AiPD: Autoinhibited Protein Database

Q86UP2

Gene name	KTN1 (CG1, KIAA0004)
Protein name	Kinectin
Names	CG-1 antigen, Kinesin receptor
Species	Homo sapiens (Human)
KEGG Pathway	hsa:3895
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

39-110 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

39-110 (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

1 structures for Q86UP2

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q86UP2-F1	Predicted				AlphaFoldDB

1048 variants for Q86UP2

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1418022769 CA390041064	3	F>L		No	ClinGen TOPMed
rs1298161259 CA390041444	6	S>P		No	ClinGen gnomAD
TCGA novel	7	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766756601 CA7197688	9	F>L		No	ClinGen ExAC gnomAD
rs368791295 CA7197689	10	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	13	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755516664 CA7197690	14	P>L		No	ClinGen ExAC TOPMed gnomAD
rs781130073 CA7197691	16	I>V		No	ClinGen ExAC TOPMed gnomAD
CA390041571 rs1489123844	18	I>T		No	ClinGen TOPMed
CA260648172 rs749460457	19	T>A		No	ClinGen Ensembl
rs1314731247 CA390041579	20	V>I		No	ClinGen TOPMed gnomAD
rs756269724 CA7197693	22	F>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1208376934 CA390041616	25	F>Y		No	ClinGen TOPMed gnomAD
CA390041636 rs1255234293	26	W>C		No	ClinGen gnomAD
rs1437999487 CA390041706	32	T>A		No	ClinGen gnomAD
CA390041718 rs1401026177	33	L>S		No	ClinGen TOPMed
CA7197698 rs778854633	34	Y>C		No	ClinGen ExAC gnomAD
CA390041745 rs1230644719	35	D>G		No	ClinGen gnomAD
CA260648173 rs199516020	39	A>E		No	ClinGen 1000Genomes gnomAD
CA390041791 rs1438589675	39	A>T		No	ClinGen gnomAD
rs199516020 CA390041795	39	A>V		No	ClinGen 1000Genomes gnomAD
CA390041850 rs1396279678	44	E>G		No	ClinGen gnomAD
rs1362793398 CA390041844	44	E>K		No	ClinGen TOPMed
CA7197699 rs745786276	48	I>V		No	ClinGen ExAC TOPMed gnomAD
rs140896184 CA7197700	49	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA390041909 rs1401967945	49	P>L		No	ClinGen gnomAD
rs774836687 CA7197701	50	T>A		No	ClinGen ExAC gnomAD
rs1360250388 CA390041918	50	T>S		No	ClinGen TOPMed
rs760268093 CA7197702	51	K>E		No	ClinGen ExAC gnomAD
rs895585373 CA260648175	53	D>G		No	ClinGen TOPMed gnomAD
CA260648174 rs866175932	53	D>N		No	ClinGen Ensembl
rs1349893836 CA390041960	54	K>E		No	ClinGen gnomAD
rs768181757 CA7197703	55	K>N		No	ClinGen ExAC gnomAD
CA390041978 rs1232018837	55	K>R		No	ClinGen gnomAD
CA7197705 rs563314795	57	A>T		No	ClinGen ExAC gnomAD
TCGA novel	59	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA260648176 rs918275201	60	K>R		No	ClinGen TOPMed
rs1193868451 CA390042056	61	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs150131722 CA7197706	61	K>R		No	ClinGen ESP ExAC gnomAD
TCGA novel	63	K>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA260648177 rs753148766	63	K>E		No	ClinGen Ensembl
rs1013999939 CA390042077	63	K>R		No	ClinGen gnomAD
rs1013999939 CA260648178	63	K>T		No	ClinGen gnomAD
rs147826949 CA7197708	64	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA390042117 rs1594833316	66	E>A		No	ClinGen Ensembl
CA7197709 rs768119618	67	I>V		No	ClinGen ExAC gnomAD
CA7197710 rs370873837	69	N>D		No	ClinGen ESP ExAC gnomAD
CA7197711 rs369430795	70	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1485532796 CA390042173	71	N>Y		No	ClinGen gnomAD
rs778012401 CA7197712	72	L>F		No	ClinGen ExAC gnomAD
CA7197713 rs778012401	72	L>V		No	ClinGen ExAC gnomAD
rs757619144 CA7197714	73	H>R		No	ClinGen ExAC gnomAD
rs778557180 CA7197715	74	E>A		No	ClinGen ExAC gnomAD
CA260648179 rs377122975	76	D>E		No	ClinGen ESP ExAC gnomAD
rs779998905 CA7197718	76	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA7197720 rs768101835	78	E>Q		No	ClinGen ExAC gnomAD
rs1300563939 CA390042272	79	S>G		No	ClinGen gnomAD
rs780046081 CA260648180	80	V>E		No	ClinGen Ensembl
CA390042284 rs1326790470	80	V>I		No	ClinGen TOPMed gnomAD
CA390042286 rs1326790470	80	V>L		No	ClinGen TOPMed gnomAD
CA390042304 rs1192477049	82	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs776126009 CA390042307	82	R>L		No	ClinGen ExAC TOPMed gnomAD
CA7197721 rs776126009	82	R>P		No	ClinGen ExAC TOPMed gnomAD
CA7197722 rs776126009	82	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1249407277 CA390042318	83	D>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1293966717 CA390042325	84	F>S		No	ClinGen TOPMed
CA7197724 rs576406234	84	F>V		No	ClinGen ExAC gnomAD
CA7197725 rs963859175	85	K>E		No	ClinGen TOPMed gnomAD
rs756620040 CA260648181	87	S>A		No	ClinGen TOPMed gnomAD
TCGA novel	87	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1451505769 CA390042382	89	A>T		No	ClinGen gnomAD
rs1267351131 CA390042414	92	V>I		No	ClinGen gnomAD
rs767804653 CA7197729	93	E>D		No	ClinGen ExAC
rs1195712658 CA390042437	94	D>G		No	ClinGen gnomAD
CA390042456 rs1466920181	95	D>E		No	ClinGen TOPMed
rs369090786 CA7197730	95	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA7197731 rs528698345	98	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA7197732 rs764264429	99	P>A		No	ClinGen ExAC gnomAD
CA7197733 rs754027861	99	P>L		No	ClinGen ExAC gnomAD
CA390042488 rs764264429	99	P>S		No	ClinGen ExAC gnomAD
rs1192217388 CA390042503	100	V>A		No	ClinGen TOPMed
rs1456505684 CA390042499	100	V>F		No	ClinGen gnomAD
rs1424108407 CA390042512	101	P>L		No	ClinGen TOPMed
CA390042536 rs1385495949	103	N>S		No	ClinGen gnomAD
CA260648185 rs138285981	104	V>G		No	ClinGen ESP TOPMed gnomAD
rs1181627572 CA390042543	104	V>I		No	ClinGen TOPMed
CA7197736 rs750637245	105	V>I		No	ClinGen ExAC gnomAD
CA7197737 rs758159956	106	E>K		No	ClinGen ExAC TOPMed gnomAD
CA390042576 rs1332030116	107	T>N		No	ClinGen gnomAD
CA7197738 rs779730040	107	T>S		No	ClinGen ExAC gnomAD
rs1243355213 CA390042580	108	S>P		No	ClinGen gnomAD
rs1566707847 CA390042591	109	S>G		No	ClinGen Ensembl
rs373014174 CA7197740	110	S>T		No	ClinGen ESP ExAC gnomAD
rs780670942 CA7197741	111	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1261444785 CA390042613	111	V>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA390042622 rs1188904096	112	R>K		No	ClinGen gnomAD
CA390042637 rs1227163797	113	E>G		No	ClinGen TOPMed
rs866676755 CA260648187	114	R>K		No	ClinGen Ensembl
CA7197743 rs747707789	115	K>E		No	ClinGen ExAC gnomAD
CA260648188 rs934272720	116	K>M		No	ClinGen TOPMed gnomAD
TCGA novel	117	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs547135619 CA7197744	117	K>T		No	ClinGen 1000Genomes ExAC gnomAD
CA390042692 rs1364477405	118	E>K		No	ClinGen gnomAD
CA390042713 rs1296306232	119	K>N		No	ClinGen gnomAD
rs1455243672 CA390042711	119	K>R		No	ClinGen gnomAD
rs1359634684 CA390042716	120	K>E		No	ClinGen gnomAD
rs772880558 CA7197745	122	K>Q		No	ClinGen ExAC gnomAD
rs748916844 CA7197746	125	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA390042764 rs1376450264	127	E>Q		No	ClinGen gnomAD
rs1594835236 CA390042766	127	E>V		No	ClinGen Ensembl
TCGA novel	128	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1307036688 CA390042771	128	Q>K		No	ClinGen gnomAD
CA260648189 rs1042339266	128	Q>R		No	ClinGen TOPMed gnomAD
CA7197748 rs775785285	130	I>V		No	ClinGen ExAC
CA390042794 rs1331505719	131	K>R		No	ClinGen TOPMed
CA7197749 rs761248188	134	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1566708319 CA390042814	134	D>N		No	ClinGen Ensembl
CA7197751 rs776818967	135	A>T	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs761941156 CA7197752	135	A>V		No	ClinGen ExAC TOPMed gnomAD
rs941305019 CA260648191	136	S>T		No	ClinGen Ensembl
rs765250590 CA7197753	137	K>E		No	ClinGen ExAC gnomAD
rs750597148 CA7197754	137	K>N		No	ClinGen ExAC TOPMed gnomAD
CA390042841 rs1251294722	138	I>T		No	ClinGen gnomAD
rs758556672 CA7197755	139	P>S		No	ClinGen ExAC gnomAD
CA390042851 rs1156771396	140	G>D		No	ClinGen gnomAD
rs894604893 CA260648192	141	K>Q		No	ClinGen TOPMed
rs1175232948 CA390042881	143	V>A		No	ClinGen gnomAD
CA7197758 rs751416270	143	V>I		No	ClinGen ExAC TOPMed gnomAD
CA390042895 rs1594835732	144	E>D		No	ClinGen Ensembl
rs754889831 CA390042898	145	P>A		No	ClinGen ExAC gnomAD
rs754889831 CA7197759	145	P>T		No	ClinGen ExAC gnomAD
CA7197761 rs752664301	149	T>A		No	ClinGen ExAC gnomAD
rs1374862491 CA390042947	150	K>E		No	ClinGen gnomAD
CA390042973 rs1444021675	151	Q>H		No	ClinGen gnomAD
CA7197762 rs755601927	152	P>S		No	ClinGen ExAC gnomAD
rs1566708764 CA390042983	153	T>P		No	ClinGen Ensembl
CA390042987 rs1566708764	153	T>S		No	ClinGen Ensembl
CA260648194 rs1012937971	154	P>L		No	ClinGen TOPMed
rs529619703 CA7197766	161	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs529619703 CA7197767	161	S>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs868584177 CA260648195	165	P>T		No	ClinGen Ensembl
rs777224558 CA7197769	166	G>E		No	ClinGen ExAC gnomAD
CA7197771 rs762419392	169	K>*		No	ClinGen ExAC gnomAD
CA7197773 rs769849538	169	K>R		No	ClinGen ExAC gnomAD
CA7197772 rs769849538	169	K>T		No	ClinGen ExAC gnomAD
CA390043192 rs1357275532	171	K>E		No	ClinGen TOPMed
CA7197774 rs763225722	171	K>R		No	ClinGen ExAC TOPMed gnomAD
rs766562759	174	S>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA260601114 rs919062692	175	D>G		No	ClinGen TOPMed
