AiPD: Autoinhibited Protein Database

P11217

Gene name	PYGM
Protein name	Glycogen phosphorylase, muscle form
Names	CD11 antigen-like family member B, CR-3 alpha chain, Cell surface glycoprotein MAC-1 subunit alpha, Leukocyte adhesion receptor MO1, Neutrophil adherence receptor, Myophosphorylase
Species	Homo sapiens (Human)
KEGG Pathway	hsa:5837
EC number	2.4.1.1: Hexosyltransferases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-47 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-47 (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

2 structures for P11217

Entry ID	Method	Resolution	Chain	Position	Source
1Z8D	X-ray	230 A	A	1-842	PDB
AF-P11217-F1	Predicted				AlphaFoldDB

893 variants for P11217

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs267606993 RCV000668678 RCV000144425	1	M>L	Glycogen storage disease, type V [ClinVar]	Yes	ClinVar dbSNP
RCV001244574 rs2058423391	1	M>T	Glycogen storage disease, type V [ClinVar]	Yes	ClinVar dbSNP
RCV000002399 RCV001579810 rs267606993	1	M>V	Glycogen storage disease, type V [ClinVar]	Yes	ClinVar dbSNP
RCV000726186 RCV001274029 rs374812974 CA6080395	3	R>Q	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs199565370 CA6080396 RCV001105035	3	R>W	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs772194378 RCV000409435	5	L>missing	Glycogen storage disease, type V [ClinVar]	Yes	ClinVar dbSNP
rs886048464 CA10631142 RCV000312915	8	Q>K	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000706083 rs770037766	10	K>missing	Glycogen storage disease, type V [ClinVar]	Yes	ClinVar dbSNP
rs145881639 RCV001274028 CA6080380 COSM467210 RCV000726775	21	G>S	kidney Glycogen storage disease, type V [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000396772 rs140731551 RCV000399009 CA10606633	22	V>M	Variant assessed as Somatic; 0.0 impact. Glycogen storage disease, type V [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ESP NCI-TCGA TOPMed dbSNP gnomAD
rs1555136828 RCV000666086	23	E>missing	Glycogen storage disease, type V [ClinVar]	Yes	ClinVar dbSNP
RCV001008110 RCV000169106 rs755117847	27	E>missing	Glycogen storage disease, type V [ClinVar]	Yes	ClinVar dbSNP
CA10638975 rs886048463 RCV000290610	33	N>S	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1394188143 RCV001205755 CA381112838	36	L>R	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs2058422018 RCV001244443	38	F>missing	Glycogen storage disease, type V [ClinVar]	Yes	ClinVar dbSNP
RCV001051694 rs2058421657	43	D>missing	Glycogen storage disease, type V [ClinVar]	Yes	ClinVar dbSNP
RCV002519132 CA6080365 RCV000280338 rs567482511	44	R>H	Variant assessed as Somatic; 0.0 impact. Glycogen storage disease, type V [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV000002388 CA222884 rs116987552 RCV000081306 RCV001730469 RCV000622729 RCV002251857	50	R>*	Glycogen storage disease, type V Muscular atrophy Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV002564046 rs758175735 RCV001242840 CA6080358	50	R>Q	Glycogen storage disease, type V Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
VAR_085195	50	R>del	GSD5 [UniProt]	Yes	UniProt
RCV000033140 CA261238 rs397514631	51	D>G	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV000033141 rs1325298827	53	Y>missing	Glycogen storage disease, type V [ClinVar]	Yes	ClinVar dbSNP
rs1325298827 RCV000674546	53	Y>missing	Glycogen storage disease, type V [ClinVar]	Yes	ClinVar dbSNP
RCV000761777 rs148839812 RCV002536375 CA6080357 RCV000785674 RCV000703766	54	F>V	Glycogen storage disease, type V Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs780193588 RCV001216334	55	A>missing	Glycogen storage disease, type V [ClinVar]	Yes	ClinVar dbSNP
RCV000693856 COSM930191 rs765962705 CA6080352	60	V>M	Variant assessed as Somatic; 0.0 impact. Glycogen storage disease, type V endometrium [NCI-TCGA, ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA238832 RCV000173380 RCV000828466 rs145514333 RCV000664912	61	R>H	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001277996 rs149658961 CA6080349	65	V>M	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs750857876 RCV000665175	67	R>missing	Glycogen storage disease, type V [ClinVar]	Yes	ClinVar dbSNP
rs1057516349 RCV000411559 CA16041507	68	W>*	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000489454 CA6080344 RCV001272370 rs765844107	70	R>C	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000409722 rs1057517361 CA16041506	73	Q>*	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000669604 rs1555136752	74	H>missing	Glycogen storage disease, type V [ClinVar]	Yes	ClinVar dbSNP
RCV000412395 rs1057516329	84	Y>missing	Glycogen storage disease, type V [ClinVar]	Yes	ClinVar dbSNP
RCV000412392 rs1057517145 CA16041505	84	Y>*	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000409457 rs1057516629	85	Y>missing	Glycogen storage disease, type V [ClinVar]	Yes	ClinVar dbSNP
CA345696 rs527236146 RCV000128551	85	Y>*	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000664848 rs1555136540	88	L>missing	Glycogen storage disease, type V [ClinVar]	Yes	ClinVar dbSNP
RCV001540069 CA6080314 RCV000557171 rs370247862	94	R>W	Variant assessed as Somatic; 0.0 impact. Glycogen storage disease, type V [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA6080306 rs147571836 RCV001277995	113	T>I	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar ESP ExAC dbSNP gnomAD
CA6080276 VAR_014002 rs776680924 RCV000666659	116	L>P	Glycogen storage disease, type V GSD5 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC dbSNP gnomAD
RCV001277994 rs759361512 CA6080277	116	L>V	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000668184 rs1555136459 CA381109873	124	E>*	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001103122 CA6080273 RCV000994653 rs200430286	130	A>V	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs2058409644 RCV001309764	131	G>R	Glycogen storage disease, type V [ClinVar]	Yes	ClinVar dbSNP
RCV000722868 RCV000821091 rs1565538121	132	L>missing	Glycogen storage disease, type V [ClinVar]	Yes	ClinVar dbSNP
CA6080270 CA381109644 RCV000761339 rs780246932	135	G>R	Variant assessed as Somatic; 0.0 impact. Glycogen storage disease, type V [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs786204723 RCV000169547	136	G>missing	Glycogen storage disease, type V [ClinVar]	Yes	ClinVar dbSNP
CA223888331 rs367990192 RCV000671584	139	R>W	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000411763 rs1057517400	149	A>missing	Glycogen storage disease, type V [ClinVar]	Yes	ClinVar dbSNP
rs753687960 CA6080243 RCV001277993	155	A>T	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001304660 rs2058407754	157	G>D	Glycogen storage disease, type V [ClinVar]	Yes	ClinVar dbSNP
RCV000671611 CA6080241 rs760654579 RCV002282315	159	G>R	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000666983 rs200038732 CA6080240	161	R>C	Variant assessed as Somatic; 0.0 impact. Glycogen storage disease, type V [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs760531401 CA6080237 RCV001064694	168	N>H	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA6080233 RCV000812757 rs141265458 RCV000523818	173	G>R	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000673149 CA381108786 rs1555136375	174	G>D	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs2058407169 RCV001047414	175	W>missing	Glycogen storage disease, type V [ClinVar]	Yes	ClinVar dbSNP
RCV001201547 rs747495987 CA6080231	176	Q>P	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA6080209 rs551666681 RCV000377529	181	D>N	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs604595 RCV000128546 CA345690	188	N>K	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001531738 rs77656150 CA148399 RCV000960580 RCV000081314	193	A>S	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs376581557 CA6080199 RCV001239256 RCV001751473 VAR_014003	194	R>W	Glycogen storage disease, type V GSD5 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC dbSNP gnomAD
CA6080197 rs773595572 RCV000320655	197	F>L	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000414632 VAR_003431 rs119103251 CA339962 RCV000002389	205	G>S	Glycogen storage disease, type V GSD5 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001829517 CA6080188 rs371343340 RCV000520440	206	H>Q	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001277992 rs753533515 CA6080180 RCV001508673	220	Q>K	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA6080160 RCV001277990 rs772025653	223	L>V	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs2058388882 RCV001068074	228	D>missing	Glycogen storage disease, type V [ClinVar]	Yes	ClinVar dbSNP
RCV001242320 CA381180260 rs1312195500	243	R>H	Variant assessed as Somatic; 0.0 impact. Glycogen storage disease, type V [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar NCI-TCGA TOPMed dbSNP
CA6080138 rs779706675 RCV000695186	245	W>C	Variant assessed as Somatic; 0.0 impact. Glycogen storage disease, type V [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD
CA381180231 RCV000669374 rs1555135785	246	S>P	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs143071876 RCV000259737 CA6080133	251	N>S	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs115690781 RCV001108320 CA6080114 RCV000521120	259	N>S	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000169167 CA274003 RCV000627209 rs767739769	270	R>*	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs768576604 RCV000658597 RCV001277988 CA6080108	273	A>V	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000370261 rs114468011 CA234752 RCV000723895	283	N>S	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_014004 rs780375860 RCV002469240 RCV000666175 CA6080080	292	L>P	Glycogen storage disease, type V GSD5; rare mutation [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
