:g.42349559G>T	gnomAD
COSM4924813	p.Ala789Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42349565G>T	NCI-TCGA Cosmic
rs745557568	p.Arg790His	missense variant	-	NC_000019.10:g.42349569G>A	ExAC,TOPMed,gnomAD
rs544202578	p.Arg790Cys	missense variant	-	NC_000019.10:g.42349568C>T	ExAC,TOPMed,gnomAD
rs745557568	p.Arg790Leu	missense variant	-	NC_000019.10:g.42349569G>T	ExAC,TOPMed,gnomAD
COSM997351	p.Leu791Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42349571C>A	NCI-TCGA Cosmic
rs1402965580	p.Phe792Leu	missense variant	-	NC_000019.10:g.42349574T>C	gnomAD
rs1301438913	p.Phe792Leu	missense variant	-	NC_000019.10:g.42349576C>A	gnomAD
rs972059706	p.Pro793Ser	missense variant	-	NC_000019.10:g.42349577C>T	TOPMed
rs919236826	p.Pro795Thr	missense variant	-	NC_000019.10:g.42349583C>A	TOPMed,gnomAD
rs1437511341	p.Pro795Leu	missense variant	-	NC_000019.10:g.42349584C>T	gnomAD
rs368683081	p.Arg797Gln	missense variant	-	NC_000019.10:g.42349590G>A	ESP,ExAC,TOPMed,gnomAD
rs1337643987	p.Arg797Trp	missense variant	-	NC_000019.10:g.42349589C>T	gnomAD
rs1203020777	p.Asp798Asn	missense variant	-	NC_000019.10:g.42349592G>A	gnomAD
rs944050655	p.Lys800Arg	missense variant	-	NC_000019.10:g.42349599A>G	TOPMed,gnomAD
rs767876302	p.Tyr801Ter	stop gained	-	NC_000019.10:g.42349603T>A	ExAC,gnomAD
rs1200311796	p.Val803Ile	missense variant	-	NC_000019.10:g.42349607G>A	gnomAD
rs184412435	p.Gln806His	missense variant	-	NC_000019.10:g.42349618G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1240032863	p.Gln806Ter	stop gained	-	NC_000019.10:g.42349616C>T	gnomAD
rs1169002649	p.Gly807Cys	missense variant	-	NC_000019.10:g.42349619G>T	gnomAD
rs1422741735	p.Asn810Ser	missense variant	-	NC_000019.10:g.42349629A>G	gnomAD
rs1390174601	p.Gly811Ser	missense variant	-	NC_000019.10:g.42349631G>A	gnomAD
rs372613242	p.Ser812Leu	missense variant	-	NC_000019.10:g.42349635C>T	ESP,ExAC,TOPMed,gnomAD
rs1167963909	p.Ala813Thr	missense variant	-	NC_000019.10:g.42349637G>A	gnomAD
rs746904563	p.Gly816Arg	missense variant	-	NC_000019.10:g.42349646G>A	ExAC,gnomAD
rs151116615	p.His817Arg	missense variant	-	NC_000019.10:g.42349650A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1430256867	p.His817Tyr	missense variant	-	NC_000019.10:g.42349649C>T	gnomAD
rs747919363	p.Ser818Asn	missense variant	-	NC_000019.10:g.42349653G>A	ExAC,gnomAD
rs780999517	p.Ser818Gly	missense variant	-	NC_000019.10:g.42349652A>G	ExAC,gnomAD
NCI-TCGA novel	p.Glu819Gly	missense variant	-	NC_000019.10:g.42349656A>G	NCI-TCGA
rs1424452415	p.Glu819Lys	missense variant	-	NC_000019.10:g.42349655G>A	TOPMed
NCI-TCGA novel	p.Leu823Met	missense variant	-	NC_000019.10:g.42349667C>A	NCI-TCGA
COSM4078751	p.Asp825Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42349674A>G	NCI-TCGA Cosmic
rs775071124	p.Arg826Gln	missense variant	-	NC_000019.10:g.42349677G>A	TOPMed,gnomAD
rs749384463	p.Arg826Trp	missense variant	-	NC_000019.10:g.42349676C>T	ExAC,gnomAD
rs1446128695	p.Gly828Ser	missense variant	-	NC_000019.10:g.42349682G>A	gnomAD
rs530378456	p.Val829Met	missense variant	-	NC_000019.10:g.42349685G>A	1000Genomes,ExAC,gnomAD
rs774744502	p.Pro830Arg	missense variant	-	NC_000019.10:g.42349689C>G	ExAC,gnomAD
rs1442524232	p.Gly831Glu	missense variant	-	NC_000019.10:g.42349692G>A	gnomAD
COSM1394121	p.Ser833Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42349699C>A	NCI-TCGA Cosmic
rs1302692979	p.Phe837Ser	missense variant	-	NC_000019.10:g.42350158T>C	gnomAD
NCI-TCGA novel	p.Pro842Ser	missense variant	-	NC_000019.10:g.42350172C>T	NCI-TCGA
rs755969171	p.Arg844Cys	missense variant	-	NC_000019.10:g.42350178C>T	ExAC,TOPMed,gnomAD
rs1327415941	p.Arg844His	missense variant	-	NC_000019.10:g.42350179G>A	TOPMed,gnomAD
rs1228508440	p.Ser845Leu	missense variant	-	NC_000019.10:g.42350182C>T	gnomAD
rs148207079	p.Ser846Leu	missense variant	-	NC_000019.10:g.42350185C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM261963	p.Ser846Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42350184T>C	NCI-TCGA Cosmic
rs1256406330	p.Cys848Tyr	missense variant	-	NC_000019.10:g.42350191G>A	gnomAD
rs745915167	p.Thr849Ile	missense variant	-	NC_000019.10:g.42350194C>T	ExAC,gnomAD
rs921232961	p.Ser850Phe	missense variant	-	NC_000019.10:g.42350197C>T	TOPMed,gnomAD
rs1249769083	p.Tyr851Cys	missense variant	-	NC_000019.10:g.42350200A>G	TOPMed,gnomAD
rs1249769083	p.Tyr851Phe	missense variant	-	NC_000019.10:g.42350200A>T	TOPMed,gnomAD
rs1183003484	p.Ser853Phe	missense variant	-	NC_000019.10:g.42350206C>T	gnomAD
rs1479618243	p.Gly856Cys	missense variant	-	NC_000019.10:g.42350214G>T	gnomAD
rs1175589590	p.Ala859Val	missense variant	-	NC_000019.10:g.42350224C>T	gnomAD
rs954115363	p.Gln861Ter	stop gained	-	NC_000019.10:g.42350229C>T	TOPMed,gnomAD
rs1467923818	p.Gly862Asp	missense variant	-	NC_000019.10:g.42350233G>A	gnomAD
rs1166479097	p.Cys863Arg	missense variant	-	NC_000019.10:g.42350235T>C	gnomAD
rs1410920469	p.Cys866Trp	missense variant	-	NC_000019.10:g.42350246C>G	gnomAD
rs775976318	p.Cys866Gly	missense variant	-	NC_000019.10:g.42350244T>G	ExAC,gnomAD
COSM997357	p.Ala870Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42350257C>T	NCI-TCGA Cosmic
rs1301566794	p.His873Tyr	missense variant	-	NC_000019.10:g.42350265C>T	gnomAD
rs545610720	p.Leu874Val	missense variant	-	NC_000019.10:g.42350268C>G	1000Genomes,ExAC,gnomAD
rs762624155	p.Arg875Cys	missense variant	-	NC_000019.10:g.42350271C>T	ExAC,gnomAD
rs149768800	p.Arg875His	missense variant	-	NC_000019.10:g.42350272G>A	ESP,ExAC,TOPMed,gnomAD
rs1207205974	p.Gly877Asp	missense variant	-	NC_000019.10:g.42350278G>A	gnomAD
rs754432292	p.Gly878Arg	missense variant	-	NC_000019.10:g.42350280G>A	ExAC,TOPMed,gnomAD
rs1321978791	p.Ala879Val	missense variant	-	NC_000019.10:g.42350284C>T	TOPMed
rs147886477	p.Ala879Ser	missense variant	-	NC_000019.10:g.42350283G>T	ESP,ExAC,TOPMed,gnomAD
rs1435063534	p.His880Tyr	missense variant	-	NC_000019.10:g.42350286C>T	gnomAD
rs1447066779	p.His880Arg	missense variant	-	NC_000019.10:g.42350287A>G	gnomAD
rs755995994	p.Cys881Arg	missense variant	-	NC_000019.10:g.42350289T>C	ExAC,gnomAD
rs1389934553	p.Cys881Tyr	missense variant	-	NC_000019.10:g.42350290G>A	gnomAD
rs147068787	p.Gly882Arg	missense variant	-	NC_000019.10:g.42350292G>A	ESP,ExAC,TOPMed,gnomAD
rs1364196781	p.Asp883Asn	missense variant	-	NC_000019.10:g.42350295G>A	gnomAD
rs200383522	p.Asp884Glu	missense variant	-	NC_000019.10:g.42350300C>G	1000Genomes,ExAC,TOPMed,gnomAD
COSM5073521	p.Asp884Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42350298G>A	NCI-TCGA Cosmic
rs746031284	p.Gly885Arg	missense variant	-	NC_000019.10:g.42350301G>A	ExAC,TOPMed,gnomAD
rs771983135	p.Gly885Glu	missense variant	-	NC_000019.10:g.42350302G>A	ExAC,TOPMed,gnomAD
rs1296683820	p.Ala886Gly	missense variant	-	NC_000019.10:g.42350305C>G	gnomAD
rs1365622775	p.Gly887Asp	missense variant	-	NC_000019.10:g.42350308G>A	gnomAD
rs540243963	p.Leu893Val	missense variant	-	NC_000019.10:g.42350325C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1220937266	p.Thr896Asn	missense variant	-	NC_000019.10:g.42350335C>A	gnomAD
rs777017134	p.Leu897Phe	missense variant	-	NC_000019.10:g.42350337C>T	ExAC,gnomAD
NCI-TCGA novel	p.Pro899Leu	missense variant	-	NC_000019.10:g.42350344C>T	NCI-TCGA
rs1186872690	p.Pro899Ala	missense variant	-	NC_000019.10:g.42350343C>G	gnomAD
rs762059116	p.Leu900Ile	missense variant	-	NC_000019.10:g.42350346C>A	ExAC,gnomAD
rs1383927945	p.Glu902Gly	missense variant	-	NC_000019.10:g.42350353A>G	gnomAD
rs773870498	p.Glu902Lys	missense variant	-	NC_000019.10:g.42350352G>A	ExAC,TOPMed,gnomAD
COSM261966	p.Glu903Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42350357G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg905Gln	missense variant	-	NC_000019.10:g.42350362G>A	NCI-TCGA
rs375529059	p.Arg905Trp	missense variant	-	NC_000019.10:g.42350361C>T	ESP,ExAC,TOPMed,gnomAD
rs1351111807	p.Asp906Tyr	missense variant	-	NC_000019.10:g.42350364G>T	gnomAD
rs1316350508	p.His908Arg	missense variant	-	NC_000019.10:g.42350371A>G	TOPMed
rs752713774	p.His908Gln	missense variant	-	NC_000019.10:g.42350372C>A	ExAC,TOPMed,gnomAD
rs760736368	p.Ala909Thr	missense variant	-	NC_000019.10:g.42350373G>A	ExAC,gnomAD
rs1218160789	p.Pro914Ser	missense variant	-	NC_000019.10:g.42351219C>T	TOPMed
rs1273310964	p.Phe915Leu	missense variant	-	NC_000019.10:g.42351222T>C	TOPMed,gnomAD
rs1344496906	p.Glu917Lys	missense variant	-	NC_000019.10:g.42351228G>A	gnomAD
rs771820597	p.Glu917Gly	missense variant	-	NC_000019.10:g.42351229A>G	ExAC,TOPMed,gnomAD
rs866183199	p.Trp918Cys	missense variant	-	NC_000019.10:g.42351233G>T	gnomAD
rs866183199	p.Trp918Ter	stop gained	-	NC_000019.10:g.42351233G>A	gnomAD
rs1205032424	p.His919Tyr	missense variant	-	NC_000019.10:g.42351234C>T	gnomAD
rs1251984988	p.Gln920Glu	missense variant	-	NC_000019.10:g.42351237C>G	gnomAD
rs775190705	p.Thr922Pro	missense variant	-	NC_000019.10:g.42351243A>C	ExAC,gnomAD
rs866701843	p.Ser923Arg	missense variant	-	NC_000019.10:g.42351248C>A	gnomAD
rs760250242	p.Arg924Cys	missense variant	-	NC_000019.10:g.42351249C>T	ExAC,TOPMed,gnomAD
rs368247409	p.Arg924His	missense variant	-	NC_000019.10:g.42351250G>A	ESP,ExAC,TOPMed,gnomAD
rs1388058258	p.Gly926Arg	missense variant	-	NC_000019.10:g.42351255G>A	gnomAD
rs1429104342	p.Gly926Ala	missense variant	-	NC_000019.10:g.42351256G>C	gnomAD
rs1324351564	p.Asp927Gly	missense variant	-	NC_000019.10:g.42351259A>G	TOPMed
rs761765707	p.Asp927Glu	missense variant	-	NC_000019.10:g.42351260C>A	ExAC,TOPMed,gnomAD
rs372083317	p.Ala928Thr	missense variant	-	NC_000019.10:g.42351261G>A	ESP,ExAC,TOPMed,gnomAD
rs200104182	p.Ala928Val	missense variant	-	NC_000019.10:g.42351262C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1437426754	p.Ala929Ser	missense variant	-	NC_000019.10:g.42351264G>T	gnomAD
rs1277010438	p.Cys930Arg	missense variant	-	NC_000019.10:g.42351267T>C	gnomAD
rs1275986175	p.Arg932Gln	missense variant	-	NC_000019.10:g.42351274G>A	TOPMed,gnomAD
rs1024656947	p.Arg932Trp	missense variant	-	NC_000019.10:g.42351273C>T	gnomAD
rs1207577441	p.Arg933Gln	missense variant	-	NC_000019.10:g.42351277G>A	gnomAD
rs766562569	p.Arg933Trp	missense variant	-	NC_000019.10:g.42351276C>T	ExAC,gnomAD
rs1288503022	p.Gly934Ser	missense variant	-	NC_000019.10:g.42351279G>A	gnomAD
rs755045738	p.Arg935Gln	missense variant	-	NC_000019.10:g.42351283G>A	ExAC,TOPMed,gnomAD
rs529287618	p.Arg935Trp	missense variant	-	NC_000019.10:g.42351282C>T	1000Genomes,ExAC,gnomAD
rs980600086	p.Arg937Gln	missense variant	-	NC_000019.10:g.42351289G>A	TOPMed,gnomAD
rs781666509	p.Arg937Trp	missense variant	-	NC_000019.10:g.42351288C>T	ExAC,TOPMed
rs756533048	p.Gly938Val	missense variant	-	NC_000019.10:g.42351292G>T	ExAC,TOPMed,gnomAD
rs756533048	p.Gly938Asp	missense variant	-	NC_000019.10:g.42351292G>A	ExAC,TOPMed,gnomAD
rs748545141	p.Gly938Cys	missense variant	-	NC_000019.10:g.42351291G>T	ExAC,gnomAD
rs748545141	p.Gly938Ser	missense variant	-	NC_000019.10:g.42351291G>A	ExAC,gnomAD
rs1161584733	p.Ala939Thr	missense variant	-	NC_000019.10:g.42351294G>A	gnomAD
rs1406237962	p.Lys941Arg	missense variant	-	NC_000019.10:g.42351301A>G	gnomAD
rs1328149458	p.Ser942Asn	missense variant	-	NC_000019.10:g.42351304G>A	TOPMed,gnomAD
rs1386650004	p.Pro943Ser	missense variant	-	NC_000019.10:g.42351306C>T	gnomAD
rs1386650004	p.Pro943Thr	missense variant	-	NC_000019.10:g.42351306C>A	gnomAD
rs1273431721	p.Glu945Val	missense variant	-	NC_000019.10:g.42351313A>T	gnomAD
rs1434872043	p.Glu945Asp	missense variant	-	NC_000019.10:g.42351314G>T	gnomAD
rs1298736847	p.Cys946Tyr	missense variant	-	NC_000019.10:g.42351316G>A	gnomAD
rs1368035951	p.Pro947Ser	missense variant	-	NC_000019.10:g.42351318C>T	TOPMed,gnomAD
rs1368035951	p.Pro947Thr	missense variant	-	NC_000019.10:g.42351318C>A	TOPMed,gnomAD
rs1368035951	p.Pro947Ala	missense variant	-	NC_000019.10:g.42351318C>G	TOPMed,gnomAD
rs1283163475	p.Pro948Ser	missense variant	-	NC_000019.10:g.42351321C>T	gnomAD
rs771693018	p.Pro948Arg	missense variant	-	NC_000019.10:g.42351322C>G	ExAC,gnomAD
rs771693018	p.Pro948Leu	missense variant	-	NC_000019.10:g.42351322C>T	ExAC,gnomAD
rs1265855018	p.Leu949Phe	missense variant	-	NC_000019.10:g.42351324C>T	TOPMed,gnomAD
rs1464129245	p.Gln952Ter	stop gained	-	NC_000019.10:g.42351333C>T	gnomAD
rs757631754	p.Arg953Ter	stop gained	-	NC_000019.10:g.42351430C>T	ExAC,TOPMed,gnomAD
rs972397636	p.Arg953Gln	missense variant	-	NC_000019.10:g.42351431G>A	TOPMed,gnomAD
rs1202934298	p.Asp958Asn	missense variant	-	NC_000019.10:g.42351445G>A	gnomAD
rs1482777933	p.Asp958Glu	missense variant	-	NC_000019.10:g.42351447C>G	gnomAD
rs1272645695	p.Asp958Gly	missense variant	-	NC_000019.10:g.42351446A>G	gnomAD
rs1198657231	p.Ala961Val	missense variant	-	NC_000019.10:g.42351455C>T	gnomAD
rs1431607160	p.Ala961Thr	missense variant	-	NC_000019.10:g.42351454G>A	gnomAD
rs1378541832	p.Ser963Phe	missense variant	-	NC_000019.10:g.42351461C>T	gnomAD
rs149088443	p.Ser964Gly	missense variant	-	NC_000019.10:g.42351463A>G	ESP,gnomAD
rs1167245424	p.Ser964Asn	missense variant	-	NC_000019.10:g.42351464G>A	TOPMed,gnomAD
rs773071296	p.Cys966Trp	missense variant	-	NC_000019.10:g.42351471C>G	ExAC,TOPMed,gnomAD
rs773071296	p.Cys966Ter	stop gained	-	NC_000019.10:g.42351471C>A	ExAC,TOPMed,gnomAD
rs143160271	p.Ala967Thr	missense variant	-	NC_000019.10:g.42351472G>A	ESP,ExAC,gnomAD
rs1311031160	p.Cys969Tyr	missense variant	-	NC_000019.10:g.42351479G>A	TOPMed
rs1354670294	p.Cys969Gly	missense variant	-	NC_000019.10:g.42351478T>G	TOPMed
rs955021153	p.Gln970His	missense variant	-	NC_000019.10:g.42351483G>T	TOPMed,gnomAD
rs773198385	p.Gln970Ter	stop gained	-	NC_000019.10:g.42351481C>T	ExAC,gnomAD
rs1225831456	p.Ser971Tyr	missense variant	-	NC_000019.10:g.42351485C>A	gnomAD
rs774578166	p.Leu977Pro	missense variant	-	NC_000019.10:g.42351503T>C	ExAC,TOPMed,gnomAD
rs1268562853	p.Ala983Val	missense variant	-	NC_000019.10:g.42351521C>T	gnomAD
rs1455864571	p.Arg984Trp	missense variant	-	NC_000019.10:g.42351523C>T	gnomAD
rs759793369	p.Arg984Gln	missense variant	-	NC_000019.10:g.42351524G>A	ExAC,TOPMed,gnomAD
rs1051196312	p.Tyr985His	missense variant	-	NC_000019.10:g.42351526T>C	gnomAD
rs1171956527	p.Pro986Arg	missense variant	-	NC_000019.10:g.42351530C>G	gnomAD
rs752775785	p.His987Asp	missense variant	-	NC_000019.10:g.42351532C>G	ExAC,gnomAD
rs764510742	p.Gly988Arg	missense variant	-	NC_000019.10:g.42351535G>A	ExAC,TOPMed,gnomAD
rs757715325	p.Gly989Asp	missense variant	-	NC_000019.10:g.42351539G>A	ExAC,gnomAD
rs539307956	p.Gly989Ser	missense variant	-	NC_000019.10:g.42351538G>A	1000Genomes,gnomAD
rs757715325	p.Gly989Ala	missense variant	-	NC_000019.10:g.42351539G>C	ExAC,gnomAD
rs1216223600	p.Cys990Gly	missense variant	-	NC_000019.10:g.42351541T>G	gnomAD
rs779375840	p.Arg991Ter	stop gained	-	NC_000019.10:g.42351544C>T	ExAC,TOPMed,gnomAD
rs1319984417	p.Arg991Gln	missense variant	-	NC_000019.10:g.42351545G>A	gnomAD
rs1244078464	p.Gly992Ser	missense variant	-	NC_000019.10:g.42351547G>A	gnomAD
rs1274040917	p.Trp993Arg	missense variant	-	NC_000019.10:g.42351550T>A	gnomAD
rs200485103	p.Asp994Asn	missense variant	-	NC_000019.10:g.42351553G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs780887227	p.Asp995Asn	missense variant	-	NC_000019.10:g.42351556G>A	ExAC,TOPMed,gnomAD
rs1223817524	p.Ser996Thr	missense variant	-	NC_000019.10:g.42351560G>C	TOPMed
rs1223817524	p.Ser996Ile	missense variant	-	NC_000019.10:g.42351560G>T	TOPMed
rs1173646075	p.Val997Ala	missense variant	-	NC_000019.10:g.42351650T>C	gnomAD
rs1358525262	p.His998Tyr	missense variant	-	NC_000019.10:g.42351652C>T	gnomAD
rs780715056	p.Ser999Leu	missense variant	-	NC_000019.10:g.42351656C>T	ExAC,gnomAD
rs1287970572	p.Pro1001Leu	missense variant	-	NC_000019.10:g.42351662C>T	gnomAD
rs1408017534	p.Pro1001Ser	missense variant	-	NC_000019.10:g.42351661C>T	gnomAD
rs1408017534	p.Pro1001Thr	missense variant	-	NC_000019.10:g.42351661C>A	gnomAD
rs372885044	p.Arg1002Gln	missense variant	-	NC_000019.10:g.42351665G>A	ESP,ExAC,TOPMed,gnomAD
rs1374279391	p.Arg1002Trp	missense variant	-	NC_000019.10:g.42351664C>T	TOPMed,gnomAD
rs372885044	p.Arg1002Pro	missense variant	-	NC_000019.10:g.42351665G>C	ESP,ExAC,TOPMed,gnomAD
COSM1394132	p.Cys1003Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42351667T>C	NCI-TCGA Cosmic
RCV000658840	p.Arg1004Trp	missense variant	-	NC_000019.10:g.42351670C>T	ClinVar
RCV000691254	p.Arg1004Trp	missense variant	Carpenter syndrome 2 (CRPT2)	NC_000019.10:g.42351670C>T	ClinVar
rs770911706	p.Arg1004Pro	missense variant	-	NC_000019.10:g.42351671G>C	ExAC,TOPMed,gnomAD
rs141383715	p.Arg1004Trp	missense variant	-	NC_000019.10:g.42351670C>T	ESP,ExAC,TOPMed,gnomAD
rs770911706	p.Arg1004Gln	missense variant	-	NC_000019.10:g.42351671G>A	ExAC,TOPMed,gnomAD
rs778816177	p.Cys1006Tyr	missense variant	-	NC_000019.10:g.42351677G>A	ExAC,gnomAD
rs1233127460	p.Asp1007Gly	missense variant	-	NC_000019.10:g.42351680A>G	gnomAD
rs771840324	p.Asp1007Asn	missense variant	-	NC_000019.10:g.42351679G>A	ExAC,TOPMed,gnomAD
rs1470930110	p.Gly1008Asp	missense variant	-	NC_000019.10:g.42351683G>A	gnomAD
NCI-TCGA novel	p.Phe1009Ser	missense variant	-	NC_000019.10:g.42351686T>C	NCI-TCGA
rs760908525	p.Phe1009Leu	missense variant	-	NC_000019.10:g.42351687C>G	ExAC,gnomAD
rs1435332644	p.Leu1010Pro	missense variant	-	NC_000019.10:g.42351689T>C	TOPMed,gnomAD
rs768725087	p.Thr1011Pro	missense variant	-	NC_000019.10:g.42351691A>C	ExAC,gnomAD
rs1368558165	p.Cys1012Phe	missense variant	-	NC_000019.10:g.42351695G>T	TOPMed,gnomAD
rs1368558165	p.Cys1012Tyr	missense variant	-	NC_000019.10:g.42351695G>A	TOPMed,gnomAD
rs761975438	p.His1013Asp	missense variant	-	NC_000019.10:g.42351697C>G	ExAC,TOPMed,gnomAD
rs1392629678	p.Glu1014Gln	missense variant	-	NC_000019.10:g.42351700G>C	TOPMed
rs765914934	p.Glu1014Ala	missense variant	-	NC_000019.10:g.42351701A>C	ExAC,gnomAD
rs1355388057	p.Leu1016Val	missense variant	-	NC_000019.10:g.42351706C>G	gnomAD
rs1273508107	p.Gln1017Ter	stop gained	-	NC_000019.10:g.42351709C>T	gnomAD
rs913793350	p.Glu1020Lys	missense variant	-	NC_000019.10:g.42351718G>A	gnomAD
rs913793350	p.Glu1020Gln	missense variant	-	NC_000019.10:g.42351718G>C	gnomAD
rs1372970036	p.Trp1023Cys	missense variant	-	NC_000019.10:g.42351729G>C	TOPMed
rs763242460	p.Cys1024Gly	missense variant	-	NC_000019.10:g.42351730T>G	ExAC,gnomAD
rs766718776	p.Cys1024Trp	missense variant	-	NC_000019.10:g.42351732T>G	ExAC,gnomAD
rs1273067513	p.Gly1025Asp	missense variant	-	NC_000019.10:g.42351734G>A	gnomAD
rs1218914256	p.Asp1028Gly	missense variant	-	NC_000019.10:g.42351743A>G	TOPMed,gnomAD
rs752323870	p.Asn1029Ser	missense variant	-	NC_000019.10:g.42351746A>G	ExAC,gnomAD
rs755839114	p.Thr1031Ala	missense variant	-	NC_000019.10:g.42351751A>G	ExAC,gnomAD
rs753410940	p.Leu1032Val	missense variant	-	NC_000019.10:g.42351754C>G	ExAC,TOPMed,gnomAD
rs369700472	p.Arg1034Trp	missense variant	-	NC_000019.10:g.42351760C>T	ESP,ExAC,TOPMed,gnomAD
rs778832627	p.Arg1034Leu	missense variant	-	NC_000019.10:g.42351761G>T	ExAC,TOPMed,gnomAD
rs778832627	p.Arg1034Gln	missense variant	-	NC_000019.10:g.42351761G>A	ExAC,TOPMed,gnomAD
rs1440575936	p.Gly1038Glu	missense variant	-	NC_000019.10:g.42352219G>A	gnomAD
rs1185569170	p.Asp1039Asn	missense variant	-	NC_000019.10:g.42352221G>A	gnomAD
rs753429196	p.Ser1041Leu	missense variant	-	NC_000019.10:g.42352228C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly1042Trp	missense variant	-	NC_000019.10:g.42352230G>T	NCI-TCGA
rs1465547284	p.Gly1042Arg	missense variant	-	NC_000019.10:g.42352230G>A	TOPMed
rs1188577037	p.Pro1043Thr	missense variant	-	NC_000019.10:g.42352233C>A	gnomAD
rs1190351849	p.Pro1043Leu	missense variant	-	NC_000019.10:g.42352234C>T	gnomAD
rs1272621960	p.Leu1044Pro	missense variant	-	NC_000019.10:g.42352237T>C	TOPMed
rs764684398	p.Gly1045Ala	missense variant	-	NC_000019.10:g.42352240G>C	ExAC,TOPMed,gnomAD
rs756780589	p.Gly1045Cys	missense variant	-	NC_000019.10:g.42352239G>T	ExAC,TOPMed,gnomAD
rs764684398	p.Gly1045Asp	missense variant	-	NC_000019.10:g.42352240G>A	ExAC,TOPMed,gnomAD
rs756780589	p.Gly1045Ser	missense variant	-	NC_000019.10:g.42352239G>A	ExAC,TOPMed,gnomAD
rs1186791005	p.Gly1046Glu	missense variant	-	NC_000019.10:g.42352243G>A	gnomAD
rs751571654	p.Gly1047Ala	missense variant	-	NC_000019.10:g.42352246G>C	TOPMed
rs1320734567	p.Gly1047Cys	missense variant	-	NC_000019.10:g.42352245G>T	TOPMed
rs751571654	p.Gly1047Asp	missense variant	-	NC_000019.10:g.42352246G>A	TOPMed
rs1388992387	p.Cys1049Arg	missense variant	-	NC_000019.10:g.42352251T>C	TOPMed
rs202039332	p.Trp1052Arg	missense variant	-	NC_000019.10:g.42352260T>C	ESP,ExAC,TOPMed,gnomAD
rs1419895019	p.Gly1054Arg	missense variant	-	NC_000019.10:g.42352266G>A	TOPMed
rs779846533	p.Gly1054Glu	missense variant	-	NC_000019.10:g.42352267G>A	ExAC,gnomAD
rs1334764258	p.Glu1055Lys	missense variant	-	NC_000019.10:g.42352269G>A	gnomAD
rs746892451	p.Gly1056Ala	missense variant	-	NC_000019.10:g.42352273G>C	ExAC,gnomAD
rs1486044137	p.Leu1059Phe	missense variant	-	NC_000019.10:g.42352281C>T	gnomAD