rs1413757221 CA390043235	175	D>N		No	ClinGen gnomAD
rs150866311 CA260601118	176	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs532089563 CA7197800	178	D>N		No	ClinGen 1000Genomes ExAC gnomAD
rs139696630 CA7197801	178	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA7197802 rs763976718	180	K>N		No	ClinGen ExAC TOPMed gnomAD
rs753844038 CA7197803	181	V>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	183	T>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA260601157 CA260601150 rs374076882	185	M>I		No	ClinGen ESP TOPMed gnomAD
rs200386827 CA260601144	185	M>V		No	ClinGen Ensembl
COSM141433 CA260601165 rs375784009	187	P>S	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA7197807 rs367927063	190	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA7197808 rs781683689	191	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs1251534386 CA389817019	191	Q>R		No	ClinGen TOPMed
CA389817029 rs1160902548	192	E>D		No	ClinGen gnomAD
rs1475992529 CA389817023	192	E>K		No	ClinGen gnomAD
rs904007199 CA260601247	193	A>S		No	ClinGen TOPMed
CA7197809 rs201889765	194	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs778103313 COSM143545 CA7197811	195	P>L	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs755987069 CA260601269	196	L>V		No	ClinGen Ensembl
rs770940202 CA7197813	197	H>P		No	ClinGen ExAC gnomAD
rs770940202 CA389817055	197	H>R		No	ClinGen ExAC gnomAD
rs1398613364 CA389817054	197	H>Y		No	ClinGen gnomAD
rs774419235 CA7197814	198	Q>*		No	ClinGen ExAC gnomAD
CA7197815 rs746076704	198	Q>R		No	ClinGen ExAC gnomAD
rs772329849 CA7197816	200	T>P		No	ClinGen ExAC gnomAD
rs565740217 CA7197817	202	Q>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1303414401 CA389817097	203	E>G		No	ClinGen TOPMed
CA7197820 rs776371679	207	G>R		No	ClinGen ExAC gnomAD
CA389817125 rs1442669139	207	G>V		No	ClinGen TOPMed
rs1368275884 CA389817130	208	K>R		No	ClinGen TOPMed
CA260601350 rs377196683	211	A>G		No	ClinGen ESP gnomAD
rs1351226965 CA389817151	211	A>P		No	ClinGen gnomAD
CA389817160 rs1443748711	212	S>L		No	ClinGen gnomAD
CA7197824 rs750015260	216	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA7197825 rs758105852	218	T>A		No	ClinGen ExAC TOPMed gnomAD
rs766176819 CA7197826	219	E>G		No	ClinGen ExAC gnomAD
CA7197827 rs751259485	221	V>I		No	ClinGen ExAC gnomAD
CA7197846 rs375347305	222	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1198551363 CA389817287	223	V>A		No	ClinGen gnomAD
rs192960670 CA7197848	223	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1197127120 CA389817295	224	D>G		No	ClinGen gnomAD
CA260602432 rs185227628	224	D>N		No	ClinGen 1000Genomes TOPMed gnomAD
rs1377456014 CA389817302	225	E>K		No	ClinGen gnomAD
VAR_035931	226	P>R	a breast cancer sample; somatic mutation [UniProt]	No	UniProt
rs757729070 CA7197849	228	I>T		No	ClinGen ExAC gnomAD
CA7197850 rs779352256	229	H>D		No	ClinGen ExAC TOPMed gnomAD
rs750949861 CA7197851	229	H>R		No	ClinGen ExAC TOPMed gnomAD
CA260602445 rs868290228	230	A>T		No	ClinGen Ensembl
CA389817375 rs1465232456	231	T>S		No	ClinGen gnomAD
rs137964512 CA7197852 RCV000948934	232	T>A		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs747190317 CA7197854	234	I>T		No	ClinGen ExAC gnomAD
CA389817401 rs1379344315	234	I>V		No	ClinGen TOPMed
CA389817413 rs1322599935	235	P>S		No	ClinGen gnomAD
CA7197855 rs768977763	238	D>G		No	ClinGen ExAC TOPMed gnomAD
CA389817448 rs1329520973	238	D>H		No	ClinGen TOPMed
CA7197856 rs780829761	239	N>S		No	ClinGen ExAC TOPMed gnomAD
CA7197857 rs747999576	243	S>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA389817506 rs1233291282	243	S>I		No	ClinGen gnomAD
rs1233291282 CA389817508	243	S>N		No	ClinGen gnomAD
CA7197858 rs769746880	244	P>L		No	ClinGen ExAC TOPMed gnomAD
CA7197859 rs773238209	245	V>L		No	ClinGen ExAC gnomAD
CA7197860 rs762998956	246	V>I		No	ClinGen ExAC gnomAD
rs1261223576 CA389817591	250	E>D		No	ClinGen gnomAD
rs369421121 CA7197862	250	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA7197863 rs773979649	251	V>I		No	ClinGen ExAC TOPMed gnomAD
CA389817611 rs1165515316	252	I>T		No	ClinGen gnomAD
rs1370305171 CA389817638	254	L>F		No	ClinGen gnomAD
CA389817654 rs1177601558	256	K>E		No	ClinGen TOPMed
rs372749909 CA7197864	256	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs767237982 CA7197865	257	P>A		No	ClinGen ExAC gnomAD
rs200175290 CA7197866	257	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA389817682 rs762115849	258	D>E		No	ClinGen ExAC gnomAD
rs765598195 CA7197868	260	V>E		No	ClinGen ExAC gnomAD
CA16040386 rs1339380819	263	I>F		No	ClinGen gnomAD
rs1208001469 CA389817738	263	I>S		No	ClinGen TOPMed
CA7197869 rs146224815	264	Q>H		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA389817770 rs1319454013	266	S>P		No	ClinGen gnomAD
rs1264969375 CA389817779	267	G>R		No	ClinGen TOPMed
CA7197872 rs139072949	267	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA7197873 rs755126392	268	T>A		No	ClinGen ExAC gnomAD
rs763897315 CA7197874	268	T>I		No	ClinGen ExAC TOPMed gnomAD
rs763897315 CA7197875	268	T>S		No	ClinGen ExAC TOPMed gnomAD
CA389817819 rs1332048680	270	K>N		No	ClinGen TOPMed
rs1261512916 CA389817817	270	K>R		No	ClinGen gnomAD
rs1385619989 CA389817845	272	K>N		No	ClinGen TOPMed
CA389817854 rs1390600822	273	T>I		No	ClinGen TOPMed
rs376987068 CA7197878	274	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1358062463 CA389817864	274	E>V		No	ClinGen TOPMed
CA260602636 rs149871368	277	K>R		No	ClinGen ESP TOPMed
rs891196509 CA260603650	279	N>D		No	ClinGen TOPMed gnomAD
VAR_016206 rs2274073 CA260603661	282	V>M		No	ClinGen UniProt TOPMed dbSNP gnomAD
CA260603681 rs1004243971	286	D>N		No	ClinGen Ensembl
TCGA novel	287	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7197902 rs778859924	290	S>F		No	ClinGen ExAC gnomAD
rs1310614201 CA389818559	292	K>R		No	ClinGen gnomAD
CA389818567 rs1279357790	293	T>I		No	ClinGen TOPMed
CA389818564 rs1258757259	293	T>P		No	ClinGen gnomAD
CA389818573 rs1594882612	294	M>I		No	ClinGen Ensembl
CA7197903 rs143881240	294	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA389818571 rs1317199073	294	M>T		No	ClinGen TOPMed
CA7197904 rs143881240	294	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA389818577 rs1313536073	295	M>V		No	ClinGen TOPMed gnomAD
CA389818602 rs1192664357	298	E>A		No	ClinGen TOPMed gnomAD
CA389818625 rs1432206456	301	A>P		No	ClinGen gnomAD
CA389818630 rs1594882760	302	L>V		No	ClinGen Ensembl
CA389818644 rs746647652	304	V>F		No	ClinGen ExAC TOPMed gnomAD
CA7197906 rs746647652	304	V>I		No	ClinGen ExAC TOPMed gnomAD
CA260603707 rs1038444017	305	V>I		No	ClinGen TOPMed
CA389818656 rs1476469541	306	D>A		No	ClinGen TOPMed
rs768345032 CA7197907	306	D>E		No	ClinGen ExAC TOPMed
rs1277096560 CA389818664	307	L>F		No	ClinGen TOPMed gnomAD
CA7197908 rs148680280	307	L>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	307	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763339083 CA7197909	310	E>Q		No	ClinGen ExAC gnomAD
CA7197910 rs766679618	311	K>N		No	ClinGen ExAC TOPMed gnomAD
rs558675926 CA260603727	313	G>A		No	ClinGen gnomAD
CA389818701 rs1437833845	313	G>C		No	ClinGen gnomAD
rs558675926 CA389818702	313	G>D		No	ClinGen gnomAD
rs1461132816 CA389818704	314	V>I		No	ClinGen TOPMed
rs202219187 CA7197911	315	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1455647258 CA389818711	315	I>V		No	ClinGen Ensembl
rs1200996556 CA389818718	316	Q>E		No	ClinGen TOPMed
CA389818719 rs1223110224	316	Q>P		No	ClinGen gnomAD
CA389818728 rs1484200737	317	D>G		No	ClinGen gnomAD
rs996519862 CA260603767	318	A>S		No	ClinGen TOPMed
rs201475986 CA7197913	320	K>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs113080743 CA260603782	320	K>R		No	ClinGen Ensembl
rs767701295 CA7197914	321	K>N		No	ClinGen ExAC TOPMed gnomAD
CA7197935 rs754024790	323	S>G		No	ClinGen ExAC TOPMed gnomAD
CA7197936 rs754024790	323	S>R		No	ClinGen ExAC TOPMed gnomAD
rs765063223 CA7197937	324	K>N		No	ClinGen ExAC gnomAD
CA260612110 rs538806788	325	G>E		No	ClinGen 1000Genomes
CA389819186 rs1463265787	327	L>S		No	ClinGen TOPMed
rs758297520 CA7197939	328	T>A		No	ClinGen ExAC gnomAD
rs1362892690 CA389819194	328	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs149289840 CA7197940	329	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7197941 rs751522621	329	T>M		No	ClinGen ExAC TOPMed gnomAD
CA7197942 rs754431201	330	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1300085936 CA389819215	332	H>R		No	ClinGen gnomAD
rs1450213174 CA389819213	332	H>Y		No	ClinGen gnomAD
CA7197943 rs780576179	333	Q>R		No	ClinGen ExAC gnomAD
CA7197944 rs747832410	334	L>F		No	ClinGen ExAC
TCGA novel	335	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA389819240 rs779315152	336	E>*		No	ClinGen ExAC TOPMed gnomAD
CA7197947 rs746260099	336	E>G		No	ClinGen ExAC gnomAD
CA7197946 rs779315152	336	E>K		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	338	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs913709764 CA260612170	339	K>R		No	ClinGen Ensembl
CA389819276 rs772585635	341	L>F		No	ClinGen ExAC gnomAD
CA7197948 rs772585635	341	L>V		No	ClinGen ExAC gnomAD