RCV000522784 RCV002229955 rs558267822 CA6080079 RCV000313797	293	R>W	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001280478 CA6080075 rs778061067	310	R>C	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs759130375 RCV001281578 RCV002537920 CA6080074	310	R>H	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA6080063 CA381178577 RCV001044179 rs770104418	323	V>L	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001241614 RCV003166506 rs758682386 CA6080056	328	D>H	Glycogen storage disease, type V Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000791057 rs1592412131	349	E>missing	Glycogen storage disease, type V [ClinVar]	Yes	ClinVar dbSNP
VAR_014005	349	E>K	GSD5 [UniProt]	Yes	UniProt
CA275527 RCV000723508 RCV001822854 rs116135678 RCV000185576	365	A>V	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001280477 rs1592411804	376	T>A	Glycogen storage disease, type V [ClinVar]	Yes	ClinVar dbSNP
RCV000672453 CA223900777 rs954192338	377	N>Y	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000494108 RCV001036939 rs757681143 CA6079985	383	E>K	Glycogen storage disease, type V Variant assessed as Somatic; 5.085e-05 impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs1465752595 CA381176666 RCV000671988	384	A>V	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000368305 rs200357590 CA6079984 RCV001086488	387	R>H	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001242446 rs2058376262	388	W>missing	Glycogen storage disease, type V [ClinVar]	Yes	ClinVar dbSNP
RCV001280476 rs2058376345	388	W>C	Glycogen storage disease, type V [ClinVar]	Yes	ClinVar dbSNP
rs759336535 RCV000785120 CA6079978	392	L>P	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000173815 rs71581787 RCV000675638 RCV000306631 CA200729	395	T>M	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA252202 rs119103254 RCV000002394	396	L>P	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1005687078 CA223900711 RCV001062130 RCV001557247 VAR_003432	397	L>P	Glycogen storage disease, type V GSD5 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP gnomAD
COSM3356228 rs773204705 CA6079975 RCV000667688	398	P>L	Glycogen storage disease, type V haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD
rs548646628 RCV000398154 CA6079972	399	R>Q	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001207539 rs2058375583	400	H>Y	Glycogen storage disease, type V [ClinVar]	Yes	ClinVar dbSNP
RCV003133295 RCV000512889 rs757762621 CA6079967	406	E>D	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs781394907 RCV001280475 CA6079968	406	E>K	Variant assessed as Somatic; 0.0 impact. Glycogen storage disease, type V [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs142054672 RCV000675637 RCV001079321 CA239269	413	N>Y	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs11231866 CA148392 VAR_061198 RCV000081303 RCV000128547 RCV000675636	414	R>G	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA6079939 rs767347157 COSM1509544 RCV001280474	416	A>V	lung Glycogen storage disease, type V [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD
CA381176063 RCV001579119 RCV000597525 CA6079931 rs372851103	424	D>E	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ESP ExAC TOPMed gnomAD ClinVar dbSNP
rs750700202 COSM1509545 CA223900355 RCV000670645	428	R>C	lung Variant assessed as Somatic; 0.0 impact. Glycogen storage disease, type V [Cosmic, NCI-TCGA, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs1212604 CA345692 RCV000128548	430	S>L	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1555135069 RCV000670975	438	K>missing	Glycogen storage disease, type V [ClinVar]	Yes	ClinVar dbSNP
RCV002543428 RCV001849247 CA6079917 rs758774720	439	R>C	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA6079913 RCV000281232 RCV000483076 rs568496266	447	I>L	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
rs749358752 RCV002525220 RCV001829516 RCV000675635 CA6079911	448	A>T	Glycogen storage disease, type V Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs370291854 CA239582 RCV001104930 RCV000174112	448	A>V	Variant assessed as Somatic; 0.0 impact. Glycogen storage disease, type V [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ESP NCI-TCGA TOPMed dbSNP gnomAD
CA6079910 rs769172044 RCV001275777 RCV000657906	449	G>R	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA6079907 rs756251887 RCV000671505 RCV000338366 RCV001778878	450	S>L	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA6079901 rs151213354 RCV000793021 RCV002535881	453	V>I	Glycogen storage disease, type V Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs398124208 CA222880 RCV000790687 RCV000169330	456	V>M	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA6079893 RCV001104929 rs377371768	459	I>V	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs769805782 CA6079889 RCV001280473	462	E>K	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001053055 rs758131128 CA6079857 RCV000478747	478	H>R	Variant assessed as Somatic; 0.0 impact. Glycogen storage disease, type V [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD
RCV001566705 CA6079856 rs750032282 RCV000691441 RCV003163152	479	K>R	Glycogen storage disease, type V Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
VAR_014006 CA381175087 RCV000670812 rs1555134900	488	T>N	Glycogen storage disease, type V GSD5 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA222882 RCV000081305 RCV001047041 rs398124209	489	P>R	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs752622662 RCV000675078 CA6079853 RCV000480329	489	P>S	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs886041476 RCV001387933 RCV000341453	490	R>missing	Glycogen storage disease, type V [ClinVar]	Yes	ClinVar dbSNP
RCV001233784 rs2058367842	493	L>missing	Glycogen storage disease, type V [ClinVar]	Yes	ClinVar dbSNP
RCV002069314 CA6079821 rs575153481 RCV001247938	507	R>H	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001214599 rs2058363821	511	D>missing	Glycogen storage disease, type V [ClinVar]	Yes	ClinVar dbSNP
rs1057516612 RCV000409188	511	D>missing	Glycogen storage disease, type V [ClinVar]	Yes	ClinVar dbSNP
rs139570786 RCV000509394 RCV001849178 RCV000675632 CA240092	513	I>V	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001063010 rs2058363627	516	L>missing	Glycogen storage disease, type V [ClinVar]	Yes	ClinVar dbSNP
rs200481790 CA6079811 RCV001103029	520	R>C	Variant assessed as Somatic; 0.0 impact. Glycogen storage disease, type V [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs1592410003 CA381173882 RCV000805625	521	K>*	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA252211 RCV000002400 rs119103257	541	E>*	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
VAR_003433 RCV000002390 CA339963 rs119103252 RCV000723828	543	K>T	Glycogen storage disease, type V GSD5 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV001063572 rs1311913891	553	E>*	Glycogen storage disease, type V [ClinVar]	Yes	ClinVar dbSNP
RCV000409547 rs1057516259	561	N>missing	Glycogen storage disease, type V [ClinVar]	Yes	ClinVar dbSNP
COSM1322266 rs377225525 RCV000995849 CA6079775 RCV001823175	570	R>W	ovary Variant assessed as Somatic; 0.0 impact. Glycogen storage disease, type V [Cosmic, NCI-TCGA, ClinVar]	Yes	ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs752848974 RCV000410338 CA6079772	573	E>*	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000002404 RCV001091630 CA252213 rs119103260	574	Y>*	Glycogen storage disease, type V [ClinVar]	Yes	ClinVar dbSNP ClinGen ESP TOPMed
rs786200874 RCV000002398	575	K>missing	Glycogen storage disease, type V [ClinVar]	Yes	ClinVar dbSNP
RCV000778335 rs1315020035 CA381170544	575	K>E	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV000002397 COSM1222834 RCV000578544 rs119103255 CA252206	576	R>*	Variant assessed as Somatic; 0.0 impact. Glycogen storage disease, type V large_intestine [NCI-TCGA, ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV000988571 rs1592409633	579	L>missing	Glycogen storage disease, type V [ClinVar]	Yes	ClinVar dbSNP
rs1592409631 RCV000991439	581	C>missing	Glycogen storage disease, type V [ClinVar]	Yes	ClinVar dbSNP
RCV001103028 rs760543538 CA6079768	583	H>R	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA6079765 RCV001202839 rs761438921	587	L>P	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001242319 RCV002564023 rs140016055 CA6079762	589	N>S	Glycogen storage disease, type V Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs150622626 RCV001103026 RCV000675629 CA6079735	596	N>S	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs769960481 RCV000169141	599	F>missing	Glycogen storage disease, type V [ClinVar]	Yes	ClinVar dbSNP
RCV002221250 rs373190458 RCV000779073 CA6079730 COSM689678 RCV000727737	602	R>Q	lung Glycogen storage disease, type V [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA6079731 VAR_014007 rs750195683	602	R>W	GSD5 [UniProt]	Yes	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
RCV003129885 RCV000523949 rs1419658107 CA381169451	612	P>A	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001103025 rs142008108 RCV001355325 CA6079693	620	I>T	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001722323 RCV000245345 RCV000296404 CA6079690 rs143217651	624	V>I	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV002532359 RCV000596502 CA6079683 RCV000837922 RCV001088368 rs115347245	630	V>M	Glycogen storage disease, type V Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000797617 CA381168926 rs1592409000	639	D>Y	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000384511 RCV001280469 CA6079677 rs771016457	640	R>C	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs116180923 CA6079674 RCV002519079 RCV000657929 RCV001088058 RCV000319373	642	R>C	Glycogen storage disease, type V Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs150098198 RCV000519020 RCV002527593 RCV001271475 CA6079673	642	R>H	Glycogen storage disease, type V Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs2058354383 RCV001239494	650	R>missing	Glycogen storage disease, type V [ClinVar]	Yes	ClinVar dbSNP
