AiPD: Autoinhibited Protein Database

P68431

Gene name	H3C12
Protein name	Histone H3.1
Names	Histone H3/a, Histone H3/b, Histone H3/c, Histone H3/d, Histone H3/f, Histone H3/h, Histone H3/i, Histone H3/j, Histone H3/k, Histone H3/l
Species	Homo sapiens (Human)
KEGG Pathway	hsa:8968
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-75 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-75 (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

422 structures for P68431

Entry ID	Method	Resolution	Chain	Position	Source
1CS9	NMR	-	A	131-136	PDB
1CT6	NMR	-	A	131-136	PDB
1O9S	X-ray	175 A	K/L	2-10	PDB
1Q3L	X-ray	164 A	P	2-16	PDB
2B2T	X-ray	245 A	D	2-20	PDB
2B2U	X-ray	295 A	D	2-16	PDB
2B2V	X-ray	265 A	D	2-16	PDB
2B2W	X-ray	240 A	D	2-20	PDB
2C1J	X-ray	260 A	C/D	8-15	PDB
2C1N	X-ray	200 A	C/E	8-15	PDB
2CO0	X-ray	225 A	B/D	2-16	PDB
2CV5	X-ray	250 A	A/E	1-136	PDB
2FSA	X-ray	190 A	P	2-16	PDB
2KWJ	NMR	-	B	2-21	PDB
2KWK	NMR	-	B	2-21	PDB
2L75	NMR	-	B	2-14	PDB
2LBM	NMR	-	C	2-16	PDB
2LGG	NMR	-	B	2-13	PDB
2M0O	NMR	-	B	32-42	PDB
2NDF	NMR	-	B	13-25	PDB
2NDG	NMR	-	B	13-25	PDB
2OQ6	X-ray	200 A	C/D	8-15	PDB
2OT7	X-ray	214 A	C/D	8-15	PDB
2OX0	X-ray	195 A	C/D	8-15	PDB
2RI7	X-ray	145 A	P	2-10	PDB
2RR4	NMR	-	B	2-11	PDB
2UXN	X-ray	272 A	E	2-22	PDB
2V85	X-ray	200 A	D/E	2-13	PDB
2V89	X-ray	110 A	D/E	2-10	PDB
2VNF	X-ray	176 A	B/D	2-11	PDB
2VPG	X-ray	160 A	P/R	2-19	PDB
2X0L	X-ray	300 A	C	6-17	PDB
3A1B	X-ray	229 A	A	2-21	PDB
3AFA	X-ray	250 A	A/E	1-136	PDB
3AVR	X-ray	180 A	B	18-39	PDB
3AYW	X-ray	290 A	A/E	1-136	PDB
3AZE	X-ray	300 A	A/E	1-136	PDB
3AZF	X-ray	270 A	A/E	1-136	PDB
3AZG	X-ray	240 A	A/E	1-136	PDB
3AZH	X-ray	349 A	A/E	1-136	PDB
3AZI	X-ray	270 A	A/E	1-136	PDB
3AZJ	X-ray	289 A	A/E	1-136	PDB
3AZK	X-ray	320 A	A/E	1-136	PDB
3AZL	X-ray	270 A	A/E	1-136	PDB
3AZM	X-ray	289 A	A/E	1-136	PDB
3AZN	X-ray	300 A	A/E	1-136	PDB
3B95	X-ray	299 A	P	2-16	PDB
3FDT	X-ray	200 A	T	2-16	PDB
3KMT	X-ray	178 A	G/H/I	26-33	PDB
3KQI	X-ray	178 A	B	2-13	PDB
3LQI	X-ray	192 A	R/S/T	2-10	PDB
3LQJ	X-ray	190 A	Q/T	2-10	PDB
3MP1	X-ray	260 A	P	2-6	PDB
3O34	X-ray	190 A	B	14-33	PDB
3O35	X-ray	176 A	D/E	24-32	PDB
3O37	X-ray	200 A	E/F/G/H	2-11	PDB
3QJ6	X-ray	230 A	T	74-84	PDB
3RIG	X-ray	200 A	C/D	5-16	PDB
3RIY	X-ray	155 A	C/D	5-16	PDB
3SOU	X-ray	180 A	D/E	2-10	PDB
3SOW	X-ray	195 A	C/D	2-10	PDB
3U31	X-ray	220 A	B	5-14	PDB
3U3D	X-ray	240 A	B	5-14	PDB
3U4S	X-ray	215 A	C/D	8-15	PDB
3U5N	X-ray	195 A	C/D	2-21	PDB
3U5O	X-ray	270 A	I/J/K/L/M/N/O/P	2-23	PDB
3U5P	X-ray	280 A	I/J/K/L/M/N/O/P	2-29	PDB
3UEE	X-ray	261 A	B/D	2-13	PDB
3UEF	X-ray	245 A	B/D	2-13	PDB
3UIG	X-ray	240 A	P/Q	2-16	PDB
3UII	X-ray	260 A	P/Q	2-11	PDB
3UIK	X-ray	270 A	P/Q	2-11	PDB
3V43	X-ray	147 A	Q	2-19	PDB
3W96	X-ray	300 A	A/E	1-136	PDB
3W97	X-ray	320 A	A/E	1-136	PDB
3W98	X-ray	342 A	A/E	29-136	PDB
3W99	X-ray	300 A	A/E	1-136	PDB
3WA9	X-ray	307 A	A/E	1-136	PDB
3WAA	X-ray	320 A	A/E	1-136	PDB
3WKJ	X-ray	280 A	A/E	1-136	PDB
3X1S	X-ray	281 A	A/E	2-136	PDB
3X1T	X-ray	281 A	A/E	2-136	PDB
3X1U	X-ray	325 A	A/E	2-136	PDB
3X1V	X-ray	292 A	A/E	2-136	PDB
3ZG6	X-ray	220 A	F	5-14	PDB
3ZVY	X-ray	195 A	C/D	2-9	PDB
4A0J	X-ray	280 A	C/D	2-7	PDB
4A0N	X-ray	274 A	C	2-7	PDB
4A7J	X-ray	190 A	B	1-16	PDB
4BD3	NMR	-	B	32-42	PDB
4C1Q	X-ray	230 A	C	2-10	PDB
4F4U	X-ray	200 A	C/D	5-16	PDB
4F56	X-ray	170 A	C/D	5-16	PDB
4FWF	X-ray	270 A	E	2-21	PDB
4HON	X-ray	180 A	F/G	7-16	PDB
4I51	X-ray	190 A	C/D	4-12	PDB
4L7X	X-ray	135 A	U	2-13	PDB
4LK9	X-ray	160 A	B	2-22	PDB
4LKA	X-ray	161 A	B	2-22	PDB
4LLB	X-ray	250 A	C/D	2-22	PDB
4LXL	X-ray	187 A	D	8-15	PDB
4N4H	X-ray	230 A	B	22-43	PDB
4QBQ	X-ray	241 A	P	2-9	PDB
4QBR	X-ray	190 A	E/P	2-8	PDB
4QBS	X-ray	180 A	P	2-8	PDB
4TN7	X-ray	220 A	E/F	30-44	PDB
4U68	X-ray	180 A	D/E/F	5-15	PDB
4UP0	X-ray	128 A	F	2-16	PDB
4UY4	X-ray	186 A	C/D	2-7	PDB
4X3K	X-ray	145 A	C/D	24-30	PDB
4Y6L	X-ray	160 A	C/D	7-13	PDB
4YHP	X-ray	253 A	P/Q	2-17	PDB
4YHZ	X-ray	230 A	P	2-13	PDB
4YM5	X-ray	400 A	A/E	1-136	PDB
4YM6	X-ray	351 A	A/E	1-136	PDB
4Z0R	X-ray	175 A	D	2-16	PDB
4Z2M	X-ray	298 A	G/I	35-136	PDB
5AV5	X-ray	240 A	A/E	1-136	PDB
5AV6	X-ray	220 A	A/E	1-136	PDB
5AV8	X-ray	220 A	A/E	1-136	PDB
5AV9	X-ray	220 A	A/E	1-136	PDB
5AVB	X-ray	240 A	A/E	1-136	PDB
5AVC	X-ray	240 A	A/E	1-136	PDB
5B24	X-ray	360 A	A/E	1-136	PDB
5B2I	X-ray	300 A	A/E	1-136	PDB
5B2J	X-ray	260 A	A/E	1-136	PDB
5B31	X-ray	220 A	A/E	1-136	PDB
5C11	X-ray	280 A	B	2-11	PDB
5C13	X-ray	210 A	D/F/H/P	2-11	PDB
5C3I	X-ray	350 A	B/F/J/N/R/V	1-136	PDB
5CPI	X-ray	290 A	A/E	1-136	PDB
5CPJ	X-ray	315 A	A/E	1-136	PDB
5CPK	X-ray	263 A	A/E	1-136	PDB
5D6Y	X-ray	229 A	a/b/c/d	20-29	PDB
5DAH	X-ray	261 A	C/D	20-30	PDB
5FB0	X-ray	270 A	D/F	2-16	PDB
5FB1	X-ray	210 A	C	2-16	PDB
5FFV	X-ray	130 A	C/D	10-20	PDB
5GH9	X-ray	145 A	B	45-58	PDB
5GSE	X-ray	314 A	A/E/K/O	1-136	PDB
5GSU	X-ray	310 A	A/E	2-136	PDB
5GT0	X-ray	282 A	A/E	2-136	PDB
5GT3	X-ray	291 A	A/E	2-136	PDB
5GTC	X-ray	270 A	A/E	1-136	PDB
5H6Q	X-ray	253 A	C	2-21	PDB
5H6R	X-ray	260 A	C	2-21	PDB
5HJB	X-ray	270 A	B	4-9	PDB
5HJC	X-ray	260 A	B	16-24	PDB
5HJD	X-ray	281 A	B/D/F/H/I/J/L/M	15-21	PDB
5HYN	X-ray	295 A	D/I/O/T	22-34	PDB
5IQL	X-ray	210 A	B	25-32	PDB
5J3V	X-ray	305 A	C/D	12-28	PDB
5J9S	X-ray	270 A	B	16-40	PDB
5JHN	X-ray	167 A	F/G	4-14	PDB
5JIN	X-ray	185 A	F/G	4-14	PDB
5JIY	X-ray	148 A	F/G	4-14	PDB
5JJ0	X-ray	172 A	F/G	4-14	PDB
5JRG	X-ray	250 A	A/E	1-136	PDB
5KJH	X-ray	227 A			PDB
5KJI	X-ray	271 A	E	19-38	PDB
5KKL	X-ray	294 A	B	23-27	PDB
5LUG	X-ray	170 A	E/F/G/H	2-11	PDB
5M5G	X-ray	227 A	D	23-33	PDB
5MR8	X-ray	174 A	C	2-10	PDB
5NNC	X-ray	222 A	C/D	5-21	PDB
5NND	X-ray	182 A	D/E	5-21	PDB
5OY3	X-ray	214 A	B	18-34	PDB
5SVX	X-ray	156 A	B	2-12	PDB
5SVY	X-ray	105 A	B	2-12	PDB
5SZB	X-ray	120 A	H	2-19	PDB
5SZC	X-ray	119 A	H	2-19	PDB
5T0K	X-ray	170 A	P/Q	2-16	PDB
5T0M	X-ray	190 A	C/P	2-16	PDB
5T1G	X-ray	190 A	B	39-53	PDB
5T1I	X-ray	160 A	C	39-53	PDB
5T8R	X-ray	240 A	E/G	2-11	PDB
5TBN	NMR	-	C	2-12	PDB
5TDR	X-ray	142 A	B	2-12	PDB
5TDW	X-ray	170 A	B	2-12	PDB
5U2J	X-ray	160 A	C/D	2-17	PDB
5V21	X-ray	242 A	B	30-44	PDB
5V22	X-ray	240 A	B	30-44	PDB
5VA6	X-ray	240 A	C/D	20-37	PDB
5VAB	X-ray	170 A	F	2-11	PDB
5VGE	X-ray	260 A	C	41-49	PDB
5VNB	X-ray	240 A	K	22-31	PDB
5WFC	X-ray	228 A	D	23-33	PDB
5WLE	X-ray	195 A	C	2-13	PDB
5WVO	X-ray	200 A	D	2-37	PDB
5WXG	X-ray	170 A	P	2-8	PDB
5WXH	X-ray	130 A	D/P	2-8	PDB
5WYI	X-ray	200 A	E	120-127	PDB
5X60	X-ray	269 A	C	2-21	PDB
5XF3	X-ray	260 A	A/E	1-136	PDB
5XF4	X-ray	287 A	A/E	1-136	PDB
5XF5	X-ray	282 A	A/E	1-136	PDB
5XFQ	X-ray	240 A	E/F	30-42	PDB
5XFR	X-ray	225 A	C/D	34-41	PDB
5XNV	X-ray	270 A	B	25-32	PDB
5XTZ	X-ray	210 A	E	23-32	PDB
5Y0C	X-ray	209 A	A/E	1-136	PDB
5Y0D	X-ray	199 A	A/E	1-136	PDB
5Y20	X-ray	241 A	P	2-8	PDB
5Y2F	X-ray	253 A	C	6-14	PDB
5Z23	X-ray	273 A			PDB
5Z30	X-ray	245 A	A/E	1-136	PDB
6AXJ	X-ray	238 A	E/F/G/H	22-32	PDB
6AZE	X-ray	245 A	P	2-7	PDB
6BHD	X-ray	125 A	B	4-20	PDB
6BHE	X-ray	135 A	B	4-20	PDB
6BHG	X-ray	145 A	B	4-20	PDB
6BHH	X-ray	185 A	B	4-20	PDB
6BHI	X-ray	140 A	B	5-20	PDB
6D07	X-ray	210 A	C/D	2-16	PDB
6D08	X-ray	210 A	C/D	2-16	PDB
6E83	NMR	-	A	2-13	PDB
6E86	NMR	-	A	2-9	PDB
6F6D	X-ray	182 A	B	18-34	PDB
6HKT	X-ray	970 A	A/E/K/O/U/Y/a/e/k/o/u/y	1-136	PDB
6HTS	EM	480 A	I/M	1-136	PDB
6IEU	X-ray	179 A	C	2-13	PDB
6IIS	X-ray	236 A	E/F	34-41	PDB
6IIT	X-ray	210 A	E/F	34-41	PDB
6IPU	X-ray	199 A	A/E	39-136	PDB
6IQ4	X-ray	225 A	A/E	39-136	PDB
6JOU	X-ray	217 A	A/E	1-136	PDB
6JR0	X-ray	250 A	A/E	1-136	PDB
6JR1	X-ray	240 A	A/E	1-136	PDB
6JXD	X-ray	225 A			PDB
6K1I	X-ray	275 A	A/E	1-136	PDB
6K1J	X-ray	285 A	A/E	1-136	PDB
6K1K	X-ray	220 A	A/E	1-136	PDB
6KE9	X-ray	222 A	A/E	41-136	PDB
6KVD	X-ray	221 A	A/E	1-136	PDB
6L49	EM	1890 A	K/O/S/W	1-136	PDB
6L4A	EM	1230 A	A/E/K/O/S/W	1-136	PDB
6L9H	X-ray	260 A	A/E	41-136	PDB
6L9Z	X-ray	250 A	A/E/K/O	1-136	PDB
6LA2	X-ray	389 A	A/E/K/O/U/Y/e/i	1-136	PDB
6LA8	X-ray	340 A	A/E/K/O	1-136	PDB
6LA9	X-ray	370 A	A/E/K/O	1-136	PDB
6LAB	X-ray	320 A	A/E/K/O	1-136	PDB
6LE9	X-ray	260 A	A/E	41-136	PDB
6LER	X-ray	300 A	A/E/K/O	1-136	PDB
6LS6	X-ray	220 A	C/D	4-11	PDB
6LSD	X-ray	205 A	C/D	25-32	PDB
6M3V	X-ray	460 A	A/E/K/O	1-136	PDB
6M44	X-ray	381 A	A/E/K/O	1-136	PDB
6M4D	EM	440 A	A/E	1-136	PDB
6M4G	EM	280 A	A/E	1-136	PDB
6M4H	EM	390 A	A/E	1-136	PDB
6MIL	X-ray	193 A	B/D	2-20	PDB
6MIM	X-ray	252 A	B/D	6-14	PDB
6MIN	X-ray	190 A	B	6-12	PDB
6MIO	X-ray	185 A	B	6-12	PDB
6MIQ	X-ray	175 A	C	6-12	PDB
6PA1	X-ray	301 A	C/G	41-49	PDB
6PAG	X-ray	250 A	C	41-49	PDB
6R8Y	EM	430 A	A/E	1-136	PDB
6R8Z	EM	390 A	A/E	1-136	PDB
6R90	EM	450 A	A/E	1-136	PDB
6R91	EM	410 A	A/E	1-136	PDB
6R92	EM	480 A	A/E	1-136	PDB
6R93	EM	400 A	A/E	1-136	PDB
6R94	EM	350 A	A/E	1-136	PDB
6T90	EM	305 A			PDB
6T93	EM	349 A	A/E	1-136	PDB
6UPK	EM	490 A	A/E	1-136	PDB
6UPL	EM	740 A	A/E	1-136	PDB
6USJ	EM	1050 A	A/E/K/O	1-136	PDB
6V2H	X-ray	260 A	B/D/F/H/J/L	22-33	PDB
6V2K	X-ray	260 A	A/E	1-136	PDB
6V3N	X-ray	270 A	C/D	20-33	PDB
6V41	X-ray	160 A	QQQ	2-16	PDB
6V92	EM	2000 A	a/e	1-136	PDB
6VIL	X-ray	330 A	I/J/L/M	22-34	PDB
6WAV	X-ray	170 A	E/F/G/H	32-43	PDB
6WW4	X-ray	225 A	A/B	2-7	PDB
6YIF	X-ray	181 A	D	2-13	PDB
6YIH	X-ray	255 A	D	2-13	PDB
6YOV	EM	342 A			PDB
7BWD	EM	432 A	A/E	2-136	PDB
7C0M	EM	390 A	A/E/a/e	2-136	PDB
7CCQ	EM	380 A	A/E	39-136	PDB
7CCR	EM	490 A	A/E/L/P	39-136	PDB
7CFP	X-ray	160 A	B	2-15	PDB
7CFQ	X-ray	160 A	B	2-15	PDB
7COW	X-ray	286 A	A/E/K/O	1-136	PDB
7D1Z	EM	315 A	A/E	2-136	PDB
7DBP	EM	450 A	A/E	1-136	PDB
7E8D	EM	280 A	A/E	2-136	PDB
7EBK	X-ray	174 A	B	2-25	PDB
7K5X	EM	293 A	A/E	1-136	PDB
7K5Y	EM	276 A	A/E	1-136	PDB
7K60	EM	312 A	A/E	1-136	PDB
7K61	EM	285 A	A/E	1-136	PDB
7K63	EM	303 A	A/E	1-136	PDB
7KLR	NMR	-	B	2-11	PDB
7LBK	X-ray	270 A	C/D	2-13	PDB
7LBO	X-ray	250 A	C/F	2-13	PDB
7LBP	X-ray	260 A	B/D	2-13	PDB
7LBQ	X-ray	269 A	E	2-13	PDB
7LYA	EM	291 A	A/E	1-136	PDB
7LYB	EM	328 A	A/E	1-136	PDB
7LYC	EM	294 A	A/E	1-136	PDB
7MJU	X-ray	210 A	A	2-14	PDB
7NL0	EM	350 A	A/E	1-136	PDB
7SCY	EM	410 A	A/E	1-136	PDB
7SCZ	EM	350 A	A/E	1-136	PDB
7TD5	X-ray	299 A	D/E/I/J	23-32	PDB
7U0G	EM	260 A	A/E	1-136	PDB
7U0I	EM	260 A	A/E	1-136	PDB
7U0J	EM	270 A	A/E	1-136	PDB
7V6Q	X-ray	300 A	B/F	1-136	PDB
7V90	EM	350 A	A/E	1-136	PDB
7V96	EM	392 A	A/E/K/O	1-136	PDB
7V9C	EM	450 A	A/E/K/O	1-136	PDB
7V9J	EM	800 A	A/E/K/O/S/W	1-136	PDB
7V9K	EM	810 A	A/E/K/O/S/W/a/e	1-136	PDB
7V9S	EM	1100 A	A/E/K/O/S/W	1-136	PDB
7VA4	EM	1400 A	A/E/K/O/S/W/a/e	1-136	PDB
7VZ4	EM	189 A	A/E	2-136	PDB
7W9V	EM	395 A	A/E	2-136	PDB
7X57	EM	363 A	A/C/E/G	2-136	PDB
7X58	EM	393 A	A/C/E/G	2-136	PDB
7XD1	EM	320 A	A/E	38-135	PDB
7XVL	X-ray	351 A	A/E/K/O/U/Y/e/i	1-136	PDB
7XVM	X-ray	284 A	A/E/K/O	1-136	PDB
7XX5	X-ray	319 A	A/E/K/O	1-136	PDB
7XX6	X-ray	339 A	A/E/K/O/U/Y/e/i	1-136	PDB
7XX7	X-ray	270 A	A/E/K/O	1-136	PDB
7XZX	EM	453 A	A/E	2-136	PDB
7XZY	EM	397 A	A/E	2-136	PDB
7XZZ	EM	407 A	A/E	2-136	PDB
7Y00	EM	396 A	A/E	2-136	PDB
7Y5U	EM	380 A	D	1-136	PDB
7Y5V	EM	610 A	D/I	1-136	PDB
7Y5W	EM	350 A	A/C/E/G	1-136	PDB
7Y60	EM	380 A	A/C/E/G	1-136	PDB
7Y61	EM	560 A	A/C/E/G	1-136	PDB
7Y7I	EM	342 A	A/E	1-64	PDB
7Y8R	EM	440 A	A/E	2-136	PDB
7YOZ	EM	430 A	A/C/E/G	2-136	PDB
7YQK	EM	338 A	A/E	37-136	PDB
7ZI4	EM	320 A	I/M	1-136	PDB
8DK5	EM	271 A	A/E	1-136	PDB
8EVG	EM	275 A	A/E	1-136	PDB
8EVH	EM	285 A	A/E	1-136	PDB
8EVI	EM	264 A	A/E	1-136	PDB
8EVJ	EM	410 A	A/E	1-136	PDB
8GRM	EM	305 A	A/E	38-135	PDB
8GUI	EM	281 A	A/E	1-136	PDB
8GUJ	EM	280 A	A/E	1-136	PDB
8GUK	EM	251 A	A/E	1-136	PDB
8H0V	EM	380 A	a/e	2-136	PDB
8H0W	EM	460 A	a/e	2-136	PDB
8H1T	EM	300 A	A/E	1-136	PDB
8HAG	EM	320 A	A/E	2-136	PDB
8HAH	EM	390 A	A/E	2-136	PDB
8HAI	EM	470 A	A/E	2-136	PDB
8HAJ	EM	480 A	A/E	2-136	PDB
8HAK	EM	450 A	A/E	2-136	PDB
8HAL	EM	440 A	A/E	2-136	PDB
8HAM	EM	450 A	A/E	2-136	PDB
8HAN	EM	420 A	A/E	2-136	PDB
8HE5	EM	695 A	a/e	1-136	PDB
8HLY	X-ray	200 A	B	22-27	PDB
8I60	X-ray	230 A	A/B	22-34	PDB
8IEG	EM	344 A	E/K	38-135	PDB
8IEJ	EM	312 A	E/K	38-135	PDB
8IHL	EM	764 A	A/E/K/M/Q/U	2-136	PDB
8IIY	X-ray	215 A	B/C	2-20	PDB
8IIZ	X-ray	210 A	B/C	2-33	PDB
8IJ0	X-ray	152 A	C/D	2-12	PDB
8IQF	EM	460 A	D/I	1-136	PDB
8IQG	EM	350 A	D	1-136	PDB
8J6S	EM	380 A	A/C/E/G	1-136	PDB
8J6T	EM	660 A	A/C/E/G	1-136	PDB
8JHF	EM	368 A	A/E	1-136	PDB
8JHG	EM	358 A	A/E	1-136	PDB
8JL9	EM	265 A	A/E	1-136	PDB
8JLA	EM	344 A	A/E	29-136	PDB
8OFF	EM	340 A	Ca/Cb	1-135	PDB
8OO7	EM	280 A	M/Q	2-136	PDB
8OOA	EM	318 A	M/Q	2-136	PDB
8OOP	EM	270 A	M/Q	2-136	PDB
8OOS	EM	329 A	M/Q	2-136	PDB
8OSJ	EM	620 A	A/E	1-136	PDB
8OSK	EM	360 A	A/E	1-136	PDB
8OSL	EM	490 A	A/E	1-136	PDB
8OTS	EM	330 A	A/E	1-136	PDB
8OTT	EM	330 A	A/E	40-134	PDB
8OX0	EM	252 A	A/E	1-136	PDB
8OX1	EM	270 A	A/E	1-136	PDB
8QKT	X-ray	326 A	AAA/EEE/KKK/OOO	39-136	PDB
8SMW	EM	330 A	A/E	1-136	PDB
8SMX	EM	320 A	A/E	1-136	PDB
8SMY	EM	320 A	A/E	1-136	PDB
8SMZ	EM	320 A	A/E	1-136	PDB
8SN0	EM	320 A	A/E	1-136	PDB
8SN1	EM	330 A	A/E	1-136	PDB
8SN2	EM	360 A	A/E	1-136	PDB
8SN3	EM	380 A	A/E	1-136	PDB
8SN4	EM	370 A	A/E	1-136	PDB
8SN5	EM	390 A	A/E	1-136	PDB
8SN6	EM	370 A	A/E	1-136	PDB
8SN7	EM	370 A	A/E	1-136	PDB
8SN8	EM	370 A	A/E	1-136	PDB
8SN9	EM	390 A	A/E	1-136	PDB
8SNA	EM	400 A	A/E	1-136	PDB
8SPS	EM	300 A	A/E	1-136	PDB
8SPU	EM	280 A	A/E	1-136	PDB
8SWI	X-ray	300 A	B	2-13	PDB
8SYP	EM	260 A	A/E	1-136	PDB
8TXV	EM	380 A	A/E	1-136	PDB
8TXW	EM	360 A	A/E	1-136	PDB
8TXX	EM	370 A	A/E	1-136	PDB
8U13	EM	380 A	A/E	1-136	PDB
8U14	EM	390 A	A/E	1-136	PDB
8UPF	EM	320 A	A/E	1-136	PDB
8WG5	EM	305 A	A/E	38-135	PDB
AF-P68431-F1	Predicted				AlphaFoldDB