rs1249923163	p.Val1061Met	missense variant	-	NC_000019.10:g.42352287G>A	TOPMed,gnomAD
rs1249923163	p.Val1061Leu	missense variant	-	NC_000019.10:g.42352287G>C	TOPMed,gnomAD
rs964404973	p.Ala1062Thr	missense variant	-	NC_000019.10:g.42352290G>A	TOPMed,gnomAD
rs964404973	p.Ala1062Ser	missense variant	-	NC_000019.10:g.42352290G>T	TOPMed,gnomAD
rs1183035992	p.Leu1063Phe	missense variant	-	NC_000019.10:g.42352293C>T	gnomAD
rs770026911	p.Pro1064Thr	missense variant	-	NC_000019.10:g.42352296C>A	ExAC,TOPMed,gnomAD
rs770026911	p.Pro1064Ala	missense variant	-	NC_000019.10:g.42352296C>G	ExAC,TOPMed,gnomAD
rs773382680	p.Pro1064His	missense variant	-	NC_000019.10:g.42352297C>A	ExAC,TOPMed,gnomAD
rs770026911	p.Pro1064Ser	missense variant	-	NC_000019.10:g.42352296C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala1065ProPheSerTerUnkUnk	frameshift	-	NC_000019.10:g.42352298T>-	NCI-TCGA
rs771533990	p.Arg1066Pro	missense variant	-	NC_000019.10:g.42352303G>C	ExAC,TOPMed,gnomAD
rs550956511	p.Arg1066Cys	missense variant	-	NC_000019.10:g.42352302C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs771533990	p.Arg1066Leu	missense variant	-	NC_000019.10:g.42352303G>T	ExAC,TOPMed,gnomAD
rs771533990	p.Arg1066His	missense variant	-	NC_000019.10:g.42352303G>A	ExAC,TOPMed,gnomAD
rs550956511	p.Arg1066Ser	missense variant	-	NC_000019.10:g.42352302C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1365393486	p.Ala1068Ser	missense variant	-	NC_000019.10:g.42352308G>T	TOPMed
rs772370974	p.Ala1070Thr	missense variant	-	NC_000019.10:g.42352314G>A	ExAC,TOPMed,gnomAD
rs776294154	p.Arg1071Cys	missense variant	-	NC_000019.10:g.42352317C>T	ExAC,TOPMed,gnomAD
rs1329121493	p.Arg1071His	missense variant	-	NC_000019.10:g.42352318G>A	gnomAD
rs956561294	p.Cys1072Ser	missense variant	-	NC_000019.10:g.42352321G>C	TOPMed
rs1233212838	p.Pro1073Leu	missense variant	-	NC_000019.10:g.42352324C>T	gnomAD
rs1394320984	p.Asp1074Asn	missense variant	-	NC_000019.10:g.42352326G>A	TOPMed
rs1349909441	p.Val1075Met	missense variant	-	NC_000019.10:g.42352329G>A	TOPMed,gnomAD
rs1272534208	p.Asp1076Tyr	missense variant	-	NC_000019.10:g.42352332G>T	gnomAD
rs762369657	p.Arg1079His	missense variant	-	NC_000019.10:g.42352342G>A	ExAC,TOPMed,gnomAD
rs1252854271	p.Arg1079Cys	missense variant	-	NC_000019.10:g.42352341C>T	gnomAD
rs762369657	p.Arg1079Leu	missense variant	-	NC_000019.10:g.42352342G>T	ExAC,TOPMed,gnomAD
rs908722189	p.Arg1084Trp	missense variant	-	NC_000019.10:g.42352356C>T	TOPMed,gnomAD
rs865798770	p.Arg1084Gln	missense variant	-	NC_000019.10:g.42352357G>A	gnomAD
rs865798770	p.Arg1084Leu	missense variant	-	NC_000019.10:g.42352357G>T	gnomAD
COSM3797148	p.Cys1085Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42352360G>A	NCI-TCGA Cosmic
rs781096678	p.Pro1087Leu	missense variant	-	NC_000019.10:g.42352366C>T	ExAC,TOPMed,gnomAD
rs781096678	p.Pro1087Gln	missense variant	-	NC_000019.10:g.42352366C>A	ExAC,TOPMed,gnomAD
rs777852895	p.Arg1088Gln	missense variant	-	NC_000019.10:g.42352369G>A	ExAC,gnomAD
rs756454771	p.Arg1088Trp	missense variant	-	NC_000019.10:g.42352368C>T	ExAC,TOPMed,gnomAD
rs749389938	p.Ala1089Val	missense variant	-	NC_000019.10:g.42352372C>T	ExAC,TOPMed,gnomAD
rs558173499	p.Thr1090Asn	missense variant	-	NC_000019.10:g.42352375C>A	ExAC,gnomAD
rs772535224	p.Thr1094Met	missense variant	-	NC_000019.10:g.42352387C>T	ExAC,TOPMed,gnomAD
rs775878262	p.Pro1095His	missense variant	-	NC_000019.10:g.42352390C>A	ExAC,TOPMed,gnomAD
rs1470268755	p.Leu1096Ile	missense variant	-	NC_000019.10:g.42352392C>A	gnomAD
rs868010514	p.Ser1097Asn	missense variant	-	NC_000019.10:g.42352396G>A	gnomAD
rs772677118	p.Glu1099Lys	missense variant	-	NC_000019.10:g.42352401G>A	ExAC,TOPMed,gnomAD
COSM997369	p.His1101Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42352408A>T	NCI-TCGA Cosmic
rs942040487	p.Gln1103His	missense variant	-	NC_000019.10:g.42352415G>T	TOPMed,gnomAD
NCI-TCGA novel	p.Arg1104Pro	missense variant	-	NC_000019.10:g.42352417G>C	NCI-TCGA
rs370522595	p.Arg1104Trp	missense variant	-	NC_000019.10:g.42352416C>T	ExAC,TOPMed,gnomAD
rs1460568797	p.Arg1104Gln	missense variant	-	NC_000019.10:g.42352417G>A	TOPMed,gnomAD
rs1165465895	p.Gly1105Ser	missense variant	-	NC_000019.10:g.42352419G>A	gnomAD
rs1206880480	p.Gly1108Ala	missense variant	-	NC_000019.10:g.42352429G>C	TOPMed,gnomAD
rs1432562875	p.Gly1110Val	missense variant	-	NC_000019.10:g.42352435G>T	gnomAD
rs1432562875	p.Gly1110Asp	missense variant	-	NC_000019.10:g.42352435G>A	gnomAD
rs370419567	p.His1113Tyr	missense variant	-	NC_000019.10:g.42352443C>T	ESP,ExAC,TOPMed,gnomAD
rs759589147	p.His1113Arg	missense variant	-	NC_000019.10:g.42352444A>G	ExAC,gnomAD
rs767539999	p.Asn1115Ser	missense variant	-	NC_000019.10:g.42352450A>G	ExAC,gnomAD
rs767539999	p.Asn1115Ile	missense variant	-	NC_000019.10:g.42352450A>T	ExAC,gnomAD
COSM4078757	p.Asn1115Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42352449A>G	NCI-TCGA Cosmic
rs781355884	p.Arg1116Cys	missense variant	-	NC_000019.10:g.42352452C>T	ExAC,gnomAD
rs781355884	p.Arg1116Ser	missense variant	-	NC_000019.10:g.42352452C>A	ExAC,gnomAD
rs551687173	p.Arg1116Leu	missense variant	-	NC_000019.10:g.42352453G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs551687173	p.Arg1116Pro	missense variant	-	NC_000019.10:g.42352453G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs551687173	p.Arg1116His	missense variant	-	NC_000019.10:g.42352453G>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr1117Arg	missense variant	-	NC_000019.10:g.42352456C>G	NCI-TCGA
rs753957347	p.Thr1117Met	missense variant	-	NC_000019.10:g.42352456C>T	ExAC,TOPMed,gnomAD
rs753957347	p.Thr1117Lys	missense variant	-	NC_000019.10:g.42352456C>A	ExAC,TOPMed,gnomAD
rs1377543834	p.Glu1120Lys	missense variant	-	NC_000019.10:g.42352935G>A	TOPMed,gnomAD
rs1440284990	p.Asp1121Tyr	missense variant	-	NC_000019.10:g.42352938G>T	gnomAD
rs750565790	p.Gly1123Val	missense variant	-	NC_000019.10:g.42352945G>T	ExAC,gnomAD
NCI-TCGA novel	p.His1124Gln	missense variant	-	NC_000019.10:g.42352949T>G	NCI-TCGA
rs1374530093	p.His1124Arg	missense variant	-	NC_000019.10:g.42352948A>G	TOPMed,gnomAD
rs1225767531	p.Gly1125Ser	missense variant	-	NC_000019.10:g.42352950G>A	gnomAD
rs758410324	p.Val1126Gly	missense variant	-	NC_000019.10:g.42352954T>G	ExAC,gnomAD
rs1052025305	p.Ser1128Arg	missense variant	-	NC_000019.10:g.42352961T>G	TOPMed
COSM997375	p.Ser1128Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42352961T>A	NCI-TCGA Cosmic
rs747469147	p.Ser1128Gly	missense variant	-	NC_000019.10:g.42352959A>G	ExAC,gnomAD
NCI-TCGA novel	p.Pro1130Leu	missense variant	-	NC_000019.10:g.42352966C>T	NCI-TCGA
rs781451872	p.Pro1130Thr	missense variant	-	NC_000019.10:g.42352965C>A	ExAC
NCI-TCGA novel	p.Pro1131ArgPheSerTerUnk	frameshift	-	NC_000019.10:g.42352964C>-	NCI-TCGA
RCV000396927	p.Pro1131Leu	missense variant	-	NC_000019.10:g.42352969C>T	ClinVar
rs748525586	p.Pro1131Leu	missense variant	-	NC_000019.10:g.42352969C>T	ExAC,TOPMed,gnomAD
rs748525586	p.Pro1131Arg	missense variant	-	NC_000019.10:g.42352969C>G	ExAC,TOPMed,gnomAD
rs1233037830	p.Asp1132Gly	missense variant	-	NC_000019.10:g.42352972A>G	gnomAD
rs771657070	p.Val1136Met	missense variant	-	NC_000019.10:g.42352983G>A	ExAC,TOPMed,gnomAD
rs374300363	p.Asp1138Asn	missense variant	-	NC_000019.10:g.42352989G>A	ESP,ExAC,TOPMed,gnomAD
rs374300363	p.Asp1138His	missense variant	-	NC_000019.10:g.42352989G>C	ESP,ExAC,TOPMed,gnomAD
rs1174414368	p.Leu1139Ile	missense variant	-	NC_000019.10:g.42352992C>A	gnomAD
rs200096403	p.Trp1141Ter	stop gained	-	NC_000019.10:g.42352999G>A	ExAC,TOPMed,gnomAD
rs1408225648	p.Trp1141Arg	missense variant	-	NC_000019.10:g.42352998T>C	gnomAD
rs368693886	p.Ser1143Leu	missense variant	-	NC_000019.10:g.42353005C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1289426983	p.Ser1143Pro	missense variant	-	NC_000019.10:g.42353004T>C	TOPMed,gnomAD
rs573143647	p.Asp1144Ala	missense variant	-	NC_000019.10:g.42353008A>C	1000Genomes
rs1370955813	p.Pro1146Ser	missense variant	-	NC_000019.10:g.42353013C>T	gnomAD
rs1213406465	p.Thr1149Ile	missense variant	-	NC_000019.10:g.42353023C>T	gnomAD
rs1015534225	p.Pro1150Arg	missense variant	-	NC_000019.10:g.42353026C>G	TOPMed,gnomAD
rs1015534225	p.Pro1150His	missense variant	-	NC_000019.10:g.42353026C>A	TOPMed,gnomAD
rs373631162	p.Ala1151Thr	missense variant	-	NC_000019.10:g.42353028G>A	ESP,ExAC,TOPMed,gnomAD
rs373631162	p.Ala1151Ser	missense variant	-	NC_000019.10:g.42353028G>T	ESP,ExAC,TOPMed,gnomAD
rs367649187	p.Pro1152Leu	missense variant	-	NC_000019.10:g.42353032C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1178701470	p.Gly1153Val	missense variant	-	NC_000019.10:g.42353035G>T	gnomAD
rs989766997	p.Gly1153Ser	missense variant	-	NC_000019.10:g.42353034G>A	TOPMed,gnomAD
rs562936594	p.Pro1154Leu	missense variant	-	NC_000019.10:g.42353038C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs748528692	p.Pro1154Ser	missense variant	-	NC_000019.10:g.42353037C>T	ExAC
rs1167359530	p.Ala1156Thr	missense variant	-	NC_000019.10:g.42353043G>A	gnomAD
rs978921703	p.Pro1157Ser	missense variant	-	NC_000019.10:g.42353046C>T	TOPMed
rs977777127	p.Arg1158Ser	missense variant	-	NC_000019.10:g.42353049C>A	TOPMed,gnomAD
rs745476792	p.Arg1158His	missense variant	-	NC_000019.10:g.42353050G>A	ExAC,TOPMed,gnomAD
rs977777127	p.Arg1158Cys	missense variant	-	NC_000019.10:g.42353049C>T	TOPMed,gnomAD
rs533343939	p.Arg1161Gln	missense variant	-	NC_000019.10:g.42353059G>A	1000Genomes
rs771818419	p.Arg1161Trp	missense variant	-	NC_000019.10:g.42353058C>T	ExAC,TOPMed,gnomAD
rs1429438883	p.Asp1162Asn	missense variant	-	NC_000019.10:g.42353061G>A	gnomAD
rs545368166	p.Gly1164Val	missense variant	-	NC_000019.10:g.42353068G>T	1000Genomes,ExAC,gnomAD
rs1053294480	p.Ser1166Asn	missense variant	-	NC_000019.10:g.42353074G>A	TOPMed,gnomAD
rs746512440	p.His1168Pro	missense variant	-	NC_000019.10:g.42353080A>C	ExAC,gnomAD
rs1272083592	p.Ser1169Asn	missense variant	-	NC_000019.10:g.42353083G>A	gnomAD
rs1405403853	p.Arg1172His	missense variant	-	NC_000019.10:g.42353092G>A	TOPMed,gnomAD
rs376582167	p.Arg1172Gly	missense variant	-	NC_000019.10:g.42353091C>G	TOPMed,gnomAD
rs376582167	p.Arg1172Cys	missense variant	-	NC_000019.10:g.42353091C>T	TOPMed,gnomAD
rs892173452	p.Arg1174Trp	missense variant	-	NC_000019.10:g.42353097C>T	TOPMed,gnomAD
rs1446337126	p.Arg1174Gln	missense variant	-	NC_000019.10:g.42353098G>A	gnomAD
rs1322352097	p.Gly1175Ser	missense variant	-	NC_000019.10:g.42353100G>A	gnomAD
rs1458384742	p.Cys1179Arg	missense variant	-	NC_000019.10:g.42353112T>C	TOPMed
rs1242769574	p.Asp1180Asn	missense variant	-	NC_000019.10:g.42353115G>A	gnomAD
rs185009718	p.Glu1181Lys	missense variant	-	NC_000019.10:g.42353118G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1417337281	p.Gln1183His	missense variant	-	NC_000019.10:g.42353126G>C	gnomAD
rs1462322609	p.Asp1184His	missense variant	-	NC_000019.10:g.42353127G>C	gnomAD
rs753199102	p.Trp1187Ter	stop gained	-	NC_000019.10:g.42353474G>A	ExAC,gnomAD
rs753199102	p.Trp1187Ser	missense variant	-	NC_000019.10:g.42353474G>C	ExAC,gnomAD
rs756577669	p.Gly1188Trp	missense variant	-	NC_000019.10:g.42353476G>T	ExAC,gnomAD
rs1326671024	p.Glu1189Ter	stop gained	-	NC_000019.10:g.42353479G>T	gnomAD
COSM4701669	p.Glu1189SerPheSerTerUnkUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000019.10:g.42353474G>-	NCI-TCGA Cosmic
rs778320987	p.His1190Asp	missense variant	-	NC_000019.10:g.42353482C>G	ExAC,gnomAD
rs1311411371	p.Glu1192Lys	missense variant	-	NC_000019.10:g.42353488G>A	TOPMed,gnomAD
rs1311411371	p.Glu1192Ter	stop gained	-	NC_000019.10:g.42353488G>T	TOPMed,gnomAD
rs1311411371	p.Glu1192Gln	missense variant	-	NC_000019.10:g.42353488G>C	TOPMed,gnomAD
rs758179285	p.Arg1193Gly	missense variant	-	NC_000019.10:g.42353491C>G	ExAC,TOPMed
rs1345582285	p.Arg1193Gln	missense variant	-	NC_000019.10:g.42353492G>A	gnomAD
NCI-TCGA novel	p.Arg1195Trp	missense variant	-	NC_000019.10:g.42353497C>T	NCI-TCGA
rs779749950	p.Arg1195Gln	missense variant	-	NC_000019.10:g.42353498G>A	ExAC,gnomAD
rs904943760	p.Pro1196Leu	missense variant	-	NC_000019.10:g.42353501C>T	TOPMed,gnomAD
rs139332716	p.Gly1197Cys	missense variant	-	NC_000019.10:g.42353503G>T	ESP,ExAC,TOPMed,gnomAD
rs139332716	p.Gly1197Ser	missense variant	-	NC_000019.10:g.42353503G>A	ESP,ExAC,TOPMed,gnomAD
rs534194675	p.Ser1198Arg	missense variant	-	NC_000019.10:g.42353506A>C	1000Genomes,ExAC,gnomAD
rs748082298	p.Phe1199Cys	missense variant	-	NC_000019.10:g.42353510T>G	ExAC,gnomAD
rs369401044	p.Gly1200Asp	missense variant	-	NC_000019.10:g.42353513G>A	ESP,ExAC,gnomAD
rs374935528	p.Gly1200Ser	missense variant	-	NC_000019.10:g.42353512G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs374935528	p.Gly1200Arg	missense variant	-	NC_000019.10:g.42353512G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1207292619	p.Ala1202Gly	missense variant	-	NC_000019.10:g.42353519C>G	gnomAD
rs1467075082	p.Ala1202Thr	missense variant	-	NC_000019.10:g.42353518G>A	gnomAD
rs1165792331	p.Thr1203Ile	missense variant	-	NC_000019.10:g.42353522C>T	gnomAD
rs1475100084	p.Gly1204Ser	missense variant	-	NC_000019.10:g.42353524G>A	TOPMed
rs1391781625	p.Ser1205Cys	missense variant	-	NC_000019.10:g.42353528C>G	gnomAD
rs1333090616	p.Gly1207Asp	missense variant	-	NC_000019.10:g.42353534G>A	gnomAD
rs556378666	p.Arg1209Gln	missense variant	-	NC_000019.10:g.42353540G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs372257661	p.Arg1209Trp	missense variant	-	NC_000019.10:g.42353539C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs761313195	p.Pro1210His	missense variant	-	NC_000019.10:g.42353543C>A	ExAC,TOPMed,gnomAD
rs372294386	p.Gln1212Arg	missense variant	-	NC_000019.10:g.42353549A>G	ESP
rs754316452	p.Asn1214Lys	missense variant	-	NC_000019.10:g.42353556C>A	ExAC,TOPMed,gnomAD
rs764681351	p.Asn1214Ser	missense variant	-	NC_000019.10:g.42353555A>G	ExAC,gnomAD
rs149613080	p.Gly1215Trp	missense variant	-	NC_000019.10:g.42353557G>T	ESP,ExAC,TOPMed,gnomAD
rs149613080	p.Gly1215Arg	missense variant	-	NC_000019.10:g.42353557G>A	ESP,ExAC,TOPMed,gnomAD
rs1467568260	p.His1216Asn	missense variant	-	NC_000019.10:g.42353560C>A	gnomAD
rs751177819	p.Gly1217Arg	missense variant	-	NC_000019.10:g.42353563G>A	ExAC,gnomAD
rs754481112	p.Pro1219Gln	missense variant	-	NC_000019.10:g.42353570C>A	ExAC,TOPMed
rs1190335874	p.Arg1220His	missense variant	-	NC_000019.10:g.42353573G>A	gnomAD
rs762398666	p.Arg1220Cys	missense variant	-	NC_000019.10:g.42353572C>T	ExAC,TOPMed,gnomAD
rs747638869	p.Arg1221Cys	missense variant	-	NC_000019.10:g.42353575C>T	ExAC,TOPMed,gnomAD
rs375618779	p.Arg1221His	missense variant	-	NC_000019.10:g.42353576G>A	ESP,ExAC,TOPMed,gnomAD
rs749087436	p.His1223Tyr	missense variant	-	NC_000019.10:g.42353581C>T	ExAC,gnomAD
rs965163145	p.Asp1225Asn	missense variant	-	NC_000019.10:g.42353587G>A	TOPMed,gnomAD
rs1369586569	p.Asn1226Ser	missense variant	-	NC_000019.10:g.42353591A>G	gnomAD
NCI-TCGA novel	p.Ser1228Gly	missense variant	-	NC_000019.10:g.42353596A>G	NCI-TCGA
rs374413723	p.Ser1228Asn	missense variant	-	NC_000019.10:g.42353597G>A	ESP,ExAC,TOPMed,gnomAD
rs1160525072	p.Ser1228Arg	missense variant	-	NC_000019.10:g.42353598T>G	TOPMed
rs374413723	p.Ser1228Ile	missense variant	-	NC_000019.10:g.42353597G>T	ESP,ExAC,TOPMed,gnomAD
rs1293486177	p.Gly1229Glu	missense variant	-	NC_000019.10:g.42353600G>A	gnomAD
NCI-TCGA novel	p.Leu1230Phe	missense variant	-	NC_000019.10:g.42353602C>T	NCI-TCGA
rs1219460439	p.Gln1234Ter	stop gained	-	NC_000019.10:g.42353614C>T	TOPMed,gnomAD
rs1260171890	p.Gln1234Leu	missense variant	-	NC_000019.10:g.42353615A>T	gnomAD
rs1219460439	p.Gln1234Glu	missense variant	-	NC_000019.10:g.42353614C>G	TOPMed,gnomAD
rs1213411204	p.His1236Tyr	missense variant	-	NC_000019.10:g.42353620C>T	gnomAD
rs377750684	p.Glu1238Lys	missense variant	-	NC_000019.10:g.42353626G>A	ESP,ExAC,gnomAD
rs1428533498	p.Ala1240Val	missense variant	-	NC_000019.10:g.42353633C>T	gnomAD
rs1260427441	p.Ala1240Ser	missense variant	-	NC_000019.10:g.42353632G>T	gnomAD
rs1195405728	p.His1241Tyr	missense variant	-	NC_000019.10:g.42353635C>T	gnomAD
rs1415158424	p.Cys1242Arg	missense variant	-	NC_000019.10:g.42353638T>C	gnomAD
rs1451543200	p.Cys1245Tyr	missense variant	-	NC_000019.10:g.42353648G>A	gnomAD
rs764699934	p.Pro1247Thr	missense variant	-	NC_000019.10:g.42353653C>A	ExAC,TOPMed,gnomAD
rs1000326602	p.Gly1248Ser	missense variant	-	NC_000019.10:g.42353656G>A	TOPMed
rs777218164	p.Gly1251Glu	missense variant	-	NC_000019.10:g.42353666G>A	ExAC,gnomAD
rs578098855	p.Asp1252Tyr	missense variant	-	NC_000019.10:g.42353668G>T	1000Genomes,ExAC,gnomAD
rs578098855	p.Asp1252Asn	missense variant	-	NC_000019.10:g.42353668G>A	1000Genomes,ExAC,gnomAD
rs1209269226	p.Pro1253Thr	missense variant	-	NC_000019.10:g.42353671C>A	TOPMed
rs200195292	p.Arg1254Trp	missense variant	-	NC_000019.10:g.42353674C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1233110690	p.Arg1254Gln	missense variant	-	NC_000019.10:g.42353675G>A	gnomAD
COSM3534755	p.Ala1255Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42353777C>T	NCI-TCGA Cosmic
rs753322711	p.Gly1256Asp	missense variant	-	NC_000019.10:g.42353780G>A	ExAC,TOPMed,gnomAD
rs763633644	p.Gly1256Ser	missense variant	-	NC_000019.10:g.42353779G>A	ExAC,TOPMed,gnomAD
rs1008783042	p.Arg1261Trp	missense variant	-	NC_000019.10:g.42353794C>T	TOPMed,gnomAD
rs778710515	p.Arg1261Gln	missense variant	-	NC_000019.10:g.42353795G>A	ExAC,TOPMed,gnomAD
rs1346522682	p.Arg1266His	missense variant	-	NC_000019.10:g.42353810G>A	gnomAD
rs750730059	p.Arg1266Cys	missense variant	-	NC_000019.10:g.42353809C>T	gnomAD
rs758067731	p.Ala1267Thr	missense variant	-	NC_000019.10:g.42353812G>A	ExAC,gnomAD
rs1258459037	p.Thr1270Asn	missense variant	-	NC_000019.10:g.42353822C>A	gnomAD
rs747196729	p.Thr1270Ser	missense variant	-	NC_000019.10:g.42353821A>T	ExAC,TOPMed,gnomAD
rs781474959	p.Asn1271Ser	missense variant	-	NC_000019.10:g.42353825A>G	ExAC,gnomAD
rs770399527	p.Val1272Leu	missense variant	-	NC_000019.10:g.42353827G>T	ExAC,gnomAD
rs770399527	p.Val1272Met	missense variant	-	NC_000019.10:g.42353827G>A	ExAC,gnomAD
rs1422511596	p.Val1275Met	missense variant	-	NC_000019.10:g.42353836G>A	TOPMed
NCI-TCGA novel	p.Gly1278Asp	missense variant	-	NC_000019.10:g.42353846G>A	NCI-TCGA
rs771238352	p.Arg1280Cys	missense variant	-	NC_000019.10:g.42353851C>T	ExAC,TOPMed,gnomAD
rs368787343	p.Arg1280His	missense variant	-	NC_000019.10:g.42353852G>A	ESP,ExAC,TOPMed,gnomAD
rs374189635	p.Arg1281Gln	missense variant	-	NC_000019.10:g.42353855G>A	ExAC,gnomAD
rs371283114	p.Arg1281Trp	missense variant	-	NC_000019.10:g.42353854C>T	ESP,ExAC,TOPMed,gnomAD
rs761157640	p.Val1282Ala	missense variant	-	NC_000019.10:g.42353858T>C	ExAC,gnomAD
rs750275998	p.Gly1283Arg	missense variant	-	NC_000019.10:g.42353860G>A	ExAC,TOPMed,gnomAD
COSM6028206	p.Leu1285CysPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000019.10:g.42353860G>-	NCI-TCGA Cosmic
rs1213610975	p.Leu1285Gln	missense variant	-	NC_000019.10:g.42353867T>A	gnomAD
rs758241653	p.Pro1287Ser	missense variant	-	NC_000019.10:g.42353872C>T	ExAC,gnomAD
NCI-TCGA novel	p.Pro1288Ser	missense variant	-	NC_000019.10:g.42353875C>T	NCI-TCGA
NCI-TCGA novel	p.Pro1288Leu	missense variant	-	NC_000019.10:g.42353876C>T	NCI-TCGA
rs780037599	p.Gly1289Val	missense variant	-	NC_000019.10:g.42353879G>T	ExAC,gnomAD
rs755312971	p.Gly1291Arg	missense variant	-	NC_000019.10:g.42353884G>A	ExAC,TOPMed,gnomAD
rs866861157	p.Gly1291Glu	missense variant	-	NC_000019.10:g.42353885G>A	TOPMed,gnomAD
rs755312971	p.Gly1291Trp	missense variant	-	NC_000019.10:g.42353884G>T	ExAC,TOPMed,gnomAD
rs1347202322	p.Ala1292Val	missense variant	-	NC_000019.10:g.42353888C>T	gnomAD
rs1474436698	p.Ala1295Thr	missense variant	-	NC_000019.10:g.42353896G>A	gnomAD
rs546120448	p.Gly1296Arg	missense variant	-	NC_000019.10:g.42353899G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs546120448	p.Gly1296Trp	missense variant	-	NC_000019.10:g.42353899G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs367923884	p.Gly1296Glu	missense variant	-	NC_000019.10:g.42353900G>A	ESP,ExAC,TOPMed,gnomAD
rs546120448	p.Gly1296Arg	missense variant	-	NC_000019.10:g.42353899G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs771404217	p.Gly1298Val	missense variant	-	NC_000019.10:g.42353906G>T	ExAC,TOPMed,gnomAD
rs771404217	p.Gly1298Asp	missense variant	-	NC_000019.10:g.42353906G>A	ExAC,TOPMed,gnomAD
rs920359314	p.Leu1299Met	missense variant	-	NC_000019.10:g.42353908C>A	TOPMed,gnomAD
rs1406454001	p.Ser1300Phe	missense variant	-	NC_000019.10:g.42353912C>T	gnomAD
rs1429332615	p.Trp1304Gly	missense variant	-	NC_000019.10:g.42353923T>G	gnomAD
COSM1394136	p.Trp1304Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42353925G>T	NCI-TCGA Cosmic
rs768302132	p.Ser1307Leu	missense variant	-	NC_000019.10:g.42353933C>T	ExAC,gnomAD
rs776085762	p.Ala1308Thr	missense variant	-	NC_000019.10:g.42353935G>A	ExAC,gnomAD
rs761406257	p.Glu1311Lys	missense variant	-	NC_000019.10:g.42353944G>A	ExAC,TOPMed,gnomAD
