AiPD: Autoinhibited Protein Database

Q12866

Gene name	MERTK (MER)
Protein name	Tyrosine-protein kinase Mer
Names	Proto-oncogene c-Mer, Receptor tyrosine kinase MerTK
Species	Homo sapiens (Human)
KEGG Pathway	hsa:10461
EC number	2.7.10.1: Protein-tyrosine kinases
Protein Class	TYROSINE-PROTEIN KINASE RECEPTOR (PTHR24416)

Descriptions

Tyrosine-protein kinase Mer (MerTK, Mer) is a transmembrane tyrosine receptor kinase with extracellular immunoglobulin and fibronectin-like domains that recognize ligands such as growth arrest specific 6 (Gas6) and protein S. Ligand-binding leads to autophosphorylation of the tyrosine in the activation loop (Tyr749, Tyr753 and Tyr754) and then results in the activation of downstream enzymes (PI3K, MAPK, GTPase).

Autoinhibitory domains (AIDs)

Accessory elements

740-765 (Activation loop from InterPro)

Target domain	587-858 (Protein kinase domain)
Relief mechanism	PTM
Assay	Structural analysis

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell systems, 2, 89-100

Huang X et al. (2009) "Structural insights into the inhibited states of the Mer receptor tyrosine kinase", Journal of structural biology, 165, 88-96

Autoinhibited structure

Activated structure

37 structures for Q12866

Entry ID	Method	Resolution	Chain	Position	Source
2DBJ	NMR	-	A	373-483	PDB
2P0C	X-ray	240 A	A/B	570-864	PDB
3BPR	X-ray	280 A	A/B/C/D	570-864	PDB
3BRB	X-ray	190 A	A/B	570-864	PDB
3TCP	X-ray	269 A	A/B	570-864	PDB
4M3Q	X-ray	272 A	A/B	570-864	PDB
4MH7	X-ray	251 A	A/B	570-864	PDB
4MHA	X-ray	259 A	A/B	570-864	PDB
5K0K	X-ray	254 A	A/B	570-864	PDB
5K0X	X-ray	223 A	A/B	570-864	PDB
5TC0	X-ray	224 A	A/B	570-864	PDB
5TD2	X-ray	268 A	A/B	577-861	PDB
5U6C	X-ray	210 A	A/B	570-864	PDB
6MEP	X-ray	289 A	A/B	570-864	PDB
7AAX	X-ray	176 A	A	571-864	PDB
7AAY	X-ray	187 A	A	571-864	PDB
7AAZ	X-ray	185 A	A	570-864	PDB
7AB0	X-ray	174 A	A	571-864	PDB
7AB1	X-ray	193 A	A	571-864	PDB
7AB2	X-ray	178 A	A	571-864	PDB
7AVX	X-ray	244 A	A/B	570-864	PDB
7AVY	X-ray	231 A	A	570-864	PDB
7AVZ	X-ray	204 A	A	571-864	PDB
7AW0	X-ray	189 A	A	571-864	PDB
7AW1	X-ray	198 A	A	571-864	PDB
7AW2	X-ray	210 A	A	571-864	PDB
7AW3	X-ray	199 A	A	571-864	PDB
7AW4	X-ray	198 A	A/B	570-864	PDB
7CQE	X-ray	269 A	A/C	571-864	PDB
7DXL	X-ray	315 A	A/B	570-864	PDB
7M5Z	X-ray	306 A	A/B	570-864	PDB
7OAM	X-ray	265 A	A/B	571-864	PDB
7OLS	X-ray	189 A	A	571-864	PDB
7OLV	X-ray	213 A	A	571-864	PDB
7OLX	X-ray	198 A	A	571-864	PDB
7XHY	X-ray	216 A	A	571-864	PDB
AF-Q12866-F1	Predicted				AlphaFoldDB