CA260612187 rs979567159	342	A>T		No	ClinGen Ensembl
rs1384188918 CA389819296	344	V>G		No	ClinGen TOPMed
TCGA novel	344	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7197950 rs373847990	345	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs373847990 CA7197951	345	K>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1566744546 CA389819310	346	E>D		No	ClinGen Ensembl
TCGA novel	347	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1207357368 CA389819323	348	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs376278295 CA7197952	349	A>V		No	ClinGen ESP ExAC gnomAD
rs762070492 CA7197953	350	A>D		No	ClinGen ExAC gnomAD
CA389819347 rs1179873382	352	K>N		No	ClinGen TOPMed gnomAD
rs147823515 CA260612211	352	K>R		No	ClinGen ESP TOPMed
CA7197954 rs141376736	353	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs766177694 CA389819356	354	R>L		No	ClinGen ExAC TOPMed gnomAD
rs766177694 CA7197958	354	R>P		No	ClinGen ExAC TOPMed gnomAD
rs766177694 CA7197957	354	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs17128636 CA7197956	354	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1416400130 CA389819358	355	C>R		No	ClinGen gnomAD
CA7197961 rs200968358	359	T>I		No	ClinGen ExAC TOPMed gnomAD
CA389819388 rs1447337422	359	T>P		No	ClinGen TOPMed
CA389819393 rs1333351185	360	Q>K		No	ClinGen gnomAD
rs781500713 CA7197987	361	E>A		No	ClinGen ExAC gnomAD
CA7197989 rs748705337	362	M>R		No	ClinGen ExAC gnomAD
rs1416564806 CA389819639	363	M>T		No	ClinGen gnomAD
CA7197990 rs1555370835	364	T>I		No	ClinGen Ensembl
CA389819648 rs1555370835	364	T>R		No	ClinGen Ensembl
CA7197994 rs773350573	368	R>S		No	ClinGen ExAC TOPMed gnomAD
rs749503541 CA389819683	369	S>N		No	ClinGen ExAC gnomAD
CA260614209 rs866485502	369	S>R		No	ClinGen Ensembl
CA7197995 rs749503541	369	S>T		No	ClinGen ExAC gnomAD
CA7197996 rs771191770	370	N>S		No	ClinGen ExAC gnomAD
CA7197997 rs774102268	371	V>A		No	ClinGen ExAC gnomAD
rs767368965 CA7197999	373	I>T		No	ClinGen ExAC gnomAD
CA260614296 rs775076835	374	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA7198000 rs775222762	375	R>G		No	ClinGen ExAC gnomAD
rs1275720121 CA389819724	376	M>T		No	ClinGen gnomAD
rs760730965 CA7198001	377	K>T		No	ClinGen ExAC TOPMed gnomAD
rs763498796 CA7198002	379	R>*		No	ClinGen ExAC gnomAD
rs753447264 CA7198004	379	R>L		No	ClinGen ExAC TOPMed gnomAD
rs753447264 CA7198003	379	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA389819755 CA389819754 COSM167200 rs1291545135	381	G>R	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA7198006 rs77212403	382	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs755238401 CA7198007	382	T>I		No	ClinGen ExAC gnomAD
CA7198009 rs753143536	387	H>D		No	ClinGen ExAC TOPMed gnomAD
rs1370063946 CA389819839	392	N>K		No	ClinGen gnomAD
rs1422690239 CA389819841	393	K>E		No	ClinGen gnomAD
rs1360973030 CA389819854	394	I>M		No	ClinGen gnomAD
CA389819852 rs1162648400	394	I>T		No	ClinGen gnomAD
CA7198010 rs564744260	395	H>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs564744260 CA389819858	395	H>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA389819859 rs564744260	395	H>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7198012 rs749411485	396	V>I		No	ClinGen ExAC gnomAD
CA260614404 rs776357263	397	S>G		No	ClinGen TOPMed
CA7198013 rs771031959	398	Y>C		No	ClinGen ExAC gnomAD
rs1244473644 CA389819885	399	Q>R		No	ClinGen gnomAD
CA260614416 rs1033659786	400	E>G		No	ClinGen Ensembl
rs1354946663 CA389819903	402	Q>E		No	ClinGen gnomAD
CA7198016 rs771758202	402	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1485675452 CA389819934	406	M>L		No	ClinGen gnomAD
rs1485675452 CA389819935	406	M>V		No	ClinGen gnomAD
rs150183620 CA260620048	408	F>Y		No	ClinGen ESP TOPMed
CA389820159 rs1341361683	409	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1407030773 CA389820167	410	Q>*		No	ClinGen gnomAD
CA389820166 rs1407030773	410	Q>E		No	ClinGen gnomAD
rs746061547 CA7198035	412	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs200262088 CA7198036	412	R>H		No	ClinGen ExAC TOPMed gnomAD
rs560228198 CA260620074	415	M>L		No	ClinGen Ensembl
rs1192194996 CA389820218	417	A>E		No	ClinGen gnomAD
rs1468773552 CA389820232	419	I>R		No	ClinGen gnomAD
CA260620088 rs201085354	419	I>V		No	ClinGen Ensembl
CA389820240 rs1170791721	420	A>V		No	ClinGen gnomAD
rs779678681 CA7198037	423	K>N		No	ClinGen ExAC gnomAD
CA389820295 rs1344972556	428	I>V		No	ClinGen TOPMed
rs1335499323 CA389820326	433	V>I		No	ClinGen TOPMed
rs1296775732 CA389820335	434	S>N		No	ClinGen gnomAD
CA7198038 rs539097277	437	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7198039 rs768592761	438	N>D		No	ClinGen ExAC TOPMed gnomAD
CA389820390 rs1285501347	442	S>N		No	ClinGen TOPMed gnomAD
CA260621557 rs138725576	443	K>N		No	ClinGen ESP TOPMed gnomAD
CA389820398 rs1321675465	443	K>T		No	ClinGen gnomAD
CA260621558 rs868714485	444	Q>K		No	ClinGen Ensembl
rs769902325 CA7198059	444	Q>R		No	ClinGen ExAC gnomAD
TCGA novel	451	L>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770374292 CA7198062	452	R>C		No	ClinGen ExAC TOPMed gnomAD
CA389820468 rs774000802	452	R>H		No	ClinGen ExAC gnomAD
CA7198063 rs774000802	452	R>L		No	ClinGen ExAC gnomAD
CA7198064 rs759194628	453	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs537530290 CA260621595	456	A>G		No	ClinGen 1000Genomes
rs148994177 CA7198065	456	A>S		No	ClinGen ESP ExAC gnomAD
CA7198066 rs777026933	457	R>K		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	458	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1485469506 CA389820512	459	V>L		No	ClinGen TOPMed
CA389820510 rs1485469506	459	V>M		No	ClinGen TOPMed
CA7198067 rs762273111	462	L>R		No	ClinGen ExAC gnomAD
rs1428654880 CA389820783	464	E>Q		No	ClinGen gnomAD
CA7198068 rs765730207	468	K>E		No	ClinGen ExAC gnomAD
CA7198069 rs750916028	470	Q>R		No	ClinGen ExAC gnomAD
CA389820861 rs1312611071	471	Q>*		No	ClinGen gnomAD
CA260621629 rs771577463	473	E>K		No	ClinGen Ensembl
CA260621633 rs984040113	474	V>A		No	ClinGen TOPMed
CA7198070 rs758444826	475	Q>R		No	ClinGen ExAC gnomAD
rs1207617541 CA389820917	476	K>E		No	ClinGen gnomAD
TCGA novel rs1024067339 CA260621659	477	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen TOPMed NCI-TCGA
CA260621666 rs971516800	480	E>V		No	ClinGen TOPMed
rs556442522 CA7198071	482	A>G		No	ClinGen 1000Genomes ExAC gnomAD
rs751799671 CA7198072	484	T>A		No	ClinGen ExAC gnomAD
rs755310818 CA7198073	484	T>I		No	ClinGen ExAC gnomAD
rs571417881 CA7198074	485	Q>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA389821265 rs1441021612	497	W>G		No	ClinGen gnomAD
rs771588231 CA7198101	499	E>D		No	ClinGen ExAC gnomAD
CA7198102 rs746668197	500	V>A		No	ClinGen ExAC gnomAD
rs770189058 CA7198103	501	Q>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA389821357 rs1261997280	505	R>G		No	ClinGen TOPMed gnomAD
rs773505018 CA7198104	506	K>R		No	ClinGen ExAC TOPMed gnomAD
CA389821385 rs763496515	507	R>K		No	ClinGen ExAC gnomAD
rs763496515 CA7198105	507	R>T		No	ClinGen ExAC gnomAD
rs536084203 CA389821408	509	A>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs536084203 CA7198106	509	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7198127 rs772276434	517	D>G		No	ClinGen ExAC gnomAD
TCGA novel	518	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA260624248 rs766183236	519	Q>P		No	ClinGen Ensembl
CA7198128 rs373396364	520	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	522	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA389821995 rs1292854898	523	V>A		No	ClinGen TOPMed gnomAD
CA389821991 rs1595004478	523	V>M		No	ClinGen Ensembl
CA7198130 rs764179675	524	A>T		No	ClinGen ExAC gnomAD
CA7198131 rs113776576	525	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	527	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7198132 rs185288307	528	E>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs765019412 CA7198134	531	S>G		No	ClinGen ExAC gnomAD
CA389822073 rs1486328433	534	S>R		No	ClinGen gnomAD
rs1206929567 CA389822079	535	K>M		No	ClinGen TOPMed gnomAD
CA7198135 rs750355970	537	T>A		No	ClinGen ExAC gnomAD
rs915831537 CA260624311	538	D>G		No	ClinGen Ensembl
rs143842292 CA389822103	539	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs143842292 CA7198136	539	T>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs111327763 CA260624312	541	V>I		No	ClinGen ExAC gnomAD
rs111327763 CA7198137	541	V>L		No	ClinGen ExAC gnomAD
TCGA novel	547	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA389822165 rs1168161824	548	Q>R		No	ClinGen TOPMed gnomAD
CA7198140 rs138403681	551	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1169002407 CA389822240	558	Q>L		No	ClinGen TOPMed gnomAD
CA7198144 rs746366620	559	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1338037763 CA389822254	560	R>M		No	ClinGen TOPMed gnomAD
rs776170138 CA7198146	560	R>S		No	ClinGen ExAC gnomAD
rs1314828205 CA389822271	563	K>E		No	ClinGen gnomAD
CA7198148 rs142989026	563	K>I		No	ClinGen ESP ExAC
CA389822275 rs1317710034	563	K>N		No	ClinGen gnomAD
rs1430264941 CA389822291	565	E>D		No	ClinGen TOPMed
CA7198149 rs776649207	565	E>V		No	ClinGen ExAC gnomAD