rs114073621 RCV000498994 CA6079669	650	R>*	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP
CA222886 RCV002227444 rs61736659 RCV000763760 RCV000723589	653	L>V	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA252200 RCV000002392 rs119103253 VAR_003434	655	E>K	Variant assessed as Somatic; 0.0 impact. Glycogen storage disease, type V GSD5 [NCI-TCGA, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC NCI-TCGA dbSNP gnomAD
VAR_014008	660	A>D	GSD5 [UniProt]	Yes	UniProt
RCV000002393 CA252201 VAR_014009 rs119103256	666	Q>E	Glycogen storage disease, type V GSD5 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP
RCV000175189 RCV001091629 rs113806080 RCV000988570 CA201342	670	A>V	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV002546261 RCV001328499 rs2058348746	674	A>T	Glycogen storage disease, type V [ClinVar]	Yes	ClinVar dbSNP
RCV002516665 CA240894 RCV000175191 rs794727189	675	S>L	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs755716626 RCV001108217 CA6079653	678	G>S	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1309230359 CA381167992 RCV001280468	683	M>V	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA381167979 RCV000790369 rs1592408348	685	N>H	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_014010	685	N>Y	GSD5 [UniProt]	Yes	UniProt
VAR_014011 RCV000002396 CA252204 RCV001091628 rs144081869	686	G>R	Glycogen storage disease, type V GSD5 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
VAR_014012	687	A>P	GSD5 [UniProt]	Yes	UniProt
RCV000988569 rs1592408302	692	T>missing	Glycogen storage disease, type V [ClinVar]	Yes	ClinVar dbSNP
rs200688234 RCV001574604 RCV000695169 CA6079645	693	M>T	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs773543072 RCV001267843	694	D>E	Glycogen storage disease, type V [ClinVar]	Yes	ClinVar dbSNP
RCV000815465 CA6079643 rs768604948	695	G>R	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs984250045 RCV001280467 CA223897759	703	E>K	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA381167696 rs1483102315 VAR_014013 RCV001204475	704	A>V	Glycogen storage disease, type V GSD5 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP gnomAD
VAR_014014	709	F>del	GSD5; common in Japanese patients [UniProt]	Yes	UniProt
RCV000128553 rs527236147	710	F>missing	Glycogen storage disease, type V [ClinVar]	Yes	ClinVar dbSNP
rs1057517067 RCV000410560	713	G>missing	Glycogen storage disease, type V [ClinVar]	Yes	ClinVar dbSNP
CA381167557 RCV000670902 rs780656375	715	R>W	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs2058321851 RCV001220462	728	N>missing	Glycogen storage disease, type V [ClinVar]	Yes	ClinVar dbSNP
RCV001280465 rs200058475 CA6079607	728	N>D	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001211508 CA6079603 rs140102591	733	Y>*	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
COSM1355760 CA6079600 RCV001280464 rs760277933	735	R>H	Glycogen storage disease, type V large_intestine Variant assessed as Somatic; 4.62e-05 impact. [ClinVar, Cosmic, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs1057517058 RCV000411646	744	E>missing	Glycogen storage disease, type V [ClinVar]	Yes	ClinVar dbSNP
rs758842259 RCV000669349	751	F>missing	Glycogen storage disease, type V [ClinVar]	Yes	ClinVar dbSNP
rs1565531453 RCV001246104	754	K>missing	Glycogen storage disease, type V [ClinVar]	Yes	ClinVar dbSNP
RCV000175318 RCV000081311 rs398124210	754	K>missing	Glycogen storage disease, type V [ClinVar]	Yes	ClinVar dbSNP
RCV001222438 rs2058320138	755	Q>missing	Glycogen storage disease, type V [ClinVar]	Yes	ClinVar dbSNP
RCV001060397 CA6079584 rs754822104	760	K>Q	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs75685607 CA6079580 RCV001423332 RCV002298792 RCV000828467	762	I>M	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA6079579 rs190548494 RCV001551241 RCV000274335	764	N>D	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000283436 rs369382075 RCV003133207 CA6079571	771	R>G	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000669086 CA6079570 COSM2164156 rs150911354 RCV000493384	771	R>Q	Glycogen storage disease, type V haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs369382075 CA6079572 RCV000366581	771	R>W	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001105987 rs2058315823	773	K>N	Glycogen storage disease, type V [ClinVar]	Yes	ClinVar dbSNP
rs1462767117 RCV000668989	774	V>missing	Glycogen storage disease, type V [ClinVar]	Yes	ClinVar dbSNP
RCV001508669 rs1057517001 RCV000409053 CA16041493	784	C>*	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001339896 rs2058315104	791	L>F	Glycogen storage disease, type V [ClinVar]	Yes	ClinVar dbSNP
rs757292296 CA6079543 RCV000808053	792	Y>C	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001653505 CA6079525 rs577589879 RCV000270920	797	E>Q	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC dbSNP
RCV000081312 CA6079524 RCV000631182 RCV000002402 CA222889 rs119103258 VAR_014015	798	W>R	Glycogen storage disease, type V GSD5 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
RCV001105985 CA6079522 rs377401213	799	T>M	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA6079520 RCV000363298 rs759260599	800	R>W	Variant assessed as Somatic; 0.0 impact. Glycogen storage disease, type V [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD
RCV001226356 rs1213033233 CA381163422	813	S>P	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
COSM1161006 RCV001855083 RCV000763759 RCV000321977 CA6079510 rs143177272 RCV002518814	816	R>C	Glycogen storage disease, type V large_intestine haematopoietic_and_lymphoid_tissue Inborn genetic diseases [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000675627 RCV000081313 CA222890 rs139230055 RCV001104843	816	R>H	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000399460 CA10635242 rs886048460	817	T>N	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs747567834 RCV000824381 CA381163090	822	A>D	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA6079501 RCV001222199 rs757670205	832	R>C	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001104842 rs2058310112	839	D>V	Glycogen storage disease, type V [ClinVar]	Yes	ClinVar dbSNP
CA16041492 rs1057516529 RCV000409749	843	I>L	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA381162327 CA381162326 rs1400353740 RCV000674827	843	I>R	Glycogen storage disease, type V [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA6080394 rs752266996	4	P>L		No	ClinGen ExAC TOPMed gnomAD
CA6080392 rs764749317	6	S>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	11	R>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6080388 rs772411515	12	K>R		No	ClinGen ExAC gnomAD
TCGA novel	14	I>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1388586019 CA381113230	14	I>T		No	ClinGen TOPMed gnomAD
rs1032877990 CA223889439	15	S>G		No	ClinGen TOPMed
rs375188510 CA6080387	16	V>A		No	ClinGen ExAC gnomAD
rs555856016 CA223889435	16	V>M		No	ClinGen 1000Genomes
CA6080386 rs774650561	17	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6080384 rs148159796	17	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1196742852 CA381113117	19	L>P		No	ClinGen gnomAD
CA6080383 rs535560622	19	L>V		No	ClinGen 1000Genomes ExAC gnomAD
CA6080382 rs775674324	20	A>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1403210693 CA381113068	23	E>D		No	ClinGen TOPMed
rs760855386 CA223889409	23	E>G		No	ClinGen Ensembl
rs146845353 CA6080377	25	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA381113026 rs777515712	26	T>I		No	ClinGen ExAC gnomAD
rs777515712 CA6080376	26	T>S		No	ClinGen ExAC gnomAD
CA381112997 rs1305717617	27	E>G		No	ClinGen TOPMed
CA381113014 rs1434873172	27	E>K		No	ClinGen gnomAD
rs1592417170 CA381112990	28	L>M		No	ClinGen Ensembl
CA6080373 rs764779249	30	K>R		No	ClinGen ExAC gnomAD
rs753484236 CA6080371	34	R>Q		No	ClinGen ExAC gnomAD
rs531748591 CA6080372	34	R>W		No	ClinGen ExAC TOPMed gnomAD
CA381112828 rs1170598133	37	H>R		No	ClinGen gnomAD
CA381112808 rs1478945166	38	F>L		No	ClinGen gnomAD
rs762103405 CA6080369	39	T>A		No	ClinGen ExAC gnomAD
CA223889352 rs897159798	39	T>I		No	ClinGen Ensembl
CA6080367 rs764465584	41	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6080366 rs763488434	44	R>C		No	ClinGen ExAC gnomAD
CA6080364 rs769985937	45	N>S		No	ClinGen ExAC TOPMed gnomAD
CA381112570 rs1565538897	48	T>A		No	ClinGen Ensembl
rs368649966 CA6080359	49	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1420873872 CA381112494	52	Y>D		No	ClinGen Ensembl
rs375646075 CA6080356	54	F>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA381112419 rs1331894446	55	A>T		No	ClinGen gnomAD
rs1416006850 CA381112348 COSM1746445	58	H>R	urinary_tract [Cosmic]	No	ClinGen cosmic curated gnomAD
CA6080354 rs754417088	59	T>I		No	ClinGen ExAC gnomAD
rs754417088 CA381112319	59	T>N		No	ClinGen ExAC gnomAD
CA381112285 rs1413461008	61	R>C		No	ClinGen TOPMed gnomAD
rs1413461008 CA381112288	61	R>G		No	ClinGen TOPMed gnomAD
rs1592416979 CA381112221	63	H>L		No	ClinGen Ensembl
CA381112196 rs1208434944	65	V>E		No	ClinGen gnomAD
rs149658961 CA6080350	65	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6080348 rs763289422	66	G>V		No	ClinGen ExAC gnomAD
