AiPD: Autoinhibited Protein Database

Q6P1X5

Gene name	TAF2 (CIF150, TAF2B)
Protein name	Transcription initiation factor TFIID subunit 2
Names	150 kDa cofactor of initiator function, RNA polymerase II TBP-associated factor subunit B, TBP-associated factor 150 kDa, Transcription initiation factor TFIID 150 kDa subunit, TAF(II)150, TAFII-150, TAFII150
Species	Homo sapiens (Human)
KEGG Pathway	hsa:6873
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1054-1131 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1054-1131 (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

29 structures for Q6P1X5

Entry ID	Method	Resolution	Chain	Position	Source
5FUR	EM	850 A	I	1-1199	PDB
6MZC	EM	450 A	B	1-1199	PDB
6MZL	EM	2300 A	B	1-1199	PDB
6MZM	EM	750 A	B	1-1199	PDB
7EDX	EM	450 A	B	1-1199	PDB
7EG7	EM	620 A	B	1-1199	PDB
7EG8	EM	740 A	B	1-1199	PDB
7EG9	EM	370 A	B	1-1199	PDB
7EGA	EM	410 A	B	1-1199	PDB
7EGB	EM	330 A	B	1-1199	PDB
7EGC	EM	390 A	B	1-1199	PDB
7EGD	EM	675 A	B	1-1199	PDB
7EGE	EM	900 A	B	1-1199	PDB
7EGH	EM	304 A	B	1-1199	PDB
7EGI	EM	982 A	B	1-1199	PDB
7EGJ	EM	864 A	B	1-1199	PDB
7ENA	EM	407 A	DB	1-1199	PDB
7ENC	EM	413 A	DB	1-1199	PDB
8GXQ	EM	504 A	DB	1-1199	PDB
8GXS	EM	416 A	DB	1-1199	PDB
8WAK	EM	547 A	B	1-1199	PDB
8WAL	EM	852 A	B	1-1199	PDB
8WAN	EM	607 A	B	1-1199	PDB
8WAO	EM	640 A	B	1-1199	PDB
8WAP	EM	585 A	B	1-1199	PDB
8WAQ	EM	629 A	B	1-1199	PDB
8WAR	EM	720 A	B	1-1199	PDB
8WAS	EM	613 A	B	1-1199	PDB
AF-Q6P1X5-F1	Predicted				AlphaFoldDB