869 variants for Q12866

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000358600 CA148491 rs35898499 RCV000086964 VAR_021039 RCV000081391	20	R>S	Retinitis pigmentosa [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs144751432 CA1830976 RCV001059261 RCV001136136	33	P>L	Retinitis pigmentosa [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs527694612 CA1830985 RCV001410430 RCV000305032	46	D>E	Retinitis pigmentosa [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001211541 CA1830987 rs567766808 RCV002562373	49	P>L	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV002553314 CA1830998 rs200120223 RCV001136137 CA1830997 RCV001053320	69	Q>H	Retinitis pigmentosa Inborn genetic diseases Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD NCI-TCGA
RCV000132664 rs527236083 RCV002277279	76	G>missing	Retinitis pigmentosa [ClinVar]	Yes	ClinVar dbSNP
RCV001074444 rs372527246 RCV001341613 CA1831007	88	S>L	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA236067 rs786205533 RCV000171303 RCV001257798	109	K>*	Autosomal recessive retinitis pigmentosa Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar Ensembl NCI-TCGA dbSNP
CA1831017 RCV002501026 RCV001230244 RCV000787624 rs772421550 RCV001074011	115	C>W	Retinitis pigmentosa 38 Retinitis pigmentosa Retinal dystrophy Retinitis pigmentosa (rp) [ClinVar, Ensembl]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001775579 VAR_021040 RCV000081390 RCV000362037 rs13027171 CA148489 RCV001523722	118	S>N	Retinitis pigmentosa 38 Retinitis pigmentosa [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1684627892 RCV001073477	123	Y>missing	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
CA270101 RCV000132665 rs527236134	124	Q>*	Retinitis pigmentosa 38 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001326317 CA1831036 rs768990836 RCV002546176	159	S>T	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs143570667 RCV001233118 CA1831063 RCV002563789	172	S>W	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs775179251 CA1831067 RCV001000880	174	I>F	Retinitis pigmentosa 38 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001331568 rs1573591956 RCV001227761	199	F>L	Retinitis pigmentosa 38 [ClinVar]	Yes	ClinVar dbSNP
RCV001073379 rs1684979540	202	Q>*	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV002562331 rs1240257353 CA348229013 RCV001207067	205	S>N	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000786937 CA348229185 rs1573592033	231	W>S	Retinitis pigmentosa 38 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs770812369 CA1831128 RCV000317399 RCV001057461	237	R>C	Retinitis pigmentosa [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001211760 rs199707021 RCV001129153 CA1831129	237	R>H	Retinitis pigmentosa [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000330591 CA1831170 RCV000594801 rs35252762	258	A>E	Retinitis pigmentosa [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs142284609 RCV000387401 CA1831172 RCV001850774	261	S>T	Retinitis pigmentosa [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001073248 RCV000178915 rs199779970 CA246114	264	A>G	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001075237 CA348231195 rs1374202092	281	K>T	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000986794 CA1831182 RCV000295364 VAR_021041 RCV001521779 rs7588635	282	A>T	Retinitis pigmentosa 38 Retinitis pigmentosa Retinitis pigmentosa (rp) [ClinVar, Ensembl]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA228917 rs34072093 RCV000086965 VAR_021042 RCV001131835	293	R>H	Retinitis pigmentosa [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000225588 rs878853355	313	P>missing	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV000964245 CA1831255 rs34943572 RCV001131836 VAR_051698	329	N>S	Retinitis pigmentosa [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1573613491 RCV001858654 RCV000986795	331	S>missing	Retinitis pigmentosa 38 [ClinVar]	Yes	ClinVar dbSNP
RCV000347356 RCV001417923 rs138908058 CA1831308	421	R>Q	Retinitis pigmentosa [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000729320 RCV000289934 rs142985827 CA1831307	421	R>W	Retinitis pigmentosa [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001230432 RCV001376500 rs776644374 RCV001257898	434	E>missing	Retinitis pigmentosa 38 Autosomal recessive retinitis pigmentosa [ClinVar]	Yes	ClinVar dbSNP
rs1676689811 RCV001257899	446	A>missing	Autosomal recessive retinitis pigmentosa [ClinVar]	Yes	ClinVar dbSNP
CA1831371 RCV002568685 rs148833587 RCV001248501	464	V>I	Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001521780 RCV001775772 RCV000397330 rs7604639 VAR_021043 CA1831374	466	R>K	Retinitis pigmentosa 38 Retinitis pigmentosa [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs79943145 RCV001299809 RCV000302738 RCV001074749 CA1831377	469	V>F	Retinitis pigmentosa Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV002521264 rs145142422 RCV001052569 RCV000341293 CA1831383	479	F>Y	Retinitis pigmentosa Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000398490 rs781442827 RCV001042273 CA1831385	481	P>S	Retinitis pigmentosa [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV002515922 rs527236084 RCV000662015 RCV000132663 CA270098	484	G>S	Retinitis pigmentosa 38 Retinitis pigmentosa Retinitis pigmentosa (rp) [ClinVar, Ensembl]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000999828 VAR_021044 rs35858762 RCV000507786 RCV001132831 CA1831446	498	N>S	Retinitis pigmentosa 38 Retinitis pigmentosa Retinitis pigmentosa (rp) [ClinVar, Ensembl]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA1831458 VAR_021045 RCV001775774 RCV001511192 RCV000354460 rs2230515	518	I>V	Retinitis pigmentosa 38 Retinitis pigmentosa [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000757462 VAR_021046 RCV001136225 rs113485015 CA1831487	540	E>K	Retinitis pigmentosa RP38 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001073453 rs1252719064	550	I>missing	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
CA53576975 rs374078768 RCV001075225 RCV001862846	557	R>P	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000389974 rs867486301 CA10611010 RCV001850775	557	R>W	Retinitis pigmentosa [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001075276 RCV001390478 rs774755041	558	R>*	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
CA1831523 RCV001136227 RCV002556897 rs200794038 RCV002556896	564	L>S	Retinitis pigmentosa Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
rs1676904823 RCV001075473	581	V>*	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV000778561 rs1337364058 RCV001869134	595	E>missing	Retinitis pigmentosa [ClinVar]	Yes	ClinVar dbSNP
RCV001267880 rs1676926630	615	K>*	Retinitis pigmentosa 38 [ClinVar]	Yes	ClinVar dbSNP
rs775460185 TCGA novel CA1831566 RCV000225485	622	K>N	Variant assessed as Somatic; impact. Retinal dystrophy [NCI-TCGA, ClinVar]	Yes	NCI-TCGA ClinGen ClinVar ExAC dbSNP gnomAD
RCV001249884 rs780007963 RCV001053636 CA348233056	623	L>*	Retinitis pigmentosa [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA1831585 rs749774293 RCV001202662 RCV001129258	629	R>W	Retinitis pigmentosa [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA253474 RCV001723542 RCV001257901 rs119489105 RCV000005733 RCV001054980	651	R>*	Autosomal recessive retinitis pigmentosa Retinitis pigmentosa 38 Retinitis pigmentosa 38 (rp38) Retinitis pigmentosa Retinitis pigmentosa (rp) [ClinVar, Ensembl]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
VAR_021047	661	S>C	RP38 [UniProt]	Yes	UniProt
CA53583435 RCV001074197 RCV001862543 rs749028235	680	H>P	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP
RCV001376396 RCV001073414 rs775776288	683	L>missing	Retinitis pigmentosa 38 Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV001856214 RCV000787849 CA348234200 rs775443181	687	R>L	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001129259 rs139822416 RCV000597632 CA1831656	690	T>I	Retinitis pigmentosa Retinitis pigmentosa (rp) [ClinVar, Ensembl]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001001159 rs1573638426 RCV001268553	691	G>missing	Retinitis pigmentosa 38 [ClinVar]	Yes	ClinVar dbSNP
RCV000326642 rs886054759 CA10611911	694	H>R	Retinitis pigmentosa [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs1677288107 RCV001129260	712	E>G	Retinitis pigmentosa [ClinVar]	Yes	ClinVar dbSNP
RCV001074083 RCV001049513 CA1831724 rs756205527	720	L>P	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs778005207 RCV001001044 CA348236872	721	H>P	Retinitis pigmentosa 38 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001268234 RCV001075240 CA1831726 rs749472520	721	H>Q	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs541717028 RCV001074082 RCV001049512 RCV000504691 CA1831727 RCV002289688	722	R>*	Retinitis pigmentosa 38 Retinitis pigmentosa Retinal dystrophy Retinitis pigmentosa (rp) [ClinVar, Ensembl]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs541717028 RCV001073890 RCV002298869	722	R>G	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
CA1831728 RCV001234343 rs147779020 RCV001002460	722	R>Q	Retinitis pigmentosa 38 Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001090264 rs746238212 RCV001073813 CA348236942	727	R>*	Variant assessed as Somatic; 0.0 impact. Retinal dystrophy [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV000504845 rs746238212 CA1831729	727	R>G	Retinitis pigmentosa [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000505072 RCV001383851 CA10581654 RCV000225669 rs878853354	727	R>Q	Retinitis pigmentosa Variant assessed as Somatic; impact. Retinal dystrophy Retinitis pigmentosa (rp) [ClinVar, NCI-TCGA, Ensembl]	Yes	ClinGen ClinVar Ensembl NCI-TCGA dbSNP
RCV000197519 CA278959 rs863224894	731	L>S	Retinitis pigmentosa 38 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs770407830 RCV001062911 CA1831773 RCV002555816	734	D>V	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001257795 rs886039422 RCV000255265	738	C>missing	Autosomal recessive retinitis pigmentosa [ClinVar]	Yes	ClinVar dbSNP
RCV001257904 CA53591400 rs911057284	740	A>V	Autosomal recessive retinitis pigmentosa [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs541892026 RCV001131963 CA1831779	749	Y>D	Retinitis pigmentosa [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
rs786205535 RCV000171305 CA236070 RCV001257796	754	Y>*	Autosomal recessive retinitis pigmentosa [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001365267 RCV001131964 RCV001074748 rs370526555 CA1831789	758	R>H	Variant assessed as Somatic; 0.0 impact. Retinitis pigmentosa Retinal dystrophy [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001854798 RCV000225591 rs878853353 RCV001723812 CA10581655	768	A>T	Retinitis pigmentosa Variant assessed as Somatic; 0.000139 impact. Retinal dystrophy Retinitis pigmentosa (rp) [ClinVar, NCI-TCGA, Ensembl]	Yes	ClinGen ClinVar NCI-TCGA TOPMed dbSNP
RCV000986797 rs778383770 CA1831792	768	A>V	Retinitis pigmentosa 38 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000787914 rs147899488 CA1831793 RCV001055088	769	I>V	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs768529168 RCV001315062 RCV002543663 CA1831797	773	A>T	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs387907314 CA260612 RCV001257797 RCV000030845 RCV001852614	775	R>*	Autosomal recessive retinitis pigmentosa Retinitis pigmentosa 38 Retinitis pigmentosa 38 (rp38) [ClinVar, Ensembl]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs769691218 CA1831817 RCV001038558 RCV001075847	788	V>M	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs757858711 RCV001073595 CA1831828	806	N>K	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs141361084 RCV000727047 RCV001331567 CA1831830 RCV000454548	812	Y>S	Retinitis pigmentosa 38 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs55924349 RCV001055389 RCV001131965 VAR_041747 CA1831835	823	E>Q	Retinitis pigmentosa Retinitis pigmentosa (rp) [ClinVar, Ensembl]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
RCV001199706 rs1677512620	836	C>Y	Retinitis pigmentosa [ClinVar]	Yes	ClinVar dbSNP
RCV000986798 CA1831920 rs746291728 RCV001389819	844	R>C	Retinitis pigmentosa 38 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1342715176 RCV001204045 RCV001376427	860	S>missing	Retinitis pigmentosa 38 [ClinVar]	Yes	ClinVar dbSNP