1317 variants for P68431

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA16602872 rs1057519905 RCV000441693 RCV000420515	28	K>E	Squamous cell carcinoma of the head and neck [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000428249 rs1057519904 VAR_079018 CA16602871 RCV000417991	28	K>M	Squamous cell carcinoma of the head and neck GLM; non-brain stem pediatric glioblastoma and diffuse intrinsic pontine glioma; somatic mutation; results in a global decrease of H3K27me3 levels [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs764264135 CA363179670 RCV000984119	134	E>Q	Multiple myeloma [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs769800748	1	M>?	Variant assessed as Somatic; 0.0001878 impact. [NCI-TCGA]	No	NCI-TCGA
rs367877324	1	M>?	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs778244215	1	M>?	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs768998955	1	M>?	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs766949103	1	M>?	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA363196841 rs1249330554	2	A>D		No	ClinGen gnomAD
CA3670092 rs776406667	2	A>G		No	ClinGen ExAC gnomAD
CA363182635 rs1349285466	2	A>G		No	ClinGen gnomAD
CA3678487 rs778245917	2	A>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA363208619 rs761937041	2	A>G		No	ClinGen ExAC TOPMed gnomAD
CA363196839 rs1249330554	2	A>G		No	ClinGen gnomAD
rs1417572056 CA363208630	2	A>S		No	ClinGen gnomAD
rs897588547 CA135803037	2	A>S		No	ClinGen TOPMed gnomAD
rs758965265 CA3678486	2	A>S		No	ClinGen ExAC gnomAD
CA363186948 rs1275976747	2	A>S		No	ClinGen gnomAD
CA363177940 rs1428351348	2	A>S		No	ClinGen gnomAD
TCGA novel CA363212444 rs1311652079	2	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen gnomAD NCI-TCGA
rs776406667 CA363208290	2	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs778245917 CA3678488	2	A>V		No	ClinGen ExAC gnomAD
CA3664477 rs776340603	2	A>V		No	ClinGen ExAC TOPMed gnomAD
rs779303049 CA3665237	2	A>V		No	ClinGen ExAC gnomAD
CA3671504 rs750087996	2	A>V		No	ClinGen ExAC gnomAD
rs761264569 CA3680516	2	A>V		No	ClinGen ExAC gnomAD
CA3671145 rs761937041	2	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3680300 rs745307657	3	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
COSM1621289 rs1214166794 CA363196827	3	R>C	liver [Cosmic]	No	ClinGen cosmic curated TOPMed
CA3670093 rs545285022	3	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs763475502 CA3671502	3	R>C		No	ClinGen ExAC TOPMed gnomAD
rs936810302 CA136277989	3	R>C		No	ClinGen TOPMed
rs1426138687 CA363177949	3	R>C		No	ClinGen TOPMed gnomAD
CA3665817 rs375724815	3	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA3670094 rs545285022	3	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs773365241 CA3680515	3	R>G		No	ClinGen ExAC gnomAD
rs753112584 CA136299417	3	R>H		No	ClinGen ExAC
TCGA novel rs1364419497 CA363182650	3	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen TOPMed NCI-TCGA
CA135798102 CA3664478 CA3671501 rs759527823 rs753112584 TCGA novel rs983487687	3	R>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen TOPMed ExAC gnomAD
CA3680514 rs376571568	3	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs780691617 CA3668996	4	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA363196782 rs1272032097	4	T>I		No	ClinGen TOPMed
CA363208318 rs1172336068	4	T>I		No	ClinGen gnomAD
rs199966951 CA136256529	4	T>I	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA TOPMed
rs1373711250 CA362896826	4	T>K		No	ClinGen gnomAD
CA362879218 rs1297719047	4	T>M		No	ClinGen TOPMed
rs1426545521 CA363208311	4	T>S		No	ClinGen TOPMed gnomAD
CA363208317 rs1172336068	4	T>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs199966951 CA363177959	4	T>S		No	ClinGen 1000Genomes TOPMed
CA3671495 rs770969115	5	K>*		No	ClinGen ExAC TOPMed gnomAD
CA3680512 rs774404210	5	K>E		No	ClinGen ExAC
rs1482691981 CA363208321	5	K>E		No	ClinGen Ensembl
CA363212396 rs770969115	5	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1213017777 CA363196765	5	K>E		No	ClinGen TOPMed
CA3665234 rs780546148	5	K>I		No	ClinGen ExAC gnomAD
rs370940167 CA3665821	5	K>M		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA3665820 rs759639335	5	K>Q		No	ClinGen ExAC gnomAD
CA136256530 rs950953031	5	K>R		No	ClinGen TOPMed gnomAD
CA3678490 rs781358078	5	K>R		No	ClinGen ExAC gnomAD
rs1434099858 CA363208328	5	K>T		No	ClinGen TOPMed gnomAD
CA363182710 rs1447457563	6	Q>*		No	ClinGen TOPMed
rs564768630 CA136317971	6	Q>*		No	ClinGen 1000Genomes gnomAD
CA3664484 rs757539336	6	Q>*		No	ClinGen ExAC TOPMed
rs773373965 CA3671493	6	Q>*		No	ClinGen ExAC gnomAD
CA362888705 rs1443072275	6	Q>E		No	ClinGen gnomAD
rs930444048 rs1278314228 CA363186882 TCGA novel CA363212361	6	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen TOPMed gnomAD
CA3671492 rs772287326	6	Q>P		No	ClinGen ExAC gnomAD
CA362879230 rs1387364192	6	Q>R		No	ClinGen TOPMed
rs376049175 CA3664485	7	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA363208371 rs1294167641	7	T>M		No	ClinGen gnomAD
rs747881713 CA3671491	7	T>S		No	ClinGen ExAC gnomAD
rs1472309199 CA363177982	7	T>S		No	ClinGen TOPMed gnomAD
rs1322750404 TCGA novel CA363212339	8	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen TOPMed NCI-TCGA
CA136317996 rs1051773707	8	A>T		No	ClinGen gnomAD
rs1478747403 CA362896760	9	R>C		No	ClinGen gnomAD
CA363208399 rs1581466000	9	R>H		No	ClinGen Ensembl
rs1238547925 CA363196645	9	R>H		No	ClinGen gnomAD
CA3671143 rs768964817	9	R>H	Variant assessed as Somatic; 4.622e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1381514131 CA363177996	9	R>Q		No	ClinGen gnomAD
CA136264524 rs999100627	9	R>W		No	ClinGen TOPMed
rs1257287415 CA362879259	10	K>N		No	ClinGen gnomAD
TCGA novel CA363208430 rs1186055143	11	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen TOPMed
CA363208418 rs1581478059	11	S>P		No	ClinGen Ensembl
CA362888670 rs1581487443	11	S>P		No	ClinGen Ensembl
TCGA novel	11	S>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3665828 rs750814944	12	T>A		No	ClinGen ExAC gnomAD
rs1206377106 CA363212280	12	T>A		No	ClinGen gnomAD
CA136318066 rs1039284918	12	T>A		No	ClinGen Ensembl
CA363186813 rs1170830093	12	T>A		No	ClinGen gnomAD
rs1161634758 CA362879271	12	T>I		No	ClinGen TOPMed
CA3664489 rs144334321	12	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1305482926 CA363212270	12	T>I		No	ClinGen TOPMed gnomAD
rs1242586237 CA363208439	12	T>K		No	ClinGen TOPMed
rs1485084900 COSM1442624 CA363196567	12	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
CA363182851 rs1197109760	12	T>N		No	ClinGen gnomAD
CA362879268 rs1581457896	12	T>P		No	ClinGen Ensembl
CA362896716 rs1581494610	12	T>P		No	ClinGen Ensembl
CA362888665 rs1581487437	12	T>P		No	ClinGen Ensembl
rs1258094123 CA363196575	12	T>S		No	ClinGen TOPMed
rs144334321 CA3664490	12	T>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel CA363178031 rs779402799	13	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC gnomAD NCI-TCGA
TCGA novel rs768126021 CA3678492	13	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ExAC gnomAD
rs1385431916 CA362888659	13	G>S		No	ClinGen gnomAD
CA3664491 rs779402799	13	G>S		No	ClinGen ExAC gnomAD
TCGA novel	13	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs867237503 CA363208349	14	G>C		No	ClinGen TOPMed
rs1182947386 CA363186779	14	G>D		No	ClinGen gnomAD
CA3668991 rs754191024	14	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs201329172 CA3670102	14	G>S		No	ClinGen 1000Genomes ExAC
rs867237503 CA136277961	14	G>S		No	ClinGen TOPMed
rs747426880 CA135803018	14	G>S		No	ClinGen Ensembl
rs1424842728 CA362879284	15	K>E		No	ClinGen TOPMed
rs377253143 CA136299342	15	K>I		No	ClinGen ESP TOPMed
rs770759662 CA363178059	15	K>N		No	ClinGen ExAC TOPMed gnomAD
rs377253143 CA363212222	15	K>R		No	ClinGen ESP TOPMed
CA362896667 rs1313168848	15	K>R		No	ClinGen TOPMed
CA363182909 rs1411721987	15	K>R		No	ClinGen gnomAD
rs746629997 CA3664492	15	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1428894577 CA363182930	16	A>S		No	ClinGen TOPMed
CA363186746 rs1235221407	16	A>S		No	ClinGen gnomAD
CA363178064 rs1044684663	16	A>S		No	ClinGen Ensembl
CA363208313 rs1310616656	16	A>S		No	ClinGen TOPMed gnomAD
CA136256538 rs1044684663	16	A>T		No	ClinGen Ensembl
rs1428894577 CA363182924	16	A>T		No	ClinGen TOPMed
CA3668990 rs766806988	16	A>T		No	ClinGen ExAC gnomAD
rs1290867547 CA363212212	16	A>T		No	ClinGen gnomAD
rs1310616656 CA363208319	16	A>T		No	ClinGen TOPMed gnomAD
CA3670104 rs780270672	16	A>T		No	ClinGen ExAC gnomAD
CA363186740 rs1186633158	16	A>V		No	ClinGen gnomAD
CA363212196 rs1413589047	16	A>V		No	ClinGen gnomAD
rs1241138153 CA363208503	16	A>V		No	ClinGen TOPMed gnomAD
rs1265819917 CA363178066	16	A>V		No	ClinGen TOPMed gnomAD
rs760794650 CA3670105	17	P>A		No	ClinGen ExAC gnomAD
rs1561923815 CA362879298	17	P>A		No	ClinGen Ensembl
rs762488565 CA136256540	17	P>L		No	ClinGen Ensembl
CA363182962 rs1350355423	17	P>L		No	ClinGen gnomAD
CA363208525 rs1225824740	17	P>R		No	ClinGen gnomAD
rs760794650 CA136318113	17	P>S		No	ClinGen ExAC gnomAD
rs1034934966 CA135803005	17	P>S		No	ClinGen TOPMed gnomAD
rs904673444 CA136256539	17	P>S		No	ClinGen TOPMed
TCGA novel	18	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761284557 CA3668989	18	R>H		No	ClinGen ExAC gnomAD
rs1561914183 CA363178085	18	R>H		No	ClinGen Ensembl
CA363212177 rs1285668771	18	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs746725429 CA3665221	18	R>H		No	ClinGen ExAC gnomAD
rs746725429 CA363186710	18	R>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs371964190 CA3680505	18	R>P		No	ClinGen ESP ExAC gnomAD
TCGA novel	18	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362888615 rs755369718	19	K>*		No	ClinGen ExAC gnomAD
CA136256543 rs956414549	19	K>E		No	ClinGen TOPMed gnomAD
CA3680295 rs755369718	19	K>E		No	ClinGen ExAC gnomAD
CA3680504 rs781259778	19	K>E		No	ClinGen ExAC gnomAD
CA363178099 rs148814851	19	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA3670107 rs546816945	19	K>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA362879313 rs1475368232	19	K>R		No	ClinGen gnomAD
rs755633331 CA3671484	19	K>R		No	ClinGen ExAC gnomAD
rs765050725 CA135797478	20	Q>*		No	ClinGen Ensembl
CA3664499 rs762949563	20	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs375048781 CA363186686	20	Q>*		No	ClinGen ESP ExAC gnomAD
rs1165689563 CA362879319	20	Q>*		No	ClinGen TOPMed gnomAD
rs147903861 CA3671482 TCGA novel	20	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP ExAC gnomAD NCI-TCGA
CA362879318 rs1165689563	20	Q>E		No	ClinGen TOPMed gnomAD
rs375048781 CA3665217	20	Q>E		No	ClinGen ESP ExAC gnomAD
CA135802993 TCGA novel CA362896558 rs1003442717	20	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen TOPMed gnomAD NCI-TCGA
rs1341069950 CA363208229	20	Q>H		No	ClinGen gnomAD
rs756980243 CA363212140	20	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs772573170 CA3670109	20	Q>K		No	ClinGen ExAC gnomAD
CA3671136 TCGA novel rs746481921	20	Q>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ExAC TOPMed
rs368582653 CA3664500	20	Q>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1467430208 CA363196347	20	Q>R		No	ClinGen gnomAD
rs1315005220 CA362896547	21	L>P		No	ClinGen TOPMed
rs1428964119 CA363208581	21	L>R		No	ClinGen gnomAD
CA363196328 rs949415102	21	L>V		No	ClinGen gnomAD
rs767766242 CA363178135	22	A>D		No	ClinGen ExAC TOPMed gnomAD
rs1376372933 CA363183071	22	A>G		No	ClinGen TOPMed gnomAD
CA362896535 rs1311110530	22	A>G		No	ClinGen TOPMed gnomAD
rs765739684 CA363212115	22	A>G		No	ClinGen ExAC gnomAD
CA3665836 rs781070029	22	A>P		No	ClinGen ExAC gnomAD
CA136256547 rs1029963018	22	A>P		No	ClinGen TOPMed gnomAD
CA136256548 rs1029963018	22	A>S		No	ClinGen TOPMed gnomAD
CA363183059 rs781070029	22	A>T		No	ClinGen ExAC gnomAD
rs1561992711 CA363208589	22	A>T		No	ClinGen Ensembl
CA363178132 rs1029963018	22	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs767766242 CA3664503	22	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1376372933 CA363183073	22	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA362896532 rs1311110530	22	A>V		No	ClinGen TOPMed gnomAD
rs765739684 CA3671479	22	A>V		No	ClinGen ExAC gnomAD
CA363208211 rs1299948217	22	A>V		No	ClinGen gnomAD
CA3670114 rs200763787	23	T>A		No	ClinGen 1000Genomes ExAC
rs1395654677 CA362896530	23	T>A		No	ClinGen gnomAD
CA135797477 rs1053559452	23	T>A		No	ClinGen gnomAD
CA3664507 rs369816845	23	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA3665837 rs745690555	23	T>A		No	ClinGen ExAC gnomAD
rs1215392834 CA363178146	23	T>I		No	ClinGen gnomAD
CA3665838 rs769895262	23	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA363208199 rs1313164120	23	T>N		No	ClinGen gnomAD
rs1581457934 CA362879336	23	T>P		No	ClinGen Ensembl
CA3664508 rs369816845	23	T>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA363178144 rs1215392834	23	T>S		No	ClinGen gnomAD
rs1296885919 CA362888561	23	T>S		No	ClinGen gnomAD
rs1172690594 CA363196306	23	T>S		No	ClinGen gnomAD
rs769895262 CA363183078	23	T>S		No	ClinGen ExAC TOPMed gnomAD
CA3678497 rs773261717	24	K>*		No	ClinGen ExAC gnomAD
CA362888552 rs1350818370	24	K>*		No	ClinGen gnomAD
CA363186643 rs1402241754	24	K>E		No	ClinGen TOPMed
CA3668987 rs767713441	24	K>E		No	ClinGen ExAC TOPMed gnomAD
rs760481454 CA362879348	24	K>N		No	ClinGen ExAC TOPMed gnomAD
rs141125275 CA363178159	24	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3664512 rs779127373	25	A>E		No	ClinGen ExAC gnomAD
rs544340962 CA136318220	25	A>E		No	ClinGen ExAC TOPMed gnomAD
rs373915652 CA136299301	25	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA363183110 rs1217247868	25	A>P		No	ClinGen TOPMed gnomAD
TCGA novel	25	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1217247868 CA363183105	25	A>T		No	ClinGen TOPMed gnomAD
CA363208173 rs1174747724	25	A>T		No	ClinGen gnomAD
rs751527374 CA3670119	25	A>T		No	ClinGen ExAC TOPMed