747 variants for Q6P1X5

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA4857623 rs112002462 RCV000954119 RCV001336547 RCV000502851	53	I>V	Microcephaly-thin corpus callosum-intellectual disability syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA145591 RCV000077874 rs398124656 RCV000999064 VAR_070945	186	T>R	Microcephaly-thin corpus callosum-intellectual disability syndrome NEDFCF; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP
RCV000077873 RCV000999063 CA145589 VAR_070946 rs398124655	416	P>H	Microcephaly-thin corpus callosum-intellectual disability syndrome NEDFCF; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs149772375 RCV000971766 RCV000504470 RCV002506230 CA4857255	552	Y>F	Microcephaly-thin corpus callosum-intellectual disability syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA145587 rs398124645 VAR_070947 RCV000077872	649	W>R	Microcephaly-thin corpus callosum-intellectual disability syndrome NEDFCF [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000824867 rs750451843 CA4857059 RCV001856260	844	P>L	Microcephaly-thin corpus callosum-intellectual disability syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP
RCV001252786 rs142223051 CA4856922	982	S>T	Microcephaly [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV002524306 RCV002527296 rs755785500 CA4856786 RCV000502965	1160	K>Q	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs982790632 CA184366996	2	P>R		No	ClinGen Ensembl
CA371896963 rs1390812009	2	P>S		No	ClinGen gnomAD
rs762078987 CA4857673	3	L>V		No	ClinGen ExAC gnomAD
rs774618794 CA4857672	4	T>A		No	ClinGen ExAC gnomAD
rs1381816864 CA371896941	6	V>G		No	ClinGen gnomAD
CA371896932 rs1439488432	7	E>D		No	ClinGen gnomAD
CA4857669 rs17818842 VAR_027854	8	P>L		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP
CA4857670 rs749383076	8	P>S		No	ClinGen ExAC gnomAD
CA4857667 rs745831299	9	A>T		No	ClinGen ExAC gnomAD
TCGA novel	10	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA371896920 rs1563938285	10	R>K		No	ClinGen Ensembl
CA371896916 rs1266727176	10	R>S		No	ClinGen gnomAD
CA371896894 rs1287037709	13	R>M		No	ClinGen gnomAD
rs1240528812 CA371896892	13	R>S		No	ClinGen gnomAD
CA371896879 rs1277616011	15	K>R		No	ClinGen gnomAD
CA371896872 rs1474323855	16	G>E		No	ClinGen TOPMed
rs1050963209 CA184366947	16	G>R		No	ClinGen TOPMed
CA371896870 rs1331650146	17	D>N		No	ClinGen TOPMed gnomAD
CA4857664 rs757060271	19	G>V		No	ClinGen ExAC gnomAD
COSM4150495 COSM4150494 rs1384595176 CA371896827	22	S>R	ovary [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1362005986 CA371896823	23	P>S		No	ClinGen gnomAD
rs932501620 CA184366940	25	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA4857661 rs372259229	26	Y>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1041330286 CA184366929	27	K>T		No	ClinGen gnomAD
CA371896767 rs1285606832	30	H>Y		No	ClinGen gnomAD
CA371896745 rs1340243028	33	V>F		No	ClinGen TOPMed gnomAD
COSM3698810 COSM3698811 CA371896747 rs1340243028	33	V>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs758160783 CA4857642	35	I>V		No	ClinGen ExAC TOPMed gnomAD
rs747846215 CA4857641	36	N>S		No	ClinGen ExAC gnomAD
CA4857640 rs778469602	37	N>K		No	ClinGen ExAC gnomAD
CA4857639 rs754509806	42	R>K		No	ClinGen ExAC TOPMed gnomAD
CA371896672 rs1194859687	43	K>R		No	ClinGen TOPMed
TCGA novel	47	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1462288948 CA371896235	48	F>S		No	ClinGen TOPMed
CA184359752 rs377549600	50	E>Q		No	ClinGen ESP
CA184359747 rs747142841	52	T>N		No	ClinGen TOPMed gnomAD
CA371896195 rs747142841	52	T>S		No	ClinGen TOPMed gnomAD
CA371896167 rs1563924567	55	P>S		No	ClinGen Ensembl
rs778430433 CA4857622	56	T>A		No	ClinGen ExAC gnomAD
CA371896143 rs1450637122	57	V>A		No	ClinGen gnomAD
CA371896147 rs1450637122	57	V>G		No	ClinGen gnomAD
CA371896152 rs1221701000	57	V>I		No	ClinGen gnomAD
rs1289159735 CA371896141	58	A>T		No	ClinGen gnomAD
CA4857621 rs754450263	59	N>D		No	ClinGen ExAC gnomAD
rs1354864771 CA371896115	60	L>W		No	ClinGen gnomAD
rs748767830 CA4857620	61	N>H		No	ClinGen ExAC gnomAD
rs781693847 CA4857619	66	N>K		No	ClinGen ExAC gnomAD
rs1294143555 CA371896034	67	S>R		No	ClinGen gnomAD
rs1563924502 CA371896026	68	K>R		No	ClinGen Ensembl
rs772241833 CA184359722	73	Y>H		No	ClinGen Ensembl
rs567550422 CA184359714	74	R>*		No	ClinGen TOPMed gnomAD
CA4857618 COSM1095563 rs374201801 COSM1095565	74	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs752108413 CA4857617	76	R>G		No	ClinGen ExAC gnomAD
CA371895950 rs1420612591	76	R>K		No	ClinGen gnomAD
rs371101226 CA4857616	78	N>S		No	ClinGen ESP ExAC gnomAD
CA371895914 rs1158167237	79	D>Y		No	ClinGen gnomAD
CA4857613 rs765393580	83	A>G		No	ClinGen ExAC gnomAD
rs147056584 CA4857612	85	I>F		No	ClinGen ExAC gnomAD
CA371895848 rs1266237571	85	I>N		No	ClinGen gnomAD
rs1488443557 CA371895804	89	P>A		No	ClinGen TOPMed gnomAD
rs1488443557 CA371895802	89	P>S		No	ClinGen TOPMed gnomAD
rs531974301 CA4857610	90	T>I		No	ClinGen 1000Genomes ExAC gnomAD
rs974507041 CA184359662	96	S>G		No	ClinGen TOPMed gnomAD
rs773346696 CA4857609	97	E>D		No	ClinGen ExAC gnomAD
CA371895682 rs1244524344	100	Q>*		No	ClinGen TOPMed
rs1381058546 CA371894830	101	R>S		No	ClinGen gnomAD
CA371894808 rs1303265724	103	L>F		No	ClinGen TOPMed gnomAD
rs1303265724 CA371894809	103	L>V		No	ClinGen TOPMed gnomAD
rs761625333 CA4857584	104	N>S		No	ClinGen ExAC gnomAD
CA371894779 rs1414951358	105	Y>*		No	ClinGen TOPMed
CA4857583 rs542084457	108	N>S		No	ClinGen ExAC TOPMed gnomAD
CA371894684 rs1372073019	112	A>G		No	ClinGen gnomAD
rs775280137 CA4857580	114	V>I		No	ClinGen ExAC gnomAD
TCGA novel	117	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	118	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200684456 CA184349872	120	D>N		No	ClinGen 1000Genomes
rs1240587415 CA371894562	124	G>R		No	ClinGen gnomAD
rs778205035 CA4857575	125	E>K		No	ClinGen ExAC gnomAD
rs1317372856 CA371894493	128	I>V		No	ClinGen TOPMed gnomAD
CA371894463 rs1247236363	130	V>A		No	ClinGen gnomAD
rs1397184618 CA371894465	130	V>F		No	ClinGen TOPMed gnomAD
rs1397184618 CA371894468	130	V>I		No	ClinGen TOPMed gnomAD
rs557455884 CA4857574	135	W>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA371894327 rs1380412217	137	H>R		No	ClinGen gnomAD
CA4857572 rs779129266	138	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1331494297 CA371894298	139	D>G		No	ClinGen TOPMed
CA4857552 rs148745940	140	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA371893692 rs780379532	147	H>D		No	ClinGen ExAC TOPMed gnomAD
CA4857551 rs780379532	147	H>N		No	ClinGen ExAC TOPMed gnomAD
CA371893674 rs1180988840	149	N>S		No	ClinGen TOPMed
TCGA novel	150	F>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA371893657 rs1381475633	151	S>F		No	ClinGen TOPMed
CA371893649 rs1454272951	153	D>N		No	ClinGen TOPMed
rs756370981 CA4857550	154	Q>P		No	ClinGen ExAC gnomAD
CA371893638 rs756370981	154	Q>R		No	ClinGen ExAC gnomAD
CA371893629 rs1489420701	155	P>L		No	ClinGen gnomAD
CA4857549 rs201478549	156	K>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4857548 rs781407264	157	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1467230160 CA371893615	158	G>R		No	ClinGen TOPMed
CA4857547 rs757423725	160	H>R		No	ClinGen ExAC gnomAD
CA371893589 rs1395087372	162	V>M		No	ClinGen TOPMed
CA4857545 RCV000892871 rs200354353	165	S>N		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1282145250 CA371893555	167	E>A		No	ClinGen gnomAD
TCGA novel	167	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	169	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs901743510 CA184347834	171	A>V		No	ClinGen TOPMed