rs761406257	p.Glu1311Ter	stop gained	-	NC_000019.10:g.42353944G>T	ExAC,TOPMed,gnomAD
rs1226175857	p.Gln1313Ter	stop gained	-	NC_000019.10:g.42353950C>T	TOPMed,gnomAD
rs764610687	p.Pro1314Leu	missense variant	-	NC_000019.10:g.42353954C>T	ExAC,gnomAD
rs1445386229	p.Cys1315Tyr	missense variant	-	NC_000019.10:g.42353957G>A	gnomAD
rs1215918793	p.Ala1316Val	missense variant	-	NC_000019.10:g.42353960C>T	gnomAD
rs749921436	p.Pro1317Ser	missense variant	-	NC_000019.10:g.42353962C>T	ExAC,gnomAD
rs749921436	p.Pro1317Ala	missense variant	-	NC_000019.10:g.42353962C>G	ExAC,gnomAD
rs766409677	p.Gly1318Trp	missense variant	-	NC_000019.10:g.42353965G>T	ExAC,TOPMed,gnomAD
rs766409677	p.Gly1318Arg	missense variant	-	NC_000019.10:g.42353965G>A	ExAC,TOPMed,gnomAD
rs531381174	p.Thr1319Ala	missense variant	-	NC_000019.10:g.42353968A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1165513049	p.Leu1320Phe	missense variant	-	NC_000019.10:g.42353971C>T	TOPMed,gnomAD
rs1165513049	p.Leu1320Ile	missense variant	-	NC_000019.10:g.42353971C>A	TOPMed,gnomAD
rs767867271	p.Pro1322Ser	missense variant	-	NC_000019.10:g.42353977C>T	ExAC,TOPMed,gnomAD
rs189681080	p.Pro1323Arg	missense variant	-	NC_000019.10:g.42353981C>G	1000Genomes,TOPMed,gnomAD
rs866196214	p.Pro1323Ala	missense variant	-	NC_000019.10:g.42353980C>G	gnomAD
rs189681080	p.Pro1323Gln	missense variant	-	NC_000019.10:g.42353981C>A	1000Genomes,TOPMed,gnomAD
rs866196214	p.Pro1323Thr	missense variant	-	NC_000019.10:g.42353980C>A	gnomAD
rs571020930	p.Thr1325Ile	missense variant	-	NC_000019.10:g.42353987C>T	1000Genomes,ExAC,gnomAD
rs1395077400	p.Leu1326Phe	missense variant	-	NC_000019.10:g.42353989C>T	TOPMed
rs1349836953	p.Phe1328Leu	missense variant	-	NC_000019.10:g.42353995T>C	TOPMed,gnomAD
rs749373272	p.Phe1328Leu	missense variant	-	NC_000019.10:g.42353997C>G	ExAC,gnomAD
rs753417146	p.Ser1329Phe	missense variant	-	NC_000019.10:g.42353999C>T	ExAC,gnomAD
rs753417146	p.Ser1329Tyr	missense variant	-	NC_000019.10:g.42353999C>A	ExAC,gnomAD
rs1209012733	p.Pro1330Ser	missense variant	-	NC_000019.10:g.42354001C>T	gnomAD
NCI-TCGA novel	p.Asp1331ThrPheSerTerUnk	frameshift	-	NC_000019.10:g.42353999C>-	NCI-TCGA
rs1443383922	p.Asp1331Asn	missense variant	-	NC_000019.10:g.42354004G>A	TOPMed,gnomAD
rs1190024956	p.Ser1332Ile	missense variant	-	NC_000019.10:g.42354008G>T	gnomAD
rs1231713576	p.Ser1333Arg	missense variant	-	NC_000019.10:g.42354010A>C	gnomAD
NCI-TCGA novel	p.Thr1334ProPheSerTerUnk	frameshift	-	NC_000019.10:g.42354013A>-	NCI-TCGA
rs1158787375	p.Thr1334Ile	missense variant	-	NC_000019.10:g.42354014C>T	gnomAD
rs1381641420	p.Pro1335Ser	missense variant	-	NC_000019.10:g.42354016C>T	gnomAD
rs1387335660	p.Thr1337Met	missense variant	-	NC_000019.10:g.42354023C>T	TOPMed
COSM439659	p.Thr1337Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42354022A>G	NCI-TCGA Cosmic
rs1378735472	p.Leu1338Val	missense variant	-	NC_000019.10:g.42354588C>G	gnomAD
rs1331958384	p.Ser1339Cys	missense variant	-	NC_000019.10:g.42354591A>T	gnomAD
rs1161252837	p.Tyr1340Cys	missense variant	-	NC_000019.10:g.42354595A>G	TOPMed
rs549875912	p.Val1341Leu	missense variant	-	NC_000019.10:g.42354597G>C	ExAC,TOPMed,gnomAD
rs549875912	p.Val1341Ile	missense variant	-	NC_000019.10:g.42354597G>A	ExAC,TOPMed,gnomAD
rs746330794	p.Ala1343Val	missense variant	-	NC_000019.10:g.42354604C>T	ExAC,TOPMed,gnomAD
rs1317727310	p.Ala1343Ser	missense variant	-	NC_000019.10:g.42354603G>T	gnomAD
rs1467499790	p.Phe1344Val	missense variant	-	NC_000019.10:g.42354606T>G	gnomAD
rs368468093	p.Arg1349Cys	missense variant	-	NC_000019.10:g.42354621C>T	ESP,ExAC,TOPMed,gnomAD
rs772858157	p.Arg1349His	missense variant	-	NC_000019.10:g.42354622G>A	ExAC,TOPMed,gnomAD
rs201209045	p.Phe1350Leu	missense variant	-	NC_000019.10:g.42354624T>C	1000Genomes,gnomAD
rs1319965734	p.Thr1353Ala	missense variant	-	NC_000019.10:g.42354633A>G	gnomAD
rs1293983151	p.Gly1354Asp	missense variant	-	NC_000019.10:g.42354637G>A	gnomAD
rs774462945	p.Gly1354Ser	missense variant	-	NC_000019.10:g.42354636G>A	ExAC,gnomAD
rs3745234	p.Val1355Ile	missense variant	-	NC_000019.10:g.42354639G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1296610457	p.Val1356Ile	missense variant	-	NC_000019.10:g.42354642G>A	gnomAD
rs1360457015	p.Gln1357Arg	missense variant	-	NC_000019.10:g.42354646A>G	TOPMed
rs760451604	p.Ser1358Leu	missense variant	-	NC_000019.10:g.42354649C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp1359Glu	missense variant	-	NC_000019.10:g.42354653C>G	NCI-TCGA
rs761908769	p.Arg1360His	missense variant	-	NC_000019.10:g.42354655G>A	ExAC,TOPMed,gnomAD
rs754006123	p.Arg1360Cys	missense variant	-	NC_000019.10:g.42354654C>T	ExAC,TOPMed,gnomAD
rs1266478937	p.Ser1361Arg	missense variant	-	NC_000019.10:g.42354659C>A	gnomAD
rs765337936	p.Ile1363Thr	missense variant	-	NC_000019.10:g.42354664T>C	ExAC,gnomAD
rs1213761681	p.Phe1366Leu	missense variant	-	NC_000019.10:g.42354672T>C	gnomAD
rs758888823	p.Gly1368Ser	missense variant	-	NC_000019.10:g.42354678G>A	ExAC,TOPMed,gnomAD
rs1195649417	p.Arg1370Ter	stop gained	-	NC_000019.10:g.42354684C>T	gnomAD
rs780609454	p.Arg1371Trp	missense variant	-	NC_000019.10:g.42354687C>T	ExAC,TOPMed,gnomAD
rs1426087562	p.Arg1373Gly	missense variant	-	NC_000019.10:g.42354693A>G	TOPMed
rs1422960899	p.Pro1374Ser	missense variant	-	NC_000019.10:g.42354696C>T	gnomAD
rs755317091	p.Thr1376Ala	missense variant	-	NC_000019.10:g.42354702A>G	ExAC,gnomAD
rs373459551	p.Val1377Ile	missense variant	-	NC_000019.10:g.42354705G>A	ESP,ExAC,TOPMed,gnomAD
rs1330760867	p.Val1377Asp	missense variant	-	NC_000019.10:g.42354706T>A	gnomAD
rs1156901466	p.Ala1379Val	missense variant	-	NC_000019.10:g.42354712C>T	gnomAD
rs1210632145	p.Gly1382Glu	missense variant	-	NC_000019.10:g.42355758G>A	gnomAD
NCI-TCGA novel	p.Leu1384Phe	missense variant	-	NC_000019.10:g.42355763C>T	NCI-TCGA
rs369352974	p.Val1385Met	missense variant	-	NC_000019.10:g.42355766G>A	ESP,ExAC,TOPMed,gnomAD
rs369352974	p.Val1385Leu	missense variant	-	NC_000019.10:g.42355766G>T	ESP,ExAC,TOPMed,gnomAD
rs1238674675	p.His1387Tyr	missense variant	-	NC_000019.10:g.42355772C>T	gnomAD
rs1423373116	p.Ala1390Thr	missense variant	-	NC_000019.10:g.42355781G>A	gnomAD
rs745383186	p.Gly1392Asp	missense variant	-	NC_000019.10:g.42355788G>A	ExAC,gnomAD
rs778640003	p.Gly1392Ser	missense variant	-	NC_000019.10:g.42355787G>A	ExAC,gnomAD
rs1464353358	p.Ser1393Phe	missense variant	-	NC_000019.10:g.42355791C>T	gnomAD
rs1331281435	p.Ser1394Leu	missense variant	-	NC_000019.10:g.42355794C>T	gnomAD
RCV000692193	p.Ser1395Phe	missense variant	Carpenter syndrome 2 (CRPT2)	NC_000019.10:g.42355797C>T	ClinVar
rs779883123	p.Gly1397Ser	missense variant	-	NC_000019.10:g.42355802G>A	ExAC,gnomAD
rs1272565135	p.Phe1398Val	missense variant	-	NC_000019.10:g.42355805T>G	gnomAD
rs536724995	p.Asn1399Ser	missense variant	-	NC_000019.10:g.42355809A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1408100730	p.Ser1401Thr	missense variant	-	NC_000019.10:g.42355814T>A	TOPMed
rs768453015	p.Ser1401Leu	missense variant	-	NC_000019.10:g.42355815C>T	ExAC,TOPMed,gnomAD
rs770011525	p.Gly1403Val	missense variant	-	NC_000019.10:g.42355821G>T	ExAC,TOPMed,gnomAD
rs770011525	p.Gly1403Ala	missense variant	-	NC_000019.10:g.42355821G>C	ExAC,TOPMed,gnomAD
COSM1394145	p.Ala1405Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42355826G>A	NCI-TCGA Cosmic
rs762968675	p.Arg1406Cys	missense variant	-	NC_000019.10:g.42355829C>T	ExAC,gnomAD
rs1431656000	p.Arg1406His	missense variant	-	NC_000019.10:g.42355830G>A	gnomAD
rs1477073032	p.Gly1408Glu	missense variant	-	NC_000019.10:g.42355836G>A	gnomAD
COSM997384	p.Gly1408Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42355836G>T	NCI-TCGA Cosmic
rs766442833	p.Gly1411Val	missense variant	-	NC_000019.10:g.42355845G>T	ExAC,gnomAD
rs766442833	p.Gly1411Asp	missense variant	-	NC_000019.10:g.42355845G>A	ExAC,gnomAD
rs760139304	p.Pro1412Ser	missense variant	-	NC_000019.10:g.42355847C>T	ExAC,TOPMed,gnomAD
rs760139304	p.Pro1412Thr	missense variant	-	NC_000019.10:g.42355847C>A	ExAC,TOPMed,gnomAD
rs768127043	p.Gly1413Arg	missense variant	-	NC_000019.10:g.42355850G>A	ExAC,gnomAD
rs1274301192	p.Ser1414Ile	missense variant	-	NC_000019.10:g.42355854G>T	TOPMed
rs1337933774	p.Pro1416Leu	missense variant	-	NC_000019.10:g.42355860C>T	gnomAD
rs1294951827	p.Pro1416Ser	missense variant	-	NC_000019.10:g.42355859C>T	gnomAD
NCI-TCGA novel	p.Val1417Ala	missense variant	-	NC_000019.10:g.42355863T>C	NCI-TCGA
rs756485611	p.Val1417Ile	missense variant	-	NC_000019.10:g.42355862G>A	ExAC,TOPMed,gnomAD
rs756485611	p.Val1417Phe	missense variant	-	NC_000019.10:g.42355862G>T	ExAC,TOPMed,gnomAD
rs1319992918	p.Glu1420Ter	stop gained	-	NC_000019.10:g.42355871G>T	gnomAD
rs148217267	p.Glu1420Ala	missense variant	-	NC_000019.10:g.42355872A>C	ESP,TOPMed,gnomAD
rs141221243	p.Val1422Met	missense variant	-	NC_000019.10:g.42355877G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1271370064	p.Pro1423Leu	missense variant	-	NC_000019.10:g.42355881C>T	gnomAD
rs757955337	p.Asp1425Gly	missense variant	-	NC_000019.10:g.42355887A>G	ExAC,gnomAD
rs754972626	p.Gly1426Ala	missense variant	-	NC_000019.10:g.42355890G>C	ExAC
rs746486631	p.Gly1426Ser	missense variant	-	NC_000019.10:g.42355889G>A	ExAC,TOPMed,gnomAD
rs781043047	p.Ala1428Val	missense variant	-	NC_000019.10:g.42355896C>T	ExAC,TOPMed,gnomAD
rs781043047	p.Ala1428Gly	missense variant	-	NC_000019.10:g.42355896C>G	ExAC,TOPMed,gnomAD
rs747951716	p.Gly1429Val	missense variant	-	NC_000019.10:g.42355899G>T	ExAC,gnomAD
rs777183202	p.Ala1430Val	missense variant	-	NC_000019.10:g.42355902C>T	ExAC,TOPMed,gnomAD
rs1433947083	p.Leu1432Phe	missense variant	-	NC_000019.10:g.42355907C>T	TOPMed
rs150661961	p.Cys1433Tyr	missense variant	-	NC_000019.10:g.42355911G>A	ESP,ExAC,TOPMed,gnomAD
rs1035497941	p.Arg1434Ter	stop gained	-	NC_000019.10:g.42355913C>T	TOPMed,gnomAD
rs774551623	p.Arg1434Gln	missense variant	-	NC_000019.10:g.42355914G>A	ExAC,TOPMed,gnomAD
rs759465531	p.Cys1435Arg	missense variant	-	NC_000019.10:g.42355916T>C	ExAC,TOPMed,gnomAD
rs1283573671	p.Gln1437Pro	missense variant	-	NC_000019.10:g.42355923A>C	gnomAD
rs1356921876	p.Gly1438Ser	missense variant	-	NC_000019.10:g.42355925G>A	gnomAD
RCV000528202	p.Gly1441Asp	missense variant	Carpenter syndrome 2 (CRPT2)	NC_000019.10:g.42355935G>A	ClinVar
rs1229026252	p.Gly1441Asp	missense variant	-	NC_000019.10:g.42355935G>A	TOPMed,gnomAD
rs1351522248	p.Pro1442Ser	missense variant	-	NC_000019.10:g.42355937C>T	gnomAD
rs1224531592	p.Pro1442Leu	missense variant	-	NC_000019.10:g.42355938C>T	TOPMed
rs768149358	p.His1443Pro	missense variant	-	NC_000019.10:g.42355941A>C	ExAC,TOPMed,gnomAD
rs768149358	p.His1443Arg	missense variant	-	NC_000019.10:g.42355941A>G	ExAC,TOPMed,gnomAD
rs776088296	p.Cys1444Phe	missense variant	-	NC_000019.10:g.42355944G>T	ExAC,gnomAD
rs138904325	p.Arg1445Leu	missense variant	-	NC_000019.10:g.42355947G>T	ESP,TOPMed,gnomAD
rs138904325	p.Arg1445His	missense variant	-	NC_000019.10:g.42355947G>A	ESP,TOPMed,gnomAD
rs374942873	p.Arg1445Cys	missense variant	-	NC_000019.10:g.42355946C>T	ExAC,TOPMed,gnomAD
rs539733408	p.Met1446Val	missense variant	-	NC_000019.10:g.42355949A>G	ExAC,gnomAD
rs758127113	p.Leu1448Val	missense variant	-	NC_000019.10:g.42355955C>G	ExAC,gnomAD
rs1418518075	p.Glu1451Lys	missense variant	-	NC_000019.10:g.42355964G>A	gnomAD
rs1412584261	p.Asn1454Ser	missense variant	-	NC_000019.10:g.42355974A>G	TOPMed,gnomAD
rs1386652923	p.Asn1454Asp	missense variant	-	NC_000019.10:g.42355973A>G	gnomAD
rs754429015	p.Thr1457Ile	missense variant	-	NC_000019.10:g.42355983C>T	ExAC,TOPMed,gnomAD
rs1341047940	p.Gly1458Arg	missense variant	-	NC_000019.10:g.42355985G>A	gnomAD
rs781130941	p.Gly1458Val	missense variant	-	NC_000019.10:g.42355986G>T	ExAC,TOPMed,gnomAD
rs781130941	p.Gly1458Glu	missense variant	-	NC_000019.10:g.42355986G>A	ExAC,TOPMed,gnomAD
rs1466343768	p.Thr1461Ile	missense variant	-	NC_000019.10:g.42355995C>T	TOPMed
rs748037792	p.Asn1463Tyr	missense variant	-	NC_000019.10:g.42356000A>T	ExAC,gnomAD
rs1256757653	p.Ser1465Thr	missense variant	-	NC_000019.10:g.42356084G>C	gnomAD
NCI-TCGA novel	p.Leu1466Met	missense variant	-	NC_000019.10:g.42356086C>A	NCI-TCGA
rs1457706665	p.Leu1466Arg	missense variant	-	NC_000019.10:g.42356087T>G	gnomAD
rs1252062676	p.Gly1467Ala	missense variant	-	NC_000019.10:g.42356090G>C	gnomAD
rs1252062676	p.Gly1467Val	missense variant	-	NC_000019.10:g.42356090G>T	gnomAD
rs1377797814	p.Cys1469Tyr	missense variant	-	NC_000019.10:g.42356096G>A	gnomAD
rs1481325191	p.Ile1470Leu	missense variant	-	NC_000019.10:g.42356098A>C	gnomAD
rs1168236129	p.Ala1472Thr	missense variant	-	NC_000019.10:g.42356104G>A	gnomAD
rs147539384	p.Ala1472Val	missense variant	-	NC_000019.10:g.42356105C>T	ESP,TOPMed,gnomAD
rs746128972	p.Glu1473Lys	missense variant	-	NC_000019.10:g.42356107G>A	ExAC,TOPMed,gnomAD
rs1355415184	p.Glu1473Gly	missense variant	-	NC_000019.10:g.42356108A>G	TOPMed
rs772400231	p.Gly1474Ser	missense variant	-	NC_000019.10:g.42356110G>A	ExAC,TOPMed,gnomAD
rs1385102968	p.Gly1474Asp	missense variant	-	NC_000019.10:g.42356111G>A	gnomAD
rs747079911	p.Gly1476Trp	missense variant	-	NC_000019.10:g.42356116G>T	ExAC,TOPMed,gnomAD
rs747079911	p.Gly1476Arg	missense variant	-	NC_000019.10:g.42356116G>A	ExAC,TOPMed,gnomAD
rs865956745	p.Gly1477Asp	missense variant	-	NC_000019.10:g.42356120G>A	gnomAD
rs776947766	p.Asp1479Asn	missense variant	-	NC_000019.10:g.42356125G>A	ExAC,TOPMed,gnomAD
rs770016000	p.Cys1480Tyr	missense variant	-	NC_000019.10:g.42356129G>A	ExAC,gnomAD
rs781123189	p.Ala1481Thr	missense variant	-	NC_000019.10:g.42356131G>A	ExAC,gnomAD
rs1262221754	p.Lys1483Asn	missense variant	-	NC_000019.10:g.42356139G>C	gnomAD
rs752273945	p.Lys1483Thr	missense variant	-	NC_000019.10:g.42356138A>C	ExAC
rs1191309745	p.Lys1483Glu	missense variant	-	NC_000019.10:g.42356137A>G	gnomAD
rs752273945	p.Lys1483Met	missense variant	-	NC_000019.10:g.42356138A>T	ExAC
rs1477987209	p.Leu1484Val	missense variant	-	NC_000019.10:g.42356140C>G	gnomAD
rs1172486350	p.Asp1485Gly	missense variant	-	NC_000019.10:g.42356144A>G	gnomAD
rs764112268	p.Gly1487Arg	missense variant	-	NC_000019.10:g.42356149G>A	ExAC,TOPMed,gnomAD
rs1442834841	p.Gln1488His	missense variant	-	NC_000019.10:g.42356154G>C	TOPMed
COSM474809	p.Val1490Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42356158G>T	NCI-TCGA Cosmic
rs750229800	p.Trp1491Ser	missense variant	-	NC_000019.10:g.42356162G>C	ExAC,gnomAD
rs778618329	p.Trp1491Gly	missense variant	-	NC_000019.10:g.42356161T>G	ExAC,gnomAD
rs758759457	p.Thr1493Asn	missense variant	-	NC_000019.10:g.42356168C>A	ExAC,TOPMed,gnomAD
rs780355005	p.Leu1494Val	missense variant	-	NC_000019.10:g.42356170C>G	ExAC,gnomAD
rs780355005	p.Leu1494Phe	missense variant	-	NC_000019.10:g.42356170C>T	ExAC,gnomAD
rs1243521460	p.Ser1497Arg	missense variant	-	NC_000019.10:g.42356181C>A	gnomAD
rs1037700454	p.Ser1497Asn	missense variant	-	NC_000019.10:g.42356180G>A	gnomAD
rs1037700454	p.Ser1497Ile	missense variant	-	NC_000019.10:g.42356180G>T	gnomAD
rs747096596	p.Arg1498Cys	missense variant	-	NC_000019.10:g.42356182C>T	ExAC,gnomAD
rs1360905851	p.Arg1498His	missense variant	-	NC_000019.10:g.42356183G>A	gnomAD
rs754966620	p.Leu1499Val	missense variant	-	NC_000019.10:g.42356185C>G	ExAC,gnomAD
rs1284819023	p.Ser1500Leu	missense variant	-	NC_000019.10:g.42356189C>T	gnomAD
COSM3823235	p.Ser1500Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42356188T>C	NCI-TCGA Cosmic
COSM712667	p.Ser1500Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000019.10:g.42356189C>G	NCI-TCGA Cosmic
rs1486099836	p.Ala1501Val	missense variant	-	NC_000019.10:g.42356192C>T	gnomAD
rs1422082418	p.Thr1503Ala	missense variant	-	NC_000019.10:g.42356338A>G	gnomAD
rs1357792592	p.Ala1504Val	missense variant	-	NC_000019.10:g.42356342C>T	gnomAD
COSM997393	p.Ala1504Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42356341G>A	NCI-TCGA Cosmic
rs142361779	p.Arg1506Cys	missense variant	-	NC_000019.10:g.42356347C>T	ESP,ExAC,TOPMed,gnomAD
rs749669318	p.Arg1506His	missense variant	-	NC_000019.10:g.42356348G>A	ExAC,TOPMed,gnomAD
rs1330075223	p.Leu1508Met	missense variant	-	NC_000019.10:g.42356353C>A	gnomAD
rs771242519	p.His1509Arg	missense variant	-	NC_000019.10:g.42356357A>G	ExAC,gnomAD
rs774663979	p.Arg1510Cys	missense variant	-	NC_000019.10:g.42356359C>T	ExAC,TOPMed,gnomAD
rs541874206	p.Arg1510His	missense variant	-	NC_000019.10:g.42356360G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs541874206	p.Arg1510Leu	missense variant	-	NC_000019.10:g.42356360G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1450062353	p.Val1516Met	missense variant	-	NC_000019.10:g.42356377G>A	gnomAD
rs1174761169	p.Asp1517Ala	missense variant	-	NC_000019.10:g.42356381A>C	TOPMed
rs761320396	p.Asp1520Asn	missense variant	-	NC_000019.10:g.42356389G>A	ExAC,gnomAD
rs998320232	p.Trp1524Arg	missense variant	-	NC_000019.10:g.42356401T>C	TOPMed
rs1232390253	p.Met1525Ile	missense variant	-	NC_000019.10:g.42356406G>A	gnomAD
NCI-TCGA novel	p.Gly1527TrpPheSerTerUnkUnk	frameshift	-	NC_000019.10:g.42356406_42356407insT	NCI-TCGA
rs1179202062	p.Gly1528Asp	missense variant	-	NC_000019.10:g.42356414G>A	TOPMed,gnomAD
rs773233865	p.Gly1528Arg	missense variant	-	NC_000019.10:g.42356413G>C	ExAC,gnomAD
rs773233865	p.Gly1528Ser	missense variant	-	NC_000019.10:g.42356413G>A	ExAC,gnomAD
rs1480343193	p.Gly1530Asp	missense variant	-	NC_000019.10:g.42356420G>A	gnomAD
rs762873102	p.Pro1532Ser	missense variant	-	NC_000019.10:g.42356425C>T	ExAC,TOPMed,gnomAD
rs766319489	p.Leu1536Gln	missense variant	-	NC_000019.10:g.42356438T>A	ExAC,gnomAD
rs1443676887	p.Gly1537Glu	missense variant	-	NC_000019.10:g.42356441G>A	gnomAD
rs1291476334	p.Arg1541Lys	missense variant	-	NC_000019.10:g.42356453G>A	gnomAD
rs1342828618	p.Glu1546Val	missense variant	-	NC_000019.10:g.42356788A>T	TOPMed
rs372798483	p.Arg1547Gln	missense variant	-	NC_000019.10:g.42356791G>A	ESP,ExAC,gnomAD
rs778503199	p.Arg1547Trp	missense variant	-	NC_000019.10:g.42356790C>T	TOPMed,gnomAD
rs763033925	p.Arg1548Trp	missense variant	-	NC_000019.10:g.42356793C>T	ExAC,gnomAD
rs375249697	p.Arg1548Gln	missense variant	-	NC_000019.10:g.42356794G>A	TOPMed
rs1476668807	p.Trp1549Ter	stop gained	-	NC_000019.10:g.42356797G>A	gnomAD
rs1180565902	p.Thr1550Ser	missense variant	-	NC_000019.10:g.42356799A>T	gnomAD
rs201947104	p.Gln1551His	missense variant	-	NC_000019.10:g.42356804G>C	1000Genomes,ExAC,gnomAD
rs901194855	p.Met1552Thr	missense variant	-	NC_000019.10:g.42356806T>C	TOPMed,gnomAD
rs774083503	p.Ala1554Val	missense variant	-	NC_000019.10:g.42356812C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu1557Asp	missense variant	-	NC_000019.10:g.42356822G>T	NCI-TCGA
rs767649270	p.Glu1557Lys	missense variant	-	NC_000019.10:g.42356820G>A	ExAC,TOPMed,gnomAD
rs1028418803	p.Asp1558Asn	missense variant	-	NC_000019.10:g.42356823G>A	TOPMed
rs760852092	p.Gly1559Arg	missense variant	-	NC_000019.10:g.42356826G>A	ExAC,TOPMed,gnomAD
rs1246771630	p.Gly1560Cys	missense variant	-	NC_000019.10:g.42356829G>T	TOPMed,gnomAD
rs753896870	p.Gly1560Val	missense variant	-	NC_000019.10:g.42356830G>T	ExAC,gnomAD
rs1246771630	p.Gly1560Ser	missense variant	-	NC_000019.10:g.42356829G>A	TOPMed,gnomAD
rs144124759	p.Pro1561Leu	missense variant	-	NC_000019.10:g.42356833C>T	ESP,ExAC,TOPMed,gnomAD
rs1285412041	p.Pro1563Arg	missense variant	-	NC_000019.10:g.42356839C>G	gnomAD
rs750766731	p.Ser1564Pro	missense variant	-	NC_000019.10:g.42356841T>C	ExAC,TOPMed,gnomAD
rs758739283	p.Ser1564Leu	missense variant	-	NC_000019.10:g.42356842C>T	ExAC,TOPMed,gnomAD
rs1444767873	p.Pro1565Ser	missense variant	-	NC_000019.10:g.42356844C>T	TOPMed,gnomAD
rs1184873585	p.Arg1566Cys	missense variant	-	NC_000019.10:g.42356847C>T	TOPMed,gnomAD
RCV000033072	p.Arg1566His	missense variant	Carpenter syndrome 2 (CRPT2)	NC_000019.10:g.42356848G>A	ClinVar
rs397515427	p.Arg1566Pro	missense variant	-	NC_000019.10:g.42356848G>C	TOPMed,gnomAD
rs397515427	p.Arg1566His	missense variant	-	NC_000019.10:g.42356848G>A	TOPMed,gnomAD
rs397515427	p.Arg1566His	missense variant	Carpenter syndrome 2 (CRPT2)	NC_000019.10:g.42356848G>A	UniProt,dbSNP
VAR_069306	p.Arg1566His	missense variant	Carpenter syndrome 2 (CRPT2)	NC_000019.10:g.42356848G>A	UniProt
rs747875374	p.Phe1568Leu	missense variant	-	NC_000019.10:g.42356853T>C	ExAC,gnomAD
rs376812395	p.Phe1568Ser	missense variant	-	NC_000019.10:g.42356854T>C	ESP,TOPMed,gnomAD
rs966849148	p.Phe1568Leu	missense variant	-	NC_000019.10:g.42356855C>G	TOPMed,gnomAD
NCI-TCGA novel	p.Ala1570Thr	missense variant	-	NC_000019.10:g.42356859G>A	NCI-TCGA
rs1412493418	p.Ala1571Val	missense variant	-	NC_000019.10:g.42356863C>T	gnomAD
rs777483950	p.Ala1572Thr	missense variant	-	NC_000019.10:g.42356865G>A	ExAC,TOPMed,gnomAD
rs771000965	p.Ala1576Thr	missense variant	-	NC_000019.10:g.42356877G>A	ExAC,gnomAD
rs1238613009	p.Gly1577Ser	missense variant	-	NC_000019.10:g.42356880G>A	gnomAD
rs759275421	p.Arg1578His	missense variant	-	NC_000019.10:g.42356884G>A	ExAC,TOPMed,gnomAD
rs774288940	p.Arg1578Cys	missense variant	-	NC_000019.10:g.42356883C>T	ExAC,TOPMed,gnomAD