rs762162105 CA7198150	566	S>T		No	ClinGen ExAC gnomAD
CA260624377 rs1008792115	568	Q>H		No	ClinGen TOPMed gnomAD
rs1595005527 CA389822302	568	Q>K		No	ClinGen Ensembl
rs146129983 CA7198151	569	M>R		No	ClinGen ESP ExAC TOPMed
rs773039190 CA7198152	570	Q>*		No	ClinGen ExAC gnomAD
CA7198153 rs374845749	570	Q>R		No	ClinGen ESP ExAC gnomAD
rs766265729 CA7198154	571	V>F		No	ClinGen ExAC gnomAD
rs987323208 CA260624936	577	Q>H		No	ClinGen TOPMed gnomAD
CA7198184 rs201224728	579	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA389822393 rs1595010311	579	E>K		No	ClinGen Ensembl
rs1214406574 CA389822401	580	A>S		No	ClinGen TOPMed
CA389822405 rs1380360359	580	A>V		No	ClinGen TOPMed
CA16040387 rs1315133872	582	K>I		No	ClinGen TOPMed
CA7198185 rs773454931	583	A>S		No	ClinGen ExAC TOPMed gnomAD
rs773454931 CA260624945	583	A>T		No	ClinGen ExAC TOPMed gnomAD
rs762689133 CA7198186	584	Q>E		No	ClinGen ExAC gnomAD
CA7198187 rs770727303	585	I>F		No	ClinGen ExAC gnomAD
CA260624971 rs770727303	585	I>L		No	ClinGen ExAC gnomAD
rs774091223 CA389822458 CA7198188	588	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1218572262 CA389822462	589	H>R		No	ClinGen gnomAD
CA7198189 rs759587990	589	H>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA389822470 rs1296125110	590	S>C		No	ClinGen TOPMed gnomAD
rs766927714 CA7198190	591	Q>R		No	ClinGen ExAC gnomAD
CA7198191 rs141687867	592	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	593	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760376502 CA7198193	593	A>V		No	ClinGen ExAC gnomAD
rs1224322296 CA389822493	594	A>D		No	ClinGen gnomAD
rs1224322296 CA389822495	594	A>V		No	ClinGen gnomAD
CA7198194 rs375002171	595	Q>E		No	ClinGen ESP ExAC gnomAD
CA389822499 rs1479783443	595	Q>R		No	ClinGen gnomAD
TCGA novel	596	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781690331 CA7198217	598	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1284745677 CA389823024	599	S>L		No	ClinGen TOPMed
CA7198218 rs753218221	600	V>I		No	ClinGen ExAC gnomAD
TCGA novel	601	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777897732 CA7198221	602	A>E		No	ClinGen ExAC
rs756120987 CA7198219	602	A>T		No	ClinGen ExAC gnomAD
CA389823060 rs1231614017	603	E>K		No	ClinGen gnomAD
rs1355176303 CA389823116	607	K>E		No	ClinGen gnomAD
rs1377739023 CA389823222	609	I>T		No	ClinGen TOPMed
rs190507454 CA7198243	610	A>G		No	ClinGen 1000Genomes ExAC gnomAD
rs779135065 CA7198242	610	A>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	611	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs374767091 CA7198245	613	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA260627330 rs1021122435	614	K>R		No	ClinGen Ensembl
rs768752047 CA7198247	616	I>M		No	ClinGen ExAC gnomAD
CA389823283 rs1595027766	616	I>V		No	ClinGen Ensembl
rs776741282 CA7198248	617	K>E		No	ClinGen ExAC gnomAD
rs769201375 CA7198250	617	K>N		No	ClinGen ExAC gnomAD
CA7198249 rs747644634	617	K>R		No	ClinGen ExAC TOPMed gnomAD
CA389823299 rs1156261023	618	Q>H		No	ClinGen gnomAD
CA389823306 rs1346920604	619	T>S		No	ClinGen gnomAD
CA7198252 rs139488147	620	E>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs772855624 CA7198251	620	E>K		No	ClinGen ExAC gnomAD
rs979595074 CA260627408	621	D>A		No	ClinGen Ensembl
CA389823323 rs1370109557	622	S>Y		No	ClinGen TOPMed
CA7198254 rs561155495	625	S>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs775884609 CA7198255	625	S>N		No	ClinGen ExAC gnomAD
rs368865005 CA7198256	627	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA7198257 rs576195441	627	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7198259 rs35352203	628	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201463810 CA7198260	629	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs375858500 CA260627493	629	R>H	Variant assessed as Somatic; 4.643e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA7198261 rs142112144	631	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7198262 rs375766865	632	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA260627529 rs200715174	634	E>A		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	634	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7198263 rs200715174	634	E>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1243171004 CA389823411	636	E>Q		No	ClinGen TOPMed
CA389823421 rs1367061083	637	L>P		No	ClinGen gnomAD
rs1367061083 CA389823422	637	L>R		No	ClinGen gnomAD
rs1316209302 CA389823458	641	Q>*		No	ClinGen gnomAD
rs766659822 CA7198281	643	M>T		No	ClinGen ExAC gnomAD
rs147618532 CA7198280	643	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA7198282 rs751843658	645	F>S		No	ClinGen ExAC gnomAD
rs754753899 CA7198283	651	V>L		No	ClinGen ExAC gnomAD
CA7198284 rs754753899	651	V>M		No	ClinGen ExAC gnomAD
rs752669585 TCGA novel CA7198285	652	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ExAC TOPMed gnomAD
CA389823540 rs1183935162	652	Q>R		No	ClinGen gnomAD
CA7198286 rs201776660	653	K>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	654	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	654	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7198287 rs142184556	655	Q>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7198288 rs374085889	656	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	656	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1156346062 CA389823602	661	Q>H		No	ClinGen gnomAD
rs541385064 CA7198304	662	A>D		No	ClinGen 1000Genomes ExAC gnomAD
CA389823620 rs541385064	662	A>G		No	ClinGen 1000Genomes ExAC gnomAD
CA389823617 rs1464814892	662	A>T		No	ClinGen gnomAD
rs541385064 CA7198305	662	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs778448255 CA7198307	664	A>P		No	ClinGen ExAC TOPMed gnomAD
rs200602571 CA7198308	666	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA389823650 rs1224213099	667	E>D		No	ClinGen gnomAD
rs114095603 CA389823645	667	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
RCV000881538 CA7198309 rs114095603	667	E>Q		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1467180383 CA389823659	669	E>K		No	ClinGen TOPMed
rs1310395362 CA389823680	671	M>L		No	ClinGen gnomAD
CA7198312 rs370975326	673	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA389823800 rs1191190940	676	Y>C		No	ClinGen gnomAD
rs778259268 CA389823797	676	Y>D		No	ClinGen ExAC gnomAD
CA7198334 rs778259268	676	Y>H		No	ClinGen ExAC gnomAD
rs200096392 CA260628808	677	V>F		No	ClinGen 1000Genomes gnomAD
rs1451659866 CA389823821	678	K>N		No	ClinGen gnomAD
rs1042489817 CA260628816	680	D>G		No	ClinGen TOPMed gnomAD
CA389823834 rs1042489817	680	D>V		No	ClinGen TOPMed gnomAD
rs1425580302 CA389823838	681	K>E		No	ClinGen gnomAD
CA389823847 rs1166974304	682	I>V		No	ClinGen gnomAD
CA7198336 rs771608054	684	L>W		No	ClinGen ExAC gnomAD
rs187444881 CA7198337	685	L>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA389823923 rs1295425857	689	L>I		No	ClinGen TOPMed
TCGA novel	692	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA389823976 rs1159508004	693	I>V		No	ClinGen TOPMed
rs772210470 CA7198339	695	N>D		No	ClinGen ExAC gnomAD
CA389824008 rs1296649062	695	N>S		No	ClinGen gnomAD
rs775513418 CA7198340	696	K>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs761011842 CA7198341	699	E>A		No	ClinGen ExAC gnomAD
CA7198342 rs763771643	700	F>Y		No	ClinGen ExAC gnomAD
CA389824172 rs1302828693	702	I>T		No	ClinGen gnomAD
rs569334261 CA7198362	702	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1212708007 CA389824192	704	N>S		No	ClinGen gnomAD
CA7198364 rs773129207	706	Q>H		No	ClinGen ExAC gnomAD
CA7198365 rs140464911	708	K>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs145880665 CA7198366	708	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1414355754 CA389824258	709	A>P		No	ClinGen gnomAD
TCGA novel	711	K>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7198367 rs751122482	717	L>P		No	ClinGen ExAC gnomAD
CA389824368 rs995672897	717	L>V		No	ClinGen gnomAD
CA389824386 rs1363120547	718	Q>H		No	ClinGen TOPMed
CA7198369 rs368227576	724	Q>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1437221502 CA389824631	725	P>S		No	ClinGen TOPMed
rs765662007 CA7198391	728	D>E		No	ClinGen ExAC gnomAD
rs1333088176 CA389824655	728	D>G		No	ClinGen TOPMed
CA389824662 rs1471494649	729	V>A		No	ClinGen gnomAD
rs1162161093 CA389824668	730	V>A		No	ClinGen gnomAD
CA7198393 rs184612013	733	M>T		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	735	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1482064728 CA389824750	739	E>A		No	ClinGen gnomAD
CA7198421 rs755527870	743	K>N		No	ClinGen ExAC gnomAD
CA7198422 rs767553873	745	K>E		No	ClinGen ExAC gnomAD
CA389824793 rs1179425555	745	K>T		No	ClinGen gnomAD
CA7198423 rs752735536	747	V>A		No	ClinGen ExAC gnomAD
TCGA novel	749	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1177222200 CA389824825	750	L>I		No	ClinGen TOPMed gnomAD
CA389824836 rs1464859206	751	L>P		No	ClinGen gnomAD
rs1379798755 CA389824833	751	L>V		No	ClinGen gnomAD
TCGA novel	752	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749479920 CA260635103	754	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA7198426 rs749479920	754	G>V		No	ClinGen ExAC TOPMed gnomAD
