AiPD: Autoinhibited Protein Database

P47897

Gene name	QARS1
Protein name	Glutamine--tRNA ligase
Names	Glutaminyl-tRNA synthetase, GlnRS
Species	Homo sapiens (Human)
KEGG Pathway	hsa:5859
EC number	6.1.1.18: Ligases forming aminoacyl-tRNA and related compounds
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

1-49 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-49 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

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

Autoinhibited structure

Activated structure

5 structures for P47897

Entry ID	Method	Resolution	Chain	Position	Source
4R3Z	X-ray	403 A	C	1-775	PDB
4YE6	X-ray	240 A	A	1-775	PDB
4YE8	X-ray	330 A	A	1-775	PDB
4YE9	X-ray	270 A	A	1-775	PDB
AF-P47897-F1	Predicted				AlphaFoldDB

730 variants for P47897

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs2042518770 RCV001231975	1	M>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001212291 RCV002561783 rs1375795727 CA352724501	2	A>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs748155291 CA2392346 RCV001056274	3	A>V	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA74482270 RCV001227929 rs773096335	8	S>L	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA2392339 RCV001522612 RCV000456406 rs62621067	9	L>I	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001341517 rs1461865905 CA352724193	11	T>S	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001324658 CA352724172 rs1333683203	12	S>N	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV002531887 RCV000624033 rs1553752741 CA352724141	14	G>S	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001372292 RCV000522052 rs1170759657	19	K>missing	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001547476 CA2392328 RCV000526038 rs148998142	28	A>D	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001223367 CA352723757 rs1221014964 CA352723745 RCV001226875	30	S>R	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001061754 CA2392327 rs371969519	31	A>V	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC dbSNP gnomAD
RCV001064941 rs1261477095 CA352723655	34	R>P	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1575404644 RCV001202373	36	A>G	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001221097 RCV002254957 CA352723633 rs1575404644 COSM1193513	36	A>V	lung Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV001855344 CA2392290 RCV000655198 rs546520104	42	Q>P	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs550717519 RCV002254956 RCV001217171 CA352723232 COSM1193514	43	T>S	lung Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000698883 CA352723183 rs1559970954	44	L>P	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs587777331 VAR_071189 RCV000114972 RCV000494584 CA214473	45	G>V	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome MSCCA; results in reduced glutaminyl-tRNA aminoacylation activity; does not affect interaction with RARS1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
RCV001327504 CA352723131 rs1342775742	47	T>I	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV002536404 rs201397059 RCV001585658 CA2392286 RCV000705908	48	I>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_071190 rs587777333 CA214475 RCV000114974	57	Y>H	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome MSCCA; results in reduced glutaminyl-tRNA aminoacylation activity; does not affect interaction with RARS1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC dbSNP gnomAD
RCV001070309 CA352722679 rs1223986953	69	L>F	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001225022 rs748894610 CA2392274	70	S>F	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA352722638 RCV001224111 rs1362208293	72	L>F	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs2042510780 RCV001212974	75	Y>C	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinVar dbSNP
rs752251563 RCV001401405 CA2392271	77	A>T	Variant assessed as Somatic; 0.0 impact. Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001039144 rs767410688	78	S>G	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinVar dbSNP
rs2042510350 RCV001067955	83	T>I	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinVar dbSNP
rs2042510074 RCV001239582	86	Q>missing	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinVar dbSNP
rs1483058377 RCV001299523 CA352722295	88	S>R	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001342492 CA352721141 rs1205366710	93	Y>H	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000536631 CA2392222 RCV000489200 rs147794116	99	L>F	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV002227163 RCV000498066 rs141983717 CA2392217 RCV000461879	106	D>N	Global developmental delay Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001814309 CA352720647 CA74480945 COSM3824130 RCV001349447 rs201359259	107	F>L	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome breast [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
RCV001055282 CA2392213 rs767616063 RCV001508145	113	V>M	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001501292 RCV003168904 rs530494890 RCV000459703 CA2392182	132	R>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs142831772 RCV002462290 RCV001052794 CA2392179	134	R>W	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001056062 CA74480464 rs896454620	140	E>Q	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001230976 rs2042500119	142	Y>*	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001557667 RCV001247979 rs201032950 CA2392148	154	R>Q	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs766000850 CA2392149 RCV001232355 COSM267295	154	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [NCI-TCGA, Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs776344968 CA2392144 RCV001265598	159	W>*	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA352718660 rs1398173228 RCV000520099 RCV001339210	163	K>E	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1158546093 RCV001326778 CA352718359	171	M>I	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV000521657 CA352716787 rs1346246672 RCV002528290	186	E>G	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001315616 RCV000523568 RCV002528285 rs192040640 CA2392090	201	R>Q	Variant assessed as Somatic; 0.0 impact. Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome Inborn genetic diseases [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001584158 rs200703354 CA2392091 RCV000462966	201	R>W	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs371204910 RCV001232806 CA74476904	203	T>M	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA2392088 RCV002544812 RCV000688380 rs148374607	204	A>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001038206 rs2042480502	208	V>A	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinVar dbSNP
rs1349950171 CA352715485 RCV001040122	222	E>A	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000701185 rs750460731 CA2392063	223	Q>R	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001521368 rs142517070 CA2392062 RCV000537546	225	R>W	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs769241806 CA2392059 RCV001295474	226	G>R	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001222775 rs2042475313	233	K>N	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinVar dbSNP