rs557012688	p.Ala1580Val	missense variant	-	NC_000019.10:g.42356890C>T	1000Genomes,ExAC,gnomAD
rs1217813236	p.Ala1580Thr	missense variant	-	NC_000019.10:g.42356889G>A	gnomAD
rs77422116	p.Met1581Ile	missense variant	-	NC_000019.10:g.42356894G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs769979815	p.Gly1586AspPheSerTerUnkUnkUnk	frameshift	-	NC_000019.10:g.42356903G>-	NCI-TCGA,NCI-TCGA Cosmic
rs1365155635	p.Gly1586Ala	missense variant	-	NC_000019.10:g.42356908G>C	TOPMed,gnomAD
rs764292493	p.Leu1587Ile	missense variant	-	NC_000019.10:g.42356910C>A	ExAC,gnomAD
rs764292493	p.Leu1587Phe	missense variant	-	NC_000019.10:g.42356910C>T	ExAC,gnomAD
rs753919019	p.Thr1588Ile	missense variant	-	NC_000019.10:g.42356914C>T	ExAC,TOPMed,gnomAD
rs753919019	p.Thr1588Asn	missense variant	-	NC_000019.10:g.42356914C>A	ExAC,TOPMed,gnomAD
rs753919019	p.Thr1588Ser	missense variant	-	NC_000019.10:g.42356914C>G	ExAC,TOPMed,gnomAD
rs375545228	p.Ala1589Ser	missense variant	-	NC_000019.10:g.42356916G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs375545228	p.Ala1589Thr	missense variant	-	NC_000019.10:g.42356916G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1168370746	p.Gly1590Arg	missense variant	-	NC_000019.10:g.42356919G>A	gnomAD
rs1390847435	p.Gly1591Val	missense variant	-	NC_000019.10:g.42356923G>T	gnomAD
rs1394464875	p.Gly1591Ser	missense variant	-	NC_000019.10:g.42356922G>A	gnomAD
rs758801392	p.Val1592Ile	missense variant	-	NC_000019.10:g.42356925G>A	ExAC,TOPMed,gnomAD
rs564045592	p.Thr1593Ala	missense variant	-	NC_000019.10:g.42356928A>G	1000Genomes,ExAC,TOPMed,gnomAD
COSM439662	p.Thr1593Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42356928A>T	NCI-TCGA Cosmic
rs1283029110	p.Arg1594Cys	missense variant	-	NC_000019.10:g.42356931C>T	TOPMed,gnomAD
rs141153248	p.Arg1594His	missense variant	-	NC_000019.10:g.42356932G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs144595008	p.Phe1596Leu	missense variant	-	NC_000019.10:g.42356937T>C	ESP,gnomAD
rs1256662215	p.Trp1597Ter	stop gained	-	NC_000019.10:g.42356941G>A	gnomAD
rs755897855	p.Val1598Leu	missense variant	-	NC_000019.10:g.42356943G>C	ExAC,gnomAD
rs1195835686	p.Leu1599Phe	missense variant	-	NC_000019.10:g.42356946C>T	gnomAD
rs748825495	p.Asn1600Ser	missense variant	-	NC_000019.10:g.42356950A>G	ExAC,gnomAD
rs1269341163	p.Thr1602Ser	missense variant	-	NC_000019.10:g.42356956C>G	gnomAD
rs1191449394	p.Gln1605Ter	stop gained	-	NC_000019.10:g.42356964C>T	gnomAD
rs1372410745	p.Trp1606Arg	missense variant	-	NC_000019.10:g.42356967T>C	gnomAD
rs1461581860	p.Trp1606Ter	stop gained	-	NC_000019.10:g.42356968G>A	gnomAD
rs771888892	p.Arg1607Gln	missense variant	-	NC_000019.10:g.42356971G>A	ExAC,TOPMed,gnomAD
rs778751036	p.Arg1607Trp	missense variant	-	NC_000019.10:g.42356970C>T	ExAC,TOPMed,gnomAD
rs775418910	p.Gln1608His	missense variant	-	NC_000019.10:g.42356975G>C	ExAC,gnomAD
NCI-TCGA novel	p.Glu1609Asp	missense variant	-	NC_000019.10:g.42356978G>C	NCI-TCGA
rs746735812	p.Lys1610Met	missense variant	-	NC_000019.10:g.42356980A>T	ExAC,gnomAD
rs1210304605	p.Ala1611Thr	missense variant	-	NC_000019.10:g.42357404G>A	TOPMed
rs779797232	p.Ala1611Gly	missense variant	-	NC_000019.10:g.42357405C>G	ExAC,gnomAD
rs138397020	p.Pro1612Leu	missense variant	-	NC_000019.10:g.42357408C>T	ESP,TOPMed
rs138397020	p.Pro1612His	missense variant	-	NC_000019.10:g.42357408C>A	ESP,TOPMed
rs746827747	p.Pro1612Ser	missense variant	-	NC_000019.10:g.42357407C>T	ExAC,gnomAD
NCI-TCGA novel	p.Gln1613Lys	missense variant	-	NC_000019.10:g.42357410C>A	NCI-TCGA
rs927269746	p.Gln1613Ter	stop gained	-	NC_000019.10:g.42357410C>T	TOPMed
rs1054502372	p.Val1615Met	missense variant	-	NC_000019.10:g.42357416G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Ala1619Thr	missense variant	-	NC_000019.10:g.42357428G>A	NCI-TCGA
rs913420234	p.Ala1619Val	missense variant	-	NC_000019.10:g.42357429C>T	gnomAD
rs748419823	p.Val1620Ile	missense variant	-	NC_000019.10:g.42357431G>A	ExAC,TOPMed,gnomAD
rs1386153968	p.Gly1622Asp	missense variant	-	NC_000019.10:g.42357438G>A	gnomAD
COSM3990063	p.Leu1625Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42357446C>G	NCI-TCGA Cosmic
rs769897000	p.Ala1627Thr	missense variant	-	NC_000019.10:g.42357452G>A	ExAC,gnomAD
rs1446634762	p.Arg1628His	missense variant	-	NC_000019.10:g.42357456G>A	TOPMed
rs371138631	p.Arg1628Cys	missense variant	-	NC_000019.10:g.42357455C>T	ESP,ExAC,TOPMed,gnomAD
rs1057001386	p.Arg1629Ter	stop gained	-	NC_000019.10:g.42357458C>T	TOPMed,gnomAD
rs762874704	p.Arg1629Gln	missense variant	-	NC_000019.10:g.42357459G>A	ExAC,TOPMed,gnomAD
rs766927080	p.Gly1630Ser	missense variant	-	NC_000019.10:g.42357461G>A	ExAC,gnomAD
rs766927080	p.Gly1630Cys	missense variant	-	NC_000019.10:g.42357461G>T	ExAC,gnomAD
NCI-TCGA novel	p.Ser1632Pro	missense variant	-	NC_000019.10:g.42357467T>C	NCI-TCGA
rs1317347461	p.Leu1635Met	missense variant	-	NC_000019.10:g.42357476C>A	gnomAD
rs757795832	p.Gly1638Ser	missense variant	-	NC_000019.10:g.42357485G>A	ExAC,TOPMed,gnomAD
rs757795832	p.Gly1638Cys	missense variant	-	NC_000019.10:g.42357485G>T	ExAC,TOPMed,gnomAD
rs1012952158	p.Tyr1639Ser	missense variant	-	NC_000019.10:g.42357489A>C	TOPMed
rs779996043	p.Ser1640Pro	missense variant	-	NC_000019.10:g.42357491T>C	ExAC,gnomAD
COSM5150222	p.Ser1640Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42357491T>A	NCI-TCGA Cosmic
COSM3534767	p.Ser1640Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42357492C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro1641Ser	missense variant	-	NC_000019.10:g.42357494C>T	NCI-TCGA
rs200200636	p.Pro1641Leu	missense variant	-	NC_000019.10:g.42357495C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1484252887	p.Pro1641Thr	missense variant	-	NC_000019.10:g.42357494C>A	gnomAD
rs781022903	p.Asn1643Asp	missense variant	-	NC_000019.10:g.42357500A>G	ExAC,gnomAD
COSM997396	p.Asn1646Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42357510A>T	NCI-TCGA Cosmic
rs770062059	p.Gln1647Ter	stop gained	-	NC_000019.10:g.42357512C>T	ExAC,gnomAD
rs770062059	p.Gln1647Lys	missense variant	-	NC_000019.10:g.42357512C>A	ExAC,gnomAD
rs777801738	p.Gln1648Lys	missense variant	-	NC_000019.10:g.42357515C>A	ExAC,gnomAD
rs1177703345	p.Glu1651Gln	missense variant	-	NC_000019.10:g.42357524G>C	gnomAD
rs1198885176	p.Gln1653His	missense variant	-	NC_000019.10:g.42357532G>T	TOPMed
rs1407686097	p.Thr1656Ala	missense variant	-	NC_000019.10:g.42357539A>G	gnomAD
rs770879154	p.Gly1657Ser	missense variant	-	NC_000019.10:g.42357542G>A	ExAC,TOPMed,gnomAD
rs770879154	p.Gly1657Arg	missense variant	-	NC_000019.10:g.42357542G>C	ExAC,TOPMed,gnomAD
rs770879154	p.Gly1657Cys	missense variant	-	NC_000019.10:g.42357542G>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val1660Leu	missense variant	-	NC_000019.10:g.42357551G>T	NCI-TCGA
rs1312076118	p.Val1660Met	missense variant	-	NC_000019.10:g.42357551G>A	TOPMed
rs760174580	p.Ser1661Leu	missense variant	-	NC_000019.10:g.42357555C>T	ExAC,gnomAD
rs772698035	p.Gly1662Ala	missense variant	-	NC_000019.10:g.42357558G>C	ExAC,gnomAD
rs750002229	p.Pro1668Arg	missense variant	-	NC_000019.10:g.42357576C>G	ExAC,gnomAD
COSM1394157	p.Thr1670GlnPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000019.10:g.42357575C>-	NCI-TCGA Cosmic
rs373373576	p.Leu1672Ile	missense variant	-	NC_000019.10:g.42358146C>A	ESP,gnomAD
rs143215498	p.Tyr1673Cys	missense variant	-	NC_000019.10:g.42358150A>G	ESP,ExAC,TOPMed,gnomAD
rs767465945	p.Glu1681Lys	missense variant	-	NC_000019.10:g.42358173G>A	ExAC,TOPMed,gnomAD
rs1243176183	p.Asp1684Asn	missense variant	-	NC_000019.10:g.42358182G>A	gnomAD
rs1181212329	p.Tyr1687Cys	missense variant	-	NC_000019.10:g.42358192A>G	gnomAD
rs763848067	p.Val1688Met	missense variant	-	NC_000019.10:g.42358194G>A	ExAC,TOPMed,gnomAD
rs1184120440	p.Val1688Glu	missense variant	-	NC_000019.10:g.42358195T>A	TOPMed,gnomAD
rs1416418731	p.Gly1690Arg	missense variant	-	NC_000019.10:g.42358200G>C	TOPMed
rs757553830	p.Phe1692Leu	missense variant	-	NC_000019.10:g.42358208C>A	ExAC,gnomAD
rs1009453797	p.Arg1693Ter	stop gained	-	NC_000019.10:g.42358209C>T	gnomAD
rs992148309	p.Arg1693Gln	missense variant	-	NC_000019.10:g.42358210G>A	TOPMed,gnomAD
rs779216381	p.His1695Leu	missense variant	-	NC_000019.10:g.42358216A>T	ExAC,gnomAD
rs1437438277	p.His1695Tyr	missense variant	-	NC_000019.10:g.42358215C>T	gnomAD
rs1382040371	p.Val1696Leu	missense variant	-	NC_000019.10:g.42358218G>T	gnomAD
rs1349042692	p.Glu1697Lys	missense variant	-	NC_000019.10:g.42358221G>A	gnomAD
rs745965273	p.Ala1699Val	missense variant	-	NC_000019.10:g.42358228C>T	ExAC,gnomAD
COSM4078763	p.Ala1699Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42358227G>A	NCI-TCGA Cosmic
rs1241997062	p.Ala1700Thr	missense variant	-	NC_000019.10:g.42358230G>A	gnomAD
rs532969963	p.Pro1703Thr	missense variant	-	NC_000019.10:g.42358239C>A	ExAC,TOPMed,gnomAD
rs532969963	p.Pro1703Ser	missense variant	-	NC_000019.10:g.42358239C>T	ExAC,TOPMed,gnomAD
rs747518909	p.Glu1704Lys	missense variant	-	NC_000019.10:g.42358242G>A	ExAC,gnomAD
rs1413823543	p.Leu1705Ile	missense variant	-	NC_000019.10:g.42358245C>A	gnomAD
rs776927604	p.Tyr1706Asn	missense variant	-	NC_000019.10:g.42358248T>A	ExAC,gnomAD
rs1396655020	p.Ser1707Thr	missense variant	-	NC_000019.10:g.42358251T>A	gnomAD
rs770586263	p.His1709Tyr	missense variant	-	NC_000019.10:g.42358257C>T	ExAC,gnomAD
NCI-TCGA novel	p.Pro1711Ser	missense variant	-	NC_000019.10:g.42358263C>T	NCI-TCGA
rs773945286	p.Pro1711Leu	missense variant	-	NC_000019.10:g.42358264C>T	ExAC,TOPMed,gnomAD
rs367825461	p.Arg1713His	missense variant	-	NC_000019.10:g.42358270G>A	ESP,ExAC,TOPMed,gnomAD
rs1289388024	p.Arg1713Cys	missense variant	-	NC_000019.10:g.42358269C>T	TOPMed,gnomAD
rs767056887	p.Thr1714Ile	missense variant	-	NC_000019.10:g.42358273C>T	ExAC,gnomAD
rs1296638034	p.Trp1715Ter	stop gained	-	NC_000019.10:g.42358276G>A	TOPMed
rs775046696	p.Leu1717Gln	missense variant	-	NC_000019.10:g.42358282T>A	ExAC,gnomAD
rs1270514217	p.Pro1720Leu	missense variant	-	NC_000019.10:g.42358291C>T	gnomAD
rs760591664	p.Ser1721Pro	missense variant	-	NC_000019.10:g.42358293T>C	ExAC,gnomAD
rs764022580	p.Gly1723Trp	missense variant	-	NC_000019.10:g.42358299G>T	ExAC,TOPMed,gnomAD
rs764022580	p.Gly1723Arg	missense variant	-	NC_000019.10:g.42358299G>A	ExAC,TOPMed,gnomAD
rs757067402	p.Gly1723Ala	missense variant	-	NC_000019.10:g.42358300G>C	ExAC,TOPMed,gnomAD
rs764022580	p.Gly1723Arg	missense variant	-	NC_000019.10:g.42358299G>C	ExAC,TOPMed,gnomAD
rs575409028	p.Ala1724Thr	missense variant	-	NC_000019.10:g.42358302G>A	1000Genomes,ExAC,gnomAD
rs575409028	p.Ala1724Ser	missense variant	-	NC_000019.10:g.42358302G>T	1000Genomes,ExAC,gnomAD
rs760169784	p.Arg1726Ter	stop gained	-	NC_000019.10:g.42358787C>T	ExAC,TOPMed,gnomAD
rs768497871	p.Arg1726Gln	missense variant	-	NC_000019.10:g.42358788G>A	ExAC,gnomAD
rs776666559	p.Arg1728His	missense variant	-	NC_000019.10:g.42358794G>A	ExAC,TOPMed,gnomAD
rs1316794438	p.Arg1728Cys	missense variant	-	NC_000019.10:g.42358793C>T	TOPMed,gnomAD
rs761809949	p.Met1729Ile	missense variant	-	NC_000019.10:g.42358798G>A	ExAC,TOPMed,gnomAD
rs761809949	p.Met1729Ile	missense variant	-	NC_000019.10:g.42358798G>T	ExAC,TOPMed,gnomAD
rs1187157009	p.Arg1730Ser	missense variant	-	NC_000019.10:g.42358801G>C	TOPMed
rs540356511	p.Arg1730Thr	missense variant	-	NC_000019.10:g.42358800G>C	1000Genomes,ExAC,gnomAD
rs540356511	p.Arg1730Met	missense variant	-	NC_000019.10:g.42358800G>T	1000Genomes,ExAC,gnomAD
rs1187157009	p.Arg1730Ser	missense variant	-	NC_000019.10:g.42358801G>T	TOPMed
rs371976691	p.Arg1733Leu	missense variant	-	NC_000019.10:g.42358809G>T	ESP,ExAC,TOPMed,gnomAD
rs371976691	p.Arg1733His	missense variant	-	NC_000019.10:g.42358809G>A	ESP,ExAC,TOPMed,gnomAD
rs113983707	p.Arg1733Gly	missense variant	-	NC_000019.10:g.42358808C>G	TOPMed,gnomAD
rs113983707	p.Arg1733Cys	missense variant	-	NC_000019.10:g.42358808C>T	TOPMed,gnomAD
rs1265815807	p.Gly1734Ser	missense variant	-	NC_000019.10:g.42358811G>A	gnomAD
NCI-TCGA novel	p.Ser1735Ter	stop gained	-	NC_000019.10:g.42358815C>G	NCI-TCGA
rs751604046	p.Ser1736Phe	missense variant	-	NC_000019.10:g.42358818C>T	ExAC,gnomAD
rs375083726	p.Arg1737Trp	missense variant	-	NC_000019.10:g.42358820C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs781582606	p.Arg1737Gln	missense variant	-	NC_000019.10:g.42358821G>A	ExAC,gnomAD
rs1392034850	p.Gly1738Val	missense variant	-	NC_000019.10:g.42358824G>T	gnomAD
rs1257833812	p.Leu1739Val	missense variant	-	NC_000019.10:g.42358826C>G	TOPMed
rs372360723	p.Gly1740Asp	missense variant	-	NC_000019.10:g.42358830G>A	ESP,ExAC,TOPMed,gnomAD
rs369842921	p.Gly1740Ser	missense variant	-	NC_000019.10:g.42358829G>A	ESP,ExAC,TOPMed,gnomAD
rs778172293	p.Pro1743Ser	missense variant	-	NC_000019.10:g.42358838C>T	ExAC,TOPMed,gnomAD
rs147522761	p.Pro1747Ser	missense variant	-	NC_000019.10:g.42358850C>T	ESP,ExAC,TOPMed,gnomAD
rs1384865940	p.Gly1748Glu	missense variant	-	NC_000019.10:g.42358854G>A	gnomAD
rs1301150909	p.Ser1749Ala	missense variant	-	NC_000019.10:g.42358856T>G	TOPMed
rs1321990138	p.Trp1750Ter	stop gained	-	NC_000019.10:g.42358860G>A	gnomAD
rs771633323	p.Phe1752Leu	missense variant	-	NC_000019.10:g.42358865T>C	ExAC,gnomAD
rs139859934	p.Arg1753Trp	missense variant	-	NC_000019.10:g.42358868C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201626121	p.Arg1753Gln	missense variant	-	NC_000019.10:g.42358869G>A	ExAC,TOPMed,gnomAD
rs201626121	p.Arg1753Leu	missense variant	-	NC_000019.10:g.42358869G>T	ExAC,TOPMed,gnomAD
COSM3534776	p.Glu1754Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42358871G>A	NCI-TCGA Cosmic
rs776256709	p.Arg1756Gly	missense variant	-	NC_000019.10:g.42358877A>G	ExAC,gnomAD
rs1206038	p.Lys1758Glu	missense variant	-	NC_000019.10:g.42358883A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1013809333	p.Lys1758Arg	missense variant	-	NC_000019.10:g.42358884A>G	TOPMed
rs562782890	p.Met1759Val	missense variant	-	NC_000019.10:g.42358886A>G	1000Genomes,ExAC,gnomAD
rs1459995421	p.Met1759Ile	missense variant	-	NC_000019.10:g.42358888G>A	gnomAD
rs773145911	p.Ala1760Thr	missense variant	-	NC_000019.10:g.42358889G>A	ExAC,gnomAD
rs1413977081	p.Ala1760Val	missense variant	-	NC_000019.10:g.42358890C>T	TOPMed
RCV000527674	p.Leu1761Val	missense variant	Carpenter syndrome 2 (CRPT2)	NC_000019.10:g.42358892C>G	ClinVar
rs150607375	p.Leu1761Val	missense variant	-	NC_000019.10:g.42358892C>G	ESP,ExAC,TOPMed,gnomAD
rs767687495	p.Ala1763Val	missense variant	-	NC_000019.10:g.42358899C>T	ExAC,gnomAD
rs751766816	p.Ala1763Thr	missense variant	-	NC_000019.10:g.42358898G>A	ExAC,gnomAD
rs751766816	p.Ala1763Ser	missense variant	-	NC_000019.10:g.42358898G>T	ExAC,gnomAD
rs1201933643	p.Leu1765Phe	missense variant	-	NC_000019.10:g.42358904C>T	TOPMed,gnomAD
rs1201933643	p.Leu1765Val	missense variant	-	NC_000019.10:g.42358904C>G	TOPMed,gnomAD
rs752764127	p.Ala1766Gly	missense variant	-	NC_000019.10:g.42358908C>G	ExAC,gnomAD
rs1458236021	p.Gly1767Ser	missense variant	-	NC_000019.10:g.42358910G>A	gnomAD
rs756683475	p.Thr1768Ala	missense variant	-	NC_000019.10:g.42358913A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly1769Ter	stop gained	-	NC_000019.10:g.42358916G>T	NCI-TCGA
rs1303112911	p.Phe1771Ser	missense variant	-	NC_000019.10:g.42358923T>C	gnomAD
rs754218851	p.Glu1773Lys	missense variant	-	NC_000019.10:g.42358928G>A	ExAC,gnomAD
rs149787596	p.Glu1774Gln	missense variant	-	NC_000019.10:g.42358931G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1230170731	p.Ile1775Thr	missense variant	-	NC_000019.10:g.42358935T>C	gnomAD
rs779113255	p.Pro1777Ser	missense variant	-	NC_000019.10:g.42358940C>T	ExAC,gnomAD
rs746722708	p.His1778Asn	missense variant	-	NC_000019.10:g.42358943C>A	ExAC,gnomAD
rs537432708	p.Pro1782Leu	missense variant	-	NC_000019.10:g.42359099C>T	1000Genomes,ExAC,gnomAD
rs1364655817	p.Pro1782Ser	missense variant	-	NC_000019.10:g.42359098C>T	gnomAD
rs373745990	p.Arg1783Cys	missense variant	-	NC_000019.10:g.42359101C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs183945597	p.Arg1783His	missense variant	-	NC_000019.10:g.42359102G>A	1000Genomes,TOPMed,gnomAD
rs1297229430	p.Pro1784Arg	missense variant	-	NC_000019.10:g.42359105C>G	TOPMed,gnomAD
rs1297229430	p.Pro1784Leu	missense variant	-	NC_000019.10:g.42359105C>T	TOPMed,gnomAD
rs772299336	p.Arg1785Trp	missense variant	-	NC_000019.10:g.42359107C>T	ExAC,TOPMed,gnomAD
rs775645539	p.Arg1785Gln	missense variant	-	NC_000019.10:g.42359108G>A	ExAC,TOPMed,gnomAD
rs1460204206	p.His1788Pro	missense variant	-	NC_000019.10:g.42359117A>C	TOPMed
rs376869149	p.Ala1789Ser	missense variant	-	NC_000019.10:g.42359119G>T	ESP,ExAC,TOPMed,gnomAD
rs376869149	p.Ala1789Thr	missense variant	-	NC_000019.10:g.42359119G>A	ESP,ExAC,TOPMed,gnomAD
rs370106282	p.Ala1791Ser	missense variant	-	NC_000019.10:g.42359125G>T	ESP,ExAC,TOPMed,gnomAD
rs144734416	p.Gly1794Trp	missense variant	-	NC_000019.10:g.42359134G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs765595234	p.Asp1795Asn	missense variant	-	NC_000019.10:g.42359137G>A	ExAC,TOPMed,gnomAD
rs765595234	p.Asp1795Tyr	missense variant	-	NC_000019.10:g.42359137G>T	ExAC,TOPMed,gnomAD
rs1166880621	p.Met1797Thr	missense variant	-	NC_000019.10:g.42359144T>C	gnomAD
rs758787847	p.Met1797Val	missense variant	-	NC_000019.10:g.42359143A>G	ExAC,gnomAD
rs1343364367	p.Val1798Ala	missense variant	-	NC_000019.10:g.42359147T>C	gnomAD
rs767310853	p.Val1799Ile	missense variant	-	NC_000019.10:g.42359149G>A	ExAC,TOPMed,gnomAD
rs767310853	p.Val1799Phe	missense variant	-	NC_000019.10:g.42359149G>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly1801Val	missense variant	-	NC_000019.10:g.42359156G>T	NCI-TCGA
NCI-TCGA novel	p.Gly1801Arg	missense variant	-	NC_000019.10:g.42359155G>A	NCI-TCGA
NCI-TCGA novel	p.Arg1803AlaPheSerTerUnkUnk	frameshift	-	NC_000019.10:g.42359155G>-	NCI-TCGA
rs755807533	p.Arg1803Cys	missense variant	-	NC_000019.10:g.42359161C>T	ExAC,TOPMed,gnomAD
rs777401427	p.Arg1803His	missense variant	-	NC_000019.10:g.42359162G>A	ExAC,TOPMed,gnomAD
rs748747156	p.Ser1804Pro	missense variant	-	NC_000019.10:g.42359164T>C	ExAC,gnomAD
COSM3534779	p.Ser1804Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42359164T>A	NCI-TCGA Cosmic
rs757227265	p.Ser1804Leu	missense variant	-	NC_000019.10:g.42359165C>T	ExAC,TOPMed,gnomAD
rs1208577092	p.Asp1805Asn	missense variant	-	NC_000019.10:g.42359167G>A	gnomAD
NCI-TCGA novel	p.Asp1807Val	missense variant	-	NC_000019.10:g.42359174A>T	NCI-TCGA
rs377685078	p.Asp1807Glu	missense variant	-	NC_000019.10:g.42359175C>A	ESP,ExAC,TOPMed,gnomAD
rs377685078	p.Asp1807Glu	missense variant	-	NC_000019.10:g.42359175C>G	ESP,ExAC,TOPMed,gnomAD
RCV000593710	p.Glu1808Lys	missense variant	-	NC_000019.10:g.42359176G>A	ClinVar
rs771890594	p.Glu1808Lys	missense variant	-	NC_000019.10:g.42359176G>A	ExAC,gnomAD
rs747286989	p.Asp1812Asn	missense variant	-	NC_000019.10:g.42359188G>A	ExAC,TOPMed,gnomAD
rs375636196	p.Val1813Ile	missense variant	-	NC_000019.10:g.42359191G>A	ESP,ExAC,TOPMed,gnomAD
rs761740209	p.Leu1814Pro	missense variant	-	NC_000019.10:g.42359195T>C	ExAC,gnomAD
COSM1564398	p.Leu1814Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42359195T>G	NCI-TCGA Cosmic
rs1159767707	p.Gln1817Glu	missense variant	-	NC_000019.10:g.42359203C>G	gnomAD
rs1458856147	p.Val1818Leu	missense variant	-	NC_000019.10:g.42359206G>C	gnomAD
rs770356408	p.Cys1820Gly	missense variant	-	NC_000019.10:g.42359212T>G	ExAC,gnomAD
rs763524369	p.Leu1824Phe	missense variant	-	NC_000019.10:g.42359224C>T	ExAC,TOPMed
rs763524369	p.Leu1824Ile	missense variant	-	NC_000019.10:g.42359224C>A	ExAC,TOPMed
rs373601254	p.Pro1826Arg	missense variant	-	NC_000019.10:g.42359231C>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp1827Gly	missense variant	-	NC_000019.10:g.42359234A>G	NCI-TCGA
rs753405679	p.Asp1827Asn	missense variant	-	NC_000019.10:g.42359233G>A	ExAC,TOPMed,gnomAD
rs753405679	p.Asp1827Tyr	missense variant	-	NC_000019.10:g.42359233G>T	ExAC,TOPMed,gnomAD
rs756677988	p.Leu1828Phe	missense variant	-	NC_000019.10:g.42359236C>T	ExAC,gnomAD
rs1021962670	p.Thr1829Asn	missense variant	-	NC_000019.10:g.42359240C>A	gnomAD
rs1021962670	p.Thr1829Ile	missense variant	-	NC_000019.10:g.42359240C>T	gnomAD
rs778451338	p.Arg1830Cys	missense variant	-	NC_000019.10:g.42359242C>T	ExAC,TOPMed,gnomAD
rs139959427	p.Ser1831Leu	missense variant	-	NC_000019.10:g.42360778C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1270404536	p.Ser1831Pro	missense variant	-	NC_000019.10:g.42360777T>C	gnomAD
rs924070758	p.Ala1832Pro	missense variant	-	NC_000019.10:g.42360780G>C	TOPMed
rs759962028	p.Ser1833Phe	missense variant	-	NC_000019.10:g.42360784C>T	ExAC,TOPMed,gnomAD
rs1489840022	p.Val1834Ala	missense variant	-	NC_000019.10:g.42360787T>C	TOPMed,gnomAD
rs1198032083	p.Gly1835Arg	missense variant	-	NC_000019.10:g.42360789G>A	gnomAD
rs753468610	p.Pro1836Leu	missense variant	-	NC_000019.10:g.42360793C>T	ExAC,gnomAD
rs1434425101	p.Pro1836Ser	missense variant	-	NC_000019.10:g.42360792C>T	TOPMed