rs202058688 CA7198428	756	I>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA7198429 rs138464625	756	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA7198430 rs772090586	757	Q>E		No	ClinGen ExAC gnomAD
CA389824876 rs1469760362	758	V>G		No	ClinGen TOPMed
CA260635146 rs908003209	758	V>M		No	ClinGen Ensembl
rs775587633 CA7198431	759	A>S		No	ClinGen ExAC gnomAD
rs775587633 CA7198432	759	A>T		No	ClinGen ExAC gnomAD
rs1310150933 CA389824882	759	A>V		No	ClinGen gnomAD
rs1233315020 CA389824884	760	T>A		No	ClinGen gnomAD
rs138926495 CA7198435	763	E>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA389824948 rs141446764	767	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA389824945 rs1419092308	767	A>T		No	ClinGen gnomAD
CA7198452 rs141446764	767	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs780608662 CA7198454	768	I>M		No	ClinGen ExAC TOPMed gnomAD
rs768209385 CA7198453	768	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1460904166 CA389824963	770	T>A		No	ClinGen gnomAD
rs117834921 CA7198455	771	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA389824976 rs1221239866	772	N>D		No	ClinGen TOPMed gnomAD
CA389824975 rs1221239866	772	N>H		No	ClinGen TOPMed gnomAD
CA389825029 rs769281116	780	Q>*		No	ClinGen ExAC gnomAD
CA7198456 rs769281116	780	Q>E		No	ClinGen ExAC gnomAD
CA389825039 rs1176697880	781	D>G		No	ClinGen TOPMed
rs1379481922 CA389825035	781	D>Y		No	ClinGen TOPMed gnomAD
CA389825058 rs1229506867	784	A>T		No	ClinGen gnomAD
rs1333318366 CA389825076	786	Q>R		No	ClinGen gnomAD
CA389825090 rs1269328910	788	D>Y		No	ClinGen gnomAD
TCGA novel	789	Q>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1466484294 CA389825098	789	Q>E		No	ClinGen TOPMed gnomAD
CA389825139 rs1273574140	793	A>D		No	ClinGen TOPMed
rs1253844454 CA389825145	794	S>C		No	ClinGen gnomAD
CA7198482 rs567703390	794	S>P		No	ClinGen 1000Genomes ExAC gnomAD
CA389825142 rs567703390	794	S>T		No	ClinGen 1000Genomes ExAC gnomAD
CA389825148 rs1468580789	795	L>V		No	ClinGen gnomAD
CA389825156 rs1157769314	796	V>A		No	ClinGen gnomAD
rs1157769314 CA389825157	796	V>G		No	ClinGen gnomAD
TCGA novel	798	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA389825166 rs1425690762	798	E>K		No	ClinGen gnomAD
rs779707035	801	K>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA7198484 rs775870039	802	V>M		No	ClinGen ExAC TOPMed gnomAD
rs560451505 CA260639450	803	I>N		No	ClinGen 1000Genomes
rs777329548 CA7198503	804	H>L		No	ClinGen ExAC TOPMed gnomAD
CA389825227 rs1304914295	805	E>Q		No	ClinGen TOPMed
rs11547322 CA260639461	806	K>R		No	ClinGen Ensembl
rs756948606 CA389825247	807	D>E		No	ClinGen ExAC gnomAD
CA7198506 rs45460501	809	K>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1161678446 CA389825267	810	I>S		No	ClinGen gnomAD
CA389825273 rs1253890079	811	K>R		No	ClinGen Ensembl
CA260639478 rs952136642	814	E>G		No	ClinGen TOPMed gnomAD
rs747275462 CA7198507	814	E>K		No	ClinGen ExAC gnomAD
CA7198508 rs370535364	815	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs374616954 CA7198509	817	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA7198511 rs769965562	820	E>Q		No	ClinGen ExAC gnomAD
rs1252210290 CA389825336	821	L>H		No	ClinGen gnomAD
rs138894025 CA7198512	823	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA389825353 rs544999641	824	V>I		No	ClinGen ExAC TOPMed gnomAD
CA7198513 rs544999641	824	V>L		No	ClinGen ExAC TOPMed gnomAD
CA389825357 rs1233376451	825	A>T		No	ClinGen TOPMed
CA7198514 rs766668407	825	A>V		No	ClinGen ExAC gnomAD
CA7198515 rs774637671	826	N>K		No	ClinGen ExAC TOPMed gnomAD
rs1163373491 CA389825373	827	K>R		No	ClinGen gnomAD
CA7198517 rs574810659	831	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA389825408 rs1394119741	832	Q>P		No	ClinGen TOPMed gnomAD
CA389825409 rs1394119741	832	Q>R		No	ClinGen TOPMed gnomAD
rs771731434 CA7198538	836	Q>*		No	ClinGen ExAC gnomAD
CA389825452 rs1257850844	836	Q>H		No	ClinGen TOPMed gnomAD
CA7198539 rs775400802	840	A>S		No	ClinGen ExAC TOPMed gnomAD
CA7198540 rs775400802	840	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA389825481 rs143976057	841	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1181630835 CA389825508	844	E>D		No	ClinGen TOPMed
CA7198543 rs761303585	848	V>G		No	ClinGen ExAC TOPMed gnomAD
CA389825547 rs1247088587	850	L>P		No	ClinGen gnomAD
rs1043472948 CA260639680	852	K>E		No	ClinGen Ensembl
rs148189219 CA260639684	853	A>P		No	ClinGen ESP ExAC gnomAD
rs148189219 CA7198544	853	A>S		No	ClinGen ESP ExAC gnomAD
rs747509348 CA7198545	853	A>V		No	ClinGen ExAC gnomAD
rs1007207126 CA260639695	855	Q>K		No	ClinGen Ensembl
CA7198564 rs764633112	858	I>V		No	ClinGen ExAC TOPMed gnomAD
rs749901381 CA7198565	859	T>A		No	ClinGen ExAC gnomAD
CA389825616 rs1168476895	859	T>I		No	ClinGen gnomAD
rs1372406890 CA389825627	861	K>R		No	ClinGen gnomAD
rs762402165 CA7198566	863	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs1327666869 CA389825654	865	L>F		No	ClinGen gnomAD
rs76902262 CA7198568	866	Q>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs185114882 CA7198569	867	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs774141695 CA7198589	870	K>N		No	ClinGen ExAC gnomAD
rs765862541 CA7198588	870	K>R		No	ClinGen ExAC gnomAD
rs1171080607 CA389825740	875	Q>H		No	ClinGen TOPMed
CA389825761 rs1193647954	878	T>S		No	ClinGen gnomAD
CA7198593 rs757589325	879	M>I		No	ClinGen ExAC gnomAD
CA7198592 rs754203930	879	M>V		No	ClinGen ExAC gnomAD
rs1241761492 CA389825781	881	A>S		No	ClinGen TOPMed gnomAD
rs766672101 CA7198595	882	V>D		No	ClinGen ExAC gnomAD
CA7198594 rs765705418	882	V>I		No	ClinGen ExAC TOPMed gnomAD
CA7198596 rs758505726	883	L>F		No	ClinGen ExAC gnomAD
rs1474871081 CA389825825	887	E>G		No	ClinGen gnomAD
rs747213301 CA7198598	889	D>A		No	ClinGen ExAC gnomAD
CA389825837 rs1566805171	889	D>N		No	ClinGen Ensembl
rs755145973 CA7198600	890	L>V		No	ClinGen ExAC TOPMed gnomAD
CA7198601 rs747910010	892	N>D		No	ClinGen ExAC TOPMed gnomAD
rs975196589 CA260641597	892	N>S		No	ClinGen TOPMed gnomAD
CA7198602 rs200009070	894	G>R		No	ClinGen 1000Genomes ExAC gnomAD
CA260641602 rs200009070	894	G>W		No	ClinGen 1000Genomes ExAC gnomAD
rs1555381480 CA7198603	895	K>R		No	ClinGen Ensembl
CA389825914 rs1236924356	899	D>Y		No	ClinGen TOPMed
rs1440500870 CA389825945	903	E>A		No	ClinGen gnomAD
rs1279283853 CA389825950	904	N>H		No	ClinGen gnomAD
rs147358063 CA7198623	904	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	905	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	909	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA389825998 rs530572536	910	H>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7198626 rs374610828	910	H>R		No	ClinGen ESP ExAC gnomAD
rs1242155419 CA389825994	910	H>Y		No	ClinGen TOPMed
rs1259123164 CA389826011	912	Q>H		No	ClinGen TOPMed gnomAD
CA7198628 rs771718196	912	Q>L		No	ClinGen ExAC TOPMed gnomAD
CA389826009 rs771718196	912	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1330614669 CA389826012	913	E>K		No	ClinGen TOPMed
rs775207836 CA7198629	914	V>L		No	ClinGen ExAC TOPMed gnomAD
rs139730003 CA7198630	915	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1266384221 CA389826042	917	H>R		No	ClinGen gnomAD
CA389826038 rs1456570126	917	H>Y		No	ClinGen TOPMed
rs773402721 CA7198632	919	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1425465661 CA389826073	921	E>A		No	ClinGen TOPMed
CA389826074 rs1595127614	921	E>D		No	ClinGen Ensembl
rs1425465661 CA389826072	921	E>V		No	ClinGen TOPMed
rs752669517 CA7198661	923	S>T		No	ClinGen ExAC gnomAD
TCGA novel	926	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA389826117 rs1293874045	927	Q>K		No	ClinGen gnomAD
CA389826120 rs1336802525	927	Q>R		No	ClinGen gnomAD
rs1231249249 CA389826138	929	E>A		No	ClinGen gnomAD
rs760839168 CA7198662	930	E>G		No	ClinGen ExAC gnomAD
CA389826150 rs1400023821	931	L>F		No	ClinGen TOPMed
CA389826163 rs1354639225	933	I>V		No	ClinGen Ensembl
rs373796242 CA7198663	934	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1043342813 CA260643215	937	E>K		No	ClinGen Ensembl
CA7198677 rs746253309	937	E>V		No	ClinGen ExAC TOPMed gnomAD
rs1367556354 CA389826216	939	E>K		No	ClinGen TOPMed
CA389826230 rs1455687812	941	E>K		No	ClinGen TOPMed
rs1302237305 CA389826244	942	L>F		No	ClinGen TOPMed gnomAD
rs1397079021 CA389826256	944	R>T		No	ClinGen gnomAD
rs1392943538 CA389826277	947	A>T		No	ClinGen gnomAD
CA389826282 rs1304527628	948	M>V		No	ClinGen gnomAD
CA7198680 rs776065184	949	L>Q		No	ClinGen ExAC TOPMed gnomAD
rs1305156866 CA389826299	950	K>T		No	ClinGen gnomAD
rs1007393300 CA260643230	951	E>Q		No	ClinGen Ensembl
rs764289569 CA7198682	953	E>D		No	ClinGen ExAC gnomAD
rs1345179987 CA389826316	953	E>K		No	ClinGen gnomAD
CA260643237 rs936437533	954	S>R		No	ClinGen TOPMed
CA389826338 rs1255952139	956	L>I		No	ClinGen TOPMed gnomAD
CA260643243 rs1040226404	957	S>P		No	ClinGen gnomAD
CA389826370 rs1262357567	960	T>I		No	ClinGen TOPMed
CA260643253 rs112891365	961	Q>R		No	ClinGen Ensembl
TCGA novel	962	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768600077 CA7198705	965	D>G		No	ClinGen ExAC gnomAD