RCV001482387 rs557004700 RCV001131968 CA1831930	864	V>F	Retinitis pigmentosa [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs557004700 CA1831931 RCV001856705 RCV001131967	864	V>I	Variant assessed as Somatic; 0.0 impact. Retinitis pigmentosa [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA241210 VAR_020285 RCV001132911 rs2230516 RCV001001374 RCV000175453	865	R>W	Retinitis pigmentosa 38 Retinitis pigmentosa Retinitis pigmentosa (rp) [ClinVar, Ensembl]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000292622 RCV001775582 rs2230517 CA180187 VAR_029237 RCV000086963 RCV000153488	870	V>I	Retinitis pigmentosa 38 Retinitis pigmentosa [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs377341255 RCV001075372 CA1831938 RCV001046690 VAR_021048	871	I>T	Retinal dystrophy RP38 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
rs1677520867 RCV001074434	946	S>A	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV000779274 rs763144375	986	L>missing	Retinitis pigmentosa [ClinVar]	Yes	ClinVar dbSNP
rs1424907891 CA348232464	2	G>V		No	ClinGen gnomAD
CA53582060 rs952265047	3	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1297079705 CA348232495	4	A>G		No	ClinGen TOPMed
rs1326403828 CA348232493	4	A>S		No	ClinGen gnomAD
CA348232501 rs1286101631	5	P>A		No	ClinGen gnomAD
rs766821604 CA1830942	5	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1286101631 CA348232503	5	P>S		No	ClinGen gnomAD
CA53582081 rs867971321	8	L>P		No	ClinGen Ensembl
CA348232547 rs1558763288	9	L>M		No	ClinGen Ensembl
RCV001242027 rs766822912	9	L>missing		No	ClinVar dbSNP
rs1573554218 CA348232581	11	G>D		No	ClinGen Ensembl
rs755593299 CA1830945	12	L>F		No	ClinGen ExAC gnomAD
CA1830946 rs777333807	14	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1573554231 CA348232638	15	P>L		No	ClinGen Ensembl
CA1830948 rs756874549	16	A>T		No	ClinGen ExAC gnomAD
rs778704547 CA1830949	17	L>F		No	ClinGen ExAC gnomAD
CA1830950 rs745681896	18	W>C		No	ClinGen ExAC gnomAD
rs1017599113 CA348232676	19	R>H		No	ClinGen TOPMed gnomAD
CA53582099 rs1017599113	19	R>L		No	ClinGen TOPMed gnomAD
rs552509122 CA1830951	20	R>T		No	ClinGen 1000Genomes ExAC gnomAD
rs781350196 CA348225855	23	T>I		No	ClinGen ExAC TOPMed gnomAD
rs781350196 CA1830972	23	T>N		No	ClinGen ExAC TOPMed gnomAD
rs1047217052 CA53560861	25	A>T		No	ClinGen Ensembl
CA348225871 rs1374883963	26	R>K		No	ClinGen gnomAD
CA348225878 rs1223798126	27	E>*		No	ClinGen TOPMed
rs1480349594 CA348225880	27	E>G		No	ClinGen TOPMed
CA1830973 rs748203904	28	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1206954845 CA348225895	29	A>G		No	ClinGen TOPMed
rs1308272767 CA348225904	30	K>N		No	ClinGen TOPMed
rs1167524389 CA348225909	31	P>L		No	ClinGen TOPMed gnomAD
CA53560872 rs928953402	31	P>T		No	ClinGen TOPMed
rs769970062 CA1830974	32	Y>N		No	ClinGen ExAC gnomAD
rs144751432 CA348225919	33	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA1830975 rs773279871	33	P>S		No	ClinGen ExAC TOPMed gnomAD
CA1830981 rs150870104 RCV000955958	36	P>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	37	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1250331085 CA348225944	37	G>V		No	ClinGen gnomAD
rs1684622333 RCV001244024	40	P>L		No	ClinVar dbSNP
CA1830984 rs764842052	44	Q>R		No	ClinGen ExAC gnomAD
CA348226008 rs1558775220	47	H>R		No	ClinGen Ensembl
rs1426789116 CA348226040	52	S>C		No	ClinGen gnomAD
CA348226039 rs1426789116	52	S>F		No	ClinGen gnomAD
rs754922274 CA348226054	55	H>D		No	ClinGen ExAC TOPMed gnomAD
CA53560956 rs781297101	55	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs754922274 CA1830989	55	H>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA53560980 RCV000997191 rs868686893	56	A>T		No	ClinGen ClinVar TOPMed dbSNP
rs1051108169 CA53560988	57	S>N		No	ClinGen TOPMed
CA348226074 rs1291686201	58	G>E		No	ClinGen gnomAD
CA348226071 rs1423887739	58	G>R		No	ClinGen gnomAD
TCGA novel	58	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1291686201 CA348226076	58	G>V		No	ClinGen gnomAD
CA1830992 rs748161559	59	Y>H		No	ClinGen ExAC
CA348226079 rs1573577855	59	Y>S		No	ClinGen Ensembl
rs376885459 CA53561032	60	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed
TCGA novel	61	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs140848545 CA1830993	63	L>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA348226117 rs1573577869	64	M>I		No	ClinGen Ensembl
CA348226109 rs1382285568	64	M>V		No	ClinGen gnomAD
rs1573577881 CA348226127	66	S>P		No	ClinGen Ensembl
CA1830995 rs777970779	67	P>L		No	ClinGen ExAC gnomAD
CA1830994 rs777970779	67	P>R		No	ClinGen ExAC gnomAD
RCV001245705 rs138557708 CA1830996	68	T>A		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs138557708 CA348226136	68	T>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs772473965 CA1830999	70	P>T		No	ClinGen ExAC
rs775945628 CA1831000	71	G>E		No	ClinGen ExAC gnomAD
CA348226162 rs1573577902	72	R>S		No	ClinGen Ensembl
rs1573577906 CA348226169	73	P>L		No	ClinGen Ensembl
rs1558775308 CA348226173	74	H>R		No	ClinGen Ensembl
rs987310111 CA53561101	74	H>Y		No	ClinGen Ensembl
rs1573577923 CA348226192	77	N>T		No	ClinGen Ensembl
CA1831002 rs764637670	78	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA348226197 rs764637670 CA1831003	78	V>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	80	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762443324 CA1831004	80	I>V		No	ClinGen ExAC gnomAD
CA348226218 rs1246281095	81	P>L		No	ClinGen gnomAD
RCV001295810 rs1684624760	84	T>N		No	ClinVar dbSNP
CA53561131 rs751346459	87	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
RCV001204116 rs751346459 CA1831006	87	E>Q		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs372527246 CA348226261	88	S>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs199912096 CA1831009	90	P>H		No	ClinGen ExAC TOPMed gnomAD
CA348226273 rs199912096	90	P>R		No	ClinGen ExAC TOPMed gnomAD
rs767490861 CA1831008	90	P>S		No	ClinGen ExAC TOPMed gnomAD
RCV000175825 CA241612 rs200985967	92	P>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA348226282 rs200985967	92	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1831012 rs749418505	93	P>L		No	ClinGen ExAC gnomAD
CA348226321 rs1309608174	98	H>L		No	ClinGen TOPMed gnomAD
CA348226322 rs1309608174	98	H>R		No	ClinGen TOPMed gnomAD
RCV001054659 CA53561191 rs1047248515	101	G>A		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA348226344 rs1238990844	102	H>Y		No	ClinGen gnomAD
rs779086053 RCV001342627 CA1831015	103	I>M		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA348226351 rs1462807457	103	I>V		No	ClinGen TOPMed
CA348226365 rs1204446145	105	L>F		No	ClinGen TOPMed gnomAD
CA53561192 rs928776839	106	S>P		No	ClinGen Ensembl
CA348226382 rs938838433	108	H>N		No	ClinGen TOPMed gnomAD
rs1241011026 CA348226388	108	H>Q		No	ClinGen TOPMed
rs938838433 CA53561199	108	H>Y		No	ClinGen TOPMed gnomAD
CA1831016 rs746128532	109	K>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	109	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs143388544 CA348226398	110	G>D		No	ClinGen ESP TOPMed
CA53561230 rs143388544	110	G>V		No	ClinGen ESP TOPMed
CA53561255 rs981354168	113	F>C		No	ClinGen TOPMed
rs1463598568 CA348226414	113	F>I		No	ClinGen gnomAD
TCGA novel	115	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV001295582 rs139327260 CA1831019	119	V>I		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA348226485 rs139327260	119	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs796928519 CA53561317	120	P>S		No	ClinGen TOPMed gnomAD
rs755136813 CA53561319	121	N>D		No	ClinGen Ensembl
RCV001349259 rs772554501 CA1831020	121	N>S		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA53561330 rs984856838	122	I>V		No	ClinGen TOPMed gnomAD
rs762570588 CA1831021	126	T>I		No	ClinGen ExAC gnomAD
RCV001348564 rs774145774 CA1831023	127	T>S		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA348226584 rs1573578108	128	I>V		No	ClinGen Ensembl
rs1262596828 CA348226613	130	W>*		No	ClinGen gnomAD
CA348226603 rs1224199656	130	W>R		No	ClinGen gnomAD
CA348226621 rs1310606413	131	W>*		No	ClinGen gnomAD
rs767366160 CA1831025	134	G>E		No	ClinGen ExAC gnomAD
CA348226670 rs1214570160	135	K>E		No	ClinGen gnomAD
CA348226690 rs1480823765	136	E>D		No	ClinGen gnomAD
rs752543013 CA1831026	137	L>M		No	ClinGen ExAC gnomAD
rs1573578144 CA348226720	139	G>A		No	ClinGen Ensembl
rs1192670334 CA348226717	139	G>R		No	ClinGen TOPMed
rs1259389572 CA348226729	140	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA1831029 rs753768681	141	H>Q		No	ClinGen ExAC gnomAD
rs1423880935 CA348226737	141	H>Y		No	ClinGen TOPMed gnomAD
rs1290900394 CA348226746	142	H>D		No	ClinGen TOPMed
CA1831030 rs757295748	143	A>T		No	ClinGen ExAC gnomAD
rs1461788401 CA348226789	146	Q>*		No	ClinGen gnomAD
CA1831031 rs779030836	150	D>V		No	ClinGen ExAC gnomAD
rs1347867134 CA348226849	151	D>N		No	ClinGen gnomAD
rs373445297 CA53561466	155	A>T		No	ClinGen ESP
rs780214104 CA1831034	158	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1831035 rs747428653	158	A>V		No	ClinGen ExAC gnomAD
rs374645167 CA1831038	161	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	161	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1831058 rs780341439	164	S>G		No	ClinGen ExAC gnomAD
CA348228360 rs751775589	166	Q>L		No	ClinGen ExAC TOPMed gnomAD
CA1831059 RCV001351168 rs751775589	166	Q>R		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA1831060 rs755335718 RCV001203409	167	R>C		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001232968 CA1831061 rs781470358	167	R>H		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA1831062 rs748610825	168	S>*		No	ClinGen ExAC gnomAD
rs1386756929 CA348228368	168	S>T		No	ClinGen gnomAD
TCGA novel	169	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs143570667 CA1831064	172	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs771533393 CA1831066	173	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA348228411 rs1433036215	174	I>M		No	ClinGen TOPMed gnomAD
CA1831069 rs760310008	175	C>F		No	ClinGen ExAC gnomAD
CA1831068 rs760310008 RCV001301055	175	C>Y		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs776424157 CA1831070 RCV001348782	176	K>Q		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs761671630 CA1831071	176	K>T		No	ClinGen ExAC gnomAD
TCGA novel	177	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1328343335 CA348228424	177	M>L		No	ClinGen gnomAD
rs765186776 CA1831072	177	M>T		No	ClinGen ExAC gnomAD
rs750449988 CA1831073	179	I>T		No	ClinGen ExAC gnomAD
rs1020886089 CA53569828	179	I>V		No	ClinGen TOPMed
rs1176389109 CA348228448	180	N>S		No	ClinGen TOPMed
CA1831074 rs763064062	180	N>Y		No	ClinGen ExAC
CA1831075 rs766406964	181	N>S		No	ClinGen ExAC gnomAD
rs1468681719 CA348228465	182	E>D		No	ClinGen TOPMed
rs1284302800 CA348228463	182	E>G		No	ClinGen gnomAD
CA1831077 rs751795763	183	E>D		No	ClinGen ExAC gnomAD
CA1831079 rs148690514	184	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
VAR_041741 CA1831081 rs56205303	185	V>M		No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
rs749853394 CA1831082	186	S>Y		No	ClinGen ExAC gnomAD
rs1179161665 CA348228509	189	I>M		No	ClinGen TOPMed
rs201529080 RCV001203906 CA1831084	189	I>V		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs746612496 CA1831085	190	Y>N		No	ClinGen ExAC
rs776368722 CA1831087	191	I>F		No	ClinGen ExAC TOPMed gnomAD
rs747955805 CA348228521	191	I>M		No	ClinGen ExAC gnomAD
rs776368722 CA53569853	191	I>V		No	ClinGen ExAC TOPMed gnomAD
CA53569864 rs953052713	192	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA1831110 rs749184467	196	L>H		No	ClinGen ExAC gnomAD
rs770809648 CA1831111	198	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs1242718288 CA348228968	199	F>I		No	ClinGen TOPMed
TCGA novel	199	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1831113 rs759512756	203	P>L		No	ClinGen ExAC TOPMed gnomAD
rs200198573 CA53570920	205	S>G		No	ClinGen 1000Genomes
rs1240257353 CA348229014	205	S>T		No	ClinGen TOPMed gnomAD
rs1202269360 CA348229019	206	M>V		No	ClinGen gnomAD
rs933552461 CA53570921	207	N>S		No	ClinGen TOPMed gnomAD
rs140249054 CA1831114 RCV001296478	209	T>I		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	211	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348229054 rs1196928793	211	N>Y		No	ClinGen gnomAD
CA348229063 rs1374932437	212	T>K		No	ClinGen gnomAD
CA348229074 VAR_067194 rs1475870132	214	F>V	found in a patient with Leber congenital amaurosis [UniProt]	No	ClinGen UniProt dbSNP gnomAD
CA1831115 rs775853257	216	L>V		No	ClinGen ExAC gnomAD