CA6080345 rs957181304	67	R>C		No	ClinGen TOPMed
rs371357163 CA223889220	67	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA gnomAD
rs765844107 CA381112063	70	R>G		No	ClinGen ExAC TOPMed gnomAD
rs759631990 CA381112055	70	R>H		No	ClinGen ExAC TOPMed gnomAD
CA6080343 rs759631990	70	R>L		No	ClinGen ExAC TOPMed gnomAD
rs759631990 CA381112056	70	R>P		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	70	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs377713922 CA6080342	71	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA381111987 rs1182739938	73	Q>H		No	ClinGen TOPMed
CA6080340 rs760927188	73	Q>R		No	ClinGen ExAC gnomAD
CA381111974 rs1450912823	74	H>R		No	ClinGen TOPMed
CA381111977 rs1248467384	74	H>Y		No	ClinGen TOPMed
rs773361937 CA6080339	75	Y>*		No	ClinGen ExAC gnomAD
rs1449944847 CA381111939	75	Y>C		No	ClinGen TOPMed gnomAD
CA381111949 rs1349100815	75	Y>H		No	ClinGen TOPMed gnomAD
rs1466112694 CA381111915	76	Y>F		No	ClinGen TOPMed
rs1025481959 CA223889195	79	D>Y		No	ClinGen TOPMed gnomAD
rs771895781 CA6080338	81	K>R		No	ClinGen ExAC gnomAD
CA6080320 rs761616685	83	I>F		No	ClinGen ExAC TOPMed gnomAD
CA6080319 rs774159335	84	Y>C		No	ClinGen ExAC gnomAD
CA381111592 rs1344134587	84	Y>H		No	ClinGen gnomAD
rs373310140 CA6080318	85	Y>H		No	ClinGen ESP ExAC gnomAD
CA381111424 rs1435533547	92	M>V		No	ClinGen gnomAD
rs1085307918 CA381111386 RCV000489939	93	G>V		No	ClinGen ClinVar Ensembl dbSNP
CA6080313 rs375233791	95	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs917916740 CA223888552	97	Q>*		No	ClinGen TOPMed
CA381111274 rs1169625293	97	Q>H		No	ClinGen gnomAD
CA6080311 rs780840197	100	M>I		No	ClinGen ExAC gnomAD
rs528545908 CA381111210	100	M>R		No	ClinGen ExAC TOPMed gnomAD
CA6080312 rs528545908	100	M>T		No	ClinGen ExAC TOPMed gnomAD
CA381111162 rs1427813602	103	L>Q		No	ClinGen TOPMed
rs1032965056 CA223888544	104	A>S		No	ClinGen Ensembl
rs935327691 CA223888541	106	E>Q		No	ClinGen TOPMed gnomAD
CA381111005 rs1251356910	110	D>G		No	ClinGen gnomAD
CA6080308 rs779392056	111	E>K		No	ClinGen ExAC TOPMed gnomAD
CA381110941 rs1592415865	113	T>P		No	ClinGen Ensembl
CA381110893 rs1310345038	115	Q>E		No	ClinGen gnomAD
CA223888502 rs879158851	115	Q>L		No	ClinGen gnomAD
CA381110890 rs879158851	115	Q>R		No	ClinGen gnomAD
TCGA novel	119	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1230252473 CA381109951	120	M>I		No	ClinGen TOPMed gnomAD
rs374898083 CA6080274	120	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA223888373 rs886943655	120	M>V		No	ClinGen TOPMed
rs1319212857 CA381109915	122	E>*		No	ClinGen gnomAD
CA381109910 rs1320036556	122	E>G		No	ClinGen gnomAD
CA381109862 rs1592415687	125	E>K		No	ClinGen Ensembl
CA381109831 rs1592415683	126	I>T		No	ClinGen Ensembl
CA381109787 rs1383044080	128	E>G		No	ClinGen TOPMed
rs1306098829 CA381109803	128	E>K		No	ClinGen TOPMed
rs1385683915 CA381109734	130	A>S		No	ClinGen gnomAD
CA381109708 rs1358136040	131	G>A		No	ClinGen TOPMed
rs1085308021 CA381109682 RCV000489796	133	G>S		No	ClinGen ClinVar Ensembl dbSNP
CA381109650 rs372262267	134	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs780246932 CA381109641	135	G>W		No	ClinGen ExAC TOPMed gnomAD
rs1246112610 CA381109629	136	G>S		No	ClinGen gnomAD
CA6080269 rs756547364	136	G>V		No	ClinGen ExAC TOPMed gnomAD
CA381109607 rs1592415587	137	L>M		No	ClinGen Ensembl
rs1592415581 CA381109605	137	L>Q		No	ClinGen Ensembl
rs367990192 CA6080265	139	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs777926738 CA381109575	139	R>P		No	ClinGen ExAC gnomAD
rs777926738 CA6080264	139	R>Q		No	ClinGen ExAC gnomAD
CA381109554 rs1341970396	141	A>T		No	ClinGen TOPMed gnomAD
CA223888322 rs112384150	141	A>V		No	ClinGen Ensembl
rs758650710 CA6080263	142	A>T		No	ClinGen ExAC gnomAD
CA381109363 rs779198403	147	S>C		No	ClinGen ExAC gnomAD
CA6080245 rs779198403	147	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA381109358 rs1409331279	148	M>V		No	ClinGen gnomAD
TCGA novel	149	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1029208168 CA223888207	149	A>V		No	ClinGen Ensembl
CA381109309 rs1368981072	150	T>A		No	ClinGen gnomAD
CA6080244 rs145285313	152	G>S		No	ClinGen ESP ExAC gnomAD
CA223888185 rs933845688	156	Y>C		No	ClinGen TOPMed gnomAD
CA223888189 rs976337682	156	Y>N		No	ClinGen TOPMed gnomAD
CA381109134 rs766020669	158	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA381109099 rs1592415404	160	I>V		No	ClinGen Ensembl
rs1471375354 CA381109058	161	R>H		No	ClinGen TOPMed gnomAD
CA381109023 rs1253584213	163	E>A		No	ClinGen gnomAD
TCGA novel	167	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761451188 CA6080238	167	F>L		No	ClinGen ExAC
RCV000597743 rs1555136390	168	N>*		No	ClinVar dbSNP
CA381108884 rs1278522566	169	Q>E		No	ClinGen gnomAD
rs1198128007 CA381108856	170	K>E		No	ClinGen gnomAD
rs141265458 CA6080234	173	G>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6080214 rs773648975	177	M>L		No	ClinGen ExAC TOPMed gnomAD
CA6080213 rs773648975	177	M>V		No	ClinGen ExAC TOPMed gnomAD
CA6080212 rs772653455	179	E>K		No	ClinGen ExAC TOPMed gnomAD
rs748134029 CA6080211	179	E>V		No	ClinGen ExAC
CA381108021 rs1223885403	183	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA6080208 rs749507354	185	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6080207 rs780489639	185	R>H		No	ClinGen ExAC TOPMed gnomAD
CA381107996 rs749507354	185	R>S		No	ClinGen ExAC TOPMed gnomAD
rs755904043 CA6080206	186	Y>C		No	ClinGen ExAC gnomAD
CA6080203 rs757251754	187	G>C		No	ClinGen ExAC TOPMed gnomAD
rs757251754 CA6080204	187	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1365127902 CA381107956	188	N>D		No	ClinGen TOPMed gnomAD
rs751492787 CA6080202	189	P>S		No	ClinGen ExAC gnomAD
rs1247889064 CA381107933	190	W>R		No	ClinGen gnomAD
rs149597150 CA6080201	192	K>N		No	ClinGen ESP ExAC gnomAD
CA381107856 rs1226003414	193	A>D		No	ClinGen gnomAD
rs115259855 CA6080198	194	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs773595572 CA381107772	197	F>V		No	ClinGen ExAC TOPMed gnomAD
CA381107756 rs767808700	198	T>A		No	ClinGen ExAC gnomAD
CA6080195 rs762354482	198	T>M		No	ClinGen ExAC TOPMed gnomAD
rs767808700 CA6080196	198	T>P		No	ClinGen ExAC gnomAD
rs774777447 CA6080194	202	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs951044802 CA223887911	204	Y>C		No	ClinGen Ensembl
rs375724338 COSM194067 CA6080190	205	G>D	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA6080187 rs746956492	210	T>S		No	ClinGen ExAC gnomAD
CA6080183 rs532529860	214	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA381180642 rs1592413474	221	V>G		No	ClinGen Ensembl
CA223901719 rs139020880	221	V>L		No	ClinGen ESP gnomAD
CA381180633 rs1178655026	222	V>E		No	ClinGen gnomAD
rs777710532 CA6080161	222	V>I		No	ClinGen ExAC gnomAD
CA6080159 rs370712943	225	M>T		No	ClinGen ESP ExAC gnomAD
rs150232968 CA223901711	228	D>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs150232968 CA6080154	228	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6080155 rs150232968	228	D>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs751890543 COSM930187 CA6080153	229	T>M	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs763524554 CA381180471 CA381180472	231	V>L		No	ClinGen ExAC TOPMed gnomAD
CA6080151 rs763524554	231	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs753306635 CA381180450	232	P>H		No	ClinGen ExAC gnomAD
rs753306635 CA6080150	232	P>L		No	ClinGen ExAC gnomAD
CA6080148 rs373533637	235	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs373533637 CA223901692	235	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs371247639 CA223901684	235	R>H		No	ClinGen ESP TOPMed
rs776850635 CA6080147	237	N>D		No	ClinGen ExAC gnomAD
CA6080146 rs771073706	237	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1478496014 CA381180328	238	V>D		No	ClinGen TOPMed
CA6080143 rs771899003	242	M>T		No	ClinGen ExAC gnomAD
CA381180283 rs1387928557	242	M>V		No	ClinGen gnomAD
CA6080142 rs141055359	243	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs768087596 CA6080140	244	L>F		No	ClinGen ExAC gnomAD
rs772602509 CA223901631	246	S>F		No	ClinGen Ensembl
rs778261564 CA6080136	247	A>P		No	ClinGen ExAC gnomAD
CA6080135 rs778261564	247	A>S		No	ClinGen ExAC gnomAD
rs758890963 CA6080134	249	A>S		No	ClinGen ExAC gnomAD
rs1485980428 CA381180162	249	A>V		No	ClinGen gnomAD
CA381180125 rs1565536682	251	N>D		No	ClinGen Ensembl
rs748653220 CA223901616	251	N>K		No	ClinGen Ensembl
CA6080131 rs149067043	254	N>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6080132 rs149067043	254	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1345108981 CA381180032	255	L>F		No	ClinGen TOPMed
CA223901608 rs931845689	257	D>N		No	ClinGen TOPMed gnomAD
rs779515778 CA6080115	258	F>C		No	ClinGen ExAC gnomAD
rs983163363 CA223901552	260	V>I		No	ClinGen TOPMed
CA223901548 rs1027416437	261	G>D		No	ClinGen TOPMed gnomAD
rs1592413122 CA381179791	266	A>G		No	ClinGen Ensembl
CA6080111 rs756281352	267	V>L		No	ClinGen ExAC TOPMed gnomAD
rs756281352 CA6080112	267	V>M		No	ClinGen ExAC TOPMed gnomAD
CA6080109 rs761545001	270	R>Q		No	ClinGen ExAC gnomAD
rs768576604 CA223901528	273	A>E		No	ClinGen ExAC TOPMed gnomAD
rs1436900766 CA381179651	274	E>D		No	ClinGen TOPMed gnomAD
CA381179607 rs1198004865	276	I>M		No	ClinGen TOPMed gnomAD
CA6080106 rs762779955	278	R>C		No	ClinGen ExAC TOPMed gnomAD
CA6080105 rs775556109	278	R>H	Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs779003186 CA223901504	279	V>F		No	ClinGen gnomAD
CA6080104 rs755084929	283	N>D		No	ClinGen ExAC gnomAD
rs776369912 CA6080103	285	N>K		No	ClinGen ExAC gnomAD
CA381179414 rs1592413056	285	N>T		No	ClinGen Ensembl
rs760388780 CA6080084	286	F>I		No	ClinGen ExAC gnomAD