rs1248234116 RCV001243154 CA352715041 RCV001546574	233	K>Q	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1553752233 CA352714776 RCV002534305 RCV000658960	241	P>L	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1037854666 CA74476328 RCV000707670 RCV001868316	257	L>M	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001855343 rs779251239 CA2392027 RCV001281465	261	G>R	Intellectual disability [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA74475994 RCV001298965 rs916890735	265	R>H	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs1559968699 CA352714333 RCV001060691	265	R>S	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs777675321 RCV001044950 CA2392003	267	R>Q	Variant assessed as Somatic; 0.0 impact. Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001207975 CA2391998 rs200736711	273	N>S	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs2042468624 RCV001344074	276	L>P	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinVar dbSNP
rs2042468435 RCV001245752	279	G>R	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinVar dbSNP
rs1370265763 RCV001797125 RCV000686178 CA352712508	301	R>C	Variant assessed as Somatic; 0.0 impact. Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD
rs746386543 RCV001304464	313	K>Q	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinVar dbSNP
CA2391938 rs151217558 RCV001239357	316	T>M	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs746002985 CA2391921 RCV001348394	326	G>D	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs778484822 RCV001044647	335	A>G	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinVar dbSNP
CA2391916 rs778484822 RCV001042547	335	A>V	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001070505 rs1186557939	337	D>missing	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001233262 rs2042453818	346	A>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinVar dbSNP
CA2391908 RCV001545512 RCV001240864 rs763901654	351	R>C	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001027994 CA352710825 rs752600100	353	G>V	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001063435 CA352710816 rs1370961350 RCV001569572	354	L>V	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs751537797 CA2391884 RCV001211409	361	R>*	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs2042451493 RCV001296124	366	K>R	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001299085 RCV003156113 rs185476065 RCV000735295 CA2391879 RCV001592938	378	R>C	Insomnia Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs185476065 CA352710252 RCV001254913	378	R>G	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001347640 rs2042451058	380	M>R	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001069190 rs2042450960	382	E>missing	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinVar dbSNP
rs899079673 RCV000466870 RCV000487819 CA16611312	387	F>C	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs201842141 RCV001238137 CA74474565	388	E>D	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA2391874 RCV000687971 rs777424712	388	E>G	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA352709574 rs1559967769 RCV000694739 RCV001571716	390	M>I	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000655191 RCV001592835 COSM1309251 CA2391845 rs143072084	399	E>K	urinary_tract Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
COSM78384 CA2391842 RCV001064740 rs370681625	403	R>Q	ovary Variant assessed as Somatic; 0.0 impact. large_intestine Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [Cosmic, NCI-TCGA, ClinVar]	Yes	ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV000114973 VAR_071191 COSM1423874 rs587777332 CA214474	403	R>W	large_intestine Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome MSCCA; results in loss of glutaminyl-tRNA aminoacylation activity; impairs protein folding; does not interact with RARS1; results in reduced protein solubility [Cosmic, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt ExAC TOPMed dbSNP gnomAD
rs147076980 RCV000520706 RCV000655203 CA2391839	416	V>I	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs772662033 CA2391838 RCV001305714	418	Y>C	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000477590 rs746791896 CA2391833	423	T>A	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs746114521 RCV001338009 CA2391828	427	R>C	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001054718 rs148004466 CA2391827 RCV001540903	427	R>H	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP
RCV001070504 rs2042446400	429	G>E	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinVar dbSNP
rs775652214 RCV001855342 RCV002534224	430	D>missing	Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
rs1559967530 RCV000691612 CA352708207	434	I>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001045976 rs143462532 CA2391792 RCV001732024	435	Y>C	Variant assessed as Somatic; 0.0 impact. Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001036990 rs1456791515	436	P>L	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinVar dbSNP
rs2042443898 RCV001213382	437	T>S	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinVar dbSNP
rs2042443370 RCV001068321	448	I>V	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinVar dbSNP
rs374178767 RCV000655184 CA74473619	463	R>Q	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar ESP TOPMed dbSNP gnomAD
COSM1309250 rs141072684 RCV001346873 CA2391757	464	R>C	Variant assessed as Somatic; 0.0 impact. urinary_tract Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [NCI-TCGA, Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA352706881 rs1575400316 RCV000851207	471	C>Y	Attention deficit hyperactivity disorder [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs2042439830 RCV001347419	473	A>P	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinVar dbSNP
CA2391750 rs144092780 RCV000464919 RCV001521138	476	V>I	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1172486173 RCV000735296 CA352706571 RCV002535425 RCV003156114	477	Y>C	Insomnia Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000478623 rs1064795119 RCV002525873	484	Y>missing	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinVar dbSNP
rs878854751 RCV000229402 CA10582197	485	G>R	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001319604 CA352706234 rs1250051938	486	R>H	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs2042438753 RCV001345405	496	K>E	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001216242 rs2042438556	502	L>R	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001319550 rs1287967203 CA352705747	503	V>I	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs553194272 RCV000865891 CA2391738 RCV001510749	509	R>W	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs2042436829 RCV001045855	510	D>N	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000114975 CA214476 VAR_071192 RCV000437593 rs587777334	515	R>W	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome MSCCA; results in loss of glutaminyl-tRNA aminoacylation activity; impairs protein folding; results in reduced protein solubility [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP gnomAD
rs764216449 RCV000438114 CA2391708 RCV001238962	520	T>M	Variant assessed as Somatic; 0.0 impact. Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001045315 CA2391707 rs756375405	521	A>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs767667312 CA2391705 RCV000685922 RCV001861901	523	R>*	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000657936 RCV001242568 CA2391704 rs201013732	523	R>Q	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1553751726 RCV000623160 CA352704941 RCV001303875	525	R>W	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000686869 CA352704878 rs1559967000	528	P>S	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs373719958 CA2391700 RCV001545016 RCV002544874 RCV000690365	529	P>S	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA2391696 RCV001664758 rs771579029 RCV001215072	536	C>S	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs778807845 RCV001252759 CA2391694 RCV002549245 RCV001563017 RCV001208751	538	R>Q	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome Microcephaly Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001371134 CA2391695 rs201176263 RCV000712883	538	R>W	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001038208 CA74472911 rs918156086	544	A>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1559966841 RCV000712885 CA352704043 RCV000692882	553	L>Q	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs150328993 RCV001298524 CA2391677	558	R>S	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA352703765 RCV001229589 rs1559966804	561	L>V	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001066418 rs141184565 CA2391673	567	R>*	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
