AiPD: Autoinhibited Protein Database

Q5K651

Gene name	SAMD9 (C7orf5, DRIF1, KIAA2004, OEF1)
Protein name	Sterile alpha motif domain-containing protein 9
Names	SAM domain-containing protein 9
Species	Homo sapiens (Human)
KEGG Pathway	hsa:54809
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

63-137 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

63-137 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

2 structures for Q5K651

Entry ID	Method	Resolution	Chain	Position	Source
7KSP	X-ray	280 A	A/B	156-385	PDB
AF-Q5K651-F1	Predicted				AlphaFoldDB

1245 variants for Q5K651

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs201122403 RCV000669155	1	M>T	Normophosphatemic familial tumoral calcinosis [ClinVar]	Yes	ClinVar dbSNP
rs1482171921 CA368206273 RCV001266766	30	Q>*	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs1085307093 RCV000490527	32	H>missing	Normophosphatemic familial tumoral calcinosis [ClinVar]	Yes	ClinVar dbSNP
rs1554337424 RCV000672720	45	V>missing	Normophosphatemic familial tumoral calcinosis [ClinVar]	Yes	ClinVar dbSNP
RCV001301857 RCV002539487 rs770339001 CA4343169	106	R>C	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000490326 CA4343140 rs767558735 RCV003126606	154	Q>*	Normophosphatemic familial tumoral calcinosis [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs543007243 RCV001863066 RCV001194464 CA4343038	344	R>*	Normophosphatemic familial tumoral calcinosis [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
COSM1452881 RCV001260988 CA4343028 rs138478808 RCV001363225	353	T>M	MIRAGE syndrome large_intestine [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001728083 rs1470207548 CA368201693	391	G>*	Normophosphatemic familial tumoral calcinosis [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs1791602240 RCV001330968	437	F>C	MIRAGE syndrome [ClinVar]	Yes	ClinVar dbSNP
rs1584254152 VAR_077885 RCV000239546 CA368197084 RCV001386011	459	R>Q	MIRAGE syndrome MIRAGE; decreased cell proliferation; changed endosome organization [ClinVar, UniProt]	Yes	ClinGen ClinVar Ensembl dbSNP UniProt
RCV001816674 rs375515095 RCV000902173 RCV000670510	600	E>missing	Normophosphatemic familial tumoral calcinosis [ClinVar]	Yes	ClinVar dbSNP
RCV001818646 RCV000888571 rs767270627 RCV001775153	627	S>missing	MIRAGE syndrome [ClinVar]	Yes	ClinVar dbSNP
rs1791587535 RCV001266437	658	N>D	Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
RCV001270306 VAR_085147 rs1791586314	676	K>E	Monosomy 7 myelodysplasia and leukemia syndrome 2 M7MLS2 [ClinVar, UniProt]	Yes	ClinVar dbSNP UniProt
CA4342898 COSM1093113 RCV001347711 RCV002291750 rs763070754	685	R>*	MIRAGE syndrome Variant assessed as Somatic; 0.0 impact. endometrium [ClinVar, NCI-TCGA, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA16618572 rs1064795431 RCV000479048 RCV002525885	685	R>Q	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs753146043 RCV002532982 RCV000714858	720	N>missing	MIRAGE syndrome [ClinVar]	Yes	ClinVar dbSNP
rs778749748 RCV000784939 CA4342876 RCV000784940	733	I>T	MIRAGE syndrome Normophosphatemic familial tumoral calcinosis [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA368191926 rs1584253388 RCV000984532	749	H>Q	MIRAGE syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1584253343 CA368191536 RCV000239465 VAR_077886	769	D>N	MIRAGE syndrome MIRAGE; decreased cell proliferation; changed endosome organization [ClinVar, UniProt]	Yes	ClinGen ClinVar Ensembl dbSNP UniProt
rs147587391 RCV001820016 RCV001325704 RCV002546138 CA4342846	792	V>I	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_077887	834	N>Y	MIRAGE; decreased cell proliferation; changed endosome organization [UniProt]	Yes	UniProt
rs1554337029 RCV000674376	837	R>missing	Normophosphatemic familial tumoral calcinosis [ClinVar]	Yes	ClinVar dbSNP
RCV001330969 rs1791570014	932	T>I	MIRAGE syndrome [ClinVar]	Yes	ClinVar dbSNP
VAR_077888 CA368189249 rs1554336981 RCV001281104 RCV000624410	974	E>K	MIRAGE syndrome Variant assessed as Somatic; impact. Inborn genetic diseases MIRAGE; decreased cell proliferation; changed endosome organization [ClinVar, NCI-TCGA, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP
rs1247438528 RCV001281105 RCV002537685 CA368189193 RCV001266142	982	R>C	MIRAGE syndrome Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD
RCV000677708 rs1554336974 CA368189192 RCV001662742	982	R>H	MIRAGE syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV002489336 RCV001819013 rs146087534 RCV000958358 CA4342763	1003	N>S	Normophosphatemic familial tumoral calcinosis [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA4342708 RCV000668331 RCV001816671 RCV000784942 rs572380130	1127	Y>*	Normophosphatemic familial tumoral calcinosis [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
RCV001270305 rs759775100 TCGA novel	1136	E>Q	Monosomy 7 myelodysplasia and leukemia syndrome 2 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA]	Yes	ClinVar NCI-TCGA dbSNP
rs1554336918 CA368184636 RCV000673236	1169	Q>*	Normophosphatemic familial tumoral calcinosis [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_077889	1195	A>V	MIRAGE; decreased cell proliferation; changed endosome organization [UniProt]	Yes	UniProt
RCV000962215 RCV002499172 rs199887936 RCV000670395 RCV001816673	1218	D>*	Normophosphatemic familial tumoral calcinosis [ClinVar]	Yes	ClinVar dbSNP
RCV001330970 RCV002546430 rs778111446	1243	N>missing	MIRAGE syndrome [ClinVar]	Yes	ClinVar dbSNP
VAR_077890	1280	P>L	MIRAGE; decreased cell proliferation; changed endosome organization [UniProt]	Yes	UniProt
VAR_077891	1286	Q>K	MIRAGE; decreased cell proliferation; changed endosome organization [UniProt]	Yes	UniProt
rs1791543423 RCV001281106	1293	R>Q	MIRAGE syndrome [ClinVar]	Yes	ClinVar dbSNP
rs1584251938 CA368182017 RCV000239516 VAR_077813 RCV002508782	1293	R>W	MIRAGE syndrome MIRAGE; decreased cell proliferation; changed endosome organization [ClinVar, UniProt]	Yes	ClinGen ClinVar Ensembl dbSNP UniProt
RCV000670841 RCV002531265 rs755666547	1445	Q>missing	Normophosphatemic familial tumoral calcinosis [ClinVar]	Yes	ClinVar dbSNP
CA4342557 RCV000909633 rs755857667 RCV002540795 RCV001818820	1466	G>R	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs121918554 VAR_031529 RCV000001288 CA114859	1495	K>E	Normophosphatemic familial tumoral calcinosis NFTC; loss of cytoplasmic expression [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV001861784 RCV001816672 RCV000669924 CA4342536 rs200178876	1520	E>*	Normophosphatemic familial tumoral calcinosis [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000841380 rs149966534 RCV000623988 RCV001821756 CA4342530	1529	R>H	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA368176636 RCV000623183 rs1554336742	1555	P>S	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
TCGA novel	1	M>?	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368206660 rs1562776669	2	A>S		No	ClinGen Ensembl
CA4343237 rs781032261	5	L>I		No	ClinGen ExAC TOPMed gnomAD
rs754638665 CA4343236	6	N>Y		No	ClinGen ExAC TOPMed gnomAD
CA368206594 rs1188228102	7	L>F		No	ClinGen Ensembl
CA368206568 rs1410126828	9	E>A		No	ClinGen TOPMed
TCGA novel	9	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779810375 CA368206543	11	T>I		No	ClinGen ExAC gnomAD
rs779810375 CA4343234	11	T>K		No	ClinGen ExAC gnomAD
rs1334987881 CA368206537	12	D>H		No	ClinGen gnomAD
CA368206501 rs1397658256	14	W>L		No	ClinGen gnomAD
rs757777689 CA4343230	15	T>I		No	ClinGen ExAC TOPMed gnomAD
CA368206490 rs757777689	15	T>K		No	ClinGen ExAC TOPMed gnomAD
CA161995512 rs757777689	15	T>R		No	ClinGen ExAC TOPMed gnomAD
rs765663084 CA4343231	15	T>S		No	ClinGen ExAC gnomAD
rs1432345908 CA368206464	17	E>G		No	ClinGen gnomAD
CA161995472 rs775165048	19	V>E		No	ClinGen Ensembl
CA368206441 rs1158948048	19	V>I		No	ClinGen gnomAD
CA4343229 rs754213471	22	W>*		No	ClinGen ExAC gnomAD
CA4343227 rs760925659	24	E>K		No	ClinGen ExAC gnomAD
CA4343226 rs775712957	25	S>I		No	ClinGen ExAC gnomAD
CA368206355 rs775712957	25	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA4343225 rs148110610	26	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs759617299 CA368206316	27	K>N		No	ClinGen ExAC TOPMed gnomAD
CA368206310 rs143734187	28	I>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed
CA4343221 rs748098989	28	I>M		No	ClinGen ExAC gnomAD
CA4343222 rs776674692	28	I>T		No	ClinGen ExAC TOPMed gnomAD
rs143734187 CA4343223	28	I>V		No	ClinGen ESP ExAC TOPMed
rs758063917 CA161995415	29	D>E		No	ClinGen TOPMed gnomAD
rs1216221231 CA368206289	29	D>V		No	ClinGen gnomAD
rs534555102 CA4343220	30	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
RCV000964290 rs746748986 CA4343217	32	H>L		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA4343216 rs148617088	33	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4343215 rs758054589	36	L>F		No	ClinGen ExAC TOPMed gnomAD
CA161995369 rs921706319	37	T>I		No	ClinGen TOPMed gnomAD
RCV001312467 rs921706319 CA368206093	37	T>S		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs745435231 CA368206065	39	Q>L		No	ClinGen ExAC TOPMed gnomAD
rs745435231 CA4343214	39	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs771019191 CA368206046	40	D>E		No	ClinGen gnomAD
CA161995351 rs375408867	41	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA4343213 rs375408867	41	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1478829221 CA368206009	43	G>E		No	ClinGen gnomAD
rs1192596060 CA368205995	45	V>I		No	ClinGen gnomAD
CA4343211 rs754337797	46	L>S		No	ClinGen ExAC gnomAD
TCGA novel	47	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368205935 rs1292313496	48	W>C		No	ClinGen gnomAD
rs764461512 CA4343210	50	K>R		No	ClinGen ExAC gnomAD
CA4343209 rs756486898	51	K>E		No	ClinGen ExAC gnomAD
CA4343207 rs752993312	52	E>*		No	ClinGen ExAC
TCGA novel	52	E>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768867610	52	E>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1212423698 CA368205864	53	H>L		No	ClinGen TOPMed
CA368205869 rs1231432215	53	H>Y		No	ClinGen TOPMed gnomAD
CA161995287 rs1006785467	55	V>I		No	ClinGen Ensembl
CA161995274 rs778463566	56	D>G		No	ClinGen TOPMed
rs1198713880 CA368205834	56	D>Y		No	ClinGen TOPMed
rs372097723 CA4343202 COSM4149412	57	M>T	ovary [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA4343203 rs201880188	57	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4343199 rs776649684	60	T>K		No	ClinGen ExAC
rs1033469000 CA161995251	60	T>S		No	ClinGen Ensembl
rs375212899 CA4343197	62	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA4343196 rs775417911	64	A>T		No	ClinGen ExAC gnomAD
rs530019742 CA4343195	65	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA368205763 rs1464078029	66	Q>H		No	ClinGen TOPMed
CA368205756 rs1391494456	67	I>M		No	ClinGen TOPMed
rs745512561 CA4343194	67	I>R		No	ClinGen ExAC TOPMed gnomAD
rs745512561 CA368205758	67	I>T		No	ClinGen ExAC TOPMed gnomAD
CA368205755 rs1248670605	68	E>K		No	ClinGen TOPMed gnomAD
CA4343192 rs550190460	70	L>Q		No	ClinGen ExAC TOPMed gnomAD
CA4343187 rs200748623	75	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4343188 rs111780648	75	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA161995140 rs74650267	77	T>A		No	ClinGen TOPMed gnomAD
CA4343185 rs753119804	77	T>I		No	ClinGen ExAC
rs753119804 CA368205692	77	T>K		No	ClinGen ExAC
CA161995139 rs74650267	77	T>P		No	ClinGen TOPMed gnomAD
TCGA novel	78	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1336926502 CA368205684	79	I>L		No	ClinGen gnomAD
CA368205680 rs1276227207	79	I>T		No	ClinGen gnomAD
CA368205673 rs1233454034	80	E>G		No	ClinGen gnomAD
CA4343184 rs781518706	81	D>V		No	ClinGen ExAC gnomAD
COSM1452887 rs755238026 CA4343183	82	S>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs772605331 CA161995107	83	I>T		No	ClinGen Ensembl