CA6080083 rs577937797	286	F>L		No	ClinGen 1000Genomes ExAC gnomAD
rs371208037 CA381179256	288	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs371208037 CA6080081	288	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs371208037 CA381179257	288	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA6080078 rs746412712	293	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1358384674 CA381179087	297	E>K		No	ClinGen gnomAD
rs1358384674 CA381179076	297	E>Q		No	ClinGen gnomAD
CA381179010 CA381179009 rs757387408	300	V>L		No	ClinGen ExAC TOPMed gnomAD
CA6080076 rs757387408	300	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1034211898 CA223901213	301	V>A		No	ClinGen Ensembl
rs1314271741 CA381179003	301	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1269053260 CA381178975	302	A>G		No	ClinGen gnomAD
CA381178967 rs1428091238	303	A>P		No	ClinGen gnomAD
rs1592412640 CA381178958	304	T>P		No	ClinGen Ensembl
rs759130375 CA381178827	310	R>P		No	ClinGen ExAC TOPMed gnomAD
CA6080073 rs752563477	311	R>C		No	ClinGen ExAC TOPMed gnomAD
rs147851780 CA6080072	311	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1446923834 CA381178744	314	S>T		No	ClinGen gnomAD
rs1592412583 CA381178688	317	F>S		No	ClinGen Ensembl
rs759517845 CA6080071	317	F>V		No	ClinGen ExAC gnomAD
CA6080069 rs368077182	318	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs1444543008 CA381178651	319	C>Y		No	ClinGen TOPMed
rs1243928315 CA381178634	320	R>C		No	ClinGen gnomAD
COSM3953631 rs139578482 CA6080068	320	R>H	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs150569465 CA6080066	322	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA381178583 rs1474881760	322	P>L		No	ClinGen gnomAD
rs1294857389 CA381178567	323	V>A		No	ClinGen gnomAD
CA381178578 rs770104418	323	V>M		No	ClinGen ExAC TOPMed gnomAD
CA223901181 rs141889634	324	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA6080061 rs139645637	324	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs141889634 CA6080062	324	R>S		No	ClinGen ESP ExAC gnomAD
rs1183419124 CA381178551	325	T>A		No	ClinGen TOPMed
rs536561941 CA6080059	325	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs758682386 CA381178484	328	D>N		No	ClinGen ExAC TOPMed gnomAD
CA381178464 rs1350959154	329	A>T		No	ClinGen gnomAD
CA381178452 rs1474312387	329	A>V		No	ClinGen TOPMed
rs893148729 CA223901178	332	D>N		No	ClinGen TOPMed
rs1408714785 CA381178331	333	K>N		No	ClinGen gnomAD
CA6080032 rs756085033	334	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1233430644 CA381177307	334	V>L		No	ClinGen TOPMed gnomAD
rs1233430644 CA381177310	334	V>M		No	ClinGen TOPMed gnomAD
CA381177283 rs1320723096	335	A>V		No	ClinGen gnomAD
rs1223701129 CA381177246	337	Q>R		No	ClinGen gnomAD
rs1306708756 CA381177227	339	N>Y		No	ClinGen gnomAD
CA381177209 rs1222462807	340	D>N		No	ClinGen gnomAD
CA381177143 rs1271567783	344	S>A		No	ClinGen TOPMed
rs751157254 CA6080028	344	S>C		No	ClinGen ExAC TOPMed gnomAD
rs751157254 CA381177140	344	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1338817779 CA381177117	346	A>D		No	ClinGen gnomAD
rs1403917132 CA381177122	346	A>T		No	ClinGen gnomAD
CA381177102 rs1475448146	347	I>M		No	ClinGen TOPMed
CA381177077 rs1391890581	350	L>V		No	ClinGen TOPMed
rs759846298 CA6080026	352	R>K		No	ClinGen ExAC gnomAD
rs772118747 CA6080021	358	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1030163168 CA223900998	359	R>Q		No	ClinGen TOPMed gnomAD
rs761807664 CA6080020	359	R>W		No	ClinGen ExAC TOPMed gnomAD
CA6080019 rs774663305	361	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1370804680	365	A>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1477931501 CA381176893	366	W>*		No	ClinGen gnomAD
CA381176898 rs1194723619	366	W>*		No	ClinGen gnomAD
rs770807547 CA6079994	369	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1216282513 CA679273843	369	T>M		No	ClinGen TOPMed
CA381176843 rs1489979834	370	V>A		No	ClinGen TOPMed gnomAD
rs1199148288 CA381176847	370	V>M		No	ClinGen gnomAD
rs1339328996 CA381176816	372	T>I		No	ClinGen gnomAD
rs1592411831 CA381176823	372	T>P		No	ClinGen Ensembl
CA381176810 rs537956139	373	C>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs985454554 CA223900796	373	C>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs537956139 CA6079991	373	C>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs752345472 CA6079990	374	A>D		No	ClinGen ExAC gnomAD
rs752345472 CA381176795	374	A>V		No	ClinGen ExAC gnomAD
CA381176777 rs1592411804	376	T>P		No	ClinGen Ensembl
CA381176772 rs1318866113	376	T>S		No	ClinGen gnomAD
CA223900773 rs868865303	377	N>K		No	ClinGen Ensembl
CA381176762 rs1592411787	377	N>T		No	ClinGen Ensembl
rs1131691807 RCV000492946 CA381176728	379	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD
CA381176723 rs988962921 CA223900763	380	V>L		No	ClinGen TOPMed
CA381176715 rs1326594401	381	L>M		No	ClinGen TOPMed
rs1156945983 CA381176709	381	L>P		No	ClinGen Ensembl
CA381176703 rs1371878710	382	P>A		No	ClinGen TOPMed gnomAD
rs1272968595 CA381176695	382	P>L		No	ClinGen TOPMed
CA381176673 rs1169114983	384	A>S		No	ClinGen gnomAD
TCGA novel	386	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA381176654 rs1314690048	386	E>K		No	ClinGen TOPMed
rs926204490 CA223900758	387	R>C		No	ClinGen TOPMed gnomAD
CA381176631 rs200357590	387	R>L		No	ClinGen ExAC TOPMed gnomAD
CA381176634 rs200357590	387	R>P		No	ClinGen ExAC TOPMed gnomAD
CA6079983 rs764264311	388	W>R		No	ClinGen ExAC TOPMed gnomAD
CA6079982 rs149649134	389	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA381176607 rs149649134	389	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA381176614 rs1246589868	389	P>T		No	ClinGen TOPMed
rs1592411679 CA381176588	391	H>P		No	ClinGen Ensembl
CA6079979 CA381176580 rs765402043	391	H>Q		No	ClinGen ExAC gnomAD
CA223900715 rs138260574	392	L>F		No	ClinGen ESP
rs759336535 CA223900712	392	L>H		No	ClinGen ExAC TOPMed gnomAD
CA381176532 rs1592411660	395	T>P		No	ClinGen Ensembl
CA381176524 rs71581787	395	T>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs747675778 CA6079973	399	R>W		No	ClinGen ExAC TOPMed gnomAD
CA6079971 rs754552811	401	L>F		No	ClinGen ExAC TOPMed gnomAD
CA381176452 rs1230887385	402	Q>E		No	ClinGen TOPMed
rs1425476155 CA381176391	405	Y>C		No	ClinGen gnomAD
rs752045365 CA381176344	407	I>S		No	ClinGen ExAC TOPMed gnomAD
rs752045365 CA6079966	407	I>T		No	ClinGen ExAC TOPMed gnomAD
CA381176324 rs1440882452 CA381176325	408	N>K		No	ClinGen gnomAD
rs1482915500 CA381176319	409	Q>E		No	ClinGen TOPMed
CA381176308 rs1420229343	409	Q>H		No	ClinGen TOPMed
CA223900664 rs1045485007	409	Q>R		No	ClinGen TOPMed
rs764712114 CA6079965	410	R>C		No	ClinGen ExAC TOPMed gnomAD
rs764712114 CA381176301	410	R>S		No	ClinGen ExAC TOPMed gnomAD
CA381176266 rs1201907547	412	L>F		No	ClinGen gnomAD
CA381176261 rs1444312604	412	L>H		No	ClinGen gnomAD
CA381176239 rs369313102	413	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA6079964 rs752857036	413	N>S		No	ClinGen ExAC TOPMed gnomAD
rs750184482 CA6079940	414	R>Q		No	ClinGen ExAC gnomAD
CA6079941 rs11231866	414	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA381176187 rs1403970768	415	V>L		No	ClinGen gnomAD
rs767347157 CA381176180	416	A>E		No	ClinGen ExAC gnomAD
rs1345201383 CA381176181	416	A>S		No	ClinGen gnomAD
rs1345201383 CA381176183	416	A>T		No	ClinGen gnomAD
CA381176177 rs1351013593	417	A>T		No	ClinGen gnomAD
rs761724503 CA6079938	418	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA381176149 rs1171569516	419	F>Y		No	ClinGen gnomAD
CA381176126 rs1426882389	420	P>L		No	ClinGen gnomAD
rs767983174 CA6079936	420	P>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA6079935 rs762538125	421	G>E		No	ClinGen ExAC TOPMed gnomAD
rs769602726 CA6079934	422	D>E		No	ClinGen ExAC TOPMed gnomAD
rs562393971 CA223900425	422	D>N		No	ClinGen Ensembl
CA6079932 rs201389731	423	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6079928 rs368608057	425	R>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs368608057 CA6079929	425	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs577821154 CA6079930	425	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs146919445 CA6079926	427	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA381176038 rs756303162	427	R>L		No	ClinGen ExAC TOPMed gnomAD
CA6079924 rs756303162	427	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs146919445 CA6079925	427	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs750700202 CA6079923	428	R>G		No	ClinGen ExAC TOPMed gnomAD
CA6079922 rs767293977	428	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs750700202 CA381176032	428	R>S		No	ClinGen ExAC TOPMed gnomAD
CA381176008 rs1445217077	429	M>T		No	ClinGen TOPMed gnomAD
CA6079920 rs751394888	434	E>*		No	ClinGen ExAC
CA381175912 rs1177963512	435	G>D		No	ClinGen TOPMed gnomAD
rs764115501 CA6079919	435	G>R		No	ClinGen ExAC TOPMed gnomAD
rs199728804 CA381175901	436	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs199728804 CA6079918	436	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6079916 rs769479715	439	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6079915 rs759251930	442	M>T		No	ClinGen ExAC gnomAD
CA381175818 rs1459693899	442	M>V		No	ClinGen gnomAD
rs776496291 COSM1355762 CA6079914	443	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs922555750 CA223900304	443	A>V		No	ClinGen gnomAD
rs1306773818 CA381175802	444	H>R		No	ClinGen gnomAD
rs1592411042 CA381175806	444	H>Y		No	ClinGen Ensembl
TCGA novel	446	C>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1379826043 CA381175789	446	C>S		No	ClinGen gnomAD
CA381175780 rs1483894861	447	I>M		No	ClinGen TOPMed
rs749358752 CA6079912	448	A>P		No	ClinGen ExAC TOPMed gnomAD
