AiPD: Autoinhibited Protein Database

Q96HW7

Gene name	INTS4 (MSTP093)
Protein name	Integrator complex subunit 4
Names	Int4
Species	Homo sapiens (Human)
KEGG Pathway	hsa:92105
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

572-648 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

572-648 (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

9 structures for Q96HW7

Entry ID	Method	Resolution	Chain	Position	Source
7BFP	EM	350 A	C	1-963	PDB
7BFQ	EM	350 A	C	1-963	PDB
7CUN	EM	350 A	D	1-963	PDB
7PKS	EM	360 A	d	1-963	PDB
7YCX	EM	418 A	D	1-963	PDB
8RBX	EM	410 A	d	1-963	PDB
8RBZ	EM	370 A	d	1-963	PDB
8RC4	EM	310 A	d	1-963	PDB
AF-Q96HW7-F1	Predicted				AlphaFoldDB

708 variants for Q96HW7

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs867049085 CA224911315	2	A>V		No	ClinGen Ensembl
TCGA novel	4	H>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	4	H>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1565299780 CA382102352	5	L>F		No	ClinGen Ensembl
CA382102340 rs1297237057	5	L>R		No	ClinGen TOPMed
TCGA novel	5	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA382102290 rs1216494552	9	V>A		No	ClinGen TOPMed
CA382102288 rs1216494552	9	V>G		No	ClinGen TOPMed
rs1391671791 CA382102296	9	V>I		No	ClinGen gnomAD
TCGA novel	12	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1509956 CA382102245 rs1276624030	13	F>L	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
COSM1509956 CA6202594 rs747921947	13	F>L	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA
rs1210808452 CA382102202	16	V>G		No	ClinGen TOPMed
CA382102211 rs1372804724	16	V>L		No	ClinGen gnomAD
CA382102201 rs1565299731	17	V>I		No	ClinGen Ensembl
rs755225314 CA382102188	18	Q>*		No	ClinGen ExAC gnomAD
CA6202590 rs780085574	18	Q>H		No	ClinGen ExAC gnomAD
rs755225314 CA6202592	18	Q>K		No	ClinGen ExAC gnomAD
CA6202591 rs749514914	18	Q>R		No	ClinGen ExAC gnomAD
CA382102052 rs1321119710	19	P>L		No	ClinGen gnomAD
CA382102047 rs1450244133	20	Q>P		No	ClinGen Ensembl
rs867005044 CA224909194	25	T>A		No	ClinGen Ensembl
rs900852101 CA224909186	28	L>F		No	ClinGen gnomAD
rs1374902695 CA382101987	29	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1040938840 CA224909175	29	R>Q		No	ClinGen gnomAD
CA224909166 rs903141323	31	T>I		No	ClinGen Ensembl
CA382101964 rs1384876617	33	P>S		No	ClinGen TOPMed gnomAD
CA382101957 rs1591156833	34	S>N		No	ClinGen Ensembl
TCGA novel	37	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA382101926 rs1335759089	38	A>G		No	ClinGen gnomAD
CA6202571 rs780209436	38	A>T		No	ClinGen ExAC gnomAD
rs1565297096 CA382101921	39	L>R		No	ClinGen Ensembl
CA382101917 rs1404314443	40	H>Y		No	ClinGen gnomAD
CA6202569 rs781306217	41	I>L		No	ClinGen ExAC TOPMed gnomAD
CA6202568 rs781306217	41	I>V		No	ClinGen ExAC TOPMed gnomAD
CA224909119 rs754003021	45	K>R		No	ClinGen Ensembl
TCGA novel	46	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA382101847 rs757775650	47	T>A		No	ClinGen ExAC gnomAD
rs377300136 CA6202566	47	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6202567 rs757775650	47	T>P		No	ClinGen ExAC gnomAD
rs1459835409 CA382101825	49	P>Q		No	ClinGen gnomAD
rs764493722 CA6202565	49	P>S		No	ClinGen ExAC gnomAD
CA6202563 rs753120517	50	A>G		No	ClinGen ExAC TOPMed gnomAD
CA6202562 rs766075585	51	D>G		No	ClinGen ExAC gnomAD
rs957561443 CA224909065	57	L>H		No	ClinGen TOPMed
rs928635924 CA224909073	57	L>V		No	ClinGen Ensembl
CA382101737 rs1171637716	58	Q>E		No	ClinGen TOPMed
rs542298006 CA224909058	59	F>C		No	ClinGen Ensembl
CA382101717 rs1222759576	59	F>L		No	ClinGen gnomAD
rs1356380554 CA382101713	60	A>S		No	ClinGen gnomAD
CA224909052 rs867830896	60	A>V		No	ClinGen Ensembl
CA6202560 rs772847334	61	R>S		No	ClinGen ExAC gnomAD
CA382101680 rs1449930431	63	P>S		No	ClinGen gnomAD
rs1381055608 CA382101669	64	V>F		No	ClinGen gnomAD
CA6202557 rs774107778	65	E>K		No	ClinGen ExAC TOPMed gnomAD
CA6202556 rs200792096	66	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	67	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs144227709 CA6202552	69	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA6202553 CA382101614 rs144227709	69	V>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC TOPMed gnomAD NCI-TCGA
CA6202551 rs781297798	71	G>R		No	ClinGen ExAC gnomAD
CA382101591 rs1443076625	71	G>V		No	ClinGen gnomAD
CA224908967 rs984908885	72	V>A		No	ClinGen Ensembl
CA382101574 rs1328556664	73	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA382101473 rs1242760904	78	E>D		No	ClinGen gnomAD
CA6202550 rs770961026	79	H>Q		No	ClinGen ExAC gnomAD
rs953570031 CA224908961	80	Y>C		No	ClinGen Ensembl
CA6202524 rs754262186	84	N>S		No	ClinGen ExAC TOPMed gnomAD
CA224902242 rs370364248	85	D>E		No	ClinGen ESP TOPMed gnomAD
TCGA novel	85	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1004377591 CA224902221	86	P>S		No	ClinGen TOPMed
rs1274150191 CA382098550	87	S>C		No	ClinGen TOPMed
CA6202522 rs548986036	92	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA382098506 rs1183783237	94	S>*		No	ClinGen gnomAD
CA6202520 rs535081971	94	S>T		No	ClinGen 1000Genomes ExAC gnomAD
rs762842400 CA6202519	97	G>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	98	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	99	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6202516 rs367956857	101	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA382098464 rs1258810908	101	K>Q		No	ClinGen TOPMed
CA382098419 rs776501933	108	D>H		No	ClinGen ExAC TOPMed gnomAD
rs1315153074 CA382098416	108	D>V		No	ClinGen TOPMed gnomAD
CA6202515 rs776501933	108	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA6202514 rs199659279	110	I>V		No	ClinGen ExAC gnomAD
CA6202513 rs761028498	112	D>G		No	ClinGen ExAC gnomAD
CA382098378 rs1384738532	113	D>V		No	ClinGen gnomAD
CA382098370 rs1452516473	114	A>V		No	ClinGen TOPMed
CA382098356 rs1290512319	116	N>K		No	ClinGen gnomAD
CA382098358 rs1385645626	116	N>S		No	ClinGen gnomAD
CA6202510 rs748261376	117	I>L		No	ClinGen ExAC gnomAD
rs749556001 CA6202507	119	Q>P		No	ClinGen ExAC TOPMed gnomAD
CA224902172 rs373833964	120	N>S		No	ClinGen ESP TOPMed gnomAD
TCGA novel	122	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA382098297 rs1409226163	123	S>C		No	ClinGen TOPMed