TCGA novel rs1468382416 RCV001224133	567	R>Q	Variant assessed as Somatic; impact. Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [NCI-TCGA, ClinVar]	Yes	ClinVar NCI-TCGA dbSNP
RCV001550562 CA2391670 RCV000518657 RCV000697150 rs755259427	571	V>A	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs983282837 CA74472843 RCV001047721	576	R>Q	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA2391668 COSM368143 rs780301490 RCV001312517	576	R>W	lung Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
rs758929887 CA2391667 RCV001054182	578	I>V	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs750907390 RCV000701814 CA2391666	580	T>A	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV002562387 CA2391665 RCV001212925 rs777671697	581	N>D	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000484581 CA2391640 rs144563810 RCV001467022	587	S>F	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA2391639 RCV000412870 RCV002523942 rs751191501	592	V>L	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001220830 CA2391631 rs145548376	608	F>V	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs757743183 RCV000998075 RCV000554317 CA2391626 RCV002527954	611	I>S	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001308034 CA2391624 rs778303235	614	I>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs758004160 RCV001341027	619	F>L	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000868287 RCV001522147 CA2391602 rs544950843	624	E>Q	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
CA74472521 RCV001241122 COSM1485309 rs979330776	629	R>C	Variant assessed as Somatic; impact. Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome breast [NCI-TCGA, ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP
RCV001040121 CA352700020 rs1396216642	643	Y>C	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs770657741 RCV001346642	653	G>V	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV002534225 rs748978904 RCV000655188 CA2391559	658	V>L	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs2042421299 RCV001215309	660	S>C	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001065856 CA2391557 rs755672487	660	S>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1037325022 CA74472415 RCV001062626	667	R>Q	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs370587517 CA2391554 RCV000555248	667	R>W	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA2391543 RCV001047364 RCV001759771 rs557972227	692	Y>C	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001228856 rs2042417727	698	H>P	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinVar dbSNP
CA2391516 RCV001321053 rs527504481	704	P>A	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000531286 RCV002527955 CA2391512 RCV001406324 rs142327602	708	P>L	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs760143907 RCV001343634 CA2391506	717	L>V	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001071304 rs2042415174	718	A>P	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinVar dbSNP
rs1332410993 CA352697706 RCV001063267	718	A>V	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000687001 rs781454677 CA2391487	722	V>M	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001053388 rs2042414914	724	D>H	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001216299 rs2042414825	725	A>P	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinVar dbSNP
CA74472203 RCV000655192 rs913919560	725	A>V	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001038101 rs772699618 CA2391477	737	P>H	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs772699618 CA2391476 RCV000468826	737	P>L	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001325886 rs527864842 CA74472181	737	P>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001759824 CA2391474 RCV001062871 rs749055007 COSM276971	739	D>N	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [NCI-TCGA, Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA74472173 RCV000655193 rs925254000	740	K>Q	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001070071 CA2391469 rs781617872	751	V>M	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000655201 rs142480574 RCV001584513 CA2391464	754	D>G	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001299499 CA2391447 rs746327492	764	R>*	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA2391442 rs754648501 RCV000694182	771	D>N	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV002272418 rs762570876 RCV001221774 CA2391439	773	G>R	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs988664245 CA74482299	2	A>E		No	ClinGen TOPMed
CA74482284 RCV001861918 rs368809933	4	L>P		No	ClinGen ClinVar TOPMed dbSNP
CA352724429 rs768505058	4	L>V		No	ClinGen ExAC TOPMed gnomAD
rs747163409 CA2392343	6	S>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA2392340 rs745939182	7	L>P		No	ClinGen ExAC gnomAD
rs773096335 CA352724271	8	S>*		No	ClinGen TOPMed gnomAD
CA352724188 rs1461865905	11	T>I		No	ClinGen TOPMed gnomAD
CA352724161 rs1396828595	12	S>R		No	ClinGen gnomAD
rs1333683203 CA352724165	12	S>T		No	ClinGen TOPMed gnomAD
rs969067096 CA74482245	13	L>F		No	ClinGen TOPMed
CA74482220 rs546130184	17	E>*		No	ClinGen 1000Genomes
CA352723972 rs1422878993	19	K>N		No	ClinGen gnomAD
CA352723953 rs1399543425	20	A>V		No	ClinGen TOPMed
CA352723931 rs1299713566	21	R>C		No	ClinGen TOPMed
CA74482194 rs112587654	23	T>A		No	ClinGen Ensembl
CA2392333 rs753051563	23	T>R		No	ClinGen ExAC gnomAD
rs762761920 CA2392331	24	L>F		No	ClinGen ExAC gnomAD
rs760691722 CA2392330	25	K>E		No	ClinGen ExAC gnomAD
CA352723844 rs1245336039	25	K>R		No	ClinGen gnomAD
CA2392329 rs764855037	27	S>A		No	ClinGen ExAC gnomAD
CA352723786 rs148998142	28	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA352723792 rs1457710626	28	A>P		No	ClinGen gnomAD
CA2392325 rs201606430	32	Q>H		No	ClinGen 1000Genomes ExAC gnomAD
CA2392323 rs199617865	33	L>M		No	ClinGen 1000Genomes ExAC gnomAD
CA352723657 rs1316852653	34	R>C		No	ClinGen gnomAD
CA352723656 rs1261477095	34	R>H		No	ClinGen TOPMed gnomAD
rs778895870 CA2392321	35	E>D		No	ClinGen ExAC gnomAD
rs746101416 CA2392322	35	E>Q		No	ClinGen ExAC gnomAD
CA352723643 rs1331876498	36	A>T		No	ClinGen gnomAD
rs1347407640 CA352723613	38	T>N		No	ClinGen TOPMed
TCGA novel	39	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2392320 rs771028235	39	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA352723260 rs1242675709	42	Q>H		No	ClinGen gnomAD
CA74481745 rs546520104	42	Q>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs546520104 CA2392291	42	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs550717519 CA2392289	43	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2392287 rs752660207 RCV001865697	44	L>M		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1466258007 CA352723159	46	S>P		No	ClinGen TOPMed gnomAD
rs1559970922 CA352723083	50	K>R		No	ClinGen Ensembl
CA2392285 rs755697141	51	A>T		No	ClinGen ExAC gnomAD