CA6079909 rs749805338	449	G>E		No	ClinGen ExAC gnomAD
rs377599118 CA381175761	451	H>Q		No	ClinGen ESP TOPMed gnomAD
CA6079905 rs746021869	452	A>T		No	ClinGen ExAC TOPMed gnomAD
RCV001849580 rs758774720	452	A>T		No	ClinVar dbSNP
CA6079902 rs151213354	453	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA381175747 rs1485352436	454	N>S		No	ClinGen gnomAD
CA381175741 rs1356459572	455	G>D		No	ClinGen gnomAD
CA6079899 rs201042910	455	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs201042910 CA6079898	455	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs398124208 CA381175738	456	V>L		No	ClinGen ExAC TOPMed gnomAD
CA6079895 rs760281187	458	R>C		No	ClinGen ExAC gnomAD
rs774752187 CA6079894	458	R>H		No	ClinGen ExAC gnomAD
CA381175724 rs774752187	458	R>L		No	ClinGen ExAC gnomAD
CA6079891 rs749795443	459	I>T		No	ClinGen ExAC
rs1360941286 CA381175697	461	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA6079888 rs745968794	464	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA381175641 rs555057489	465	K>N		No	ClinGen 1000Genomes ExAC gnomAD
CA381175603 rs1193311638	468	I>T		No	ClinGen TOPMed
CA6079886 rs757470750	468	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1184817467 CA381175508	469	F>S		No	ClinGen TOPMed
CA6079860 rs754940511	470	K>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	471	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1298385 rs142207594 CA6079859	472	F>L	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA
rs777581367 CA6079858	477	P>L		No	ClinGen ExAC TOPMed gnomAD
CA381175366 rs1565534916 RCV000722207	477	P>T		No	ClinGen ClinVar Ensembl dbSNP
COSM930186 rs767125939 CA6079855	481	Q>H	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
RCV000513627 COSM930185 CA223899899 rs926661627	486	G>S	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD
CA381175107 rs1162560413	488	T>A		No	ClinGen TOPMed
CA381175038 rs1592410540	490	R>Q		No	ClinGen Ensembl
CA6079852 COSM116839 rs765612286	490	R>W	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs759977194 CA6079851	491	R>C		No	ClinGen ExAC gnomAD
rs369431327 CA6079849	491	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs369431327 CA6079850	491	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA6079848 rs760721606	493	L>M		No	ClinGen ExAC gnomAD
rs1592410525 CA381174915	494	V>G		No	ClinGen Ensembl
rs1408827992 CA381174925	494	V>I		No	ClinGen TOPMed
rs200101718 CA6079846	498	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA223899849 rs867567820	499	G>R		No	ClinGen TOPMed gnomAD
rs925541886 CA223899845	501	A>T		No	ClinGen Ensembl
rs1592410495 CA381174634	503	V>G		No	ClinGen Ensembl
CA6079845 rs149932883	503	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs544460202 CA6079844	505	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1420860986 CA381174275	507	R>C		No	ClinGen gnomAD
rs575153481 CA6079822	507	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA223899482 rs540436223	508	I>M		No	ClinGen ExAC TOPMed gnomAD
rs755309894 CA223899463 CA381174226	509	G>R		No	ClinGen ExAC TOPMed gnomAD
rs755309894 CA6079818	509	G>W		No	ClinGen ExAC TOPMed gnomAD
rs766794236 CA6079816	511	D>E		No	ClinGen ExAC gnomAD
rs139570786 CA381174048	513	I>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1217202075 CA381174030	513	I>N		No	ClinGen gnomAD
rs1287109702 CA381174014	514	S>A		No	ClinGen gnomAD
TCGA novel	515	D>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762045147 CA6079813	516	L>P		No	ClinGen ExAC TOPMed gnomAD
rs1467786333 CA381173942	517	D>E		No	ClinGen TOPMed
CA223899437 rs201777190	517	D>H		No	ClinGen TOPMed
CA6079810 rs572480976	520	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs745724914 CA6079808	525	F>I		No	ClinGen ExAC gnomAD
CA6079807 rs775496411	527	D>G		No	ClinGen ExAC TOPMed gnomAD
CA381173776 rs1367308757	527	D>Y		No	ClinGen TOPMed
rs1294601732 CA381173760	528	D>G		No	ClinGen TOPMed
rs770412776 CA6079806	529	E>G		No	ClinGen ExAC TOPMed gnomAD
rs769889481 CA223899383	532	I>V		No	ClinGen gnomAD
CA381173625 rs1194180857	533	R>P		No	ClinGen TOPMed gnomAD
rs1194180857 CA381173627	533	R>Q		No	ClinGen TOPMed gnomAD
CA6079805 rs746568228	533	R>W		No	ClinGen ExAC TOPMed gnomAD
rs746031643 CA223899374	534	D>Y		No	ClinGen Ensembl
rs777370585 CA6079804	535	V>A		No	ClinGen ExAC gnomAD
rs757944811 CA6079802	537	K>E		No	ClinGen ExAC TOPMed gnomAD
rs757944811 CA381173532	537	K>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	540	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA223899107 rs119103257	541	E>K		No	ClinGen TOPMed
CA381171095 rs1311913891	553	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1276992097 CA381171059	554	Y>H		No	ClinGen gnomAD
CA6079783 rs747755385	557	H>R		No	ClinGen ExAC gnomAD
CA381170957 rs1308614484	558	I>N		No	ClinGen gnomAD
rs1204741662 CA381170964	558	I>V		No	ClinGen gnomAD
TCGA novel	559	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778688360 CA6079782	559	N>S		No	ClinGen ExAC gnomAD
rs1469650050 CA381170898	561	N>H		No	ClinGen TOPMed
rs1182548085 CA381170852	562	S>L		No	ClinGen TOPMed
CA6079780 rs746276802	563	L>F		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	563	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs116812032 CA223899051	564	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA381170822 rs1425495787	564	F>L		No	ClinGen TOPMed
rs1364727739 COSM176038 CA6079777	565	D>N	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1565534289 RCV000723043 CA381170769	566	I>S		No	ClinGen ClinVar Ensembl dbSNP
CA381170777 rs1592409691	566	I>V		No	ClinGen Ensembl
rs1006658592 CA381170751	567	Q>P		No	ClinGen TOPMed gnomAD
rs1006658592 CA223899044	567	Q>R		No	ClinGen TOPMed gnomAD
CA381170728 rs1309444215	568	V>A		No	ClinGen TOPMed
CA6079776 rs757791045	568	V>M		No	ClinGen ExAC gnomAD
CA6079774 rs143550601	570	R>Q	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs752848974 CA381170622	573	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1180867448 CA381170558	574	Y>C		No	ClinGen gnomAD
rs759218298 CA381170504	576	R>L		No	ClinGen ExAC TOPMed gnomAD
rs759218298 COSM257840 CA6079771	576	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA6079770 rs753587100	578	L>F		No	ClinGen ExAC gnomAD
CA6079769 rs766179801	582	L>F		No	ClinGen ExAC TOPMed gnomAD
CA381170379 rs1239270255	583	H>Q		No	ClinGen TOPMed
CA381170388 rs1437464596	583	H>Y		No	ClinGen TOPMed
CA6079767 rs372302160	584	V>I		No	ClinGen ESP ExAC
CA381170362 rs1181643904	585	I>F		No	ClinGen TOPMed
rs771473972 CA6079766	586	T>N		No	ClinGen ExAC gnomAD
CA381170352 rs1592409609	586	T>P		No	ClinGen Ensembl
rs771473972 CA381170344	586	T>S		No	ClinGen ExAC gnomAD
CA381170339 rs1355883166	587	L>V		No	ClinGen gnomAD
rs768315652 CA6079763	589	N>D		No	ClinGen ExAC gnomAD
CA381170278 rs140016055	589	N>T		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1222835 rs368545367 CA6079761	590	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC gnomAD
rs368545367 CA381170259	590	R>G		No	ClinGen ESP ExAC gnomAD
CA223898669 rs115942812	590	R>H		No	ClinGen 1000Genomes gnomAD
CA381170088 rs1352390824	591	I>L		No	ClinGen TOPMed
rs1317576278 CA381170077	591	I>N		No	ClinGen gnomAD
rs1006964717 CA223898666	593	R>K		No	ClinGen TOPMed gnomAD
rs1220310363 CA381169990	595	P>S		No	ClinGen gnomAD
CA6079734 rs749501772	596	N>K		No	ClinGen ExAC gnomAD
rs150622626 CA223898664	596	N>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1385029336 CA381169952	597	K>E		No	ClinGen gnomAD
rs780307351 CA6079733	598	F>C		No	ClinGen ExAC gnomAD
CA6079732 rs755874000	599	F>S		No	ClinGen ExAC gnomAD
CA381169839 rs1198711566	603	T>A		No	ClinGen gnomAD
CA6079728 rs751456350	604	V>A		No	ClinGen ExAC
rs757162212 CA6079729	604	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1254930380 CA381169746	606	I>T		No	ClinGen gnomAD
rs1194416311 CA381169727	607	G>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs769869077 CA6079697	611	A>V		No	ClinGen ExAC gnomAD
rs746099017 CA6079696	612	P>L		No	ClinGen ExAC TOPMed gnomAD
CA381169448 rs1419658107	612	P>S		No	ClinGen gnomAD
TCGA novel	614	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6079694 rs767068621	616	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1368180368 CA381169283	620	I>F		No	ClinGen gnomAD
CA381169187 rs1374947591	625	T>I		No	ClinGen TOPMed
TCGA novel	626	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA381169162 rs1460650384	627	I>L		No	ClinGen TOPMed
CA381169149 rs369361532	627	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs753510042 CA6079687	627	I>N		No	ClinGen ExAC TOPMed gnomAD
rs985430793 CA223898274	628	G>E		No	ClinGen TOPMed gnomAD
rs201591132 CA6079685	628	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1451559399 CA381169131	629	D>A		No	ClinGen TOPMed
RCV000722246 rs1451559399 CA381169129	629	D>G		No	ClinGen ClinVar TOPMed dbSNP
rs137986928 CA6079684	629	D>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6079682 rs763385602	632	N>S		No	ClinGen ExAC TOPMed gnomAD
CA381169081 rs763385602	632	N>T		No	ClinGen ExAC TOPMed gnomAD
CA6079681 rs776043985	634	D>E		No	ClinGen ExAC gnomAD
CA381169017 rs1399909644	634	D>H		No	ClinGen gnomAD
rs368385152 COSM429557 CA6079680	635	P>L	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1161629133 CA599803599	637	V>A		No	ClinGen gnomAD
CA223898256 rs898147117	637	V>M		No	ClinGen TOPMed gnomAD
CA6079678 rs776881451	638	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1592408994 CA381168925	639	D>A		No	ClinGen Ensembl
CA6079676 rs141267088	640	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs777649758 CA6079675	641	L>V		No	ClinGen ExAC gnomAD
CA6079668 rs750081936	650	R>P		No	ClinGen ExAC TOPMed gnomAD