rs755567936 CA3664511	25	A>T		No	ClinGen ExAC TOPMed gnomAD
CA3670121 rs544340962	25	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1269049636 CA362879354	25	A>V		No	ClinGen TOPMed
rs1427383033 CA363196244	25	A>V		No	ClinGen gnomAD
rs984289609 CA136264457	25	A>V		No	ClinGen Ensembl
CA3671478 rs373915652	25	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA136256555 rs779127373	25	A>V		No	ClinGen ExAC gnomAD
CA363208648 rs750274232	26	A>D		No	ClinGen ExAC TOPMed gnomAD
CA363183131 rs768776957	26	A>P		No	ClinGen ExAC gnomAD
CA362896487 rs1399680791	26	A>S		No	ClinGen gnomAD
rs768776957 CA3665841	26	A>S		No	ClinGen ExAC gnomAD
CA3664513 rs748566156	26	A>S		No	ClinGen ExAC gnomAD
CA3664514 rs748566156	26	A>T		No	ClinGen ExAC gnomAD
CA136264454 rs938652819	26	A>T		No	ClinGen TOPMed
CA135802986 rs188857118	26	A>V		No	ClinGen 1000Genomes
CA3670123 rs750274232	26	A>V		No	ClinGen ExAC TOPMed gnomAD
CA362888517 rs1422936836	26	A>V		No	ClinGen gnomAD
rs201107084 CA3664515	26	A>V		No	ClinGen ExAC gnomAD
CA3668985 rs774476774	26	A>V		No	ClinGen ExAC gnomAD
rs769359139 CA3664517	27	R>C		No	ClinGen ExAC
rs762270941 CA3665843	27	R>H		No	ClinGen ExAC gnomAD
CA136256561 rs372738098	27	R>H		No	ClinGen ESP TOPMed gnomAD
rs372738098 CA363178180	27	R>P		No	ClinGen ESP TOPMed gnomAD
CA3664518 rs779678378	28	K>E		No	ClinGen ExAC gnomAD
TCGA novel	28	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs919101377 CA136256564	28	K>R		No	ClinGen TOPMed
rs759820470 CA3678502	28	K>R		No	ClinGen ExAC gnomAD
CA3671133 rs752358821	29	S>G		No	ClinGen ExAC gnomAD
CA362879375 rs1367384449	29	S>G		No	ClinGen gnomAD
rs1267135005 CA363178202	29	S>I		No	ClinGen gnomAD
rs141967922 CA3670125	29	S>N		No	ClinGen ESP ExAC
CA363183200 rs1414504991	29	S>N		No	ClinGen TOPMed gnomAD
CA362896441 rs1473089664	29	S>R		No	ClinGen gnomAD
rs760606364 CA3671476	29	S>R		No	ClinGen ExAC TOPMed gnomAD
rs372722417 CA135797476	29	S>R		No	ClinGen ESP TOPMed
CA3678503 rs765434342	29	S>T		No	ClinGen ExAC TOPMed gnomAD
CA363186555 rs1428125368	29	S>T		No	ClinGen gnomAD
rs1414504991 CA363183201	29	S>T		No	ClinGen TOPMed gnomAD
CA363196101 rs1484858357	30	A>S		No	ClinGen gnomAD
TCGA novel rs1236227432 CA363208105	30	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen TOPMed NCI-TCGA
CA136256568 rs929355621	30	A>T		No	ClinGen TOPMed
CA362879380 rs1211872451	30	A>T		No	ClinGen gnomAD
CA363178220 TCGA novel rs377197123	31	P>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP ExAC gnomAD NCI-TCGA
CA3678504 rs200796448	31	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs767676341 CA3671473	31	P>A		No	ClinGen ExAC gnomAD
rs1407531588 CA363186515	31	P>L		No	ClinGen gnomAD
CA363196071 rs1344624542	31	P>L		No	ClinGen gnomAD
CA363178226 rs1417367986	31	P>L		No	ClinGen gnomAD
rs767622437 CA362888452	31	P>L		No	ClinGen ExAC TOPMed gnomAD
rs762987714 CA3678505	31	P>L		No	ClinGen ExAC gnomAD
rs1422878610 CA363183240	31	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs767622437 CA3680290	31	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA3671472 rs762051815	31	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA136299273 rs762051815	31	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1417367986 CA363178224	31	P>R		No	ClinGen gnomAD
COSM1442623 rs1206226675 CA363196082	31	P>S	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA3664521 rs377197123	31	P>S		No	ClinGen ESP ExAC gnomAD
CA363186523 rs1332939009	31	P>S		No	ClinGen TOPMed
rs146067319 CA3670126	31	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1441556812 CA362888457	31	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA362879387 COSM1311904 rs200796448	31	P>S	urinary_tract [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs201553557 CA136281817	32	A>D		No	ClinGen Ensembl
rs570343303 CA3665848	32	A>D		No	ClinGen 1000Genomes ExAC gnomAD
rs1446979092 CA362879393	32	A>D		No	ClinGen gnomAD
rs755102733 CA3670127	32	A>D		No	ClinGen ExAC gnomAD
CA3680498 rs766861086	32	A>G		No	ClinGen ExAC gnomAD
CA136256573 rs926911752	32	A>G		No	ClinGen TOPMed gnomAD
CA3680289 rs761867025	32	A>P		No	ClinGen ExAC gnomAD
CA363178231 rs1362363987	32	A>P		No	ClinGen gnomAD
rs1279781729 CA362879392	32	A>P		No	ClinGen gnomAD
CA136264420 rs972497745	32	A>S		No	ClinGen TOPMed
CA363208712 TCGA novel rs1467891432	32	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen gnomAD NCI-TCGA
CA363186511 rs972497745	32	A>T		No	ClinGen TOPMed
CA3680500 rs758160804	32	A>T		No	ClinGen ExAC gnomAD
rs918019374 CA136281818	32	A>T		No	ClinGen TOPMed
rs755102733 CA363208719	32	A>V		No	ClinGen ExAC gnomAD
rs926911752 CA363178236	32	A>V		No	ClinGen TOPMed gnomAD
CA362888441 rs1469620010	32	A>V		No	ClinGen gnomAD
rs570343303 CA136257766	32	A>V	Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs1446979092 CA362879395	32	A>V		No	ClinGen gnomAD
rs766861086 COSM1209721 CA3680499	32	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
TCGA novel rs773356651 CA3664524	33	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC gnomAD NCI-TCGA
CA3670128 rs778796030	33	T>A		No	ClinGen ExAC gnomAD
TCGA novel	33	T>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA363211964 rs1294459201	33	T>I		No	ClinGen gnomAD
CA363178246 rs760955982	33	T>I		No	ClinGen ExAC TOPMed gnomAD
CA3665850 rs763646687	33	T>I		No	ClinGen ExAC gnomAD
rs1581466109 CA363208724	33	T>M		No	ClinGen Ensembl
rs775297766 CA3668982	33	T>N		No	ClinGen ExAC gnomAD
CA363186498 rs752485840	33	T>N		No	ClinGen ExAC gnomAD
CA362879396 rs764631798	33	T>P		No	ClinGen ExAC gnomAD
CA3680288 rs751750041	33	T>S		No	ClinGen ExAC gnomAD
CA3664525 rs760955982	33	T>S		No	ClinGen ExAC TOPMed gnomAD
CA3665209 rs752485840	33	T>S		No	ClinGen ExAC gnomAD
rs764631798 CA3678506	33	T>S		No	ClinGen ExAC gnomAD
CA3671469 rs1373122224	33	T>S		No	ClinGen gnomAD
CA136256578 rs202236931	34	G>A		No	ClinGen ExAC TOPMed gnomAD
CA3671129 rs570000637	34	G>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA363208052 rs1482403428	34	G>C		No	ClinGen gnomAD
rs570000637 CA3671128	34	G>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1407419197 CA363208732	34	G>D		No	ClinGen gnomAD
rs202236931 CA3664529	34	G>D		No	ClinGen ExAC TOPMed gnomAD
CA363178251 rs759927375	34	G>R		No	ClinGen ExAC TOPMed gnomAD
CA363208731 TCGA novel rs1419668277	34	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen TOPMed NCI-TCGA
rs759927375 CA3664528	34	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1341111996 CA363196025	34	G>S		No	ClinGen gnomAD
rs758782004 CA3664531	35	G>A		No	ClinGen ExAC gnomAD
rs937481392 CA135798141	35	G>D		No	ClinGen TOPMed
CA135802985 rs113019637	35	G>D		No	ClinGen gnomAD
CA363178262 rs758782004	35	G>D		No	ClinGen ExAC gnomAD
rs1197825644 CA363178257	35	G>S		No	ClinGen TOPMed
rs1581448635 CA363195975	36	V>G		No	ClinGen Ensembl
rs750099035 CA3664533	36	V>G		No	ClinGen ExAC gnomAD
rs926284215 CA135797472	36	V>I		No	ClinGen Ensembl
TCGA novel rs1446828879 CA362896345	36	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen TOPMed
rs1269102218 CA363178267	36	V>M		No	ClinGen TOPMed
CA136299246 rs567908596	36	V>M		No	ClinGen 1000Genomes
rs750695288 CA3678510	37	K>*		No	ClinGen ExAC gnomAD
rs1581633884 CA363186435 VAR_079019 RCV001027645	37	K>I	probable disease-associated variant found in pediatric undifferentiated soft tissue sarcoma samples; somatic mutation; results in global decrease of H3K36me2 and H3K36me3 levels and increased H3K27me3 levels [UniProt]	No	ClinGen ClinVar Ensembl dbSNP UniProt
VAR_079020	37	K>M	probable disease-associated variant found in pediatric undifferentiated soft tissue sarcoma samples; somatic mutation; also found in a subset of human papillomavirus-negative head and neck squamous cell carcinomas; results in global decrease of H3K36me2 and H3K36me3 levels and increased H3K27me3 levels [UniProt]	No	UniProt
CA363208011 rs1485980644	37	K>R		No	ClinGen TOPMed
rs1341954172 CA363211919	37	K>R		No	ClinGen TOPMed
CA3664536 rs748871109	38	K>E		No	ClinGen ExAC gnomAD
CA362888373 rs1290525650	38	K>E		No	ClinGen gnomAD
CA362896290 TCGA novel rs1256873033	38	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen gnomAD NCI-TCGA
rs781172380 CA3668979	38	K>N		No	ClinGen ExAC gnomAD
rs1561919109	38	K>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA363195929 rs1581448623	38	K>T		No	ClinGen Ensembl
TCGA novel	39	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1172987212 CA362879437	39	P>L		No	ClinGen gnomAD
rs765944241 CA3665204	39	P>L		No	ClinGen ExAC gnomAD
CA363178310 rs1175977447	39	P>L		No	ClinGen gnomAD
rs778404674 CA3670131	39	P>L		No	ClinGen ExAC gnomAD
rs780883968 CA3671461	39	P>L		No	ClinGen ExAC gnomAD
CA3680286 rs762695270	39	P>L		No	ClinGen ExAC gnomAD
rs778702993 CA3678512	39	P>S		No	ClinGen ExAC gnomAD
rs1180598946 CA363178305	39	P>S		No	ClinGen gnomAD
rs745311115 CA3671462	39	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1327034049 CA363195903	39	P>S		No	ClinGen TOPMed
CA362888360 rs1216887520	39	P>T		No	ClinGen gnomAD
rs1581477970 CA363207984	39	P>T		No	ClinGen Ensembl
CA363178316 rs1581627394	40	H>P		No	ClinGen Ensembl
CA363195869 rs1581448615	40	H>P		No	ClinGen Ensembl
TCGA novel rs768992071 CA3670132	40	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ExAC gnomAD
rs1223690434 CA362888350	40	H>Y		No	ClinGen gnomAD
rs888822415 CA135802980	40	H>Y		No	ClinGen Ensembl
CA3664539 rs748082521	40	H>Y		No	ClinGen ExAC gnomAD
CA3678515 rs576862710	41	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA136256584 rs1009313088	41	R>H		No	ClinGen Ensembl
CA3680283 rs759503770	41	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1561980553 CA363195833	41	R>P		No	ClinGen Ensembl
rs1399503986 CA362896261	41	R>S		No	ClinGen TOPMed
rs1479424171 CA363208799	41	R>S		No	ClinGen gnomAD
TCGA novel	41	R>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA363186352 rs771665688	42	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs763229395 CA3671125	42	Y>*		No	ClinGen ExAC gnomAD
rs999260204 CA136264345	42	Y>C		No	ClinGen Ensembl
CA136318284 rs761664745	42	Y>C		No	ClinGen Ensembl
CA363178335 rs1561914285	42	Y>H		No	ClinGen Ensembl
rs1365353389	42	Y>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1581448607 CA363195816	42	Y>S		No	ClinGen Ensembl
CA363183418 rs1319062216	43	R>C		No	ClinGen gnomAD
rs374670196 CA136318290	43	R>C		No	ClinGen ESP TOPMed gnomAD
CA3671459 rs746712091	43	R>C		No	ClinGen ExAC TOPMed gnomAD
rs775230480 CA3670134	43	R>H		No	ClinGen ExAC gnomAD
rs1042668277 CA136257800	43	R>H		No	ClinGen TOPMed
CA363211825 rs1561767100	43	R>H		No	ClinGen Ensembl
rs866029344 CA136264339	43	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA3680496 rs750959072	43	R>K		No	ClinGen ExAC gnomAD
rs1561914293 CA363178349	43	R>P		No	ClinGen Ensembl
CA3664542 rs760862356	43	R>W		No	ClinGen ExAC TOPMed gnomAD
rs746545992 CA3668976	43	R>W		No	ClinGen ExAC gnomAD
rs755365560 CA3671458	44	P>A		No	ClinGen ExAC TOPMed gnomAD
rs138723860 CA136256587	44	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs759313272 CA3664546	44	P>L		No	ClinGen ExAC TOPMed gnomAD
CA363211812 rs1581488385	44	P>L		No	ClinGen Ensembl
CA3670137 rs773798961	44	P>L		No	ClinGen ExAC gnomAD
CA3664545 rs759313272	44	P>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel rs138951289 CA3670136	44	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP ExAC TOPMed gnomAD NCI-TCGA
rs755365560 CA3671457	44	P>S		No	ClinGen ExAC TOPMed gnomAD
CA3678520 rs770045798	44	P>S		No	ClinGen ExAC gnomAD
rs138723860 CA3664544	44	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA136281755 rs919801700	44	P>S		No	ClinGen gnomAD
TCGA novel	44	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	45	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362888261 rs1455601424	45	G>R		No	ClinGen gnomAD
rs1431471226 CA363211808	45	G>R		No	ClinGen TOPMed
rs770032800 CA3665198	45	G>S		No	ClinGen ExAC gnomAD
rs1024632519 CA136318318	45	G>S		No	ClinGen TOPMed
CA136256592 TCGA novel rs1027722344	46	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen TOPMed
TCGA novel	46	T>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776497019 CA3680281	46	T>N		No	ClinGen ExAC gnomAD
CA363195651 rs1339846386	46	T>R		No	ClinGen TOPMed
TCGA novel	46	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761774986 CA3680493	47	V>L		No	ClinGen ExAC gnomAD
CA363211784 rs1237580190	47	V>M		No	ClinGen gnomAD
rs760490205 CA3670141	48	A>P		No	ClinGen ExAC gnomAD
CA362896135 rs1444864191	48	A>S		No	ClinGen gnomAD
CA3665861 rs749844493	48	A>S		No	ClinGen ExAC gnomAD
rs1316878329 CA363211767	48	A>S		No	ClinGen gnomAD
rs752021053 CA363178391	48	A>S		No	ClinGen ExAC TOPMed gnomAD
CA363208860 rs760490205	48	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA363207853 rs1334602572	48	A>S		No	ClinGen gnomAD
rs1156375401 CA363186280	48	A>S		No	ClinGen gnomAD
CA3664550 rs752021053	48	A>T		No	ClinGen ExAC TOPMed gnomAD
rs777522650 CA3680278	48	A>T		No	ClinGen ExAC gnomAD
CA363207846 rs1397490114	48	A>V		No	ClinGen gnomAD
rs1296440016 CA363208864	48	A>V		No	ClinGen TOPMed
CA363195574 rs1474513182	49	L>P		No	ClinGen gnomAD
TCGA novel	49	L>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753456224 CA3664553	50	R>C		No	ClinGen ExAC gnomAD
CA3671455 rs766740676	50	R>C		No	ClinGen ExAC gnomAD
CA3680275 rs780482781	50	R>S		No	ClinGen ExAC gnomAD
rs200711599 CA3671453	51	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs1468692664 CA363208879	51	E>*		No	ClinGen gnomAD
CA363186253 rs1192642282	51	E>*		No	ClinGen gnomAD
TCGA novel	51	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	51	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	51	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3664555 rs202025373	52	I>N		No	ClinGen 1000Genomes ExAC gnomAD
CA363178435 rs202025373	52	I>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1194666237 CA363207796	52	I>T		No	ClinGen TOPMed