CA224899928 rs1021612893	125	Q>K		No	ClinGen gnomAD
CA382098273 rs1174986835	127	L>V		No	ClinGen gnomAD
rs777362345 CA6202486	128	A>G		No	ClinGen ExAC gnomAD
rs61736152 CA6202484	132	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1325826657 CA382098234	133	T>I		No	ClinGen gnomAD
rs778464510 CA6202483	134	L>W		No	ClinGen ExAC gnomAD
rs1343049113 CA382098223	135	L>P		No	ClinGen gnomAD
CA382098211 rs1398163642	137	I>T		No	ClinGen gnomAD
rs1410122615 CA382098214	137	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA6202480 rs766249901	139	T>A		No	ClinGen ExAC gnomAD
CA382098190 rs1274239447	140	K>N		No	ClinGen TOPMed
CA382098189 rs1460756539	141	L>I		No	ClinGen gnomAD
rs755899178 CA6202479	141	L>P		No	ClinGen ExAC gnomAD
rs200604747 CA6202477	142	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA382098168 rs1203703617	144	N>S		No	ClinGen TOPMed
CA6202476 rs762182194	146	A>T		No	ClinGen ExAC gnomAD
CA382098151 rs1490707641	147	I>V		No	ClinGen TOPMed
rs763345688 CA6202473	150	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6202474 rs763345688	150	R>G		No	ClinGen ExAC TOPMed gnomAD
rs533963199 CA6202472	150	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA382098122 rs1193909333	151	L>S		No	ClinGen gnomAD
TCGA novel	152	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770231236 CA6202470	154	V>M		No	ClinGen ExAC TOPMed gnomAD
CA382098095 rs1591137758	155	A>V		No	ClinGen Ensembl
CA382098088 rs1420041276	156	C>F		No	ClinGen TOPMed
rs1225195354 CA382098085	157	K>Q		No	ClinGen gnomAD
rs751427886 CA6202408	158	H>N		No	ClinGen ExAC
CA382097236 rs1416989834	158	H>R		No	ClinGen TOPMed
CA382097231 rs1483521534	159	L>V		No	ClinGen gnomAD
TCGA novel	161	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1240253749 CA382097210	162	T>K		No	ClinGen TOPMed gnomAD
rs1240253749 CA382097208	162	T>M		No	ClinGen TOPMed gnomAD
rs140056069 CA6202403	163	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA382097199 rs754298237	164	H>P		No	ClinGen ExAC TOPMed
CA6202402 rs754298237	164	H>R		No	ClinGen ExAC TOPMed
rs1041751560 CA224884285	165	G>S		No	ClinGen TOPMed
rs1289687109 CA382097187	166	V>A		No	ClinGen gnomAD
CA6202398 rs763790646	166	V>I		No	ClinGen ExAC gnomAD
TCGA novel	167	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6202397 rs762581587	167	R>S		No	ClinGen ExAC gnomAD
rs775032170 CA6202396	168	N>S		No	ClinGen ExAC TOPMed gnomAD
CA382097171 rs1276828513	169	K>E		No	ClinGen gnomAD
TCGA novel	169	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6202395 rs769235779	170	C>S		No	ClinGen ExAC gnomAD
CA6202393 rs776670354	173	L>S		No	ClinGen ExAC TOPMed gnomAD
CA6202392 rs770992713	174	L>F		No	ClinGen ExAC gnomAD
rs746738823 CA6202391	174	L>R		No	ClinGen ExAC gnomAD
rs1411427275 CA382097124	176	N>S		No	ClinGen gnomAD
rs150667800 CA224884233	177	L>H		No	ClinGen ESP
rs1192804476 CA382097103	180	L>M		No	ClinGen gnomAD
rs1591112064 CA382097087	182	K>E		No	ClinGen Ensembl
rs758618768 CA6202389	182	K>R		No	ClinGen ExAC gnomAD
CA6202388 rs748371287	183	S>G		No	ClinGen ExAC gnomAD
rs1485271599 CA382097077	183	S>I		No	ClinGen TOPMed
TCGA novel	187	D>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1487992213 CA382097042	188	A>G		No	ClinGen gnomAD
TCGA novel	189	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6202387 rs148175971	190	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6202386 rs148175971	190	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs753919356 CA6202385	193	A>V		No	ClinGen ExAC gnomAD
CA382096997 rs1309577986	196	V>I		No	ClinGen gnomAD
CA6202384 rs766814038	197	Q>R		No	ClinGen ExAC gnomAD
rs966442964 CA224884176	199	I>M		No	ClinGen Ensembl
CA6202383 rs143806539	199	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1285352612 CA382096966	200	I>M		No	ClinGen gnomAD
CA6202382 rs750797237	200	I>V		No	ClinGen ExAC TOPMed gnomAD
rs767810717 CA6202381	203	Y>N		No	ClinGen ExAC gnomAD
rs143465146 CA6202379	205	S>G		No	ClinGen ESP ExAC gnomAD
CA224884151 rs1021273682	207	Q>*		No	ClinGen Ensembl
TCGA novel	209	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA382096901 rs1169889018	209	P>L		No	ClinGen gnomAD
CA382096904 rs1397769193	209	P>S		No	ClinGen gnomAD
CA382096899 rs759046434	210	R>C		No	ClinGen ExAC TOPMed gnomAD
CA6202377 rs759046434	210	R>G		No	ClinGen ExAC TOPMed gnomAD
CA382096895 rs1395850921	210	R>H		No	ClinGen gnomAD
CA6202375 rs770976360	215	A>T		No	ClinGen ExAC TOPMed gnomAD
CA6202374 rs746983370	215	A>V		No	ClinGen ExAC gnomAD
CA382096834 rs1481824824	216	I>V		No	ClinGen gnomAD
TCGA novel	218	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771717598 CA6202372	219	M>L		No	ClinGen ExAC gnomAD
CA382096705 rs1351830609	220	L>S		No	ClinGen gnomAD
CA6202351 rs368162001	223	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA382096653 rs1591110895	224	E>V		No	ClinGen Ensembl
CA382096641 rs1565273985	225	R>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs750368672 CA224883500	226	G>R		No	ClinGen Ensembl
CA224883476 rs137897551	230	H>Q		No	ClinGen ESP TOPMed gnomAD
CA6202350 rs780083429	230	H>Y		No	ClinGen ExAC gnomAD
CA6202349 rs769814050	231	Q>E		No	ClinGen ExAC gnomAD
CA382096557 rs1273050219	232	T>A		No	ClinGen TOPMed
rs146919684 CA6202347	233	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs374008822 CA6202348	233	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA382096498 rs1290159434	236	Q>R		No	ClinGen gnomAD
rs775649343 CA6202331	237	A>D		No	ClinGen ExAC TOPMed gnomAD
rs762758309 CA382096428	237	A>S		No	ClinGen ExAC gnomAD
CA6202332 rs762758309	237	A>T		No	ClinGen ExAC gnomAD
rs1289927505 CA382096420	238	C>F		No	ClinGen gnomAD
rs547157454 CA224882408	240	L>S		No	ClinGen 1000Genomes
rs781387385 CA6202328	242	S>C		No	ClinGen ExAC gnomAD
CA382096397 rs1200214152	242	S>T		No	ClinGen gnomAD
CA6202327 rs771335011	244	D>N		No	ClinGen ExAC gnomAD
rs527517742 CA6202325	245	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs527517742 CA6202326	245	Y>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6202323 rs561809750	246	E>G		No	ClinGen 1000Genomes ExAC gnomAD