CA1831116 rs761037509	217	T>I		No	ClinGen ExAC gnomAD
CA348229093 rs1573591993	217	T>P		No	ClinGen Ensembl
RCV001235827 rs146962542 CA1831117	220	A>G		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs376228438 CA348229119	221	V>L		No	ClinGen ESP ExAC gnomAD
CA1831118 rs376228438	221	V>M		No	ClinGen ESP ExAC gnomAD
rs765685308 CA1831120	223	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA348229145 rs1474270824	225	E>G		No	ClinGen gnomAD
rs1327772385 CA348229142	225	E>Q		No	ClinGen gnomAD
CA1831122 rs754449601	226	P>T		No	ClinGen ExAC gnomAD
rs752330878 CA1831124	227	V>I		No	ClinGen ExAC TOPMed gnomAD
rs377346429 CA1831125	228	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA348229192 rs1573592036	232	V>F		No	ClinGen Ensembl
CA348229213 rs1208075407	235	S>G		No	ClinGen gnomAD
rs1163987038 CA348229217	235	S>N		No	ClinGen TOPMed
CA1831127 rs749064163	236	S>G		No	ClinGen ExAC TOPMed gnomAD
CA348229224 rs1447758333	236	S>I		No	ClinGen TOPMed gnomAD
CA348229222 rs1447758333	236	S>N		No	ClinGen TOPMed gnomAD
rs770812369 CA348229227	237	R>S		No	ClinGen ExAC TOPMed gnomAD
CA53570974 rs868703580	240	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA348229283 rs1243234874	245	S>P		No	ClinGen TOPMed
CA348229291 rs772266293	246	P>H		No	ClinGen ExAC gnomAD
CA1831132 rs772266293	246	P>L		No	ClinGen ExAC gnomAD
TCGA novel	248	V>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1831135 RCV001320229 rs769030123	248	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA1831137 rs762058694	250	T>A		No	ClinGen ExAC TOPMed gnomAD
CA348229348 rs1362662536	251	V>L		No	ClinGen TOPMed gnomAD
CA1831139 rs765670491	252	P>L		No	ClinGen ExAC
rs1482794875 CA348230782	255	T>K		No	ClinGen TOPMed gnomAD
rs1482794875 CA348230785	255	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs764872103 CA1831167	256	E>Q		No	ClinGen ExAC gnomAD
rs1558788991 CA348230805	257	M>T		No	ClinGen Ensembl
CA1831168 rs750272911	257	M>V		No	ClinGen ExAC gnomAD
CA1831169 RCV001040912 rs35252762	258	A>V		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs142284609 CA348230856	261	S>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1831171 RCV000955959 rs142284609	261	S>N		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1007621513 CA53581864	262	C>G		No	ClinGen TOPMed
RCV001247355 rs1685337706	264	A>T		No	ClinVar dbSNP
CA1831174 rs770088838 RCV001339084	266	N>S		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1409773100 CA348230931	267	D>G		No	ClinGen gnomAD
CA1831177 rs140065278	272	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
RCV000732346 rs140065278 CA1831176	272	V>M		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1219943028 CA348231040	274	K>*		No	ClinGen gnomAD
rs774835500 CA1831178	274	K>R		No	ClinGen ExAC gnomAD
rs760095443 CA1831179	278	I>F		No	ClinGen ExAC gnomAD
CA348231188 rs1276535452	280	I>M		No	ClinGen gnomAD
CA1831181 rs776211902	281	K>Q		No	ClinGen ExAC gnomAD
CA1831209 rs772663707	282	A>E		No	ClinGen ExAC gnomAD
rs7588635 CA348231201	282	A>S	Retinitis pigmentosa (rp) [Ensembl]	No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs772663707 CA348231863	282	A>V		No	ClinGen ExAC gnomAD
CA53583412 rs900547007	284	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1244644651 CA348231893	285	S>F		No	ClinGen TOPMed
rs1437427521 CA348231903	286	P>L		No	ClinGen gnomAD
rs1437427521 CA348231901	286	P>R		No	ClinGen gnomAD
CA1831213 RCV001202330 rs145602430	286	P>S		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA1831212 rs145602430	286	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1321451294 CA348231909	287	P>L		No	ClinGen gnomAD
VAR_041742 CA1831215 rs766215580	289	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen UniProt ExAC NCI-TCGA dbSNP gnomAD
rs1289109857 CA348231957	292	I>M		No	ClinGen TOPMed gnomAD
rs767470815 CA1831218	292	I>V		No	ClinGen ExAC gnomAD
RCV001338684 rs369655379 CA1831219	293	R>C	Variant assessed as Somatic; 0.0002772 impact. [NCI-TCGA]	No	ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs777888162 CA348232000	294	N>D		No	ClinGen ExAC TOPMed gnomAD
CA1831221 rs777888162	294	N>H		No	ClinGen ExAC TOPMed gnomAD
rs746561089 CA53583446	295	S>R		No	ClinGen TOPMed gnomAD
CA1831222 rs754002130	296	T>I		No	ClinGen ExAC gnomAD
rs1440656248 CA348232089	298	H>R		No	ClinGen gnomAD
CA348232120 rs1015124151	300	I>F		No	ClinGen TOPMed
CA53583452 rs1015124151	300	I>L		No	ClinGen TOPMed
CA1831224 rs779211043	304	W>*		No	ClinGen ExAC gnomAD
CA1831226 rs772369621	307	G>D		No	ClinGen ExAC gnomAD
RCV001350695 CA1831225 rs770131096	307	G>S		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA348232311 rs1163160240	310	G>V		No	ClinGen gnomAD
rs780578672 CA1831227	313	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs780578672 CA348232359	313	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1388106494 CA348232367	314	F>L		No	ClinGen gnomAD
CA1831229 rs769412036	315	R>G		No	ClinGen ExAC TOPMed gnomAD
rs886871857 CA53583482	315	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs772859324 CA1831230	318	S>G		No	ClinGen ExAC gnomAD
rs1276242656 CA348233219	322	K>E		No	ClinGen gnomAD
CA53587889 rs1019443525	323	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA1831250 rs748786937	326	P>A		No	ClinGen ExAC TOPMed gnomAD
CA1831251 rs561718480	326	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs561718480 CA348233288	326	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1831254 rs759172948	329	N>D		No	ClinGen ExAC gnomAD
rs1238033369 CA348233354	330	G>D		No	ClinGen TOPMed
rs1256588547 CA348233346	330	G>S		No	ClinGen TOPMed
CA348233358 rs1471644741	331	S>T		No	ClinGen gnomAD
CA348233381 rs1378359073	333	M>V		No	ClinGen TOPMed gnomAD
CA53587945 rs200167805	335	F>S		No	ClinGen Ensembl
CA348233435 rs1477831948	336	N>T		No	ClinGen gnomAD
RCV001053109 rs775153333 CA1831256	337	T>I		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs1373357563 CA348233442	337	T>S		No	ClinGen gnomAD
CA1831257 rs760569673	339	A>V		No	ClinGen ExAC gnomAD
rs892521266 CA53587946	341	P>A		No	ClinGen TOPMed
rs1369942191 CA348233466	341	P>Q		No	ClinGen gnomAD
rs1334100908 CA348233492	345	Q>E		No	ClinGen TOPMed
CA1831258 rs764044468	345	Q>R		No	ClinGen ExAC gnomAD
CA348233504 rs1470706820	347	K>Q		No	ClinGen TOPMed
CA1831260 rs776597215	348	Q>L		No	ClinGen ExAC gnomAD
CA1831263 rs142060697	353	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA1831264 rs758562603	354	N>S		No	ClinGen ExAC TOPMed gnomAD
rs758562603 CA1831265	354	N>T		No	ClinGen ExAC TOPMed gnomAD
CA348233560 rs1573613540	355	Y>H		No	ClinGen Ensembl
rs113052219 CA53588002	358	G>S		No	ClinGen gnomAD
rs1676226910 RCV001307637	361	C>Y		No	ClinVar dbSNP
RCV001070895 CA1831267 rs151145412	362	M>L		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1365946093 CA348233663	363	N>S		No	ClinGen TOPMed
rs868566811 CA53588021	364	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA1831268 rs781756280	365	I>V		No	ClinGen ExAC gnomAD
TCGA novel	367	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1196991330 CA348233727	368	S>F		No	ClinGen gnomAD
CA1831270 rs756814656	369	A>V		No	ClinGen ExAC TOPMed gnomAD
rs953412461 CA53588028	372	P>S		No	ClinGen Ensembl
CA348233785 rs1185497806	373	W>*		No	ClinGen TOPMed
rs369339515 CA53588060	376	A>V		No	ClinGen ESP TOPMed gnomAD
CA348233825 CA1831271 rs778299669	377	S>R		No	ClinGen ExAC TOPMed gnomAD
CA348233836 rs745461381	378	T>K		No	ClinGen ExAC gnomAD
CA1831272 RCV001316128 rs745461381	378	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD
CA1831275 rs746786777	380	E>D		No	ClinGen ExAC gnomAD
rs768477896 CA1831276	381	G>V		No	ClinGen ExAC gnomAD
TCGA novel	382	A>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1398213148 CA348235187	382	A>V		No	ClinGen gnomAD
CA1831289 rs756697997	384	S>P		No	ClinGen ExAC gnomAD
rs1676399795 RCV001245560	386	A>G		No	ClinVar dbSNP
rs778449521 CA1831290	387	P>L		No	ClinGen ExAC
RCV001041895 CA1831291 rs745396071	389	N>Y		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA348235320 rs1270116423	391	T>A		No	ClinGen TOPMed gnomAD
rs1345105578 CA348235327	392	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs757978161 CA1831293	395	N>S		No	ClinGen ExAC TOPMed gnomAD
CA348235402 rs1237438827	396	E>D		No	ClinGen TOPMed
CA1831294 rs779539292	402	D>H		No	ClinGen ExAC gnomAD
rs143584038 CA1831295	403	I>L		No	ClinGen 1000Genomes ExAC gnomAD
rs143584038 CA348235455	403	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA1831296 rs377752022	406	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1160743414 CA348235534	407	K>T		No	ClinGen Ensembl
CA1831297 rs776420043	408	P>A		No	ClinGen ExAC TOPMed gnomAD
rs147166671 CA1831298	408	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs776420043 CA348235551	408	P>S		No	ClinGen ExAC TOPMed gnomAD
rs769649370 CA1831299	409	P>L		No	ClinGen ExAC TOPMed gnomAD
rs769649370 CA348235571	409	P>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	409	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1831300 rs3761698	410	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs762917462 CA1831301	411	K>N		No	ClinGen ExAC TOPMed gnomAD
rs771110902 CA1831302	413	Q>*		No	ClinGen ExAC gnomAD
CA348235652 rs771110902	413	Q>E		No	ClinGen ExAC gnomAD
rs1676401069 RCV001212369	413	Q>L		No	ClinVar dbSNP
TCGA novel	414	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs370278504 CA1831303	414	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	415	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	416	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759851635 CA1831304	416	E>V		No	ClinGen ExAC gnomAD
CA348235723 rs1324077557	418	V>M		No	ClinGen gnomAD
rs753147230 CA1831306	420	Y>H		No	ClinGen ExAC gnomAD
CA1831309 rs573038792	422	I>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1227927694 CA348235804	423	S>P		No	ClinGen gnomAD
rs747244747 CA1831310 CA53592456	424	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs1211908818 CA348235841	425	V>A		No	ClinGen gnomAD
RCV001300054 rs1211908818	425	V>E		No	ClinVar dbSNP
CA1831312 RCV001237493 rs751150587	425	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD
rs555016686 CA1831314	428	S>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1353406119 CA348235899	429	A>T		No	ClinGen TOPMed
RCV001308997 rs374989199 CA1831315	429	A>V		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	430	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1831317 rs777568948	431	I>S		No	ClinGen ExAC gnomAD
rs777568948 CA1831318	431	I>T		No	ClinGen ExAC gnomAD
rs765755284 CA1831352	435	L>I		No	ClinGen ExAC gnomAD
rs773755391 CA1831353	437	E>Q		No	ClinGen ExAC gnomAD
CA348229860 rs1438363133	438	E>A		No	ClinGen gnomAD
RCV001240716 rs767073529 CA1831355	439	V>A		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs759014180 CA1831354	439	V>F		No	ClinGen ExAC gnomAD
rs1213886838 CA348229877	441	Q>*		No	ClinGen gnomAD
CA348229892 rs1270854897	443	G>C		No	ClinGen gnomAD
rs1282621691 CA348229896	443	G>V		No	ClinGen TOPMed
CA1831356 rs752234092	444	S>R		No	ClinGen ExAC gnomAD
rs202242962 CA1831357 RCV001235071	445	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
VAR_041743	446	A>G	a renal clear cell carcinoma sample; somatic mutation [UniProt]	No	UniProt
CA1831359 rs753693755	447	R>Q		No	ClinGen ExAC gnomAD
rs370577205 CA1831358	447	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1573626984 CA348229918	448	I>V		No	ClinGen Ensembl
rs1190857249 CA348229928	449	S>C		No	ClinGen gnomAD
rs34010621 CA1831361	452	V>F		No	ClinGen ExAC TOPMed gnomAD
VAR_041744 rs34010621 CA1831362	452	V>L		No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
CA348229952 rs1416665110	453	H>R		No	ClinGen TOPMed gnomAD
rs1329166064 CA348229971	456	T>A		No	ClinGen TOPMed
CA1831363 rs754428081 RCV001038816	456	T>M		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1329166064 CA348229970	456	T>P		No	ClinGen TOPMed
rs1245959105 CA348229980	457	C>F		No	ClinGen TOPMed gnomAD
rs1245959105 CA348229978 RCV001211540	457	C>Y		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs768951091 CA1831366	458	T>A		No	ClinGen ExAC TOPMed gnomAD
rs556417937 CA1831367	458	T>I		No	ClinGen 1000Genomes ExAC gnomAD
CA348230009 rs1573627035	462	A>S		No	ClinGen Ensembl
rs770181926 CA1831369	463	A>G		No	ClinGen ExAC gnomAD
rs386649210 CA53572600	466	R>E		No	ClinGen Ensembl