rs768600077 CA7198706	965	D>V		No	ClinGen ExAC gnomAD
CA389826412 rs1205614912	965	D>Y		No	ClinGen TOPMed
CA389826416 rs762018806	966	V>I		No	ClinGen ExAC TOPMed gnomAD
CA7198707 rs762018806	966	V>L		No	ClinGen ExAC TOPMed gnomAD
CA7198708 rs147179629	968	D>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs865824600 CA260644665	972	L>W		No	ClinGen TOPMed
CA7198710 rs762642970	973	F>L		No	ClinGen ExAC TOPMed gnomAD
rs370457834 CA7198712	974	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA389826480 rs1312585702	975	S>T		No	ClinGen TOPMed
CA7198713 rs759565360	976	Q>K		No	ClinGen ExAC gnomAD
rs767463546 CA7198714	977	I>T		No	ClinGen ExAC gnomAD
CA7198715 rs752161635	978	E>K		No	ClinGen ExAC gnomAD
rs1372843282 CA389826519	980	L>R		No	ClinGen TOPMed
CA389826521 rs1486912390	981	K>E		No	ClinGen gnomAD
rs777345877 CA7198717	984	N>K		No	ClinGen ExAC gnomAD
rs755624137 CA7198716	984	N>S		No	ClinGen ExAC gnomAD
rs760161165 CA7198737	989	S>F		No	ClinGen ExAC gnomAD
TCGA novel	990	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA389826612 rs1566820308	992	P>S		No	ClinGen Ensembl
rs753399027 CA7198739	993	P>L		No	ClinGen ExAC gnomAD
rs1436018799 CA389826622	994	H>D		No	ClinGen TOPMed gnomAD
TCGA novel	994	H>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7198740 rs756887758	994	H>P		No	ClinGen ExAC
CA7198741 rs778463238	996	E>K		No	ClinGen ExAC gnomAD
CA389826649 rs1319055455	997	L>F		No	ClinGen TOPMed
TCGA novel	997	L>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751889359 CA7198742	999	K>E		No	ClinGen ExAC TOPMed gnomAD
CA7198743 rs755410824	999	K>T		No	ClinGen ExAC TOPMed gnomAD
CA389826666 rs1375805104	1000	V>G		No	ClinGen gnomAD
CA7198745 rs781761370	1000	V>I		No	ClinGen ExAC TOPMed gnomAD
rs781761370 CA7198744	1000	V>L		No	ClinGen ExAC TOPMed gnomAD
CA389826714 rs1245690857	1001	I>V		No	ClinGen TOPMed gnomAD
rs139593506 CA7198768	1009	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs889172615 CA260646263	1010	G>R		No	ClinGen Ensembl
TCGA novel	1010	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA389826785 rs1426368330	1011	L>F		No	ClinGen gnomAD
RCV000912550 rs149795430 CA7198769	1016	D>G		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs199963463 CA7198771	1020	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA260646271 rs1018943309	1021	A>T		No	ClinGen gnomAD
CA389826862 rs1330648739	1022	V>L		No	ClinGen gnomAD
CA389826890 rs1431535504	1025	Q>H		No	ClinGen gnomAD
rs1271892393 CA389826892	1026	R>W		No	ClinGen gnomAD
CA389826926 rs1258705802	1030	N>S		No	ClinGen TOPMed
CA389826948 rs1236544039	1031	D>G		No	ClinGen gnomAD
rs368815405 CA260647164	1032	L>V		No	ClinGen ESP
CA7198791 rs780262282	1033	R>Q		No	ClinGen ExAC gnomAD
CA7198790 rs758565547	1033	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1595208984 CA389826983	1037	W>R		No	ClinGen Ensembl
CA7198792 rs746751859	1038	E>G		No	ClinGen ExAC TOPMed gnomAD
rs370977896 CA260647171	1038	E>K		No	ClinGen ESP
rs1171917251 CA389827000	1039	A>T		No	ClinGen gnomAD
rs1397014034 CA389827008	1040	M>T		No	ClinGen gnomAD
rs1566829786 CA389827005	1040	M>V		No	ClinGen Ensembl
rs768397738 CA7198793	1042	A>S		No	ClinGen ExAC gnomAD
rs201545399 CA260647179	1044	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201545399 CA7198794	1044	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1441023117 CA389827040	1045	S>L		No	ClinGen TOPMed gnomAD
CA389827037 rs1375634290	1045	S>T		No	ClinGen TOPMed gnomAD
CA389827047 rs1309928872	1046	T>S		No	ClinGen gnomAD
TCGA novel	1048	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7198796 CA260647182 rs769325537	1049	M>I		No	ClinGen ExAC gnomAD
rs1231776700 CA389827067	1049	M>L		No	ClinGen TOPMed gnomAD
rs1255899608 CA389827069	1049	M>T		No	ClinGen gnomAD
rs139370361 CA7198797	1050	L>V		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs1457435130 CA389827096	1053	K>R		No	ClinGen gnomAD
CA389827104 rs1194502697	1054	V>A		No	ClinGen gnomAD
rs373464802 CA7198799	1055	N>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA389827112 rs774158128	1055	N>K		No	ClinGen ExAC gnomAD
rs1198131107 CA389827117	1056	K>R		No	ClinGen gnomAD
rs761106926 CA7198801	1057	T>A		No	ClinGen ExAC gnomAD
CA7198803 rs148540209	1058	S>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA389827533 rs1209833279	1060	E>G		No	ClinGen TOPMed
rs528750103 CA7198828	1061	R>G		No	ClinGen 1000Genomes ExAC gnomAD
rs201282068 CA260650130	1063	Q>H		No	ClinGen 1000Genomes
rs1252897941 CA389827566	1065	V>M		No	ClinGen TOPMed
CA7198829 rs766490732	1066	E>A		No	ClinGen ExAC gnomAD
CA389827598 rs373483352	1069	E>D		No	ClinGen ESP TOPMed gnomAD
rs370671041 CA7198830	1069	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs755107785 CA7198831	1072	A>T		No	ClinGen ExAC gnomAD
rs781510066 CA7198832	1072	A>V		No	ClinGen ExAC gnomAD
rs549465591 CA7198834	1074	E>D		No	ClinGen ExAC gnomAD
rs1233985976 CA389827629	1074	E>V		No	ClinGen TOPMed
rs756061959 CA7198836	1077	K>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1078	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1411193767 CA389827668	1080	F>L		No	ClinGen gnomAD
rs200757675 CA7198838	1082	K>E		No	ClinGen 1000Genomes ExAC gnomAD
rs972138838 CA260650153	1083	V>G		No	ClinGen TOPMed
CA7198840 rs771582206	1083	V>M		No	ClinGen ExAC gnomAD
CA389827692 rs1417289510	1084	S>T		No	ClinGen gnomAD
CA389827699 rs1296926181	1085	V>L		No	ClinGen gnomAD
rs748450933 CA7198842	1086	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1347982308 CA389827744	1090	S>N		No	ClinGen TOPMed gnomAD
rs1409715914 CA389827752	1091	Y>S		No	ClinGen TOPMed
rs1165066832 CA389827766	1093	E>V		No	ClinGen TOPMed
CA389827791 rs1422380553	1096	H>R		No	ClinGen TOPMed
rs769089111 CA260650994	1099	E>D		No	ClinGen Ensembl
rs1284596609 CA389827809	1099	E>K		No	ClinGen TOPMed gnomAD
CA260650995 rs895853160	1102	A>E		No	ClinGen Ensembl
rs1438655793	1102	A>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs374265603 CA7198875	1103	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1104	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA389827870 rs1231083964	1105	C>R		No	ClinGen TOPMed
CA389827873 rs1566843320	1105	C>Y		No	ClinGen Ensembl
rs753645018 CA7198876	1108	G>V		No	ClinGen ExAC gnomAD
CA7198878 rs146550320	1109	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	1111	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1111	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1595263904 CA389827941	1112	S>A		No	ClinGen Ensembl
rs141379845 CA7198881	1114	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1595264031 CA389827978	1115	V>G		No	ClinGen Ensembl
rs1595270014 CA389828208	1117	V>I		No	ClinGen Ensembl
rs1036076326 CA260651219	1119	E>D		No	ClinGen Ensembl
rs145188150 CA260651220	1120	H>L		No	ClinGen ESP
CA389828229 rs1381449672	1120	H>Q		No	ClinGen gnomAD
rs1334483921 CA389828231	1121	K>Q		No	ClinGen gnomAD
rs1342038362 CA389828250	1123	K>R		No	ClinGen gnomAD
rs780428965 CA7198909	1128	M>I		No	ClinGen ExAC gnomAD
CA389828294 rs1241625857	1129	H>Y		No	ClinGen gnomAD
CA389828305 rs1188212088	1130	T>R		No	ClinGen Ensembl
rs994500783 CA260651227	1133	Q>E		No	ClinGen Ensembl
CA7198911 rs370065133	1134	L>I		No	ClinGen ESP ExAC gnomAD
CA7198914 rs769932410	1142	V>I		No	ClinGen ExAC gnomAD
rs200059083 CA260651234	1143	L>I		No	ClinGen Ensembl
rs773020378 CA7198915	1144	A>V		No	ClinGen ExAC gnomAD
CA7198916 rs762663663	1145	E>K		No	ClinGen ExAC gnomAD
CA389828456 rs1334143124	1151	Q>P		No	ClinGen TOPMed
CA7198935 rs774238989	1152	K>M		No	ClinGen ExAC gnomAD
CA389828464 rs774238989	1152	K>T		No	ClinGen ExAC gnomAD
rs1233626877 CA389828477	1154	Q>R		No	ClinGen TOPMed gnomAD
rs767461651 CA7198937	1157	V>I		No	ClinGen ExAC gnomAD
TCGA novel	1158	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs538400423 CA7198938	1159	Q>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1399152967 CA389828522	1160	E>D		No	ClinGen TOPMed
CA389828543 rs1428708884	1163	K>T		No	ClinGen TOPMed
rs1222068942 CA389828549	1164	W>R		No	ClinGen gnomAD
rs535461364 CA7198939	1166	V>I		No	ClinGen ExAC TOPMed gnomAD
CA389828588 rs1480365953	1169	D>E		No	ClinGen gnomAD
CA7198942 rs758784392	1169	D>N		No	ClinGen ExAC gnomAD
rs555303094 CA7198943	1169	D>V		No	ClinGen ExAC TOPMed gnomAD
CA389828610 rs1269384094	1172	H>Q		No	ClinGen gnomAD
CA260651305 rs891544746	1172	H>R		No	ClinGen TOPMed
CA389828606 rs1210451377	1172	H>Y		No	ClinGen TOPMed gnomAD
CA389828617 rs1431436342	1173	K>N		No	ClinGen gnomAD
CA389828620 rs1386824498	1174	T>A		No	ClinGen gnomAD
rs1010438359 CA260651309	1175	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
TCGA novel	1177	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751906533 CA7198964	1178	M>L		No	ClinGen ExAC gnomAD
rs1245278232 CA389828671	1179	Q>R		No	ClinGen gnomAD
CA7198965 rs759996477	1180	S>*		No	ClinGen ExAC TOPMed gnomAD
rs759996477 CA389828678	1180	S>L		No	ClinGen ExAC TOPMed gnomAD
rs893049062 CA260651537	1181	S>L		No	ClinGen Ensembl
CA7198966 rs768129128	1182	F>C		No	ClinGen ExAC gnomAD
rs1213549469 CA389828703	1184	S>F		No	ClinGen gnomAD