CA6079667 rs750081936	650	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA381168581 rs1274186900	654	A>V		No	ClinGen gnomAD
CA381168355 rs1407678736	657	V>A		No	ClinGen TOPMed
rs1174374786 CA381168517	657	V>L		No	ClinGen TOPMed
CA381168309 rs1425743014	661	A>T		No	ClinGen TOPMed
rs1344979389 CA381168298	661	A>V		No	ClinGen gnomAD
TCGA novel	662	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA381168274 rs1301319669	663	L>V		No	ClinGen TOPMed gnomAD
rs773633182 CA6079659	664	S>F		No	ClinGen ExAC gnomAD
rs119103256 CA381168208	666	Q>*		No	ClinGen TOPMed
CA381168191 rs1337679288	667	I>F		No	ClinGen TOPMed
rs1241055622 CA381168163	668	S>F		No	ClinGen TOPMed
rs113806080 CA6079658	670	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs768434441 CA6079656	671	G>C		No	ClinGen ExAC gnomAD
rs1458749530 CA381168113	672	T>I		No	ClinGen TOPMed gnomAD
CA381168116 rs1458749530	672	T>N		No	ClinGen TOPMed gnomAD
rs1212476417 CA381168109	673	E>K		No	ClinGen gnomAD
CA381168082 rs1413827545	674	A>V		No	ClinGen TOPMed gnomAD
rs2230309 CA223897851	676	G>S		No	ClinGen Ensembl
rs928891607 CA381168047	677	T>I		No	ClinGen TOPMed gnomAD
CA223897849 rs928891607	677	T>S		No	ClinGen TOPMed gnomAD
CA381168018 rs1176352993	680	M>L		No	ClinGen gnomAD
rs1376064042 CA381167994	682	F>L		No	ClinGen TOPMed
CA6079652 rs745509448	682	F>L		No	ClinGen ExAC TOPMed
rs1326721251 CA381167998	682	F>Y		No	ClinGen TOPMed
CA381167986 rs780873398 CA6079651	683	M>I		No	ClinGen ExAC gnomAD
CA381167990 rs1448146849	683	M>T		No	ClinGen TOPMed gnomAD
CA6079650 rs758730269	684	L>P		No	ClinGen ExAC gnomAD
rs765656412 CA6079648	685	N>S		No	ClinGen ExAC TOPMed gnomAD
CA381167943 rs1324009345	689	T>I		No	ClinGen gnomAD
CA381167935 rs1308677081	690	I>F		No	ClinGen gnomAD
CA223897803 rs140349323	690	I>T		No	ClinGen ESP TOPMed gnomAD
CA381167937 rs1308677081	690	I>V		No	ClinGen gnomAD
CA381167899 rs1462145774	692	T>N		No	ClinGen TOPMed
CA381167891 rs1375876566	693	M>L		No	ClinGen TOPMed gnomAD
rs200688234 CA381167884	693	M>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA381167894 rs1375876566	693	M>V		No	ClinGen TOPMed gnomAD
CA381167867 rs1446934873	694	D>G		No	ClinGen gnomAD
CA6079641 rs773962878	698	V>M		No	ClinGen ExAC gnomAD
rs768505332 CA6079640	699	E>A		No	ClinGen ExAC TOPMed gnomAD
rs775556000 CA6079638	702	E>K		No	ClinGen ExAC TOPMed gnomAD
CA6079639 rs775556000	702	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA223897752 rs915786151	706	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs770519283 CA6079634	706	E>V		No	ClinGen ExAC TOPMed gnomAD
CA381167646 rs1285381507	707	E>G		No	ClinGen gnomAD
CA6079632 rs779080119	711	I>T		No	ClinGen ExAC gnomAD
CA381167575 rs1323673131	712	F>S		No	ClinGen TOPMed
CA6079630 rs754283023	713	G>A		No	ClinGen ExAC gnomAD
CA6079631 rs755433896	713	G>C		No	ClinGen ExAC
CA6079628 rs756722295	715	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs750483467 RCV000175190 CA240892	716	V>G		No	ClinGen ClinVar ExAC dbSNP
rs767722082 CA6079627	717	E>G		No	ClinGen ExAC
rs762063648 CA6079626	718	D>V		No	ClinGen ExAC gnomAD
CA381167535 rs1250987209	719	V>M		No	ClinGen gnomAD
rs1345296605 CA381167528	720	D>N		No	ClinGen gnomAD
TCGA novel	721	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA381167508 RCV000493570 rs1131691265	722	L>R		No	ClinGen ClinVar Ensembl dbSNP
CA381167504 rs1163587055	723	D>A		No	ClinGen gnomAD
CA381167502 rs1163587055	723	D>V		No	ClinGen gnomAD
CA381167495 rs1565533090	724	Q>R		No	ClinGen Ensembl
rs1474046583 CA381167487	725	R>I		No	ClinGen TOPMed gnomAD
rs1416120916 CA381167485	725	R>S		No	ClinGen gnomAD
rs1190587944 CA381167479	726	G>E		No	ClinGen gnomAD
rs1592405839 CA381165964	727	Y>D		No	ClinGen Ensembl
rs763116413 CA6079606	729	A>V		No	ClinGen ExAC gnomAD
CA381165891 rs1299991104	730	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	730	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6079604 rs765027559	733	Y>H		No	ClinGen ExAC gnomAD
CA223894986 rs1019588921	734	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs559363120 CA6079601	735	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs760277933 CA381165735	735	R>L		No	ClinGen ExAC TOPMed gnomAD
CA223894967 rs887165619	736	I>V		No	ClinGen Ensembl
TCGA novel	738	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA223894962 rs370144967	739	L>P		No	ClinGen ESP
CA223894946 rs931468914	740	R>Q		No	ClinGen TOPMed
COSM3791774 CA223894960 rs1048544068	740	R>W	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs747771739 CA6079597	741	Q>*		No	ClinGen ExAC gnomAD
rs1592405710 CA381165618	742	V>G		No	ClinGen Ensembl
CA381165631 rs1396989158	742	V>I		No	ClinGen gnomAD
rs775934991 CA6079596	743	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1194473443 CA381165612	743	I>V		No	ClinGen gnomAD
rs1248134647 CA381165547	745	Q>*		No	ClinGen gnomAD
rs781776953 CA6079593	749	G>D		No	ClinGen ExAC gnomAD
rs1232022501 CA381165377	750	F>C		No	ClinGen gnomAD
rs571207448 CA381165332	752	S>C		No	ClinGen 1000Genomes TOPMed gnomAD
CA6079590 rs571207448	752	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA TOPMed gnomAD
CA381165308 rs1174505595	753	P>R		No	ClinGen TOPMed
rs1592405589 CA381165298	754	K>Q		No	ClinGen Ensembl
CA381165291 rs1238942550	754	K>R		No	ClinGen TOPMed gnomAD
rs1592405564 CA381165253	756	P>A		No	ClinGen Ensembl
CA6079588 rs777736319	756	P>H		No	ClinGen ExAC TOPMed gnomAD
rs777736319 CA381165244	756	P>L		No	ClinGen ExAC TOPMed gnomAD
CA381165214 rs1312751218	757	D>E		No	ClinGen gnomAD
CA381165229 rs752919943	757	D>N		No	ClinGen ExAC TOPMed gnomAD
rs752919943 CA6079586	757	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1396946363 CA381165176	759	F>L		No	ClinGen gnomAD
rs201161067 CA6079583	760	K>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	760	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs149985911 CA381165138	761	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs149985911 CA6079582	761	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA6079578 rs761526819	764	N>S		No	ClinGen ExAC TOPMed gnomAD
rs774209033 CA6079577	765	M>R		No	ClinGen ExAC
CA6079576 rs529442663	767	M>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	768	H>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746276500 CA6079575	769	H>N		No	ClinGen ExAC
rs771421657 CA6079573	769	H>P		No	ClinGen ExAC TOPMed gnomAD
rs771421657 CA6079574	769	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1565531372 CA381164893 RCV000722764	770	D>A		No	ClinGen ClinVar Ensembl dbSNP
rs150911354 CA381164857	771	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA381164670 rs1439825254	773	K>T		No	ClinGen TOPMed
CA6079548 rs200164932	774	V>D		No	ClinGen 1000Genomes ExAC gnomAD
rs751807745 CA381164563	776	A>S		No	ClinGen ExAC TOPMed gnomAD
rs751807745 CA6079547	776	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA223894767 rs1014177089	779	E>K		No	ClinGen TOPMed gnomAD
rs755923861 CA6079546	782	I>T		No	ClinGen ExAC gnomAD
CA381164167 rs1326266879	790	A>D		No	ClinGen TOPMed
CA6079544 rs781031847	790	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6079542 rs763712129	793	K>E		No	ClinGen ExAC gnomAD
CA6079541 rs763712129	793	K>Q		No	ClinGen ExAC gnomAD
rs762625291 CA6079540	793	K>R		No	ClinGen ExAC gnomAD
CA6079523 rs377401213	799	T>R		No	ClinGen ExAC gnomAD
rs1476157353 CA381163835	800	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs767879221 CA6079518	801	M>I		No	ClinGen ExAC gnomAD
rs1434074764 CA381163800	801	M>L		No	ClinGen gnomAD
rs750701415 CA6079519	801	M>T		No	ClinGen ExAC gnomAD
CA381163738 rs1592404630	802	V>G		No	ClinGen Ensembl
CA6079516 COSM3398021 rs372295369	804	R>Q	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA6079517 rs762305749	804	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs373305106 CA223894674	806	I>T		No	ClinGen Ensembl
CA6079513 rs775670598	807	A>T		No	ClinGen ExAC gnomAD
rs983130582 CA223894667	809	S>A		No	ClinGen Ensembl
rs1485657971 CA381163460	811	K>N		No	ClinGen gnomAD
CA381163452 rs1396027876	812	F>L		No	ClinGen TOPMed
CA381163448 rs1278265115	812	F>Y		No	ClinGen gnomAD
rs1592404531 CA381163397	814	S>G		No	ClinGen Ensembl
CA223894660 rs756371519	814	S>R		No	ClinGen Ensembl
rs143177272 COSM1355759 CA381163307	816	R>S	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs886048460 CA381163277	817	T>S		No	ClinGen gnomAD
CA381163263 rs1375221207	818	I>V		No	ClinGen gnomAD
rs746928719 CA6079509	819	A>D		No	ClinGen ExAC gnomAD
CA381163143 rs537438002	820	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6079507 rs757950557	821	Y>C		No	ClinGen ExAC gnomAD
CA6079506 rs747567834	822	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1156441426 CA381163072	823	R>Q		No	ClinGen gnomAD
rs200464333 CA6079504	823	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA381162964 rs1402126215	826	W>*		No	ClinGen gnomAD
rs753530504 CA6079503	826	W>C		No	ClinGen ExAC gnomAD
rs969424691 CA223894638	827	G>D		No	ClinGen Ensembl
rs767857001 CA6079502	828	V>M		No	ClinGen ExAC gnomAD
rs1475088481 CA381162853	829	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1262087146 CA381162794	830	P>R		No	ClinGen TOPMed
CA6079500 rs752034635	832	R>H		No	ClinGen ExAC gnomAD
rs1592404359 CA381162707	833	Q>K		No	ClinGen Ensembl
rs200118962 CA6079499	834	R>C		No	ClinGen ExAC TOPMed gnomAD
rs200118962 CA381162636	834	R>G		No	ClinGen ExAC TOPMed gnomAD
rs548125114 CA6079498	834	R>H		No	ClinGen ExAC gnomAD
CA381162544 rs1296372306	837	A>D		No	ClinGen gnomAD
CA6079496 rs765365572	838	P>L		No	ClinGen ExAC gnomAD
rs775376390 CA6079497	838	P>S		No	ClinGen ExAC gnomAD
CA6079494 rs147307168	839	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs896668027 CA223894622	840	E>K		No	ClinGen Ensembl