CA4857542 rs752522938	172	E>D		No	ClinGen ExAC gnomAD
TCGA novel	174	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA184347821 rs780621880	178	F>I		No	ClinGen Ensembl
CA184347816 rs1040279926	179	S>C		No	ClinGen Ensembl
CA4857541 rs765059944	182	Y>H		No	ClinGen ExAC gnomAD
CA371893441 rs1428655929	184	N>H		No	ClinGen gnomAD
TCGA novel	184	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs149614098 CA4857539	185	S>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA371893424 rs398124656	186	T>I		No	ClinGen TOPMed
rs1242467095 CA371893077	188	F>Y		No	ClinGen gnomAD
rs1365797454 CA371893045	189	W>C		No	ClinGen TOPMed
rs754838328 CA4857522	191	P>R		No	ClinGen ExAC gnomAD
TCGA novel	198	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA371892859 rs1213607388	198	E>K		No	ClinGen gnomAD
rs934338008 CA184341813	201	T>I		No	ClinGen TOPMed gnomAD
CA371892780 rs1295782447	201	T>P		No	ClinGen TOPMed
TCGA novel	203	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4857517 rs567187367	206	F>L		No	ClinGen 1000Genomes ExAC gnomAD
CA371892577 rs1328318843	207	T>R		No	ClinGen gnomAD
rs766982842 CA4857516	208	V>I		No	ClinGen ExAC gnomAD
rs1416255890 CA371892527	209	D>G		No	ClinGen gnomAD
TCGA novel	210	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	212	M>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4857515 rs763538811	212	M>V		No	ClinGen ExAC TOPMed gnomAD
rs369932063 CA4857514	213	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs76069992 CA184341751	220	L>F		No	ClinGen Ensembl
CA184341733 rs750771820	222	E>D		No	ClinGen TOPMed
CA4857512 rs759992388	222	E>K		No	ClinGen ExAC gnomAD
rs776669402 CA4857511	223	T>A		No	ClinGen ExAC TOPMed gnomAD
CA184341723 rs533938349	224	V>A		No	ClinGen 1000Genomes TOPMed gnomAD
rs1187378696 CA371892049	230	R>K		No	ClinGen TOPMed
CA371892000 rs1586480530	232	K>N		No	ClinGen Ensembl
rs377226975 CA184341698 CA4857506	234	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA371891939 rs1374732103	235	H>R		No	ClinGen gnomAD
rs752922258 CA184341685	237	M>V		No	ClinGen gnomAD
TCGA novel	238	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1440124966 CA371891883	239	T>N		No	ClinGen gnomAD
rs369525246 CA371891878	240	I>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4857505 rs369525246	240	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4857503 rs753661461	242	T>A		No	ClinGen ExAC
CA184341674 rs983221604	243	A>T		No	ClinGen TOPMed
CA4857501 rs367888265 COSM78606 COSM1454545	244	A>V	ovary large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC gnomAD
rs1441427712 CA371891809	246	N>D		No	ClinGen gnomAD
rs767047889 CA4857499	248	S>C		No	ClinGen ExAC TOPMed gnomAD
rs767047889 CA371891773	248	S>F		No	ClinGen ExAC TOPMed gnomAD
CA4857495 rs138515082	250	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA4857493 rs771251389	251	I>V		No	ClinGen ExAC TOPMed gnomAD
rs773376250 CA4857490	260	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA184341645 rs768061005	263	H>L		No	ClinGen Ensembl
TCGA novel	263	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA371890943 rs1344198100	265	V>F		No	ClinGen TOPMed
rs1451182352 CA371890932	267	H>D		No	ClinGen TOPMed
rs766765578 CA4857474	267	H>R		No	ClinGen ExAC gnomAD
rs760954829 CA4857473	269	C>R		No	ClinGen ExAC gnomAD
CA371890915 rs1408237414	269	C>Y		No	ClinGen gnomAD
CA371890900 COSM749552 rs1290059635 COSM749551	271	P>R	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1176444886 CA371890904	271	P>S		No	ClinGen gnomAD
CA4857471 rs762058128	272	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs995468267 CA184339738	272	Q>K		No	ClinGen TOPMed
CA371890886 rs1172065872	274	L>F		No	ClinGen gnomAD
rs1185177249 CA371890859	278	K>R		No	ClinGen gnomAD
CA184339719 rs898060514	279	H>R		No	ClinGen TOPMed
CA4857467 rs749241733	281	T>A		No	ClinGen ExAC gnomAD
rs1460034884 CA371890824	283	Y>*		No	ClinGen gnomAD
TCGA novel	283	Y>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA371890820 rs1233619534	284	L>F		No	ClinGen TOPMed
rs1287520691 CA371890816	285	H>Y		No	ClinGen TOPMed
rs1563894925 CA371890766	291	Y>C		No	ClinGen Ensembl
rs1315282855 CA371890760	292	E>*		No	ClinGen TOPMed
CA4857464 rs371379757	293	E>D		No	ClinGen ESP ExAC gnomAD
rs780951846 CA4857463	295	L>F		No	ClinGen ExAC gnomAD
rs1212600271 CA371890716	297	C>R		No	ClinGen gnomAD
rs756939412 CA4857462	298	R>C		No	ClinGen ExAC gnomAD
CA371890672 rs1162627359	300	P>R		No	ClinGen gnomAD
rs1476157767 CA371890604	306	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1009014537 CA184339684	307	V>A		No	ClinGen TOPMed
rs777358029 CA4857460	309	I>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	311	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs546728927 CA371890523	313	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs546728927 CA4857459	313	Y>F		No	ClinGen ExAC TOPMed gnomAD
rs766849988 CA4857457	314	V>I		No	ClinGen ExAC gnomAD
rs1563894722 CA371890498	315	E>A		No	ClinGen Ensembl
rs750717785 CA4857455	317	A>S		No	ClinGen ExAC TOPMed gnomAD
rs750717785 CA4857456	317	A>T		No	ClinGen ExAC TOPMed gnomAD
CA4857454 rs767895370	318	A>G		No	ClinGen ExAC gnomAD
TCGA novel	318	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA184339605 rs767895370	318	A>V		No	ClinGen ExAC gnomAD
CA371890464 rs1460410166	319	Y>F		No	ClinGen gnomAD
rs774563468 CA4857452	324	I>V		No	ClinGen ExAC gnomAD
rs1406261832 CA371890387	325	F>I		No	ClinGen TOPMed
TCGA novel	330	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750945535 CA371889762	332	S>I		No	ClinGen ExAC TOPMed gnomAD
CA4857437 rs750945535	332	S>N		No	ClinGen ExAC TOPMed gnomAD
rs781471820 CA4857436	333	A>S		No	ClinGen ExAC TOPMed gnomAD
CA4857435 rs757688210	333	A>V		No	ClinGen ExAC gnomAD
rs1345776042 CA371889739	334	M>V		No	ClinGen gnomAD
rs1586464527 CA371889722	335	I>V		No	ClinGen Ensembl
CA4857434 rs751768583	336	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1387675998 CA584347001	338	E>L		No	ClinGen gnomAD
CA371889636 rs1179454089	339	T>I		No	ClinGen TOPMed
CA184339174 rs866380056	339	T>S		No	ClinGen Ensembl
CA4857433 rs764273586	340	P>S		No	ClinGen ExAC gnomAD
CA184339166 rs199848307	341	L>S		No	ClinGen 1000Genomes
CA4857431 rs752679481	344	R>G		No	ClinGen ExAC gnomAD
CA371889579 COSM72901 rs1440582191	344	R>T	ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA584346999 rs1563893348	345	C>*		No	ClinGen Ensembl
rs765380035 CA4857430	345	C>G		No	ClinGen ExAC TOPMed gnomAD
CA371889561 rs1268468342	345	C>Y		No	ClinGen gnomAD
CA4857427 rs770843380	346	L>F		No	ClinGen ExAC TOPMed
rs759332776 CA4857429	346	L>S		No	ClinGen ExAC TOPMed gnomAD
rs1174782352 CA371889523	347	A>P		No	ClinGen TOPMed
rs1323678321 CA371889471	349	S>Y		No	ClinGen gnomAD
CA371889428 rs1349922208	352	Q>R		No	ClinGen gnomAD
rs1331333483 CA371889361	357	C>G		No	ClinGen TOPMed
rs997756636 CA184338462	366	D>Y		No	ClinGen TOPMed gnomAD
TCGA novel	368	W>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1474957667 CA371888980	369	V>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	371	K>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4857396 rs777941292	375	G>A		No	ClinGen ExAC gnomAD
rs1470208085 CA371888874	375	G>S		No	ClinGen TOPMed gnomAD
CA371888861 rs1487599591	376	Y>C		No	ClinGen TOPMed
CA4857395 rs758792791	377	I>M		No	ClinGen ExAC gnomAD
TCGA novel	378	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4857392 rs755083809	381	W>C		No	ClinGen ExAC gnomAD
CA4857393 rs779251380	381	W>R		No	ClinGen ExAC TOPMed gnomAD
CA184338429 rs140756954	382	M>V		No	ClinGen ESP TOPMed gnomAD