COSM1298647 CA382096371 rs1259922873	246	E>K	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA6202321 rs755854229	248	V>A		No	ClinGen ExAC gnomAD
rs141229541 CA6202320	249	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6202319 rs191741859	249	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA382096331 rs1173721390	252	A>T		No	ClinGen TOPMed
CA382096311 rs1173470839	255	L>F		No	ClinGen gnomAD
CA382096307 rs1401943307	256	I>L		No	ClinGen TOPMed
rs111604981 CA224882303	256	I>N		No	ClinGen ExAC gnomAD
rs111604981 CA6202316	256	I>T		No	ClinGen ExAC gnomAD
CA382096293 rs1423500478	258	V>I		No	ClinGen gnomAD
CA6202315 rs762666423	259	V>I		No	ClinGen ExAC TOPMed gnomAD
rs145496263 CA382096273	261	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA6202313 rs145496263	261	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA382096269 rs1350447472	261	Q>H		No	ClinGen gnomAD
CA382096251 rs1370867304	264	P>S		No	ClinGen TOPMed
CA6202302 rs745586343	267	I>V		No	ClinGen ExAC TOPMed gnomAD
CA6202301 rs780733344	268	V>F		No	ClinGen ExAC TOPMed gnomAD
CA382096078 rs1243704116	270	I>V		No	ClinGen gnomAD
CA382096060 rs1212068098	271	P>L		No	ClinGen TOPMed gnomAD
CA6202300 rs756713835	272	S>F		No	ClinGen ExAC TOPMed gnomAD
CA6202298 rs150144073	273	S>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6202299 rs751070787	273	S>P		No	ClinGen ExAC TOPMed gnomAD
CA382096046 rs751070787	273	S>T		No	ClinGen ExAC TOPMed gnomAD
CA382096030 rs1306570826	274	N>K		No	ClinGen gnomAD
rs758383794 CA6202297	277	I>L		No	ClinGen ExAC gnomAD
CA6202296 rs200399700	278	R>C		No	ClinGen ExAC TOPMed gnomAD
rs765120138 CA6202294	278	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1333641851 CA382095962	280	V>A		No	ClinGen TOPMed gnomAD
rs1357926068 CA382095968	280	V>I		No	ClinGen gnomAD
CA382095945 rs776861330	282	D>N		No	ClinGen ExAC TOPMed gnomAD
CA6202292 rs776861330	282	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs766516019 CA382095927	283	A>E		No	ClinGen ExAC TOPMed gnomAD
CA382095926 rs766516019	283	A>G		No	ClinGen ExAC TOPMed gnomAD
rs766516019 CA6202291	283	A>V		No	ClinGen ExAC TOPMed gnomAD
rs748709014 CA6202287	286	K>N		No	ClinGen ExAC gnomAD
rs995319423 CA224880482	286	K>T		No	ClinGen TOPMed gnomAD
rs1565270593 CA382095843	290	M>T		No	ClinGen Ensembl
rs769018750 CA6202285	290	M>V		No	ClinGen ExAC gnomAD
CA6202283 rs780827903	292	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1488963182 CA382095796	294	G>D		No	ClinGen gnomAD
TCGA novel	298	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770580361 CA6202282	299	R>C		No	ClinGen ExAC TOPMed gnomAD
CA6202280 rs777331651	299	R>H		No	ClinGen ExAC TOPMed gnomAD
CA6202281 rs777331651	299	R>P		No	ClinGen ExAC TOPMed gnomAD
rs1230358698 CA382095698	303	A>G		No	ClinGen gnomAD
CA6202279 rs367573254	303	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA382095703 rs367573254	303	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1007819463 CA224880433	304	K>E		No	ClinGen TOPMed gnomAD
CA382094874 rs1455495541	308	S>C		No	ClinGen TOPMed
rs1295468221 CA382094871	309	M>V		No	ClinGen gnomAD
CA6202263 rs777241872	312	V>F		No	ClinGen ExAC gnomAD
CA382094809 rs1406785514	317	L>S		No	ClinGen TOPMed
rs1412604910 CA382094796	319	Q>E		No	ClinGen gnomAD
rs1451981038 CA382094785	320	T>N		No	ClinGen TOPMed
rs1591084425 CA382094758	324	K>T		No	ClinGen Ensembl
TCGA novel	326	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6202262 rs771520611	326	M>T		No	ClinGen ExAC gnomAD
CA6202261 rs747641435	330	R>K		No	ClinGen ExAC gnomAD
CA6202247 rs770192039	333	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs759915571 CA6202246	333	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1441876130 CA382094618	334	T>A		No	ClinGen gnomAD
rs1201271176 CA382094613	334	T>S		No	ClinGen TOPMed
rs772809454 CA6202245	336	H>R		No	ClinGen ExAC gnomAD
CA6202243 rs747682741	338	R>C		No	ClinGen ExAC TOPMed gnomAD
CA6202242 rs140822040	338	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA382094544 rs1208076859	340	K>E		No	ClinGen gnomAD
rs749237779 CA6202240	342	L>R		No	ClinGen ExAC TOPMed gnomAD
CA6202241 rs372643531	342	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA6202239 rs780166729	343	Y>H		No	ClinGen ExAC gnomAD
CA382094479 rs1308459033	344	S>R		No	ClinGen gnomAD
rs772757790 CA224869690	344	S>T		No	ClinGen TOPMed gnomAD
CA6202238 rs151018256 COSM261428	345	S>L	large_intestine prostate [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
COSM358577 rs1360791504 CA382094397	350	S>I	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1465089171 CA382094407	350	S>R		No	ClinGen gnomAD
rs1160013407 CA382094382	351	G>V		No	ClinGen TOPMed gnomAD
rs1303114385 CA382094360	353	K>R		No	ClinGen TOPMed
CA382094345 rs1421919759	354	W>*		No	ClinGen gnomAD
CA224869655 rs28473218	355	G>E		No	ClinGen Ensembl
CA6202235 rs781503762	359	P>A		No	ClinGen ExAC TOPMed gnomAD
rs1181533784 CA382094297	359	P>L		No	ClinGen gnomAD
rs549765642 CA6202233	362	E>K		No	ClinGen 1000Genomes ExAC
CA382094261 rs1258847878	364	D>E		No	ClinGen gnomAD
rs764116210 CA6202232	365	T>S		No	ClinGen ExAC gnomAD
rs753152853 CA6202230	366	G>R		No	ClinGen ExAC gnomAD
rs1218992672 CA382094249	367	A>T		No	ClinGen gnomAD
CA382094243 rs1309641610	368	V>M		No	ClinGen TOPMed
rs777041231 CA6202227	370	L>W		No	ClinGen ExAC gnomAD
CA382094212 rs1323479224	372	E>G		No	ClinGen TOPMed gnomAD
CA382094215 rs1350964873	372	E>Q		No	ClinGen TOPMed
CA382094198 rs1310428301	374	G>A		No	ClinGen gnomAD
CA6202225 rs761413174	378	A>V		No	ClinGen ExAC TOPMed gnomAD
CA382094155 rs1397825641	381	H>Y		No	ClinGen gnomAD
CA6202223 rs773893761	383	L>S		No	ClinGen ExAC gnomAD
rs748864691 CA6202221	387	M>L		No	ClinGen ExAC gnomAD
rs775505708 CA6202220	388	Y>C		No	ClinGen ExAC gnomAD
rs1370739058 CA382094097	389	E>Q		No	ClinGen gnomAD
COSM1561965 rs1265086812 CA382110330	391	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1265086812 CA382110327	391	R>G		No	ClinGen TOPMed gnomAD
rs1212808504 CA382110325	391	R>H		No	ClinGen gnomAD
CA382110283 rs1458198480	394	A>V		No	ClinGen gnomAD
CA382110245 rs1259861223	397	A>D		No	ClinGen TOPMed gnomAD
CA382110249 rs1445470363	397	A>T		No	ClinGen TOPMed
rs1259861223 CA382110246	397	A>V		No	ClinGen TOPMed gnomAD