rs1183277506 CA389828708	1185	S>L		No	ClinGen gnomAD
rs1483439834 CA389828705	1185	S>P		No	ClinGen TOPMed gnomAD
rs140569691 CA7198967	1187	Q>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs140569691 CA389828718	1187	Q>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1443502832 CA389828727	1188	E>*		No	ClinGen gnomAD
rs1173552359 CA389828736	1189	L>P		No	ClinGen TOPMed
CA389828746 rs1178651779	1191	R>G		No	ClinGen gnomAD
CA7198968 rs756191445	1191	R>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA389828748 rs756191445	1191	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs753971372 CA260651549	1194	S>R		No	ClinGen ExAC TOPMed gnomAD
CA260651552 rs889896581	1195	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA7198971 rs757426390	1196	N>S		No	ClinGen ExAC TOPMed gnomAD
CA389828797 rs1595280262	1198	D>G		No	ClinGen Ensembl
CA7198973 rs745603741	1199	I>T		No	ClinGen ExAC TOPMed gnomAD
rs150108203 CA7198996	1205	E>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA389828855 rs1202205912	1205	E>Q		No	ClinGen gnomAD
CA7198998 rs138427703	1206	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs762745928 CA7198999	1206	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs770726955 CA389828867	1207	E>A		No	ClinGen ExAC TOPMed gnomAD
rs770726955 CA7199000	1207	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1467836217 CA389828899	1211	M>I		No	ClinGen gnomAD
CA389828896 rs1254934028	1211	M>T		No	ClinGen Ensembl
CA389828894 rs1350536553	1211	M>V		No	ClinGen TOPMed gnomAD
rs370695157 CA7199002	1212	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA7199003 rs142760084	1215	K>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs772537406 CA260651660	1218	M>T		No	ClinGen Ensembl
CA7199004 rs374073665	1220	R>*		No	ClinGen ESP ExAC gnomAD
CA260651665 rs146919612	1220	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA7199005 rs146919612	1220	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1354832401 CA389828962	1221	S>P		No	ClinGen TOPMed
CA389828988 rs1566848857	1223	Y>C		No	ClinGen Ensembl
CA7199007 rs750621084	1224	V>I		No	ClinGen ExAC gnomAD
rs758580975 CA7199008	1225	T>I		No	ClinGen ExAC TOPMed gnomAD
rs766630791 CA7199009	1227	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1427212497 CA389829058	1229	E>G		No	ClinGen Ensembl
CA389829111 rs1446538512	1230	L>P		No	ClinGen gnomAD
rs754702168 CA7199029	1232	D>N		No	ClinGen ExAC TOPMed gnomAD
rs372815686 VAR_079266 CA7199030	1233	L>M		No	ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD
rs372815686 CA7199031	1233	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA7199033 rs777855798	1235	T>P		No	ClinGen ExAC gnomAD
rs137907482 CA260651736	1236	E>D		No	ClinGen ESP TOPMed gnomAD
rs748745831 CA7199034	1237	L>S		No	ClinGen ExAC gnomAD
TCGA novel	1237	L>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7199035 rs756846637	1238	Q>R		No	ClinGen ExAC gnomAD
CA389829211 rs1189729529	1239	K>T		No	ClinGen TOPMed
CA7199037 rs745574121	1241	L>R		No	ClinGen ExAC
rs768878340 CA7199038	1242	D>Y		No	ClinGen ExAC gnomAD
rs1215481871 CA389829287	1245	Y>F		No	ClinGen TOPMed
rs537088531 CA7199040	1245	Y>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1281740776 CA389829303	1247	E>K		No	ClinGen gnomAD
CA389829317 rs1595286044	1248	A>T		No	ClinGen Ensembl
rs1349014449 CA389829329	1249	V>I		No	ClinGen gnomAD
CA7199042 rs770230763	1251	Q>*		No	ClinGen ExAC gnomAD
TCGA novel	1253	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1462877732 CA389829425	1257	L>W		No	ClinGen gnomAD
rs1329032345 CA389830064	1259	K>N		No	ClinGen TOPMed
CA389830058 rs1398592914	1259	K>Q		No	ClinGen TOPMed
rs759535270 CA7199065	1259	K>R		No	ClinGen ExAC
CA389830075 rs1285303722	1261	Q>R		No	ClinGen TOPMed gnomAD
rs772358217 CA7199066	1266	L>F		No	ClinGen ExAC TOPMed gnomAD
rs772358217 CA389830109	1266	L>V		No	ClinGen ExAC TOPMed gnomAD
rs775910491 CA7199067	1267	T>A		No	ClinGen ExAC gnomAD
rs144185200 CA7199068	1267	T>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7199069 rs144185200	1267	T>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1403434421 CA389830118	1268	K>E		No	ClinGen gnomAD
rs1282895047 CA389830126	1269	L>F		No	ClinGen gnomAD
CA389830135 rs1229876949	1270	R>S		No	ClinGen gnomAD
CA389830146 rs1186985562	1272	E>A		No	ClinGen TOPMed
rs1238566569 CA389830155	1273	Q>R		No	ClinGen TOPMed gnomAD
CA7199073 rs578050973	1274	N>K		No	ClinGen 1000Genomes ExAC gnomAD
CA7199072 rs199620320	1274	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7199074 rs757904033	1276	R>K		No	ClinGen ExAC TOPMed gnomAD
CA7199075 rs779679125	1279	V>I		No	ClinGen ExAC TOPMed gnomAD
CA389830196 rs779679125	1279	V>L		No	ClinGen ExAC TOPMed gnomAD
CA389830208 rs1429996270	1281	G>S		No	ClinGen TOPMed gnomAD
rs201228971 CA260652722	1284	H>R		No	ClinGen TOPMed gnomAD
CA7199078 rs778065836	1284	H>Y		No	ClinGen ExAC gnomAD
TCGA novel	1285	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA260652725 rs960826250	1285	K>T		No	ClinGen TOPMed
rs1245207407 CA389830484	1288	Q>*		No	ClinGen gnomAD
CA389830535 rs1318522617	1291	E>D		No	ClinGen gnomAD
CA7199101 rs780230803	1292	L>F		No	ClinGen ExAC gnomAD
rs1259784702 CA389830588	1296	K>T		No	ClinGen gnomAD
rs1461542594 CA389830617	1299	K>E		No	ClinGen TOPMed gnomAD
rs747116814 CA7199102	1299	K>N		No	ClinGen ExAC gnomAD
CA7199103 rs768931962	1301	A>S		No	ClinGen ExAC gnomAD
rs1423268421 CA389830680	1304	T>I		No	ClinGen TOPMed gnomAD
rs115128151 CA7199106	1307	I>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7199105 RCV000963312 rs115128151	1307	I>T		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA7199104 rs776777622	1307	I>V		No	ClinGen ExAC gnomAD
rs375810355 CA7199107	1310	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA260653842 rs984545980	1310	S>I		No	ClinGen TOPMed gnomAD
CA7199109 rs556483924	1311	D>G		No	ClinGen ExAC TOPMed gnomAD
rs762831947 CA389830756	1311	D>H		No	ClinGen ExAC TOPMed gnomAD
rs762831947 CA7199108	1311	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA389830788 rs1470455027	1313	S>F		No	ClinGen gnomAD
rs773788056 CA7199110	1314	P>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1314	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752354703	1316	T>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs548275870 CA7199112	1316	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
VAR_035932	1316	T>P	a breast cancer sample; somatic mutation [UniProt]	No	UniProt
rs145173141 CA7199126	1319	S>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs951251933 CA260654408	1321	K>N		No	ClinGen Ensembl
rs1304070713	1321	K>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA260654413 rs984232150	1323	T>I		No	ClinGen Ensembl
rs1274560773 CA389831025	1324	M>I		No	ClinGen gnomAD
CA7199128 rs369223011	1324	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA7199129 rs771519320	1325	S>C		No	ClinGen ExAC gnomAD
CA7199130 rs771519320	1325	S>F		No	ClinGen ExAC gnomAD
TCGA novel	1325	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA260654432 rs200343997	1326	V>I		No	ClinGen ExAC gnomAD
rs200343997 CA7199131	1326	V>L		No	ClinGen ExAC gnomAD
CA7199132 rs762824668	1328	L>V		No	ClinGen ExAC gnomAD
rs1490618257 CA389831070	1329	N>H		No	ClinGen TOPMed gnomAD
TCGA novel	1330	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA389831101 rs1162246481	1331	T>A		No	ClinGen TOPMed
rs1017023732 CA260654442	1331	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA7199134 rs750750801	1333	T>A		No	ClinGen ExAC TOPMed gnomAD
CA389831128 rs1413519432	1334	Q>E		No	ClinGen TOPMed
rs1472188446 CA389831161	1336	Q>*		No	ClinGen TOPMed
CA7199137 rs763422502	1336	Q>R		No	ClinGen ExAC gnomAD
rs766990058 CA7199138	1337	Q>H		No	ClinGen ExAC gnomAD
CA389831171 rs1366053678	1337	Q>K		No	ClinGen gnomAD
rs1426468510 CA389831178	1337	Q>R		No	ClinGen gnomAD
rs1344613897 CA389831200	1339	L>F		No	ClinGen TOPMed gnomAD
rs1431061358 CA389831211	1340	Q>E		No	ClinGen gnomAD
CA389831217 rs1271530094	1340	Q>R		No	ClinGen TOPMed gnomAD
rs139286090 CA7199139	1341	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA7199141 rs781085019	1342	V>L		No	ClinGen ExAC gnomAD
CA389831530 rs1360882352	1345	Q>*		No	ClinGen gnomAD
rs1209444426 CA389831532	1345	Q>R		No	ClinGen TOPMed
CA7199143 rs146545987	1348	K>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1329023199 CA389831556	1349	E>*		No	ClinGen TOPMed
CA389831555 rs1329023199	1349	E>K		No	ClinGen TOPMed
rs778074975 CA260654487	1352	H>Q		No	ClinGen ExAC gnomAD
CA389831592 rs1451365044	1352	H>R		No	ClinGen gnomAD
CA7199145 rs749073775	1353	Y>C		No	ClinGen ExAC gnomAD
CA389831616 rs1336396896	1354	Q>*		No	ClinGen gnomAD
CA389831624 rs1474475652	1354	Q>H		No	ClinGen gnomAD
CA7199146 rs200347715	1355	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA389831626 rs200347715	1355	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1201775154 CA389831673	1357	E>D		No	ClinGen gnomAD
CA7199181 rs372736259	1358	E>G		No	ClinGen ExAC TOPMed gnomAD
rs772990991 CA260654984	1358	E>L		No	ClinGen gnomAD
rs372736259 CA260654977	1358	E>R		No	ClinGen ExAC TOPMed gnomAD