TCGA novel	384	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs199770394 CA184338423	385	T>P		No	ClinGen Ensembl
rs767182511 CA4857389	386	F>L		No	ClinGen ExAC TOPMed gnomAD
rs754007710 CA4857390	386	F>S		No	ClinGen ExAC gnomAD
CA4857387 rs750383401	387	G>S		No	ClinGen ExAC gnomAD
rs1317670681 CA371888582	389	N>K		No	ClinGen gnomAD
COSM1313676 COSM1313675 CA4857386 rs759203205	390	E>D	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA371888567 rs1163597579	391	Y>N		No	ClinGen TOPMed
rs1586460193 CA371888562	391	Y>S		No	ClinGen Ensembl
CA4857385 rs761727538	392	R>C		No	ClinGen ExAC gnomAD
rs773854593 COSM1095541 CA4857384 COSM1095539	392	R>H	endometrium haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs763778739 CA4857383	393	H>R		No	ClinGen ExAC gnomAD
rs1355253733 CA371888491	395	I>V		No	ClinGen gnomAD
CA371888473 rs1470735006	396	K>R		No	ClinGen Ensembl
CA4857359 rs535528761	398	E>G		No	ClinGen 1000Genomes ExAC gnomAD
rs112364549 CA184337045	400	D>G		No	ClinGen Ensembl
rs568435208 CA4857357	401	K>T		No	ClinGen 1000Genomes ExAC gnomAD
rs773568004 CA4857356	404	A>T		No	ClinGen ExAC gnomAD
CA4857355 rs772671995	405	Y>F		No	ClinGen ExAC gnomAD
TCGA novel	406	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4857354 rs762253354	407	L>P		No	ClinGen ExAC TOPMed gnomAD
rs774725514 CA4857353	409	T>A		No	ClinGen ExAC gnomAD
rs960227237 CA184337028	409	T>I		No	ClinGen TOPMed
TCGA novel	409	T>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1330956587 CA371887740	410	G>V		No	ClinGen TOPMed
rs780483670 COSM3833951 CA4857350 COSM3833950	412	V>I	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA4857349 rs150958849	413	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA371887518 rs1250629222	418	F>L		No	ClinGen TOPMed
rs1291614666 CA371887567	418	F>L		No	ClinGen gnomAD
rs200122709 CA4857346	419	G>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs61753748 CA4857345	421	G>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1319234795 CA371887362	423	E>Q		No	ClinGen gnomAD
TCGA novel	423	E>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA184336993 rs904093236	425	D>G		No	ClinGen Ensembl
rs1430864618 CA371887256	425	D>N		No	ClinGen gnomAD
rs746100564 CA4857328	427	P>L		No	ClinGen ExAC TOPMed gnomAD
CA184336083 rs1021886870	428	A>V		No	ClinGen TOPMed gnomAD
CA371886949 rs1390012045	429	S>F		No	ClinGen gnomAD
rs1447023077 CA371886941	430	H>R		No	ClinGen gnomAD
rs1187205336 CA371886943	430	H>Y		No	ClinGen gnomAD
CA371886904 rs1199965661	432	H>R		No	ClinGen gnomAD
CA371886791 rs1253303215	438	P>T		No	ClinGen gnomAD
CA371886763 rs1307836025	439	H>Y		No	ClinGen gnomAD
CA371886734 rs1226030601	440	T>A		No	ClinGen gnomAD
rs746962256 CA4857325	440	T>I		No	ClinGen ExAC TOPMed gnomAD
rs778709665 CA4857321	441	L>V		No	ClinGen ExAC gnomAD
rs760553372 CA184336059	447	S>C		No	ClinGen Ensembl
rs9297605 CA184336056	447	S>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA371886638 rs9297605	447	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs9297605 VAR_027855 CA4857318	447	S>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs752092538 CA4857316	448	M>V		No	ClinGen ExAC gnomAD
rs764740775 CA4857315	449	F>L		No	ClinGen ExAC gnomAD
rs865938257 CA184336044	450	Q>*		No	ClinGen Ensembl
CA371886573 rs1386426762	450	Q>R		No	ClinGen gnomAD
rs1346808658 CA371886526	452	K>E		No	ClinGen TOPMed
TCGA novel	454	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA184336038 rs1033614255	455	L>F		No	ClinGen Ensembl
CA371886368 rs1186847315	459	L>F		No	ClinGen gnomAD
rs1003528328 CA184336029	460	I>T		No	ClinGen TOPMed gnomAD
CA371886358 rs1200802948	460	I>V		No	ClinGen TOPMed
CA4857314 rs763587280	463	R>K		No	ClinGen ExAC gnomAD
TCGA novel	463	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1482869581 CA371886199	466	M>R		No	ClinGen gnomAD
CA4857312 rs765533754	466	M>V		No	ClinGen ExAC
TCGA novel	469	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	475	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1261925160 CA584345421	475	K>T		No	ClinGen gnomAD
rs1034601812 CA184335125	477	L>V		No	ClinGen Ensembl
CA371885100 rs1378529437	481	S>G		No	ClinGen gnomAD
CA371885046 rs1225030482	482	T>I		No	ClinGen gnomAD
rs1323346294 CA371884816	490	S>*		No	ClinGen gnomAD
CA4857292 rs200339943	494	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1417826238 CA371884652	495	Q>H		No	ClinGen gnomAD
rs140625685 CA4857291	496	M>L		No	ClinGen ESP ExAC gnomAD
rs760915209 CA4857290	500	T>S		No	ClinGen ExAC
rs1253371615 CA371884372	504	L>F		No	ClinGen TOPMed gnomAD
CA371884195 rs1563881601	514	D>G		No	ClinGen Ensembl
RCV000731942 rs774216372 CA4857286	517	P>L		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA371884142 rs1377952559	517	P>S		No	ClinGen gnomAD
CA371884109 rs1263769704	519	I>V		No	ClinGen gnomAD
rs558273652 CA4857284	523	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4857265 rs768440893	524	D>H		No	ClinGen ExAC gnomAD
rs1340020264 CA371883533	525	Q>P		No	ClinGen gnomAD
CA371883495 rs1398328920	527	G>E		No	ClinGen gnomAD
rs762971967 CA4857264	527	G>R		No	ClinGen ExAC gnomAD
CA4857263 rs775091933	532	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs1428961010 CA371883401	533	G>E		No	ClinGen gnomAD
CA184334526 rs973112153	535	F>S		No	ClinGen Ensembl
CA184334523 rs796548442	536	A>S		No	ClinGen Ensembl
rs745511347 CA4857261	536	A>V		No	ClinGen ExAC gnomAD
COSM1228433 rs781047783 CA4857260 COSM1228434	541	R>*	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs374362595 CA4857259	543	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA4857257 rs777373537	550	Q>R		No	ClinGen ExAC gnomAD
rs1204910856 CA371883164	551	D>N		No	ClinGen gnomAD
rs149772375 CA4857256	552	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1267366 CA4857254 rs140302667 COSM1267365	553	T>A	oesophagus [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs1278861652 CA371883134	553	T>R		No	ClinGen TOPMed
CA4857252 rs201601816	555	P>A		No	ClinGen 1000Genomes ExAC gnomAD
CA371883107 rs1586438703	556	G>*		No	ClinGen Ensembl
CA184334471 rs890364137	557	T>A		No	ClinGen gnomAD
rs971616240 CA184334467	558	Q>E		No	ClinGen TOPMed
CA4857250 rs762057882	561	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	568	V>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	573	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201714849 CA4857229	574	S>A		No	ClinGen ExAC gnomAD
CA184334146 rs866911314	574	S>F		No	ClinGen Ensembl
rs757364126 CA4857228	576	N>K		No	ClinGen ExAC gnomAD
CA371882770 rs1218625747	576	N>S		No	ClinGen gnomAD
rs1207012176 CA371882748	578	T>A		No	ClinGen gnomAD
rs376249137 CA184334132	578	T>I		No	ClinGen ESP TOPMed
CA371882660 rs1586437066	583	E>G		No	ClinGen Ensembl
TCGA novel	604	I>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1296139492 CA371881823	605	P>L		No	ClinGen gnomAD
CA371881803 rs1383586798	607	M>K		No	ClinGen gnomAD
TCGA novel	611	E>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4857211 rs781469755	613	D>A		No	ClinGen ExAC gnomAD
CA371881597 rs1465268474	615	D>G		No	ClinGen gnomAD
CA371881582 rs1357744707	616	L>V		No	ClinGen gnomAD
rs376673856 CA4857209	617	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs777182415 CA4857190	622	D>N		No	ClinGen ExAC gnomAD
rs981866885 CA184330786	626	L>Q		No	ClinGen TOPMed
rs1250848538 CA371881097	629	R>K		No	ClinGen gnomAD
rs747438897 CA4857188	630	I>V		No	ClinGen ExAC gnomAD
CA184330769 rs892908667	633	D>G		No	ClinGen Ensembl
CA184330770 rs970468970	633	D>H		No	ClinGen TOPMed
rs1489435826 CA371880983	634	M>I		No	ClinGen gnomAD