CA382110234 rs1196245174	399	C>Y		No	ClinGen gnomAD
rs562652655 CA6202210	400	M>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1235028816 CA382110212	402	A>S		No	ClinGen gnomAD
TCGA novel	403	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA382110206 rs1328990001	403	Q>K		No	ClinGen gnomAD
CA224908665 rs1016046185	406	P>R		No	ClinGen TOPMed
rs1299691029 CA382110182	407	S>P		No	ClinGen TOPMed gnomAD
CA6202209 rs754171511	408	F>S		No	ClinGen ExAC gnomAD
CA382110168 rs1591067707	409	A>S		No	ClinGen Ensembl
CA6202208 rs766703927	411	K>E		No	ClinGen ExAC gnomAD
rs761126606 CA6202207	412	C>Y		No	ClinGen ExAC gnomAD
CA6202204 rs762497086	419	M>I		No	ClinGen ExAC gnomAD
CA224908655 rs556037618	419	M>V		No	ClinGen Ensembl
CA6202201 rs769847193	425	E>D		No	ClinGen ExAC gnomAD
rs759583010 CA6202200	426	E>K		No	ClinGen ExAC gnomAD
CA6202199 rs146790163	427	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs146790163 CA6202198	427	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA382110035 rs1437145882	428	R>C		No	ClinGen TOPMed gnomAD
rs746851622 CA6202197	428	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1201640073 CA382110010	430	Q>H		No	ClinGen TOPMed gnomAD
rs1190854470 CA382110018	430	Q>R		No	ClinGen TOPMed
TCGA novel	431	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA382109962 rs1279102165	433	H>R		No	ClinGen gnomAD
CA382109968 rs1171988260	433	H>Y		No	ClinGen TOPMed
rs1378024372 CA382109851	438	I>M		No	ClinGen gnomAD
rs748223589 CA6202194	439	S>P		No	ClinGen ExAC TOPMed gnomAD
rs779006309 CA6202193	439	S>Y		No	ClinGen ExAC TOPMed gnomAD
CA6202191 rs755456584	440	N>D		No	ClinGen ExAC TOPMed
rs143540393 CA6202190	441	N>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA6202189 rs577201312	442	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA382109775 rs1436686864	443	T>A		No	ClinGen TOPMed
CA6202188 rs756369911	443	T>I		No	ClinGen ExAC gnomAD
rs554082325 COSM1210778 CA6202187	445	R>*	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs1420100438 CA382109744	445	R>Q		No	ClinGen TOPMed gnomAD
rs1176537751 CA382109679	449	L>V		No	ClinGen gnomAD
rs1469596535 CA382109639	451	T>I		No	ClinGen TOPMed gnomAD
CA382109601 rs1212751639	454	A>T		No	ClinGen TOPMed
rs148749715 CA6202145	460	S>A		No	ClinGen ESP ExAC gnomAD
CA382108824 rs1478495286	462	D>G		No	ClinGen gnomAD
CA6202144 rs747382458	464	R>*		No	ClinGen ExAC TOPMed gnomAD
COSM1644679 CA382108797 rs1185518752	464	R>Q	salivary_gland Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA382108767 rs754733463	465	E>D		No	ClinGen ExAC TOPMed gnomAD
rs778648243 CA6202143	465	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA382108749 rs1224192953	467	L>I		No	ClinGen gnomAD
CA382108729 rs1482039652	468	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA382108681 rs1273048094	471	L>I		No	ClinGen gnomAD
CA6202140 rs765965371	472	C>R		No	ClinGen ExAC gnomAD
CA382108614 rs1201026452	475	N>D		No	ClinGen TOPMed
CA382108575 rs1368567908	477	S>*		No	ClinGen gnomAD
CA6202138 rs750336381	478	T>A		No	ClinGen ExAC TOPMed gnomAD
rs750336381 CA382108567	478	T>S		No	ClinGen ExAC TOPMed gnomAD
CA382108550 rs1422081733	479	K>R		No	ClinGen TOPMed
rs544026334 CA6202137	481	G>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1393684944 CA382108515	482	I>L		No	ClinGen gnomAD
CA6202136 rs372455108	483	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1466747623 CA382108488	485	A>T		No	ClinGen gnomAD
rs764298836 CA382108483	486	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1355302275 CA382108467	488	E>G		No	ClinGen TOPMed gnomAD
rs1226397147 CA382108471	488	E>K		No	ClinGen gnomAD
CA382108418 CA6202131 rs564720876	495	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs777210322 CA6202129	498	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA6202126 rs778347617	500	R>T		No	ClinGen ExAC gnomAD
rs754566925 CA6202125	502	S>T		No	ClinGen ExAC gnomAD
TCGA novel	504	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1347427127 CA382108285	506	C>R		No	ClinGen TOPMed gnomAD
CA224905117 rs970470653	508	K>Q		No	ClinGen TOPMed
rs533667444 CA6202113	512	S>T		No	ClinGen 1000Genomes ExAC gnomAD
CA6202112 COSM932222 rs776909413	513	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA382108238 rs1250313915	513	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1306147439 CA382108226	515	P>A		No	ClinGen gnomAD
rs1555026975 CA382108220	516	T>A		No	ClinGen Ensembl
rs1198220829 CA382108202	519	L>F		No	ClinGen TOPMed
CA382108181 rs1413860284	522	V>A		No	ClinGen gnomAD
rs1360732683 CA382108151	527	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1419270186 CA382108145	528	T>A		No	ClinGen TOPMed
CA6202108 rs149621926	534	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA382108061 rs1464656194	539	M>I		No	ClinGen TOPMed
rs1458089369 CA382108005	545	I>S		No	ClinGen TOPMed
TCGA novel	545	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6202097 rs752446607	547	V>L		No	ClinGen ExAC gnomAD
TCGA novel	549	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765482105 CA6202096	553	N>S		No	ClinGen ExAC TOPMed gnomAD
CA6202095 TCGA novel rs759743099	557	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ExAC gnomAD
CA382107869 rs1271142118	559	P>S		No	ClinGen gnomAD
CA382107857 rs1212524348	560	T>A		No	ClinGen gnomAD
CA224904615 rs771986598	561	M>V		No	ClinGen TOPMed gnomAD
rs1224869036 CA382107814	563	A>T		No	ClinGen gnomAD
TCGA novel	565	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1565245981 CA382107694	569	T>I		No	ClinGen Ensembl
rs1591058981 CA382107703	569	T>P		No	ClinGen Ensembl
rs766518937 CA6202092	572	H>Q		No	ClinGen ExAC gnomAD
CA382107634 rs1387654887	573	Y>C		No	ClinGen gnomAD
rs760869280 CA6202091	575	Y>*		No	ClinGen ExAC gnomAD
CA382107606 rs1591058952	575	Y>S		No	ClinGen Ensembl
rs1324392168 CA382107596	576	L>H		No	ClinGen gnomAD
rs772470786 CA6202090 COSM1357135	577	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA382107586 rs1401200997	577	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA382107584 rs1169722154	578	D>N		No	ClinGen gnomAD
rs1464734225 CA382107566	579	S>N		No	ClinGen TOPMed