rs571358159 CA1831373 RCV000997193	466	R>G		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs7604639 CA348230031	466	R>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA53572625 rs368219980	467	G>E		No	ClinGen ESP TOPMed gnomAD
CA53572630 rs368219980	467	G>V		No	ClinGen ESP TOPMed gnomAD
CA1831376 rs763782785 RCV001202263	467	G>W		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1214184270 CA348230041	468	G>E		No	ClinGen gnomAD
rs79943145 CA1831378	469	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1279974539 CA348230051	470	G>A		No	ClinGen TOPMed
CA348230053 rs1187256688	471	P>S		No	ClinGen gnomAD
CA348230068 rs1473640939	473	S>G		No	ClinGen TOPMed gnomAD
rs1473640939 CA348230067	473	S>R		No	ClinGen TOPMed gnomAD
CA348230085 rs1160161657	475	P>A		No	ClinGen gnomAD
rs1353252600 CA348230088	475	P>L		No	ClinGen TOPMed
CA1831381 rs758412728	476	V>L		No	ClinGen ExAC gnomAD
CA348230089 rs758412728	476	V>M		No	ClinGen ExAC gnomAD
CA348230100 rs1414885918	477	K>N		No	ClinGen TOPMed
rs145142422 CA348230112	479	F>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs755062622 CA1831384	480	I>M		No	ClinGen ExAC gnomAD
CA1831386 rs374488598	482	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs540628681	483	H>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA348230941 rs1294031444	487	D>N		No	ClinGen gnomAD
CA1831438 rs140650643	489	A>S		No	ClinGen ESP ExAC gnomAD
rs946682230 CA53574341	489	A>V		No	ClinGen gnomAD
TCGA novel	490	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1676768163 RCV001202332	490	P>L		No	ClinVar dbSNP
TCGA novel	490	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	491	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA53574342 rs978397888	491	S>T		No	ClinGen TOPMed
rs775447198 CA1831439	493	T>A		No	ClinGen ExAC TOPMed gnomAD
CA348231072 rs775447198	493	T>P		No	ClinGen ExAC TOPMed gnomAD
CA1831440 rs760743544	494	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1831442 rs754004173	495	A>V		No	ClinGen ExAC TOPMed gnomAD
rs765594435 CA1831444	496	P>L		No	ClinGen ExAC gnomAD
RCV001245354 rs750772995 CA1831445	497	G>S		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs386649211 CA53574375	498	N>S		No	ClinGen Ensembl
rs147206385 RCV001321446 CA1831448	499	A>T		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1454623859 CA348231238	500	D>E		No	ClinGen gnomAD
rs895064344 CA53574409	502	V>M		No	ClinGen TOPMed
rs1676769706 RCV001234661	503	L>I		No	ClinVar dbSNP
CA1831450 rs777433490	504	I>V		No	ClinGen ExAC gnomAD
TCGA novel	505	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348231303 rs748932248	505	I>S		No	ClinGen ExAC TOPMed gnomAD
rs1676769913 RCV001300654	505	I>missing		No	ClinVar dbSNP
CA1831451 rs748932248	505	I>T		No	ClinGen ExAC TOPMed gnomAD
CA348231299 rs1180321124 RCV001071860	505	I>V		No	ClinGen ClinVar dbSNP gnomAD
rs770513563 CA1831452	506	F>V		No	ClinGen ExAC TOPMed gnomAD
CA53574428 rs1046528455	507	G>D		No	ClinGen TOPMed gnomAD
rs1573629444 CA348231370	510	C>Y		No	ClinGen Ensembl
CA348231394 rs1290441519	512	F>I		No	ClinGen gnomAD
TCGA novel	514	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1831455 rs771925128	514	L>S		No	ClinGen ExAC TOPMed gnomAD
rs2230515 CA348231460	518	I>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1258152779 CA348231465	518	I>T		No	ClinGen gnomAD
CA1831459 rs374649522 RCV001090263	520	Y>C		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1185246535 CA348231498	521	I>T		No	ClinGen gnomAD
rs1234980201 CA348231492	521	I>V		No	ClinGen TOPMed
rs762042104 CA1831460	522	S>F		No	ClinGen ExAC gnomAD
rs1419350531 CA348231529	524	A>V		No	ClinGen gnomAD
CA1831461 rs765352808	525	I>N		No	ClinGen ExAC gnomAD
CA348231594 rs1467916312	531	E>G		No	ClinGen gnomAD
rs866004183 CA53574456	532	T>A		No	ClinGen Ensembl
rs753315690 CA1831485	538	F>V		No	ClinGen ExAC gnomAD
rs756711056 CA1831486	539	T>A		No	ClinGen ExAC gnomAD
CA1831488 rs749981811	540	E>G		No	ClinGen ExAC gnomAD
rs758082617 CA1831489	542	D>Y		No	ClinGen ExAC gnomAD
rs779773032 CA1831490	544	E>K		No	ClinGen ExAC gnomAD
CA348232157 rs1178674112	547	V>M		No	ClinGen TOPMed
rs769702665 CA1831495	549	Y>F		No	ClinGen ExAC
CA1831496 rs773346031	550	I>M		No	ClinGen ExAC TOPMed gnomAD
CA348232218 rs1460505042	550	I>T		No	ClinGen TOPMed
CA53576938 rs1010192314	550	I>V		No	ClinGen gnomAD
CA348232231 rs1202774125	551	A>V		No	ClinGen TOPMed
CA53576969 rs867179424	554	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
RCV001307968 rs374078768 CA1831498	557	R>Q		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA1831499 rs774755041	558	R>G		No	ClinGen ExAC gnomAD
CA1831500 rs759976333 RCV001203581	558	R>Q		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA1831501 rs767984612	560	I>V		No	ClinGen ExAC gnomAD
CA1831502 rs753090513	561	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1338782600 RCV001206706	562	L>F		No	ClinVar dbSNP
rs1338782600 CA348232326	562	L>I		No	ClinGen TOPMed
CA348232434 rs1292286994	565	H>R		No	ClinGen TOPMed gnomAD
rs1332297290 CA348232466	567	L>F		No	ClinGen gnomAD
rs775958675 CA1831524	568	G>E		No	ClinGen ExAC TOPMed gnomAD
CA1831525 rs201392053	569	V>I		No	ClinGen ExAC gnomAD
CA53578499 rs373307689	570	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs373307689 CA1831527	570	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs143925029 CA1831528	572	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs997163171 CA53578509	573	L>V		No	ClinGen TOPMed
rs1259415865 CA348232555	576	K>I		No	ClinGen TOPMed
rs1255646263	581	V>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1240027562 CA348232629	582	I>T		No	ClinGen TOPMed
CA348232624 rs1487736701	582	I>V		No	ClinGen TOPMed
CA53578529 rs927770764	585	N>D		No	ClinGen TOPMed gnomAD
rs1558803620 CA348232691	586	L>R		No	ClinGen Ensembl
CA1831533 rs767176967	588	I>F		No	ClinGen ExAC gnomAD
rs752559221 CA1831534	589	L>R		No	ClinGen ExAC gnomAD
RCV001344807 rs1676906017	595	E>V		No	ClinVar dbSNP
TCGA novel	596	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348232804 rs1254599867	601	V>L		No	ClinGen TOPMed gnomAD
TCGA novel	606	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1220027092 CA348232850	607	K>R		No	ClinGen gnomAD
rs1192864020 RCV001247736 CA348232857	608	Q>P		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA53579317 rs568271458	610	D>G		No	ClinGen 1000Genomes
rs1234835542 CA348232870	610	D>N		No	ClinGen TOPMed
rs747249391 CA1831562	618	V>L		No	ClinGen ExAC TOPMed gnomAD
rs368347736 CA1831565	621	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1333829849 CA348232940	621	M>V		No	ClinGen gnomAD
CA1831578 RCV001302516 rs780007963	623	L>S		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
TCGA novel	623	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751734405 CA1831579	624	D>E		No	ClinGen ExAC gnomAD
RCV001327928 rs1677028116	624	D>H		No	ClinVar dbSNP
rs755221937 CA1831580	625	N>S		No	ClinGen ExAC TOPMed gnomAD
CA1831581 rs755221937	625	N>T		No	ClinGen ExAC TOPMed gnomAD
CA1831583 rs561024743	627	S>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1831582 rs561024743	627	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA348233127 rs1262393075 RCV001347620	629	R>Q		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA348233139 rs1189518387	630	E>V		No	ClinGen gnomAD
CA348233157 rs543947091	631	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	632	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs376129675 CA222925 RCV000723711	632	E>K		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1162296660 CA348233173	633	E>K		No	ClinGen gnomAD
rs746614077 CA1831587	636	S>G		No	ClinGen ExAC gnomAD
CA1831588 rs768404989	636	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1357209792 CA348233241	638	A>V		No	ClinGen TOPMed
TCGA novel	641	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776467961 CA1831589	641	M>L		No	ClinGen ExAC gnomAD
rs761691719 CA1831590	641	M>T		No	ClinGen ExAC gnomAD
CA1831591 rs765178143	642	K>T		No	ClinGen ExAC gnomAD
rs773141019 CA1831592	644	F>C		No	ClinGen ExAC gnomAD
rs773141019 CA348233308	644	F>Y		No	ClinGen ExAC gnomAD
rs1268096628 CA348233316	645	S>G		No	ClinGen TOPMed
RCV001323107 rs1677030361	647	P>S		No	ClinVar dbSNP
rs762802342 CA1831593	648	N>H		No	ClinGen ExAC gnomAD
CA1831594 rs751612086	651	R>Q		No	ClinGen ExAC gnomAD
rs201578313 CA53582433	653	L>P		No	ClinGen 1000Genomes
rs1351481669 CA348233425	654	G>C		No	ClinGen gnomAD
rs1573638319 CA348233971	655	V>E		No	ClinGen Ensembl
rs754159862 CA1831637	655	V>M		No	ClinGen ExAC TOPMed gnomAD
CA1831638 rs762075219	657	I>V		No	ClinGen ExAC gnomAD
rs1374925525 CA348233997	659	M>V		No	ClinGen TOPMed
rs375952233 CA53583389	661	S>F		No	ClinGen ESP TOPMed
rs56209758 RCV000757463 VAR_041745 CA1831639	662	Q>E		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs759001809 CA1831641	665	P>L		No	ClinGen ExAC gnomAD
RCV001221849 rs757089087 CA1831642	666	K>N		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA348234059 rs1361963099	666	K>Q		No	ClinGen gnomAD
TCGA novel	667	P>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA53583402 rs967593506	668	M>L		No	ClinGen TOPMed gnomAD
CA53583403 rs947657821 RCV001064659	670	I>N		No	ClinGen ClinVar Ensembl dbSNP
rs1573638351 CA348234099	672	P>T		No	ClinGen Ensembl
rs1336559635 CA535187148	673	F>LGTA*		No	ClinGen gnomAD
CA348234126 rs1558806052	675	K>R		No	ClinGen Ensembl
rs903355366 CA53583419	677	G>E		No	ClinGen gnomAD
CA1831644 rs755689637	677	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA348234139 rs755689637	677	G>W		No	ClinGen ExAC TOPMed gnomAD
CA53583429 rs998946514	678	D>G		No	ClinGen Ensembl
CA1831648 rs377006926	680	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs749028235 CA1831647	680	H>R		No	ClinGen ExAC
CA1831651 rs370309420	684	L>P		No	ClinGen ESP ExAC gnomAD
CA1831652 RCV001054507 rs771972540	685	Y>H		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA53583478 rs890181032	686	S>C		No	ClinGen Ensembl
rs1553458060 CA348234198 RCV000657795	687	R>*		No	ClinGen ClinVar Ensembl dbSNP
rs775443181 CA1831653	687	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA348234208 rs1280013318	689	E>K		No	ClinGen TOPMed
rs1356850807 CA348234233	693	K>Q		No	ClinGen gnomAD
rs768035521 CA1831713	694	H>D		No	ClinGen ExAC TOPMed gnomAD
CA348236425 rs1302632924	696	P>S		No	ClinGen TOPMed
CA1831714 rs775924652	697	L>V		No	ClinGen ExAC gnomAD
rs761295704 CA1831715	698	Q>K		No	ClinGen ExAC gnomAD
CA1831716 rs373570386	698	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs758082793 CA1831718	701	L>S		No	ClinGen ExAC gnomAD
rs751349653 CA1831720	704	M>I		No	ClinGen ExAC gnomAD
CA348236561 rs1573646143	705	V>M		No	ClinGen Ensembl
CA348236577 rs1170946687	706	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
VAR_041746	708	A>S	a head & Neck squamous cell carcinoma sample; somatic mutation [UniProt]	No	UniProt
CA348236659 rs1422549500	710	G>E		No	ClinGen gnomAD
CA348236680 RCV001317818 rs1326352012	711	M>I		No	ClinGen ClinVar TOPMed dbSNP
rs1391947484 CA348236752	715	S>N		No	ClinGen gnomAD
CA53590014 rs1033920088	717	R>G		No	ClinGen TOPMed
rs752742185 CA1831723	718	N>S		No	ClinGen ExAC gnomAD
rs778005207 CA1831725	721	H>R		No	ClinGen ExAC gnomAD
CA348236939 rs1266946198	726	A>G		No	ClinGen gnomAD
rs1209105449 CA348237019	730	M>T		No	ClinGen gnomAD
CA53591319 rs890258715	732	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
RCV001064181 CA1831771 rs201621067	732	R>Q		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA348238684 rs1217670773	733	D>E		No	ClinGen gnomAD
rs1573648039 CA348238677	733	D>G		No	ClinGen Ensembl
CA1831772 rs201840939	733	D>H		No	ClinGen 1000Genomes ExAC gnomAD
rs1265440323 CA348238719	735	M>I		No	ClinGen gnomAD
RCV001237438 CA1831774 rs150046180	735	M>T		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA348238735 rs1573648065	736	T>S		No	ClinGen Ensembl
CA348238759 rs1264128273	737	V>G		No	ClinGen gnomAD
CA348238745 rs142721656	737	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1831775 rs142721656	737	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
RCV001049056 rs1487540503	738	C>missing		No	ClinVar dbSNP
CA348238791 RCV000592444 rs1553459668	738	C>W		No	ClinGen ClinVar Ensembl dbSNP
rs1477593032 CA348238821	740	A>S		No	ClinGen gnomAD
rs775348346 CA1831777	741	D>G		No	ClinGen ExAC gnomAD
RCV001043628 rs1677347565	743	G>missing		No	ClinVar dbSNP
rs1573648098 TCGA novel CA348238877	743	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Ensembl
rs942512659 CA53591419	746	K>E		No	ClinGen TOPMed