CA363178431 rs1456613644	52	I>V		No	ClinGen gnomAD
rs1377708081 TCGA novel CA363208895	53	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA363211697 rs1325544768	53	R>C		No	ClinGen gnomAD
rs775747839 CA3680486	53	R>H		No	ClinGen ExAC TOPMed gnomAD
CA3670143 rs754098680	53	R>H		No	ClinGen ExAC gnomAD
CA3664557 rs375806551	53	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA363211693 rs1436060145	53	R>H		No	ClinGen gnomAD
CA3671119 rs747008909	53	R>L		No	ClinGen ExAC gnomAD
CA363178441 rs1460908403	53	R>S		No	ClinGen TOPMed gnomAD
rs779848426 CA3680273	54	R>C		No	ClinGen ExAC
rs755226121 CA3670144	54	R>C		No	ClinGen ExAC
CA136277887 rs993332591	54	R>C		No	ClinGen TOPMed
rs896508299 CA135798177	54	R>C		No	ClinGen Ensembl
CA3664560 rs375552711	54	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs767623078 CA3671452	54	R>G		No	ClinGen ExAC gnomAD
rs375552711 CA3664559	54	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1347100402 rs1343210635 CA363195460 rs764186127 CA3678523 CA363178457 TCGA novel CA3670145 rs371874494	54	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ESP ExAC gnomAD TOPMed
rs764186127 CA3678524	54	R>L		No	ClinGen ExAC gnomAD
rs987600679 CA136277878	54	R>L		No	ClinGen Ensembl
rs1056015578 CA363186174 CA136264286	55	Y>*		No	ClinGen TOPMed gnomAD
rs1561914338 CA363178468 CA363195453 rs1248737581 TCGA novel	55	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen Ensembl gnomAD
rs758523265 CA3670147	55	Y>F		No	ClinGen ExAC gnomAD
CA363186190 rs1471034494	55	Y>H		No	ClinGen TOPMed
rs1457183649 CA362895899	55	Y>N		No	ClinGen gnomAD
rs1214408667 CA362888150	55	Y>N		No	ClinGen gnomAD
rs1432340446 CA362888134	56	Q>*		No	ClinGen gnomAD
rs1415819059 CA363183598	56	Q>*		No	ClinGen gnomAD
rs138229455 CA3664562	56	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs1270506445 CA363195416	56	Q>*		No	ClinGen TOPMed gnomAD
rs754789174 CA3670149	56	Q>*		No	ClinGen ExAC gnomAD
CA363211647 rs1453083205	56	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs771339762 CA3670150	56	Q>R		No	ClinGen ExAC gnomAD
CA363211625 rs1176620214	57	K>R		No	ClinGen gnomAD
rs777262412 CA3671118	57	K>R		No	ClinGen ExAC
rs781590720 CA3680272	57	K>R		No	ClinGen ExAC gnomAD
CA362888105 rs757306085	58	S>A		No	ClinGen ExAC gnomAD
CA3671448 TCGA novel rs150574838	58	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP ExAC TOPMed gnomAD NCI-TCGA
CA3680271 rs757306085	58	S>T		No	ClinGen ExAC gnomAD
TCGA novel	58	S>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1267317227 CA363195330	58	S>*		No	ClinGen gnomAD
CA362879553 rs1467797195	58	S>A		No	ClinGen TOPMed
CA363207709 rs1293611508	58	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA3665190 rs765126317	59	T>A		No	ClinGen ExAC gnomAD
rs144238254 CA3664566	59	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA3680270 rs751668453	59	T>A		No	ClinGen ExAC gnomAD
COSM3948909 CA3678526 rs767895248	59	T>I	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA136299106 rs561365414	59	T>I		No	ClinGen Ensembl
CA3680485 rs769575091	59	T>I		No	ClinGen ExAC gnomAD
CA363195311 rs763108088	59	T>I		No	ClinGen ExAC gnomAD
CA3668965 rs763108088	59	T>S		No	ClinGen ExAC gnomAD
CA3671444 rs776262451	59	T>S		No	ClinGen ExAC gnomAD
CA136256599 rs973298411	59	T>S		No	ClinGen TOPMed gnomAD
rs767895248 CA135798188	59	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3671443 rs551433845	60	E>*		No	ClinGen 1000Genomes ExAC gnomAD
CA363183686 rs1251792757	60	E>*		No	ClinGen TOPMed
rs753823527 CA363186106	60	E>*		No	ClinGen ExAC gnomAD
rs375842011 CA3670153	60	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs562561120 CA135798197	60	E>D		No	ClinGen 1000Genomes
CA3680484 rs745705810	60	E>D		No	ClinGen ExAC gnomAD
rs761350558 CA3670155	60	E>D		No	ClinGen ExAC TOPMed gnomAD
rs775620987 CA3668964	60	E>D		No	ClinGen ExAC gnomAD
rs373244072 CA135797465	60	E>D		No	ClinGen ExAC TOPMed
CA3671442 rs528145508	60	E>D		No	ClinGen 1000Genomes ExAC gnomAD
CA363195299 rs1292574142	60	E>G		No	ClinGen gnomAD
CA3664568 rs762190561	60	E>G		No	ClinGen ExAC gnomAD
CA3665188 rs753823527	60	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs375842011 CA3670154	60	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs375842011 CA363208935	60	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	60	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3670156 rs771526926	61	L>F		No	ClinGen ExAC gnomAD
CA363208940 rs771526926	61	L>I		No	ClinGen ExAC gnomAD
TCGA novel	61	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1017859714 CA136281687	61	L>Q		No	ClinGen Ensembl
CA363183711 rs1581640521	61	L>R		No	ClinGen Ensembl
rs778383387 CA3671115	61	L>V		No	ClinGen ExAC gnomAD
CA363183708 rs1001071216	61	L>V		No	ClinGen TOPMed gnomAD
rs368983378 CA3664569	61	L>V		No	ClinGen ESP ExAC gnomAD
rs777500543 CA363211560	61	L>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel rs1026102996 CA136256605	62	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen TOPMed gnomAD NCI-TCGA
rs576241434 CA3678530	62	L>R		No	ClinGen 1000Genomes ExAC gnomAD
CA3678529 TCGA novel rs541548501	62	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC gnomAD NCI-TCGA
rs754694936 CA3671114	62	L>V		No	ClinGen ExAC gnomAD
TCGA novel	62	L>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1026102996 CA136256604	62	L>V		No	ClinGen TOPMed gnomAD
CA3670159 rs370200401	63	I>F		No	ClinGen ESP ExAC gnomAD
rs370200401 CA136318517	63	I>L		No	ClinGen ESP ExAC gnomAD
rs777505253 CA136256607	63	I>L		No	ClinGen Ensembl
rs528245366 CA135797463	63	I>L		No	ClinGen 1000Genomes TOPMed gnomAD
rs776388713 CA3668961	63	I>M		No	ClinGen ExAC gnomAD
CA363207642 rs1361411844	63	I>S		No	ClinGen Ensembl
CA363211529 rs1346227481	63	I>S		No	ClinGen gnomAD
CA136299053 rs889798197	63	I>V		No	ClinGen Ensembl
rs528245366 CA135797462	63	I>V		No	ClinGen 1000Genomes TOPMed gnomAD
CA136318518 rs370200401	63	I>V		No	ClinGen ESP ExAC gnomAD
CA363195219 rs1561980498	64	R>C		No	ClinGen Ensembl
CA3664573 rs376740213	64	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs767531748 CA3665870	64	R>G		No	ClinGen ExAC gnomAD
CA3664572 rs376740213	64	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	64	R>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3671113 rs750789833	64	R>G		No	ClinGen ExAC gnomAD
rs777359550 CA3678532	64	R>G		No	ClinGen ExAC gnomAD
rs752242931 CA136256611	64	R>H		No	ClinGen ExAC TOPMed gnomAD
rs372622507 CA135802930	64	R>H		No	ClinGen ESP gnomAD
rs1303090279 CA363211517	64	R>L		No	ClinGen TOPMed gnomAD
rs752242931 CA3664574	64	R>P		No	ClinGen ExAC TOPMed gnomAD
rs776604676 CA3680264	64	R>P		No	ClinGen ExAC gnomAD
rs773862626 CA3665182	64	R>Q		No	ClinGen ExAC gnomAD
rs1343949085 CA363208956	64	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA363183766 TCGA novel rs1581640537	64	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Ensembl
rs776604676 CA3680263	64	R>Q		No	ClinGen ExAC gnomAD
CA363178577 rs777635695	65	K>*		No	ClinGen ExAC gnomAD
CA3668960 rs770809878	65	K>*		No	ClinGen ExAC TOPMed gnomAD
rs1263126373 CA363211511	65	K>*		No	ClinGen gnomAD
CA362888018 rs1170928046	65	K>E		No	ClinGen gnomAD
CA363183782 rs1222915763	65	K>E		No	ClinGen TOPMed gnomAD
CA3664576 rs777635695	65	K>E		No	ClinGen ExAC gnomAD
rs765419385 CA3670162	65	K>E		No	ClinGen ExAC gnomAD
CA363195159 rs1459373675	65	K>I		No	ClinGen gnomAD
rs746930188 CA3664578	65	K>N		No	ClinGen ExAC TOPMed gnomAD
rs1255819679 CA363207611	65	K>N		No	ClinGen TOPMed gnomAD
rs77404275 CA136281621	65	K>N		No	ClinGen 1000Genomes ExAC gnomAD
CA363195169 rs770809878	65	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA362895628 rs1354798588	65	K>Q		No	ClinGen gnomAD
CA3671439 rs749568034	65	K>R		No	ClinGen ExAC TOPMed gnomAD
rs900372657 CA135798213	65	K>R		No	ClinGen TOPMed
CA363211487 rs1328446528 CA363211488	66	L>F		No	ClinGen gnomAD
rs559511508 CA3680260	66	L>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA363208966 rs758573640	66	L>V		No	ClinGen ExAC gnomAD
rs760225714 CA3680261	66	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1288614107 CA362895563	67	P>A		No	ClinGen TOPMed gnomAD
rs373022940 CA363208972	67	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA3671112 rs768039332	67	P>L		No	ClinGen ExAC TOPMed gnomAD
CA3670166 rs752115135	67	P>L		No	ClinGen ExAC TOPMed gnomAD
CA3678537 rs769595845	67	P>L		No	ClinGen ExAC TOPMed gnomAD
rs747792724 CA3680258	67	P>L		No	ClinGen ExAC gnomAD
rs143364138 CA3664582	67	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1036066662 CA136264256	67	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs756545644 CA3671437	67	P>L		No	ClinGen ExAC gnomAD
rs755131918 CA3665875	67	P>L		No	ClinGen ExAC gnomAD
CA3668957 rs771550269	67	P>L		No	ClinGen ExAC gnomAD
CA136281617 rs188573880 COSM184093	67	P>S	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes NCI-TCGA TOPMed gnomAD
CA362887983 rs1298628213	67	P>S		No	ClinGen TOPMed
rs955045739 CA136257877	67	P>S		No	ClinGen TOPMed gnomAD
CA3678536 rs369791329	67	P>S		No	ClinGen ESP ExAC gnomAD
rs1329616402 CA363185997	67	P>S		No	ClinGen TOPMed
rs369516106 CA3664581	67	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA362895561 rs1288614107	67	P>S		No	ClinGen TOPMed gnomAD
rs373022940 CA3670165	67	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs369516106 CA3664580	67	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA362887978 rs1298628213	67	P>T		No	ClinGen TOPMed
CA3670168 rs781713622	68	F>I		No	ClinGen ExAC TOPMed gnomAD
CA363178605 rs749342082	68	F>L		No	ClinGen ExAC TOPMed gnomAD
CA363185987 rs1561919052	68	F>L		No	ClinGen Ensembl
rs781713622 CA136318565	68	F>L		No	ClinGen ExAC TOPMed gnomAD
rs770926912 COSM1209722 CA3680482	68	F>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1238244292 COSM1209722 CA362895545	68	F>L	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA3665877 rs576312429	68	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3664583 rs147504514	68	F>S		No	ClinGen ExAC TOPMed gnomAD
rs1581640560 CA363183842	68	F>V		No	ClinGen Ensembl
CA362895522 rs1225463589	69	Q>*		No	ClinGen TOPMed
rs1320029314 CA363208983	69	Q>*		No	ClinGen TOPMed
rs1308438490 CA363195074	69	Q>*		No	ClinGen TOPMed gnomAD
CA136299024 rs200234697	69	Q>*		No	ClinGen TOPMed
rs1018182182 CA136257912	69	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs181930473 CA3664585	69	Q>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3664586 rs181930473	69	Q>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA363195051 rs1452411933	69	Q>H		No	ClinGen gnomAD
CA3664588 rs762230859	69	Q>H		No	ClinGen ExAC gnomAD
CA136264229 rs940297172	69	Q>H		No	ClinGen TOPMed
CA3665879 rs773570245	69	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1273217079 CA362879619	69	Q>R		No	ClinGen TOPMed
CA136299019 rs998272831	69	Q>R		No	ClinGen Ensembl
rs746466177 CA362895489	70	R>C		No	ClinGen ExAC TOPMed gnomAD
CA136299018 rs139443021	70	R>C		No	ClinGen ESP gnomAD
CA135797460 rs1027454605	70	R>C		No	ClinGen gnomAD
rs1159112960 CA363183887	70	R>C		No	ClinGen TOPMed
rs1053404401 CA136256620	70	R>C		No	ClinGen TOPMed gnomAD
CA136318570 rs377081356	70	R>C		No	ClinGen ESP TOPMed
CA3668955 rs778778653	70	R>C		No	ClinGen ExAC TOPMed gnomAD
rs746466177 CA3680481	70	R>G		No	ClinGen ExAC TOPMed gnomAD
rs754667839 CA3668954	70	R>H		No	ClinGen ExAC TOPMed gnomAD
rs775221849 CA3678538	70	R>H		No	ClinGen ExAC TOPMed gnomAD
CA363210964 rs1436484851	70	R>H		No	ClinGen gnomAD
rs747499521 CA363183899	70	R>L		No	ClinGen ExAC gnomAD
rs1323509294 CA362887915	70	R>L		No	ClinGen gnomAD
CA3664589 rs373586263	70	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1167745785 CA363208993	70	R>L		No	ClinGen gnomAD
CA363178617 rs373586263	70	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1167745785 CA363208992	70	R>P		No	ClinGen gnomAD
CA3665880 rs747499521	70	R>P		No	ClinGen ExAC gnomAD
rs1323509294 CA362887916	70	R>P		No	ClinGen gnomAD
rs1027454605 CA362887923	70	R>S		No	ClinGen gnomAD
CA3680254 rs757982209	71	L>F		No	ClinGen ExAC gnomAD
rs1412191102 TCGA novel CA363208994	71	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen gnomAD
CA3670170 rs756467527	71	L>P		No	ClinGen ExAC gnomAD
TCGA novel CA3678540 rs768807762	72	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ExAC gnomAD
rs768807762 rs1581477879 CA363207518 TCGA novel CA362879637	72	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ExAC gnomAD Ensembl
rs751578458 CA3680253	72	V>I		No	ClinGen ExAC TOPMed gnomAD
rs138788484 CA3670171 CA136318581	72	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA3665883 rs149070402 CA3665882	72	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs892619198 CA136281600	72	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs751578458 CA3680252	72	V>L		No	ClinGen ExAC TOPMed gnomAD
CA136277838 rs200927302	72	V>L		No	ClinGen 1000Genomes
rs146261649 CA3671433	72	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA362879633 rs1335556733	72	V>M		No	ClinGen TOPMed gnomAD
CA136318592 rs556601521	73	R>*		No	ClinGen TOPMed
TCGA novel CA3664594 rs757843560	73	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ExAC TOPMed gnomAD
TCGA novel CA363194984 rs1581448484	73	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1346048271 CA363185926	73	R>G		No	ClinGen gnomAD
rs1290595614 CA362879642	73	R>H		No	ClinGen gnomAD
rs1290595614 CA362879641	73	R>L		No	ClinGen gnomAD
CA362887892 rs1396834312	73	R>P		No	ClinGen TOPMed gnomAD
rs867345018 CA136281598	73	R>P		No	ClinGen gnomAD
CA3670172 rs771825902	73	R>Q		No	ClinGen ExAC gnomAD
rs1396834312 CA362887890	73	R>Q		No	ClinGen TOPMed gnomAD
rs138060838 CA3680479	73	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA3665885 rs774188493	74	E>*		No	ClinGen ExAC TOPMed
rs1371505632 CA363178687	74	E>D		No	ClinGen gnomAD
CA3671432 rs764161451	74	E>D		No	ClinGen ExAC TOPMed gnomAD