rs1562776424 CA368205643	85	T>A		No	ClinGen Ensembl
CA4343180 rs183163060	85	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA161995106 rs183163060	85	T>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs147157740 RCV001819052 CA4343179 RCV000963453	86	S>F		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs573516601 CA368205622	88	M>R		No	ClinGen 1000Genomes ExAC gnomAD
CA4343178 rs573516601	88	M>T		No	ClinGen 1000Genomes ExAC gnomAD
CA161995100 rs1043918112	89	G>E		No	ClinGen TOPMed gnomAD
rs1453963233 CA368205609	90	K>R		No	ClinGen gnomAD
rs1342149733 CA368205596	92	S>I		No	ClinGen TOPMed gnomAD
CA4343177 rs760675282	95	A>P		No	ClinGen ExAC TOPMed gnomAD
CA4343176 rs775475003	97	K>E		No	ClinGen ExAC gnomAD
rs771959603 CA4343175	99	Q>L		No	ClinGen ExAC gnomAD
rs559163594 CA4343174	101	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs559163594 CA368205533	101	V>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA368205535 CA368205534 rs1203790711	101	V>L		No	ClinGen gnomAD
CA161995036 rs201390140	102	S>T		No	ClinGen TOPMed gnomAD
rs770425514 CA4343172	103	Q>R		No	ClinGen ExAC gnomAD
CA4343171 rs748895679	104	K>*		No	ClinGen ExAC gnomAD
CA4343168 rs201453488	106	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs770339001 CA4343170	106	R>S		No	ClinGen ExAC TOPMed gnomAD
CA4343166 rs755395110	108	E>D		No	ClinGen ExAC gnomAD
rs751810299 CA4343165	109	T>I		No	ClinGen ExAC TOPMed gnomAD
CA4343163 rs758540335	110	S>*		No	ClinGen ExAC gnomAD
RCV001302295 CA368205468 rs1373862862	112	Q>E		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA368205466 rs750585395	112	Q>P		No	ClinGen ExAC TOPMed gnomAD
rs750585395 CA4343162	112	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1266128638 CA368205457	113	K>N		No	ClinGen TOPMed
rs199704187 CA161994961	113	K>R		No	ClinGen 1000Genomes
TCGA novel	115	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4343161 rs765384658	115	K>T		No	ClinGen ExAC gnomAD
rs763877299 CA161994947	116	G>C		No	ClinGen ExAC TOPMed gnomAD
CA4343159 rs370262863	116	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs763877299 CA4343160	116	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1468474186 CA368205418	119	N>S		No	ClinGen gnomAD
rs146592813 CA4343158	120	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	121	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774013999 CA4343156	122	M>T		No	ClinGen ExAC TOPMed gnomAD
CA161994910 rs1051007612	123	A>S		No	ClinGen TOPMed
CA161994914 rs1051007612	123	A>T		No	ClinGen TOPMed
CA161994909 rs189893807	124	N>K		No	ClinGen 1000Genomes gnomAD
CA4343154 rs144391563 COSM247172	125	P>L	skin prostate [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA4343155 rs770675430	125	P>S		No	ClinGen ExAC TOPMed gnomAD
CA368205370 rs1222431206	127	A>P		No	ClinGen gnomAD
CA368205359 rs143535915 CA4343152	128	M>I		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	130	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757780367 CA4343149	135	S>*		No	ClinGen ExAC gnomAD
TCGA novel	140	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4343148 rs6969691 VAR_031526	143	I>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1454462576 CA368205224	143	I>V		No	ClinGen gnomAD
CA4343147 rs747471054	147	I>T		No	ClinGen ExAC gnomAD
CA4343144 rs746054958	148	D>E		No	ClinGen ExAC TOPMed gnomAD
rs780265493 CA4343146	148	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1262050840 CA368205134	149	Y>D		No	ClinGen gnomAD
TCGA novel	151	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368205086 rs1221319744	152	E>G		No	ClinGen gnomAD
rs368510205 CA4343142	153	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA4343141 rs753904283	153	R>S		No	ClinGen ExAC TOPMed gnomAD
CA368205041 rs1485952790	155	P>L		No	ClinGen gnomAD
rs751420980 CA4343138	157	I>T		No	ClinGen ExAC TOPMed gnomAD
rs754859629 CA4343139	157	I>V		No	ClinGen ExAC gnomAD
CA4343137 rs766059671	160	T>I		No	ClinGen ExAC gnomAD
rs762771385 CA4343136	163	S>*		No	ClinGen ExAC TOPMed gnomAD
rs1482501377 CA368204939	164	Y>H		No	ClinGen TOPMed
rs764815844 CA4343134	165	P>L		No	ClinGen ExAC gnomAD
rs772878640 CA4343135	165	P>T		No	ClinGen ExAC gnomAD
CA4343133 rs761313894	166	F>S		No	ClinGen ExAC gnomAD
CA4343132 rs776111249	169	F>I		No	ClinGen ExAC gnomAD
CA368204863 rs1396477629	169	F>Y		No	ClinGen TOPMed gnomAD
TCGA novel	170	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747447641 CA4343130	170	S>N		No	ClinGen ExAC gnomAD
CA368204839 rs1415588352	170	S>R		No	ClinGen gnomAD
COSM1452885 CA4343127 rs373775990	174	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA4343128 rs373775990	174	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4343126 COSM453576 rs779289964	174	R>H	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA4343129 rs373775990	174	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1184456364 CA368204782	175	Y>H		No	ClinGen gnomAD
rs749437618 CA4343124	176	K>E		No	ClinGen ExAC gnomAD
rs1296067892 CA368204763	176	K>M		No	ClinGen gnomAD
CA368204742 rs1213460857	177	L>F		No	ClinGen gnomAD
rs370116435 CA161994700	177	L>S		No	ClinGen ESP
rs534496289 CA4343122	180	S>G		No	ClinGen 1000Genomes ExAC gnomAD
CA368204702 rs1584255048	180	S>I		No	ClinGen Ensembl
CA368204701 rs1562776229	180	S>R		No	ClinGen Ensembl
CA161994682 rs919537887	182	Q>*		No	ClinGen TOPMed gnomAD
rs767702290 CA161994672	183	P>A		No	ClinGen TOPMed gnomAD
CA4343121 rs751486645	183	P>L		No	ClinGen ExAC gnomAD
TCGA novel	183	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767702290 CA368204672	183	P>T		No	ClinGen TOPMed gnomAD
rs1293677260 CA368204661	184	E>*		No	ClinGen gnomAD
CA368204643 rs1371421226	185	T>R		No	ClinGen TOPMed
rs758207444 CA4343119	186	G>E		No	ClinGen ExAC gnomAD
CA4343120 rs377222750	186	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs750155626 CA4343118	188	G>D		No	ClinGen ExAC gnomAD
CA161994648 rs1014088211	189	N>D		No	ClinGen TOPMed
CA368204619 rs1439913327	189	N>S		No	ClinGen gnomAD
rs372825129 CA4343117	190	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA368204602 rs1462029800 COSM1550878	192	D>H	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA368204603 rs1462029800	192	D>N		No	ClinGen gnomAD
rs151163886 CA4343116	193	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA161994627 rs548924777	194	I>L		No	ClinGen 1000Genomes ExAC gnomAD
CA4343112 rs371337736	194	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA4343113 rs548924777	194	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs967807530 CA161994615	200	F>L		No	ClinGen gnomAD
rs760045627 CA4343110	201	T>I		No	ClinGen ExAC gnomAD
CA161994594 rs760045627	201	T>K		No	ClinGen ExAC gnomAD
CA4343108 rs774843282	202	N>T		No	ClinGen ExAC gnomAD
TCGA novel	203	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1584254960 CA368204490	204	A>P		No	ClinGen Ensembl
rs74386776 CA4343105	205	T>P		No	ClinGen ExAC gnomAD
CA368204472 rs1442486386	205	T>R		No	ClinGen TOPMed
rs1211484084 CA368204458 COSM1093123	206	A>V	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1303027285 CA368204447	207	T>K		No	ClinGen gnomAD
rs748204858 CA4343103	208	E>D		No	ClinGen ExAC gnomAD
rs1030030514 CA161994559	210	D>A		No	ClinGen Ensembl
CA368204399 rs1334907715	211	V>L		No	ClinGen gnomAD
CA4343101 rs758323957	213	M>V		No	ClinGen ExAC gnomAD
rs1395688683 CA368204345	215	F>L		No	ClinGen gnomAD
CA368204299 rs1295884419	218	E>*		No	ClinGen gnomAD
CA4343100 rs750272212	218	E>G		No	ClinGen ExAC gnomAD
rs778654614 CA4343099 COSM602754	221	R>*	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs148603551 COSM602756 CA4343098	221	R>L	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs148603551 CA4343097	221	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs201875833 CA4343096	222	F>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201875833 CA4343095	222	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1373963945 CA368204245	223	A>S		No	ClinGen gnomAD
rs752183582 CA4343094	225	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA368204216 rs1418941852	226	C>R		No	ClinGen gnomAD
CA4343093 rs768198430	227	M>I		No	ClinGen ExAC gnomAD
rs943356283 CA368204201	227	M>L		No	ClinGen TOPMed gnomAD
CA161994483 rs943356283	227	M>V		No	ClinGen TOPMed gnomAD
rs147146654 CA4343092	229	S>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs1562776108 CA368204176	229	S>P		No	ClinGen Ensembl
CA4343091 rs530971102	230	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4343090 RCV001350009 rs201086023	230	R>H		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1333545351 CA368204167	231	T>A		No	ClinGen TOPMed
TCGA novel	232	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4343089 rs763330940	233	G>D		No	ClinGen ExAC gnomAD
rs1427245202 CA368204147	234	T>A		No	ClinGen gnomAD
rs769996643 CA4343087	234	T>I		No	ClinGen ExAC TOPMed gnomAD
rs769996643 CA368204143	234	T>S		No	ClinGen ExAC TOPMed gnomAD
rs781315839 CA4343086	235	I>M		No	ClinGen ExAC gnomAD
rs1416053668 CA368204124	236	H>D		No	ClinGen TOPMed gnomAD
CA368204118 rs772042070	236	H>L		No	ClinGen ExAC TOPMed gnomAD
CA368204126 rs1416053668	236	H>N		No	ClinGen TOPMed gnomAD
CA4343084 rs772042070	236	H>R		No	ClinGen ExAC TOPMed gnomAD
CA368204099 rs1311772611	238	G>R		No	ClinGen gnomAD
CA368204090 rs1416675927	238	G>V		No	ClinGen gnomAD
CA368204080 rs1276231898	240	K>Q		No	ClinGen TOPMed
CA368204028 rs1159455564	243	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs377645651 CA4343083	244	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA368204022 rs1453571482	244	H>Y		No	ClinGen gnomAD
CA4343082 rs200540593	247	I>T		No	ClinGen ExAC TOPMed gnomAD
CA368203984 rs1167789173	247	I>V		No	ClinGen TOPMed gnomAD
rs1256846188 CA368203966	248	V>A		No	ClinGen gnomAD
rs919437168 CA161994424	248	V>F		No	ClinGen TOPMed
rs1185902898 CA368203955	249	G>D		No	ClinGen gnomAD
rs757064826 CA4343081	250	I>N		No	ClinGen ExAC gnomAD
CA368203907 rs1262759855	253	T>N		No	ClinGen gnomAD
CA368203905 rs1262759855	253	T>S		No	ClinGen gnomAD
CA4343080 rs536634385	254	N>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	255	D>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368203870 rs1191357403	256	T>A		No	ClinGen TOPMed
rs767106665 CA368203809	260	L>H		No	ClinGen ExAC TOPMed gnomAD
CA4343076 rs767106665	260	L>P		No	ClinGen ExAC TOPMed gnomAD
rs1172081311 CA368203806	261	I>F		No	ClinGen TOPMed
rs1292065383 CA368203794	262	N>H		No	ClinGen gnomAD
CA4343075 rs759077484	263	H>R		No	ClinGen ExAC TOPMed gnomAD
CA368203764 rs1327817572	265	N>K		No	ClinGen gnomAD
CA368203767 rs1458822267	265	N>S		No	ClinGen TOPMed
rs1318639709 CA368203754	267	M>T		No	ClinGen gnomAD
CA368203744 rs1381981662	268	I>T		No	ClinGen gnomAD
rs1584254756 CA368203742	269	N>D		No	ClinGen Ensembl
COSM1137772 CA368203739 rs1383324395	269	N>S	kidney [Cosmic]	No	ClinGen cosmic curated gnomAD
TCGA novel	271	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368203725 rs1167588162	271	Y>H		No	ClinGen gnomAD
TCGA novel	272	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA161994357 rs774344690	275	H>R		No	ClinGen gnomAD
CA4343074 rs373997294	275	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA368203685 rs1373825838	276	Q>P		No	ClinGen gnomAD
rs1445516752 CA368203680	277	V>I		No	ClinGen gnomAD
TCGA novel	281	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4343073 rs147441374	283	C>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs142802656 CA4343072	283	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA161994351 rs553862328 COSM1224631	285	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA4343071 rs749702071 COSM1093122	285	R>Q	ovary Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs765431657 CA161994319	286	E>D		No	ClinGen ExAC gnomAD