CA348238945 rs1349284379	747	K>M		No	ClinGen TOPMed gnomAD
RCV001349222 CA1831780 rs776641757	750	S>G		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs761683045 CA1831781	750	S>R		No	ClinGen ExAC gnomAD
rs1398943681 CA348239012	751	G>S		No	ClinGen TOPMed gnomAD
rs750451461 CA1831783	752	D>N		No	ClinGen ExAC gnomAD
CA1831784 rs372801864	753	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs977105902 CA53591467	754	Y>C		No	ClinGen TOPMed
rs766586677 CA1831786	755	R>C		No	ClinGen ExAC TOPMed gnomAD
RCV001061530 rs751840057 CA1831787	755	R>H		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs200576584 CA1831788	758	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs748648347 CA1831790	759	I>V		No	ClinGen ExAC TOPMed gnomAD
CA348239207 rs1239497682	762	M>I		No	ClinGen TOPMed gnomAD
CA348239205 rs1214641522	762	M>K		No	ClinGen gnomAD
CA348239200 rs1217064526	762	M>V		No	ClinGen TOPMed
rs1473647261 CA348239223	764	V>I		No	ClinGen TOPMed gnomAD
CA348239249 rs1412843213	765	K>R		No	ClinGen gnomAD
rs1160401055 CA348239263	766	W>L		No	ClinGen gnomAD
CA348239318 rs778383770	768	A>G		No	ClinGen ExAC TOPMed gnomAD
CA1831794 rs771763478	769	I>T		No	ClinGen ExAC TOPMed gnomAD
CA348239365 rs1174441012	770	E>D		No	ClinGen TOPMed
CA1831795 rs775223365	770	E>G		No	ClinGen ExAC
CA348239371 rs1310636563	771	S>G		No	ClinGen gnomAD
rs746661031 CA1831796	772	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
rs1558810870 CA348239412	773	A>E		No	ClinGen Ensembl
rs776309058 CA1831798	774	D>H		No	ClinGen ExAC TOPMed
rs773270603 CA1831800	775	R>Q		No	ClinGen ExAC gnomAD
CA1831801 rs374847434	781	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs755995135 CA1831802	783	V>A		No	ClinGen ExAC gnomAD
CA1831816 RCV000512692 rs747894786	787	G>D		No	ClinGen ClinVar ExAC dbSNP
rs1179597950 CA348239850	787	G>S		No	ClinGen gnomAD
rs185118842 CA53592220	789	T>I		No	ClinGen 1000Genomes ExAC gnomAD
rs185118842 CA1831818	789	T>N		No	ClinGen 1000Genomes ExAC gnomAD
RCV000498459 rs138971326 CA53592226	790	M>V		No	ClinGen ClinVar ESP TOPMed dbSNP gnomAD
CA348239922 rs1210663313	791	W>*		No	ClinGen TOPMed
rs1013178978 CA53592227	793	I>V		No	ClinGen Ensembl
rs770960540 CA1831820	795	T>A		No	ClinGen ExAC gnomAD
rs1326116803 CA348240007	795	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs770960540 CA348239994	795	T>S		No	ClinGen ExAC gnomAD
CA53592237 rs767721402	796	R>L		No	ClinGen ExAC TOPMed gnomAD
rs767721402 CA1831823	796	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs539760413 CA1831822 RCV001321091	796	R>W	Variant assessed as Somatic; 0.0001848 impact. [NCI-TCGA]	No	ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs1558811187 CA348240021	797	G>E		No	ClinGen Ensembl
CA348240029 rs753021341	798	M>K		No	ClinGen ExAC TOPMed gnomAD
CA1831824 rs753021341	798	M>R		No	ClinGen ExAC TOPMed gnomAD
rs753021341 CA348240032	798	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1347741222 CA348240027	798	M>V		No	ClinGen Ensembl
rs1417916336 CA348240040	799	T>S		No	ClinGen gnomAD
CA348240059 rs1294863243	800	P>L		No	ClinGen TOPMed
CA1831825 rs760889132	802	P>H		No	ClinGen ExAC TOPMed gnomAD
CA53592247 rs760889132	802	P>L		No	ClinGen ExAC TOPMed gnomAD
CA348240083 rs1436850072	802	P>S		No	ClinGen TOPMed
rs764522519 CA1831826	804	V>I		No	ClinGen ExAC TOPMed gnomAD
CA1831827 rs80350193	805	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs779607936 CA1831829	807	H>R		No	ClinGen ExAC gnomAD
CA348240128 rs904711688	809	M>L		No	ClinGen TOPMed
CA53592258 rs904711688	809	M>V		No	ClinGen TOPMed
TCGA novel	810	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	811	D>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	812	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs141361084 CA1831831	812	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA348240153 rs1190689301	812	Y>H		No	ClinGen TOPMed
CA1831832 rs780696879	814	L>F		No	ClinGen ExAC TOPMed gnomAD
rs747852819 CA1831833	817	H>R		No	ClinGen ExAC gnomAD
CA348240184 rs1293952306	817	H>Y		No	ClinGen TOPMed
CA53592287 rs1031461468	818	R>G		No	ClinGen Ensembl
rs1193954549 CA348240211	821	Q>K		No	ClinGen gnomAD
rs55924349 CA1831836	823	E>K	Retinitis pigmentosa (rp) [Ensembl]	No	ClinGen ESP ExAC TOPMed gnomAD
rs770833866 CA1831837	827	D>G		No	ClinGen ExAC gnomAD
rs774337498 CA1831838	828	E>*		No	ClinGen ExAC gnomAD
rs766094337 CA1831910	831	E>K		No	ClinGen ExAC gnomAD
rs754991774 CA1831912	837	W>R		No	ClinGen ExAC gnomAD
rs1453194229 CA348242239	838	R>G		No	ClinGen TOPMed
CA348242277 rs752793588	840	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1831914 rs752793588	840	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs778044581 CA1831916	841	P>R		No	ClinGen ExAC gnomAD
rs370956458 CA1831919	843	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs771284736 CA1831918	843	D>Y		No	ClinGen ExAC
CA1831921 rs746671363	844	R>H		No	ClinGen ExAC gnomAD
CA348242364 rs746291728	844	R>S		No	ClinGen ExAC TOPMed gnomAD
rs148926887 CA1831922	845	P>S		No	ClinGen 1000Genomes ExAC gnomAD
rs375585784 CA1831923	849	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs769304424 CA1831925	851	R>G		No	ClinGen ExAC TOPMed gnomAD
CA348242484 rs1185753686	852	L>V		No	ClinGen gnomAD
CA348242528 rs1279786385	855	E>Q		No	ClinGen TOPMed
RCV001237444 rs1677514061	856	K>missing		No	ClinVar dbSNP
CA348242544 rs1558813509	856	K>E		No	ClinGen Ensembl
rs537239403 CA1831928	862	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1831927 rs143190615	862	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs546088670 CA1831932 RCV001057953	865	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA348242707 rs1180385640	866	N>H		No	ClinGen gnomAD
CA1831933 rs754043160	867	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA1831935 rs757398458	868	A>E		No	ClinGen ExAC
TCGA novel	868	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV001344151 rs751437121	869	D>missing		No	ClinVar dbSNP
rs779231326 CA1831936	869	D>G		No	ClinGen ExAC gnomAD
CA348242763 rs1357349105	870	V>A		No	ClinGen gnomAD
VAR_021049	871	I>V		No	UniProt
CA1831941 rs772623897	873	V>D		No	ClinGen ExAC gnomAD
rs747522500 CA1831939	873	V>I		No	ClinGen ExAC gnomAD
CA1831940 rs747522500	873	V>L		No	ClinGen ExAC gnomAD
RCV001053635 rs1240083827	874	N>missing		No	ClinVar dbSNP
CA53599031 rs769251782	875	T>I		No	ClinGen gnomAD
CA348242864 rs1280613658	879	E>G		No	ClinGen TOPMed
CA1831942 rs748883082	879	E>K		No	ClinGen ExAC gnomAD
CA1831944 rs147916288	880	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	881	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA53599054 RCV001222596 rs887297637	883	G>D		No	ClinGen ClinVar TOPMed dbSNP
TCGA novel	885	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA53599060 rs1131246	888	S>P		No	ClinGen Ensembl
rs759393115 CA1831945	890	L>P		No	ClinGen ExAC gnomAD
CA1831946 rs147051895	893	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA348243201 rs1399701091	894	D>Y		No	ClinGen gnomAD
CA348243254 rs1292324604	896	N>K		No	ClinGen TOPMed
rs775526399 CA1831947	897	I>V		No	ClinGen ExAC gnomAD
rs1336618436 CA348243301	898	D>E		No	ClinGen TOPMed gnomAD
CA1831948 rs760710190	898	D>N		No	ClinGen ExAC gnomAD
CA1831949 rs764140302	899	P>A		No	ClinGen ExAC TOPMed gnomAD
CA348243349 rs1383441850	900	D>E		No	ClinGen TOPMed
CA348243359 rs1558813633	901	S>A		No	ClinGen Ensembl
rs757419828 CA1831951	902	I>R		No	ClinGen ExAC gnomAD
rs753830329 CA1831950	902	I>V		No	ClinGen ExAC gnomAD
CA53599082 rs957812890	905	S>F		No	ClinGen gnomAD
rs765360858 CA1831953	906	C>R		No	ClinGen ExAC gnomAD
TCGA novel	906	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV001226985 rs202205484 CA1831954	907	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001317789 rs758693335 CA1831955	909	R>C		No	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001244135 rs149131360 CA1831956	909	R>H		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA348243624 rs755422343	910	A>S		No	ClinGen ExAC gnomAD
rs755422343 CA1831958	910	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	910	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1831959 rs781744444	911	A>P		No	ClinGen ExAC gnomAD
rs748743393 RCV001314992 CA1831960	913	S>N		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs770534288 CA1831961	913	S>R		No	ClinGen ExAC TOPMed gnomAD
CA1831962 rs778652308	914	V>A		No	ClinGen ExAC gnomAD
rs1176111087 CA348243739	916	T>A		No	ClinGen gnomAD
CA1831963 rs745544181	918	E>*		No	ClinGen ExAC gnomAD
RCV001339301 CA1831965 rs189194232	920	H>D		No	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
CA1831966 rs771194337	920	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1276797688 CA348243894	921	D>E		No	ClinGen TOPMed gnomAD
rs768469451 CA1831967 RCV001344420	921	D>Y		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
TCGA novel	924	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1831969 rs761738159	924	P>L		No	ClinGen ExAC TOPMed gnomAD
CA1831970 rs370413166	926	E>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA53599153 rs944486770	926	E>K		No	ClinGen Ensembl
rs762299005 CA1831972	928	R>L		No	ClinGen ExAC TOPMed gnomAD
CA1831973 RCV001317539 rs762299005	928	R>Q		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA1831971 rs750606891	928	R>W		No	ClinGen ExAC TOPMed gnomAD
CA1831975 rs375163842	930	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs375163842 CA348244066	930	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1315795764 CA348244167	935	S>G		No	ClinGen gnomAD
CA1831977 rs372199408	935	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA1831978 rs141647333	937	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1573654137 CA348244325	940	D>N		No	ClinGen Ensembl
rs564311424 CA1831980	942	T>I		No	ClinGen 1000Genomes ExAC gnomAD
rs756657513 CA1831979	942	T>S		No	ClinGen ExAC gnomAD
CA348244391 rs1168984359	943	S>F		No	ClinGen gnomAD
CA348244387 rs1168984359	943	S>Y		No	ClinGen gnomAD
rs572549911 CA1831981 RCV001056681	944	A>T		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA1831984 rs779918962	945	P>L		No	ClinGen ExAC TOPMed gnomAD
rs779918962 CA1831983	945	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1303380592 CA348244412	945	P>S		No	ClinGen Ensembl
rs769715767 CA1831988	948	A>P		No	ClinGen ExAC gnomAD
CA1831989 rs773256203	948	A>V		No	ClinGen ExAC gnomAD
RCV000898222 CA148487 RCV000081388 rs148261231	951	A>T		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1270669084 CA348244542	951	A>V		No	ClinGen gnomAD
rs751837884 CA1831991	952	E>Q		No	ClinGen ExAC gnomAD
rs1221274911 CA348244605	954	N>K		No	ClinGen gnomAD
RCV000762279 CA1831993 VAR_067195 rs201460398	958	P>L	Variant assessed as Somatic; 0.0 impact. found in a patient with Leber congenital amaurosis [NCI-TCGA, UniProt]	No	ClinGen ClinVar UniProt 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA348244713 rs1213521173	960	E>K		No	ClinGen TOPMed
TCGA novel	960	E>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	961	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1487228240 CA348244762	962	L>F		No	ClinGen Ensembl
rs928342877 CA53599328	968	S>F		No	ClinGen TOPMed gnomAD
TCGA novel	969	W>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348244936 rs1370719942	970	S>F		No	ClinGen TOPMed
CA1831996 rs764736804	972	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1831997 rs758036268	974	M>L		No	ClinGen ExAC gnomAD
CA348245079 rs1383025218	975	L>P		No	ClinGen gnomAD
CA348245101 rs1318674293	976	P>H		No	ClinGen gnomAD
rs1467489036 RCV001318305	977	L>missing		No	ClinVar dbSNP
rs377207025 CA1831999	979	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1359521549 CA348245213	980	S>L		No	ClinGen gnomAD
rs1170420949 CA348245279	983	D>G		No	ClinGen TOPMed
CA1832001 rs781065147	983	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA348245297 rs1573654297	984	E>V		No	ClinGen Ensembl
rs1558813830 CA348245316	985	L>V		No	ClinGen Ensembl
rs1205367707 CA348245356	986	L>S		No	ClinGen gnomAD
CA1832004 rs747945914	987	F>L		No	ClinGen ExAC gnomAD
rs200644454 RCV001877208 CA1832006	990	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs200644454 RCV000081389 CA222927	990	D>Y		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
TCGA novel	991	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	992	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	992	S>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771013485 CA1832007	998	L>P		No	ClinGen ExAC gnomAD