rs1460696256 CA382107536	582	H>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA6202088 rs373260073	583	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA6202087 rs774648303	584	V>L		No	ClinGen ExAC gnomAD
rs1401275380 CA382107441	587	L>*		No	ClinGen TOPMed
CA382107416 rs750190548	588	R>S		No	ClinGen TOPMed
CA224903034 rs1039198819	590	P>T		No	ClinGen TOPMed
rs766715145 CA6202073	592	R>G		No	ClinGen ExAC TOPMed
CA382106513 rs1212652538	595	V>A		No	ClinGen gnomAD
rs1345291603 CA382106504	596	S>*		No	ClinGen gnomAD
rs756207239 CA6202072	597	S>L		No	ClinGen ExAC gnomAD
CA382106478 rs1233995727	599	V>I		No	ClinGen TOPMed gnomAD
CA382106477 rs1233995727	599	V>L		No	ClinGen TOPMed gnomAD
CA382106457 rs1352066003	600	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA382106432 rs1413471303	603	I>V		No	ClinGen gnomAD
rs1236989326 CA382106410	604	I>M		No	ClinGen gnomAD
CA382106412 rs1281740778	604	I>T		No	ClinGen TOPMed gnomAD
rs768066317 CA6202070	607	E>K		No	ClinGen ExAC gnomAD
CA382106327 rs1177840704	611	Q>*		No	ClinGen TOPMed
rs1477475981 CA382106298	612	Q>*		No	ClinGen gnomAD
CA382106284 rs1420038697	612	Q>H		No	ClinGen gnomAD
rs774758528 CA6202068	614	L>V		No	ClinGen ExAC gnomAD
CA382106229 rs1156688419	615	Q>P		No	ClinGen gnomAD
CA6202067 rs764314282	617	S>R		No	ClinGen ExAC gnomAD
CA382106154 rs1405947601	619	E>Q		No	ClinGen TOPMed
CA382106128 rs1451310101	620	R>T		No	ClinGen TOPMed
CA224902996 rs934889617	621	V>A		No	ClinGen TOPMed gnomAD
rs1331561138 CA382106115	621	V>L		No	ClinGen TOPMed
rs770580492 CA6202064	622	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs770580492 CA6202065	622	Y>F		No	ClinGen ExAC TOPMed gnomAD
CA224902965 rs368882539	625	Q>E		No	ClinGen ESP TOPMed
CA382105991 rs1591054703	627	L>V		No	ClinGen Ensembl
rs1326865209 CA382105973	628	D>Y		No	ClinGen TOPMed
TCGA novel	629	P>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1463428593 CA382105922	630	Q>P		No	ClinGen TOPMed gnomAD
rs571689070 CA224902961	631	G>E		No	ClinGen 1000Genomes TOPMed
CA382105892 rs1252831850	632	A>T		No	ClinGen TOPMed
rs1286765089 CA382105879	633	Q>K		No	ClinGen TOPMed gnomAD
rs1181426035 CA382105844	634	E>V		No	ClinGen TOPMed
rs139356522 CA6202061	637	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs748084985 CA6202060	638	F>Y		No	ClinGen ExAC gnomAD
CA382105747 rs1481643827	639	T>I		No	ClinGen TOPMed
rs778941867 CA6202059	640	I>V		No	ClinGen ExAC TOPMed gnomAD
rs769676358 CA6202012	642	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA382102956 rs1247359792	646	L>F		No	ClinGen gnomAD
rs1266282968 CA382102948	647	G>R		No	ClinGen Ensembl
rs1565236769 CA382102921	648	E>V		No	ClinGen Ensembl
rs781210393 CA6202010	650	Q>L		No	ClinGen ExAC gnomAD
CA224895766 rs377236226	652	E>Q		No	ClinGen ESP TOPMed gnomAD
CA224895765 rs866258764	654	A>V		No	ClinGen Ensembl
CA382102835 rs1339694344	655	G>R		No	ClinGen gnomAD
CA6202007 rs758879615	656	V>E		No	ClinGen ExAC gnomAD
rs758879615 CA6202006	656	V>G		No	ClinGen ExAC gnomAD
rs755240782 CA6202003	657	A>G		No	ClinGen ExAC
rs779397386 CA6202004	657	A>S		No	ClinGen ExAC
CA6202005 rs779397386	657	A>T		No	ClinGen ExAC
CA224895702 rs1013256436	660	S>*		No	ClinGen ESP TOPMed
rs1297310465 CA382102763	660	S>C		No	ClinGen gnomAD
TCGA novel	660	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs534107237 CA6201999	665	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs867570154 CA382102693	665	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA224895642 rs867570154	665	R>L		No	ClinGen TOPMed gnomAD
CA6202000 rs534107237	665	R>S		No	ClinGen ExAC gnomAD
CA382102688 rs1386247352	666	C>R		No	ClinGen gnomAD
CA382102669 COSM1157756 rs1397494648	667	Q>*	pancreas [Cosmic]	No	ClinGen cosmic curated gnomAD
CA6201998 rs766856862	667	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1393146101 CA382102621	671	I>M		No	ClinGen gnomAD
CA6201995 rs769780275	671	I>S		No	ClinGen ExAC gnomAD
CA6201994 rs759234854	672	K>Q		No	ClinGen ExAC gnomAD
CA6201993 rs199995696	672	K>R		No	ClinGen 1000Genomes ExAC gnomAD
CA382101884 rs1350105005	673	A>V		No	ClinGen gnomAD
CA382101865 rs1294070454	674	L>F		No	ClinGen TOPMed gnomAD
rs1416839814 CA382101861	675	Q>E		No	ClinGen gnomAD
CA224893130 rs927048458	675	Q>R		No	ClinGen TOPMed
CA382101835 rs1353399223	676	E>G		No	ClinGen TOPMed gnomAD
rs139297026 CA6201967	678	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs772340045 CA6201969	678	L>S		No	ClinGen ExAC gnomAD
CA6201966 rs769023521	680	N>H		No	ClinGen ExAC TOPMed gnomAD
CA6201964 rs780459751	681	V>I		No	ClinGen ExAC TOPMed gnomAD
CA382101715 rs1591036592	683	A>T		No	ClinGen Ensembl
CA382101679 rs1189704528	685	L>S		No	ClinGen gnomAD
rs1565234425 CA382101662	686	Y>C		No	ClinGen Ensembl
CA382101667 rs1474019008	686	Y>H		No	ClinGen gnomAD
CA382101617 rs1236129894	689	Q>*		No	ClinGen gnomAD
CA382101419 rs1448104191	696	A>G		No	ClinGen gnomAD
TCGA novel	696	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA382101400 rs746244022	697	A>G		No	ClinGen ExAC TOPMed gnomAD
rs746244022 CA6201962	697	A>V		No	ClinGen ExAC TOPMed gnomAD
CA6201960 rs758187706	698	K>T		No	ClinGen ExAC TOPMed gnomAD
rs1214958300 CA382101170	701	M>T		No	ClinGen gnomAD
rs1016237257 CA224891896	702	E>G		No	ClinGen TOPMed
CA382101140 rs1341288148	703	E>K		No	ClinGen gnomAD
TCGA novel	704	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1295129126 CA382101097	705	Y>*		No	ClinGen gnomAD
rs1371612913 CA382101056	707	M>I		No	ClinGen gnomAD
CA382101060 rs1447019221	707	M>T		No	ClinGen TOPMed
TCGA novel	708	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770477605 CA6201941	708	E>K		No	ClinGen ExAC gnomAD
CA382101007 rs1187542068	710	M>I		No	ClinGen TOPMed
rs71469587 CA224891870	711	Y>*		No	ClinGen Ensembl
TCGA novel	711	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	712	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746227521 CA6201940	712	S>R		No	ClinGen ExAC gnomAD
rs1348955077 CA382100866	713	G>D		No	ClinGen gnomAD
CA382100735 rs1329195818	718	Q>*		No	ClinGen gnomAD
rs781717894 CA6201939	720	V>L		No	ClinGen ExAC TOPMed gnomAD
CA224891861 rs781717894	720	V>M		No	ClinGen ExAC TOPMed gnomAD
rs771826559 CA6201938	721	I>L		No	ClinGen ExAC gnomAD