No associated diseases with Q86UP2

1 regional properties for Q86UP2

Type	Name	Position	InterPro Accession
domain	Ribosome receptor lysine/proline rich	29 - 166	IPR007794

Functions

		Description
EC Number
Subcellular Localization	Endoplasmic reticulum membrane; Single-pass type II membrane protein	Vesicle membrane protein anchored to the endoplasmic reticulum
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

7 GO annotations of cellular component

Name	Definition
endoplasmic reticulum	The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).
endoplasmic reticulum lumen	The volume enclosed by the membranes of the endoplasmic reticulum.
endoplasmic reticulum membrane	The lipid bilayer surrounding the endoplasmic reticulum.
integral component of endoplasmic reticulum membrane	The component of the endoplasmic reticulum membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
integral component of membrane	The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
integral component of plasma membrane	The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.

3 GO annotations of molecular function

Name	Definition
cadherin binding	Binding to cadherin, a type I membrane protein involved in cell adhesion.
kinesin binding	Interacting selectively and non-covalently and stoichiometrically with kinesin, a member of a superfamily of microtubule-based motor proteins that perform force-generating tasks such as organelle transport and chromosome segregation.
RNA binding	Binding to an RNA molecule or a portion thereof.

2 GO annotations of biological process

Name	Definition
microtubule-based movement	A microtubule-based process that results in the movement of organelles, other microtubules, or other cellular components. Examples include motor-driven movement along microtubules and movement driven by polymerization or depolymerization of microtubules.
protein transport	The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.

No homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
No homologous proteins

10	20	30	40	50	60
MEFYESAYFI	VLIPSIVITV	IFLFFWLFMK	ETLYDEVLAK	QKREQKLIPT	KTDKKKAEKK
70	80	90	100	110	120
KNKKKEIQNG	NLHESDSESV	PRDFKLSDAL	AVEDDQVAPV	PLNVVETSSS	VRERKKKEKK
130	140	150	160	170	180
QKPVLEEQVI	KESDASKIPG	KKVEPVPVTK	QPTPPSEAAA	SKKKPGQKKS	KNGSDDQDKK
190	200	210	220	230	240
VETLMVPSKR	QEALPLHQET	KQESGSGKKK	ASSKKQKTEN	VFVDEPLIHA	TTYIPLMDNA
250	260	270	280	290	300
DSSPVVDKRE	VIDLLKPDQV	EGIQKSGTKK	LKTETDKENA	EVKFKDFLLS	LKTMMFSEDE
310	320	330	340	350	360
ALCVVDLLKE	KSGVIQDALK	KSSKGELTTL	IHQLQEKDKL	LAAVKEDAAA	TKDRCKQLTQ
370	380	390	400	410	420
EMMTEKERSN	VVITRMKDRI	GTLEKEHNVF	QNKIHVSYQE	TQQMQMKFQQ	VREQMEAEIA
430	440	450	460	470	480
HLKQENGILR	DAVSNTTNQL	ESKQSAELNK	LRQDYARLVN	ELTEKTGKLQ	QEEVQKKNAE
490	500	510	520	530	540
QAATQLKVQL	QEAERRWEEV	QSYIRKRTAE	HEAAQQDLQS	KFVAKENEVQ	SLHSKLTDTL
550	560	570	580	590	600
VSKQQLEQRL	MQLMESEQKR	VNKEESLQMQ	VQDILEQNEA	LKAQIQQFHS	QIAAQTSASV
610	620	630	640	650	660
LAEELHKVIA	EKDKQIKQTE	DSLASERDRL	TSKEEELKDI	QNMNFLLKAE	VQKLQALANE
670	680	690	700	710	720
QAAAAHELEK	MQQSVYVKDD	KIRLLEEQLQ	HEISNKMEEF	KILNDQNKAL	KSEVQKLQTL
730	740	750	760	770	780
VSEQPNKDVV	EQMEKCIQEK	DEKLKTVEEL	LETGLIQVAT	KEEELNAIRT	ENSSLTKEVQ
790	800	810	820	830	840
DLKAKQNDQV	SFASLVEELK	KVIHEKDGKI	KSVEELLEAE	LLKVANKEKT	VQDLKQEIKA
850	860	870	880	890	900
LKEEIGNVQL	EKAQQLSITS	KVQELQNLLK	GKEEQMNTMK	AVLEEKEKDL	ANTGKWLQDL
910	920	930	940	950	960
QEENESLKAH	VQEVAQHNLK	EASSASQFEE	LEIVLKEKEN	ELKRLEAMLK	ERESDLSSKT
970	980	990	1000	1010	1020
QLLQDVQDEN	KLFKSQIEQL	KQQNYQQASS	FPPHEELLKV	ISEREKEISG	LWNELDSLKD
1030	1040	1050	1060	1070	1080
AVEHQRKKNN	DLREKNWEAM	EALASTEKML	QDKVNKTSKE	RQQQVEAVEL	EAKEVLKKLF
1090	1100	1110	1120	1130	1140
PKVSVPSNLS	YGEWLHGFEK	KAKECMAGTS	GSEEVKVLEH	KLKEADEMHT	LLQLECEKYK
1150	1160	1170	1180	1190	1200
SVLAETEGIL	QKLQRSVEQE	ENKWKVKVDE	SHKTIKQMQS	SFTSSEQELE	RLRSENKDIE
1210	1220	1230	1240	1250	1260
NLRREREHLE	MELEKAEMER	STYVTEVREL	KDLLTELQKK	LDDSYSEAVR	QNEELNLLKA
1270	1280	1290	1300	1310	1320
QLNETLTKLR	TEQNERQKVA	GDLHKAQQSL	ELIQSKIVKA	AGDTTVIENS	DVSPETESSE
1330	1340	1350
KETMSVSLNQ	TVTQLQQLLQ	AVNQQLTKEK	EHYQVLE