rs1388547768	p.Pro1837Ser	missense variant	-	NC_000019.10:g.42360795C>T	TOPMed,gnomAD
rs1388547768	p.Pro1837Ala	missense variant	-	NC_000019.10:g.42360795C>G	TOPMed,gnomAD
rs200501111	p.Met1838Val	missense variant	-	NC_000019.10:g.42360798A>G	ExAC,TOPMed,gnomAD
rs1323424925	p.Glu1840Ala	missense variant	-	NC_000019.10:g.42360805A>C	gnomAD
rs764670241	p.Glu1840Lys	missense variant	-	NC_000019.10:g.42360804G>A	ExAC,gnomAD
rs538368877	p.Ser1841Thr	missense variant	-	NC_000019.10:g.42360807T>A	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Val1842Ala	missense variant	-	NC_000019.10:g.42360811T>C	NCI-TCGA
rs143508185	p.Val1842Met	missense variant	-	NC_000019.10:g.42360810G>A	ESP,ExAC,TOPMed,gnomAD
rs143508185	p.Val1842Leu	missense variant	-	NC_000019.10:g.42360810G>C	ESP,ExAC,TOPMed,gnomAD
rs1228595988	p.His1844Tyr	missense variant	-	NC_000019.10:g.42360816C>T	gnomAD
rs765113981	p.Ala1847Val	missense variant	-	NC_000019.10:g.42360826C>T	ExAC,gnomAD
rs754698123	p.Gly1850Arg	missense variant	-	NC_000019.10:g.42360834G>A	ExAC,TOPMed,gnomAD
rs556689644	p.Arg1852His	missense variant	-	NC_000019.10:g.42360841G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs751715083	p.Arg1852Cys	missense variant	-	NC_000019.10:g.42360840C>T	ExAC,TOPMed,gnomAD
rs749372231	p.Tyr1854Ter	stop gained	-	NC_000019.10:g.42360848T>A	ExAC,gnomAD
rs1384146906	p.Ile1855Met	missense variant	-	NC_000019.10:g.42360851C>G	gnomAD
rs1392446692	p.Gly1860Arg	missense variant	-	NC_000019.10:g.42360864G>A	gnomAD
NCI-TCGA novel	p.Gly1861GluPheSerTerUnkUnk	frameshift	-	NC_000019.10:g.42360864G>-	NCI-TCGA
RCV000345932	p.Gly1861Arg	missense variant	-	NC_000019.10:g.42360867G>A	ClinVar
rs774973725	p.Gly1861Arg	missense variant	-	NC_000019.10:g.42360867G>A	ExAC,gnomAD
rs772349120	p.Val1862Met	missense variant	-	NC_000019.10:g.42360870G>A	ExAC,TOPMed,gnomAD
rs1002807575	p.Arg1866His	missense variant	-	NC_000019.10:g.42360883G>A	TOPMed,gnomAD
rs761380156	p.Arg1866Cys	missense variant	-	NC_000019.10:g.42360882C>T	ExAC,gnomAD
rs751528860	p.Thr1871Pro	missense variant	-	NC_000019.10:g.42360897A>C	ExAC
rs1206671096	p.Leu1872Pro	missense variant	-	NC_000019.10:g.42360901T>C	gnomAD
rs1228453357	p.Pro1873Leu	missense variant	-	NC_000019.10:g.42360904C>T	TOPMed,gnomAD
rs767228232	p.Asp1875Ala	missense variant	-	NC_000019.10:g.42360910A>C	ExAC,TOPMed,gnomAD
rs572272792	p.Arg1878Cys	missense variant	-	NC_000019.10:g.42360918C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs756355683	p.Arg1878His	missense variant	-	NC_000019.10:g.42360919G>A	ExAC,TOPMed,gnomAD
rs756355683	p.Arg1878Pro	missense variant	-	NC_000019.10:g.42360919G>C	ExAC,TOPMed,gnomAD
rs1187296330	p.Leu1879Pro	missense variant	-	NC_000019.10:g.42360922T>C	gnomAD
rs1369343441	p.Ser1881Phe	missense variant	-	NC_000019.10:g.42360928C>T	gnomAD
rs1182765199	p.Pro1883Ser	missense variant	-	NC_000019.10:g.42360933C>T	TOPMed
rs1482869200	p.Glu1884Gly	missense variant	-	NC_000019.10:g.42360937A>G	TOPMed
rs1157522431	p.Glu1884Lys	missense variant	-	NC_000019.10:g.42360936G>A	gnomAD
rs757377529	p.Ala1885Thr	missense variant	-	NC_000019.10:g.42360939G>A	ExAC,gnomAD
rs1399594867	p.Gln1888Arg	missense variant	-	NC_000019.10:g.42360949A>G	gnomAD
NCI-TCGA novel	p.Gly1890Ala	missense variant	-	NC_000019.10:g.42360955G>C	NCI-TCGA
rs772567593	p.Gly1890Glu	missense variant	-	NC_000019.10:g.42360955G>A	ExAC,TOPMed,gnomAD
rs1211966094	p.Gly1890Arg	missense variant	-	NC_000019.10:g.42360954G>A	TOPMed
rs1283753084	p.Ala1891Val	missense variant	-	NC_000019.10:g.42360958C>T	TOPMed
rs775787509	p.Cys1892Tyr	missense variant	-	NC_000019.10:g.42360961G>A	ExAC,gnomAD
COSM3783247	p.Cys1892Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42360962C>G	NCI-TCGA Cosmic
rs747389441	p.Thr1893Pro	missense variant	-	NC_000019.10:g.42360963A>C	ExAC,gnomAD
rs1331269212	p.Thr1893Ile	missense variant	-	NC_000019.10:g.42360964C>T	TOPMed
rs990130007	p.Cys1895Phe	missense variant	-	NC_000019.10:g.42360970G>T	TOPMed
rs150311870	p.His1896Tyr	missense variant	-	NC_000019.10:g.42360972C>T	ESP,ExAC,TOPMed,gnomAD
rs946184919	p.His1896Leu	missense variant	-	NC_000019.10:g.42360973A>T	TOPMed
rs1262506920	p.Gly1897Arg	missense variant	-	NC_000019.10:g.42360975G>A	gnomAD
rs772821463	p.Gly1897Glu	missense variant	-	NC_000019.10:g.42360976G>A	ExAC,TOPMed,gnomAD
rs772821463	p.Gly1897Ala	missense variant	-	NC_000019.10:g.42360976G>C	ExAC,TOPMed,gnomAD
rs1200046683	p.Ala1898Thr	missense variant	-	NC_000019.10:g.42360978G>A	gnomAD
rs765896835	p.Gly1902Arg	missense variant	-	NC_000019.10:g.42360990G>A	ExAC,TOPMed,gnomAD
rs765896835	p.Gly1902Arg	missense variant	-	NC_000019.10:g.42360990G>C	ExAC,TOPMed,gnomAD
rs767483374	p.Asp1903His	missense variant	-	NC_000019.10:g.42360993G>C	ExAC,TOPMed,gnomAD
rs758042892	p.Asp1903Val	missense variant	-	NC_000019.10:g.42360994A>T	ExAC,TOPMed,gnomAD
rs1343266607	p.Arg1907Ser	missense variant	-	NC_000019.10:g.42362090G>T	TOPMed,gnomAD
rs760492927	p.Arg1907Gly	missense variant	-	NC_000019.10:g.42361005A>G	ExAC,gnomAD
rs752130198	p.Gly1909Ser	missense variant	-	NC_000019.10:g.42362094G>A	ExAC,TOPMed,gnomAD
rs574708619	p.Gly1911Arg	missense variant	-	NC_000019.10:g.42362100G>A	gnomAD
rs371862361	p.Gly1912Cys	missense variant	-	NC_000019.10:g.42362103G>T	ESP,ExAC,TOPMed,gnomAD
COSM6084870	p.Ser1913Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42362107C>T	NCI-TCGA Cosmic
rs147084460	p.Pro1914Ala	missense variant	-	NC_000019.10:g.42362109C>G	ESP,ExAC,TOPMed,gnomAD
rs1162667034	p.Pro1914Leu	missense variant	-	NC_000019.10:g.42362110C>T	gnomAD
NCI-TCGA novel	p.Cys1915AlaPheSerTerUnkUnkUnk	frameshift	-	NC_000019.10:g.42362107C>-	NCI-TCGA
rs1458287210	p.Cys1915Trp	missense variant	-	NC_000019.10:g.42362114C>G	gnomAD
rs768713408	p.Met1918Leu	missense variant	-	NC_000019.10:g.42362121A>T	ExAC,TOPMed,gnomAD
rs776629555	p.Met1918Ile	missense variant	-	NC_000019.10:g.42362123G>A	ExAC,gnomAD
rs768713408	p.Met1918Val	missense variant	-	NC_000019.10:g.42362121A>G	ExAC,TOPMed,gnomAD
rs1366432152	p.Pro1919Ser	missense variant	-	NC_000019.10:g.42362124C>T	gnomAD
rs761681313	p.Pro1919Leu	missense variant	-	NC_000019.10:g.42362125C>T	ExAC,gnomAD
rs765419448	p.Arg1920Cys	missense variant	-	NC_000019.10:g.42362127C>T	ExAC,TOPMed,gnomAD
rs773515719	p.Arg1920His	missense variant	-	NC_000019.10:g.42362128G>A	ExAC,TOPMed,gnomAD
rs763036582	p.Ser1921Phe	missense variant	-	NC_000019.10:g.42362131C>T	ExAC,TOPMed,gnomAD
rs766493787	p.Pro1922Leu	missense variant	-	NC_000019.10:g.42362134C>T	ExAC,TOPMed,gnomAD
rs1248247868	p.Glu1924Lys	missense variant	-	NC_000019.10:g.42362139G>A	gnomAD
rs755544228	p.Cys1925Arg	missense variant	-	NC_000019.10:g.42362142T>C	ExAC,gnomAD
rs1179905864	p.Arg1926Gln	missense variant	-	NC_000019.10:g.42362146G>A	TOPMed,gnomAD
rs559115816	p.Arg1927His	missense variant	-	NC_000019.10:g.42362149G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs368438075	p.Arg1927Cys	missense variant	-	NC_000019.10:g.42362148C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs914334810	p.Arg1929Gln	missense variant	-	NC_000019.10:g.42362155G>A	TOPMed
rs529688057	p.Arg1929Trp	missense variant	-	NC_000019.10:g.42362154C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1455687444	p.Cys1931Tyr	missense variant	-	NC_000019.10:g.42362161G>A	gnomAD
NCI-TCGA novel	p.Ser1932Ile	missense variant	-	NC_000019.10:g.42362164G>T	NCI-TCGA
rs1320206074	p.Glu1933Gly	missense variant	-	NC_000019.10:g.42362167A>G	gnomAD
rs1389646411	p.Ala1936Thr	missense variant	-	NC_000019.10:g.42362175G>A	gnomAD
rs777955709	p.Arg1937Cys	missense variant	-	NC_000019.10:g.42362178C>T	ExAC,TOPMed,gnomAD
rs745553573	p.Arg1937His	missense variant	-	NC_000019.10:g.42362179G>A	ExAC,TOPMed,gnomAD
rs777955709	p.Arg1937Ser	missense variant	-	NC_000019.10:g.42362178C>A	ExAC,TOPMed,gnomAD
rs757924699	p.His1938Tyr	missense variant	-	NC_000019.10:g.42362181C>T	ExAC,TOPMed,gnomAD
rs746507572	p.Pro1939Ser	missense variant	-	NC_000019.10:g.42362184C>T	ExAC,gnomAD
rs768766308	p.Arg1940Trp	missense variant	-	NC_000019.10:g.42362187C>T	ExAC,gnomAD
rs776680225	p.Arg1940Gln	missense variant	-	NC_000019.10:g.42362188G>A	ExAC,gnomAD
rs748061021	p.Gly1945Arg	missense variant	-	NC_000019.10:g.42362202G>A	ExAC,gnomAD
COSM997405	p.Gly1947Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42362209G>A	NCI-TCGA Cosmic
rs542990173	p.Glu1948Gln	missense variant	-	NC_000019.10:g.42362211G>C	1000Genomes,ExAC,gnomAD
rs542990173	p.Glu1948Lys	missense variant	-	NC_000019.10:g.42362211G>A	1000Genomes,ExAC,gnomAD
rs772826136	p.Glu1948Asp	missense variant	-	NC_000019.10:g.42362213G>C	ExAC,gnomAD
rs1410318253	p.Ala1949Thr	missense variant	-	NC_000019.10:g.42362384G>A	TOPMed
rs779553499	p.Ala1949Val	missense variant	-	NC_000019.10:g.42362385C>T	ExAC,TOPMed,gnomAD
rs1409781298	p.Ser1950Thr	missense variant	-	NC_000019.10:g.42362387T>A	TOPMed,gnomAD
rs1409781298	p.Ser1950Pro	missense variant	-	NC_000019.10:g.42362387T>C	TOPMed,gnomAD
rs1459691011	p.Thr1951Ile	missense variant	-	NC_000019.10:g.42362391C>T	TOPMed
rs759524232	p.Pro1952Leu	missense variant	-	NC_000019.10:g.42362394C>T	ExAC,TOPMed,gnomAD
rs759524232	p.Pro1952His	missense variant	-	NC_000019.10:g.42362394C>A	ExAC,TOPMed,gnomAD
rs759524232	p.Pro1952Arg	missense variant	-	NC_000019.10:g.42362394C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg1953AlaPheSerTerUnkUnk	frameshift	-	NC_000019.10:g.42362391C>-	NCI-TCGA
rs34475546	p.Arg1953Gly	missense variant	-	NC_000019.10:g.42362396C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs771233244	p.Arg1953Leu	missense variant	-	NC_000019.10:g.42362397G>T	ExAC,TOPMed,gnomAD
COSM5106475	p.Arg1953ProPheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000019.10:g.42362390_42362391insC	NCI-TCGA Cosmic
rs34475546	p.Arg1953Ser	missense variant	-	NC_000019.10:g.42362396C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs771233244	p.Arg1953His	missense variant	-	NC_000019.10:g.42362397G>A	ExAC,TOPMed,gnomAD
rs34475546	p.Arg1953Cys	missense variant	-	NC_000019.10:g.42362396C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs774522665	p.Cys1954Arg	missense variant	-	NC_000019.10:g.42362399T>C	ExAC,gnomAD
NCI-TCGA novel	p.Lys1955Glu	missense variant	-	NC_000019.10:g.42362402A>G	NCI-TCGA
rs1205847294	p.Trp1956Cys	missense variant	-	NC_000019.10:g.42362407G>T	TOPMed,gnomAD
rs1336322277	p.Cys1957Arg	missense variant	-	NC_000019.10:g.42362408T>C	TOPMed
rs772158196	p.Cys1957Tyr	missense variant	-	NC_000019.10:g.42362409G>A	ExAC,gnomAD
rs1454888198	p.Glu1962Lys	missense variant	-	NC_000019.10:g.42362423G>A	gnomAD
rs1385173325	p.Ile1966Thr	missense variant	-	NC_000019.10:g.42362436T>C	TOPMed
rs1429485512	p.Arg1968Cys	missense variant	-	NC_000019.10:g.42362441C>T	TOPMed,gnomAD
rs1429485512	p.Arg1968Ser	missense variant	-	NC_000019.10:g.42362441C>A	TOPMed,gnomAD
rs762056701	p.Arg1968His	missense variant	-	NC_000019.10:g.42362442G>A	ExAC,gnomAD
rs1399250960	p.Asn1969Asp	missense variant	-	NC_000019.10:g.42362444A>G	TOPMed,gnomAD
rs765659720	p.Asn1969Ser	missense variant	-	NC_000019.10:g.42362445A>G	ExAC,TOPMed,gnomAD
rs200684391	p.Gly1970Val	missense variant	-	NC_000019.10:g.42362448G>T	1000Genomes,ExAC,gnomAD
rs371840641	p.Thr1973Ile	missense variant	-	NC_000019.10:g.42362457C>T	ESP,TOPMed
rs1294921248	p.Ser1974Tyr	missense variant	-	NC_000019.10:g.42362460C>A	gnomAD
NCI-TCGA novel	p.Arg1979Gln	missense variant	-	NC_000019.10:g.42362475G>A	NCI-TCGA
rs968400094	p.Arg1983Pro	missense variant	-	NC_000019.10:g.42362487G>C	TOPMed
rs756134457	p.Arg1983Ter	stop gained	-	NC_000019.10:g.42362486C>T	ExAC,gnomAD
rs1354182455	p.Glu1984Asp	missense variant	-	NC_000019.10:g.42362491G>T	gnomAD
rs144057511	p.Trp1987Arg	missense variant	-	NC_000019.10:g.42362498T>C	ESP,ExAC,TOPMed,gnomAD
rs1464021238	p.Ala1988Glu	missense variant	-	NC_000019.10:g.42362502C>A	TOPMed
rs1206428605	p.Glu1993Lys	missense variant	-	NC_000019.10:g.42362516G>A	TOPMed
rs1246408795	p.Ala1994Val	missense variant	-	NC_000019.10:g.42362520C>T	gnomAD
rs374797693	p.Ala1995Glu	missense variant	-	NC_000019.10:g.42362523C>A	ESP,ExAC,TOPMed,gnomAD
rs374797693	p.Ala1995Val	missense variant	-	NC_000019.10:g.42362523C>T	ESP,ExAC,TOPMed,gnomAD
rs1472106583	p.Gly1997Arg	missense variant	-	NC_000019.10:g.42362528G>A	gnomAD
rs1462549768	p.Ala1999Thr	missense variant	-	NC_000019.10:g.42362534G>A	gnomAD
NCI-TCGA novel	p.Cys2001Ser	missense variant	-	NC_000019.10:g.42362541G>C	NCI-TCGA
rs775608612	p.Glu2002Gln	missense variant	-	NC_000019.10:g.42362543G>C	ExAC,gnomAD
rs775608612	p.Glu2002Lys	missense variant	-	NC_000019.10:g.42362543G>A	ExAC,gnomAD
rs1297487496	p.Gln2003Ter	stop gained	-	NC_000019.10:g.42362546C>T	gnomAD
rs760653254	p.Thr2005Arg	missense variant	-	NC_000019.10:g.42362553C>G	ExAC,TOPMed,gnomAD
rs760653254	p.Thr2005Met	missense variant	-	NC_000019.10:g.42362553C>T	ExAC,TOPMed,gnomAD
rs750750960	p.Arg2006Gln	missense variant	-	NC_000019.10:g.42362556G>A	ExAC,TOPMed,gnomAD
rs762333959	p.Arg2006Trp	missense variant	-	NC_000019.10:g.42362555C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu2007Ter	stop gained	-	NC_000019.10:g.42362558G>T	NCI-TCGA
NCI-TCGA novel	p.Glu2007Gly	missense variant	-	NC_000019.10:g.42362559A>G	NCI-TCGA
rs1235208244	p.Glu2007Asp	missense variant	-	NC_000019.10:g.42362560G>C	TOPMed,gnomAD
NCI-TCGA novel	p.Lys2009SerPheSerTerUnkUnk	frameshift	-	NC_000019.10:g.42362563C>-	NCI-TCGA
rs1201099276	p.Lys2009Gln	missense variant	-	NC_000019.10:g.42362564A>C	gnomAD
rs759329751	p.Met2011Thr	missense variant	-	NC_000019.10:g.42362571T>C	ExAC,gnomAD
rs759329751	p.Met2011Arg	missense variant	-	NC_000019.10:g.42362571T>G	ExAC,gnomAD
rs1485671400	p.Thr2013Met	missense variant	-	NC_000019.10:g.42362577C>T	gnomAD
rs1264350303	p.Arg2014Trp	missense variant	-	NC_000019.10:g.42362579C>T	gnomAD
NCI-TCGA novel	p.Thr2019Ala	missense variant	-	NC_000019.10:g.42362594A>G	NCI-TCGA
RCV000530878	p.Thr2022Ala	missense variant	Carpenter syndrome 2 (CRPT2)	NC_000019.10:g.42363053A>G	ClinVar
rs779853780	p.Thr2022Ala	missense variant	-	NC_000019.10:g.42363053A>G	ExAC,TOPMed,gnomAD
rs779853780	p.Thr2022Pro	missense variant	-	NC_000019.10:g.42363053A>C	ExAC,TOPMed,gnomAD
rs747210470	p.Arg2023Cys	missense variant	-	NC_000019.10:g.42363056C>T	ExAC,TOPMed,gnomAD
rs1031435305	p.Arg2023His	missense variant	-	NC_000019.10:g.42363057G>A	TOPMed,gnomAD
rs1167959292	p.Arg2024His	missense variant	-	NC_000019.10:g.42363060G>A	gnomAD
rs755163904	p.Arg2024Cys	missense variant	-	NC_000019.10:g.42363059C>T	ExAC,gnomAD
rs1176712661	p.Ile2025Val	missense variant	-	NC_000019.10:g.42363062A>G	gnomAD
rs1420277864	p.Val2028Met	missense variant	-	NC_000019.10:g.42363071G>A	TOPMed
rs1365528958	p.Pro2030Ala	missense variant	-	NC_000019.10:g.42363077C>G	gnomAD
rs770471420	p.Thr2031Ala	missense variant	-	NC_000019.10:g.42363080A>G	ExAC,gnomAD
rs377486370	p.Thr2031Asn	missense variant	-	NC_000019.10:g.42363081C>A	ESP,ExAC,TOPMed,gnomAD
COSM6084867	p.Trp2034Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42363091G>T	NCI-TCGA Cosmic
rs749772025	p.Thr2035Met	missense variant	-	NC_000019.10:g.42363093C>T	ExAC,gnomAD
rs369680099	p.Ser2038Arg	missense variant	-	NC_000019.10:g.42363103C>G	ESP,ExAC,TOPMed,gnomAD
rs1263198399	p.Ser2040Cys	missense variant	-	NC_000019.10:g.42363108C>G	TOPMed,gnomAD
rs1213979956	p.Met2047Val	missense variant	-	NC_000019.10:g.42363128A>G	gnomAD
rs1254491176	p.Pro2048Leu	missense variant	-	NC_000019.10:g.42363132C>T	gnomAD
COSM1325228	p.Pro2048Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42363131C>T	NCI-TCGA Cosmic
rs1185731464	p.Val2049Met	missense variant	-	NC_000019.10:g.42363134G>A	gnomAD
rs1430269791	p.Glu2050Lys	missense variant	-	NC_000019.10:g.42363137G>A	gnomAD
rs984455722	p.Ser2051Leu	missense variant	-	NC_000019.10:g.42363141C>T	TOPMed
NCI-TCGA novel	p.Pro2054Ser	missense variant	-	NC_000019.10:g.42363149C>T	NCI-TCGA
rs1392437966	p.Pro2056Ser	missense variant	-	NC_000019.10:g.42363155C>T	gnomAD
rs758275007	p.Pro2060Ala	missense variant	-	NC_000019.10:g.42363167C>G	ExAC,gnomAD
rs766092293	p.Leu2063Arg	missense variant	-	NC_000019.10:g.42363177T>G	ExAC,gnomAD
rs1363040606	p.Pro2065Leu	missense variant	-	NC_000019.10:g.42363183C>T	gnomAD
rs940016728	p.Asn2066Ser	missense variant	-	NC_000019.10:g.42363186A>G	TOPMed,gnomAD
rs940016728	p.Asn2066Thr	missense variant	-	NC_000019.10:g.42363186A>C	TOPMed,gnomAD
rs1216867449	p.Asn2066His	missense variant	-	NC_000019.10:g.42363185A>C	TOPMed,gnomAD
rs1216867449	p.Asn2066Tyr	missense variant	-	NC_000019.10:g.42363185A>T	TOPMed,gnomAD
rs202175287	p.Leu2071Met	missense variant	-	NC_000019.10:g.42363200C>A	1000Genomes,ExAC,gnomAD
rs1180106059	p.Ala2076Val	missense variant	-	NC_000019.10:g.42363216C>T	gnomAD
rs777950047	p.Gly2079Asp	missense variant	-	NC_000019.10:g.42363225G>A	ExAC,gnomAD
rs985249124	p.Gln2081Lys	missense variant	-	NC_000019.10:g.42363230C>A	TOPMed,gnomAD
rs1399203080	p.Gln2081His	missense variant	-	NC_000019.10:g.42363232G>T	gnomAD
rs985249124	p.Gln2081Ter	stop gained	-	NC_000019.10:g.42363230C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Val2084Gly	missense variant	-	NC_000019.10:g.42363240T>G	NCI-TCGA
rs1432015265	p.Val2084Phe	missense variant	-	NC_000019.10:g.42363239G>T	TOPMed
rs1317861934	p.Ser2086Ile	missense variant	-	NC_000019.10:g.42363246G>T	gnomAD
rs771398845	p.Gln2090His	missense variant	-	NC_000019.10:g.42363259G>T	ExAC,gnomAD
rs1262769198	p.Gln2090Lys	missense variant	-	NC_000019.10:g.42363257C>A	gnomAD
rs779209679	p.Gln2091Arg	missense variant	-	NC_000019.10:g.42363261A>G	ExAC,gnomAD
rs1181199900	p.Leu2093Val	missense variant	-	NC_000019.10:g.42368458C>G	gnomAD
rs1233480579	p.Tyr2097His	missense variant	-	NC_000019.10:g.42368470T>C	gnomAD
NCI-TCGA novel	p.Leu2098Met	missense variant	-	NC_000019.10:g.42368473C>A	NCI-TCGA
rs1471300485	p.Pro2099Ser	missense variant	-	NC_000019.10:g.42368476C>T	TOPMed,gnomAD
RCV000678315	p.Pro2099Ser	missense variant	Carpenter syndrome 2 (CRPT2)	NC_000019.10:g.42368476C>T	ClinVar
rs888767107	p.Arg2101Pro	missense variant	-	NC_000019.10:g.42368483G>C	TOPMed,gnomAD
COSM459948	p.Arg2101Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42368482C>G	NCI-TCGA Cosmic
rs888767107	p.Arg2101Gln	missense variant	-	NC_000019.10:g.42368483G>A	TOPMed,gnomAD
rs764738722	p.Cys2102Ser	missense variant	-	NC_000019.10:g.42368486G>C	gnomAD
rs747804190	p.Cys2102Arg	missense variant	-	NC_000019.10:g.42368485T>C	ExAC,gnomAD
rs764738722	p.Cys2102Tyr	missense variant	-	NC_000019.10:g.42368486G>A	gnomAD
rs368780512	p.Met2103Val	missense variant	-	NC_000019.10:g.42368488A>G	ESP,ExAC,TOPMed,gnomAD
rs772768716	p.Ala2104Thr	missense variant	-	NC_000019.10:g.42368491G>A	ExAC,TOPMed,gnomAD
rs772768716	p.Ala2104Ser	missense variant	-	NC_000019.10:g.42368491G>T	ExAC,TOPMed,gnomAD
rs1438305896	p.Gly2105Arg	missense variant	-	NC_000019.10:g.42368494G>A	gnomAD
COSM321655	p.Gly2105Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42368495G>T	NCI-TCGA Cosmic
rs1021362118	p.Gly2106Asp	missense variant	-	NC_000019.10:g.42368498G>A	TOPMed
rs1302205730	p.Cys2107Tyr	missense variant	-	NC_000019.10:g.42368501G>A	gnomAD
rs1371529001	p.Arg2109Trp	missense variant	-	NC_000019.10:g.42368506C>T	gnomAD
rs1236212853	p.Leu2110Pro	missense variant	-	NC_000019.10:g.42368510T>C	gnomAD
rs1282840036	p.Leu2111Phe	missense variant	-	NC_000019.10:g.42368512C>T	TOPMed,gnomAD
rs770812017	p.Arg2112Trp	missense variant	-	NC_000019.10:g.42368515C>T	ExAC,TOPMed,gnomAD
rs139601509	p.Arg2112Gln	missense variant	-	NC_000019.10:g.42368516G>A	ESP,ExAC,TOPMed,gnomAD
rs1439609701	p.Gly2113Arg	missense variant	-	NC_000019.10:g.42368518G>A	gnomAD
rs759342849	p.Gly2113Glu	missense variant	-	NC_000019.10:g.42368519G>A	ExAC,gnomAD
rs752470473	p.Ser2118Phe	missense variant	-	NC_000019.10:g.42368534C>T	ExAC,TOPMed,gnomAD
rs546522308	p.Gly2120Ala	missense variant	-	NC_000019.10:g.42368540G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs761041438	p.Gly2120Ser	missense variant	-	NC_000019.10:g.42368539G>A	ExAC,gnomAD
rs1421081703	p.Cys2121Tyr	missense variant	-	NC_000019.10:g.42368543G>A	gnomAD
rs757392894	p.Ala2124Thr	missense variant	-	NC_000019.10:g.42368551G>A	ExAC,gnomAD
rs1442591413	p.Thr2125Ala	missense variant	-	NC_000019.10:g.42368554A>G	gnomAD
rs1187404385	p.Gln2126Glu	missense variant	-	NC_000019.10:g.42368557C>G	TOPMed
rs750958421	p.Ala2128Thr	missense variant	-	NC_000019.10:g.42368563G>A	ExAC,TOPMed,gnomAD
rs750958421	p.Ala2128Ser	missense variant	-	NC_000019.10:g.42368563G>T	ExAC,TOPMed,gnomAD
rs1271846035	p.Cys2130Phe	missense variant	-	NC_000019.10:g.42368570G>T	gnomAD
rs371194840	p.Arg2132Trp	missense variant	-	NC_000019.10:g.42368575C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201140958	p.Arg2132Gln	missense variant	-	NC_000019.10:g.42368576G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs755814245	p.Arg2133His	missense variant	-	NC_000019.10:g.42368579G>A	ExAC,TOPMed
rs373739098	p.Arg2133Cys	missense variant	-	NC_000019.10:g.42368578C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1330177881	p.His2135Tyr	missense variant	-	NC_000019.10:g.42368584C>T	TOPMed