CA382100657 rs747752113	723	H>N		No	ClinGen ExAC TOPMed gnomAD
CA382100646 rs1565233167	723	H>Q		No	ClinGen Ensembl
rs747752113 CA6201937	723	H>Y		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	725	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA382100595 rs1456393600	725	M>R		No	ClinGen TOPMed
rs1456712760 CA382100343	733	Q>K		No	ClinGen TOPMed
TCGA novel	734	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780037785 CA6201933	735	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1227335528 CA382100225	736	V>A		No	ClinGen gnomAD
rs71469586 CA224891803	736	V>I		No	ClinGen Ensembl
rs756087159 CA6201932	737	T>A		No	ClinGen ExAC TOPMed gnomAD
rs750198621 CA6201931	737	T>I		No	ClinGen ExAC gnomAD
rs767253348 CA6201930	739	R>*		No	ClinGen ExAC TOPMed gnomAD
COSM1357132 CA6201929 rs761630699	739	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA6201928 rs751742113	740	T>A		No	ClinGen ExAC gnomAD
CA6201927 rs764240706 COSM1127634	742	R>*	prostate [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1368262583 CA382100139	742	R>Q		No	ClinGen gnomAD
rs1241822877 CA382100123	743	G>R		No	ClinGen TOPMed
CA6201905 rs751364329	745	D>N		No	ClinGen ExAC gnomAD
rs751364329 CA382098059	745	D>Y		No	ClinGen ExAC gnomAD
rs764377229 CA6201904	747	L>F		No	ClinGen ExAC gnomAD
rs1231316048 CA382098036	748	F>S		No	ClinGen TOPMed gnomAD
CA224883872 rs1012998996	749	G>E		No	ClinGen TOPMed gnomAD
rs1320010315 CA382098019	750	M>I		No	ClinGen gnomAD
CA382098018 rs1441639905	751	C>S		No	ClinGen gnomAD
rs763128428 CA6201903	751	C>Y		No	ClinGen ExAC gnomAD
rs752802652 CA6201902	753	K>R		No	ClinGen ExAC gnomAD
CA6201901 rs765361908	754	F>I		No	ClinGen ExAC gnomAD
CA382097986 rs1206672871	755	L>*		No	ClinGen TOPMed
TCGA novel	755	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA382097981 rs1262354415	756	Q>*		No	ClinGen TOPMed
rs1464345756 CA382097966	758	V>L		No	ClinGen TOPMed
CA382097958 rs1565228191	759	D>Y		No	ClinGen Ensembl
CA6201900 rs202047343	760	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	762	Q>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1419331637 CA382097908	764	Y>C		No	ClinGen gnomAD
rs765562738 CA6201884	764	Y>N		No	ClinGen ExAC TOPMed gnomAD
CA224882419 rs963165394 COSM3810480	767	A>T	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA6201881 rs766961443	767	A>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	769	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA382097862 rs1224502059	771	H>Y		No	ClinGen TOPMed
rs1347729789 CA382097839	774	D>Y		No	ClinGen TOPMed gnomAD
CA6201880 rs761134857	775	S>T		No	ClinGen ExAC gnomAD
CA224882374 rs1017512062	777	V>E		No	ClinGen TOPMed
rs773789503 CA6201879	779	K>R		No	ClinGen ExAC gnomAD
CA6201878 rs767731234	780	L>V		No	ClinGen ExAC gnomAD
CA6201876 rs775062418	781	L>V		No	ClinGen ExAC gnomAD
CA6201875 rs769490407	782	D>E		No	ClinGen ExAC gnomAD
rs1349717931 CA382097783	782	D>V		No	ClinGen TOPMed gnomAD
rs186898886 CA382097780	783	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6201874 rs186898886	783	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs770883686 CA6201872	784	M>V		No	ClinGen ExAC TOPMed gnomAD
rs777800218 CA6201870	785	P>H		No	ClinGen ExAC TOPMed gnomAD
rs777800218 CA382097765	785	P>L		No	ClinGen ExAC TOPMed gnomAD
rs746875147 COSM123762 CA6201871	785	P>S	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA6201869 rs758063645	786	R>*		No	ClinGen ExAC gnomAD
CA6201868 rs368402326	786	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA382097759 rs1251613708	787	L>F		No	ClinGen gnomAD
CA382097757 rs1188622850	787	L>P		No	ClinGen gnomAD
CA382097760 rs1251613708	787	L>V		No	ClinGen gnomAD
CA6201866 rs755290472	788	M>L		No	ClinGen ExAC TOPMed gnomAD
CA6201865 rs753944469	788	M>R		No	ClinGen ExAC gnomAD
CA6201867 rs755290472	788	M>V		No	ClinGen ExAC TOPMed gnomAD
rs148229876 CA6201863	789	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs148229876 CA6201864	789	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1329995787 CA382097734	791	K>I		No	ClinGen TOPMed gnomAD
CA382097735 rs1329995787	791	K>R		No	ClinGen TOPMed gnomAD
rs768078719 CA6201861	795	V>M		No	ClinGen ExAC gnomAD
CA6201860 rs762067165	797	K>R		No	ClinGen ExAC TOPMed gnomAD
CA382097681 rs1449870388	800	Q>*		No	ClinGen gnomAD
CA382097666 rs1338640904	802	M>L		No	ClinGen gnomAD
rs376569083 CA6201858	802	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA382097653 rs1270773866	804	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA6201857 rs375893555	804	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1156290663 CA382097644	805	Q>H		No	ClinGen gnomAD
rs1216139707 CA382097647	805	Q>P		No	ClinGen TOPMed
CA382097637 rs1456399868	806	S>N		No	ClinGen gnomAD
CA382097629 rs1241155309	807	A>V		No	ClinGen TOPMed
rs1418075201 CA382097605	811	L>F		No	ClinGen gnomAD
rs1473948137 CA382097596	812	P>L		No	ClinGen TOPMed gnomAD
rs1187548882 CA382097591	813	L>P		No	ClinGen gnomAD
rs1565226280 CA382097574	816	Q>K		No	ClinGen Ensembl
rs963215329 CA224882020	818	H>D		No	ClinGen TOPMed
CA382097533 rs1565226124	820	A>S		No	ClinGen Ensembl
CA6201836 rs760091310	822	A>S		No	ClinGen ExAC gnomAD
rs772845673 CA6201835	822	A>V		No	ClinGen ExAC gnomAD
CA6201834 rs143069093	824	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA382097505 rs1367781067	825	I>L		No	ClinGen TOPMed gnomAD
CA382097496 rs1433915263	826	E>*		No	ClinGen TOPMed gnomAD
rs1433915263 CA382097498	826	E>K		No	ClinGen TOPMed gnomAD
CA6201832 rs774460680	827	P>A		No	ClinGen ExAC gnomAD
rs768496944 CA6201831	828	A>V		No	ClinGen ExAC TOPMed gnomAD
CA6201829 rs1044911 COSM1561966	830	E>Q	large_intestine Variant assessed as Somatic; 0.0006481 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA382097466 rs1195877369	831	S>P		No	ClinGen TOPMed gnomAD
CA224881940 rs771060268	832	D>E		No	ClinGen gnomAD
rs1441211258 CA382097461	832	D>H		No	ClinGen TOPMed gnomAD
CA382097451 rs1426018643	833	N>S		No	ClinGen gnomAD
CA6201827 rs745900673	834	P>A		No	ClinGen ExAC gnomAD
CA6201828 rs745900673	834	P>T		No	ClinGen ExAC gnomAD
CA6201825 rs757352843	836	R>L		No	ClinGen ExAC gnomAD