rs762068763 CA4343069	287	P>S		No	ClinGen ExAC gnomAD
rs1270391389 CA368203585	288	R>T		No	ClinGen gnomAD
rs1226186158 CA368203575	289	F>L		No	ClinGen gnomAD
CA4343068 rs776730076 RCV001314059	289	F>S		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs139583166 CA4343067	290	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1269283852 CA368203554	291	E>Q		No	ClinGen TOPMed
TCGA novel	292	V>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368203540 rs747041511	292	V>I		No	ClinGen ExAC gnomAD
CA4343066 rs747041511	292	V>L		No	ClinGen ExAC gnomAD
rs1394382631 CA368203525	293	L>S		No	ClinGen gnomAD
rs150846245 CA4343064	295	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA368203503 rs1397239193	295	P>L		No	ClinGen gnomAD
CA368203510 rs150846245 COSM1093121	295	P>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA161994302 rs983174904	296	N>Y		No	ClinGen TOPMed
rs1474513247 CA368203483	297	S>N		No	ClinGen gnomAD
CA4343063 rs200135790	298	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs141476915 CA4343061	299	L>I		No	ClinGen ESP ExAC
CA161994273 rs928967178	301	D>H		No	ClinGen TOPMed
CA368203401 rs1314705285	304	V>L		No	ClinGen gnomAD
rs920285271 CA161994271	305	I>T		No	ClinGen TOPMed
CA368203339 rs1219345775	307	V>A		No	ClinGen gnomAD
CA368203344 rs1252263478	307	V>M		No	ClinGen gnomAD
CA368203308 rs1584254614	309	I>V		No	ClinGen Ensembl
CA161994263 rs201532367	313	F>L		No	ClinGen TOPMed gnomAD
TCGA novel	314	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA161994262 rs200226729	314	S>P		No	ClinGen gnomAD
rs780945410 CA4343058	315	E>D		No	ClinGen ExAC gnomAD
rs1022496390 CA161994256	316	C>Y		No	ClinGen Ensembl
rs1336650603 CA368203086	319	D>E		No	ClinGen Ensembl
CA368203104 rs1404457838	319	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA4343056 rs751049946	320	Y>D		No	ClinGen ExAC gnomAD
rs528938533 CA4343054	321	F>L		No	ClinGen 1000Genomes ExAC gnomAD
rs865871534 CA161994249	322	Q>*		No	ClinGen Ensembl
CA161994242 rs915824696	323	I>T		No	ClinGen TOPMed
rs1355632227 CA368202955	325	M>R		No	ClinGen gnomAD
rs1444939762 CA368202962	325	M>V		No	ClinGen gnomAD
CA368202942 RCV000498411 COSM39394 rs1554337294	326	Q>*	large_intestine central_nervous_system [Cosmic]	No	ClinGen cosmic curated ClinVar Ensembl dbSNP
CA368202907 rs1409939113	327	N>S		No	ClinGen TOPMed
CA4343053 rs750797668	328	Y>H		No	ClinGen ExAC gnomAD
rs762040521 CA4343051	331	K>Q		No	ClinGen ExAC gnomAD
RCV000514266 CA4343050 rs76377166	332	I>T		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs760747768 CA4343048	334	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA368202738 rs1189250576	336	S>I		No	ClinGen gnomAD
CA368202706 rs1180456100	338	K>N		No	ClinGen gnomAD
CA4343045 rs770823880	338	K>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs749219187 CA4343044	339	F>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4343042 rs772985071	342	F>I		No	ClinGen ExAC gnomAD
rs747896981 RCV001346184 CA4343040	342	F>L		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA4343041 rs769654702 COSM1177117	342	F>S	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1225847816 CA368202626	343	V>G		No	ClinGen gnomAD
CA4343037 rs180705437	344	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1351999472 CA368202614	345	D>N		No	ClinGen TOPMed gnomAD
CA368202592 rs1444597997	346	G>A		No	ClinGen TOPMed gnomAD
CA368202594 rs1444597997	346	G>E		No	ClinGen TOPMed gnomAD
rs998406313 CA161994094	346	G>R		No	ClinGen gnomAD
rs899786219 CA161994092	347	T>A		No	ClinGen Ensembl
rs1018136386 CA161994086	347	T>I		No	ClinGen Ensembl
RCV001009116 rs1584254471	348	S>missing		No	ClinVar dbSNP
rs750968624 CA4343034	348	S>G		No	ClinGen ExAC TOPMed gnomAD
CA368202486 rs200454238 CA4343031	351	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1007550761 CA161994071	351	D>N		No	ClinGen gnomAD
CA4343032 rs757652918 RCV001298419	351	D>V		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000788816 rs1584254441 CA368202468	352	I>T		No	ClinGen ClinVar Ensembl dbSNP
rs760872638 CA4343029	352	I>V		No	ClinGen ExAC TOPMed
CA368202442 rs1188050221	354	K>E		No	ClinGen gnomAD
rs759486201 CA4343026	355	N>S		No	ClinGen ExAC TOPMed gnomAD
CA4343023 rs761769404	357	V>A		No	ClinGen ExAC gnomAD
TCGA novel	360	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368202266 rs1284159862	361	A>E		No	ClinGen TOPMed gnomAD
rs1284159862 CA368202269	361	A>V		No	ClinGen TOPMed gnomAD
CA368202181 rs1337628777	365	D>V		No	ClinGen TOPMed gnomAD
CA368202189 rs1227048825	365	D>Y		No	ClinGen TOPMed gnomAD
CA4343022 rs776558044	366	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1414305058 CA368202146	367	K>*		No	ClinGen gnomAD
rs1414305058 CA368202148	367	K>E		No	ClinGen gnomAD
TCGA novel	368	T>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368202095 rs1290890913	369	L>P		No	ClinGen gnomAD
CA368202097 rs1290890913	369	L>Q		No	ClinGen gnomAD
CA4343020 rs768476519	370	A>T		No	ClinGen ExAC gnomAD
CA4343019 rs746624344	371	E>G		No	ClinGen ExAC gnomAD
rs771670580 CA161993962	372	S>Y		No	ClinGen Ensembl
rs779529107 CA4343018	373	R>K		No	ClinGen ExAC gnomAD
TCGA novel	375	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1206127399 CA368201985	376	A>E		No	ClinGen TOPMed
rs191186450 CA4343017	376	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA368201954 rs1419958645	378	E>*		No	ClinGen gnomAD
CA4343016 rs572262935	379	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA4343015 rs779477356	379	K>N		No	ClinGen ExAC gnomAD
rs757755959 CA4343014	382	A>T		No	ClinGen ExAC gnomAD
rs756644467 CA161993893	382	A>V		No	ClinGen Ensembl
rs754259416 CA4343013	383	K>I		No	ClinGen ExAC gnomAD
CA4343012 rs145917598	385	N>K		No	ClinGen ExAC TOPMed
CA161993858 rs377598068	386	K>Q		No	ClinGen ESP TOPMed
CA4343010 rs756431711	388	E>K		No	ClinGen ExAC TOPMed
CA368201776 rs756431711	388	E>Q		No	ClinGen ExAC TOPMed
TCGA novel	389	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1056651627 CA161993786	391	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs752940223 CA4343007	392	P>Q		No	ClinGen ExAC gnomAD
CA368201666 rs1391714765	392	P>S		No	ClinGen TOPMed
CA4343004 rs759667713	399	T>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	402	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4343002 rs765279964	404	L>F		No	ClinGen ExAC gnomAD
rs1432708965 CA368198333	407	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1326544034 CA368198241	412	Q>*		No	ClinGen gnomAD
CA368198236 rs1467105622	412	Q>R		No	ClinGen TOPMed
rs1347566996 CA368198205	414	I>L		No	ClinGen gnomAD
rs1347566996 CA368198202	414	I>V		No	ClinGen gnomAD
CA4342998 rs760493464	416	V>L		No	ClinGen ExAC gnomAD
CA368198108 rs1455883160	418	N>D		No	ClinGen gnomAD
CA368198007 rs1213562023	422	P>T		No	ClinGen gnomAD
rs775218383 CA4342997	423	D>Y		No	ClinGen ExAC gnomAD
TCGA novel	426	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368197893 rs1403551402	427	H>Y		No	ClinGen TOPMed
rs1009496984 CA161992845	428	L>S		No	ClinGen TOPMed
CA368197785 rs1272839868	432	K>R		No	ClinGen gnomAD
TCGA novel	433	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1225862903 CA368197781	433	E>Q		No	ClinGen gnomAD
CA368197677 rs1386109293	436	W>*		No	ClinGen gnomAD
rs745449703 CA4342993	436	W>R		No	ClinGen ExAC TOPMed gnomAD
rs778272982 CA4342992	438	A>P		No	ClinGen ExAC gnomAD
CA4342991 rs771477477	439	V>E		No	ClinGen ExAC gnomAD
CA368197621 rs1462106983	440	L>S		No	ClinGen gnomAD
rs749825806 CA4342990	443	D>V		No	ClinGen ExAC TOPMed gnomAD
rs778205005 CA161992797	446	S>C		No	ClinGen ExAC TOPMed gnomAD
rs778205005 CA4342989	446	S>F		No	ClinGen ExAC TOPMed gnomAD
rs946402503 CA368197449	448	I>F		No	ClinGen TOPMed
CA161992790 rs946402503	448	I>V		No	ClinGen TOPMed
VAR_031527 CA4342987 rs10239435	449	N>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1480373066 CA368197309	451	V>A		No	ClinGen gnomAD
rs1272726890 CA368197306	452	V>I		No	ClinGen gnomAD
rs117649834 CA368197254	454	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs117649834 CA4342985	454	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs147552284 CA4342983	457	E>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs766341846 CA4342982	457	E>D		No	ClinGen ExAC TOPMed
rs145018604 CA4342981	459	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA368196950 rs1584254137	463	L>F		No	ClinGen Ensembl
CA4342978 rs760548498	468	V>I		No	ClinGen ExAC gnomAD
rs1018187277 CA161992681	470	V>I		No	ClinGen TOPMed gnomAD
rs1005428790 CA161992664	472	Q>*		No	ClinGen Ensembl
rs759088852 CA4342975	475	T>A		No	ClinGen ExAC gnomAD
CA4342974 rs774015303	477	N>D		No	ClinGen ExAC gnomAD
CA368196640 rs1160532975	478	E>G		No	ClinGen gnomAD
CA4342973 rs78564070	479	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	481	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1436319354 CA368196571	482	T>I		No	ClinGen TOPMed
TCGA novel	487	H>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4342971 rs376258200	487	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1360150471 CA368196435	489	P>T		No	ClinGen TOPMed
TCGA novel	490	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	491	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	492	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770283908 CA4342970	494	C>*		No	ClinGen ExAC gnomAD
rs1388675745 CA368196293	495	N>K		No	ClinGen TOPMed
rs1199630602 CA368196268	497	R>K		No	ClinGen gnomAD
rs748607268 CA4342969	498	L>V		No	ClinGen ExAC gnomAD
CA4342968 rs781392503	499	D>G		No	ClinGen ExAC gnomAD
rs1239625577 CA368196218	500	L>F		No	ClinGen gnomAD
rs1328395107 CA368196178	502	S>C		No	ClinGen gnomAD
CA368196097 rs1234654650	506	K>*		No	ClinGen gnomAD
rs1355690640 CA368196073	507	P>H		No	ClinGen TOPMed gnomAD
rs1355690640 CA368196072	507	P>R		No	ClinGen TOPMed gnomAD
TCGA novel	507	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	509	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368196036 rs1333144904	509	D>Y	Variant assessed as Somatic; 4.625e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA4342966 rs200929214	510	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1270749216 CA368195961	513	W>R		No	ClinGen gnomAD
TCGA novel	514	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368195944 rs1214838421	514	Q>K		No	ClinGen TOPMed
rs1258665155 CA368195928	515	R>K		No	ClinGen TOPMed
CA368195908 rs1410424628	516	E>D		No	ClinGen gnomAD
rs780371064 CA4342964	516	E>G		No	ClinGen ExAC gnomAD
rs1489295108 CA368195904	517	R>G		No	ClinGen TOPMed
rs758562254 COSM1093117 CA4342963	519	S>P	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA
rs750458859 CA4342961	524	L>R		No	ClinGen ExAC
rs1448984067 CA368195787	526	S>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA368195784 COSM453575 rs1448984067	526	S>L	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA4342959 rs755991147	528	L>P		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	529	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200619557 CA4342958	530	H>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200619557 CA368195740	530	H>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA368195693 rs1464375337	533	I>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA4342957 rs767185347	534	M>T		No	ClinGen ExAC gnomAD
CA4342956 rs759326331	536	R>K		No	ClinGen ExAC TOPMed gnomAD
rs759326331 CA368195660	536	R>T		No	ClinGen ExAC TOPMed gnomAD
rs142237040 CA4342955	540	L>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA368195590 rs1294319202	542	V>I		No	ClinGen TOPMed
CA4342953 rs762514368	543	F>C		No	ClinGen ExAC gnomAD
CA4342954 rs765948101	543	F>I		No	ClinGen ExAC TOPMed gnomAD
rs148654574 CA4342952	543	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA368195542 rs1434907175	546	L>P		No	ClinGen gnomAD