CA2392284 rs371410194	52	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs763144605 CA2392283	53	G>R		No	ClinGen ExAC gnomAD
rs1161729877 CA352722951	57	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA74481649 rs199520568	58	G>V		No	ClinGen gnomAD
CA352722871 rs748629167	59	L>F		No	ClinGen ExAC gnomAD
RCV001865415 CA16611405 rs1060502307	62	R>Q		No	ClinGen ClinVar Ensembl dbSNP
CA2392278 rs540260992	63	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA352722793 rs1244117414	64	R>G		No	ClinGen gnomAD
rs1429201175 CA352722784	65	D>N		No	ClinGen Ensembl
CA2392276 rs780618692	67	R>G		No	ClinGen ExAC gnomAD
rs1575404377 CA352722705	67	R>P		No	ClinGen Ensembl
CA74481587 rs755738224	68	R>C		No	ClinGen Ensembl
CA2392275 rs756873215	70	S>P		No	ClinGen ExAC gnomAD
rs1370779774 CA352722542	76	I>M		No	ClinGen TOPMed
rs755600734 CA2392272	76	I>V		No	ClinGen ExAC TOPMed gnomAD
rs752251563 CA74481549	77	A>S		No	ClinGen ExAC TOPMed gnomAD
rs1575404328 CA352722519	77	A>V		No	ClinGen Ensembl
rs767410688 CA352722513	78	S>C		No	ClinGen ExAC TOPMed gnomAD
RCV001861916 CA2392270 rs767410688	78	S>R		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA74481548 rs201545273	79	K>T		No	ClinGen Ensembl
CA74481545 rs1018470866	80	K>R		No	ClinGen TOPMed
CA352722397 rs1422194430	84	E>G		No	ClinGen gnomAD
TCGA novel	85	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA352722388 rs1264945460	85	P>T		No	ClinGen TOPMed
rs766102417 CA2392267	88	S>I		No	ClinGen ExAC gnomAD
rs751342771 CA2392268	88	S>R		No	ClinGen ExAC TOPMed gnomAD
CA352721208 rs1383799276	91	L>R		No	ClinGen TOPMed
rs1429349583 CA352721214	91	L>V		No	ClinGen gnomAD
CA352721149 rs1262090531	92	E>D		No	ClinGen gnomAD
CA2392225 rs201997520	92	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA352721147 rs1205366710	93	Y>N		No	ClinGen TOPMed gnomAD
TCGA novel	95	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA74481016 rs940624005	95	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
TCGA novel	96	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1559970469 CA352721031	97	H>Q		No	ClinGen Ensembl
CA352720944 rs1328170120	100	D>H		No	ClinGen TOPMed
rs968955761 CA74481007	101	P>H		No	ClinGen TOPMed
rs1553752618 CA352720892	101	P>S		No	ClinGen Ensembl
rs1224863939 CA352720863	102	I>T		No	ClinGen gnomAD
rs1216940990 CA352720869	102	I>V		No	ClinGen gnomAD
CA2392219 rs550829561	103	D>N		No	ClinGen 1000Genomes ExAC gnomAD
rs760155725 CA2392218	104	T>A		No	ClinGen ExAC TOPMed gnomAD
CA2392216 rs142704391 COSM3824130	107	F>L	breast [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1028746179 CA74480917	108	E>*		No	ClinGen TOPMed
CA74480933 rs1028746179	108	E>K		No	ClinGen TOPMed
rs1028746179 CA352720642	108	E>Q		No	ClinGen TOPMed
rs776294469 CA2392214	109	R>Q		No	ClinGen ExAC
CA352720606 rs1429983136	109	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA352720567 rs1177947963	110	E>K		No	ClinGen gnomAD
rs779669893 CA2392211	116	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1404146549 CA352720420	116	I>V		No	ClinGen gnomAD
CA352720339 rs1254471387	118	T>S		No	ClinGen gnomAD
CA2392210 rs771895160	120	E>K		No	ClinGen ExAC gnomAD
CA352720190 rs778805533	122	I>S		No	ClinGen ExAC TOPMed gnomAD
rs778805533 CA2392208	122	I>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2392207 rs757153129	123	E>G		No	ClinGen ExAC gnomAD
CA2392205 rs778120776	125	A>S		No	ClinGen ExAC gnomAD
CA2392184 rs749082327	126	V>A		No	ClinGen ExAC gnomAD
rs1444451939 CA352719932	128	A>T		No	ClinGen TOPMed gnomAD
CA2392183 rs777778390	130	I>V		No	ClinGen ExAC TOPMed gnomAD
CA352719836 rs1411096191	131	N>K		No	ClinGen gnomAD
CA352719849 rs1328932298	131	N>Y		No	ClinGen gnomAD
rs142831772 CA2392180	134	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs751676545 CA2392178 RCV001861903	134	R>Q		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1234032225 CA352719669	137	L>F		No	ClinGen gnomAD
CA352719606 rs1184621540	139	V>L		No	ClinGen gnomAD
CA2392175 rs750778308	140	E>G		No	ClinGen ExAC TOPMed gnomAD
CA2392174 rs765585957	141	R>C		No	ClinGen ExAC TOPMed gnomAD
CA352719558 rs1293633518	141	R>H		No	ClinGen TOPMed gnomAD
CA74480441 rs969280852	142	Y>H		No	ClinGen TOPMed
rs760201207 CA2392173	143	H>R		No	ClinGen ExAC TOPMed gnomAD
CA352719375 rs1349703968	146	M>I		No	ClinGen gnomAD
rs1444329639 CA352719302	149	L>P		No	ClinGen gnomAD
CA2392172 rs775242736	150	M>L		No	ClinGen ExAC gnomAD
rs1193578603 CA352719261	151	G>R		No	ClinGen TOPMed gnomAD
CA74480132 rs903995621	153	A>V		No	ClinGen Ensembl
CA2392147 rs201032950	154	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs769657593 CA352718943	155	A>S		No	ClinGen ExAC TOPMed gnomAD
rs769657593 CA2392146	155	A>T		No	ClinGen ExAC TOPMed gnomAD
CA2392145 rs761645326	156	V>M		No	ClinGen ExAC gnomAD
CA2392143 rs574588708	164	M>T		No	ClinGen 1000Genomes ExAC gnomAD
rs761573152 CA2392141	172	Q>L		No	ClinGen ExAC gnomAD
rs761573152 CA2392140	172	Q>R		No	ClinGen ExAC gnomAD
CA352717067 rs749772701	174	L>F		No	ClinGen ExAC gnomAD
CA2392119 rs749772701	174	L>V		No	ClinGen ExAC gnomAD
CA352717048 rs1451934818	175	H>Y		No	ClinGen gnomAD
rs756577540 CA2392117	176	L>F		No	ClinGen ExAC gnomAD
rs748563806 CA2392116	179	P>L		No	ClinGen ExAC gnomAD
CA352716899 rs1052975324	180	K>M		No	ClinGen TOPMed gnomAD
rs1052975324 CA74477190	180	K>R		No	ClinGen TOPMed gnomAD
CA352716858 rs1319296211	182	E>Q		No	ClinGen gnomAD
CA352716835 rs1404191418	183	A>G		No	ClinGen TOPMed gnomAD
rs187135232 CA74477188	183	A>T		No	ClinGen 1000Genomes
CA74477176 rs934517078	185	L>M		No	ClinGen TOPMed
rs757156057 CA2392111	188	K>*		No	ClinGen ExAC gnomAD
CA2392110 rs753737887	188	K>M		No	ClinGen ExAC gnomAD
rs757156057 CA2392112	188	K>Q		No	ClinGen ExAC gnomAD
rs1159031477 CA352716546	193	K>N		No	ClinGen TOPMed
rs1372205704 CA352716567	193	K>Q		No	ClinGen gnomAD
rs1241706645 RCV001865698	195	R>*		No	ClinVar dbSNP
rs781731563 CA352716502	195	R>L		No	ClinGen ExAC TOPMed gnomAD
CA2392095 rs781731563	195	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs928230861 CA74476967	195	R>W		No	ClinGen gnomAD
CA352716498 rs1459142351	196	L>I		No	ClinGen TOPMed
CA2392094 rs758054672	199	T>A		No	ClinGen ExAC gnomAD
rs1194206433 CA352716339	200	D>A		No	ClinGen gnomAD
CA2392092 rs778433123	200	D>E		No	ClinGen ExAC gnomAD
CA352716315 rs200703354	201	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA74476862 rs911977359	204	A>V		No	ClinGen TOPMed gnomAD
rs1168096655 CA352716149	206	D>A		No	ClinGen gnomAD
rs1395151997 CA352716157	206	D>N		No	ClinGen gnomAD
rs1383738131 CA352716123	207	V>E		No	ClinGen gnomAD
CA352716125 rs1431303110	207	V>L		No	ClinGen gnomAD
CA352716056 rs1326922421	209	E>D		No	ClinGen TOPMed
rs1287636642 CA352716063	209	E>G		No	ClinGen TOPMed
CA2392086 rs767314630	210	N>D		No	ClinGen ExAC gnomAD
rs774469871 CA2392084	210	N>K		No	ClinGen ExAC gnomAD
CA352716022 rs1445751712	210	N>S		No	ClinGen gnomAD
rs373350055 CA2392068	212	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA352715762 rs1412447475	214	A>P		No	ClinGen TOPMed
rs1050509805 CA74476640	215	D>E		No	ClinGen TOPMed
CA2392067 rs754699919	215	D>H		No	ClinGen ExAC gnomAD
RCV001861667 CA352715721 rs754699919	215	D>Y		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA352715646 rs1223507702	216	Q>H		No	ClinGen gnomAD
rs751418967 CA2392066	217	T>A		No	ClinGen ExAC gnomAD
CA352715588 rs1394908029	219	S>A		No	ClinGen TOPMed
rs766497345 CA2392065	219	S>C		No	ClinGen ExAC
CA352715407 rs1229637492	224	L>R		No	ClinGen TOPMed gnomAD
CA2392061 rs138456917 RCV001289160	225	R>Q		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1316734963 CA352715351	226	G>E		No	ClinGen TOPMed gnomAD
CA74476583 rs866582768	227	E>G		No	ClinGen Ensembl