CA6201826 rs781385631 COSM932217	836	R>W	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1591014336 CA382097422	838	T>N		No	ClinGen Ensembl
rs752024462 CA6201824	840	G>R		No	ClinGen ExAC gnomAD
rs1272209710 CA382097400	842	V>M		No	ClinGen gnomAD
rs565732679 CA382097384	844	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs565732679 CA6201822	844	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs549150331 CA224881879	847	V>I		No	ClinGen 1000Genomes gnomAD
rs529109168 CA6201820	848	D>A		No	ClinGen 1000Genomes ExAC gnomAD
CA6201819 rs529109168	848	D>V		No	ClinGen 1000Genomes ExAC gnomAD
CA382097353 rs1288648638	850	T>A		No	ClinGen TOPMed gnomAD
rs755830988 CA6201818	853	H>Y		No	ClinGen ExAC gnomAD
rs1306533238 CA382097311	856	D>Y		No	ClinGen gnomAD
rs1211027996 CA382097297	858	Q>*		No	ClinGen gnomAD
CA382097276 rs138031219	861	V>F		No	ClinGen ESP ExAC gnomAD
CA6201816 rs138031219	861	V>L		No	ClinGen ESP ExAC gnomAD
CA382096869 rs1231247920	866	L>V		No	ClinGen gnomAD
rs549287015 CA224876240	867	Y>C		No	ClinGen 1000Genomes TOPMed gnomAD
rs776779375 CA6201790	868	P>A		No	ClinGen ExAC TOPMed
rs776779375 CA382096841	868	P>S		No	ClinGen ExAC TOPMed
CA6201789 rs771201870	871	Q>R		No	ClinGen ExAC gnomAD
CA382096755 rs1369949998	875	I>V		No	ClinGen gnomAD
rs1590998922 CA382096745	876	H>P		No	ClinGen Ensembl
rs1291575344 CA382096743	876	H>Q		No	ClinGen gnomAD
CA382096738 rs1423699871	877	P>L		No	ClinGen gnomAD
CA382096726 rs1427711156	879	P>A		No	ClinGen gnomAD
rs747088921 CA6201787	881	D>H		No	ClinGen ExAC gnomAD
CA6201785 rs529248015	882	F>L		No	ClinGen 1000Genomes ExAC gnomAD
CA6201784 rs748648093	883	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA224876168 rs1036518383	883	R>W		No	ClinGen TOPMed gnomAD
rs1326534459 CA382096640	885	P>L		No	ClinGen TOPMed
TCGA novel	885	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA224876154 rs978325311	886	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA382096617 rs1234916468	887	P>L		No	ClinGen TOPMed
CA6201782 rs769004642	889	R>Q		No	ClinGen ExAC gnomAD
rs779291591 CA6201783	889	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6201781 rs749672057	890	H>Y		No	ClinGen ExAC gnomAD
CA382096575 rs745824061	891	R>L		No	ClinGen TOPMed gnomAD
CA224876105 rs745824061	891	R>Q		No	ClinGen TOPMed gnomAD
rs780984349 CA6201780	891	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1565221192 CA382096544	894	T>N		No	ClinGen Ensembl
rs757006926 CA6201779	895	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA382096501 rs368172034	897	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA6201778 rs368172034	897	Y>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs777365865 CA382096493	898	L>F		No	ClinGen ExAC TOPMed gnomAD
rs777365865 CA6201777	898	L>V		No	ClinGen ExAC TOPMed gnomAD
CA6201776 rs757881473	899	S>C		No	ClinGen ExAC gnomAD
rs1251634044 CA382096481	899	S>P		No	ClinGen TOPMed
rs915413817 CA382096471	900	H>Q		No	ClinGen TOPMed gnomAD
TCGA novel	900	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs373879901 CA6201775	900	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	901	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6201773 rs759365044	902	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1467082718 CA382096460	902	A>V		No	ClinGen gnomAD
rs1361114601 CA382096215	906	A>T		No	ClinGen TOPMed
rs1399493903 CA382096207	907	C>F		No	ClinGen gnomAD
rs753607740 CA6201754	907	C>R		No	ClinGen ExAC gnomAD
CA382096195 rs1335429514	908	Q>H		No	ClinGen gnomAD
CA382096194 rs1457469965	909	V>M		No	ClinGen gnomAD
rs1161842205 CA382096177	911	V>A		No	ClinGen gnomAD
rs1413626710 CA382096179	911	V>L		No	ClinGen gnomAD
rs543195366 CA382096166	913	L>V		No	ClinGen gnomAD
CA224872391 rs948926154	916	A>V		No	ClinGen gnomAD
rs761947815 CA6201749	917	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA382096143 rs1270189926	917	Y>C		No	ClinGen gnomAD
CA382096144 rs1270189926	917	Y>S		No	ClinGen gnomAD
rs774332448 CA6201747	919	S>A		No	ClinGen ExAC gnomAD
CA224872382 rs1054909908	919	S>F		No	ClinGen TOPMed
rs1284543950 CA382096127	920	S>G		No	ClinGen gnomAD
rs769182209 CA6201746	922	R>C		No	ClinGen ExAC TOPMed gnomAD
CA6201745 rs763501825	922	R>H		No	ClinGen ExAC gnomAD
CA382096057 rs1313740814	925	K>E		No	ClinGen gnomAD
CA6201744 rs770220271	927	P>A		No	ClinGen ExAC TOPMed gnomAD
CA382096015 rs1390186858	927	P>L		No	ClinGen gnomAD
CA6201743 rs770220271	927	P>S		No	ClinGen ExAC TOPMed gnomAD
rs770220271 CA382096023	927	P>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	928	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1387356555 CA382095931	932	G>D		No	ClinGen TOPMed
rs1227884299 CA382095938	932	G>S		No	ClinGen Ensembl
CA6201742 rs746252330	934	M>I		No	ClinGen ExAC gnomAD
CA6201741 rs772908378	936	P>S		No	ClinGen ExAC TOPMed gnomAD
CA224872365 rs141434365	938	V>M		No	ClinGen 1000Genomes
CA382095820 rs1164151545	939	E>V		No	ClinGen gnomAD
rs778338283 CA382095802	940	T>I		No	ClinGen ExAC gnomAD
rs778338283 CA6201738	940	T>S		No	ClinGen ExAC gnomAD
CA382095795 rs1450237320	941	S>G		No	ClinGen gnomAD
CA224872354 rs367591609	941	S>N		No	ClinGen ESP TOPMed
CA382095761 rs1289979520	943	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1590989534 CA382095732	945	T>P		No	ClinGen Ensembl
CA382095716 rs1409077428	946	I>V		No	ClinGen TOPMed gnomAD
CA6201736 rs749185225	949	S>R		No	ClinGen ExAC gnomAD
CA6201734 rs188994465	951	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs750284357 CA6201733	953	K>E		No	ClinGen ExAC gnomAD
rs1448469243 CA382095612	956	I>V		No	ClinGen Ensembl
CA382095599 rs1470296945 CA382095598	957	M>I		No	ClinGen TOPMed gnomAD
CA6201732 rs140409215	957	M>T		No	ClinGen ESP ExAC TOPMed
CA224872298 rs757466320	960	P>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs751824347 CA6201730	960	P>L		No	ClinGen ExAC gnomAD
CA6201731 rs757466320	960	P>T		No	ClinGen ExAC gnomAD
rs536814853 CA6201727	962	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs374670901 CA6201728	962	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA6201726 rs765904872	963	R>C		No	ClinGen ExAC gnomAD
rs759978044 CA6201725	963	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs776901103 CA6201724	964	R>Q		No	ClinGen ExAC gnomAD