rs984170779	p.Gly2137Ser	missense variant	-	NC_000019.10:g.42368590G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Trp2138Ter	stop gained	-	NC_000019.10:g.42368595G>A	NCI-TCGA
rs1194587409	p.Trp2138Ter	stop gained	-	NC_000019.10:g.42368594G>A	gnomAD
rs748851480	p.Cys2139Gly	missense variant	-	NC_000019.10:g.42368596T>G	ExAC,gnomAD
rs1163613191	p.Trp2141Cys	missense variant	-	NC_000019.10:g.42368604G>T	TOPMed,gnomAD
rs1474473575	p.Trp2141Leu	missense variant	-	NC_000019.10:g.42368603G>T	TOPMed,gnomAD
rs770495431	p.Gly2142Trp	missense variant	-	NC_000019.10:g.42368605G>T	ExAC,TOPMed,gnomAD
rs770495431	p.Gly2142Arg	missense variant	-	NC_000019.10:g.42368605G>C	ExAC,TOPMed,gnomAD
rs770495431	p.Gly2142Arg	missense variant	-	NC_000019.10:g.42368605G>A	ExAC,TOPMed,gnomAD
COSM1394169	p.Gly2143AlaPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000019.10:g.42368603G>-	NCI-TCGA Cosmic
rs1008199972	p.Gly2143Ser	missense variant	-	NC_000019.10:g.42368608G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Gln2144ProPheSerTerUnkUnk	frameshift	-	NC_000019.10:g.42368602_42368603insG	NCI-TCGA
rs1037202811	p.Gln2144His	missense variant	-	NC_000019.10:g.42368613G>C	TOPMed,gnomAD
rs1456559203	p.Gln2144Arg	missense variant	-	NC_000019.10:g.42368612A>G	TOPMed
rs760521667	p.Asp2145Asn	missense variant	-	NC_000019.10:g.42368614G>A	ExAC,gnomAD
NCI-TCGA novel	p.Gly2147ValPheSerTerUnkUnk	frameshift	-	NC_000019.10:g.42368617G>-	NCI-TCGA
RCV000658841	p.Gly2147Asp	missense variant	-	NC_000019.10:g.42368621G>A	ClinVar
rs763943694	p.Gly2147Val	missense variant	-	NC_000019.10:g.42368621G>T	ExAC,gnomAD
rs763943694	p.Gly2147Asp	missense variant	-	NC_000019.10:g.42368621G>A	ExAC,gnomAD
NCI-TCGA novel	p.Gly2148Asp	missense variant	-	NC_000019.10:g.42368624G>A	NCI-TCGA
rs367975745	p.Arg2149Cys	missense variant	-	NC_000019.10:g.42368626C>T	ESP,TOPMed,gnomAD
rs1292779422	p.Arg2149His	missense variant	-	NC_000019.10:g.42368627G>A	gnomAD
rs1292779422	p.Arg2149Leu	missense variant	-	NC_000019.10:g.42368627G>T	gnomAD
rs1183714556	p.Met2151Ile	missense variant	-	NC_000019.10:g.42368634G>A	gnomAD
NCI-TCGA novel	p.Gly2154Glu	missense variant	-	NC_000019.10:g.42368642G>A	NCI-TCGA
rs777017940	p.Gly2154Arg	missense variant	-	NC_000019.10:g.42368641G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu2155Arg	missense variant	-	NC_000019.10:g.42368645T>G	NCI-TCGA
rs549617171	p.Gly2157Ser	missense variant	-	NC_000019.10:g.42368650G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs750465936	p.Pro2158Ser	missense variant	-	NC_000019.10:g.42368653C>T	ExAC,TOPMed,gnomAD
rs201858033	p.Arg2159Ser	missense variant	-	NC_000019.10:g.42368656C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs751962550	p.Arg2159His	missense variant	-	NC_000019.10:g.42368657G>A	ExAC,TOPMed,gnomAD
rs201858033	p.Arg2159Cys	missense variant	-	NC_000019.10:g.42368656C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs201858033	p.Arg2159Gly	missense variant	-	NC_000019.10:g.42368656C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs755365009	p.Asp2160His	missense variant	-	NC_000019.10:g.42368659G>C	ExAC,TOPMed,gnomAD
rs765365135	p.Leu2162Met	missense variant	-	NC_000019.10:g.42368845C>A	ExAC,gnomAD
rs1460348332	p.Arg2166Cys	missense variant	-	NC_000019.10:g.42368857C>T	TOPMed,gnomAD
rs370984978	p.Arg2166His	missense variant	-	NC_000019.10:g.42368858G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro2167Ser	missense variant	-	NC_000019.10:g.42368860C>T	NCI-TCGA
rs372350131	p.Pro2167Leu	missense variant	-	NC_000019.10:g.42368861C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs752081500	p.Ala2169Thr	missense variant	-	NC_000019.10:g.42368866G>A	ExAC,gnomAD
rs755820029	p.Ala2169Val	missense variant	-	NC_000019.10:g.42368867C>T	ExAC,gnomAD
rs1304558393	p.Ala2172Asp	missense variant	-	NC_000019.10:g.42368876C>A	gnomAD
rs2288922	p.Phe2173Leu	missense variant	-	NC_000019.10:g.42368880C>G	ExAC,TOPMed,gnomAD
rs575829700	p.Pro2178Arg	missense variant	-	NC_000019.10:g.42368894C>G	1000Genomes,ExAC,gnomAD
rs758007636	p.Pro2178Ala	missense variant	-	NC_000019.10:g.42368893C>G	ExAC,gnomAD
rs758007636	p.Pro2178Thr	missense variant	-	NC_000019.10:g.42368893C>A	ExAC,gnomAD
rs575829700	p.Pro2178Leu	missense variant	-	NC_000019.10:g.42368894C>T	1000Genomes,ExAC,gnomAD
rs575829700	p.Pro2178His	missense variant	-	NC_000019.10:g.42368894C>A	1000Genomes,ExAC,gnomAD
rs536792549	p.Ala2183Ser	missense variant	-	NC_000019.10:g.42368908G>T	1000Genomes,ExAC
rs1183931335	p.Gly2185Arg	missense variant	-	NC_000019.10:g.42368914G>A	TOPMed
rs374088709	p.Asp2188Asn	missense variant	-	NC_000019.10:g.42368923G>A	ESP,ExAC,TOPMed,gnomAD
rs760101944	p.Asn2190Asp	missense variant	-	NC_000019.10:g.42368929A>G	ExAC,gnomAD
rs767893103	p.Asn2190Lys	missense variant	-	NC_000019.10:g.42368931C>A	ExAC,TOPMed,gnomAD
rs760913754	p.Glu2191Lys	missense variant	-	NC_000019.10:g.42368932G>A	ExAC,gnomAD
rs764477325	p.Glu2191Asp	missense variant	-	NC_000019.10:g.42368934G>T	ExAC,gnomAD
rs367956687	p.Thr2192Met	missense variant	-	NC_000019.10:g.42368936C>T	ESP,ExAC,gnomAD
rs779780127	p.Asn2194Ser	missense variant	-	NC_000019.10:g.42368942A>G	ExAC,gnomAD
rs1270666990	p.Cys2195Tyr	missense variant	-	NC_000019.10:g.42368945G>A	gnomAD
COSM4078766	p.Cys2195Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42368944T>C	NCI-TCGA Cosmic
rs755014441	p.Asp2197Asn	missense variant	-	NC_000019.10:g.42368950G>A	ExAC,gnomAD
rs1248294920	p.Pro2199Arg	missense variant	-	NC_000019.10:g.42368957C>G	gnomAD
rs1185927737	p.Gly2201Cys	missense variant	-	NC_000019.10:g.42368962G>T	gnomAD
rs1348424828	p.Cys2204Tyr	missense variant	-	NC_000019.10:g.42368972G>A	TOPMed
rs1172940657	p.Lys2207Glu	missense variant	-	NC_000019.10:g.42368980A>G	gnomAD
rs374178667	p.Thr2208Ile	missense variant	-	NC_000019.10:g.42368984C>T	ESP,ExAC,TOPMed,gnomAD
rs771136518	p.Gly2209Ser	missense variant	-	NC_000019.10:g.42368986G>A	ExAC,gnomAD
rs1332338461	p.Met2212Thr	missense variant	-	NC_000019.10:g.42368996T>C	TOPMed
rs765658058	p.Met2215Ile	missense variant	-	NC_000019.10:g.42369534G>A	ExAC,TOPMed,gnomAD
rs765658058	p.Met2215Ile	missense variant	-	NC_000019.10:g.42369534G>C	ExAC,TOPMed,gnomAD
rs762237400	p.Met2215Val	missense variant	-	NC_000019.10:g.42369532A>G	ExAC,TOPMed,gnomAD
rs1381383504	p.Met2215Thr	missense variant	-	NC_000019.10:g.42369533T>C	gnomAD
rs1376370027	p.Gly2217Arg	missense variant	-	NC_000019.10:g.42369538G>A	TOPMed
rs759172296	p.Arg2220Cys	missense variant	-	NC_000019.10:g.42369547C>T	ExAC,gnomAD
rs370288131	p.Arg2220His	missense variant	-	NC_000019.10:g.42369548G>A	ESP,ExAC,gnomAD
rs767906925	p.Ala2224Thr	missense variant	-	NC_000019.10:g.42369559G>A	ExAC,TOPMed,gnomAD
rs753669734	p.Gly2226Asp	missense variant	-	NC_000019.10:g.42369566G>A	ExAC,gnomAD
rs757071241	p.Val2228Met	missense variant	-	NC_000019.10:g.42369571G>A	ExAC,TOPMed,gnomAD
rs747093369	p.Asp2236Asn	missense variant	-	NC_000019.10:g.42369595G>A	ExAC,TOPMed,gnomAD
rs1478668495	p.Cys2238Ter	stop gained	-	NC_000019.10:g.42369603C>A	gnomAD
rs777310098	p.Cys2238Ser	missense variant	-	NC_000019.10:g.42369602G>C	ExAC,gnomAD
RCV000678316	p.Arg2239Cys	missense variant	Carpenter syndrome 2 (CRPT2)	NC_000019.10:g.42369604C>T	ClinVar
rs532673964	p.Arg2239Leu	missense variant	-	NC_000019.10:g.42369605G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1174809027	p.Arg2239Cys	missense variant	-	NC_000019.10:g.42369604C>T	gnomAD
rs532673964	p.Arg2239His	missense variant	-	NC_000019.10:g.42369605G>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Cys2240Arg	missense variant	-	NC_000019.10:g.42369607T>C	NCI-TCGA
rs985549258	p.His2241Tyr	missense variant	-	NC_000019.10:g.42369610C>T	TOPMed
rs1486417802	p.Phe2242Leu	missense variant	-	NC_000019.10:g.42369615T>G	TOPMed
rs376399763	p.Val2245Leu	missense variant	-	NC_000019.10:g.42369622G>C	ESP,ExAC,TOPMed,gnomAD
rs767184727	p.Arg2247His	missense variant	-	NC_000019.10:g.42369629G>A	ExAC,TOPMed,gnomAD
rs1438199181	p.Arg2247Cys	missense variant	-	NC_000019.10:g.42369628C>T	gnomAD
rs767184727	p.Arg2247Pro	missense variant	-	NC_000019.10:g.42369629G>C	ExAC,TOPMed,gnomAD
rs1331439867	p.Ser2250Ala	missense variant	-	NC_000019.10:g.42369637T>G	gnomAD
rs370225382	p.Thr2251Met	missense variant	-	NC_000019.10:g.42369641C>T	ESP,ExAC,TOPMed,gnomAD
rs750817882	p.Arg2254Ser	missense variant	-	NC_000019.10:g.42369649C>A	ExAC,TOPMed,gnomAD
rs761677916	p.Arg2254Leu	missense variant	-	NC_000019.10:g.42369650G>T	ExAC,TOPMed,gnomAD
rs761677916	p.Arg2254His	missense variant	-	NC_000019.10:g.42369650G>A	ExAC,TOPMed,gnomAD
rs750817882	p.Arg2254Cys	missense variant	-	NC_000019.10:g.42369649C>T	ExAC,TOPMed,gnomAD
rs1320315711	p.Cys2255Tyr	missense variant	-	NC_000019.10:g.42369653G>A	gnomAD
rs1258739972	p.Cys2255Arg	missense variant	-	NC_000019.10:g.42369652T>C	gnomAD
rs376007307	p.Arg2257His	missense variant	-	NC_000019.10:g.42369659G>A	ESP,ExAC,TOPMed,gnomAD
rs988923991	p.Arg2257Cys	missense variant	-	NC_000019.10:g.42369658C>T	TOPMed
rs1293091099	p.Glu2260Ala	missense variant	-	NC_000019.10:g.42369668A>C	TOPMed
rs1452540189	p.Cys2261Tyr	missense variant	-	NC_000019.10:g.42369671G>A	gnomAD
rs780296443	p.Ala2262Thr	missense variant	-	NC_000019.10:g.42369673G>A	ExAC,gnomAD
rs368451814	p.Ala2266Val	missense variant	-	NC_000019.10:g.42369686C>T	ESP,ExAC,gnomAD
rs201847832	p.Arg2267His	missense variant	-	NC_000019.10:g.42369689G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1391255708	p.His2269Gln	missense variant	-	NC_000019.10:g.42369696C>G	gnomAD
COSM3823238	p.Cys2270Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42369698G>A	NCI-TCGA Cosmic
rs748672158	p.Leu2272Pro	missense variant	-	NC_000019.10:g.42369704T>C	ExAC,gnomAD
rs770418164	p.Arg2274Cys	missense variant	-	NC_000019.10:g.42369709C>T	ExAC,gnomAD
rs73554568	p.Arg2274His	missense variant	-	NC_000019.10:g.42369710G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs752807945	p.Gly2279Ala	missense variant	-	NC_000019.10:g.42370190G>C	ExAC,gnomAD
NCI-TCGA novel	p.Glu2283Lys	missense variant	-	NC_000019.10:g.42370201G>A	NCI-TCGA
rs1449289672	p.Gln2284His	missense variant	-	NC_000019.10:g.42370206G>C	gnomAD
rs370379302	p.Leu2286Phe	missense variant	-	NC_000019.10:g.42370210C>T	ESP,ExAC,gnomAD
COSM3892711	p.Pro2287Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42370213C>T	NCI-TCGA Cosmic
rs778308144	p.Pro2287Leu	missense variant	-	NC_000019.10:g.42370214C>T	ExAC,TOPMed,gnomAD
rs1425230368	p.Ser2292Leu	missense variant	-	NC_000019.10:g.42370229C>T	gnomAD
rs1179202451	p.Ala2293Ser	missense variant	-	NC_000019.10:g.42370231G>T	gnomAD
rs1451297110	p.Gly2295Glu	missense variant	-	NC_000019.10:g.42370238G>A	TOPMed
rs1430283740	p.Gly2295Arg	missense variant	-	NC_000019.10:g.42370237G>A	gnomAD
rs768286057	p.Gly2297Glu	missense variant	-	NC_000019.10:g.42370244G>A	ExAC,gnomAD
rs1160168661	p.Gly2297Arg	missense variant	-	NC_000019.10:g.42370243G>A	gnomAD
rs776168721	p.Thr2298Pro	missense variant	-	NC_000019.10:g.42370246A>C	ExAC,gnomAD
rs563329836	p.Arg2300Trp	missense variant	-	NC_000019.10:g.42370252C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs769253504	p.Arg2300Gln	missense variant	-	NC_000019.10:g.42370253G>A	ExAC,gnomAD
COSM6150866	p.Arg2300Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42370253G>T	NCI-TCGA Cosmic
rs530864821	p.Pro2301Ser	missense variant	-	NC_000019.10:g.42370255C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala2304Ser	missense variant	-	NC_000019.10:g.42370264G>T	NCI-TCGA
rs528281178	p.Ala2304Asp	missense variant	-	NC_000019.10:g.42370265C>A	1000Genomes,ExAC,gnomAD
rs185811990	p.Ala2304Thr	missense variant	-	NC_000019.10:g.42370264G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1483941905	p.Phe2305Leu	missense variant	-	NC_000019.10:g.42370267T>C	gnomAD
NCI-TCGA novel	p.Arg2307Ser	missense variant	-	NC_000019.10:g.42370273C>A	NCI-TCGA
rs142506261	p.Arg2307His	missense variant	-	NC_000019.10:g.42370274G>A	ESP,ExAC,TOPMed,gnomAD
rs142506261	p.Arg2307Pro	missense variant	-	NC_000019.10:g.42370274G>C	ESP,ExAC,TOPMed,gnomAD
rs142506261	p.Arg2307Leu	missense variant	-	NC_000019.10:g.42370274G>T	ESP,ExAC,TOPMed,gnomAD
COSM3692822	p.Arg2307Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42370273C>T	NCI-TCGA Cosmic
rs1237193633	p.Gly2308Glu	missense variant	-	NC_000019.10:g.42370277G>A	gnomAD
rs150940603	p.His2311Tyr	missense variant	-	NC_000019.10:g.42370285C>T	ESP,ExAC,TOPMed,gnomAD
rs142042363	p.Ile2312Val	missense variant	-	NC_000019.10:g.42370288A>G	ESP,ExAC,TOPMed,gnomAD
rs1002396731	p.Cys2313Ter	stop gained	-	NC_000019.10:g.42370293C>A	TOPMed
rs754382502	p.Ile2314Thr	missense variant	-	NC_000019.10:g.42370295T>C	ExAC,gnomAD
rs757636417	p.Ser2315Tyr	missense variant	-	NC_000019.10:g.42370298C>A	ExAC,TOPMed,gnomAD
rs373842617	p.Arg2316Lys	missense variant	-	NC_000019.10:g.42370301G>A	ESP,ExAC,gnomAD
rs1467644289	p.Lys2317Met	missense variant	-	NC_000019.10:g.42370304A>T	gnomAD
rs1399867711	p.Ser2322Phe	missense variant	-	NC_000019.10:g.42370319C>T	gnomAD
rs377068929	p.Gly2324Glu	missense variant	-	NC_000019.10:g.42370325G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs370364807	p.Glu2325Asp	missense variant	-	NC_000019.10:g.42370329G>C	ESP,ExAC,TOPMed,gnomAD
COSM997423	p.Glu2325Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42370327G>A	NCI-TCGA Cosmic
rs370364807	p.Glu2325Asp	missense variant	-	NC_000019.10:g.42370329G>T	ESP,ExAC,TOPMed,gnomAD
rs1386766514	p.Ser2330Pro	missense variant	-	NC_000019.10:g.42370342T>C	gnomAD
rs1302584295	p.Asp2332Asn	missense variant	-	NC_000019.10:g.42370348G>A	gnomAD
COSM5174036	p.Glu2335Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42370359G>C	NCI-TCGA Cosmic
rs765632405	p.Ile2336Met	missense variant	-	NC_000019.10:g.42370703T>G	ExAC,TOPMed,gnomAD
rs1195856343	p.Glu2337Gln	missense variant	-	NC_000019.10:g.42370704G>C	gnomAD
NCI-TCGA novel	p.Asn2338Ile	missense variant	-	NC_000019.10:g.42370708A>T	NCI-TCGA
rs1411920397	p.Asn2338Ser	missense variant	-	NC_000019.10:g.42370708A>G	gnomAD
rs537788689	p.Asn2338Lys	missense variant	-	NC_000019.10:g.42370709C>G	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Trp2339Arg	missense variant	-	NC_000019.10:g.42370710T>A	NCI-TCGA
rs1165960887	p.Trp2339Arg	missense variant	-	NC_000019.10:g.42370710T>C	gnomAD
rs1260167899	p.Val2340Ala	missense variant	-	NC_000019.10:g.42370714T>C	TOPMed
rs367851164	p.Val2340Met	missense variant	-	NC_000019.10:g.42370713G>A	ESP,gnomAD
rs367851164	p.Val2340Leu	missense variant	-	NC_000019.10:g.42370713G>T	ESP,gnomAD
rs1418457844	p.Thr2341Lys	missense variant	-	NC_000019.10:g.42370717C>A	gnomAD
rs1418457844	p.Thr2341Ile	missense variant	-	NC_000019.10:g.42370717C>T	gnomAD
rs1298106714	p.Glu2342Gln	missense variant	-	NC_000019.10:g.42370719G>C	gnomAD
rs1290840696	p.Pro2344Arg	missense variant	-	NC_000019.10:g.42370726C>G	gnomAD
rs1401312523	p.Pro2344Ala	missense variant	-	NC_000019.10:g.42370725C>G	gnomAD
rs1378032072	p.Ser2345Asn	missense variant	-	NC_000019.10:g.42370729G>A	gnomAD
rs1016429941	p.Ser2345Gly	missense variant	-	NC_000019.10:g.42370728A>G	TOPMed
rs1314672093	p.Glu2346Lys	missense variant	-	NC_000019.10:g.42370731G>A	gnomAD
rs1314898378	p.Glu2346Asp	missense variant	-	NC_000019.10:g.42370733A>T	gnomAD
rs147708727	p.Glu2348Lys	missense variant	-	NC_000019.10:g.42370737G>A	ESP,ExAC,TOPMed,gnomAD
rs747807960	p.Ala2349Gly	missense variant	-	NC_000019.10:g.42370741C>G	ExAC,gnomAD
rs1470564735	p.Ala2349Thr	missense variant	-	NC_000019.10:g.42370740G>A	gnomAD
rs73033442	p.Val2350Met	missense variant	-	NC_000019.10:g.42370743G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000534125	p.Val2352Met	missense variant	Carpenter syndrome 2 (CRPT2)	NC_000019.10:g.42370749G>A	ClinVar
rs112167630	p.Val2352Met	missense variant	-	NC_000019.10:g.42370749G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1438216876	p.Cys2354Tyr	missense variant	-	NC_000019.10:g.42370756G>A	gnomAD
rs1293234412	p.Gln2355His	missense variant	-	NC_000019.10:g.42370760G>T	TOPMed
rs745748127	p.Gln2355Glu	missense variant	-	NC_000019.10:g.42370758C>G	ExAC,gnomAD
rs143643113	p.Tyr2359Cys	missense variant	-	NC_000019.10:g.42370771A>G	ESP,ExAC,TOPMed,gnomAD
rs1239177939	p.Glu2364Gly	missense variant	-	NC_000019.10:g.42370786A>G	gnomAD
rs1370643779	p.Glu2364Lys	missense variant	-	NC_000019.10:g.42370785G>A	TOPMed,gnomAD
rs1231948998	p.Leu2367Gln	missense variant	-	NC_000019.10:g.42370795T>A	gnomAD
rs1239176672	p.Gln2368Pro	missense variant	-	NC_000019.10:g.42370798A>C	gnomAD
rs1279456511	p.Tyr2370Ser	missense variant	-	NC_000019.10:g.42370804A>C	TOPMed,gnomAD
rs765312333	p.Asp2374Glu	missense variant	-	NC_000019.10:g.42370817C>A	ExAC,TOPMed,gnomAD
rs1178433906	p.Gly2375Arg	missense variant	-	NC_000019.10:g.42370818G>A	gnomAD
rs1198259417	p.Thr2378Ala	missense variant	-	NC_000019.10:g.42370827A>G	TOPMed
rs1239139047	p.Thr2378Asn	missense variant	-	NC_000019.10:g.42370828C>A	TOPMed,gnomAD
NCI-TCGA novel	p.Asn2383Ser	missense variant	-	NC_000019.10:g.42371361A>G	NCI-TCGA
rs1477205635	p.Gly2384Val	missense variant	-	NC_000019.10:g.42371364G>T	gnomAD
rs1425341413	p.Ala2386Thr	missense variant	-	NC_000019.10:g.42371369G>A	TOPMed,gnomAD
rs372558876	p.Ala2386Val	missense variant	-	NC_000019.10:g.42371370C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp2387Asn	missense variant	-	NC_000019.10:g.42371372G>A	NCI-TCGA
rs1194659954	p.Thr2388Ile	missense variant	-	NC_000019.10:g.42371376C>T	TOPMed
rs1490205807	p.Cys2389Tyr	missense variant	-	NC_000019.10:g.42371379G>A	TOPMed
rs1391143394	p.Cys2389Arg	missense variant	-	NC_000019.10:g.42371378T>C	gnomAD
rs750058084	p.Glu2391Lys	missense variant	-	NC_000019.10:g.42371384G>A	ExAC,TOPMed,gnomAD
COSM6150863	p.Gln2392Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42371388A>T	NCI-TCGA Cosmic
rs1225341191	p.Gln2392Pro	missense variant	-	NC_000019.10:g.42371388A>C	TOPMed
rs758007485	p.Thr2395Met	missense variant	-	NC_000019.10:g.42371397C>T	ExAC,TOPMed,gnomAD
rs765931068	p.Cys2397Tyr	missense variant	-	NC_000019.10:g.42371403G>A	ExAC,gnomAD
rs1242846195	p.Thr2403Ile	missense variant	-	NC_000019.10:g.42371421C>T	gnomAD
rs142829766	p.Thr2405Met	missense variant	-	NC_000019.10:g.42371427C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1284505796	p.Gly2406Ala	missense variant	-	NC_000019.10:g.42371430G>C	gnomAD
rs1248883343	p.Gly2406Arg	missense variant	-	NC_000019.10:g.42371429G>C	gnomAD
rs1216731800	p.Ser2411Gly	missense variant	-	NC_000019.10:g.42371444A>G	gnomAD
rs1264655814	p.Ser2412Thr	missense variant	-	NC_000019.10:g.42371447T>A	gnomAD
rs1440375672	p.Pro2413Leu	missense variant	-	NC_000019.10:g.42371451C>T	gnomAD
COSM4851832	p.Asp2415Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42371456G>A	NCI-TCGA Cosmic
rs756370726	p.Arg2416Leu	missense variant	-	NC_000019.10:g.42371460G>T	ExAC,gnomAD
rs747955335	p.Arg2416Cys	missense variant	-	NC_000019.10:g.42371459C>T	ExAC,TOPMed,gnomAD
rs756370726	p.Arg2416His	missense variant	-	NC_000019.10:g.42371460G>A	ExAC,gnomAD
rs777998313	p.Arg2417Gln	missense variant	-	NC_000019.10:g.42371463G>A	ExAC,gnomAD
COSM1481145	p.Arg2417Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000019.10:g.42371462C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asp2418His	missense variant	-	NC_000019.10:g.42371465G>C	NCI-TCGA
rs1218937263	p.Tyr2420Ter	stop gained	-	NC_000019.10:g.42371473C>G	TOPMed
rs1379641519	p.Tyr2420His	missense variant	-	NC_000019.10:g.42371471T>C	TOPMed,gnomAD
COSM3534788	p.Gln2423Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42371481A>G	NCI-TCGA Cosmic
rs1231919315	p.Cys2424Arg	missense variant	-	NC_000019.10:g.42375507T>C	gnomAD
rs113822011	p.Cys2424Trp	missense variant	-	NC_000019.10:g.42375509C>G	ESP,ExAC,TOPMed,gnomAD
rs146094970	p.Ala2425Thr	missense variant	-	NC_000019.10:g.42375510G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1458040146	p.Arg2428Gln	missense variant	-	NC_000019.10:g.42375520G>A	gnomAD
rs1257255407	p.Arg2428Trp	missense variant	-	NC_000019.10:g.42375519C>T	gnomAD
NCI-TCGA novel	p.His2432Asn	missense variant	-	NC_000019.10:g.42375531C>A	NCI-TCGA
rs1297965523	p.Gly2433Arg	missense variant	-	NC_000019.10:g.42375534G>A	TOPMed
RCV000033073	p.Ser2434Gly	missense variant	Carpenter syndrome 2 (CRPT2)	NC_000019.10:g.42375537A>G	ClinVar
rs397515428	p.Ser2434Gly	missense variant	Carpenter syndrome 2 (CRPT2)	NC_000019.10:g.42375537A>G	UniProt,dbSNP
VAR_069307	p.Ser2434Gly	missense variant	Carpenter syndrome 2 (CRPT2)	NC_000019.10:g.42375537A>G	UniProt
rs397515428	p.Ser2434Gly	missense variant	-	NC_000019.10:g.42375537A>G	-
rs769146702	p.Pro2435Leu	missense variant	-	NC_000019.10:g.42375541C>T	ExAC,gnomAD
rs1198291243	p.Leu2436Met	missense variant	-	NC_000019.10:g.42375543C>A	gnomAD
rs1471107514	p.Gly2437Ser	missense variant	-	NC_000019.10:g.42375546G>A	gnomAD
rs773776672	p.Gly2438Ser	missense variant	-	NC_000019.10:g.42375549G>A	ExAC,TOPMed,gnomAD