1 associated diseases with Q12866

[MIM: 613862]: Retinitis pigmentosa 38 (RP38)

A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269|PubMed:11062461}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269|PubMed:11062461}. Note=The disease is caused by variants affecting the gene represented in this entry.

12 regional properties for Q12866

Type	Name	Position	InterPro Accession
domain	Protein kinase domain	587 - 858	IPR000719
domain	Serine-threonine/tyrosine-protein kinase, catalytic domain	588 - 853	IPR001245
domain	Immunoglobulin subtype	100 - 194	IPR003599-1
domain	Immunoglobulin subtype	203 - 281	IPR003599-2
domain	Fibronectin type III	284 - 381	IPR003961-1
domain	Fibronectin type III	384 - 484	IPR003961-2
domain	Immunoglobulin-like domain	81 - 186	IPR007110-1
domain	Immunoglobulin-like domain	197 - 273	IPR007110-2
active_site	Tyrosine-protein kinase, active site	719 - 731	IPR008266
domain	Immunoglobulin	106 - 182	IPR013151
binding_site	Protein kinase, ATP binding site	593 - 619	IPR017441
domain	Tyrosine-protein kinase, catalytic domain	587 - 854	IPR020635

Functions

		Description
EC Number	2.7.10.1	Protein-tyrosine kinases
Subcellular Localization	Cell membrane ; Single-pass type I membrane protein
PANTHER Family	PTHR24416	TYROSINE-PROTEIN KINASE RECEPTOR
PANTHER Subfamily	PTHR24416:SF257	TYROSINE-PROTEIN KINASE MER
PANTHER Protein Class	transmembrane signal receptor
PANTHER Pathway Category	No pathway information available

6 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
extracellular space	That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid.
integral component of plasma membrane	The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
photoreceptor outer segment	The outer segment of a vertebrate photoreceptor that contains a stack of membrane discs embedded with photoreceptor proteins.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
receptor complex	Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function.

2 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
transmembrane receptor protein tyrosine kinase activity	Combining with a signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity by catalysis of the reaction: ATP + a protein-L-tyrosine = ADP + a protein-L-tyrosine phosphate.