rs897141464 CA184330768	635	S>*		No	ClinGen Ensembl
rs1265454794 CA371880923	636	V>A		No	ClinGen gnomAD
rs1001406463 CA184330760	637	L>F		No	ClinGen Ensembl
rs1056020265 CA371880918	637	L>M		No	ClinGen TOPMed gnomAD
rs778027830 CA4857187	637	L>W		No	ClinGen ExAC gnomAD
CA371880860 rs772288165	639	K>R		No	ClinGen ExAC gnomAD
CA4857186 rs772288165	639	K>T		No	ClinGen ExAC gnomAD
CA371880849 rs1586423615	640	V>G		No	ClinGen Ensembl
CA371880854 rs1338124949	640	V>I		No	ClinGen TOPMed gnomAD
rs1351455147 CA371880793	642	F>Y		No	ClinGen TOPMed
CA371880746 rs1563872298	644	Q>P		No	ClinGen Ensembl
CA184330738 rs907035002	645	A>S		No	ClinGen Ensembl
TCGA novel	648	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4857184 rs779065104	649	W>C		No	ClinGen ExAC gnomAD
CA371880654 rs1306602704	650	Q>H		No	ClinGen gnomAD
rs1586423493 CA918353186	651	Y>F		No	ClinGen Ensembl
rs61756214 CA184330709	654	R>C		No	ClinGen TOPMed
CA4857181 rs780085912	654	R>H		No	ClinGen ExAC gnomAD
CA846423422 rs1278753082	655	Y>*		No	ClinGen TOPMed
rs1201609908 CA371880596	655	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA371880559 rs1390983127	658	D>G		No	ClinGen gnomAD
CA4857179 rs750185590	658	D>H		No	ClinGen ExAC gnomAD
rs1390983127 CA371880558	658	D>V		No	ClinGen gnomAD
rs1179409094 CA371880479	665	S>Y		No	ClinGen TOPMed gnomAD
rs1434767624 CA371880466	666	I>N		No	ClinGen gnomAD
rs767234196 CA4857177	668	A>V		No	ClinGen ExAC TOPMed gnomAD
CA4857176 rs761391777	671	K>E		No	ClinGen ExAC gnomAD
rs751281240 CA4857174	672	F>Y		No	ClinGen ExAC TOPMed gnomAD
rs1328078717 CA371880386	673	P>L		No	ClinGen gnomAD
rs763580911 CA4857173	673	P>S		No	ClinGen ExAC TOPMed gnomAD
CA371880382 rs1173183265	674	T>A		No	ClinGen TOPMed
rs1278091011 CA371880372	675	P>A		No	ClinGen gnomAD
rs776974444 CA4857171	678	R>Q	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA371880331 rs1385628382	679	L>P		No	ClinGen gnomAD
rs552471022 CA4857170	681	L>F		No	ClinGen 1000Genomes ExAC gnomAD
rs761106540 CA4857169	682	T>P		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	683	D>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1386731609 CA371880279	684	I>T		No	ClinGen gnomAD
CA4857168 rs773568492	684	I>V		No	ClinGen ExAC gnomAD
CA184330659 VAR_057263 rs34154779	686	E>K		No	ClinGen UniProt Ensembl dbSNP
CA371880249 rs1310383681	687	Q>*		No	ClinGen TOPMed
rs772328280 CA4857167	692	Y>C		No	ClinGen ExAC gnomAD
rs779332559 CA4857165	693	R>I		No	ClinGen ExAC gnomAD
rs768831839 CA4857164	696	M>I		No	ClinGen ExAC gnomAD
CA184330636 rs1016554125	698	A>V		No	ClinGen TOPMed gnomAD
CA4857162 rs780022380	700	F>C		No	ClinGen ExAC TOPMed gnomAD
CA4857161 rs760176798	701	C>S		No	ClinGen ExAC gnomAD
rs371741770 CA184330614	703	A>V		No	ClinGen ESP TOPMed
rs775167911 CA4857160	704	K>E		No	ClinGen ExAC TOPMed gnomAD
CA371879975 rs1275127701	704	K>T		No	ClinGen TOPMed
rs568470659 CA184329122	707	N>D		No	ClinGen TOPMed gnomAD
rs568470659 CA371879468	707	N>H		No	ClinGen TOPMed gnomAD
CA371879447 rs1311976296	708	S>P		No	ClinGen gnomAD
CA4857144 rs192415229	711	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA371879393 rs192415229	711	S>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs746768342 CA4857139	718	A>G		No	ClinGen ExAC gnomAD
TCGA novel	719	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA371879193 rs1303975386	720	K>N		No	ClinGen TOPMed
CA371879174 rs1364386706	723	F>I		No	ClinGen TOPMed
rs1224919532 CA371879132	725	R>T		No	ClinGen TOPMed
CA184329074 rs1026495699	726	M>R		No	ClinGen TOPMed gnomAD
CA371879114 rs1026495699	726	M>T		No	ClinGen TOPMed gnomAD
CA4857138 rs777564413	728	C>R		No	ClinGen ExAC TOPMed gnomAD
rs141910559 CA4857137	729	C>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA371878999 rs1253039395	731	S>N		No	ClinGen gnomAD
CA4857134 rs764798888	735	I>V		No	ClinGen ExAC gnomAD
rs963693077 CA184329047	738	T>R		No	ClinGen Ensembl
rs768176043 CA371878813	741	F>L		No	ClinGen ExAC gnomAD
CA371878793 rs1230503046	742	M>I		No	ClinGen gnomAD
CA371878776 rs1352052466	743	S>R		No	ClinGen gnomAD
CA184329028 rs1041976738	747	Y>C		No	ClinGen TOPMed
CA4857129 rs774802011	748	F>L		No	ClinGen ExAC gnomAD
rs1427290466 CA371878651	749	L>P		No	ClinGen TOPMed
rs1399313121 CA371877837	753	M>I		No	ClinGen gnomAD
rs962626896 CA184326754	753	M>T		No	ClinGen TOPMed
CA371877842 rs1158012433	753	M>V		No	ClinGen gnomAD
TCGA novel	754	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4857106 rs752182474	756	A>G		No	ClinGen ExAC
CA371877812 rs1190833935	757	M>I		No	ClinGen TOPMed
rs1192237770 CA371877817	757	M>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA4857105 rs764544510	762	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1190595799 CA371877743	763	V>A		No	ClinGen gnomAD
rs1465453067 CA371877738	764	H>Y		No	ClinGen gnomAD
rs1247625033 CA371877725	765	N>K		No	ClinGen gnomAD
CA184326724 rs1053813179	765	N>S		No	ClinGen Ensembl
rs752933531 CA4857103	768	P>A		No	ClinGen ExAC gnomAD
CA4857104 rs752933531	768	P>S		No	ClinGen ExAC gnomAD
rs1314876996 CA371877667	770	E>G		No	ClinGen TOPMed gnomAD
CA4857102 rs142215056	773	T>I		No	ClinGen ESP ExAC gnomAD
rs776632277 CA4857100	776	L>*		No	ClinGen ExAC gnomAD
rs1173198760 CA371877597	777	D>Y		No	ClinGen TOPMed gnomAD
CA371877520 rs1360169822	781	Y>C		No	ClinGen TOPMed
rs1554647315 CA371877467	783	D>E		No	ClinGen Ensembl
TCGA novel	786	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4857097 rs760600645	787	N>T		No	ClinGen ExAC TOPMed gnomAD
CA4857095 rs773190821	788	K>M		No	ClinGen ExAC gnomAD
TCGA novel	789	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA371894361 rs1374075822	791	D>V		No	ClinGen gnomAD
rs1277325654 CA371894318	793	Y>C		No	ClinGen TOPMed
rs766433110 CA4857079	795	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1372527391 CA371894304	795	R>S		No	ClinGen gnomAD
rs1425713518 CA371894263	798	M>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA184352208 rs1042785052	799	I>T		No	ClinGen gnomAD
rs760788674 CA4857078	800	D>E		No	ClinGen ExAC gnomAD
CA4857075 rs761829674	804	N>S		No	ClinGen ExAC TOPMed gnomAD
CA4857074 rs773952653	807	T>I		No	ClinGen ExAC TOPMed gnomAD
CA371894201 rs768565194	808	P>L		No	ClinGen ExAC gnomAD
CA4857073 rs768565194	808	P>R		No	ClinGen ExAC gnomAD
TCGA novel	811	S>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1231171471 CA371894166	812	V>A		No	ClinGen gnomAD
rs1290621180 CA371894143	814	N>D		No	ClinGen gnomAD
CA371894127 rs1355953860	814	N>K		No	ClinGen TOPMed
TCGA novel	815	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA371894080 rs1586353665	818	T>S		No	ClinGen Ensembl
CA4857068 rs117420905	820	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1271160777 CA371894014	823	N>T		No	ClinGen TOPMed
rs1199882884 CA371893996	824	P>R		No	ClinGen Ensembl
CA4857067 rs780778719	827	R>*		No	ClinGen ExAC gnomAD
rs758776594 CA4857066	827	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA371893946 rs1563842317	829	I>V		No	ClinGen Ensembl
rs992647401 CA184352138	830	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA4857065 rs753250426	831	E>K		No	ClinGen ExAC gnomAD
TCGA novel	832	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779140025 CA4857064	832	E>K		No	ClinGen ExAC gnomAD
rs1474369759 CA371893887	833	I>M		No	ClinGen gnomAD
rs755427733 CA4857063	833	I>V		No	ClinGen ExAC gnomAD
rs1184081612 CA371893878	835	R>G		No	ClinGen gnomAD
CA371893867 rs1563842212	836	F>C		No	ClinGen Ensembl
CA371893870 rs1419520611	836	F>V		No	ClinGen gnomAD
CA371893844 rs1349650672	839	M>T		No	ClinGen gnomAD
rs1175458801 CA371893830	841	K>E		No	ClinGen gnomAD