No associated diseases with Q96HW7

No regional properties for Q96HW7

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q96HW7

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
integrator complex	A protein complex that stably associates with the C-terminus of RNA polymerase II and mediates 3'-end processing of small nuclear RNAs generated by RNA polymerase II.
nucleolus	A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.
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.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

2 GO annotations of biological process

Name	Definition
regulation of transcription elongation by RNA polymerase II	Any process that modulates the frequency, rate or extent of transcription elongation, the extension of an RNA molecule after transcription initiation and promoter clearance by the addition of ribonucleotides, catalyzed by RNA polymerase II.
snRNA processing	Any process involved in the conversion of a primary small nuclear RNA (snRNA) transcript into a mature snRNA molecule. The primary function of snRNAs is processing pre-messenger RNA in the nucleus. They have also been shown to aid in the regulation of transcription factors (7SK RNA) or RNA polymerase II (B2 RNA), and maintaining the telomeres.

No homologous proteins in AiPD

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

10	20	30	40	50	60
MAAHLKKRVY	EEFTKVVQPQ	EEIATKKLRL	TKPSKSAALH	IDLCKATSPA	DALQYLLQFA
70	80	90	100	110	120
RKPVEAESVE	GVVRILLEHY	YKENDPSVRL	KIASLLGLLS	KTAGFSPDCI	MDDAINILQN
130	140	150	160	170	180
EKSHQVLAQL	LDTLLAIGTK	LPENQAIQMR	LVDVACKHLT	DTSHGVRNKC	LQLLGNLGSL
190	200	210	220	230	240
EKSVTKDAEG	LAARDVQKII	GDYFSDQDPR	VRTAAIKAML	QLHERGLKLH	QTIYNQACKL
250	260	270	280	290	300
LSDDYEQVRS	AAVQLIWVVS	QLYPESIVPI	PSSNEEIRLV	DDAFGKICHM	VSDGSWVVRV
310	320	330	340	350	360
QAAKLLGSME	QVSSHFLEQT	LDKKLMSDLR	RKRTAHERAK	ELYSSGEFSS	GRKWGDDAPK
370	380	390	400	410	420
EEVDTGAVNL	IESGACGAFV	HGLEDEMYEV	RIAAVEALCM	LAQSSPSFAE	KCLDFLVDMF
430	440	450	460	470	480
NDEIEEVRLQ	SIHTMRKISN	NITLREDQLD	TVLAVLEDSS	RDIREALHEL	LCCTNVSTKE
490	500	510	520	530	540
GIHLALVELL	KNLTKYPTDR	DSIWKCLKFL	GSRHPTLVLP	LVPELLSTHP	FFDTAEPDMD
550	560	570	580	590	600
DPAYIAVLVL	IFNAAKTCPT	MPALFSDHTF	RHYAYLRDSL	SHLVPALRLP	GRKLVSSAVS
610	620	630	640	650	660
PSIIPQEDPS	QQFLQQSLER	VYSLQHLDPQ	GAQELLEFTI	RDLQRLGELQ	SELAGVADFS
670	680	690	700	710	720
ATYLRCQLLL	IKALQEKLWN	VAAPLYLKQS	DLASAAAKQI	MEETYKMEFM	YSGVENKQVV
730	740	750	760	770	780
IIHHMRLQAK	ALQLIVTART	TRGLDPLFGM	CEKFLQEVDF	FQRYFIADLP	HLQDSFVDKL
790	800	810	820	830	840
LDLMPRLMTS	KPAEVVKILQ	TMLRQSAFLH	LPLPEQIHKA	SATIIEPAGE	SDNPLRFTSG
850	860	870	880	890	900
LVVALDVDAT	LEHVQDPQNT	VKVQVLYPDG	QAQMIHPKPA	DFRNPGPGRH	RLITQVYLSH
910	920	930	940	950	960
TAWTEACQVE	VRLLLAYNSS	ARIPKCPWME	GGEMSPQVET	SIEGTIPFSK	PVKVYIMPKP

ARR