rs1458314829	p.Gln2439Arg	missense variant	-	NC_000019.10:g.42375553A>G	TOPMed
NCI-TCGA novel	p.Cys2441Arg	missense variant	-	NC_000019.10:g.42375558T>C	NCI-TCGA
rs759121016	p.Tyr2442Phe	missense variant	-	NC_000019.10:g.42375562A>T	ExAC,gnomAD
rs766886630	p.Arg2443Cys	missense variant	-	NC_000019.10:g.42375564C>T	ExAC,TOPMed,gnomAD
rs1301416363	p.Leu2444Pro	missense variant	-	NC_000019.10:g.42375568T>C	TOPMed,gnomAD
rs373259008	p.Ile2445Met	missense variant	-	NC_000019.10:g.42375572C>G	ESP,ExAC,TOPMed,gnomAD
rs1216480538	p.Ser2446Leu	missense variant	-	NC_000019.10:g.42375574C>T	gnomAD
rs760535193	p.Val2447Leu	missense variant	-	NC_000019.10:g.42375576G>T	ExAC,gnomAD
rs1263417740	p.Gln2449Ter	stop gained	-	NC_000019.10:g.42375582C>T	gnomAD
rs1224188811	p.Glu2450Gln	missense variant	-	NC_000019.10:g.42375585G>C	gnomAD
rs763940342	p.Cys2452Tyr	missense variant	-	NC_000019.10:g.42375592G>A	ExAC,TOPMed,gnomAD
rs753615923	p.Pro2455Ser	missense variant	-	NC_000019.10:g.42375600C>T	ExAC,gnomAD
rs1282806420	p.Pro2455Leu	missense variant	-	NC_000019.10:g.42375601C>T	gnomAD
rs757470081	p.Thr2456Met	missense variant	-	NC_000019.10:g.42375604C>T	ExAC,TOPMed,gnomAD
rs757470081	p.Thr2456Lys	missense variant	-	NC_000019.10:g.42375604C>A	ExAC,TOPMed,gnomAD
rs758520252	p.Thr2459Ile	missense variant	-	NC_000019.10:g.42375613C>T	ExAC,gnomAD
rs779934071	p.Asn2460Ser	missense variant	-	NC_000019.10:g.42375616A>G	ExAC,gnomAD
rs1457891573	p.Asn2460Tyr	missense variant	-	NC_000019.10:g.42375615A>T	gnomAD
RCV000558733	p.Arg2467His	missense variant	Carpenter syndrome 2 (CRPT2)	NC_000019.10:g.42375637G>A	ClinVar
rs757739507	p.Arg2467Leu	missense variant	-	NC_000019.10:g.42375637G>T	ExAC,TOPMed,gnomAD
rs757739507	p.Arg2467His	missense variant	-	NC_000019.10:g.42375637G>A	ExAC,TOPMed,gnomAD
rs769273382	p.Arg2467Cys	missense variant	-	NC_000019.10:g.42375636C>T	ExAC,gnomAD
rs949896957	p.Arg2468Trp	missense variant	-	NC_000019.10:g.42375639C>T	gnomAD
rs774072433	p.Arg2468Gln	missense variant	-	NC_000019.10:g.42375640G>A	ExAC,TOPMed,gnomAD
rs759050174	p.Ala2469Val	missense variant	-	NC_000019.10:g.42375643C>T	ExAC,TOPMed,gnomAD
rs558569357	p.Gly2471Ser	missense variant	-	NC_000019.10:g.42375648G>A	1000Genomes,ExAC,gnomAD
rs763997439	p.Gly2473Ser	missense variant	-	NC_000019.10:g.42375654G>A	ExAC,gnomAD
RCV000537054	p.Arg2474His	missense variant	Carpenter syndrome 2 (CRPT2)	NC_000019.10:g.42375658G>A	ClinVar
rs45623135	p.Arg2474Leu	missense variant	-	NC_000019.10:g.42375658G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs753671779	p.Arg2474Cys	missense variant	-	NC_000019.10:g.42375657C>T	ExAC,TOPMed,gnomAD
rs45623135	p.Arg2474His	missense variant	-	NC_000019.10:g.42375658G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1370990678	p.Thr2475Ala	missense variant	-	NC_000019.10:g.42375660A>G	TOPMed
rs1216649356	p.Leu2477Phe	missense variant	-	NC_000019.10:g.42375666C>T	TOPMed
rs764884283	p.Leu2477Pro	missense variant	-	NC_000019.10:g.42375667T>C	ExAC,TOPMed,gnomAD
rs1387663472	p.Gly2479Ser	missense variant	-	NC_000019.10:g.42375672G>A	gnomAD
rs766625279	p.Val2480Leu	missense variant	-	NC_000019.10:g.42375675G>C	ExAC,TOPMed,gnomAD
rs766625279	p.Val2480Met	missense variant	-	NC_000019.10:g.42375675G>A	ExAC,TOPMed,gnomAD
COSM4078769	p.Val2487Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42375696G>A	NCI-TCGA Cosmic
rs755585384	p.Ile2489Val	missense variant	-	NC_000019.10:g.42375702A>G	ExAC,gnomAD
rs781773462	p.Ile2489Met	missense variant	-	NC_000019.10:g.42375704C>G	ExAC,TOPMed,gnomAD
rs368024107	p.Arg2490Cys	missense variant	-	NC_000019.10:g.42375705C>T	ESP,ExAC,TOPMed,gnomAD
rs756510671	p.Arg2490Leu	missense variant	-	NC_000019.10:g.42375706G>T	ExAC,TOPMed,gnomAD
rs756510671	p.Arg2490His	missense variant	-	NC_000019.10:g.42375706G>A	ExAC,TOPMed,gnomAD
rs1209187631	p.Thr2492Pro	missense variant	-	NC_000019.10:g.42375711A>C	TOPMed
rs745598545	p.Thr2492Met	missense variant	-	NC_000019.10:g.42375712C>T	ExAC,TOPMed,gnomAD
rs376078071	p.Val2495Met	missense variant	-	NC_000019.10:g.42375720G>A	ESP,ExAC,TOPMed,gnomAD
rs554506062	p.Gly2498Arg	missense variant	-	NC_000019.10:g.42375729G>A	1000Genomes,ExAC,gnomAD
rs1158561358	p.Ala2499Ser	missense variant	-	NC_000019.10:g.42375732G>T	gnomAD
rs1405711225	p.Val2500Leu	missense variant	-	NC_000019.10:g.42375735G>C	TOPMed,gnomAD
rs1394132563	p.Tyr2503Phe	missense variant	-	NC_000019.10:g.42375745A>T	TOPMed
rs772871276	p.Val2504Ile	missense variant	-	NC_000019.10:g.42375747G>A	ExAC,gnomAD
rs763286751	p.Tyr2508Cys	missense variant	-	NC_000019.10:g.42375760A>G	ExAC,gnomAD
rs1358249219	p.Asp2509Gly	missense variant	-	NC_000019.10:g.42375763A>G	gnomAD
rs1358249219	p.Asp2509Val	missense variant	-	NC_000019.10:g.42375763A>T	gnomAD
rs1453120838	p.Thr2510Asn	missense variant	-	NC_000019.10:g.42375766C>A	TOPMed
rs150782421	p.Val2512Leu	missense variant	-	NC_000019.10:g.42375771G>T	ESP,ExAC,TOPMed,gnomAD
rs150782421	p.Val2512Met	missense variant	-	NC_000019.10:g.42375771G>A	ESP,ExAC,TOPMed,gnomAD
rs369692848	p.Arg2514His	missense variant	-	NC_000019.10:g.42375778G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs369692848	p.Arg2514Leu	missense variant	-	NC_000019.10:g.42375778G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs753248304	p.Arg2514Cys	missense variant	-	NC_000019.10:g.42375777C>T	ExAC,gnomAD
rs1276546861	p.Val2515Ala	missense variant	-	NC_000019.10:g.42375781T>C	TOPMed,gnomAD
rs1311873941	p.Ala2516Thr	missense variant	-	NC_000019.10:g.42375783G>A	gnomAD
rs1444557476	p.Ala2516Val	missense variant	-	NC_000019.10:g.42375784C>T	TOPMed
NCI-TCGA novel	p.Pro2517Leu	missense variant	-	NC_000019.10:g.42375787C>T	NCI-TCGA
COSM4078775	p.Pro2517Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42375786C>A	NCI-TCGA Cosmic
rs1225574443	p.Pro2517Ala	missense variant	-	NC_000019.10:g.42375786C>G	gnomAD
rs749592583	p.Asp2518Glu	missense variant	-	NC_000019.10:g.42375791C>G	ExAC,gnomAD
rs1257792647	p.Asp2518Asn	missense variant	-	NC_000019.10:g.42375789G>A	TOPMed
rs758084935	p.Gly2520Asp	missense variant	-	NC_000019.10:g.42375796G>A	ExAC,gnomAD
rs746615045	p.Val2521Ile	missense variant	-	NC_000019.10:g.42375798G>A	ExAC,TOPMed,gnomAD
rs1265651059	p.His2522Gln	missense variant	-	NC_000019.10:g.42375803T>A	TOPMed
rs139192223	p.Thr2523Ala	missense variant	-	NC_000019.10:g.42375804A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs377601737	p.His2525Leu	missense variant	-	NC_000019.10:g.42375811A>T	ESP,ExAC,TOPMed,gnomAD
rs531863035	p.His2525Tyr	missense variant	-	NC_000019.10:g.42375810C>T	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Ile2526Met	missense variant	-	NC_000019.10:g.42375815C>G	NCI-TCGA
rs1239149569	p.Ile2526Leu	missense variant	-	NC_000019.10:g.42375813A>C	gnomAD
rs1480590883	p.Pro2528Ser	missense variant	-	NC_000019.10:g.42375819C>T	TOPMed,gnomAD
rs962664078	p.Pro2529Arg	missense variant	-	NC_000019.10:g.42375823C>G	TOPMed,gnomAD
rs962664078	p.Pro2529His	missense variant	-	NC_000019.10:g.42375823C>A	TOPMed,gnomAD
NCI-TCGA novel	p.Pro2530SerPheSerTerUnkUnk	frameshift	-	NC_000019.10:g.42375823_42375824insAT	NCI-TCGA
rs769598183	p.Pro2530Leu	missense variant	-	NC_000019.10:g.42375826C>T	ExAC,TOPMed,gnomAD
rs773102301	p.Ala2531Val	missense variant	-	NC_000019.10:g.42375829C>T	ExAC,TOPMed,gnomAD
rs773102301	p.Ala2531Asp	missense variant	-	NC_000019.10:g.42375829C>A	ExAC,TOPMed,gnomAD
rs1356244677	p.Ala2531Thr	missense variant	-	NC_000019.10:g.42375828G>A	gnomAD
rs1356244677	p.Ala2531Ser	missense variant	-	NC_000019.10:g.42375828G>T	gnomAD
rs1344952308	p.Pro2532Arg	missense variant	-	NC_000019.10:g.42375832C>G	gnomAD
rs1224426841	p.Pro2534Leu	missense variant	-	NC_000019.10:g.42375838C>T	gnomAD
rs1224426841	p.Pro2534Arg	missense variant	-	NC_000019.10:g.42375838C>G	gnomAD
rs149965041	p.Pro2535Ala	missense variant	-	NC_000019.10:g.42375840C>G	ESP,ExAC,TOPMed,gnomAD
rs774730847	p.Pro2537Leu	missense variant	-	NC_000019.10:g.42375847C>T	ExAC,TOPMed,gnomAD
rs766231753	p.Pro2537Thr	missense variant	-	NC_000019.10:g.42375846C>A	ExAC
rs767768711	p.Pro2538Leu	missense variant	-	NC_000019.10:g.42375850C>T	ExAC
rs759761956	p.Pro2538Thr	missense variant	-	NC_000019.10:g.42375849C>A	ExAC,gnomAD
rs759761956	p.Pro2538Ser	missense variant	-	NC_000019.10:g.42375849C>T	ExAC,gnomAD
rs1394382913	p.Ala2539Thr	missense variant	-	NC_000019.10:g.42375852G>A	TOPMed
rs1440102102	p.Asp2540Asn	missense variant	-	NC_000019.10:g.42375855G>A	gnomAD
rs1162016775	p.Asp2540Gly	missense variant	-	NC_000019.10:g.42375856A>G	TOPMed
rs543549761	p.Gly2541Arg	missense variant	-	NC_000019.10:g.42375858G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1480479780	p.Gly2542Glu	missense variant	-	NC_000019.10:g.42375862G>A	gnomAD
rs1421045014	p.Pro2543His	missense variant	-	NC_000019.10:g.42375865C>A	gnomAD
rs754329335	p.Arg2544Gln	missense variant	-	NC_000019.10:g.42375868G>A	ExAC,TOPMed,gnomAD
rs565321934	p.Arg2544Gly	missense variant	-	NC_000019.10:g.42375867C>G	1000Genomes,ExAC,gnomAD
RCV000547529	p.Arg2544Gln	missense variant	Carpenter syndrome 2 (CRPT2)	NC_000019.10:g.42375868G>A	ClinVar
rs565321934	p.Arg2544Trp	missense variant	-	NC_000019.10:g.42375867C>T	1000Genomes,ExAC,gnomAD
rs1168327264	p.Gly2545Trp	missense variant	-	NC_000019.10:g.42375870G>T	gnomAD
NCI-TCGA novel	p.Ala2546GlyPheSerTerUnkUnkUnk	frameshift	-	NC_000019.10:g.42375867_42375868insG	NCI-TCGA
COSM4614185	p.Ala2546LeuPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000019.10:g.42375868G>-	NCI-TCGA Cosmic
rs757641182	p.Ala2546Ser	missense variant	-	NC_000019.10:g.42375873G>T	ExAC,gnomAD
rs1322808398	p.Gly2547Arg	missense variant	-	NC_000019.10:g.42375876G>A	gnomAD
rs779190529	p.Gly2547Ala	missense variant	-	NC_000019.10:g.42375877G>C	ExAC,gnomAD
rs751281247	p.Pro2549Leu	missense variant	-	NC_000019.10:g.42375883C>T	ExAC,gnomAD
rs1405644043	p.Pro2549Ser	missense variant	-	NC_000019.10:g.42375882C>T	gnomAD
rs754611814	p.Gly2550Glu	missense variant	-	NC_000019.10:g.42375886G>A	ExAC,gnomAD
rs576074108	p.Gly2551Arg	missense variant	-	NC_000019.10:g.42375888G>A	ExAC,TOPMed,gnomAD
rs747582206	p.Ala2552Gly	missense variant	-	NC_000019.10:g.42375892C>G	ExAC,TOPMed,gnomAD
rs769310948	p.Ser2555Asn	missense variant	-	NC_000019.10:g.42375901G>A	ExAC,TOPMed,gnomAD
rs769310948	p.Ser2555Ile	missense variant	-	NC_000019.10:g.42375901G>T	ExAC,TOPMed,gnomAD
rs532380579	p.Ser2555Arg	missense variant	-	NC_000019.10:g.42375902C>G	1000Genomes,gnomAD
rs749183655	p.Gly2557Glu	missense variant	-	NC_000019.10:g.42375907G>A	ExAC,gnomAD
RCV000224648	p.Pro2558Leu	missense variant	-	NC_000019.10:g.42375910C>T	ClinVar
rs147216997	p.Pro2558Leu	missense variant	-	NC_000019.10:g.42375910C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000650615	p.Pro2558Leu	missense variant	Carpenter syndrome 2 (CRPT2)	NC_000019.10:g.42375910C>T	ClinVar
rs1193443700	p.Gly2559Asp	missense variant	-	NC_000019.10:g.42375913G>A	gnomAD
rs772398020	p.Ala2560Thr	missense variant	-	NC_000019.10:g.42375915G>A	ExAC,TOPMed,gnomAD
rs775678472	p.Pro2561Arg	missense variant	-	NC_000019.10:g.42375919C>G	ExAC,gnomAD
rs748884146	p.Pro2561Ser	missense variant	-	NC_000019.10:g.42375918C>T	gnomAD
rs1426437474	p.Ala2562Val	missense variant	-	NC_000019.10:g.42375922C>T	gnomAD
rs764185083	p.Arg2565Gln	missense variant	-	NC_000019.10:g.42375931G>A	ExAC,TOPMed,gnomAD
rs760698976	p.Arg2565Trp	missense variant	-	NC_000019.10:g.42375930C>T	ExAC,TOPMed,gnomAD
rs754313677	p.Val2566Ile	missense variant	-	NC_000019.10:g.42375933G>A	ExAC,gnomAD
rs754313677	p.Val2566Leu	missense variant	-	NC_000019.10:g.42375933G>T	ExAC,gnomAD
rs762303782	p.Arg2567Trp	missense variant	-	NC_000019.10:g.42375936C>T	ExAC,TOPMed,gnomAD
rs565653220	p.Arg2567Gln	missense variant	-	NC_000019.10:g.42375937G>A	1000Genomes,ExAC,gnomAD
RCV000525831	p.Val2569Ile	missense variant	Carpenter syndrome 2 (CRPT2)	NC_000019.10:g.42375942G>A	ClinVar
rs147133204	p.Val2569Leu	missense variant	-	NC_000019.10:g.42375942G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs147133204	p.Val2569Ile	missense variant	-	NC_000019.10:g.42375942G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1314746538	p.Trp2570Arg	missense variant	-	NC_000019.10:g.42375945T>A	gnomAD
rs754666792	p.Pro2571Leu	missense variant	-	NC_000019.10:g.42375949C>T	ExAC,gnomAD
rs754666792	p.Pro2571Arg	missense variant	-	NC_000019.10:g.42375949C>G	ExAC,gnomAD
rs755596877	p.Arg2572Gln	missense variant	-	NC_000019.10:g.42375952G>A	ExAC,TOPMed,gnomAD
rs374292471	p.Arg2572Trp	missense variant	-	NC_000019.10:g.42375951C>T	ESP,ExAC,TOPMed,gnomAD
rs368743788	p.Ile2575Thr	missense variant	-	NC_000019.10:g.42375961T>C	ESP,ExAC,TOPMed,gnomAD
rs778897649	p.Val2578Met	missense variant	-	NC_000019.10:g.42375969G>A	ExAC,TOPMed,gnomAD
rs745623883	p.Thr2579Met	missense variant	-	NC_000019.10:g.42375973C>T	ExAC,TOPMed,gnomAD
rs1196140982	p.Val2580Leu	missense variant	-	NC_000019.10:g.42375975G>C	TOPMed
rs760894129	p.Thr2581Met	missense variant	-	NC_000019.10:g.42375979C>T	ExAC,TOPMed,gnomAD
rs1453158410	p.Pro2583Leu	missense variant	-	NC_000019.10:g.42375985C>T	TOPMed,gnomAD
rs372348183	p.Ser2584Leu	missense variant	-	NC_000019.10:g.42375988C>T	ESP,ExAC,TOPMed,gnomAD
rs147796963	p.Val2588Met	missense variant	-	NC_000019.10:g.42375999G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs765704447	p.Arg2590His	missense variant	-	NC_000019.10:g.42376006G>A	ExAC,TOPMed,gnomAD
rs1455119271	p.Arg2590Cys	missense variant	-	NC_000019.10:g.42376005C>T	TOPMed,gnomAD
rs1239167049	p.Gly2591Ser	missense variant	-	NC_000019.10:g.42376008G>A	gnomAD
rs148860986	p.Val2592Leu	missense variant	-	NC_000019.10:g.42376011G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000767081	p.Val2592Met	missense variant	-	NC_000019.10:g.42376011G>A	ClinVar
RCV000203030	p.Val2592Met	missense variant	-	NC_000019.10:g.42376011G>A	ClinVar
rs148860986	p.Val2592Met	missense variant	-	NC_000019.10:g.42376011G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs367639760	p.Arg2593Trp	missense variant	-	NC_000019.10:g.42376014C>T	ESP,ExAC,gnomAD
rs371459258	p.Arg2593Gln	missense variant	-	NC_000019.10:g.42376015G>A	ESP,ExAC,TOPMed,gnomAD
rs1462489366	p.Asp2594Asn	missense variant	-	NC_000019.10:g.42376017G>A	TOPMed,gnomAD
rs1249758482	p.Arg2595Trp	missense variant	-	NC_000019.10:g.42376020C>T	TOPMed,gnomAD
rs986834447	p.Arg2595Gln	missense variant	-	NC_000019.10:g.42376021G>A	TOPMed,gnomAD
rs140517402	p.Leu2596Met	missense variant	-	NC_000019.10:g.42376023C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs745748581	p.Val2597Gly	missense variant	-	NC_000019.10:g.42376027T>G	ExAC,gnomAD
rs779024048	p.Val2597Ile	missense variant	-	NC_000019.10:g.42376026G>A	ExAC,TOPMed,gnomAD
rs758141124	p.Ile2598Leu	missense variant	-	NC_000019.10:g.42376029A>C	ExAC
NCI-TCGA novel	p.Thr2599Ser	missense variant	-	NC_000019.10:g.42376032A>T	NCI-TCGA
rs1471169202	p.Tyr2600Asn	missense variant	-	NC_000019.10:g.42376035T>A	gnomAD
rs369259843	p.His2602Gln	missense variant	-	NC_000019.10:g.42376043C>G	ESP,ExAC,TOPMed,gnomAD
rs942803330	p.His2602Arg	missense variant	-	NC_000019.10:g.42376042A>G	TOPMed
rs369259843	p.His2602Gln	missense variant	-	NC_000019.10:g.42376043C>A	ESP,ExAC,TOPMed,gnomAD
rs768902189	p.Glu2603Asp	missense variant	-	NC_000019.10:g.42376046G>T	ExAC,gnomAD
rs1396451878	p.Glu2603Lys	missense variant	-	NC_000019.10:g.42376044G>A	TOPMed,gnomAD
rs552972983	p.His2604Arg	missense variant	-	NC_000019.10:g.42376048A>G	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Ala2606Val	missense variant	-	NC_000019.10:g.42376054C>T	NCI-TCGA
rs748260455	p.Ser2609Leu	missense variant	-	NC_000019.10:g.42376063C>T	ExAC,TOPMed,gnomAD
COSM4852129	p.Ser2609Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42376063C>G	NCI-TCGA Cosmic
rs769818172	p.Ser2610Thr	missense variant	-	NC_000019.10:g.42376066G>C	ExAC,gnomAD
rs773724721	p.Arg2611Cys	missense variant	-	NC_000019.10:g.42376068C>T	ExAC,gnomAD
rs763453691	p.Arg2611His	missense variant	-	NC_000019.10:g.42376069G>A	ExAC,gnomAD
rs766724451	p.Tyr2613Phe	missense variant	-	NC_000019.10:g.42376075A>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly2618Ser	missense variant	-	NC_000019.10:g.42376089G>A	NCI-TCGA
rs772954605	p.Val2619Leu	missense variant	-	NC_000019.10:g.42376092G>C	ExAC,TOPMed,gnomAD
rs772954605	p.Val2619Leu	missense variant	-	NC_000019.10:g.42376092G>T	ExAC,TOPMed,gnomAD
rs772954605	p.Val2619Met	missense variant	-	NC_000019.10:g.42376092G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly2620Glu	missense variant	-	NC_000019.10:g.42376096G>A	NCI-TCGA
rs1227051412	p.Gly2620Arg	missense variant	-	NC_000019.10:g.42376095G>A	TOPMed
rs140588377	p.Asp2621Gly	missense variant	-	NC_000019.10:g.42376099A>G	ESP,ExAC,TOPMed,gnomAD
rs140588377	p.Asp2621Ala	missense variant	-	NC_000019.10:g.42376099A>C	ESP,ExAC,TOPMed,gnomAD
rs1198714245	p.Pro2622Ala	missense variant	-	NC_000019.10:g.42376101C>G	gnomAD
rs1430273963	p.Pro2622Arg	missense variant	-	NC_000019.10:g.42376102C>G	gnomAD
rs1430273963	p.Pro2622Leu	missense variant	-	NC_000019.10:g.42376102C>T	gnomAD
rs753498301	p.Ser2623Asn	missense variant	-	NC_000019.10:g.42376105G>A	ExAC,TOPMed,gnomAD
rs756847499	p.Gly2624Val	missense variant	-	NC_000019.10:g.42376108G>T	ExAC,gnomAD
rs756847499	p.Gly2624Ala	missense variant	-	NC_000019.10:g.42376108G>C	ExAC,gnomAD
rs200506642	p.Gly2626Ser	missense variant	-	NC_000019.10:g.42376113G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs746788380	p.Ala2627Val	missense variant	-	NC_000019.10:g.42376117C>T	ExAC,gnomAD
rs779762562	p.Ala2627Thr	missense variant	-	NC_000019.10:g.42376116G>A	ExAC,gnomAD
rs1303183639	p.Asn2628Asp	missense variant	-	NC_000019.10:g.42376119A>G	gnomAD
rs543957344	p.Gly2629Ser	missense variant	-	NC_000019.10:g.42376122G>A	1000Genomes,TOPMed
rs1216385147	p.Ser2630Pro	missense variant	-	NC_000019.10:g.42376125T>C	gnomAD
rs1283451397	p.Ala2631Thr	missense variant	-	NC_000019.10:g.42376128G>A	gnomAD
rs748313683	p.Asp2632Asn	missense variant	-	NC_000019.10:g.42376131G>A	ExAC,TOPMed,gnomAD
rs1263630268	p.Gln2634Pro	missense variant	-	NC_000019.10:g.42376138A>C	gnomAD
rs771443838	p.Arg2640Gln	missense variant	-	NC_000019.10:g.42376156G>A	ExAC,TOPMed,gnomAD
rs1269660319	p.Arg2640Trp	missense variant	-	NC_000019.10:g.42376155C>T	gnomAD
NCI-TCGA novel	p.Gln2641Arg	missense variant	-	NC_000019.10:g.42376159A>G	NCI-TCGA
rs375577811	p.Gln2641Lys	missense variant	-	NC_000019.10:g.42376158C>A	ESP,TOPMed
rs1184993084	p.Ala2644Pro	missense variant	-	NC_000019.10:g.42376167G>C	gnomAD
rs1429495113	p.Leu2648Gln	missense variant	-	NC_000019.10:g.42376180T>A	gnomAD
rs1172925447	p.Val2650Ala	missense variant	-	NC_000019.10:g.42376186T>C	gnomAD
rs373377277	p.Val2654Ile	missense variant	-	NC_000019.10:g.42376197G>A	ESP,TOPMed
rs1163716739	p.Phe2655Cys	missense variant	-	NC_000019.10:g.42376201T>G	gnomAD
rs772514096	p.Cys2658Gly	missense variant	-	NC_000019.10:g.42376209T>G	ExAC,gnomAD
rs776435405	p.Cys2658Phe	missense variant	-	NC_000019.10:g.42376210G>T	ExAC,gnomAD
NCI-TCGA novel	p.Leu2663Val	missense variant	-	NC_000019.10:g.42376224C>G	NCI-TCGA
NCI-TCGA novel	p.Ser2664ArgPheSerTerUnkUnk	frameshift	-	NC_000019.10:g.42376227_42376248TCACTCTGTGTGCTCCTCTGGA>-	NCI-TCGA
rs1310263470	p.Ser2664Pro	missense variant	-	NC_000019.10:g.42376227T>C	gnomAD
rs761489341	p.Ser2664Leu	missense variant	-	NC_000019.10:g.42376228C>T	ExAC,gnomAD
NCI-TCGA novel	p.Cys2666Arg	missense variant	-	NC_000019.10:g.42376233T>C	NCI-TCGA
rs749927655	p.Cys2666Phe	missense variant	-	NC_000019.10:g.42376234G>T	ExAC,gnomAD
rs1228072440	p.Val2667Met	missense variant	-	NC_000019.10:g.42376236G>A	TOPMed
rs762839723	p.Leu2669Phe	missense variant	-	NC_000019.10:g.42376242C>T	ExAC,gnomAD
NCI-TCGA novel	p.Trp2670Ter	stop gained	-	NC_000019.10:g.42376246G>A	NCI-TCGA
COSM5150234	p.Trp2670Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42376245T>C	NCI-TCGA Cosmic
rs1260384829	p.Lys2671Arg	missense variant	-	NC_000019.10:g.42376249A>G	gnomAD
rs766373206	p.Ala2672Ser	missense variant	-	NC_000019.10:g.42376251G>T	ExAC,gnomAD
rs1188695827	p.Ala2672Val	missense variant	-	NC_000019.10:g.42376252C>T	gnomAD
rs780901983	p.Asp2677Glu	missense variant	-	NC_000019.10:g.42376268C>G	ExAC,TOPMed,gnomAD
rs1184751647	p.Asp2677His	missense variant	-	NC_000019.10:g.42376266G>C	TOPMed,gnomAD
rs1184751647	p.Asp2677Asn	missense variant	-	NC_000019.10:g.42376266G>A	TOPMed,gnomAD
rs541061019	p.Asp2677Gly	missense variant	-	NC_000019.10:g.42376267A>G	1000Genomes,ExAC
rs752987335	p.Arg2679Gly	missense variant	-	NC_000019.10:g.42376272C>G	ExAC,TOPMed,gnomAD
rs752987335	p.Arg2679Trp	missense variant	-	NC_000019.10:g.42376272C>T	ExAC,TOPMed,gnomAD
rs1013782173	p.Arg2679Gln	missense variant	-	NC_000019.10:g.42376273G>A	TOPMed
rs1157678169	p.Glu2681Lys	missense variant	-	NC_000019.10:g.42376278G>A	gnomAD
rs199675024	p.Glu2681Gly	missense variant	-	NC_000019.10:g.42376279A>G	ExAC,gnomAD
rs1454993816	p.Gln2682Glu	missense variant	-	NC_000019.10:g.42376281C>G	gnomAD