rs1328573156 CA368195528	547	S>C		No	ClinGen gnomAD
CA368195536 rs1387089801	547	S>P		No	ClinGen gnomAD
CA4342950 rs748567776	548	S>F		No	ClinGen ExAC gnomAD
CA4342951 rs770331176	548	S>P		No	ClinGen ExAC TOPMed gnomAD
rs1584253938 TCGA novel CA368195512	549	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Ensembl
CA161992513 CA4342948 rs10279499 VAR_031528	549	V>L		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA4342949 rs10279499	549	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1323260181 CA368195498	550	D>V		No	ClinGen TOPMed
CA368195467 rs1373912469	552	P>L		No	ClinGen TOPMed gnomAD
CA368195471 rs1373912469	552	P>Q		No	ClinGen TOPMed gnomAD
rs1373912469 CA368195469	552	P>R		No	ClinGen TOPMed gnomAD
rs1188960627 CA368195443	554	D>E		No	ClinGen gnomAD
rs1584253924 CA368195453	554	D>N		No	ClinGen Ensembl
COSM1452879 rs780430573 CA4342946	555	P>S	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs772420717 CA4342945	556	L>V		No	ClinGen ExAC TOPMed gnomAD
rs6960328 CA161992498	557	I>S		No	ClinGen TOPMed gnomAD
rs6960328 CA368195410	557	I>T		No	ClinGen TOPMed gnomAD
COSM1452878 CA368195384 rs1452141347	559	T>S	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
TCGA novel	560	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs139784645 CA4342944	562	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs779115874 CA4342943	565	Q>*		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	567	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	567	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4342942 rs756118015	570	M>R		No	ClinGen ExAC gnomAD
rs781126245 CA4342940	574	L>M		No	ClinGen ExAC gnomAD
CA368195133 rs1363405437	574	L>P		No	ClinGen gnomAD
rs1363405437 CA368195130	574	L>R		No	ClinGen gnomAD
rs754732825 CA4342939	575	C>R		No	ClinGen ExAC gnomAD
CA4342937 rs751349091	576	I>T		No	ClinGen ExAC gnomAD
CA368195100 rs1562775365	576	I>V		No	ClinGen Ensembl
CA368195059 rs1321655442	577	C>*		No	ClinGen TOPMed gnomAD
rs1331046012 CA368195077	577	C>R		No	ClinGen TOPMed gnomAD
rs1411791490 CA368195051 CA368195054	578	V>L		No	ClinGen TOPMed gnomAD
rs1168252292 CA368195012	579	H>Q		No	ClinGen gnomAD
CA161992450 rs948409387	581	H>P		No	ClinGen TOPMed
COSM747527 CA368194958 rs1388047206	582	I>V	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1195272780 CA368194930	584	Q>*		No	ClinGen gnomAD
rs528742571 CA4342934	585	G>E		No	ClinGen 1000Genomes ExAC gnomAD
rs1478284015 CA368194911	585	G>R		No	ClinGen gnomAD
CA368194850 rs1196133083	586	W>C		No	ClinGen gnomAD
CA4342933 rs764754041	587	K>E		No	ClinGen ExAC gnomAD
CA368194828 rs1251931171	588	D>Y		No	ClinGen gnomAD
CA4342932 rs761342789	593	R>K		No	ClinGen ExAC TOPMed gnomAD
rs1282838740 CA368194710	594	L>*		No	ClinGen gnomAD
CA368194665 rs1584253799	597	H>P		No	ClinGen Ensembl
CA4342931 rs777021540	597	H>Y		No	ClinGen ExAC gnomAD
rs767325816 CA161992399	598	Q>*		No	ClinGen TOPMed
CA368194658 rs767325816	598	Q>K		No	ClinGen TOPMed
CA368194586 rs1336374390	602	S>*		No	ClinGen gnomAD
CA368194591 COSM1550884 rs1444435470	602	S>A	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs181767582 CA368194548	604	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1408162880 CA368194545	605	C>R		No	ClinGen gnomAD
CA368194542 rs1377517657	605	C>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs775986193 CA4342927	606	I>F		No	ClinGen ExAC gnomAD
rs367869345 CA4342926	610	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1170802631 CA368194476	611	L>F		No	ClinGen TOPMed gnomAD
TCGA novel	612	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779236948 CA4342924	613	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1471135137 CA368194455	613	E>K		No	ClinGen gnomAD
CA368194436 rs1481859165	614	I>N		No	ClinGen gnomAD
rs770928576 CA4342923	614	I>V		No	ClinGen ExAC gnomAD
rs749321461 CA4342922	615	N>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	617	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1211223922 CA368194383	618	I>V		No	ClinGen gnomAD
TCGA novel	619	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs947182169 CA368194348	620	K>I		No	ClinGen TOPMed gnomAD
CA368194359 rs1184610715	620	K>Q		No	ClinGen TOPMed
CA161992365 rs947182169	620	K>R		No	ClinGen TOPMed gnomAD
rs1226716184 CA368194268	627	S>P		No	ClinGen gnomAD
CA368194222 rs1326879426	630	R>K		No	ClinGen TOPMed
CA368194197 rs755177438	632	L>*		No	ClinGen gnomAD
CA161992329 rs755177438	632	L>S		No	ClinGen gnomAD
CA368194188 rs1331951205	633	P>T		No	ClinGen gnomAD
CA4342915 rs750094300	635	I>V		No	ClinGen ExAC TOPMed gnomAD
rs529506807 CA4342914	636	G>C		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	637	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4342912 rs753387240	638	S>L		No	ClinGen ExAC TOPMed gnomAD
rs761237340 CA4342913	638	S>P		No	ClinGen ExAC gnomAD
TCGA novel	639	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	640	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1218400445 CA368194080	642	L>P		No	ClinGen gnomAD
CA4342908 rs772597625	643	K>R		No	ClinGen ExAC gnomAD
rs1268126756 CA368194011	648	I>T		No	ClinGen gnomAD
rs1584253679 CA368194006	649	M>V		No	ClinGen Ensembl
rs149322312 CA4342907	652	L>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA4342906 rs774718479	653	E>G		No	ClinGen ExAC gnomAD
CA368193945 rs1313564165	654	I>N		No	ClinGen gnomAD
CA368193921 rs1227886639	656	C>S		No	ClinGen TOPMed gnomAD
CA4342903 rs773317265	660	C>S		No	ClinGen ExAC gnomAD
CA368193854 rs1584253640	660	C>Y		No	ClinGen Ensembl
TCGA novel	661	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368193833 rs1584253631	661	E>G		No	ClinGen Ensembl
CA368193820 rs1487087558	662	G>D		No	ClinGen Ensembl
CA368193807 rs1584253613	663	T>K		No	ClinGen Ensembl
rs746976269 CA4342901	668	D>N		No	ClinGen ExAC TOPMed gnomAD
CA368193692 rs1203403420	671	K>N		No	ClinGen gnomAD
rs1026536506 CA161992276	678	S>L		No	ClinGen TOPMed gnomAD
CA161992291 rs766374544	678	S>P		No	ClinGen Ensembl
CA161992255 rs375184765	679	K>N		No	ClinGen ESP
CA161992228 rs911063776	681	E>A		No	ClinGen Ensembl
TCGA novel	681	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4342899 rs145864982	681	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1242936205 CA368193522	683	F>C		No	ClinGen TOPMed
CA161992224 rs267601629	687	G>D		No	ClinGen Ensembl
CA4342897 rs778499845	688	K>Q		No	ClinGen ExAC gnomAD
CA368193446 rs1188656521	688	K>R		No	ClinGen TOPMed gnomAD
CA161992196 rs867874670	690	S>P		No	ClinGen Ensembl
CA4342895 rs764448205	691	W>*		No	ClinGen ExAC gnomAD
rs756922616 CA4342896	691	W>R		No	ClinGen ExAC TOPMed gnomAD
CA4342894 rs763629478	692	W>R		No	ClinGen ExAC TOPMed gnomAD
rs1470221576 CA368193346	693	N>K		No	ClinGen gnomAD
CA368193178 rs1230308617	700	S>T		No	ClinGen gnomAD
CA4342889 rs532883519	706	V>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs774762640 CA4342887	707	K>N		No	ClinGen ExAC gnomAD
CA368193016 rs1562775151	707	K>T		No	ClinGen Ensembl
TCGA novel	708	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1293592983 CA368192950	709	D>N		No	ClinGen gnomAD
TCGA novel	710	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs758668269 CA4342885	713	R>I		No	ClinGen ExAC gnomAD
CA161992113 rs1025964626	715	E>D		No	ClinGen Ensembl
CA368192727 rs1428140272	716	A>E		No	ClinGen TOPMed
rs1170148861 CA368192738	716	A>T		No	ClinGen gnomAD
rs773263678 CA4342883	717	M>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs773420311 CA4342880	721	C>R		No	ClinGen ExAC gnomAD
CA368192510 rs1263093039	722	A>V		No	ClinGen TOPMed
CA368192501 rs1321968696	723	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA4342878 rs771996844 COSM1093111	724	S>Y	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA161992096 rs993540133	728	T>R		No	ClinGen Ensembl
rs756902783 CA161992075	734	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs1480787403 CA368192198	735	L>P		No	ClinGen TOPMed
CA4342874 rs749002104 COSM1739343	737	H>R	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
TCGA novel	738	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1301948946 CA368192126	739	P>S		No	ClinGen gnomAD
CA4342873 rs777242540	740	G>S		No	ClinGen ExAC TOPMed gnomAD
rs755699151 CA4342872	741	C>S		No	ClinGen ExAC gnomAD
CA4342871 rs752250037	742	G>R		No	ClinGen ExAC gnomAD
CA368192043 rs1409990491	743	G>A		No	ClinGen TOPMed gnomAD
TCGA novel	743	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368192016 rs1562775062	745	T>A		No	ClinGen Ensembl
rs1398639696 CA368191965	748	M>V		No	ClinGen TOPMed
rs751906946 CA4342868	749	H>Y		No	ClinGen ExAC gnomAD
rs1378693567 CA368191858 CA368191857	752	W>C		No	ClinGen TOPMed gnomAD
CA4342867 rs148339415	752	W>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1175914307 CA368191853	753	E>Q		No	ClinGen TOPMed gnomAD
rs773492970 CA4342865	754	L>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	755	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1183004790 CA368191745	758	F>L		No	ClinGen gnomAD
rs1241800370 CA368191741	759	R>G		No	ClinGen TOPMed
CA4342863 rs776683023	760	C>*		No	ClinGen ExAC TOPMed gnomAD
rs765380924 CA4342864	760	C>R		No	ClinGen ExAC TOPMed gnomAD
CA4342862 rs776683023	760	C>W		No	ClinGen ExAC TOPMed gnomAD
rs772048217 CA4342861	761	A>V		No	ClinGen ExAC gnomAD
rs1203655184 CA368191704	762	V>M		No	ClinGen TOPMed
TCGA novel	763	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4342860 rs138668310	764	K>E		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	768	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368191409 rs1292331375	774	G>E		No	ClinGen TOPMed
CA4342858 rs770783617	775	E>*		No	ClinGen ExAC gnomAD
CA368191394 rs1562775026	775	E>D		No	ClinGen Ensembl
rs1289660577 CA368191400	775	E>G		No	ClinGen gnomAD
CA368191383 rs1228538865	776	Q>E		No	ClinGen gnomAD
CA368191322 rs1349457436	778	T>A		No	ClinGen gnomAD
CA4342856 rs777548695	779	S>R		No	ClinGen ExAC gnomAD
TCGA novel	780	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4342853 COSM1550886 rs780816774	785	A>S	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs780816774 CA4342854	785	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1159996433 CA368191108 CA368191111	786	M>I		No	ClinGen TOPMed gnomAD
CA4342852 rs754494280	786	M>L		No	ClinGen ExAC gnomAD
rs1391546158 CA368191113	786	M>R		No	ClinGen gnomAD
rs1391546158 CA368191115	786	M>T		No	ClinGen gnomAD
rs200048561 CA4342851	787	N>K		No	ClinGen ExAC TOPMed gnomAD
CA368191066 rs1410007797	788	R>C		No	ClinGen TOPMed gnomAD
rs780363399 CA4342850	788	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1424651375 CA368191043	789	Q>*		No	ClinGen gnomAD
rs149202937 CA368191026	789	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs758790726 CA4342849	789	Q>R		No	ClinGen ExAC gnomAD
rs189020649 CA161991807	791	Y>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA161991813 rs910617585	791	Y>H		No	ClinGen TOPMed
rs753962507 CA4342845	792	V>A		No	ClinGen ExAC
CA4342844 rs764190540	794	V>I		No	ClinGen ExAC TOPMed gnomAD
CA368190871 rs1371855217	797	L>I		No	ClinGen TOPMed
rs1562774966 CA368190801	800	D>Y		No	ClinGen Ensembl
CA4342840 rs541996783	803	E>*		No	ClinGen 1000Genomes ExAC gnomAD
CA368190654 RCV000520675 rs1554337067	807	V>I		No	ClinGen ClinVar Ensembl dbSNP
CA368190564 rs1457200198	813	S>C		No	ClinGen gnomAD
rs769609045 CA4342836	814	I>M		No	ClinGen ExAC gnomAD
rs963953327 CA161991684	817	A>G		No	ClinGen TOPMed
rs1165082747 CA368190522	817	A>S		No	ClinGen gnomAD
CA368190526 rs1165082747	817	A>T		No	ClinGen gnomAD
TCGA novel	818	I>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1360447206 CA368190517 COSM357657	818	I>V	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1245520018 CA368190506	819	A>S		No	ClinGen TOPMed
rs868190186 CA161991678	819	A>V		No	ClinGen TOPMed