rs772343264	227	E>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA352715327 rs1386391167	227	E>Q		No	ClinGen gnomAD
rs772343264	227	E>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1428722807 CA352715155	230	K>Q		No	ClinGen gnomAD
CA2392056 rs775993574	232	H>Y		No	ClinGen ExAC gnomAD
CA352715026 rs1386442359	234	P>T		No	ClinGen gnomAD
CA352714913 rs1313459267	236	E>K		No	ClinGen TOPMed gnomAD
rs1277563030 CA352714859	237	N>I		No	ClinGen TOPMed
CA2392036 rs772821386	237	N>K		No	ClinGen ExAC gnomAD
CA352714832 rs1213661231	238	Y>C		No	ClinGen gnomAD
CA74476372 rs868100040	241	P>S		No	ClinGen TOPMed
CA352714768 rs1451089279	242	G>D		No	ClinGen TOPMed gnomAD
rs747643106 CA2392034	242	G>S		No	ClinGen ExAC gnomAD
CA352714760 rs1451089279	242	G>V		No	ClinGen TOPMed gnomAD
CA352714734 rs1382773391	244	V>L		No	ClinGen gnomAD
CA352714722 rs1490441529	245	V>A		No	ClinGen gnomAD
CA74476361 rs374197799	246	T>I		No	ClinGen ESP TOPMed
rs371477009 CA2392033	247	P>L		No	ClinGen ESP ExAC gnomAD
CA74476346 rs576857090	248	H>Y		No	ClinGen 1000Genomes
rs1410787584 CA352714644	250	M>V		No	ClinGen gnomAD
CA352714616 rs1390522458	251	N>S		No	ClinGen TOPMed gnomAD
CA2392030 rs779660591	256	H>Y		No	ClinGen ExAC gnomAD
rs758295796 CA2392029	258	E>G		No	ClinGen ExAC gnomAD
CA352714459 rs1559968834	260	T>I		No	ClinGen Ensembl
rs757623325 CA2392026	261	G>A		No	ClinGen ExAC gnomAD
rs1575402094 CA352714319	266	T>P		No	ClinGen Ensembl
rs777675321 CA74475987	267	R>P		No	ClinGen ExAC TOPMed gnomAD
rs749551140 CA2392004	267	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1158340438 CA352714279	269	P>L		No	ClinGen TOPMed gnomAD
rs756187773 CA2392002	269	P>S		No	ClinGen ExAC gnomAD
rs768056251 CA2392000	270	P>L		No	ClinGen ExAC TOPMed gnomAD
CA352714259 rs1575402066	271	E>G		No	ClinGen Ensembl
CA352714236 rs1366554899	272	P>R		No	ClinGen TOPMed gnomAD
CA74475959 rs200736711	273	N>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2391995 rs753555653	278	I>V		No	ClinGen ExAC gnomAD
CA2391994 rs763689986	281	A>T		No	ClinGen ExAC gnomAD
rs1559968630 CA352714051	282	K>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA352714034 rs1261395178	283	A>S		No	ClinGen gnomAD
CA352713991 rs11539148	285	N>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
RCV002062289 rs11539148 RCV000424979 CA2391993	285	N>S		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1307590384 RCV001508144 CA352713965	286	F>L		No	ClinGen ClinVar TOPMed dbSNP
rs1243944923 CA352713906	290	Y>C		No	ClinGen TOPMed
CA2391951 rs751172766	293	A>V		No	ClinGen ExAC gnomAD
rs762805367 CA2391949	294	N>K		No	ClinGen ExAC TOPMed gnomAD
rs766338397 CA2391950	294	N>S		No	ClinGen ExAC gnomAD
rs540036773 CA2391948	295	N>S		No	ClinGen ExAC TOPMed gnomAD
RCV000522110 CA352712781 rs540036773	295	N>T		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA352712640 rs1163160268	297	I>M		No	ClinGen gnomAD
rs1333540392 CA352712643	297	I>S		No	ClinGen TOPMed
CA74475187 rs962335441	297	I>V		No	ClinGen TOPMed
CA2391946 rs762054345	299	F>L		No	ClinGen ExAC gnomAD
rs1553752019 RCV001858064 COSM584033 CA352712501	301	R>H	lung large_intestine Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
rs1306938303 CA352712314	307	P>R		No	ClinGen TOPMed gnomAD
rs1472312290 CA352712330	307	P>S		No	ClinGen gnomAD
CA2391944 rs538322353	308	E>A		No	ClinGen 1000Genomes ExAC gnomAD
rs1483886839 CA352712249	309	K>E		No	ClinGen gnomAD
rs772575870 CA2391941	312	A>T		No	ClinGen ExAC gnomAD
CA2391940 rs746386543	313	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1349369157 CA352711979	315	F>C		No	ClinGen gnomAD
CA2391939 rs779300608	315	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1277271533 CA352711956	316	T>P		No	ClinGen TOPMed
CA74475118 rs867275185	317	A>S		No	ClinGen TOPMed
rs867275185 CA352711936	317	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA74475105 rs937293445	318	I>N		No	ClinGen TOPMed gnomAD
CA2391935 rs567808853	321	M>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1559968143 CA352711748	321	M>V		No	ClinGen Ensembl
rs1435075957 CA352711473	327	Y>H		No	ClinGen gnomAD
CA2391919 rs771525979	331	K>E		No	ClinGen ExAC gnomAD
rs1178195058 CA352711258	333	T>I		No	ClinGen TOPMed gnomAD
CA2391918 rs749665915	334	Y>C		No	ClinGen ExAC gnomAD
CA352711252 rs1469995048	334	Y>H		No	ClinGen TOPMed gnomAD
CA352711219 rs1251179693	336	S>T		No	ClinGen gnomAD
CA352711192 rs1174267054	338	Y>F		No	ClinGen TOPMed
CA352711177 rs1248091156	340	D>N		No	ClinGen gnomAD
CA352711153 rs1460899898	341	Q>R		No	ClinGen TOPMed
rs148533374 CA74474917	343	Y>H		No	ClinGen ESP
CA352711087 rs1209992432	344	A>P		No	ClinGen gnomAD
COSM190495 rs749995144 CA2391912	344	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA352711058 rs1347552948	345	W>*		No	ClinGen gnomAD
rs1219473152 CA352711068	345	W>R		No	ClinGen gnomAD
rs757249021 CA2391910	347	V>A		No	ClinGen ExAC gnomAD
CA74474887 rs984591523	349	L>V		No	ClinGen Ensembl
rs893113155 CA74474883	350	I>S		No	ClinGen Ensembl
CA352710951 COSM1046031 rs1450459883	351	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA2391887 rs752600100	353	G>D		No	ClinGen ExAC gnomAD
CA2391888 rs755884179	353	G>S		No	ClinGen ExAC
CA352710787 rs1170391746	355	A>V		No	ClinGen gnomAD
CA2391885 rs759809999	357	V>A		No	ClinGen ExAC gnomAD
CA2391886 rs767628964	357	V>M		No	ClinGen ExAC gnomAD
CA352710719 rs1473503861	358	C>W		No	ClinGen gnomAD
CA2391883 rs766590522	361	R>Q		No	ClinGen ExAC gnomAD
rs763512186 CA2391882	362	G>V		No	ClinGen ExAC TOPMed gnomAD
CA352710532 rs1391292145	365	L>F		No	ClinGen gnomAD
CA74474665 rs962759884	365	L>P		No	ClinGen gnomAD
rs1219996043 CA352710452	369	N>I		No	ClinGen gnomAD
CA74474631 rs147332278	372	P>S		No	ClinGen ESP TOPMed
rs1380081309 CA352710355	374	P>L		No	ClinGen TOPMed
CA352710366 rs1360650190	374	P>S		No	ClinGen TOPMed
rs1291230207 CA352710323	375	W>*		No	ClinGen gnomAD
CA2391878 rs777116688	378	R>H		No	ClinGen ExAC gnomAD
rs185476065 CA74474609	378	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1410720009 CA352710241	379	P>S		No	ClinGen gnomAD
CA352710155 rs1350852240	381	E>K		No	ClinGen gnomAD
rs774390158 CA74474577	383	S>A		No	ClinGen Ensembl
rs1001806893 CA74474574	383	S>L		No	ClinGen TOPMed
CA352709956 rs1291156079	386	L>F		No	ClinGen TOPMed
CA352709926 rs899079673	387	F>S		No	ClinGen TOPMed gnomAD
CA2391875 rs749042622	388	E>Q		No	ClinGen ExAC TOPMed gnomAD
COSM1046030 CA2391850 rs554429440	391	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA2391849 rs746827969 COSM1046029	391	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA352709473 rs1160898871	393	G>V		No	ClinGen TOPMed
rs780409899 CA2391848	394	K>E		No	ClinGen ExAC gnomAD
CA352709371 rs1236386438	396	S>L		No	ClinGen TOPMed gnomAD
rs758759632 CA2391847	397	E>Q		No	ClinGen ExAC gnomAD
rs1386524025 CA352709264	400	A>D		No	ClinGen gnomAD
rs775904786 CA2391841	404	M>L		No	ClinGen ExAC gnomAD
rs907202044 CA74474318	405	K>*		No	ClinGen Ensembl
CA352709031 rs1390028553	409	E>G		No	ClinGen gnomAD
CA2391840 rs765950058	411	G>S		No	ClinGen ExAC gnomAD
rs1045641743 CA74474311	413	M>R		No	ClinGen TOPMed
CA352708838 rs1045641743	413	M>T		No	ClinGen TOPMed
rs1575400845 CA352708810	414	D>A		No	ClinGen Ensembl
CA352708811 rs1430336797	414	D>Y		No	ClinGen gnomAD
rs769378726 CA2391837	419	R>*		No	ClinGen ExAC TOPMed gnomAD
CA2391835 rs538483140	419	R>L		No	ClinGen 1000Genomes ExAC gnomAD
CA2391836 rs538483140	419	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA352708630 rs1352173321	422	Y>C		No	ClinGen gnomAD
rs918533004 CA74474255	424	P>A		No	ClinGen TOPMed gnomAD
rs918533004 CA74474251	424	P>S		No	ClinGen TOPMed gnomAD
CA2391830 rs772362130	425	H>Y		No	ClinGen ExAC gnomAD