rs547970213 CA3671110	74	E>D		No	ClinGen 1000Genomes ExAC gnomAD
CA363209005 rs1350006756	74	E>K		No	ClinGen gnomAD
TCGA novel CA363183941 rs774188493	74	E>Q	Variant assessed as Somatic; impact. Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ExAC TOPMed
rs1233188088 CA362879654	75	I>F		No	ClinGen gnomAD
rs758539201 CA3680250	75	I>M		No	ClinGen ExAC TOPMed gnomAD
rs752405899 CA3671430	75	I>T		No	ClinGen ExAC gnomAD
CA363185899 rs1325560590	75	I>T		No	ClinGen TOPMed gnomAD
CA363207480 rs1284648581	75	I>T		No	ClinGen gnomAD
CA3665886 rs761388983	75	I>V		No	ClinGen ExAC gnomAD
rs1451939026 CA363209014	75	I>V		No	ClinGen Ensembl
rs202172292 CA3664596	75	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs146749677 CA3668951	75	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs748472587 CA3665173	75	I>V		No	ClinGen ExAC
CA3671109 rs764699763	75	I>V		No	ClinGen ExAC gnomAD
CA3671431 rs763256085	75	I>V		No	ClinGen ExAC gnomAD
rs759536393 CA363210930	76	A>G		No	ClinGen ExAC TOPMed gnomAD
rs1340792431 CA363209024	76	A>G		No	ClinGen gnomAD
rs757203375 CA3664597	76	A>P		No	ClinGen ExAC gnomAD
CA363194908 rs1238004407	76	A>S		No	ClinGen gnomAD
CA363178709 rs757203375	76	A>T		No	ClinGen ExAC gnomAD
rs1238004407 CA363194912	76	A>T		No	ClinGen gnomAD
rs367746360 CA3680477	76	A>V		No	ClinGen ESP ExAC gnomAD
rs759536393 CA3671428	76	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1561914397 CA363178715	76	A>V		No	ClinGen Ensembl
CA362887848 rs1334849705	76	A>V		No	ClinGen gnomAD
rs1196247296 CA363178725	77	Q>*		No	ClinGen gnomAD
CA363210927 rs1249902745	77	Q>*		No	ClinGen gnomAD
rs759842484 CA3671105	77	Q>E		No	ClinGen ExAC gnomAD
rs1447093959 CA363207451	77	Q>L		No	ClinGen gnomAD
rs945477020 CA136318594	77	Q>L		No	ClinGen Ensembl
CA3671426 rs770997054	77	Q>P		No	ClinGen ExAC gnomAD
rs1489153642 CA362879669	77	Q>R		No	ClinGen TOPMed gnomAD
rs772871936 CA3671425	78	D>A		No	ClinGen ExAC gnomAD
CA363209039 rs772778888	78	D>E		No	ClinGen ExAC TOPMed gnomAD
rs754817747 CA3665172	78	D>E		No	ClinGen ExAC TOPMed gnomAD
rs376537131 CA363194840 CA3668949 COSM451020	78	D>E	breast [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA363178759 rs780375359 CA136256634	78	D>E		No	ClinGen ExAC TOPMed gnomAD
rs988968541 CA136277805	78	D>G		No	ClinGen Ensembl
CA3671424 rs772871936	78	D>G		No	ClinGen ExAC gnomAD
CA363194845 rs1262419542	78	D>G		No	ClinGen TOPMed
rs142669882 CA363194863	78	D>H		No	ClinGen ESP TOPMed gnomAD
rs1378609792 CA363207444	78	D>H		No	ClinGen TOPMed gnomAD
CA3670173 rs771579692	78	D>N		No	ClinGen ExAC TOPMed gnomAD
rs142669882 CA136281572	78	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
rs1378609792 CA363207446	78	D>N		No	ClinGen TOPMed gnomAD
rs1400672235 CA362879673	78	D>N		No	ClinGen TOPMed
CA3664600 rs756006188	78	D>N		No	ClinGen ExAC TOPMed gnomAD
CA3665889 rs561705295	78	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1224149403 CA362887832	78	D>N		No	ClinGen Ensembl
rs1561919033 CA363185873	78	D>N		No	ClinGen Ensembl
CA363194826 rs1561980456	79	F>C		No	ClinGen Ensembl
rs779010397 CA136256637	79	F>I		No	ClinGen Ensembl
rs1261388717 CA363184044	79	F>L		No	ClinGen TOPMed
rs753530015 CA3665170	79	F>L	Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA3670176 rs770824353	79	F>L		No	ClinGen ExAC TOPMed gnomAD
CA3670175 rs746512541	79	F>L		No	ClinGen ExAC gnomAD
CA3668948 rs557343198	79	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA362879688 rs1249317229	79	F>L		No	ClinGen gnomAD
rs1367884119 CA363185857	79	F>V		No	ClinGen gnomAD
CA363210906 rs1390395268	80	K>*		No	ClinGen TOPMed
rs1561914414 CA363178792	80	K>E		No	ClinGen Ensembl
rs917890383 CA136257967	80	K>E		No	ClinGen TOPMed
rs752760118 TCGA novel COSM1076725 CA3668947	80	K>N	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA ClinGen cosmic curated ExAC gnomAD
CA363185839 TCGA novel rs1353450796	80	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen gnomAD NCI-TCGA
rs538212715 CA3670177	80	K>T		No	ClinGen 1000Genomes ExAC gnomAD
rs746056479 CA136256641	81	T>A		No	ClinGen TOPMed
rs141552598 CA3671423	81	T>A		No	ClinGen ESP ExAC gnomAD
rs756087316 CA3665168	81	T>A		No	ClinGen ExAC gnomAD
rs765034358 CA3670179	81	T>A		No	ClinGen ExAC gnomAD
rs773615386 CA3678544	81	T>I		No	ClinGen ExAC TOPMed gnomAD
CA3671422 rs376255666	81	T>I		No	ClinGen ESP ExAC gnomAD
CA3680247 rs1258252794	81	T>N		No	ClinGen TOPMed gnomAD
CA362879701 rs773615386	81	T>S		No	ClinGen ExAC TOPMed gnomAD
CA363209054 rs765034358	81	T>S		No	ClinGen ExAC gnomAD
rs770778871 CA3671103	81	T>S		No	ClinGen ExAC gnomAD
rs765491903 CA3668946	81	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1365294126 CA363178839	82	D>G		No	ClinGen gnomAD
TCGA novel CA3671101 rs773077919	82	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC gnomAD NCI-TCGA
rs778917059 CA3664604	82	D>N		No	ClinGen ExAC TOPMed gnomAD
rs373685271 CA3670182	82	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	82	D>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362879703 rs1474850807	82	D>Y		No	ClinGen gnomAD
CA362879715 rs1180067418	83	L>F		No	ClinGen TOPMed
rs1464188573 CA363185798	83	L>F		No	ClinGen gnomAD
rs756514133 CA3680476	83	L>H		No	ClinGen ExAC gnomAD
CA363194738 rs200272097	83	L>M		No	ClinGen 1000Genomes ExAC gnomAD
rs772494976 CA3664606	83	L>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3671419 rs75254483	83	L>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA363209067 rs1290767694	83	L>Q		No	ClinGen gnomAD
CA3668945 rs200272097	83	L>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1561914426 CA363178872	84	R>C		No	ClinGen Ensembl
rs868712730 CA135802864	84	R>C		No	ClinGen Ensembl
rs1417456102 CA362895156	84	R>H		No	ClinGen gnomAD
rs200019525 CA136277784	84	R>H		No	ClinGen 1000Genomes ExAC gnomAD
rs983737640 CA362879720	84	R>H		No	ClinGen TOPMed gnomAD
CA3670185 rs767947981	84	R>H		No	ClinGen ExAC gnomAD
rs781608741 CA3671417	84	R>H		No	ClinGen ExAC gnomAD
rs983737640 CA135798241	84	R>L		No	ClinGen TOPMed gnomAD
rs200019525 CA3671099	84	R>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1169303539 CA362887754	84	R>P		No	ClinGen TOPMed gnomAD
rs578240635 CA3668943	84	R>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1327625572 CA363184132	84	R>S		No	ClinGen TOPMed
CA363207352 rs1207557545	85	F>C		No	ClinGen TOPMed
CA362879726 rs1232161290	85	F>C		No	ClinGen TOPMed
CA3665894 rs752964674	85	F>I		No	ClinGen ExAC gnomAD
CA363184177 rs370158525	85	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA363178889 rs1581627646	85	F>L		No	ClinGen Ensembl
rs1386536768 CA362887750	85	F>L		No	ClinGen TOPMed gnomAD
rs1466706231 TCGA novel CA363178895	86	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen gnomAD NCI-TCGA
CA136277769 rs190976340	86	Q>*		No	ClinGen 1000Genomes
rs780334091 CA3670188	86	Q>*		No	ClinGen ExAC gnomAD
CA135797457 rs963972613	86	Q>H		No	ClinGen Ensembl
CA3664608 rs372949888	86	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1369043761 CA363185751	86	Q>H		No	ClinGen TOPMed
CA3671096 rs749003248	86	Q>H		No	ClinGen ExAC gnomAD
CA3665897 rs747063074	86	Q>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA363209089 rs1334756562	86	Q>H		No	ClinGen Ensembl
CA3665896 rs527289737	86	Q>K		No	ClinGen 1000Genomes ExAC gnomAD
CA3678547 rs754197834	86	Q>R		No	ClinGen ExAC gnomAD
rs1289006279 CA363184205	86	Q>R		No	ClinGen TOPMed
CA363210867 rs1166494528	86	Q>R		No	ClinGen gnomAD
rs760540655 CA3668942	86	Q>R		No	ClinGen ExAC gnomAD
CA363207345 rs1177169564	86	Q>R		No	ClinGen Ensembl
rs750847949 CA3680475	87	S>G		No	ClinGen ExAC
rs145571906 CA3664609	87	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA136298924 rs900322167	87	S>G		No	ClinGen TOPMed
CA363185747 rs755336260	87	S>I		No	ClinGen ExAC TOPMed gnomAD
CA3665900 rs771458123	87	S>I		No	ClinGen ExAC gnomAD
rs757625758 CA3671095	87	S>I		No	ClinGen ExAC gnomAD
rs536812968 CA3664610	87	S>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3665899 rs771458123	87	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA3665162 rs755336260	87	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3680244 rs549064212	87	S>N		No	ClinGen 1000Genomes ExAC gnomAD
rs536812968 CA363178917	87	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA362895093 rs1379340615	87	S>N		No	ClinGen gnomAD
rs771901563 COSM2857941 CA3668941	87	S>N	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA363178922 CA3664613 rs769071970	87	S>R		No	ClinGen ExAC TOPMed gnomAD
rs145345783 CA3665160	87	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA3665901 CA363184235 rs201464639	87	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3668939 rs201284600	87	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs771901563 CA3668940 TCGA novel	87	S>T	Variant assessed as Somatic; 0.0 impact. Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA3665161 rs755336260	87	S>T		No	ClinGen ExAC TOPMed gnomAD
CA3664611 rs536812968	87	S>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs549064212 CA3680243	87	S>T		No	ClinGen 1000Genomes ExAC gnomAD
CA3665898 rs771458123	87	S>T		No	ClinGen ExAC gnomAD
rs757625758 CA3671094	87	S>T		No	ClinGen ExAC gnomAD
CA3670190 rs749652945	88	S>A		No	ClinGen ExAC gnomAD
CA3670191 rs534265754	88	S>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3665903 rs771352320	88	S>F		No	ClinGen ExAC TOPMed
CA3671414 rs532386575	88	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA3664614 rs112019742	88	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs751586533 TCGA novel CA3671415	88	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC gnomAD NCI-TCGA
CA363207336 rs1265784340	88	S>T		No	ClinGen TOPMed
rs532386575 CA363210854	88	S>Y		No	ClinGen ExAC gnomAD
rs773839368 CA3665157	89	A>G		No	ClinGen ExAC gnomAD
TCGA novel	89	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762470099 CA136256649	89	A>T		No	ClinGen TOPMed gnomAD
CA3670193 rs746543899	89	A>T		No	ClinGen ExAC gnomAD
CA362879756 rs1396125926	89	A>V		No	ClinGen gnomAD
CA362895041 rs1478695240	89	A>V		No	ClinGen gnomAD
rs750399719 CA3664616	89	A>V		No	ClinGen ExAC gnomAD
rs1210592442 CA363194594	89	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs770438126 CA3670194	89	A>V		No	ClinGen ExAC TOPMed gnomAD
CA362895030 rs1203335671	90	V>A		No	ClinGen TOPMed
CA363207319 rs1290585337	90	V>A		No	ClinGen gnomAD
rs963366616 CA135798251	90	V>A		No	ClinGen TOPMed
CA363207317 rs1290585337	90	V>G		No	ClinGen gnomAD
CA363194577 rs1581448428	90	V>G		No	ClinGen Ensembl
rs1581487127 CA362887673	90	V>G		No	ClinGen Ensembl
TCGA novel	90	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1248834559 CA363210846	90	V>M		No	ClinGen gnomAD
rs576338693 CA136256658	90	V>M		No	ClinGen TOPMed gnomAD
CA363194592 rs1281998710	90	V>M		No	ClinGen gnomAD
CA363185724 rs1484788093	90	V>M		No	ClinGen TOPMed gnomAD
CA363209106 rs1327989646	90	V>M		No	ClinGen TOPMed gnomAD
CA363184287 rs1180039833	90	V>M		No	ClinGen gnomAD
rs751982277 CA3671093	90	V>M		No	ClinGen ExAC gnomAD
CA362879757 rs1409580960	90	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs780000708 CA363178979 CA3664618	91	M>I		No	ClinGen ExAC TOPMed gnomAD
rs756702685 CA3678551	91	M>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1275231301 CA363210836	91	M>I		No	ClinGen gnomAD
rs754356597 CA136264143	91	M>I		No	ClinGen Ensembl
rs778091229 CA3671092	91	M>I		No	ClinGen ExAC TOPMed gnomAD
rs755916303 CA363178973	91	M>K		No	ClinGen ExAC TOPMed gnomAD
CA3678550 rs200980656	91	M>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA363185716 rs1206239328	91	M>L		No	ClinGen gnomAD
rs755916303 CA363178976	91	M>R		No	ClinGen ExAC TOPMed gnomAD
CA363185707 rs1188292385	91	M>T		No	ClinGen gnomAD
rs1472152047 CA363184324	91	M>T		No	ClinGen gnomAD
rs755916303 CA3664617	91	M>T		No	ClinGen ExAC TOPMed gnomAD
rs759342007 CA3671410	91	M>T		No	ClinGen ExAC gnomAD
rs1375445619 CA362894997	91	M>T		No	ClinGen gnomAD
CA135798255 rs200980656	91	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs764941245 CA3671411	91	M>V		No	ClinGen ExAC gnomAD
rs202067024 CA363209124	92	A>E		No	ClinGen 1000Genomes ExAC gnomAD
CA136298911 rs769641887	92	A>G		No	ClinGen TOPMed
rs970133629 CA136256667	92	A>G		No	ClinGen gnomAD
CA3664619 rs1463045135	92	A>P		No	ClinGen TOPMed gnomAD
CA362894969 rs1232728300	92	A>S		No	ClinGen TOPMed
CA3665154 rs779220917	92	A>S		No	ClinGen ExAC gnomAD
rs753699523 CA3671409	92	A>S		No	ClinGen ExAC gnomAD
rs927346584 CA135798259	92	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA363178988 rs1463045135	92	A>T		No	ClinGen TOPMed gnomAD
rs1204388524 CA363194534	92	A>V		No	ClinGen gnomAD
CA363178999 rs970133629	92	A>V		No	ClinGen gnomAD
rs202067024 CA3670197	92	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs1561942582 CA362887647	92	A>V		No	ClinGen Ensembl
rs1445668882 CA363184345	92	A>V		No	ClinGen gnomAD
rs775491644 CA3670198	93	L>M		No	ClinGen ExAC TOPMed gnomAD
CA363210825 rs1334245071	93	L>P		No	ClinGen gnomAD
CA136281460 TCGA novel rs930112338	93	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen TOPMed gnomAD NCI-TCGA
rs775491644 CA3670199	93	L>V		No	ClinGen ExAC TOPMed gnomAD
CA363179003 rs1295570129	93	L>V		No	ClinGen gnomAD
rs753809029 CA363184351	93	L>V		No	ClinGen ExAC TOPMed gnomAD
CA362887625 rs1198097387	94	Q>*		No	ClinGen TOPMed gnomAD
CA3671408 rs548529624	94	Q>*		No	ClinGen 1000Genomes ExAC
rs1243398928 CA363185675	94	Q>*		No	ClinGen TOPMed
rs764458396 CA3670200	94	Q>*		No	ClinGen ExAC gnomAD
CA3668936 rs534905286	94	Q>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1331083709 CA363184363	94	Q>K		No	ClinGen gnomAD
CA362879782 rs1244961487	94	Q>R		No	ClinGen gnomAD
CA3671407 rs760728212	95	E>*		No	ClinGen ExAC gnomAD
TCGA novel	95	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1436596944 CA363194456	95	E>V		No	ClinGen gnomAD
rs1372868131 CA362879794	96	A>S		No	ClinGen TOPMed