COSM1093109 CA368190472 RCV000784941 rs1186536794	824	R>*	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD
CA368190470 rs1435946172	824	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs780941321 CA4342834	826	E>G		No	ClinGen ExAC gnomAD
TCGA novel	826	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs185035646 CA4342832	830	V>L		No	ClinGen 1000Genomes ExAC gnomAD
CA4342831 rs185035646	830	V>M		No	ClinGen 1000Genomes ExAC gnomAD
rs1315086645 CA368190411	831	I>V		No	ClinGen gnomAD
rs1189365918 CA368190396	832	I>F		No	ClinGen TOPMed
CA368190373 rs1281452134	834	N>S		No	ClinGen gnomAD
rs1211174577 CA368190365	835	C>R		No	ClinGen TOPMed gnomAD
rs1264534873 CA368190337	837	R>G		No	ClinGen gnomAD
CA368190333 rs1161258885	837	R>K		No	ClinGen TOPMed
rs758821945 CA4342828	837	R>S		No	ClinGen ExAC gnomAD
CA4342827 rs374488670	838	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA368190317 rs1298844045	839	Q>K		No	ClinGen TOPMed gnomAD
rs757579946 CA4342825	842	E>G		No	ClinGen ExAC gnomAD
rs571778033 CA4342824	843	K>I		No	ClinGen 1000Genomes ExAC gnomAD
CA4342823 rs764243484	845	A>V		No	ClinGen ExAC TOPMed
CA368190212 rs1387462152	848	P>S		No	ClinGen gnomAD
CA4342822 rs760814702	849	D>E		No	ClinGen ExAC gnomAD
CA368190176 rs1161627399	851	I>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	852	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA161991485 rs111518136	853	V>A		No	ClinGen Ensembl
rs534758372 CA4342820	853	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs902827679 CA161991477	854	I>V		No	ClinGen TOPMed
rs762767484 CA4342819	855	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA368190088 rs1395482864	859	P>L		No	ClinGen gnomAD
rs765143310 CA4342817	859	P>T		No	ClinGen ExAC gnomAD
CA4342816 rs761640404	861	E>V		No	ClinGen ExAC TOPMed
rs768185403 CA4342813	862	Q>H		No	ClinGen ExAC gnomAD
CA4342814 rs776423173	862	Q>P		No	ClinGen ExAC gnomAD
rs935052997 CA161991424	867	L>I		No	ClinGen Ensembl
CA4342812 RCV001820214 rs746591776	871	E>*		No	ClinGen ClinVar ExAC TOPMed dbSNP
rs772677852 CA4342809 COSM1093108	874	E>*	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs772677852 CA368189929	874	E>K		No	ClinGen ExAC gnomAD
rs1275728694 CA368189913	876	H>Y		No	ClinGen gnomAD
CA4342807 rs149737906	880	E>K		No	ClinGen ESP ExAC gnomAD
rs140921998 CA4342806	881	D>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs868542397 CA161991413	881	D>N		No	ClinGen Ensembl
rs199922969 CA4342805	882	F>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1181483736 COSM1093106 CA368189864	882	F>L	large_intestine Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA4342804 rs778037358	884	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1584253034 CA368189853	884	S>P		No	ClinGen Ensembl
rs752861956 CA4342802	886	M>I		No	ClinGen ExAC gnomAD
rs756267675 CA4342803	886	M>R		No	ClinGen ExAC TOPMed gnomAD
rs1428684888 CA368189841	886	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA368189819 rs1370841140	889	K>Q		No	ClinGen TOPMed
CA4342801 rs767522783	893	N>S		No	ClinGen ExAC gnomAD
rs79303965 RCV000974087 CA4342800	894	K>E		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA368189776 rs1584253002	894	K>N		No	ClinGen Ensembl
rs1179186128 CA368189773	895	E>*		No	ClinGen TOPMed
rs142611434 CA4342799	896	Y>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1417279425 CA368189759	897	I>V		No	ClinGen gnomAD
CA4342797 rs181919575	898	E>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs776558032 CA4342796	900	V>M		No	ClinGen ExAC TOPMed gnomAD
CA368189729 rs1376532119	901	V>A		No	ClinGen gnomAD
rs1584252971 CA368189731	901	V>F		No	ClinGen Ensembl
rs139336044 CA4342794	902	R>Q		No	ClinGen ESP ExAC gnomAD
COSM1664035 CA4342795 rs763861072	902	R>W	kidney [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA368189721 rs1252182538	903	N>I		No	ClinGen gnomAD
CA4342792 rs771506632	904	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1295016722 CA368189707	905	L>P		No	ClinGen TOPMed
rs745326169 CA4342791	907	G>R		No	ClinGen ExAC gnomAD
rs1225316353 CA368189675	910	I>V		No	ClinGen TOPMed
CA161991282 rs918543817	911	F>L		No	ClinGen Ensembl
CA368189648 rs1344954312	914	E>K		No	ClinGen gnomAD
CA4342789 rs771424487	915	A>S		No	ClinGen ExAC gnomAD
rs549974601 CA4342788	916	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1230353822 CA368189635	916	K>Q		No	ClinGen gnomAD
rs777968031 CA4342787	917	L>R		No	ClinGen ExAC gnomAD
rs748338739 CA4342785	919	S>F		No	ClinGen ExAC TOPMed gnomAD
rs369626579 CA4342784	922	A>S		No	ClinGen ESP ExAC gnomAD
rs369626579 CA368189597 COSM287498	922	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD
CA368189594 rs1291884139	922	A>V		No	ClinGen TOPMed gnomAD
rs755110531 CA4342783	923	L>F		No	ClinGen ExAC TOPMed gnomAD
CA4342782 rs374919171	925	N>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs765319328 CA4342781	936	S>*		No	ClinGen ExAC gnomAD
TCGA novel	938	C>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368189496 rs1180925271	938	C>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA368189490 rs1239530122	938	C>W		No	ClinGen TOPMed gnomAD
TCGA novel	940	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs963702927 CA161991182	942	L>S		No	ClinGen TOPMed
CA368189457 rs1442318478	943	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA368189448 rs1261886731	944	I>S		No	ClinGen gnomAD
CA368189445 rs1210656416	945	G>R		No	ClinGen gnomAD
rs1199442199 CA368189423	948	K>E		No	ClinGen TOPMed
rs1430622499 CA368189421	948	K>T		No	ClinGen TOPMed
rs151038564 CA4342779	949	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs151038564 CA4342778	949	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1267586744 CA368189412	950	F>L		No	ClinGen gnomAD
rs1381643077 CA368189402	951	W>*		No	ClinGen TOPMed gnomAD
rs1381643077 CA368189400	951	W>L		No	ClinGen TOPMed gnomAD
CA161991141 rs959103332	951	W>R		No	ClinGen TOPMed gnomAD
CA4342776 rs760472475	952	G>A		No	ClinGen ExAC TOPMed gnomAD
rs201505731 RCV001817060 CA4342777 RCV000879845 CA368189395	952	G>R		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1334986461 CA368189387	953	T>I		No	ClinGen TOPMed gnomAD
rs1002606282 CA161991107	954	E>G		No	ClinGen TOPMed
rs201250385 CA4342775	956	F>I		No	ClinGen ExAC TOPMed gnomAD
rs767133608 CA4342774	956	F>S		No	ClinGen ExAC gnomAD
CA368189363 rs1458757636	957	E>*		No	ClinGen gnomAD
CA368189340 rs1221609167	960	M>V		No	ClinGen TOPMed
rs759114422 CA4342772	961	G>C		No	ClinGen ExAC gnomAD
CA4342771 rs773839015	963	Y>H		No	ClinGen ExAC gnomAD
CA368189309 rs1426492394	964	S>C		No	ClinGen gnomAD
rs771467459 CA4342770	966	I>F		No	ClinGen ExAC gnomAD
rs764933913 CA161991061	971	E>D		No	ClinGen Ensembl
CA368189233 CA368189234 rs867375532	976	G>R		No	ClinGen TOPMed gnomAD
CA161991060 rs867375532	976	G>W		No	ClinGen TOPMed gnomAD
CA368189218 COSM354894 rs1241697603	978	Y>C	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA161991059 rs982076713	978	Y>H		No	ClinGen Ensembl
rs370900227 CA4342769	979	C>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1465767520 COSM602762 CA368189200	981	V>L	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
RCV001091387 rs774215434	985	H>missing		No	ClinVar dbSNP
CA368189158 rs1290938428	987	L>S		No	ClinGen gnomAD
CA4342767 rs773718012	988	I>T		No	ClinGen ExAC gnomAD
CA368189148 COSM1093103 rs1358384466	989	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1312691976 CA368189135	990	E>D		No	ClinGen gnomAD
CA368189115 rs1437132950	994	E>K		No	ClinGen gnomAD
rs748476361 CA4342765	998	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1490345792 CA368189079	998	K>N		No	ClinGen TOPMed
rs1428124013 CA368189062	1000	Y>*		No	ClinGen gnomAD
TCGA novel	1000	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368189059 rs1351245494	1001	H>Y		No	ClinGen gnomAD
rs563839759 CA4342764	1002	L>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4342762 rs747139029	1005	S>T		No	ClinGen ExAC gnomAD
CA161991004 rs760546785	1008	M>K		No	ClinGen Ensembl
rs780254598 CA4342761	1008	M>V		No	ClinGen ExAC TOPMed gnomAD
COSM394350 CA368188996 rs1159405890	1010	D>Y	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs893964928 CA161990996	1013	T>I		No	ClinGen TOPMed
TCGA novel	1013	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368188955 rs1426721125	1016	L>M		No	ClinGen TOPMed
CA4342758 COSM198396 rs753744139	1019	D>N	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA161990955 rs1039989488	1020	T>I		No	ClinGen TOPMed gnomAD
CA368188916 rs1489928144	1021	G>D		No	ClinGen gnomAD
CA368188909 rs1403067534	1022	M>I		No	ClinGen TOPMed
rs1342781533 CA368188910	1022	M>R		No	ClinGen TOPMed gnomAD
rs1342781533 CA368188911	1022	M>T		No	ClinGen TOPMed gnomAD
rs755868139 CA4342756	1022	M>V		No	ClinGen ExAC gnomAD
TCGA novel	1023	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1299787673 CA368188896	1024	K>R		No	ClinGen TOPMed
rs1212750616 CA368188887	1025	S>I		No	ClinGen gnomAD
TCGA novel	1025	S>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368188859 rs1369011920	1029	Q>*		No	ClinGen gnomAD
CA161990928 rs527335660	1030	D>H		No	ClinGen 1000Genomes
CA4342753 rs759155667	1031	M>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1031	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368188822 rs1490656723	1034	L>F		No	ClinGen TOPMed gnomAD
rs762391460 CA4342750	1037	T>P		No	ClinGen ExAC TOPMed gnomAD
rs1430869194 CA368188796	1038	R>S		No	ClinGen gnomAD
rs201576502 CA4342747	1040	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201576502 CA4342748	1040	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4342746 COSM1452867 rs372955426	1040	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1791562308 RCV001326169	1044	E>D		No	ClinVar dbSNP
rs576422045 CA4342743	1045	G>D		No	ClinGen 1000Genomes ExAC gnomAD
CA161990827 rs1040705446	1045	G>S		No	ClinGen Ensembl
CA368188659 rs267601628	1052	S>C		No	ClinGen gnomAD
CA161990818 rs267601628	1052	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs772294939 CA4342742	1052	S>P		No	ClinGen ExAC gnomAD
rs267601628 CA368188661	1052	S>Y		No	ClinGen gnomAD
CA368188647 rs1313900953	1054	F>S		No	ClinGen TOPMed gnomAD
rs889561142 CA161990802	1057	A>V		No	ClinGen TOPMed
CA4342737 rs377438913	1059	H>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs188451434 CA368188613	1059	H>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs377438913 CA4342736	1059	H>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4342738 rs756066590	1059	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA368188600 rs1355058668	1061	D>G		No	ClinGen TOPMed
rs751226142 CA4342734	1061	D>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4342732 rs373641119	1064	N>K		No	ClinGen 1000Genomes ExAC gnomAD
rs1050904688 CA161990765	1064	N>S		No	ClinGen TOPMed
CA161990746 rs919338122	1066	A>E		No	ClinGen TOPMed
CA368188542 rs1468351986	1070	V>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
RCV000908064 RCV001818803 CA4342729 rs144312575	1072	L>P		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	1075	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776966331 CA4342728	1076	H>Q		No	ClinGen ExAC gnomAD
CA368188481 rs1273026568	1076	H>R		No	ClinGen TOPMed
rs1249495254 CA368188472	1077	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA368188474 COSM1093100 rs1199145168	1077	R>W	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA368188439 rs1175313979	1080	P>A		No	ClinGen gnomAD
CA368188422 rs1484175187	1081	N>I		No	ClinGen gnomAD
CA368188420 rs139484963	1081	N>K		No	ClinGen ESP TOPMed
rs761066297 CA161990684	1083	F>L		No	ClinGen ExAC TOPMed gnomAD
CA4342725 rs764579322	1083	F>S		No	ClinGen ExAC gnomAD
CA368188388 rs1320721453	1084	I>N		No	ClinGen gnomAD