CA4857060 rs756356304	843	L>F		No	ClinGen ExAC gnomAD
rs750451843 CA371893810	844	P>R		No	ClinGen ExAC TOPMed
CA184352107 rs1021286794	845	S>N		No	ClinGen TOPMed
rs761654305 CA4857056	848	H>Y		No	ClinGen ExAC gnomAD
rs1332238302 CA371893752	851	T>S		No	ClinGen gnomAD
CA4857053 rs762885398	853	S>N		No	ClinGen ExAC gnomAD
rs775370856 CA4857029	854	C>R		No	ClinGen ExAC gnomAD
rs1280214680 CA371893116	856	R>G		No	ClinGen gnomAD
rs954380401 CA184350956	857	A>T		No	ClinGen TOPMed
TCGA novel	857	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	858	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1232788644 CA371893055	858	I>V		No	ClinGen gnomAD
CA371893025 rs1226888583	859	R>Q		No	ClinGen TOPMed gnomAD
CA4857027 COSM1095512 COSM1095514 rs537891410	859	R>W	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA371893023 rs1563839931	860	V>I		No	ClinGen Ensembl
CA184350942 rs149454623	862	Q>H		No	ClinGen ESP
rs1446162774 CA371892960	862	Q>R		No	ClinGen TOPMed
CA371892904 rs1303587910	865	G>*		No	ClinGen TOPMed gnomAD
CA4857024 rs746565380	866	H>R		No	ClinGen ExAC gnomAD
rs1465526552 CA371892769	870	D>E		No	ClinGen TOPMed
CA4857022 rs769101902	872	A>S		No	ClinGen ExAC gnomAD
rs529663299 CA4857021	873	L>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA184350908 rs901706741	873	L>P		No	ClinGen Ensembl
rs780327863 CA4857020	875	K>Q		No	ClinGen ExAC gnomAD
rs199666329 CA184350897	877	Y>H		No	ClinGen Ensembl
CA4857017 rs746057400	888	I>V		No	ClinGen ExAC gnomAD
CA4857016 rs558876985	889	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA4857015 rs757451852	891	L>W		No	ClinGen ExAC gnomAD
CA371892074 rs1399282287	895	V>A		No	ClinGen TOPMed
rs1484325798 CA371892025	897	Y>H		No	ClinGen gnomAD
rs1161839548 CA371891993	898	T>A		No	ClinGen TOPMed
rs747203981 CA4856993	901	D>G		No	ClinGen ExAC gnomAD
CA4856991 rs758606267	903	S>N		No	ClinGen ExAC TOPMed gnomAD
CA4856990 rs137940227	903	S>R		No	ClinGen ExAC TOPMed gnomAD
CA4856989 rs749803836	904	Y>*		No	ClinGen ExAC
rs374659090 CA184349237	904	Y>N		No	ClinGen ESP TOPMed gnomAD
CA371891346 rs1327338632	905	E>A		No	ClinGen gnomAD
TCGA novel	906	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA371891340 rs1396707481	906	E>Q		No	ClinGen TOPMed
rs150316992 CA371891322	908	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	908	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA184349209 rs942733390	909	W>R		No	ClinGen TOPMed gnomAD
rs1162435080 CA371891311	910	L>V		No	ClinGen gnomAD
CA371891304 rs1409237059	911	L>H		No	ClinGen gnomAD
rs753619496 CA4856986	913	M>T		No	ClinGen ExAC gnomAD
CA4856987 rs373917557	913	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA371891286 rs1271208419	914	I>L		No	ClinGen TOPMed
rs760306871 CA4856984	915	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs1212617173 CA371891254	918	P>S		No	ClinGen TOPMed
CA371891249 rs1468135775	919	V>I		No	ClinGen gnomAD
rs1251344553 CA371891235	921	Y>C		No	ClinGen TOPMed gnomAD
rs777064632 CA4856957	924	H>R		No	ClinGen ExAC gnomAD
CA371891189 rs1349926072	926	I>V		No	ClinGen gnomAD
CA4856956 rs766741275	928	N>K		No	ClinGen ExAC gnomAD
CA371891173 rs1313973194	928	N>S		No	ClinGen gnomAD
CA371891147 rs1563833892	932	K>E		No	ClinGen Ensembl
CA4856953 rs773739474	934	P>L		No	ClinGen ExAC TOPMed gnomAD
CA4856952 rs539672539	935	P>S		No	ClinGen 1000Genomes ExAC TOPMed
rs371910702 CA4856950	937	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA4856948 rs749233451	940	M>I		No	ClinGen ExAC
rs768684024 CA4856949	940	M>L		No	ClinGen ExAC gnomAD
CA4856947 rs779899258	942	S>A		No	ClinGen ExAC TOPMed gnomAD
rs756109889 CA4856946	942	S>C		No	ClinGen ExAC gnomAD
CA4856945 rs367705071	943	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1407845299 CA371891055	945	C>*		No	ClinGen gnomAD
rs990837348 CA184347741	945	C>R		No	ClinGen Ensembl
CA184347721 rs960668466	946	N>S		No	ClinGen gnomAD
rs780979691 CA4856944	948	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1034140683 CA184347703	950	V>I		No	ClinGen TOPMed gnomAD
CA371891028 rs1034140683	950	V>L		No	ClinGen TOPMed gnomAD
rs868640542 CA184347683	954	W>*		No	ClinGen Ensembl
rs756840055 CA4856943	956	L>F		No	ClinGen ExAC gnomAD
COSM3432083 rs754337574 CA4856939 CA4856940 COSM3432082	957	M>I	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA4856941 rs763649497	957	M>T		No	ClinGen ExAC TOPMed gnomAD
rs769561398 CA4856928	961	T>I		No	ClinGen ExAC TOPMed gnomAD
CA184342833 rs145973048	962	S>L		No	ClinGen ESP gnomAD
rs780965434 CA4856926	965	W>S		No	ClinGen ExAC TOPMed gnomAD
CA371889114 rs1443302967	968	R>L		No	ClinGen gnomAD
rs1443302967 CA371889118	968	R>Q		No	ClinGen gnomAD
CA4856925 rs770772712	968	R>W	Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1395473582 CA371889102	969	C>Y		No	ClinGen gnomAD
rs1266082077 CA371889080	971	A>P		No	ClinGen gnomAD
CA371889082 rs1266082077	971	A>T		No	ClinGen gnomAD
CA184342809 rs145923430	977	T>A		No	ClinGen 1000Genomes
TCGA novel	977	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs906309743 CA184342798	979	F>S		No	ClinGen TOPMed
CA4856923 rs777328062	980	G>D		No	ClinGen ExAC gnomAD
CA371888913 rs1460696843	980	G>S		No	ClinGen gnomAD
CA184342764 rs947802383	981	L>P		No	ClinGen TOPMed
CA4856921 rs142223051	982	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs778496041 CA4856920	983	R>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs756622257 CA4856919	987	L>I		No	ClinGen ExAC gnomAD
CA371888815 rs1469473561	987	L>S		No	ClinGen gnomAD
rs1253206575 CA371888793	988	P>S		No	ClinGen gnomAD
CA4856918 rs751037632	989	L>W		No	ClinGen ExAC TOPMed gnomAD
rs767978003 CA4856917	991	E>Q		No	ClinGen ExAC gnomAD
rs535043282 CA4856914	994	L>F		No	ClinGen 1000Genomes ExAC gnomAD
rs1399107432 CA371888684	995	V>I		No	ClinGen TOPMed
rs1332828937 CA371888572	1001	K>R		No	ClinGen TOPMed
TCGA novel	1003	A>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA184342734 rs908127203	1003	A>T		No	ClinGen TOPMed gnomAD
CA371888475 rs1325442901	1007	P>S		No	ClinGen gnomAD
CA371888450 rs1439027200	1009	I>V		No	ClinGen gnomAD
rs1229426250 CA371888423	1012	E>G		No	ClinGen gnomAD
rs769931799 CA4856911	1013	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs867188626 CA184342711	1014	V>I		No	ClinGen Ensembl
CA371888401 rs1301033155	1016	G>D		No	ClinGen gnomAD
rs759460103 CA4856910	1016	G>S		No	ClinGen ExAC gnomAD
CA4856909 rs776601539	1019	E>K		No	ClinGen ExAC gnomAD
CA4856908 rs770684711	1020	A>G		No	ClinGen ExAC gnomAD
rs778812763 CA184342703	1021	A>T		No	ClinGen gnomAD
CA4856906 rs777642723	1023	N>K		No	ClinGen ExAC gnomAD
CA4856904 rs142735640	1024	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4856905 rs142735640	1024	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4856903 rs778281393	1025	S>G		No	ClinGen ExAC gnomAD
CA371888330 rs1213697341	1027	H>D		No	ClinGen gnomAD
TCGA novel	1028	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754592049 CA4856901	1030	L>I		No	ClinGen ExAC TOPMed gnomAD
rs1232295379 CA371888308	1030	L>Q		No	ClinGen gnomAD
rs1257611453 CA371888302	1031	V>A		No	ClinGen TOPMed
rs781751061 CA4856899	1031	V>I		No	ClinGen ExAC gnomAD
rs373620738 CA184342674	1032	G>R		No	ClinGen ESP gnomAD
rs942676323 CA184342673	1036	P>R		No	ClinGen Ensembl
rs779726681 CA4856879	1038	S>F		No	ClinGen ExAC gnomAD
rs747619963 CA4856877	1039	S>G		No	ClinGen ExAC gnomAD
CA371886503 rs1349594094	1040	S>F		No	ClinGen TOPMed gnomAD
CA371886499 rs1322000883	1041	Q>*		No	ClinGen gnomAD
CA4856875 rs375287888	1042	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA4856876 rs375287888	1042	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA371886310 rs1409347680	1048	M>T		No	ClinGen TOPMed gnomAD