rs950869878	p.Arg2683His	missense variant	-	NC_000019.10:g.42376285G>A	TOPMed,gnomAD
rs749352975	p.Arg2684Gln	missense variant	-	NC_000019.10:g.42376288G>A	ExAC,gnomAD
rs377748543	p.Arg2684Trp	missense variant	-	NC_000019.10:g.42376287C>T	ESP,ExAC,TOPMed,gnomAD
rs770873055	p.His2685Tyr	missense variant	-	NC_000019.10:g.42376290C>T	ExAC,TOPMed,gnomAD
RCV000551847	p.Leu2686Trp	missense variant	Carpenter syndrome 2 (CRPT2)	NC_000019.10:g.42376294T>G	ClinVar
rs1555785144	p.Leu2686Trp	missense variant	-	NC_000019.10:g.42376294T>G	-
rs1159881367	p.Gln2687Glu	missense variant	-	NC_000019.10:g.42376296C>G	TOPMed
rs779493868	p.Arg2695Cys	missense variant	-	NC_000019.10:g.42376320C>T	ExAC,gnomAD
rs370389657	p.Arg2695His	missense variant	-	NC_000019.10:g.42376321G>A	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Ala2698Val	missense variant	-	NC_000019.10:g.42376330C>T	NCI-TCGA
rs1218191232	p.Ala2698Gly	missense variant	-	NC_000019.10:g.42376330C>G	gnomAD
rs1461151357	p.Lys2699Asn	missense variant	-	NC_000019.10:g.42376334G>T	gnomAD
rs1261729829	p.Lys2699Thr	missense variant	-	NC_000019.10:g.42376333A>C	gnomAD
rs1245539911	p.Val2702Ile	missense variant	-	NC_000019.10:g.42376341G>A	TOPMed,gnomAD
rs1469019514	p.Cys2703Tyr	missense variant	-	NC_000019.10:g.42376345G>A	gnomAD
rs1408047750	p.Phe2704Cys	missense variant	-	NC_000019.10:g.42376348T>G	gnomAD
NCI-TCGA novel	p.Pro2705Leu	missense variant	-	NC_000019.10:g.42376351C>T	NCI-TCGA
rs772701511	p.Pro2706His	missense variant	-	NC_000019.10:g.42376354C>A	ExAC,gnomAD
rs769540970	p.Pro2706Thr	missense variant	-	NC_000019.10:g.42376353C>A	ExAC,gnomAD
COSM3823241	p.Asp2707Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42376356G>T	NCI-TCGA Cosmic
rs1186747670	p.Pro2708Leu	missense variant	-	NC_000019.10:g.42376360C>T	TOPMed
rs373293709	p.Pro2708Thr	missense variant	-	NC_000019.10:g.42376359C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM5741619	p.Pro2708His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42376360C>A	NCI-TCGA Cosmic
rs765750865	p.Thr2709Ile	missense variant	-	NC_000019.10:g.42376363C>T	ExAC,gnomAD
rs1352725558	p.Ala2710Val	missense variant	-	NC_000019.10:g.42376366C>T	gnomAD
rs377485395	p.Pro2711Leu	missense variant	-	NC_000019.10:g.42376369C>T	ESP,ExAC,TOPMed,gnomAD
rs1466337776	p.Pro2711Ser	missense variant	-	NC_000019.10:g.42376368C>T	TOPMed
rs1466337776	p.Pro2711Ala	missense variant	-	NC_000019.10:g.42376368C>G	TOPMed
rs548176972	p.Ala2714Thr	missense variant	-	NC_000019.10:g.42376377G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs548176972	p.Ala2714Ser	missense variant	-	NC_000019.10:g.42376377G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1323040403	p.Trp2715Ter	stop gained	-	NC_000019.10:g.42376381G>A	TOPMed,gnomAD
rs757370273	p.Lys2716Asn	missense variant	-	NC_000019.10:g.42376385G>T	ExAC,gnomAD
rs778790173	p.Pro2717Leu	missense variant	-	NC_000019.10:g.42376387C>T	ExAC,TOPMed,gnomAD
rs1265353118	p.Pro2717Ser	missense variant	-	NC_000019.10:g.42376386C>T	gnomAD
rs772693677	p.Gly2719Arg	missense variant	-	NC_000019.10:g.42376392G>A	ExAC,gnomAD
rs951286093	p.Pro2721Leu	missense variant	-	NC_000019.10:g.42376399C>T	TOPMed,gnomAD
rs747409318	p.Pro2722Leu	missense variant	-	NC_000019.10:g.42376402C>T	ExAC,TOPMed,gnomAD
rs747409318	p.Pro2722Arg	missense variant	-	NC_000019.10:g.42376402C>G	ExAC,TOPMed,gnomAD
COSM4595851	p.Pro2723Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42376405C>T	NCI-TCGA Cosmic
rs530619835	p.Ala2724Thr	missense variant	-	NC_000019.10:g.42376407G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1451591365	p.Ala2724Gly	missense variant	-	NC_000019.10:g.42376408C>G	TOPMed
rs141224456	p.Arg2726Cys	missense variant	-	NC_000019.10:g.42376413C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs554106070	p.Arg2726His	missense variant	-	NC_000019.10:g.42376414G>A	ExAC,TOPMed,gnomAD
rs759523264	p.Arg2727Leu	missense variant	-	NC_000019.10:g.42376417G>T	ExAC,TOPMed,gnomAD
rs759523264	p.Arg2727His	missense variant	-	NC_000019.10:g.42376417G>A	ExAC,TOPMed,gnomAD
rs773723714	p.Arg2727Cys	missense variant	-	NC_000019.10:g.42376416C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser2728Tyr	missense variant	-	NC_000019.10:g.42376420C>A	NCI-TCGA
rs1345161858	p.Glu2729Gly	missense variant	-	NC_000019.10:g.42376423A>G	gnomAD
rs775363240	p.Pro2730His	missense variant	-	NC_000019.10:g.42376426C>A	ExAC,TOPMed,gnomAD
rs775363240	p.Pro2730Arg	missense variant	-	NC_000019.10:g.42376426C>G	ExAC,TOPMed,gnomAD
rs763736870	p.Ala2733Glu	missense variant	-	NC_000019.10:g.42376435C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro2734Ser	missense variant	-	NC_000019.10:g.42376437C>T	NCI-TCGA
rs1337851763	p.Pro2734Thr	missense variant	-	NC_000019.10:g.42376437C>A	gnomAD
rs754092671	p.Leu2735Val	missense variant	-	NC_000019.10:g.42376440C>G	ExAC,TOPMed,gnomAD
rs1274348259	p.Ala2740Thr	missense variant	-	NC_000019.10:g.42376455G>A	gnomAD
COSM6084864	p.Ala2740Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42376455G>T	NCI-TCGA Cosmic
rs765414410	p.Gly2741Ser	missense variant	-	NC_000019.10:g.42376458G>A	ExAC,gnomAD
rs1270384519	p.Gly2742Ala	missense variant	-	NC_000019.10:g.42376462G>C	gnomAD
rs925382191	p.Pro2743Leu	missense variant	-	NC_000019.10:g.42376465C>T	TOPMed,gnomAD
rs758513082	p.Pro2743Ala	missense variant	-	NC_000019.10:g.42376464C>G	ExAC,TOPMed,gnomAD
COSM3712938	p.Pro2746Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42376474C>T	NCI-TCGA Cosmic
rs780730679	p.Met2747Val	missense variant	-	NC_000019.10:g.42376476A>G	ExAC,gnomAD
rs1405301829	p.Met2747Lys	missense variant	-	NC_000019.10:g.42376477T>A	TOPMed
rs1474969745	p.Gly2748Ala	missense variant	-	NC_000019.10:g.42376480G>C	gnomAD
rs1168236901	p.Gly2749Glu	missense variant	-	NC_000019.10:g.42376483G>A	gnomAD
rs1421611748	p.Gly2750Asp	missense variant	-	NC_000019.10:g.42376486G>A	gnomAD
rs747462291	p.Pro2753Leu	missense variant	-	NC_000019.10:g.42376495C>T	ExAC,gnomAD
rs1365022835	p.Pro2754Leu	missense variant	-	NC_000019.10:g.42376498C>T	gnomAD
rs1425609081	p.Ile2756Val	missense variant	-	NC_000019.10:g.42376503A>G	gnomAD
rs1369668558	p.Pro2757Thr	missense variant	-	NC_000019.10:g.42376506C>A	TOPMed
rs781408938	p.Ala2758Thr	missense variant	-	NC_000019.10:g.42376509G>A	ExAC,TOPMed,gnomAD
rs749030562	p.Thr2759Ile	missense variant	-	NC_000019.10:g.42376513C>T	ExAC,TOPMed,gnomAD
rs1368032599	p.Ala2761Pro	missense variant	-	NC_000019.10:g.42376518G>C	TOPMed,gnomAD
rs1368032599	p.Ala2761Thr	missense variant	-	NC_000019.10:g.42376518G>A	TOPMed,gnomAD
rs770472361	p.Gly2762Arg	missense variant	-	NC_000019.10:g.42376521G>A	ExAC,TOPMed,gnomAD
rs1359538224	p.Arg2764Gln	missense variant	-	NC_000019.10:g.42376528G>A	gnomAD
rs1290482229	p.Arg2764Ter	stop gained	-	NC_000019.10:g.42376527C>T	gnomAD
rs1223996344	p.Ile2768Val	missense variant	-	NC_000019.10:g.42376539A>G	gnomAD
rs1281734599	p.Thr2769Ala	missense variant	-	NC_000019.10:g.42376542A>G	TOPMed,gnomAD
rs773956907	p.Thr2769Ser	missense variant	-	NC_000019.10:g.42376543C>G	ExAC
rs949638636	p.Leu2770Val	missense variant	-	NC_000019.10:g.42376545C>G	TOPMed,gnomAD
rs1193688581	p.Glu2771Lys	missense variant	-	NC_000019.10:g.42376548G>A	gnomAD
rs1182907814	p.Val2780Met	missense variant	-	NC_000019.10:g.42376575G>A	gnomAD
rs1309978006	p.Gln2786Arg	missense variant	-	NC_000019.10:g.42376594A>G	TOPMed
rs776276340	p.Gly2790Arg	missense variant	-	NC_000019.10:g.42376605G>A	ExAC,gnomAD
rs1400317472	p.Pro2791Leu	missense variant	-	NC_000019.10:g.42376609C>T	gnomAD
rs1450820695	p.Ala2793Val	missense variant	-	NC_000019.10:g.42376615C>T	gnomAD
rs1391278086	p.Ala2793Thr	missense variant	-	NC_000019.10:g.42376614G>A	gnomAD
rs995223242	p.Gly2796Ser	missense variant	-	NC_000019.10:g.42376623G>A	TOPMed,gnomAD
rs1205340950	p.Gly2800Arg	missense variant	-	NC_000019.10:g.42376635G>A	gnomAD
rs758564292	p.Gly2800Glu	missense variant	-	NC_000019.10:g.42376636G>A	ExAC,gnomAD
rs755424542	p.Arg2807Trp	missense variant	-	NC_000019.10:g.42376656C>T	ExAC,TOPMed,gnomAD
rs546648359	p.Arg2807Gln	missense variant	-	NC_000019.10:g.42376657G>A	1000Genomes,ExAC,gnomAD
rs1159367592	p.His2808Arg	missense variant	-	NC_000019.10:g.42376660A>G	gnomAD
rs748426418	p.His2808Tyr	missense variant	-	NC_000019.10:g.42376659C>T	ExAC,TOPMed,gnomAD
RCV000540003	p.Arg2809Lys	missense variant	Carpenter syndrome 2 (CRPT2)	NC_000019.10:g.42376663G>A	ClinVar
rs11881304	p.Arg2809Lys	missense variant	-	NC_000019.10:g.42376663G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs554973700	p.Glu2812Asp	missense variant	-	NC_000019.10:g.42376673G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1326347816	p.Gly2815Glu	missense variant	-	NC_000019.10:g.42376681G>A	gnomAD
rs373738711	p.Gly2816Cys	missense variant	-	NC_000019.10:g.42376683G>T	ESP,ExAC,gnomAD
rs367932670	p.Gly2816Val	missense variant	-	NC_000019.10:g.42376684G>T	ESP,TOPMed,gnomAD
rs779537526	p.Gly2817Ser	missense variant	-	NC_000019.10:g.42376686G>A	ExAC,TOPMed,gnomAD
rs747008772	p.Gly2817Ala	missense variant	-	NC_000019.10:g.42376687G>C	ExAC,TOPMed,gnomAD
rs1320920881	p.Gly2818Glu	missense variant	-	NC_000019.10:g.42376690G>A	gnomAD
RCV000514372	p.Ser2823Gly	missense variant	-	NC_000019.10:g.42376704A>G	ClinVar
rs537269414	p.Ser2823Gly	missense variant	-	NC_000019.10:g.42376704A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1437325934	p.Gly2824Arg	missense variant	-	NC_000019.10:g.42376707G>A	gnomAD
rs1336179289	p.Gly2828Val	missense variant	-	NC_000019.10:g.42376720G>T	TOPMed
rs1336179289	p.Gly2828Asp	missense variant	-	NC_000019.10:g.42376720G>A	TOPMed
rs1176227129	p.Ala2829Thr	missense variant	-	NC_000019.10:g.42376722G>A	TOPMed,gnomAD
rs975858414	p.Ala2829Val	missense variant	-	NC_000019.10:g.42376723C>T	TOPMed,gnomAD
rs912488220	p.Gly2830Asp	missense variant	-	NC_000019.10:g.42376726G>A	TOPMed,gnomAD
rs763261685	p.Arg2831Trp	missense variant	-	NC_000019.10:g.42376728C>T	ExAC,TOPMed,gnomAD
rs766621187	p.Arg2831Gln	missense variant	-	NC_000019.10:g.42376729G>A	ExAC,TOPMed,gnomAD
rs1391488586	p.Gly2833Arg	missense variant	-	NC_000019.10:g.42376734G>A	gnomAD
rs1309282319	p.Leu2834Pro	missense variant	-	NC_000019.10:g.42376738T>C	gnomAD
rs988145517	p.Gln2837His	missense variant	-	NC_000019.10:g.42376748G>C	TOPMed
rs1343305610	p.Gln2837Arg	missense variant	-	NC_000019.10:g.42376747A>G	gnomAD
rs61978610	p.Asn2839Thr	missense variant	-	NC_000019.10:g.42376753A>C	1000Genomes
rs61978610	p.Asn2839Ser	missense variant	-	NC_000019.10:g.42376753A>G	1000Genomes
rs914088074	p.Thr2841Ile	missense variant	-	NC_000019.10:g.42376759C>T	TOPMed,gnomAD
rs1403936881	p.Thr2841Ala	missense variant	-	NC_000019.10:g.42376758A>G	gnomAD
rs914088074	p.Thr2841Ser	missense variant	-	NC_000019.10:g.42376759C>G	TOPMed,gnomAD
RCV000554737	p.Thr2841Ser	missense variant	Carpenter syndrome 2 (CRPT2)	NC_000019.10:g.42376759C>G	ClinVar
rs1451082734	p.Met2843Val	missense variant	-	NC_000019.10:g.42376764A>G	gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0001418	Adenocarcinoma	group	BEFREE
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0007102	Malignant tumor of colon	disease	BEFREE
C0009081	Congenital clubfoot	disease	HPO
C0009402	Colorectal Carcinoma	disease	BEFREE
C0009404	Colorectal Neoplasms	group	BEFREE
C0010278	Craniosynostosis	disease	GENOMICS_ENGLAND;HPO
C0010417	Cryptorchidism	disease	HPO
C0010495	Cutis Laxa	disease	HPO
C0013274	Patent ductus arteriosus	disease	HPO
C0018798	Congenital Heart Defects	group	BEFREE
C0020534	Orbital separation excessive	phenotype	HPO
C0024623	Malignant neoplasm of stomach	disease	BEFREE
C0025362	Mental Retardation	disease	HPO
C0028754	Obesity	disease	HPO
C0030044	Acrocephaly	disease	HPO
C0030567	Parkinson Disease	disease	BEFREE
C0152427	Polydactyly	disease	GENOMICS_ENGLAND
C0158731	Congenital pectus carinatum	disease	HPO
C0221352	Syndactyly of fingers	disease	HPO
C0221357	Brachydactyly	disease	HPO
C0235942	Abnormality of the skull	phenotype	HPO
C0238421	Selenium deficiency	disease	BEFREE
C0239234	Low set ears	phenotype	HPO
C0240635	Byzanthine arch palate	disease	HPO
C0265660	Syndactyly of the toes	disease	HPO
C0266011	Accessory nipple	phenotype	HPO
C0279628	Adenocarcinoma Of Esophagus	disease	BEFREE
C0345354	Radial polydactyly	disease	HPO
C0423109	Upward slant of palpebral fissure	phenotype	HPO
C0423903	Low intelligence	phenotype	HPO
C0426891	Broad thumbs	phenotype	HPO
C0431904	Ulnar polydactyly of fingers	disease	HPO
C0432355	Hypoplasia of nipple	disease	HPO
C0521525	Short neck	phenotype	HPO
C0557874	Global developmental delay	disease	HPO
C0576093	Knee joint valgus deformity	phenotype	HPO
C0678222	Breast Carcinoma	disease	BEFREE
C0678230	Congenital Epicanthus	disease	HPO
C0685409	Congenital Camptodactyly	disease	HPO
C0699790	Colon Carcinoma	disease	BEFREE
C0699791	Stomach Carcinoma	disease	BEFREE
C0917816	Mental deficiency	disease	HPO
C1275078	Acrocephalopolysyndactyly type 2	disease	BEFREE;CTD_human;MGD;ORPHANET
C1275122	Familial multiple trichoepitheliomata	disease	BEFREE
C1398312	Narrow palate	phenotype	HPO
C1415817	HETEROTAXY, VISCERAL, 2, AUTOSOMAL	disease	MGD
C1527249	Colorectal Cancer	disease	BEFREE
C1827524	Wide spaced nipples	phenotype	HPO
C1836542	Depressed nasal bridge	phenotype	HPO
C1839764	Broad flat nasal bridge	phenotype	HPO
C1840077	Anteverted nostril	phenotype	HPO
C1843367	Poor school performance	phenotype	HPO
C1844020	HETEROTAXY, VISCERAL, 1, X-LINKED	disease	MGD
C1849367	Nasal bridge wide	phenotype	HPO
C1853242	Midface retrusion	phenotype	HPO
C1853444	Heterotaxy, Visceral, 3, Autosomal	disease	MGD
C1855333	External genital hypoplasia	phenotype	HPO
C1855670	Abnormality of the cornea	group	HPO
C1860050	Cloverleaf skull	phenotype	HPO
C1862096	Aplasia of the middle phalanx of the hand	phenotype	HPO
C1864897	Cognitive delay	phenotype	HPO
C1866339	Preaxial Hallucal Polydactyly	disease	HPO
C1868571	Highly arched eyebrow	phenotype	HPO
C2051831	Pectus excavatum	phenotype	HPO
C2112942	Preaxial foot polydactyly	phenotype	HPO
C2239176	Liver carcinoma	disease	BEFREE
C2673410	Small midface	phenotype	HPO
C2930812	Generalized elastolysis	disease	HPO
C3151057	HETEROTAXY, VISCERAL, 4, AUTOSOMAL	disease	MGD
C3151867	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED	disease	MGD
C3550546	Depressed nasal root/bridge	phenotype	HPO
C3553676	HETEROTAXY, VISCERAL, 6, AUTOSOMAL	disease	MGD
C3554247	CARPENTER SYNDROME 2	disease	CLINVAR;UNIPROT
C3714756	Intellectual Disability	group	GENOMICS_ENGLAND;HPO
C4020849	Bowed and upward slanting eyebrows	phenotype	HPO
C4020875	Mental and motor retardation	phenotype	HPO
C4020876	Dull intelligence	phenotype	HPO
C4020889	Cornela disease	disease	HPO
C4021254	Cutaneous finger syndactyly	disease	HPO
C4280320	Hypotrophic midface	phenotype	HPO
C4280321	Decreased projection of midface	phenotype	HPO
C4280495	Concave bridge of nose	phenotype	HPO
C4280564	Cloverleaf cranium shape	phenotype	HPO
C4280606	Hanging skin	phenotype	HPO
C4282407	Sparse and thin eyebrow	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005509	calcium ion binding	IEA
GO:0005515	protein binding	IPI

GO:Biological Process

GO ID	GO Term	Evidence
GO:0003143	embryonic heart tube morphogenesis	ISS
GO:0009887	animal organ morphogenesis	IBA
GO:0009888	tissue development	IBA
GO:0010468	regulation of gene expression	ISS
GO:0030326	embryonic limb morphogenesis	ISS
GO:0030509	BMP signaling pathway	ISS
GO:0035108	limb morphogenesis	IMP
GO:0042074	cell migration involved in gastrulation	IMP
GO:0045879	negative regulation of smoothened signaling pathway	ISS
GO:0048704	embryonic skeletal system morphogenesis	ISS
GO:0048842	positive regulation of axon extension involved in axon guidance	ISS
GO:0055113	epiboly involved in gastrulation with mouth forming second	IMP
GO:0060971	embryonic heart tube left/right pattern formation	ISS
GO:0060972	left/right pattern formation	IMP
GO:0060976	coronary vasculature development	IEA
GO:0061371	determination of heart left/right asymmetry	IMP
GO:0071907	determination of digestive tract left/right asymmetry	ISS
GO:0097094	craniofacial suture morphogenesis	IMP
GO:0097155	fasciculation of sensory neuron axon	ISS

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005634	nucleus	ISS
GO:0016021	integral component of membrane	IEA
GO:0070062	extracellular exosome	HDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
C111118	2',3,3',4',5-pentachloro-4-hydroxybiphenyl	2',3,3',4',5-pentachloro-4-hydroxybiphenyl results in decreased expression of MEGF8 mRNA	19114083
C496492	abrine	abrine results in decreased expression of MEGF8 mRNA	31054353
D000082	Acetaminophen	Acetaminophen affects the expression of MEGF8 mRNA	17562736
D016604	Aflatoxin B1	Aflatoxin B1 results in increased expression of MEGF8 mRNA	19770486
D000535	Aluminum	[APP protein modified form binds to Aluminum] which results in increased expression of MEGF8 mRNA	21298039
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of MEGF8 mRNA	16483693
D001151	Arsenic	Arsenic affects the methylation of MEGF8 gene	25304211
D001564	Benzo(a)pyrene	Benzo(a)pyrene affects the methylation of MEGF8 exon	30157460
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of MEGF8 mRNA	26238291
C026487	benzo(e)pyrene	benzo(e)pyrene results in increased methylation of MEGF8 exon	30157460
D019324	beta-Naphthoflavone	[Diethylnitrosamine co-treated with beta-Naphthoflavone] results in increased expression of MEGF8 mRNA	18164116
C006780	bisphenol A	bisphenol A results in increased methylation of MEGF8 intron	30906313
C006780	bisphenol A	bisphenol A results in decreased expression of MEGF8 mRNA	25181051; 27178563; 30816183;
C018475	butyraldehyde	butyraldehyde results in decreased expression of MEGF8 mRNA	26079696
D020111	Chlorodiphenyl (54% Chlorine)	Chlorodiphenyl (54% Chlorine) results in increased expression of MEGF8 mRNA	23650126
D060729	Coal Ash	Coal Ash results in increased expression of MEGF8 mRNA	19000753
D019327	Copper Sulfate	Copper Sulfate results in increased expression of MEGF8 mRNA	19549813
D016572	Cyclosporine	Cyclosporine results in decreased expression of MEGF8 mRNA	25562108
D003976	Diazinon	Diazinon results in decreased methylation of MEGF8 gene	22964155
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in decreased expression of MEGF8 mRNA	21266533
C000944	dicrotophos	dicrotophos results in increased expression of MEGF8 mRNA	28302478
D004052	Diethylnitrosamine	[Diethylnitrosamine co-treated with beta-Naphthoflavone] results in increased expression of MEGF8 mRNA	18164116
D004054	Diethylstilbestrol	Diethylstilbestrol results in increased expression of MEGF8 mRNA	21658437
D000431	Ethanol	Ethanol affects the expression of MEGF8 mRNA	30319688
D000431	Ethanol	Ethanol results in increased expression of MEGF8 mRNA	30319688
C000593030	GSK-J4	GSK-J4 results in decreased expression of MEGF8 mRNA	29301935
D007854	Lead	Lead affects the splicing of MEGF8 mRNA	28903495
D000077339	Leflunomide	Leflunomide results in decreased expression of MEGF8 mRNA	28988120
D008694	Methamphetamine	Methamphetamine results in decreased expression of MEGF8 mRNA	29802913
D008701	Methapyrilene	Methapyrilene results in increased methylation of MEGF8 exon	30157460
C006253	pirinixic acid	[pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of MEGF8 mRNA	19710929
D011794	Quercetin	Quercetin results in increased expression of MEGF8 mRNA	21632981
C017947	sodium arsenite	sodium arsenite results in increased expression of MEGF8 mRNA	29361514
C017947	sodium arsenite	sodium arsenite results in decreased expression of MEGF8 mRNA	22714537
D012969	Sodium Fluoride	Sodium Fluoride results in increased expression of MEGF8 mRNA	27862939
D014635	Valproic Acid	Valproic Acid results in increased expression of MEGF8 mRNA	23179753
D014639	Vanadium	Vanadium results in increased expression of MEGF8 mRNA	19000753

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0025	Alternative splicing
KW-0106	Calcium
KW-0989	Craniosynostosis
KW-0225	Disease mutation
KW-1015	Disulfide bond
KW-0245	EGF-like domain
KW-0325	Glycoprotein
KW-0880	Kelch repeat
KW-0424	Laminin EGF-like domain
KW-0472	Membrane
KW-0597	Phosphoprotein
KW-1185	Reference proteome
KW-0677	Repeat
KW-0732	Signal
KW-0812	Transmembrane
KW-1133	Transmembrane helix

Interpro

InterPro ID	InterPro Term
IPR000859	CUB_dom
IPR001881	EGF-like_Ca-bd_dom
IPR013032	EGF-like_CS
IPR000742	EGF-like_dom
IPR000152	EGF-type_Asp/Asn_hydroxyl_site
IPR018097	EGF_Ca-bd_CS
IPR024731	EGF_dom
IPR015915	Kelch-typ_b-propeller
IPR002049	Laminin_EGF
IPR002165	Plexin_repeat
IPR016201	PSI
IPR035914	Sperma_CUB_dom_sf

PROSITE

PROSITE ID	PROSITE Term
PS00010	ASX_HYDROXYL
PS01180	CUB
PS00022	EGF_1
PS01186	EGF_2
PS50026	EGF_3
PS01187	EGF_CA
PS01248	EGF_LAM_1
PS50027	EGF_LAM_2

Pfam

Pfam ID	Pfam Term
PF00431	CUB
PF12947	EGF_3
PF07645	EGF_CA
PF00053	Laminin_EGF
PF01437	PSI

Gene: MEGF8

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

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