TCGA novel	1085	C>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775859770 CA4342723	1086	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA4342722 rs772420263 RCV001327755 RCV001820018	1086	Q>P		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA4342721 rs374889916	1087	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA368186101 rs1336582764	1090	R>S		No	ClinGen gnomAD
CA368186095 rs1468704322	1091	H>Y		No	ClinGen gnomAD
COSM1741766 rs781049422 CA4342717	1093	Y>C	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA368186057 rs1242792993	1094	I>V		No	ClinGen TOPMed
CA4342716 rs754771247	1096	K>N		No	ClinGen ExAC gnomAD
CA368185964 rs1471902652	1100	G>V		No	ClinGen TOPMed
CA368185941 rs1362319999	1102	A>D		No	ClinGen TOPMed gnomAD
CA368185944 rs1362319999	1102	A>V		No	ClinGen TOPMed gnomAD
rs746799013 CA368185936	1103	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA368185894 rs1434170977	1106	A>E		No	ClinGen gnomAD
CA368185872 rs1409346812	1108	Q>*		No	ClinGen TOPMed
rs758043725 CA4342713	1111	I>F		No	ClinGen ExAC TOPMed gnomAD
rs758043725 CA368185833	1111	I>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1113	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs909485395 CA161990599	1114	P>R		No	ClinGen TOPMed gnomAD
CA368185798 rs1382508495	1114	P>T		No	ClinGen Ensembl
CA368185781 rs1249323755	1115	D>H		No	ClinGen gnomAD
CA368185748 rs1584252440	1117	S>F		No	ClinGen Ensembl
CA368185742 rs1335763070	1118	Y>D		No	ClinGen TOPMed
rs764837624 CA4342711	1119	I>F		No	ClinGen ExAC gnomAD
rs368299433 CA161990586	1121	D>G		No	ClinGen ESP
rs756675922 CA4342710	1121	D>Y		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1122	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368185691 rs754414260	1122	T>I		No	ClinGen ExAC TOPMed gnomAD
CA4342709 rs754414260	1122	T>R		No	ClinGen ExAC TOPMed gnomAD
CA368185682 rs1322632578	1123	L>R		No	ClinGen gnomAD
rs144682052 CA161990573	1124	G>D		No	ClinGen ESP gnomAD
CA368185628 rs1562774335	1128	K>R		No	ClinGen Ensembl
rs761188861 CA4342707	1133	W>*		No	ClinGen ExAC gnomAD
CA368185516 rs1270334861	1133	W>*		No	ClinGen TOPMed
CA368185527 rs1321263432	1133	W>R		No	ClinGen gnomAD
rs1360621625 CA368185481	1134	W>*		No	ClinGen TOPMed
CA368185483 rs1383052650	1134	W>R		No	ClinGen gnomAD
rs767683953 CA4342705	1135	I>M		No	ClinGen ExAC gnomAD
rs376829052 CA4342706	1135	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs759775100 CA4342704	1136	E>*		No	ClinGen ExAC gnomAD
COSM602765 rs749260299 CA4342701	1142	G>R	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs928828925 CA161990521	1145	S>T		No	ClinGen TOPMed
CA4342698 rs746851927	1146	V>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA4342699 rs746851927	1146	V>I		No	ClinGen ExAC gnomAD
rs1262900622 CA368185046	1150	I>L		No	ClinGen TOPMed
rs750579288 CA4342696	1150	I>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1151	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1490417831 CA368185017	1151	A>V		No	ClinGen TOPMed gnomAD
rs1791553808 RCV001342630	1152	L>V		No	ClinVar dbSNP
rs866347771 CA161990481	1153	L>V		No	ClinGen Ensembl
TCGA novel	1154	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1154	D>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368184881 rs1299065278	1158	H>Y		No	ClinGen TOPMed gnomAD
rs1428995324 CA368184785	1161	S>R		No	ClinGen gnomAD
CA4342692 rs149420683	1165	E>Q		No	ClinGen ESP ExAC gnomAD
CA4342691 rs778482425	1166	S>C		No	ClinGen ExAC gnomAD
CA4342690 rs756669343	1168	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs767945606 CA368184570	1172	D>E		No	ClinGen ExAC TOPMed gnomAD
CA161990396 rs765358183	1172	D>Y		No	ClinGen Ensembl
TCGA novel	1173	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4342687 rs566059003 RCV001818821 RCV000909634	1173	R>S		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1422579495 CA368184558	1173	R>T		No	ClinGen gnomAD
rs751811624 CA4342686 RCV001317422	1175	Y>*		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs200851267 CA161990383	1175	Y>H		No	ClinGen Ensembl
CA368184484 rs1475061694	1177	V>A		No	ClinGen gnomAD
CA161990361 rs766505454	1179	E>G		No	ClinGen ExAC TOPMed gnomAD
CA4342685 rs766505454	1179	E>V		No	ClinGen ExAC TOPMed gnomAD
rs1200433231 CA368184422	1181	L>F		No	ClinGen gnomAD
rs957239536 CA161990357	1181	L>S		No	ClinGen TOPMed
rs1480540811 CA368184393	1183	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA161990334 rs879098714	1184	K>E		No	ClinGen Ensembl
RCV001008263 rs1584252276	1187	R>missing		No	ClinVar dbSNP
rs368696956 CA4342682	1188	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1188	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368184241 rs1584252251	1194	I>M		No	ClinGen Ensembl
CA368184244 rs1274150959	1194	I>T		No	ClinGen gnomAD
CA4342681 rs760635054	1196	G>A		No	ClinGen ExAC gnomAD
rs1007250074 CA161990296	1196	G>R		No	ClinGen TOPMed
CA4342680 rs775361202	1198	Q>K		No	ClinGen ExAC gnomAD
rs891030635 CA161990283	1199	G>R		No	ClinGen TOPMed gnomAD
CA161990278 rs1031601806	1201	I>R		No	ClinGen TOPMed gnomAD
rs771916377 CA4342679	1201	I>V		No	ClinGen ExAC gnomAD
CA4342678 rs745587716	1202	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1050953316 CA161990272	1202	E>K		No	ClinGen TOPMed
TCGA novel	1203	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs901457289 CA161990256	1203	V>F		No	ClinGen Ensembl
rs1411903547 CA368184059	1208	I>V		No	ClinGen gnomAD
CA368184023 rs1271123812	1210	I>V		No	ClinGen TOPMed
rs748856394 CA4342675	1212	Q>H		No	ClinGen ExAC gnomAD
CA368183981 rs1490512363	1212	Q>R		No	ClinGen TOPMed
rs1409277212 CA368183940	1214	I>V		No	ClinGen gnomAD
CA4342674 rs34229036	1215	P>H		No	ClinGen ESP ExAC TOPMed gnomAD
RCV001338232 CA4342672 rs34229036	1215	P>L		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA4342673 rs34229036	1215	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs183833462 CA4342670	1217	F>L		No	ClinGen 1000Genomes ExAC gnomAD
rs762437452 CA4342669	1217	F>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1218	D>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368183829 rs1233759063	1218	D>V		No	ClinGen gnomAD
CA368183764 rs1217426475	1220	K>T		No	ClinGen gnomAD
CA4342666 rs200614323	1221	N>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1281426594 CA368183713	1222	E>*		No	ClinGen gnomAD
rs765325849 CA4342663	1226	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1304504966 CA368183609	1226	R>T		No	ClinGen TOPMed
rs373722071 CA4342662	1227	Y>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA4342661 rs373722071	1227	Y>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA368183573 rs1374393583	1228	M>I		No	ClinGen gnomAD
rs887804474 CA161990196	1229	V>A		No	ClinGen TOPMed gnomAD
CA368183555 rs1279886800	1229	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs771903224 CA4342660	1230	N>S		No	ClinGen ExAC gnomAD
rs1336024249 CA368183508	1231	F>S		No	ClinGen gnomAD
rs759434397 CA4342659	1231	F>V		No	ClinGen ExAC gnomAD
CA368183489 rs1173660476	1232	V>A		No	ClinGen TOPMed gnomAD
rs1404666480 CA368183499	1232	V>I		No	ClinGen gnomAD
rs371510515 CA161990159	1233	S>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs371510515 CA4342655	1233	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
RCV001312127 rs1791548042	1234	G>E		No	ClinVar dbSNP
rs769432527 CA4342654	1234	G>R		No	ClinGen ExAC gnomAD
CA161990137 rs1037288683	1235	S>I		No	ClinGen gnomAD
rs781751533 CA4342652	1236	S>I		No	ClinGen ExAC gnomAD
rs371082830 CA4342651	1237	D>A		No	ClinGen ESP ExAC gnomAD
CA368183304 rs1210713142	1238	I>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs547209617 CA4342650	1238	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs780310469 CA4342649	1240	G>A		No	ClinGen ExAC gnomAD
rs141933427 CA4342648	1241	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA4342647 rs201492733	1242	P>L		No	ClinGen ESP ExAC gnomAD
CA368183183 rs1348188725	1243	N>K		No	ClinGen gnomAD
rs1316930103 CA368183179	1244	N>D		No	ClinGen gnomAD
CA368183174 rs1338996171	1244	N>S		No	ClinGen gnomAD
CA368183156 rs1382004596	1245	E>*		No	ClinGen gnomAD
rs765379128 CA4342645	1245	E>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1245	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753852959 CA4342643	1246	Y>*		No	ClinGen ExAC gnomAD
CA4342644 rs376485016	1246	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA368183082 rs1398627129	1247	K>N		No	ClinGen TOPMed gnomAD
CA4342642 rs527257787	1248	L>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1562774068 CA368183045	1249	A>T		No	ClinGen Ensembl
CA161990036 rs980016258	1250	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1164670773 CA368182998	1251	K>Q		No	ClinGen gnomAD
CA4342641 rs759361395	1253	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs774306893 CA4342640	1254	I>F		No	ClinGen ExAC gnomAD
rs766301292 CA4342639	1255	P>L		No	ClinGen ExAC TOPMed gnomAD
CA368182859 rs1405843481	1255	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs561493201 CA161990009	1256	Y>F		No	ClinGen 1000Genomes
rs946177477 CA161990008	1258	T>I		No	ClinGen TOPMed
CA161989979 rs776273788	1263	S>P		No	ClinGen gnomAD
TCGA novel	1263	S>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs990278730 COSM1093093 CA161989974	1263	S>Y	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA161989958 rs369488588	1266	K>M		No	ClinGen Ensembl
rs769555827 CA368182565	1269	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4342636 rs769555827	1269	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs748414027	1271	F>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
RCV000911018 CA4342635 rs201873378	1271	F>S		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs748414027	1272	D>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1312764025 CA368182458	1272	D>V		No	ClinGen gnomAD
CA368182384 rs768168544	1274	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs1383745177 CA368182376	1275	F>Y		No	ClinGen TOPMed
rs780478950 CA4342629	1276	V>D		No	ClinGen ExAC gnomAD
rs746230792 CA4342627	1283	N>S		No	ClinGen ExAC TOPMed gnomAD
CA368182180 rs1170957713	1285	K>*		No	ClinGen gnomAD
rs1584251963 CA368182170	1285	K>R		No	ClinGen Ensembl
rs1429658438 CA368182162	1286	Q>*		No	ClinGen gnomAD
rs1341453661 CA368182117	1288	E>*		No	ClinGen TOPMed
rs989468116 CA161989878	1288	E>D		No	ClinGen Ensembl
CA4342626 rs779168326	1289	E>A		No	ClinGen ExAC gnomAD
CA161989860 rs779168326	1289	E>G		No	ClinGen ExAC gnomAD
TCGA novel	1289	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1479109813 CA368182066	1290	A>T		No	ClinGen gnomAD
rs1490107074 CA368181967	1295	K>N		No	ClinGen gnomAD
CA4342620 rs562819331	1296	V>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4342621 rs768318837	1296	V>M		No	ClinGen ExAC TOPMed gnomAD
CA368181952 rs1243383645	1297	A>P		No	ClinGen TOPMed
TCGA novel	1299	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1308059803 CA368181922	1299	Y>H		No	ClinGen gnomAD
rs1271643942 CA368181863	1302	K>N		No	ClinGen gnomAD
rs1212356791 CA368181854	1303	Y>F		No	ClinGen gnomAD
CA368181858 rs1207677487	1303	Y>H		No	ClinGen gnomAD
rs762899305 CA4342619	1306	I>T		No	ClinGen ExAC gnomAD
TCGA novel	1306	I>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4342618 rs374998533	1307	F>L		No	ClinGen ESP ExAC gnomAD
CA368181759 rs1343979935	1308	C>F		No	ClinGen gnomAD
rs765018539 CA4342617	1312	E>A		No	ClinGen ExAC gnomAD
CA161989802 rs765018539	1312	E>G		No	ClinGen ExAC gnomAD
rs1374287516 CA368181689	1312	E>K		No	ClinGen TOPMed
rs761400623 CA4342616	1313	S>P		No	ClinGen ExAC TOPMed gnomAD
CA368181549 rs1584251847	1320	G>R		No	ClinGen Ensembl
rs768062562 CA4342614	1321	S>T		No	ClinGen ExAC gnomAD
rs746463339 CA4342613	1323	F>L		No	ClinGen ExAC gnomAD
CA4342612 rs776046152	1324	S>N		No	ClinGen ExAC gnomAD