rs752834699 CA4856874	1049	D>V		No	ClinGen ExAC gnomAD
CA4856873 rs765407382	1050	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1378704460 CA371886247	1052	H>R		No	ClinGen TOPMed
rs753855640 CA4856871	1053	D>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1052219999 CA184341335	1054	S>N		No	ClinGen Ensembl
CA371886117 rs1461981303	1058	I>F		No	ClinGen TOPMed
CA184341324 rs867321698	1059	S>F		No	ClinGen TOPMed
CA4856870 rs766447450	1062	L>*		No	ClinGen ExAC
rs1245263640 CA371885996	1065	L>I		No	ClinGen gnomAD
rs1372733685 CA371885981	1066	E>A		No	ClinGen TOPMed
rs760524439 CA4856869	1066	E>Q		No	ClinGen ExAC gnomAD
CA4856868 rs773259423	1068	P>L		No	ClinGen ExAC TOPMed gnomAD
COSM387940 rs761706814 CA4856866 COSM387941	1069	S>L	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs779111665 CA4856865	1070	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4856864 rs768368050	1070	T>I		No	ClinGen ExAC gnomAD
rs779111665 CA371885933	1070	T>P		No	ClinGen ExAC TOPMed gnomAD
rs1463355661 CA371885330	1073	L>V		No	ClinGen TOPMed
CA4856841 rs776030738	1074	S>L		No	ClinGen ExAC gnomAD
CA4856842 rs776030738	1074	S>W		No	ClinGen ExAC gnomAD
rs1331198724 CA371885281	1075	K>E		No	ClinGen gnomAD
rs376084041 CA4856836	1077	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs769065369 CA4856837	1077	R>W		No	ClinGen ExAC TOPMed gnomAD
CA371885178 rs1232217707	1078	P>L		No	ClinGen gnomAD
rs1338193139 CA371885154	1079	A>V		No	ClinGen gnomAD
COSM749568 rs780363918 COSM749567 CA4856835	1082	R>*	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs780363918 CA371885116	1082	R>G		No	ClinGen ExAC TOPMed gnomAD
CA371885111 COSM129586 rs747453635	1082	R>L	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA4856834 rs747453635	1082	R>P		No	ClinGen ExAC TOPMed gnomAD
CA4856833 rs747453635	1082	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA184340479 rs779580209	1083	S>P		No	ClinGen Ensembl
CA184340475 rs972783970	1084	A>V		No	ClinGen TOPMed gnomAD
rs938558262 CA184340474	1085	L>F		No	ClinGen TOPMed
rs1307727384 CA371885065	1085	L>S		No	ClinGen TOPMed gnomAD
CA371884928 rs1257094455	1088	Q>L		No	ClinGen gnomAD
rs1337472643 CA371884868	1089	H>L		No	ClinGen gnomAD
rs201984633 CA4856832	1090	S>L		No	ClinGen 1000Genomes ExAC
rs757257786 CA4856831	1093	C>Y		No	ClinGen ExAC TOPMed gnomAD
COSM294869 COSM294868 CA371884666 rs1288695761	1097	P>S	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA371884635 rs1391556656	1098	T>I		No	ClinGen TOPMed gnomAD
CA4856829 rs200397588	1098	T>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1336243505 CA371884631	1099	T>A		No	ClinGen TOPMed
CA371884561 rs1399827432	1101	P>S		No	ClinGen gnomAD
rs1233413539 CA371884519	1102	Q>*		No	ClinGen TOPMed
TCGA novel	1105	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752574953 CA4856827	1105	L>W		No	ClinGen ExAC gnomAD
rs1017057603 CA184340462	1107	L>F		No	ClinGen gnomAD
rs546468025 CA4856826	1107	L>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs549411553 CA4856824	1108	A>E		No	ClinGen 1000Genomes ExAC gnomAD
rs983885189 CA184340419	1109	R>Q		No	ClinGen Ensembl
CA4856822 rs527695895 COSM202539 COSM202538	1109	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
COSM1095503 rs774886563 COSM1095505 CA4856821	1110	K>N	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA
CA4856820 rs768975438	1112	T>I		No	ClinGen ExAC gnomAD
rs753489107 CA4856806	1117	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1563804475 CA371882182	1118	P>L		No	ClinGen Ensembl
CA4856805 rs765887427	1120	E>K		No	ClinGen ExAC gnomAD
CA371882151 rs1487731528	1122	S>C		No	ClinGen gnomAD
CA371882148 rs956749	1122	S>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_027856 rs956749 CA4856804	1122	S>N		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA4856803 rs772739868	1122	S>R		No	ClinGen ExAC gnomAD
CA4856802 rs146351425	1125	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs763456509 CA4856801	1125	P>L		No	ClinGen ExAC gnomAD
CA4856799 rs368237103	1126	A>G		No	ClinGen ExAC gnomAD
CA4856800 rs368237103 COSM1095500 COSM1095502	1126	A>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs140155482 CA371882108	1128	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA184336024 rs757687652	1129	A>T		No	ClinGen gnomAD
rs771311772 CA4856796	1129	A>V		No	ClinGen ExAC gnomAD
rs747041065 CA4856794	1130	P>L		No	ClinGen ExAC gnomAD
rs758990593 CA184336010	1131	L>P		No	ClinGen Ensembl
CA371882083 rs1156291272	1133	V>A		No	ClinGen gnomAD
rs758340795 CA4856792	1136	K>E		No	ClinGen ExAC gnomAD
CA371882059 rs1377815378	1137	E>Q		No	ClinGen gnomAD
CA371882051 rs1431754493	1138	S>P		No	ClinGen gnomAD
VAR_027857 rs956748 CA4856791	1139	T>A		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1488255425 CA371882042	1139	T>I		No	ClinGen gnomAD
rs1034156044 CA184335985	1142	K>R		No	ClinGen Ensembl
CA371882007 rs1284573604	1144	S>R		No	ClinGen gnomAD
CA371881986 rs1257441521	1147	H>R		No	ClinGen TOPMed
rs1213100424 CA371881978	1148	H>R		No	ClinGen gnomAD
CA4856790 rs372496863	1150	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA371881958 rs754775582	1151	H>D		No	ClinGen ExAC TOPMed gnomAD
CA4856789 rs754775582	1151	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA184335967 rs997940065	1152	H>Y		No	ClinGen TOPMed
CA4856788 rs375789805	1153	E>D		No	ClinGen ESP ExAC gnomAD
rs1001864002 CA184335941	1154	H>P		No	ClinGen Ensembl
TCGA novel	1154	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA184335939 rs1040031817	1155	K>E		No	ClinGen TOPMed
CA371881839 rs755785500	1160	K>E		No	ClinGen ExAC TOPMed gnomAD
CA371881807 rs749877152	1161	H>P		No	ClinGen ExAC TOPMed gnomAD
CA371881795 rs1447605387	1161	H>Q		No	ClinGen TOPMed
CA4856784 rs749877152	1161	H>R		No	ClinGen ExAC TOPMed gnomAD
rs767081715 CA4856783	1163	H>Y		No	ClinGen ExAC gnomAD
rs1171596279 CA371881633	1167	H>P		No	ClinGen gnomAD
rs763504417 CA4856782	1167	H>Q		No	ClinGen ExAC gnomAD
rs887092967 CA184335892	1169	H>D		No	ClinGen Ensembl
rs1325873664 CA371881584	1169	H>L		No	ClinGen TOPMed
rs775912296 CA4856781	1172	D>A		No	ClinGen ExAC
rs61756215 CA371881517	1172	D>E		No	ClinGen ExAC TOPMed gnomAD
rs759783724 CA4856779	1174	K>R		No	ClinGen ExAC gnomAD
TCGA novel	1175	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777079579 CA4856778	1177	D>N		No	ClinGen ExAC
rs1261613817 CA371881428	1178	K>T		No	ClinGen gnomAD
rs771223878 CA4856777	1179	E>D		No	ClinGen ExAC gnomAD
CA184335874 rs201300393	1180	P>A		No	ClinGen TOPMed gnomAD
CA184335863 rs898673232	1181	F>C		No	ClinGen Ensembl
CA371881354 rs1587627032	1182	T>P		No	ClinGen Ensembl
TCGA novel	1182	T>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1587627003 CA371881331	1183	F>S		No	ClinGen Ensembl
CA184335859 rs1039840663	1184	S>A		No	ClinGen TOPMed gnomAD
CA371881318 rs1039840663	1184	S>P		No	ClinGen TOPMed gnomAD
rs772331768 CA4856774	1185	S>R		No	ClinGen ExAC
CA4856773 rs748094330	1185	S>T		No	ClinGen ExAC gnomAD
rs1218984253 CA371881182	1190	R>G		No	ClinGen gnomAD
rs754973778 CA4856771	1191	S>A		No	ClinGen ExAC gnomAD
rs748986660 CA4856770	1192	I>V		No	ClinGen ExAC gnomAD
rs779836674 CA4856769	1193	R>C		No	ClinGen ExAC TOPMed gnomAD
rs755760670 CA4856768	1193	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1487444064 CA371881093	1194	S>F		No	ClinGen TOPMed
rs750133454 CA4856767	1197	L>F		No	ClinGen ExAC TOPMed gnomAD
CA4856766 rs780660714	1197	L>P		No	ClinGen ExAC gnomAD
CA371881012 rs1331664717	1199	D>A		No	ClinGen gnomAD