1 associated diseases with P11217

[MIM: 232600]: Glycogen storage disease 5 (GSD5)

A metabolic disorder resulting in myopathy characterized by exercise intolerance, cramps, muscle weakness and recurrent myoglobinuria. {ECO:0000269|PubMed:10382911, ECO:0000269|PubMed:10382912, ECO:0000269|PubMed:10417800, ECO:0000269|PubMed:10590419, ECO:0000269|PubMed:10681080, ECO:0000269|PubMed:10714589, ECO:0000269|PubMed:10899452, ECO:0000269|PubMed:11706962, ECO:0000269|PubMed:12031624, ECO:0000269|PubMed:7603523, ECO:0000269|PubMed:8316268, ECO:0000269|PubMed:8535454, ECO:0000269|PubMed:9506549}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A metabolic disorder resulting in myopathy characterized by exercise intolerance, cramps, muscle weakness and recurrent myoglobinuria. {ECO:0000269|PubMed:10382911, ECO:0000269|PubMed:10382912, ECO:0000269|PubMed:10417800, ECO:0000269|PubMed:10590419, ECO:0000269|PubMed:10681080, ECO:0000269|PubMed:10714589, ECO:0000269|PubMed:10899452, ECO:0000269|PubMed:11706962, ECO:0000269|PubMed:12031624, ECO:0000269|PubMed:7603523, ECO:0000269|PubMed:8316268, ECO:0000269|PubMed:8535454, ECO:0000269|PubMed:9506549}. Note=The disease is caused by variants affecting the gene represented in this entry.

No regional properties for P11217

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for P11217

Functions

		Description
EC Number	2.4.1.1	Hexosyltransferases
Subcellular Localization
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
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.
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.

5 GO annotations of molecular function

Name	Definition
glycogen phosphorylase activity	Catalysis of the reaction: glycogen + phosphate = maltodextrin + alpha-D-glucose 1-phosphate.
linear malto-oligosaccharide phosphorylase activity	Catalysis of the reaction: hydrogenphosphate + a linear malto-oligosaccharide = alpha-D-glucose 1-phosphate + a linear malto-oligosaccharide.
nucleotide binding	Binding to a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose.
pyridoxal phosphate binding	Binding to pyridoxal 5' phosphate, 3-hydroxy-5-(hydroxymethyl)-2-methyl4-pyridine carboxaldehyde 5' phosphate, the biologically active form of vitamin B6.
SHG alpha-glucan phosphorylase activity	Catalysis of the reaction: hydrogenphosphate + a plant soluble heteroglycan = alpha-D-glucose 1-phosphate + a plant soluble heteroglycan.

2 GO annotations of biological process

Name	Definition
glycogen catabolic process	The chemical reactions and pathways resulting in the breakdown of glycogen, a polydisperse, highly branched glucan composed of chains of D-glucose residues.
glycogen metabolic process	The chemical reactions and pathways involving glycogen, a polydisperse, highly branched glucan composed of chains of D-glucose residues in alpha-(1->4) glycosidic linkage, joined together by alpha-(1->6) glycosidic linkages.

14 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P06738	GPH1	Glycogen phosphorylase	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
Q0VCM4	PYGL	Glycogen phosphorylase, liver form	Bos taurus (Bovine)	PR
P06737	PYGL	Glycogen phosphorylase, liver form	Homo sapiens (Human)	PR
P11216	PYGB	Glycogen phosphorylase, brain form	Homo sapiens (Human)	PR
Q8CI94	Pygb	Glycogen phosphorylase, brain form	Mus musculus (Mouse)	PR
Q9ET01	Pygl	Glycogen phosphorylase, liver form	Mus musculus (Mouse)	PR
Q9WUB3	Pygm	Glycogen phosphorylase, muscle form	Mus musculus (Mouse)	PR
P04045		Alpha-1,4 glucan phosphorylase L-1 isozyme, chloroplastic/amyloplastic	Solanum tuberosum (Potato)	PR
P32811		Alpha-glucan phosphorylase, H isozyme	Solanum tuberosum (Potato)	PR
P53535	STP-1	Alpha-1,4 glucan phosphorylase L-2 isozyme, chloroplastic/amyloplastic	Solanum tuberosum (Potato)	PR
P09811	Pygl	Glycogen phosphorylase, liver form	Rattus norvegicus (Rat)	PR
P09812	Pygm	Glycogen phosphorylase, muscle form	Rattus norvegicus (Rat)	PR
Q9SD76	PHS2	Alpha-glucan phosphorylase 2, cytosolic	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9LIB2	PHS1	Alpha-glucan phosphorylase 1	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MSRPLSDQEK	RKQISVRGLA	GVENVTELKK	NFNRHLHFTL	VKDRNVATPR	DYYFALAHTV
70	80	90	100	110	120
RDHLVGRWIR	TQQHYYEKDP	KRIYYLSLEF	YMGRTLQNTM	VNLALENACD	EATYQLGLDM
130	140	150	160	170	180
EELEEIEEDA	GLGNGGLGRL	AACFLDSMAT	LGLAAYGYGI	RYEFGIFNQK	ISGGWQMEEA
190	200	210	220	230	240
DDWLRYGNPW	EKARPEFTLP	VHFYGHVEHT	SQGAKWVDTQ	VVLAMPYDTP	VPGYRNNVVN
250	260	270	280	290	300
TMRLWSAKAP	NDFNLKDFNV	GGYIQAVLDR	NLAENISRVL	YPNDNFFEGK	ELRLKQEYFV
310	320	330	340	350	360
VAATLQDIIR	RFKSSKFGCR	DPVRTNFDAF	PDKVAIQLND	THPSLAIPEL	MRILVDLERM
370	380	390	400	410	420
DWDKAWDVTV	RTCAYTNHTV	LPEALERWPV	HLLETLLPRH	LQIIYEINQR	FLNRVAAAFP
430	440	450	460	470	480
GDVDRLRRMS	LVEEGAVKRI	NMAHLCIAGS	HAVNGVARIH	SEILKKTIFK	DFYELEPHKF
490	500	510	520	530	540
QNKTNGITPR	RWLVLCNPGL	AEVIAERIGE	DFISDLDQLR	KLLSFVDDEA	FIRDVAKVKQ
550	560	570	580	590	600
ENKLKFAAYL	EREYKVHINP	NSLFDIQVKR	IHEYKRQLLN	CLHVITLYNR	IKREPNKFFV
610	620	630	640	650	660
PRTVMIGGKA	APGYHMAKMI	IRLVTAIGDV	VNHDPAVGDR	LRVIFLENYR	VSLAEKVIPA
670	680	690	700	710	720
ADLSEQISTA	GTEASGTGNM	KFMLNGALTI	GTMDGANVEM	AEEAGEENFF	IFGMRVEDVD
730	740	750	760	770	780
KLDQRGYNAQ	EYYDRIPELR	QVIEQLSSGF	FSPKQPDLFK	DIVNMLMHHD	RFKVFADYED
790	800	810	820	830	840
YIKCQEKVSA	LYKNPREWTR	MVIRNIATSG	KFSSDRTIAQ	YAREIWGVEP	SRQRLPAPDE

AI