rs1402402195 CA352708526	426	H>D		No	ClinGen TOPMed gnomAD
CA352708529 rs1402402195	426	H>N		No	ClinGen TOPMed gnomAD
CA352708458 rs1428175641	428	T>I		No	ClinGen gnomAD
rs753924453 CA352708388	430	D>N		No	ClinGen ExAC TOPMed gnomAD
rs753924453 CA2391824	430	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA2391823 rs778340693	431	K>T		No	ClinGen ExAC TOPMed gnomAD
CA2391822 rs756584384	432	W>R		No	ClinGen ExAC gnomAD
CA352708180 rs1456791515	436	P>H		No	ClinGen gnomAD
rs1294643628 RCV000498206 CA352708137	438	Y>*		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA74473828 rs1020521977	438	Y>C		No	ClinGen TOPMed
COSM190493 CA74473840 rs899025964	438	Y>H	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
rs764347049 CA74473817	439	D>N		No	ClinGen TOPMed
CA352708045 rs1223834136	440	Y>C		No	ClinGen gnomAD
rs759401412 CA2391789	441	T>I		No	ClinGen ExAC gnomAD
rs771127174 CA2391787	443	C>S		No	ClinGen ExAC gnomAD
CA2391785 rs769757389	445	C>*		No	ClinGen ExAC gnomAD
rs551512975 CA74473719	446	D>G		No	ClinGen 1000Genomes
COSM1046028 CA74473709 rs957599864	449	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs769836405 CA2391783	450	H>Y		No	ClinGen ExAC
CA2391776 rs780291852	457	T>A		No	ClinGen ExAC gnomAD
rs376599645 CA2391775	459	E>K		No	ClinGen ESP ExAC gnomAD
CA2391774 rs753464195	460	F>L		No	ClinGen ExAC gnomAD
CA74473659 rs1034806136	461	Q>R		No	ClinGen TOPMed gnomAD
rs763877937 CA2391773	462	A>T		No	ClinGen ExAC gnomAD
rs373289986 CA74473632	462	A>V		No	ClinGen ESP TOPMed gnomAD
rs755674457 CA2391772 RCV001858060	463	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs549522450 CA2391756	464	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	464	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1368856009 CA352707037	465	S>F		No	ClinGen TOPMed
rs267599865 CA352707024	466	S>C		No	ClinGen gnomAD
CA74473456 rs267599865	466	S>F		No	ClinGen gnomAD
rs1559967310 CA352707002	467	Y>*		No	ClinGen Ensembl
rs752198497 CA2391753	469	W>C		No	ClinGen ExAC gnomAD
rs933017250 CA74473441	470	L>F		No	ClinGen TOPMed gnomAD
CA352706893 rs1559967291	470	L>P		No	ClinGen Ensembl
CA74473432 rs941153059	472	N>D		No	ClinGen Ensembl
CA352706793 rs1416895710	472	N>I		No	ClinGen gnomAD
rs1064797070 CA352706721	473	A>G		No	ClinGen TOPMed gnomAD
CA16617989 RCV000481762 rs1064797070	473	A>V		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs754909328 CA2391751	474	L>V		No	ClinGen ExAC gnomAD
rs1367183765 CA352706680	475	D>H		No	ClinGen gnomAD
rs1049916467 CA74473428	477	Y>H		No	ClinGen Ensembl
rs766391690 CA2391749	479	P>S		No	ClinGen ExAC TOPMed gnomAD
CA352706462 rs1241337787	481	Q>*		No	ClinGen Ensembl
CA352706282 rs762645121	484	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs750282631 CA2391747	486	R>C		No	ClinGen ExAC gnomAD
rs936828606 CA74473367	488	N>S		No	ClinGen TOPMed
CA2391746 rs765374604	490	H>Y		No	ClinGen ExAC gnomAD
CA2391745 rs762033221	491	Y>C		No	ClinGen ExAC gnomAD
CA16611310 rs1060502308 RCV001865416	493	V>D		No	ClinGen ClinVar Ensembl dbSNP
CA2391743 rs768754604	495	S>F		No	ClinGen ExAC gnomAD
rs1273961058 CA352705923	497	R>T		No	ClinGen gnomAD
CA2391742 rs760849163	499	I>T		No	ClinGen ExAC gnomAD
CA74473349 rs945078330	501	Q>P		No	ClinGen Ensembl
rs1240158027 CA352705702	505	T>A		No	ClinGen TOPMed
rs772704640 CA2391740	505	T>I		No	ClinGen ExAC gnomAD
rs746153912 CA2391739	506	G>A		No	ClinGen ExAC gnomAD
CA2391737 RCV001858061 rs769522516	509	R>Q		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA352705338 rs1196079818	514	P>L		No	ClinGen gnomAD
RCV001861668 CA2391710 rs377454880	515	R>Q		No	ClinGen ClinVar ESP ExAC dbSNP gnomAD
rs764216449 CA2391709	520	T>K		No	ClinGen ExAC TOPMed gnomAD
CA2391702 rs767053528	524	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA2391703 rs774980346 RCV000415807	524	R>W		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1363549666 CA352704926	525	R>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA352704929 rs1363549666	525	R>Q		No	ClinGen gnomAD
rs768134087 CA2391699	530	E>Q		No	ClinGen ExAC gnomAD
CA74473008 rs773994067	531	A>D		No	ClinGen gnomAD
rs769641391 CA2391698	531	A>T		No	ClinGen ExAC gnomAD
CA2391697 rs774819969	532	I>M		No	ClinGen ExAC gnomAD
TCGA novel	532	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA74473002 rs531336216	533	N>K		No	ClinGen Ensembl
CA74472982 rs1042158369	534	N>H		No	ClinGen Ensembl
CA352704633 rs1455687990	535	F>L		No	ClinGen TOPMed
RCV001861669 rs1553751717	538	R>missing		No	ClinVar dbSNP
rs1189734887 CA352704179	547	T>A		No	ClinGen gnomAD
CA2391684 rs763565296	547	T>R		No	ClinGen ExAC gnomAD
rs961339434 CA74472900	548	M>T		No	ClinGen TOPMed
CA352704162 rs1196352302	548	M>V		No	ClinGen gnomAD
rs773398354 CA2391683	549	E>G		No	ClinGen ExAC gnomAD
rs765660706 CA2391682	550	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs775185486 CA2391680	551	H>Y		No	ClinGen ExAC gnomAD
CA74472891 rs574307111	554	E>D		No	ClinGen 1000Genomes
rs1294758889 CA352703995	555	A>G		No	ClinGen gnomAD
rs879232053 CA74472888	556	C>S		No	ClinGen Ensembl
rs1415130029 CA352703911	557	V>M		No	ClinGen TOPMed
rs150328993 CA2391676	558	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs749254902 CA2391675	558	R>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	558	R>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	563	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs974143738 CA74472865	563	D>N		No	ClinGen TOPMed gnomAD
rs1559966797 RCV001861919	564	T>missing		No	ClinVar dbSNP
CA2391674 rs777611930	566	P>L		No	ClinGen ExAC gnomAD
rs141184565 CA2391672	567	R>G		No	ClinGen ExAC gnomAD
rs1468382416 CA352703565	567	R>P		No	ClinGen gnomAD
rs1182421210 CA352703540	569	M>V		No	ClinGen gnomAD
CA352703449 rs755259427	571	V>G		No	ClinGen ExAC TOPMed gnomAD
rs781475272 CA2391671	571	V>M		No	ClinGen ExAC gnomAD
CA352703442 rs1559966768	572	L>V		No	ClinGen Ensembl
rs1291215376 CA352703413	573	E>G		No	ClinGen TOPMed
rs1468553612 CA352703384	575	L>V		No	ClinGen gnomAD
CA74472835 rs748878219	579	I>T		No	ClinGen Ensembl
CA352702007 rs1280577753	579	I>V		No	ClinGen gnomAD
rs762223639 CA352701886	582	F>L		No	ClinGen ExAC gnomAD
CA74472818 rs867222540	583	P>L		No	ClinGen Ensembl
rs889695838 CA74472821	583	P>T		No	ClinGen TOPMed
CA352701832 rs1441681467	585	A>T		No	ClinGen gnomAD
CA352701581 rs1204185581	590	I>M		No	ClinGen TOPMed
rs923115953 CA74472699	593	P>L		No	ClinGen TOPMed gnomAD
CA2391637 rs372524045	594	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs372524045 CA2391638 RCV001861914	594	N>T		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA2391636 rs148882908	596	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1271518024 CA352701463	596	P>S		No	ClinGen gnomAD
CA2391634 rs761674829	597	A>P		No	ClinGen ExAC TOPMed gnomAD
rs776523307 CA2391633	599	E>K		No	ClinGen ExAC gnomAD
rs768537533 CA2391632	601	K>E		No	ClinGen ExAC gnomAD
CA352701282 rs972789446	602	G>A		No	ClinGen TOPMed gnomAD
CA74472678 rs972789446	602	G>V		No	ClinGen TOPMed gnomAD
rs1415189676 CA352701130	607	P>L		No	ClinGen gnomAD
rs62621222 RCV001509219 CA2391630	609	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs909987369 CA74472657	609	A>V		No	ClinGen Ensembl
rs201757914 CA2391628	610	P>S		No	ClinGen ExAC gnomAD
rs757743183 CA2391627	611	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1169271940 CA352701002	611	I>V		No	ClinGen TOPMed gnomAD
CA352700959 rs1416719790	612	V>A		No	ClinGen gnomAD
TCGA novel	613	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756458504 CA2391623	614	I>M		No	ClinGen ExAC gnomAD
COSM292200 CA2391625 rs749765066	614	I>V	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA2391622 rs571159624	615	E>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs1275271200 CA352700861	617	T>N		No	ClinGen gnomAD