CA3665150 rs573923856	96	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA3680241 rs760706393	96	A>T		No	ClinGen ExAC
rs1325224286 CA363194445	96	A>T		No	ClinGen TOPMed gnomAD
CA136298901 rs916915602	96	A>T		No	ClinGen Ensembl
CA3664621 rs754109613	96	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1168338093 CA363184409	96	A>T		No	ClinGen gnomAD
CA3670202 rs761827944	96	A>T		No	ClinGen ExAC TOPMed gnomAD
CA363179074 rs1267542423	96	A>V		No	ClinGen TOPMed
rs767581284 CA3670203	96	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1479826124 CA362887583	96	A>V		No	ClinGen gnomAD
rs992932759 CA136298890	96	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA3665911 rs752518862	96	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1318210689 CA363194423	96	A>V		No	ClinGen TOPMed gnomAD
CA3678554 rs750386938	97	C>*		No	ClinGen ExAC gnomAD
CA3668934 rs747328814	97	C>*		No	ClinGen ExAC gnomAD
rs1581494422 CA362894831	97	C>G		No	ClinGen Ensembl
TCGA novel	97	C>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA363185635 CA363209151 CA362879800 rs1250265926 rs899428872 CA136318777 rs1561942570 rs1411351920 TCGA novel CA362887573 rs1326077941	97	C>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen gnomAD Ensembl TOPMed
TCGA novel	97	C>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs3752416 CA363184440	97	C>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA363179094 rs771690950	97	C>W		No	ClinGen ExAC TOPMed gnomAD
rs1159493594 CA362887569	97	C>W		No	ClinGen TOPMed
TCGA novel	98	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3680240 rs773344869	98	E>G		No	ClinGen ExAC gnomAD
rs758973961 CA3671091	98	E>G		No	ClinGen ExAC gnomAD
TCGA novel	99	A>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362887543 rs1581487099	99	A>G		No	ClinGen Ensembl
TCGA novel CA363185616 rs1167165541	99	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen gnomAD
rs935367274 CA363185614 rs1167165541 CA362894765 TCGA novel	99	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen gnomAD
CA135802844 rs935367274	99	A>T		No	ClinGen gnomAD
rs1561923987 CA362879819	99	A>V		No	ClinGen Ensembl
CA3664624 rs748134309	99	A>V		No	ClinGen ExAC TOPMed gnomAD
CA363209176 rs1466553137	100	Y>*		No	ClinGen gnomAD
rs766603144 CA3671087	100	Y>*		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	100	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1331582268 CA363207172	100	Y>D		No	ClinGen gnomAD
rs1480168103 CA362894726	100	Y>F		No	ClinGen TOPMed
CA363207174 rs1331582268	100	Y>H		No	ClinGen gnomAD
rs139095388 CA3664625	100	Y>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1413254196 CA362894743	100	Y>H		No	ClinGen TOPMed
rs1561923992 CA362879822	100	Y>H		No	ClinGen Ensembl
rs777916771 CA3665913	100	Y>H		No	ClinGen ExAC gnomAD
rs142221765 CA362887539	100	Y>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs142221765 CA3680239	100	Y>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA363185606 rs1166917029	100	Y>S		No	ClinGen gnomAD
rs747516471 TCGA novel CA3664627	101	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ExAC TOPMed gnomAD
CA3670206 rs748039771	101	L>F		No	ClinGen ExAC gnomAD
CA3671404 rs761357902	101	L>F		No	ClinGen ExAC gnomAD
CA363179153 rs771277151	101	L>F		No	ClinGen ExAC TOPMed gnomAD
rs751536007 CA3680472	101	L>M		No	ClinGen ExAC gnomAD
rs1205358122 CA363185596	101	L>S		No	ClinGen TOPMed
CA363179146 rs747516471	101	L>S		No	ClinGen ExAC TOPMed gnomAD
CA363184511 rs9461231	101	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs761245594 CA136298878	101	L>V		No	ClinGen Ensembl
CA3664626 rs778080827	101	L>V		No	ClinGen ExAC TOPMed gnomAD
rs200676364 CA136277697	101	L>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA
CA136264117 rs975981098	101	L>V		No	ClinGen TOPMed gnomAD
rs750903931 CA3670205	101	L>V		No	ClinGen ExAC
rs747516471 CA363179149	101	L>W		No	ClinGen ExAC TOPMed gnomAD
rs138505335 CA3671405	101	L>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs558511019 CA3664630	102	V>A		No	ClinGen 1000Genomes ExAC gnomAD
CA363185589 rs1273475271	102	V>A		No	ClinGen TOPMed
CA136298874 rs972848406	102	V>A		No	ClinGen Ensembl
CA362887511 rs1581487085	102	V>G		No	ClinGen Ensembl
CA3664629 rs201427664	102	V>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1445488826 CA363207142	102	V>L		No	ClinGen TOPMed gnomAD
CA136281379 rs970318085	102	V>M		No	ClinGen TOPMed gnomAD
CA363179180 rs761181867	103	G>A		No	ClinGen ExAC gnomAD
CA136281377 rs577869237	103	G>A		No	ClinGen Ensembl
CA3664633 rs761181867	103	G>E		No	ClinGen ExAC gnomAD
CA3670209 rs755307704	103	G>E		No	ClinGen ExAC TOPMed gnomAD
CA3665146 rs750983739	103	G>E		No	ClinGen ExAC gnomAD
CA363210764 rs1425798410	103	G>E		No	ClinGen TOPMed
rs373191877 CA3664632 CA3670208 rs774087030 TCGA novel	103	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ESP ExAC gnomAD
rs373191877 CA136318821	103	G>W		No	ClinGen ESP ExAC gnomAD
CA363185579 rs1195620063	104	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA136298868 rs962860248	104	L>F		No	ClinGen Ensembl
rs144478168 CA3671082	104	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1377712944 CA363209192	104	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA362879850 rs1185725802	104	L>P		No	ClinGen gnomAD
rs1390596888 CA363207111	104	L>P		No	ClinGen gnomAD
rs1245275043 CA362887489	104	L>V		No	ClinGen gnomAD
TCGA novel	105	F>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel rs907389807 CA136256687	105	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen TOPMed NCI-TCGA
rs1422016510 CA362894626	105	F>L		No	ClinGen TOPMed gnomAD
rs768298221 CA363210750	105	F>L		No	ClinGen ExAC TOPMed gnomAD
CA363184590 rs1325561730	105	F>L		No	ClinGen TOPMed
rs200762279 CA363209203	105	F>L		No	ClinGen 1000Genomes gnomAD
CA363179211 rs1447600891	105	F>L		No	ClinGen gnomAD
rs1225886571 CA363184581	105	F>S		No	ClinGen TOPMed
rs1421842363 CA363207095	105	F>S		No	ClinGen gnomAD
rs760762926 CA3664636	105	F>Y		No	ClinGen ExAC gnomAD
rs1415297418 CA362894578	106	E>K		No	ClinGen TOPMed
rs1274326890 CA363194185	107	D>E		No	ClinGen Ensembl
rs1295811312 CA363184633	107	D>G		No	ClinGen TOPMed
CA363179244 rs1394178772	107	D>G		No	ClinGen gnomAD
rs1378364928 CA363179232	107	D>N		No	ClinGen gnomAD
CA3670210 rs777435873	107	D>N		No	ClinGen ExAC gnomAD
rs139893026 CA3678561	107	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA136318869 rs777435873	107	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1378364928 CA363179233	107	D>Y		No	ClinGen gnomAD
rs746169585 CA3671401	108	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1561924068 CA363184650	108	T>A		No	ClinGen Ensembl
CA363207052 rs1561758934	108	T>A		No	ClinGen Ensembl
rs772077288 CA3678562	108	T>A		No	ClinGen ExAC gnomAD
CA363184660 rs780501933	108	T>I		No	ClinGen ExAC TOPMed gnomAD
CA3664638 rs753726051	108	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1157111620 CA363207049	108	T>N		No	ClinGen TOPMed
CA3665919 rs780501933	108	T>N		No	ClinGen ExAC TOPMed gnomAD
CA363209222 rs1365367618	108	T>N		No	ClinGen TOPMed
rs764147200 CA3680471	108	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1221178220 CA362894502	108	T>S		No	ClinGen gnomAD
CA3680235 rs563300662	108	T>S		No	ClinGen 1000Genomes ExAC
CA363184659 rs780501933	108	T>S		No	ClinGen ExAC TOPMed gnomAD
CA3668927 rs755211652	108	T>S		No	ClinGen ExAC gnomAD
CA136256690 rs753726051	108	T>S		No	ClinGen ExAC TOPMed gnomAD
CA363209229 rs565158465	109	N>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs763088293 CA3680470	109	N>K		No	ClinGen ExAC gnomAD
CA3664640 rs73387434	109	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1181573677 CA363210724	109	N>S		No	ClinGen gnomAD
rs1433580882 CA362879884	109	N>S		No	ClinGen TOPMed
CA3670212 rs565158465	109	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1158267252 CA363207036	109	N>S		No	ClinGen gnomAD
CA363179448 rs1255755682	109	N>S		No	ClinGen gnomAD
rs1433580882 CA362879883	109	N>T		No	ClinGen TOPMed
CA136298856 rs777000389	110	L>M		No	ClinGen ExAC gnomAD
CA363179453 rs561395578	110	L>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3671078 CA363209234 rs779792196 rs1443083387 TCGA novel	110	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ExAC gnomAD
CA3671079 rs748809291	110	L>V		No	ClinGen ExAC TOPMed gnomAD
CA136281332 rs372338273	111	C>*		No	ClinGen ESP TOPMed gnomAD
CA3670215 rs376871105	111	C>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1159931618 CA362879895	111	C>G		No	ClinGen TOPMed
CA3671077 rs144016889	111	C>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs761955716	111	C>R	Variant assessed as Somatic; 0.0001848 impact. [NCI-TCGA]	No	NCI-TCGA
rs1254839680 CA363179459	111	C>R		No	ClinGen gnomAD
CA3665140 rs773872188	111	C>S		No	ClinGen ExAC gnomAD
rs149609255 CA3670214	111	C>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA136256696 rs758341374	111	C>S		No	ClinGen ExAC gnomAD
CA362887390 rs771342766	111	C>W		No	ClinGen ExAC TOPMed gnomAD
CA3664642 rs758341374	111	C>Y		No	ClinGen ExAC gnomAD
rs1393133592 CA362887397	111	C>Y		No	ClinGen gnomAD
CA363206991 rs1179857080	112	A>G		No	ClinGen gnomAD
rs772873150 CA3668923	112	A>P		No	ClinGen ExAC TOPMed gnomAD
rs772413967 CA3665139	112	A>P		No	ClinGen ExAC gnomAD
rs747567301 CA136298849	112	A>P		No	ClinGen ExAC TOPMed gnomAD
rs747498005 CA136256699	112	A>S		No	ClinGen ExAC TOPMed gnomAD
CA363184722 rs1184756643	112	A>T		No	ClinGen gnomAD
CA3670216 rs144363194	112	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs747498005 CA3664644	112	A>T		No	ClinGen ExAC TOPMed gnomAD
rs747567301 CA3671398	112	A>T		No	ClinGen ExAC TOPMed gnomAD
rs772873150 CA363194097	112	A>T		No	ClinGen ExAC TOPMed gnomAD
rs747335632 CA3671076	112	A>T		No	ClinGen ExAC gnomAD
rs1268814858 CA363210704 TCGA novel	112	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen gnomAD NCI-TCGA
rs763163035	112	A>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	113	I>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747510120 CA362887374	113	I>L		No	ClinGen ExAC gnomAD
TCGA novel	113	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200228685 TCGA novel CA3665923	113	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC gnomAD NCI-TCGA
rs747510120 CA3680232	113	I>V		No	ClinGen ExAC gnomAD
CA3670217 rs749133346	113	I>V		No	ClinGen ExAC gnomAD
CA363206971 rs1355580232	114	H>D		No	ClinGen gnomAD
CA3665137 rs774336500	114	H>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs748185384 CA363210693	114	H>P		No	ClinGen ExAC TOPMed gnomAD
rs748185384 CA3671395	114	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1349044737 CA363206966	114	H>R		No	ClinGen TOPMed
CA136264074 rs774336500	114	H>Y		No	ClinGen ExAC gnomAD
CA363209256 rs1426924061	114	H>Y		No	ClinGen gnomAD
rs758807626 CA3671074	115	A>G		No	ClinGen ExAC gnomAD
rs1421952581 CA363184783	115	A>G		No	ClinGen gnomAD
rs755274030 CA3671394	115	A>G		No	ClinGen ExAC gnomAD
rs749890672 CA135797453	115	A>P		No	ClinGen Ensembl
rs535488676 CA3668922	115	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs202032296 CA136264069	115	A>S		No	ClinGen 1000Genomes
rs535488676 CA3668921	115	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1344759679 CA362894313	115	A>T		No	ClinGen TOPMed
CA363184776 rs1377734473	115	A>T		No	ClinGen TOPMed
rs1346777651 CA363209264	115	A>T		No	ClinGen TOPMed
rs1238067230 CA363210689	115	A>T		No	ClinGen gnomAD
CA363185503 rs1194497976	115	A>V		No	ClinGen TOPMed gnomAD
rs755274030 CA3671393	115	A>V		No	ClinGen ExAC gnomAD
rs758807626 CA363206949	115	A>V		No	ClinGen ExAC gnomAD
CA363210678 rs766319497	116	K>N		No	ClinGen ExAC TOPMed gnomAD
rs773819409 CA3664649	116	K>Q		No	ClinGen ExAC gnomAD
rs1424639838 CA363210685	116	K>Q		No	ClinGen gnomAD
CA3680467 rs765494141	116	K>R		No	ClinGen ExAC TOPMed gnomAD
CA362894286 rs765494141	116	K>T		No	ClinGen ExAC TOPMed gnomAD
rs749572921 CA3665135	117	R>*		No	ClinGen ExAC gnomAD
rs143514669 CA136256705	117	R>C		No	ClinGen ESP TOPMed gnomAD
rs748197388 CA3680229	117	R>C		No	ClinGen ExAC gnomAD
CA3664650 rs146760308	117	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs770392869 CA3665926	117	R>H		No	ClinGen ExAC gnomAD
CA363179524 rs146760308	117	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs759280383 CA3680466	117	R>P		No	ClinGen ExAC gnomAD
CA363206926 rs1351044583	117	R>Q		No	ClinGen TOPMed
rs1380138289 CA363184827	117	R>S		No	ClinGen gnomAD
CA3680227 rs755163039	118	V>A		No	ClinGen ExAC gnomAD
CA362887313 rs779153359	118	V>F		No	ClinGen ExAC TOPMed gnomAD
CA3680228 rs779153359	118	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1303715344 CA363209283	118	V>L		No	ClinGen TOPMed
rs1401894751 CA363210672	118	V>L		No	ClinGen gnomAD
rs1414494355 CA363193950	118	V>L		No	ClinGen gnomAD
TCGA novel	119	T>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1581488050 CA363210665	119	T>A		No	ClinGen Ensembl
CA136264059 rs547916760	119	T>I		No	ClinGen Ensembl
CA363210661 rs1383458991	119	T>I		No	ClinGen gnomAD
CA136277563 rs997160524	119	T>P		No	ClinGen TOPMed
TCGA novel CA363184859 rs1336228060	119	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen gnomAD NCI-TCGA
CA363206893 rs1336450196	120	I>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1008001463 CA136256712	120	I>L		No	ClinGen TOPMed gnomAD
CA3671388 rs750430823	120	I>M		No	ClinGen ExAC TOPMed
rs371807167 CA3668916	120	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA3680226 rs753613247	120	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1007888999 CA136258112	120	I>T		No	ClinGen gnomAD
rs756096962 CA3671389	120	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1008001463 CA363179545	120	I>V		No	ClinGen TOPMed gnomAD
CA3670220 rs762033739	120	I>V		No	ClinGen ExAC gnomAD
rs142670361 CA3668917	120	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA363206891 rs1336450196	120	I>V		No	ClinGen TOPMed