rs1400144334 CA368181443	1326	P>S		No	ClinGen TOPMed
CA4342611 rs772557935	1330	E>G		No	ClinGen ExAC gnomAD
CA368181312 rs1562773888	1332	C>R		No	ClinGen Ensembl
COSM1093090 rs141248575 CA4342610	1334	R>I	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA368181206 rs1339027871	1336	L>P		No	ClinGen TOPMed
rs779219130 CA4342609	1337	V>A		No	ClinGen ExAC TOPMed gnomAD
rs779219130 CA368181187	1337	V>G		No	ClinGen ExAC TOPMed gnomAD
rs1266481103 CA368181198	1337	V>I		No	ClinGen TOPMed gnomAD
rs771288483 CA368181168	1338	A>D		No	ClinGen ExAC TOPMed gnomAD
CA4342608 rs771288483	1338	A>G		No	ClinGen ExAC TOPMed gnomAD
CA368181062 rs1250745739	1343	K>E		No	ClinGen TOPMed gnomAD
rs1252475158 CA368181043	1344	F>L		No	ClinGen Ensembl
CA368180962 rs749496405	1347	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA4342607 rs749496405	1347	L>V		No	ClinGen ExAC gnomAD
rs376068011 CA4342606	1355	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
RCV000916845 RCV003151218 rs202023980 CA4342605	1356	E>G		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1222464630 CA368180755	1357	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA368180738 rs1321027902	1358	A>T		No	ClinGen gnomAD
TCGA novel	1359	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368180698 rs1205348425	1361	T>S		No	ClinGen TOPMed
rs752806986 CA4342604	1362	M>V		No	ClinGen ExAC gnomAD
CA4342603 rs780189191	1363	K>T		No	ClinGen ExAC gnomAD
CA161989751 rs896918681	1365	I>M		No	ClinGen TOPMed gnomAD
CA4342602 rs577145375	1365	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs750342178 CA4342601	1366	V>A		No	ClinGen ExAC gnomAD
rs761608598 CA4342599	1367	N>S		No	ClinGen ExAC gnomAD
RCV001818234 CA4342597 RCV000899567 rs138600971 COSM106735	1368	E>K	skin [Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs760164618 CA4342596	1369	Y>H		No	ClinGen ExAC gnomAD
rs779349886 RCV001945322	1370	T>missing		No	ClinVar dbSNP
COSM3833490 CA4342595 rs774962440	1370	T>A	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA4342594 rs772607200	1370	T>S		No	ClinGen ExAC gnomAD
TCGA novel	1376	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1377	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1382	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368180433 rs1355457231	1383	K>E		No	ClinGen gnomAD
TCGA novel	1384	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368180364 rs1305344933	1388	F>C		No	ClinGen gnomAD
rs375558119 CA4342589	1388	F>L		No	ClinGen ESP ExAC
CA4342587 rs369780909	1389	I>T		No	ClinGen ExAC TOPMed gnomAD
CA368180359 rs1170410823	1389	I>V		No	ClinGen TOPMed gnomAD
rs1450617467 CA368180281	1395	L>F		No	ClinGen gnomAD
rs201179431 CA161989629	1397	C>R		No	ClinGen 1000Genomes
rs1382855037 CA368180247	1398	I>F		No	ClinGen TOPMed
CA368180235 rs1297597610	1399	Q>*		No	ClinGen TOPMed
rs748277849 CA4342584	1399	Q>P		No	ClinGen ExAC gnomAD
CA4342583 rs781448421	1400	P>H		No	ClinGen ExAC gnomAD
RCV000998839 rs1584251663 CA368180226	1400	P>S		No	ClinGen ClinVar Ensembl dbSNP
rs1156660931 CA368180209	1401	T>I		No	ClinGen gnomAD
CA368180205 rs1225265070	1402	S>P		No	ClinGen TOPMed
CA161989571 rs907466250	1403	R>K		No	ClinGen TOPMed gnomAD
CA368180152 rs1311368609	1406	K>N		No	ClinGen TOPMed
CA368180143 rs1182426012	1407	P>L		No	ClinGen gnomAD
rs1421477770 CA368180139	1408	V>F		No	ClinGen gnomAD
TCGA novel	1409	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368180085 rs1387806354	1412	K>N		No	ClinGen gnomAD
TCGA novel	1413	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4342581 rs750395585	1414	Q>H		No	ClinGen ExAC gnomAD
CA368180053 rs1205307873	1415	L>V		No	ClinGen gnomAD
CA368180044 COSM1093088 rs1584251629	1416	R>*	large_intestine endometrium breast [Cosmic]	No	ClinGen cosmic curated Ensembl
CA4342580 rs778841567	1416	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	1419	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1259301181 CA368179999	1420	Q>E		No	ClinGen gnomAD
CA4342579 rs757068675	1421	P>L		No	ClinGen ExAC gnomAD
rs753657052 CA4342578	1422	I>T		No	ClinGen ExAC TOPMed gnomAD
rs763706544 CA4342577	1423	G>V		No	ClinGen ExAC TOPMed gnomAD
CA4342576 rs760347799	1424	L>R		No	ClinGen ExAC gnomAD
rs767036832 CA4342574	1426	Y>D		No	ClinGen ExAC gnomAD
rs767036832 CA4342575	1426	Y>H		No	ClinGen ExAC gnomAD
rs1296412011 CA368179902	1427	Q>R		No	ClinGen gnomAD
rs758989973 CA4342573	1429	S>P		No	ClinGen ExAC gnomAD
rs774845704 CA4342572	1431	P>L		No	ClinGen ExAC TOPMed gnomAD
rs948631866 CA161989480	1433	F>L		No	ClinGen Ensembl
CA368179690 rs1426433587	1436	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs773595084 CA4342568	1437	L>F		No	ClinGen ExAC gnomAD
rs770014195 CA4342567	1439	F>S		No	ClinGen ExAC TOPMed gnomAD
CA368179618 rs1179738515	1440	W>R		No	ClinGen TOPMed gnomAD
CA161989427 rs552576227	1441	P>T		No	ClinGen gnomAD
rs1260666311 CA368179547	1443	N>S		No	ClinGen gnomAD
CA368179542 rs1490596001	1444	Q>K		No	ClinGen gnomAD
TCGA novel	1448	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs914472275 CA161989419	1449	H>R		No	ClinGen Ensembl
CA4342562 rs747079757	1453	M>I		No	ClinGen ExAC gnomAD
rs768858360 CA4342563	1453	M>V		No	ClinGen ExAC TOPMed gnomAD
rs778776035 CA4342561	1456	Y>C		No	ClinGen ExAC gnomAD
CA368179230 rs1226870919	1456	Y>D		No	ClinGen TOPMed gnomAD
CA368179231 rs1226870919	1456	Y>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA368179210 rs1285365179	1457	A>S		No	ClinGen gnomAD
CA4342560 rs372311066	1459	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA368179136 rs1302370214	1462	N>S		No	ClinGen gnomAD
rs935789587 CA161989402	1463	S>P		No	ClinGen TOPMed
CA368179119 rs1398631669 COSM1093086	1463	S>Y	oesophagus endometrium Variant assessed as Somatic; 4.625e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA4342558 COSM747531 rs777659284	1464	F>L	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
COSM747531 rs1460994810 CA368179102	1464	F>L	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA161989375 rs978197631 CA368178956	1471	M>I		No	ClinGen TOPMed gnomAD
CA161989380 rs866466388	1471	M>T		No	ClinGen TOPMed gnomAD
CA4342554 rs754538109	1472	H>R		No	ClinGen ExAC gnomAD
rs767093575 CA4342555	1472	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA4342553 rs145665736	1473	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA4342552 rs766831754	1473	R>H	Variant assessed as Somatic; 4.627e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1029597437 CA161989353	1477	P>S		No	ClinGen TOPMed gnomAD
rs1426658202 CA368178848	1480	Y>C		No	ClinGen TOPMed
rs773543514 CA4342550	1480	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs576323214 CA4342548	1484	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA368178715 rs1390777495	1486	G>R		No	ClinGen gnomAD
rs770613148 CA161989345	1487	K>E		No	ClinGen Ensembl
rs556478940 CA4342547	1487	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	1488	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1488	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368178670 rs1178024491	1488	R>T		No	ClinGen gnomAD
TCGA novel	1490	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs112101846 CA161989323	1492	L>R		No	ClinGen Ensembl
CA368178546 rs1171170751	1494	H>Q		No	ClinGen gnomAD
rs1428248221 CA368178569	1494	H>Y		No	ClinGen gnomAD
CA368178497 rs1471327817	1496	G>A		No	ClinGen gnomAD
TCGA novel	1498	I>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775609244 CA4342544	1499	D>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs747136998 CA4342545	1499	D>N		No	ClinGen ExAC gnomAD
CA368178456 rs775609244	1499	D>V		No	ClinGen ExAC TOPMed gnomAD
CA4342543 rs376666275	1504	K>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA4342542 rs749274318	1505	T>I		No	ClinGen ExAC gnomAD
rs1204463780 CA368178300	1506	P>A		No	ClinGen gnomAD
CA4342541 rs149043237	1506	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA161989254 rs149043237	1506	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs755910665 CA368178268	1507	D>G		No	ClinGen ExAC gnomAD
rs755910665 CA4342540	1507	D>V		No	ClinGen ExAC gnomAD
TCGA novel	1507	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754591162 CA4342537	1512	W>*		No	ClinGen ExAC gnomAD
rs1424807533 CA368177909	1518	W>*		No	ClinGen gnomAD
CA368177793 rs200178876	1520	E>K		No	ClinGen ExAC TOPMed gnomAD
CA368177730 rs1384464613	1521	E>G		No	ClinGen TOPMed
RCV001819087 CA4342535 RCV000968884 rs115350620	1521	E>K		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1001506863 CA161989232	1522	K>E		No	ClinGen TOPMed
CA4342534 rs757789319	1524	Q>*		No	ClinGen ExAC gnomAD
CA4342533 rs750944075	1524	Q>R		No	ClinGen ExAC gnomAD
rs765833713 CA4342532	1526	L>F		No	ClinGen ExAC gnomAD
CA4342531 COSM257944 rs762323380	1529	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA4342529 rs570738604	1532	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA368177297 rs375396225	1533	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
TCGA novel	1533	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761010661 CA4342528	1534	A>V		No	ClinGen ExAC gnomAD
CA161989161 rs1044269550	1535	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs772210481 CA4342524	1538	C>R		No	ClinGen ExAC gnomAD
rs759469955 CA4342523	1539	L>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs554366252 CA4342522	1540	Y>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4342521 rs769695602	1541	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1246626623 CA368176950	1544	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA4342520 rs772735644	1544	G>R		No	ClinGen ExAC TOPMed gnomAD
CA4342519 rs780992178	1546	N>S		No	ClinGen ExAC gnomAD
CA368176832 rs1432422181	1548	K>N		No	ClinGen gnomAD
rs768387962 CA4342518	1549	I>F		No	ClinGen ExAC TOPMed gnomAD
rs761819522	1549	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768387962 CA368176810	1549	I>V		No	ClinGen ExAC TOPMed gnomAD
CA368176728 COSM1093083 rs1367856817	1551	I>M	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
rs140323585 CA161989083	1551	I>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA
CA368176706 rs1164733782	1552	P>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA368176720 rs1223109287	1552	P>S		No	ClinGen gnomAD
rs146732631 CA4342515	1553	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs746687981 CA4342516	1553	I>V		No	ClinGen ExAC TOPMed gnomAD
RCV001818947 rs34896991 RCV000948780 CA4342513	1556	A>T		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA4342510 rs150862618 TCGA novel RCV000884658	1558	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD NCI-TCGA
CA4342509 rs142271975	1560	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1571	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1188289738 CA368176013	1572	F>L		No	ClinGen TOPMed
rs148724199 RCV001817071 RCV000881468 CA4342506	1575	G>E		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001305344 rs148724199	1575	G>V		No	ClinVar dbSNP
CA4342505 rs373623328	1577	S>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
RCV000948779 rs144380633 CA4342504 RCV001818946	1578	I>T		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs761757618 CA4342502	1579	G>E		No	ClinGen ExAC gnomAD
rs1333123884 CA368175737	1580	G>D		No	ClinGen TOPMed
CA4342501 rs776490364	1580	G>S		No	ClinGen ExAC TOPMed gnomAD
CA4342500 rs768443589	1581	P>L		No	ClinGen ExAC gnomAD
rs746774992 CA4342499	1582	L>F		No	ClinGen ExAC gnomAD
rs779813128 CA4342498	1583	A>T		No	ClinGen ExAC gnomAD
CA4342497 rs771600651	1583	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs745425438 CA4342496	1584	Y>D		No	ClinGen ExAC gnomAD
rs144109966 CA4342495	1587	E>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA368175350 rs1432292521	1589	V>A		No	ClinGen TOPMed
rs1455031791 CA576706765	1590	V>=		No	ClinGen gnomAD