rs1275271200 CA352700859	617	T>S		No	ClinGen gnomAD
rs1294163804 CA352700778	619	F>C		No	ClinGen TOPMed gnomAD
CA352700783 rs1294163804	619	F>S		No	ClinGen TOPMed gnomAD
rs758004160 CA2391620	619	F>V		No	ClinGen ExAC gnomAD
CA352700748 rs1356055816	620	K>R		No	ClinGen Ensembl
rs1401677250 CA352700572	622	E>K		No	ClinGen gnomAD
CA352700520 rs1410755718	623	P>L		No	ClinGen TOPMed gnomAD
CA352700484 rs1484977972	625	P>Q		No	ClinGen gnomAD
rs758025209 CA352700458 CA2391599	626	G>R		No	ClinGen ExAC TOPMed gnomAD
COSM163875 CA352700424 rs1317330890	627	F>L	breast [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs750008591 CA2391598	627	F>S		No	ClinGen ExAC gnomAD
CA2391596 rs139730889 RCV001861671	629	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs753463624 CA2391595	632	W>*		No	ClinGen ExAC TOPMed gnomAD
rs753463624 CA352700289	632	W>C		No	ClinGen ExAC TOPMed gnomAD
rs1575399265 CA352700299	632	W>G		No	ClinGen Ensembl
rs1287960174 CA352700257	634	Q>*		No	ClinGen gnomAD
rs1431896699 CA352700234	634	Q>H		No	ClinGen gnomAD
rs1469844418 CA352700225	635	P>S		No	ClinGen TOPMed
rs1362904365 CA352700085	641	T>A		No	ClinGen gnomAD
CA2391592 rs775375268	644	V>I		No	ClinGen ExAC gnomAD
rs767187216 CA2391591	645	I>T		No	ClinGen ExAC gnomAD
CA2391590 rs370397423	646	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs774424848 CA2391589	647	L>P		No	ClinGen ExAC TOPMed gnomAD
CA2391587 rs145343705	648	Q>H		No	ClinGen ESP ExAC gnomAD
rs1009235138 CA74472504	649	H>Y		No	ClinGen TOPMed gnomAD
CA2391586 rs773296739	651	V>I		No	ClinGen ExAC gnomAD
CA352699831 rs1305301786	652	K>R		No	ClinGen gnomAD
CA74472432 COSM1538244 rs1013287948	653	G>C	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs770657741 COSM1423871 RCV000658959 CA2391560	653	G>D	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD
CA74472427 rs865998076	655	S>I		No	ClinGen TOPMed gnomAD
rs1298749529 CA352699634	656	G>V		No	ClinGen gnomAD
CA2391558 rs777618796	658	V>A		No	ClinGen ExAC gnomAD
rs1260177795 CA352699546	660	S>R		No	ClinGen TOPMed
rs1458391724 CA352699540	661	L>M		No	ClinGen TOPMed
CA352699490 rs1575399028	663	V>G		No	ClinGen Ensembl
rs752320395 CA2391556	663	V>L		No	ClinGen ExAC gnomAD
rs140225766 CA2391555	664	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1575399021 CA352699417	665	C>*		No	ClinGen Ensembl
rs1249750231 CA352699410 RCV001861904	666	R>I		No	ClinGen ClinVar dbSNP gnomAD
rs374312387 CA2391553	668	A>T		No	ClinGen ESP ExAC gnomAD
rs756380392 CA74472407	673	K>M		No	ClinGen Ensembl
CA352699269 rs766197862	674	P>A		No	ClinGen ExAC gnomAD
CA2391552 rs766197862	674	P>S		No	ClinGen ExAC gnomAD
CA352699202 rs1212733559	676	A>G		No	ClinGen TOPMed gnomAD
CA352699201 rs1212733559	676	A>V		No	ClinGen TOPMed gnomAD
rs1333307946 CA352699178	677	F>C		No	ClinGen Ensembl
CA74472401 rs142441496	678	I>T		No	ClinGen ESP
rs1559966086 CA352699041	681	V>A		No	ClinGen Ensembl
CA352698932 rs765497781 CA2391549	686	M>I		No	ClinGen ExAC TOPMed gnomAD
CA352698895 rs1335625299	687	C>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA352698863 rs1368936063	689	V>I		No	ClinGen gnomAD
rs370934093 RCV000416268 CA2391546	690	R>C		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001756110 rs201781920 CA2391545	690	R>H		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs201781920 CA74472386	690	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs778797651 CA74472383	691	L>F		No	ClinGen Ensembl
CA74472379 rs921379455	692	Y>H		No	ClinGen Ensembl
rs746293241 CA2391542 COSM1423870	694	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA352698755 rs772994973	694	R>P		No	ClinGen ExAC gnomAD
CA2391541 rs772994973	694	R>Q		No	ClinGen ExAC gnomAD
CA2391540 rs376482152	695	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1298512218 CA352698524	698	H>Q		No	ClinGen gnomAD
CA74472295 rs369669069	698	H>Y		No	ClinGen ESP TOPMed gnomAD
CA352698410 rs746554229	701	P>A		No	ClinGen ExAC gnomAD
CA2391517 rs746554229	701	P>S		No	ClinGen ExAC gnomAD
CA352698388 rs1414509657	702	E>G		No	ClinGen gnomAD
rs1165789955 CA352698354	704	P>L		No	ClinGen gnomAD
CA2391515 rs527504481	704	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA352698294 rs1474841324	706	E>V		No	ClinGen TOPMed gnomAD
CA2391514 rs778699748	708	P>A		No	ClinGen ExAC TOPMed gnomAD
rs778699748 CA2391513	708	P>S		No	ClinGen ExAC TOPMed gnomAD
CA2391511 rs754059664	709	G>S		No	ClinGen ExAC gnomAD
TCGA novel	712	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA352698046 rs1575398734	713	S>R		No	ClinGen Ensembl
CA2391509 rs756214242	713	S>T		No	ClinGen ExAC gnomAD
CA2391508 rs752830145	714	D>E		No	ClinGen ExAC gnomAD
CA74472269 rs373642539	716	N>S		No	ClinGen Ensembl
rs781454677 CA352697629	722	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1432543651 CA352697593	723	V>A		No	ClinGen TOPMed
rs368078728 CA74472200	726	A>T		No	ClinGen ESP TOPMed
rs980893506 CA74472197	727	L>*		No	ClinGen TOPMed
rs1398390958 CA352697454	728	V>L		No	ClinGen TOPMed
TCGA novel	729	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs562453484 CA2391482	731	S>C		No	ClinGen 1000Genomes ExAC gnomAD
rs532922380 CA2391483	731	S>P		No	ClinGen 1000Genomes ExAC gnomAD
RCV001856804 rs763741745 CA2391481	732	V>A		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA74472193 rs374208427	732	V>M		No	ClinGen ESP TOPMed
rs1407459744 CA352697237	733	A>G		No	ClinGen gnomAD
CA2391479 rs150380021	734	L>R		No	ClinGen ESP ExAC
CA352697191 rs1158532613	735	A>T		No	ClinGen gnomAD
TCGA novel	736	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749055007 RCV001861902 CA352697005	739	D>Y		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA352696978 CA352696974 rs777452461	740	K>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	741	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA352696959 rs1282040984	741	F>L		No	ClinGen TOPMed gnomAD
CA352696967 rs1323325877	741	F>L		No	ClinGen gnomAD
CA352696966 rs1323325877	741	F>V		No	ClinGen gnomAD
CA352696929 rs1239412542	742	Q>*		No	ClinGen gnomAD
rs370685207 CA74472167 CA352696904	742	Q>H		No	ClinGen ESP TOPMed
rs1488099449 CA352696897	743	F>L		No	ClinGen TOPMed
CA352696869 rs1353791428	743	F>S		No	ClinGen gnomAD
CA352696803 rs1234673016	745	R>C		No	ClinGen gnomAD
rs770019480 CA2391471	745	R>H		No	ClinGen ExAC TOPMed gnomAD
CA352696653 rs1293778465	750	S>F		No	ClinGen gnomAD
rs755099989 CA2391468	751	V>A		No	ClinGen ExAC gnomAD
rs780539823 CA2391466	752	D>V		No	ClinGen ExAC
rs142480574 CA2391465	754	D>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA2391462 rs762203649	755	S>G		No	ClinGen ExAC gnomAD
rs1559965636 CA352696498	756	H>R		No	ClinGen Ensembl
CA352696470 rs1426097729	757	Q>R		No	ClinGen gnomAD
rs1324687960 CA352696402	759	K>N		No	ClinGen TOPMed gnomAD
rs780017791 CA2391449	760	L>V		No	ClinGen ExAC gnomAD
CA2391448 rs758895480	761	V>I		No	ClinGen ExAC TOPMed gnomAD
CA352695158 rs1219604039	762	F>S		No	ClinGen gnomAD
CA74471438 rs960768621	763	N>Y		No	ClinGen Ensembl
rs1291965738 COSM190488 CA352695091	764	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs779522277 CA2391446	766	V>A		No	ClinGen ExAC gnomAD
CA352694983 rs1171701223	769	K>R		No	ClinGen gnomAD
rs1465926273 CA352694969	770	E>D		No	ClinGen gnomAD
CA352694963 rs1388810452	771	D>A		No	ClinGen TOPMed
rs765773382 CA2391440	772	P>A		No	ClinGen ExAC gnomAD
rs1256807971 CA352694934	772	P>L		No	ClinGen gnomAD
CA352694943 rs765773382	772	P>S		No	ClinGen ExAC gnomAD
rs373300144 CA2391438	774	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1198954154 CA352694907	774	K>R		No	ClinGen TOPMed gnomAD
rs765329131 CA2391437	776	V>S		No	ClinGen ExAC gnomAD