1 associated diseases with Q6P1X5

[MIM: 615599]: Neurodevelopmental disorder with feeding difficulties, thin corpus callosum, and foot deformity (NEDFCF)

An autosomal recessive disorder characterized by impaired intellectual development, microcephaly, delayed psychomotor development, pyramidal signs, thin corpus callosum, and foot deformity. {ECO:0000269|PubMed:21937992, ECO:0000269|PubMed:24084144}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

An autosomal recessive disorder characterized by impaired intellectual development, microcephaly, delayed psychomotor development, pyramidal signs, thin corpus callosum, and foot deformity. {ECO:0000269|PubMed:21937992, ECO:0000269|PubMed:24084144}. Note=The disease is caused by variants affecting the gene represented in this entry.

No regional properties for Q6P1X5

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q6P1X5

Functions

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

4 GO annotations of cellular component

Name	Definition
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
transcription factor TFIID complex	A complex composed of TATA binding protein (TBP) and TBP associated factors (TAFs); the total mass is typically about 800 kDa. Most of the TAFs are conserved across species. In TATA-containing promoters for RNA polymerase II (Pol II), TFIID is believed to recognize at least two distinct elements, the TATA element and a downstream promoter element. TFIID is also involved in recognition of TATA-less Pol II promoters. Binding of TFIID to DNA is necessary but not sufficient for transcription initiation from most RNA polymerase II promoters.
transcription factor TFTC complex	A protein complex that does not contain either a TATA-binding protein (TBP) or a TBP-like factor, but is composed of several TAFIIs and other proteins, including a histone acetyltransferase. This complex is able to nucleate transcription initiation by RNA polymerase II, can mediate transcriptional activation, and has histone acetyltransferase activity.

3 GO annotations of molecular function

Name	Definition
chromatin binding	Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase.
RNA polymerase II general transcription initiation factor activity	A general transcription initiation factor activity that contributes to transcription start site selection and transcription initiation of genes transcribed by RNA polymerase II. The general transcription factors for RNA polymerase II include TFIIB, TFIID, TFIIE, TFIIF, TFIIH and TATA-binding protein (TBP). In most species, RNA polymerase II transcribes all messenger RNAs (mRNAs), most untranslated regulatory RNAs, the majority of the snoRNAs, four of the five snRNAs (U1, U2, U4, and U5), and other small noncoding RNAs. For some small RNAs there is variability between species as to whether it is transcribed by RNA polymerase II or RNA polymerase III. However there are also rare exceptions, such as Trypanosoma brucei, where RNA polymerase I transcribes certain mRNAs in addition to its normal role in rRNA transcription.
transcription cis-regulatory region binding	Binding to a specific sequence of DNA that is part of a regulatory region that controls transcription of that section of the DNA. The transcribed region might be described as a gene, cistron, or operon.

13 GO annotations of biological process

Name	Definition
G2/M transition of mitotic cell cycle	The mitotic cell cycle transition by which a cell in G2 commits to M phase. The process begins when the kinase activity of M cyclin/CDK complex reaches a threshold high enough for the cell cycle to proceed. This is accomplished by activating a positive feedback loop that results in the accumulation of unphosphorylated and active M cyclin/CDK complex.
histone H3 acetylation	The modification of histone H3 by the addition of an acetyl group.
monoubiquitinated histone deubiquitination	The removal of the ubiquitin group from a monoubiquitinated histone protein.
monoubiquitinated histone H2A deubiquitination	The removal of the ubiquitin group from a monoubiquitinated histone H2A protein.
mRNA transcription by RNA polymerase II	The cellular synthesis of messenger RNA (mRNA) from a DNA template by RNA polymerase II, originating at an RNA polymerase II promoter.
positive regulation of DNA-templated transcription	Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription.
positive regulation of transcription initiation by RNA polymerase II	Any process that increases the rate, frequency or extent of a process involved in starting transcription from an RNA polymerase II promoter.
protein phosphorylation	The process of introducing a phosphate group on to a protein.
regulation of DNA repair	Any process that modulates the frequency, rate or extent of DNA repair.
regulation of transcription by RNA polymerase II	Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.
response to organic cyclic compound	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organic cyclic compound stimulus.
RNA polymerase II preinitiation complex assembly	The aggregation, arrangement and bonding together of proteins on an RNA polymerase II promoter DNA to form the transcriptional preinitiation complex (PIC), the formation of which is a prerequisite for transcription by RNA polymerase.
transcription initiation at RNA polymerase II promoter	A transcription initiation process that takes place at a RNA polymerase II gene promoter. Messenger RNAs (mRNA) genes, as well as some non-coding RNAs, are transcribed by RNA polymerase II.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q8C176	Taf2	Transcription initiation factor TFIID subunit 2	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MPLTGVEPAR	MNRKKGDKGF	ESPRPYKLTH	QVVCINNINF	QRKSVVGFVE	LTIFPTVANL
70	80	90	100	110	120
NRIKLNSKQC	RIYRVRINDL	EAAFIYNDPT	LEVCHSESKQ	RNLNYFSNAY	AAAVSAVDPD
130	140	150	160	170	180
AGNGELCIKV	PSELWKHVDE	LKVLKIHINF	SLDQPKGGLH	FVVPSVEGSM	AERGAHVFSC
190	200	210	220	230	240
GYQNSTRFWF	PCVDSYSELC	TWKLEFTVDA	AMVAVSNGDL	VETVYTHDMR	KKTFHYMLTI
250	260	270	280	290	300
PTAASNISLA	IGPFEILVDP	YMHEVTHFCL	PQLLPLLKHT	TSYLHEVFEF	YEEILTCRYP
310	320	330	340	350	360
YSCFKTVFID	EAYVEVAAYA	SMSIFSTNLL	HSAMIIDETP	LTRRCLAQSL	AQQFFGCFIS
370	380	390	400	410	420
RMSWSDEWVL	KGISGYIYGL	WMKKTFGVNE	YRHWIKEELD	KIVAYELKTG	GVLLHPIFGG
430	440	450	460	470	480
GKEKDNPASH	LHFSIKHPHT	LSWEYYSMFQ	CKAHLVMRLI	ENRISMEFML	QVFNKLLSLA
490	500	510	520	530	540
STASSQKFQS	HMWSQMLVST	SGFLKSISNV	SGKDIQPLIK	QWVDQSGVVK	FYGSFAFNRK
550	560	570	580	590	600
RNVLELEIKQ	DYTSPGTQKY	VGPLKVTVQE	LDGSFNHTLQ	IEENSLKHDI	PCHSKSRRNK
610	620	630	640	650	660
KKKIPLMNGE	EVDMDLSAMD	ADSPLLWIRI	DPDMSVLRKV	EFEQADFMWQ	YQLRYERDVV
670	680	690	700	710	720
AQQESILALE	KFPTPASRLA	LTDILEQEQC	FYRVRMSACF	CLAKIANSMV	STWTGPPAMK
730	740	750	760	770	780
SLFTRMFCCK	SCPNIVKTNN	FMSFQSYFLQ	KTMPVAMALL	RDVHNLCPKE	VLTFILDLIK
790	800	810	820	830	840
YNDNRKNKFS	DNYYRAEMID	ALANSVTPAV	SVNNEVRTLD	NLNPDVRLIL	EEITRFLNME
850	860	870	880	890	900
KLLPSYRHTI	TVSCLRAIRV	LQKNGHVPSD	PALFKSYAEY	GHFVDIRIAA	LEAVVDYTKV
910	920	930	940	950	960
DRSYEELQWL	LNMIQNDPVP	YVRHKILNML	TKNPPFTKNM	ESPLCNEALV	DQLWKLMNSG
970	980	990	1000	1010	1020
TSHDWRLRCG	AVDLYFTLFG	LSRPSCLPLP	ELGLVLNLKE	KKAVLNPTII	PESVAGNQEA
1030	1040	1050	1060	1070	1080
ANNPSSHPQL	VGFQNPFSSS	QDEEEIDMDT	VHDSQAFISH	HLNMLERPST	PGLSKYRPAS
1090	1100	1110	1120	1130	1140
SRSALIPQHS	AGCDSTPTTK	PQWSLELARK	GTGKEQAPLE	MSMHPAASAP	LSVFTKESTA
1150	1160	1170	1180	1190
SKHSDHHHHH	HHEHKKKKKK	HKHKHKHKHK	HDSKEKDKEP	FTFSSPASGR	SIRSPSLSD