22 GO annotations of biological process

Name	Definition
cell migration	The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. Cell migration is a central process in the development and maintenance of multicellular organisms.
cell surface receptor signaling pathway	The series of molecular signals initiated by activation of a receptor on the surface of a cell. The pathway begins with binding of an extracellular ligand to a cell surface receptor, or for receptors that signal in the absence of a ligand, by ligand-withdrawal or the activity of a constitutively active receptor. The pathway ends with regulation of a downstream cellular process, e.g. transcription.
cell-cell signaling	Any process that mediates the transfer of information from one cell to another. This process includes signal transduction in the receiving cell and, where applicable, release of a ligand and any processes that actively facilitate its transport and presentation to the receiving cell. Examples include signaling via soluble ligands, via cell adhesion molecules and via gap junctions.
establishment of localization in cell	Any process, occuring in a cell, that localizes a substance or cellular component. This may occur via movement, tethering or selective degradation.
natural killer cell differentiation	The process in which a relatively unspecialized cell acquires the specialized features of a natural killer cell.
negative regulation of cytokine production	Any process that stops, prevents, or reduces the rate of production of a cytokine.
negative regulation of leukocyte apoptotic process	Any process that stops, prevents, or reduces the frequency, rate or extent of leukocyte apoptotic process.
negative regulation of lymphocyte activation	Any process that stops, prevents, or reduces the frequency, rate or extent of lymphocyte activation.
nervous system development	The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state.
neutrophil clearance	The selective elimination of senescent neutrophils from the body by autoregulatory mechanisms.
phagocytosis	A vesicle-mediated transport process that results in the engulfment of external particulate material by phagocytes and their delivery to the lysosome. The particles are initially contained within phagocytic vacuoles (phagosomes), which then fuse with primary lysosomes to effect digestion of the particles.
platelet activation	A series of progressive, overlapping events triggered by exposure of the platelets to subendothelial tissue. These events include shape change, adhesiveness, aggregation, and release reactions. When carried through to completion, these events lead to the formation of a stable hemostatic plug.
positive regulation of kinase activity	Any process that activates or increases the frequency, rate or extent of kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule.
positive regulation of phagocytosis	Any process that activates or increases the frequency, rate or extent of phagocytosis.
protein kinase B signaling	A series of reactions, mediated by the intracellular serine/threonine kinase protein kinase B (also called AKT), which occurs as a result of a single trigger reaction or compound.
protein phosphorylation	The process of introducing a phosphate group on to a protein.
retina development in camera-type eye	The process whose specific outcome is the progression of the retina over time, from its formation to the mature structure. The retina is the innermost layer or coating at the back of the eyeball, which is sensitive to light and in which the optic nerve terminates.
secretion by cell	The controlled release of a substance by a cell.
spermatogenesis	The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa.
substrate adhesion-dependent cell spreading	The morphogenetic process that results in flattening of a cell as a consequence of its adhesion to a substrate.
transmembrane receptor protein tyrosine kinase signaling pathway	The series of molecular signals initiated by an extracellular ligand binding to a receptor on the surface of the target cell where the receptor possesses tyrosine kinase activity, and ending with the regulation of a downstream cellular process, e.g. transcription.
vagina development	The reproductive developmental process whose specific outcome is the progression of the vagina over time, from its formation to the mature structure.

49 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q06418	TYRO3	Tyrosine-protein kinase receptor TYRO3	Homo sapiens (Human)	SS
P08069	IGF1R	Insulin-like growth factor 1 receptor	Homo sapiens (Human)	EV
P14616	INSRR	Insulin receptor-related protein	Homo sapiens (Human)	SS
P08922	ROS1	Proto-oncogene tyrosine-protein kinase ROS	Homo sapiens (Human)	SS
Q01974	ROR2	Tyrosine-protein kinase transmembrane receptor ROR2	Homo sapiens (Human)	EV
Q9UM73	ALK	ALK tyrosine kinase receptor	Homo sapiens (Human)	EV
P07949	RET	Proto-oncogene tyrosine-protein kinase receptor Ret	Homo sapiens (Human)	EV
O15146	MUSK	Muscle, skeletal receptor tyrosine-protein kinase	Homo sapiens (Human)	EV
Q01973	ROR1	Inactive tyrosine-protein kinase transmembrane receptor ROR1	Homo sapiens (Human)	PR
Q16832	DDR2	Discoidin domain-containing receptor 2	Homo sapiens (Human)	SS
Q08345	DDR1	Epithelial discoidin domain-containing receptor 1	Homo sapiens (Human)	EV
Q16620	NTRK2	BDNF/NT-3 growth factors receptor	Homo sapiens (Human)	EV
P04629	NTRK1	High affinity nerve growth factor receptor	Homo sapiens (Human)	EV
Q16288	NTRK3	NT-3 growth factor receptor	Homo sapiens (Human)	SS
P35916	FLT4	Vascular endothelial growth factor receptor 3	Homo sapiens (Human)	SS
P17948	FLT1	Vascular endothelial growth factor receptor 1	Homo sapiens (Human)	SS
P35968	KDR	Vascular endothelial growth factor receptor 2	Homo sapiens (Human)	EV
P29317	EPHA2	Ephrin type-A receptor 2	Homo sapiens (Human)	SS
P21709	EPHA1	Ephrin type-A receptor 1	Homo sapiens (Human)	SS
P54760	EPHB4	Ephrin type-B receptor 4	Homo sapiens (Human)	SS
P29376	LTK	Leukocyte tyrosine kinase receptor	Homo sapiens (Human)	SS
P06213	INSR	Insulin receptor	Homo sapiens (Human)	EV
P11362	FGFR1	Fibroblast growth factor receptor 1	Homo sapiens (Human)	EV
P21802	FGFR2	Fibroblast growth factor receptor 2	Homo sapiens (Human)	EV
P22455	FGFR4	Fibroblast growth factor receptor 4	Homo sapiens (Human)	SS
P22607	FGFR3	Fibroblast growth factor receptor 3	Homo sapiens (Human)	EV
Q04912	MST1R	Macrophage-stimulating protein receptor	Homo sapiens (Human)	EV
P30530	AXL	Tyrosine-protein kinase receptor UFO	Homo sapiens (Human)	PR
P08581	MET	Hepatocyte growth factor receptor	Homo sapiens (Human)	EV
P04626	ERBB2	Receptor tyrosine-protein kinase erbB-2	Homo sapiens (Human)	SS
Q15303	ERBB4	Receptor tyrosine-protein kinase erbB-4	Homo sapiens (Human)	SS
P21860	ERBB3	Receptor tyrosine-protein kinase erbB-3	Homo sapiens (Human)	SS
P00533	EGFR	Epidermal growth factor receptor	Homo sapiens (Human)	EV
P34925	RYK	Tyrosine-protein kinase RYK	Homo sapiens (Human)	PR
Q02763	TEK	Angiopoietin-1 receptor	Homo sapiens (Human)	SS
P35590	TIE1	Tyrosine-protein kinase receptor Tie-1	Homo sapiens (Human)	PR
P10721	KIT	Mast/stem cell growth factor receptor Kit	Homo sapiens (Human)	EV
P09619	PDGFRB	Platelet-derived growth factor receptor beta	Homo sapiens (Human)	EV
P07333	CSF1R	Macrophage colony-stimulating factor 1 receptor	Homo sapiens (Human)	SS
P16234	PDGFRA	Platelet-derived growth factor receptor alpha	Homo sapiens (Human)	EV
P36888	FLT3	Receptor-type tyrosine-protein kinase FLT3	Homo sapiens (Human)	EV
P55144	Tyro3	Tyrosine-protein kinase receptor TYRO3	Mus musculus (Mouse)	SS
Q00993	Axl	Tyrosine-protein kinase receptor UFO	Mus musculus (Mouse)	PR
Q62190	Mst1r	Macrophage-stimulating protein receptor	Mus musculus (Mouse)	SS
Q60805	Mertk	Tyrosine-protein kinase Mer	Mus musculus (Mouse)	SS
Q01887	Ryk	Tyrosine-protein kinase RYK	Mus musculus (Mouse)	PR
Q2QLE0	MET	Hepatocyte growth factor receptor	Sus scrofa (Pig)	PR
P57097	Mertk	Tyrosine-protein kinase Mer	Rattus norvegicus (Rat)	SS
H2KZU7	svh-2	Tyrosine-protein kinase receptor svh-2	Caenorhabditis elegans	SS

10	20	30	40	50	60
MGPAPLPLLL	GLFLPALWRR	AITEAREEAK	PYPLFPGPFP	GSLQTDHTPL	LSLPHASGYQ
70	80	90	100	110	120
PALMFSPTQP	GRPHTGNVAI	PQVTSVESKP	LPPLAFKHTV	GHIILSEHKG	VKFNCSISVP
130	140	150	160	170	180
NIYQDTTISW	WKDGKELLGA	HHAITQFYPD	DEVTAIIASF	SITSVQRSDN	GSYICKMKIN
190	200	210	220	230	240
NEEIVSDPIY	IEVQGLPHFT	KQPESMNVTR	NTAFNLTCQA	VGPPEPVNIF	WVQNSSRVNE
250	260	270	280	290	300
QPEKSPSVLT	VPGLTEMAVF	SCEAHNDKGL	TVSKGVQINI	KAIPSPPTEV	SIRNSTAHSI
310	320	330	340	350	360
LISWVPGFDG	YSPFRNCSIQ	VKEADPLSNG	SVMIFNTSAL	PHLYQIKQLQ	ALANYSIGVS
370	380	390	400	410	420
CMNEIGWSAV	SPWILASTTE	GAPSVAPLNV	TVFLNESSDN	VDIRWMKPPT	KQQDGELVGY
430	440	450	460	470	480
RISHVWQSAG	ISKELLEEVG	QNGSRARISV	QVHNATCTVR	IAAVTRGGVG	PFSDPVKIFI
490	500	510	520	530	540
PAHGWVDYAP	SSTPAPGNAD	PVLIIFGCFC	GFILIGLILY	ISLAIRKRVQ	ETKFGNAFTE
550	560	570	580	590	600
EDSELVVNYI	AKKSFCRRAI	ELTLHSLGVS	EELQNKLEDV	VIDRNLLILG	KILGEGEFGS
610	620	630	640	650	660
VMEGNLKQED	GTSLKVAVKT	MKLDNSSQRE	IEEFLSEAAC	MKDFSHPNVI	RLLGVCIEMS
670	680	690	700	710	720
SQGIPKPMVI	LPFMKYGDLH	TYLLYSRLET	GPKHIPLQTL	LKFMVDIALG	MEYLSNRNFL
730	740	750	760	770	780
HRDLAARNCM	LRDDMTVCVA	DFGLSKKIYS	GDYYRQGRIA	KMPVKWIAIE	SLADRVYTSK
790	800	810	820	830	840
SDVWAFGVTM	WEIATRGMTP	YPGVQNHEMY	DYLLHGHRLK	QPEDCLDELY	EIMYSCWRTD
850	860	870	880	890	900
PLDRPTFSVL	RLQLEKLLES	LPDVRNQADV	IYVNTQLLES	SEGLAQGSTL	APLDLNIDPD
910	920	930	940	950	960
SIIASCTPRA	AISVVTAEVH	DSKPHEGRYI	LNGGSEEWED	LTSAPSAAVT	AEKNSVLPGE
970	980	990
RLVRNGVSWS	HSSMLPLGSS	LPDELLFADD	SSEGSEVLM