rs890784621 CA136258108	120	I>V		No	ClinGen Ensembl
CA362887289 rs1281167014	120	I>V		No	ClinGen TOPMed
rs372307805 CA3678567	120	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA363185478 rs1362284538	120	I>V		No	ClinGen gnomAD
CA3665929 TCGA novel rs41266785	121	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC gnomAD NCI-TCGA
CA363206866 rs1331046387	121	M>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA3670223 rs374204451	121	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA3664654 rs766378958	121	M>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel CA363184878 rs1277418855	121	M>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen gnomAD NCI-TCGA
rs760656886 CA3664653	121	M>L		No	ClinGen ExAC TOPMed gnomAD
rs777964061 CA3668914	121	M>L		No	ClinGen ExAC gnomAD
rs1181466609 CA363185469	121	M>L		No	ClinGen gnomAD
CA3680464 rs770711648	121	M>T		No	ClinGen ExAC gnomAD
CA363179558 rs1448034333	121	M>T		No	ClinGen TOPMed
rs1382745645 CA363209302	121	M>T		No	ClinGen TOPMed
CA3671071 rs754995074	121	M>T		No	ClinGen ExAC gnomAD
CA363193899 rs1420183562	121	M>T		No	ClinGen TOPMed
CA362887271 rs1452025102	121	M>T		No	ClinGen Ensembl
CA3670222 rs148426352	121	M>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1289788884 CA362887277	121	M>V		No	ClinGen TOPMed gnomAD
CA363184876 rs1277418855	121	M>V		No	ClinGen gnomAD
CA136298802 rs937808792	121	M>V		No	ClinGen TOPMed
rs776524828 CA3680465	121	M>V		No	ClinGen ExAC gnomAD
rs745603500 CA3665130	122	P>A		No	ClinGen ExAC gnomAD
CA3665930 rs548956477	122	P>A		No	ClinGen 1000Genomes ExAC gnomAD
CA3668913 rs772598814	122	P>A		No	ClinGen ExAC TOPMed gnomAD
CA3670224 rs766913987	122	P>H		No	ClinGen ExAC gnomAD
rs990217604 CA136264008	122	P>L		No	ClinGen Ensembl
CA3664655 rs776729477	122	P>L		No	ClinGen ExAC TOPMed gnomAD
rs766913987 CA136318984	122	P>L		No	ClinGen ExAC gnomAD
rs762724811 CA3665931	122	P>L	Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1455019791 CA363210643	122	P>L	Variant assessed as Somatic; 9.239e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA362894115 rs1399433442	122	P>L		No	ClinGen gnomAD
CA3668912 rs748604014	122	P>L		No	ClinGen ExAC gnomAD
CA3671069 rs766551981	122	P>L		No	ClinGen ExAC gnomAD
CA363179570 rs776729477	122	P>R		No	ClinGen ExAC TOPMed gnomAD
CA363179563 rs1309910648	122	P>S		No	ClinGen TOPMed gnomAD
CA3678568 rs759951492	122	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA363209309 rs1365152477	122	P>S		No	ClinGen gnomAD
rs753937797 CA3671070	122	P>S		No	ClinGen ExAC TOPMed gnomAD
rs772598814 CA136281289	122	P>T		No	ClinGen ExAC TOPMed gnomAD
rs750356284 CA3680223	122	P>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	123	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs948039279 CA135802820	123	K>E		No	ClinGen Ensembl
rs1392030714 CA363209311	123	K>E		No	ClinGen TOPMed gnomAD
rs1561766854 CA363210640	123	K>E		No	ClinGen Ensembl
CA3680221 rs761339099	123	K>R		No	ClinGen ExAC TOPMed gnomAD
CA3671384 rs761320390	123	K>R		No	ClinGen ExAC gnomAD
CA3668911 rs778975817	123	K>R		No	ClinGen ExAC gnomAD
CA363209314 rs1561993011	123	K>T		No	ClinGen Ensembl
rs764348608 CA3665932	123	K>T		No	ClinGen ExAC gnomAD
CA362887245 rs761339099	123	K>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	124	D>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3671383 rs773742191	124	D>A		No	ClinGen ExAC gnomAD
CA3665933 rs751777868	124	D>E		No	ClinGen ExAC gnomAD
rs955028263 CA136281260	124	D>G		No	ClinGen TOPMed
CA363185449 rs1270004025	124	D>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA363179585 rs752855452	124	D>N		No	ClinGen ExAC gnomAD
CA3668910 rs367717762	124	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA363184927 rs1373897096	124	D>N		No	ClinGen TOPMed
rs368380591 CA3670227	124	D>N		No	ClinGen ESP ExAC gnomAD
CA136318991 rs867758253	124	D>V		No	ClinGen Ensembl
CA3664658 rs752855452	124	D>Y		No	ClinGen ExAC gnomAD
rs765530502 CA363209326	125	I>F		No	ClinGen ExAC TOPMed gnomAD
CA3664660 rs199573090	125	I>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA362887218 rs773766489	125	I>F		No	ClinGen ExAC gnomAD
rs199573090 CA3664662	125	I>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs922296721 CA362894013	125	I>M		No	ClinGen TOPMed gnomAD
CA363209328 rs1305009188	125	I>M		No	ClinGen TOPMed gnomAD
CA362887211 rs376425183	125	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs751176237 CA136318997	125	I>N		No	ClinGen ExAC TOPMed gnomAD
rs751176237 CA3670229	125	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1443148895 CA363179600	125	I>T		No	ClinGen Ensembl
CA3665934 rs757522458	125	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1488559285 CA362879993	125	I>T		No	ClinGen TOPMed
rs773766489 CA3680220	125	I>V		No	ClinGen ExAC gnomAD
CA3668909 rs753912961	125	I>V		No	ClinGen ExAC gnomAD
CA3670228 rs765530502	125	I>V		No	ClinGen ExAC TOPMed gnomAD
rs199573090 CA3664661	125	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA136298779 rs891862849	125	I>V		No	ClinGen Ensembl
CA362894009 rs1426460223	126	Q>*		No	ClinGen gnomAD
rs750540266 CA3665936	126	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs746389934 CA3664664	126	Q>*		No	ClinGen ExAC gnomAD
rs993965587 CA136281254	126	Q>*		No	ClinGen TOPMed gnomAD
rs762621647 CA363210621	126	Q>E		No	ClinGen ExAC gnomAD
rs1025799626 CA136319018	126	Q>E		No	ClinGen TOPMed gnomAD
rs746389934 CA3664665	126	Q>E		No	ClinGen ExAC gnomAD
CA363193807 rs1271682139	126	Q>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs140324916 CA3664667 CA3664668	126	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs775189331 CA3680217	126	Q>H		No	ClinGen ExAC gnomAD
CA3665937 rs756634551	126	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA363206792 rs1297870834	126	Q>H		No	ClinGen gnomAD
rs776947316 CA3671380	126	Q>H		No	ClinGen ExAC gnomAD
rs1192169264 CA362893992	126	Q>H		No	ClinGen TOPMed gnomAD
rs752545210 CA3670230	126	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs762621647 TCGA novel CA3671381	126	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC gnomAD NCI-TCGA
rs746389934 CA363179604	126	Q>K		No	ClinGen ExAC gnomAD
rs199943654 CA3664666	126	Q>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA363179615 rs1376006955	127	L>F		No	ClinGen gnomAD
rs780694526 CA3670231	127	L>F		No	ClinGen ExAC gnomAD
rs61734000 CA3680462	127	L>F		No	ClinGen ExAC gnomAD
CA3668907 rs756269607	127	L>F		No	ClinGen ExAC gnomAD
CA363210613 rs1372616476	127	L>F		No	ClinGen gnomAD
CA3678570 rs751190554	127	L>F		No	ClinGen ExAC TOPMed gnomAD
CA136258150 rs865923635	127	L>M		No	ClinGen Ensembl
CA363193800 rs756269607	127	L>V		No	ClinGen ExAC gnomAD
CA3671067 rs750167375	127	L>V		No	ClinGen ExAC gnomAD
CA3680215 rs771253043	127	L>V		No	ClinGen ExAC gnomAD
rs199881140 CA3665126	127	L>V		No	ClinGen 1000Genomes ExAC gnomAD
CA3670232 rs749997198	128	A>D		No	ClinGen ExAC gnomAD
rs747419710 CA3680214	128	A>E		No	ClinGen ExAC TOPMed gnomAD
CA3671375 rs150252598	128	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1170910453 CA363206768	128	A>G		No	ClinGen gnomAD
CA363209341 rs1333188920	128	A>P		No	ClinGen TOPMed gnomAD
rs761740488 CA136281249	128	A>P		No	ClinGen gnomAD
rs1296150929 CA363179622	128	A>P		No	ClinGen gnomAD
CA363185015 rs1194318072	128	A>P		No	ClinGen gnomAD
TCGA novel CA3671376 rs773705643	128	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC gnomAD NCI-TCGA
rs1333188920 CA363209340	128	A>T		No	ClinGen TOPMed gnomAD
CA3680461 rs771701828	128	A>T		No	ClinGen ExAC gnomAD
CA136281251 rs761740488	128	A>T		No	ClinGen gnomAD
CA363185014 rs1194318072	128	A>T		No	ClinGen gnomAD
CA362887174 rs747419710	128	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3668906 rs750273125	128	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs746466853 CA3664670	128	A>V		No	ClinGen ExAC TOPMed gnomAD
rs749997198 CA3670233	128	A>V		No	ClinGen ExAC gnomAD
CA363179632 rs776640026	129	R>H		No	ClinGen ExAC gnomAD
CA3664672 rs776640026	129	R>P		No	ClinGen ExAC gnomAD
TCGA novel	129	R>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA363206761 TCGA novel rs1581477696	129	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen Ensembl
rs371104168 CA3664671	129	R>G		No	ClinGen ESP ExAC gnomAD
CA3671374 rs748210708	129	R>G		No	ClinGen ExAC gnomAD
CA3680213 rs773656938	129	R>H		No	ClinGen ExAC gnomAD
rs1440965480 CA362893952	129	R>S		No	ClinGen gnomAD
CA136319035 rs966515186	130	R>C		No	ClinGen Ensembl
CA3680212 rs772596697	130	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA363193753 rs1396865418	130	R>C		No	ClinGen TOPMed
rs757910438 CA3665125	130	R>C		No	ClinGen ExAC gnomAD
rs1270359117 CA363210598	130	R>C		No	ClinGen gnomAD
rs1561947224 CA362893931	130	R>C		No	ClinGen Ensembl
CA136264001 rs757910438	130	R>G		No	ClinGen ExAC gnomAD
rs759581802 TCGA novel CA3664673	130	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ExAC gnomAD
CA3668904 rs776543981	130	R>L		No	ClinGen ExAC gnomAD
CA362887152 rs1329254723	130	R>L		No	ClinGen TOPMed
rs759581802 CA363179642	130	R>L		No	ClinGen ExAC gnomAD
rs1464725630 CA363185050	130	R>L		No	ClinGen gnomAD
rs980394511 CA136277521	130	R>L		No	ClinGen Ensembl
rs1042358147 CA135798301	130	R>P		No	ClinGen TOPMed
CA363193742 rs1300180847	131	I>F		No	ClinGen TOPMed gnomAD
CA363210588 rs1254436176	131	I>M		No	ClinGen gnomAD
rs764923225 CA3664674	131	I>N		No	ClinGen ExAC gnomAD
rs1472679242 CA363209359	131	I>T		No	ClinGen gnomAD
rs780767715 CA3665938	131	I>T		No	ClinGen ExAC gnomAD
TCGA novel CA363193723 rs1581448299	132	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Ensembl
CA362893896 rs1199392510	132	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1332600888 CA363185397	132	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA363209364 rs1186783518	132	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA363179658 rs1238556326	132	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA3665939 rs749656611	132	R>C		No	ClinGen ExAC gnomAD
CA135797452 rs1053913919	132	R>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA362893900 rs1199392510	132	R>G		No	ClinGen TOPMed gnomAD
CA136281242 rs760090729 rs866960721 CA363209367 CA135798306 rs1415342243 TCGA novel	132	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen gnomAD TOPMed
rs866960721 CA363193720	132	R>P		No	ClinGen gnomAD
rs1000620583 CA135797451	133	G>A		No	ClinGen TOPMed
rs373054706 CA3671372	133	G>E		No	ClinGen ESP ExAC gnomAD
rs763057182 CA3664677	133	G>E		No	ClinGen ExAC gnomAD
rs370836132 CA3670237	133	G>E		No	ClinGen ESP ExAC gnomAD
CA3668902 rs763703948	133	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA363206709 rs1233953353	133	G>R		No	ClinGen TOPMed
rs373054706 CA3671373	133	G>V		No	ClinGen ESP ExAC gnomAD
rs749470205 CA3680208	133	G>W		No	ClinGen ExAC TOPMed gnomAD
CA3668901 rs373554594	134	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA363210574 CA3680207 rs907913121 rs1342925419 rs780465027 rs369656164 CA3678572 TCGA novel CA363179676	134	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ExAC TOPMed gnomAD ESP
rs761484168 CA3678571	134	E>K		No	ClinGen ExAC TOPMed gnomAD
rs867056701 CA136258163	134	E>K		No	ClinGen Ensembl
CA3664678 rs764264135	134	E>K		No	ClinGen ExAC gnomAD
CA136298728 rs904358755	134	E>K		No	ClinGen Ensembl
rs562490064 CA3671063	134	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs1329064893 CA362887112	134	E>Q		No	ClinGen TOPMed
CA136256750 rs907913121	134	E>V		No	ClinGen TOPMed gnomAD
rs778901635	135	R>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA363179679 rs1489555368	135	R>G		No	ClinGen gnomAD
rs749873344 CA3678574	135	R>K		No	ClinGen ExAC TOPMed gnomAD
CA363185159 rs1296022073	135	R>K		No	ClinGen gnomAD
rs1318299590 CA363210568	135	R>K		No	ClinGen gnomAD
TCGA novel	135	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1436434441 CA362893817	135	R>Q		No	ClinGen TOPMed
rs758780418	135	R>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA3678573 rs749873344	135	R>T		No	ClinGen ExAC TOPMed gnomAD
CA3678575 rs779961504	136	A>D		No	ClinGen ExAC gnomAD
rs943408137 CA136319057	136	A>E		No	ClinGen gnomAD
CA3671060 rs775170143	136	A>G		No	ClinGen ExAC gnomAD
CA363185371 rs1389317949	136	A>P		No	ClinGen gnomAD
CA363179691 rs1379727672	136	A>P		No	ClinGen gnomAD
rs779980319 CA363210563	136	A>P		No	ClinGen ExAC gnomAD
rs1230628886 CA363185177	136	A>P		No	ClinGen gnomAD
rs1162696698 CA363193672	136	A>S		No	ClinGen TOPMed gnomAD
rs1293034525 COSM595471 CA362880057	136	A>S	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
TCGA novel CA3671370 rs779980319	136	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC gnomAD NCI-TCGA
rs911990384 CA136319052	136	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1279958532 CA362893809	136	A>T		No	ClinGen gnomAD
COSM1292264 rs1162696698 CA363193676	136	A>T	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1257347824 CA363185190	136	A>V		No	ClinGen gnomAD
rs756571457 CA3665122	136	A>V		No	ClinGen ExAC
rs957461655	137	A>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs761826916 CA363179706	137	A>C		No	ClinGen ExAC gnomAD
rs1311321510 CA363193654	137	A>L		No	ClinGen TOPMed
CA3665120 rs185627069	137	A>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3671368 rs750189838	137	A>Q		No	ClinGen ExAC TOPMed gnomAD
CA136281225 rs1038639688	137	A>Q		No	ClinGen TOPMed gnomAD
rs200039971 CA3670240	137	A>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA136256758 rs957461655	137	A>S		No	ClinGen gnomAD
rs761826916 CA3664680	137	A>W		No	ClinGen ExAC gnomAD
CA3678577 rs754706023	137	A>W		No	ClinGen ExAC gnomAD
rs773277981 CA3670242	137	A>W		No	ClinGen ExAC TOPMed gnomAD
CA3671367 TCGA novel CA363210553 rs767426202	137	A>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ExAC TOPMed gnomAD
rs1561766801 CA566289058	137	A>del		No	ClinGen Ensembl