1 associated diseases with P47897

[MIM: 615760]: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy (MSCCA)

A severe, autosomal recessive, neurodevelopmental and neurodegenerative disorder characterized by progressive microcephaly, severe seizures in infancy, atrophy of the cerebral cortex and cerebellar vermis, and mild atrophy of the cerebellar hemispheres, resulting in profoundly delayed development and hypotonia. {ECO:0000269|PubMed:24656866, ECO:0000269|PubMed:26869582}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A severe, autosomal recessive, neurodevelopmental and neurodegenerative disorder characterized by progressive microcephaly, severe seizures in infancy, atrophy of the cerebral cortex and cerebellar vermis, and mild atrophy of the cerebellar hemispheres, resulting in profoundly delayed development and hypotonia. {ECO:0000269|PubMed:24656866, ECO:0000269|PubMed:26869582}. Note=The disease is caused by variants affecting the gene represented in this entry.

5 regional properties for P47897

Type	Name	Position	InterPro Accession
conserved_site	Aminoacyl-tRNA synthetase, class I, conserved site	270 - 281	IPR001412
domain	Glutaminyl-tRNA synthetase, class Ib, non-specific RNA-binding domain 2	165 - 254	IPR007638
domain	Glutaminyl-tRNA synthetase, class Ib, non-specific RNA-binding domain, N-terminal	7 - 162	IPR007639
domain	Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain	263 - 562	IPR020058
domain	Glutamyl/glutaminyl-tRNA synthetase, class Ib, anti-codon binding domain	565 - 752	IPR020059

Functions

		Description
EC Number	6.1.1.18	Ligases forming aminoacyl-tRNA and related compounds
Subcellular Localization	Cytoplasm, cytosol Cytoplasm
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
aminoacyl-tRNA synthetase multienzyme complex	A multienzyme complex found in all multicellular eukaryotes composed of eight proteins with aminoacyl-tRNA synthetase activities (abbreviated as: ArgRS, AspRS, GluProRS, GlnRS, IleRS, LeuRS, LysRS, MetRS where RS is the enzyme, preceded by the amino acid it uses as a substrate) as well as three non-synthetase proteins (p43, p38, and p18) with diverse functions. Several of these subunits are known dimers, so the total polypeptide count in the multisynthetase complex is at least fifteen. All of the enzymes in this assembly catalyze the same reaction, the covalent attachment of an amino acid to either the 2'- or 3'-hydroxyl of the 3'-terminal adenosine of tRNA, but using different substrates.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
mitochondrial matrix	The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty acid oxidation.
protein-containing complex	A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together.

4 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
glutamine-tRNA ligase activity	Catalysis of the reaction: ATP + L-glutamine + tRNA(Gln) = AMP + diphosphate + L-glutaminyl-tRNA(Gln).
protein kinase binding	Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate.
protein kinase inhibitor activity	Binds to and stops, prevents or reduces the activity of a protein kinase, an enzyme which phosphorylates a protein.

7 GO annotations of biological process

Name	Definition
brain development	The process whose specific outcome is the progression of the brain over time, from its formation to the mature structure. Brain development begins with patterning events in the neural tube and ends with the mature structure that is the center of thought and emotion. The brain is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.).
glutaminyl-tRNA aminoacylation	The process of coupling glutamine to glutaminyl-tRNA, catalyzed by glutaminyl-tRNA synthetase. The glutaminyl-tRNA synthetase is a class-I synthetase. The activated amino acid is transferred to the 2'-OH group of a glutamine-accetping tRNA. The 2'-O-aminoacyl-tRNA will ultimately migrate to the 3' position via transesterification.
negative regulation of apoptotic signaling pathway	Any process that stops, prevents or reduces the frequency, rate or extent of apoptotic signaling pathway.
negative regulation of DNA-templated transcription	Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription.
negative regulation of protein kinase activity	Any process that stops, prevents, or reduces the frequency, rate or extent of protein kinase activity.
negative regulation of stress-activated MAPK cascade	Any process that stops, prevents, or reduces the frequency, rate or extent of signal transduction mediated by the stress-activated MAPK cascade.
tRNA aminoacylation for protein translation	The synthesis of aminoacyl tRNA by the formation of an ester bond between the 3'-hydroxyl group of the most 3' adenosine of the tRNA and the alpha carboxylic acid group of an amino acid, to be used in ribosome-mediated polypeptide synthesis.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P13188	GLN4	Glutamine--tRNA ligase	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
O62431	qars-1	Probable glutamine--tRNA ligase	Caenorhabditis elegans	PR

10	20	30	40	50	60
MAALDSLSLF	TSLGLSEQKA	RETLKNSALS	AQLREAATQA	QQTLGSTIDK	ATGILLYGLA
70	80	90	100	110	120
SRLRDTRRLS	FLVSYIASKK	IHTEPQLSAA	LEYVRSHPLD	PIDTVDFERE	CGVGVIVTPE
130	140	150	160	170	180
QIEEAVEAAI	NRHRPQLLVE	RYHFNMGLLM	GEARAVLKWA	DGKMIKNEVD	MQVLHLLGPK
190	200	210	220	230	240
LEADLEKKFK	VAKARLEETD	RRTAKDVVEN	GETADQTLSL	MEQLRGEALK	FHKPGENYKT
250	260	270	280	290	300
PGYVVTPHTM	NLLKQHLEIT	GGQVRTRFPP	EPNGILHIGH	AKAINFNFGY	AKANNGICFL
310	320	330	340	350	360
RFDDTNPEKE	EAKFFTAICD	MVAWLGYTPY	KVTYASDYFD	QLYAWAVELI	RRGLAYVCHQ
370	380	390	400	410	420
RGEELKGHNT	LPSPWRDRPM	EESLLLFEAM	RKGKFSEGEA	TLRMKLVMED	GKMDPVAYRV
430	440	450	460	470	480
KYTPHHRTGD	KWCIYPTYDY	THCLCDSIEH	ITHSLCTKEF	QARRSSYFWL	CNALDVYCPV
490	500	510	520	530	540
QWEYGRLNLH	YAVVSKRKIL	QLVATGAVRD	WDDPRLFTLT	ALRRRGFPPE	AINNFCARVG
550	560	570	580	590	600
VTVAQTTMEP	HLLEACVRDV	LNDTAPRAMA	VLESLRVIIT	NFPAAKSLDI	QVPNFPADET
610	620	630	640	650	660
KGFHQVPFAP	IVFIERTDFK	EEPEPGFKRL	AWGQPVGLRH	TGYVIELQHV	VKGPSGCVES
670	680	690	700	710	720
LEVTCRRADA	GEKPKAFIHW	VSQPLMCEVR	LYERLFQHKN	PEDPTEVPGG	FLSDLNLASL
730	740	750	760	770
HVVDAALVDC	SVALAKPFDK	FQFERLGYFS	VDPDSHQGKL	VFNRTVTLKE	DPGKV