2 associated diseases with P68431

[MIM: 137800]: Glioma (GLM)

Gliomas are benign or malignant central nervous system neoplasms derived from glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes, oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes. {ECO:0000269|PubMed:22286216}. Note=The gene represented in this entry is involved in disease pathogenesis. HIST1H3B mutations affecting residue Lys-28 involved in post-translational modifications of histone H3.1 are recurrent in malignant, aggressive gliomas including pediatric non-brain stem glioblastoma and diffuse intrinsic pontine glioma (DIPG) (PubMed:22286216). The mechanism through which mutations lead to tumorigenesis involves altered histone methylation, impaired regulation of Polycomb repressive complex 2 (PRC2) activity, and aberrant epigenetic regulation of gene expression (PubMed:23603901). {ECO:0000269|PubMed:22286216, ECO:0000269|PubMed:23603901}.

Without disease ID

Gliomas are benign or malignant central nervous system neoplasms derived from glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes, oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes. {ECO:0000269|PubMed:22286216}. Note=The gene represented in this entry is involved in disease pathogenesis. HIST1H3B mutations affecting residue Lys-28 involved in post-translational modifications of histone H3.1 are recurrent in malignant, aggressive gliomas including pediatric non-brain stem glioblastoma and diffuse intrinsic pontine glioma (DIPG) (PubMed:22286216). The mechanism through which mutations lead to tumorigenesis involves altered histone methylation, impaired regulation of Polycomb repressive complex 2 (PRC2) activity, and aberrant epigenetic regulation of gene expression (PubMed:23603901). {ECO:0000269|PubMed:22286216, ECO:0000269|PubMed:23603901}.

1 regional properties for P68431

Type	Name	Position	InterPro Accession
domain	Histone H2A/H2B/H3	1 - 132	IPR007125

Functions

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

8 GO annotations of cellular component

Name	Definition
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
extracellular region	The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
nuclear chromosome	A chromosome that encodes the nuclear genome and is found in the nucleus of a eukaryotic cell during the cell cycle phases when the nucleus is intact.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
nucleosome	A complex comprised of DNA wound around a multisubunit core and associated proteins, which forms the primary packing unit of DNA into higher order structures.
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.
protein-containing complex	A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together.

4 GO annotations of molecular function

Name	Definition
cadherin binding	Binding to cadherin, a type I membrane protein involved in cell adhesion.
DNA binding	Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
protein heterodimerization activity	Binding to a nonidentical protein to form a heterodimer.
structural constituent of chromatin	The action of a molecule that contributes to the structural integrity of chromatin.

4 GO annotations of biological process

Name	Definition
DNA replication-dependent chromatin assembly	The formation of nucleosomes on newly synthesized DNA, coupled to strand elongation.
nucleosome assembly	The aggregation, arrangement and bonding together of a nucleosome, the beadlike structural units of eukaryotic chromatin composed of histones and DNA.
regulation of gene expression, epigenetic	A process that modulates the frequency, rate or extent of gene expression through chromatin remodelling either by modifying higher order chromatin fiber structure, nucleosomal histones, or the DNA. Once established, this regulation may be maintained over many cell divisions. It can also be heritable in the absence of the instigating signal.
telomere organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of telomeres, terminal regions of a linear chromosome that include the telomeric DNA repeats and associated proteins.

36 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P68428		Histone H3.2	Triticum aestivum (Wheat)	PR
Q5E9F8	H3-3B	Histone H3.3	Bos taurus (Bovine)	PR
P84227		Histone H3.2	Bos taurus (Bovine)	PR
P68432		Histone H3.1	Bos taurus (Bovine)	PR
P84247	H3-X	Histone H3.3	Gallus gallus (Chicken)	PR
P84229	H3-VIII	Histone H3.2	Gallus gallus (Chicken)	PR
P02299	His3	Histone H3	Drosophila melanogaster (Fruit fly)	PR
Q71H73		Histone H3.3	Vitis vinifera (Grape)	PR
P68431	H3C12	Histone H3.1	Homo sapiens (Human)	PR
P84243	H3-3B	Histone H3.3	Homo sapiens (Human)	PR
Q16695	H3-4	Histone H3.1t	Homo sapiens (Human)	PR
Q71DI3	H3C13	Histone H3.2	Homo sapiens (Human)	PR
P69246	H3C4	Histone H3.2	Zea mays (Maize)	PR
P84228	H3c15	Histone H3.2	Mus musculus (Mouse)	PR
P84244	H3-3b	Histone H3.3	Mus musculus (Mouse)	PR
P68433	H3c11	Histone H3.1	Mus musculus (Mouse)	PR
Q71LE2	H3-3A	Histone H3.3	Sus scrofa (Pig)	PR
P84245	H3-3b	Histone H3.3	Rattus norvegicus (Rat)	PR
O35799	Hfe	Hereditary hemochromatosis protein homolog	Rattus norvegicus (Rat)	PR
Q6LED0		Histone H3.1	Rattus norvegicus (Rat)	PR
Q0JCT1	H3	Histone H3.3	Oryza sativa subsp japonica (Rice)	PR
Q2RAD9	H3R-21	Histone H3.2	Oryza sativa subsp japonica (Rice)	PR
Q27490	his-70	Histone H3.3-like type 1	Caenorhabditis elegans	PR
Q10453	his-71	Histone H3.3 type 1	Caenorhabditis elegans	PR
Q27532	his-74	Histone H3.3-like type 2	Caenorhabditis elegans	PR
P08898	his-2	Histone H3	Caenorhabditis elegans	PR
Q9FX60	At1g13370	Histone H3-like 1	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9FXI7	MGH3	Histone H3-like 2	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9FKQ3	At5g65350	Histone H3-like 5	Arabidopsis thaliana (Mouse-ear cress)	PR
P59226	HTR2	Histone H3.1	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9LR02	At1g75600	Histone H3-like 3	Arabidopsis thaliana (Mouse-ear cress)	PR
P59169	HTR4	Histone H3.3	Arabidopsis thaliana (Mouse-ear cress)	PR
Q6P823	TGas113e22.1	Histone H3.3	Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)	PR
Q28D37	TGas081o10.1	Histone H3.2	Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)	PR
Q6PI20	h3f3a	Histone H3.3	Danio rerio (Zebrafish) (Brachydanio rerio)	PR
Q4QRF4	zgc:113984;	Histone H3.2	Danio rerio (Zebrafish) (Brachydanio rerio)	PR

10	20	30	40	50	60
MARTKQTARK	STGGKAPRKQ	LATKAARKSA	PATGGVKKPH	RYRPGTVALR	EIRRYQKSTE
70	80	90	100	110	120
LLIRKLPFQR	LVREIAQDFK	TDLRFQSSAV	MALQEACEAY	LVGLFEDTNL	CAIHAKRVTI
130
MPKDIQLARR	IRGERA