3 associated diseases with Q5K651

[MIM: 610455]: Tumoral calcinosis, normophosphatemic, familial (NFTC)

An uncommon, life-threatening disorder characterized by progressive deposition of calcified masses in cutaneous and subcutaneous tissues. Serum phosphate levels are normal. Clinical features include painful calcified ulcerative lesions and massive calcium deposition in the mid- and lower dermis, severe skin and bone infections, erythematous papular skin eruption in infancy, conjunctivitis, and gingivitis. NFTC shows a striking resemblance to acquired dystrophic calcinosis, in which tissue calcification occurs as a consequence of tissue injury/inflammation. {ECO:0000269|PubMed:16960814, ECO:0000269|PubMed:18094730}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 617053]: MIRAGE syndrome (MIRAGE)

A form of syndromic adrenal hypoplasia characterized by myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy. {ECO:0000269|PubMed:27182967}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 619041]: Monosomy 7 myelodysplasia and leukemia syndrome 2 (M7MLS2)

A hematologic disorder manifesting in early childhood and characterized by bone marrow dyspoiesis, pancytopenia, myelodysplastic syndrome or acute myelogenous leukemia, associated with monosomy 7 in the bone marrow. Disease severity is highly variable. Inheritance is autosomal dominant with incomplete penetrance. {ECO:0000269|PubMed:30046003}. Note=The disease is caused by variants affecting the gene represented in this entry. Germline mutations in SAMD9 with a suppressive effect on the cell cycle are associated with somatic loss of the chromosome 7 harboring the mutant allele. This results in the deletion of several genes and predisposes to the development of myelodysplastic syndrome and acute myelogenous leukemia. {ECO:0000269|PubMed:30046003}.

Without disease ID

An uncommon, life-threatening disorder characterized by progressive deposition of calcified masses in cutaneous and subcutaneous tissues. Serum phosphate levels are normal. Clinical features include painful calcified ulcerative lesions and massive calcium deposition in the mid- and lower dermis, severe skin and bone infections, erythematous papular skin eruption in infancy, conjunctivitis, and gingivitis. NFTC shows a striking resemblance to acquired dystrophic calcinosis, in which tissue calcification occurs as a consequence of tissue injury/inflammation. {ECO:0000269|PubMed:16960814, ECO:0000269|PubMed:18094730}. Note=The disease is caused by variants affecting the gene represented in this entry.
A form of syndromic adrenal hypoplasia characterized by myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy. {ECO:0000269|PubMed:27182967}. Note=The disease is caused by variants affecting the gene represented in this entry.
A hematologic disorder manifesting in early childhood and characterized by bone marrow dyspoiesis, pancytopenia, myelodysplastic syndrome or acute myelogenous leukemia, associated with monosomy 7 in the bone marrow. Disease severity is highly variable. Inheritance is autosomal dominant with incomplete penetrance. {ECO:0000269|PubMed:30046003}. Note=The disease is caused by variants affecting the gene represented in this entry. Germline mutations in SAMD9 with a suppressive effect on the cell cycle are associated with somatic loss of the chromosome 7 harboring the mutant allele. This results in the deletion of several genes and predisposes to the development of myelodysplastic syndrome and acute myelogenous leukemia. {ECO:0000269|PubMed:30046003}.

1 regional properties for Q5K651

Type	Name	Position	InterPro Accession
domain	Sterile alpha motif domain	11 - 77	IPR001660

Functions

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

3 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
intracellular membrane-bounded organelle	Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

1 GO annotations of biological process

Name	Definition
endosomal vesicle fusion	The homotypic fusion of endocytic vesicles to form or add to an early endosome.

No homologous proteins in AiPD

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

10	20	30	40	50	60
MAKQLNLPEN	TDDWTKEDVN	QWLESHKIDQ	KHREILTEQD	VNGAVLKWLK	KEHLVDMGIT
70	80	90	100	110	120
HGPAIQIEEL	FKELRKTAIE	DSIQTSKMGK	PSKNAPKDQT	VSQKERRETS	KQKQKGKENP
130	140	150	160	170	180
DMANPSAMST	TAKGSKSLKV	ELIEDKIDYT	KERQPSIDLT	CVSYPFDEFS	NPYRYKLDFS
190	200	210	220	230	240
LQPETGPGNL	IDPIHEFKAF	TNTATATEED	VKMKFSNEVF	RFASACMNSR	TNGTIHFGVK
250	260	270	280	290	300
DKPHGKIVGI	KVTNDTKEAL	INHFNLMINK	YFEDHQVQQA	KKCIREPRFV	EVLLPNSTLS
310	320	330	340	350	360
DRFVIEVDII	PQFSECQYDY	FQIKMQNYNN	KIWEQSKKFS	LFVRDGTSSK	DITKNKVDFR
370	380	390	400	410	420
AFKADFKTLA	ESRKAAEEKF	RAKTNKKERE	GPKLVKLLTG	NQDLLDNSYY	EQYILVTNKC
430	440	450	460	470	480
HPDQTKHLDF	LKEIKWFAVL	EFDPESNING	VVKAYKESRV	ANLHFPSVYV	EQKTTPNETI
490	500	510	520	530	540
STLNLYHQPS	WIFCNGRLDL	DSEKYKPFDP	SSWQRERASD	VRKLISFLTH	EDIMPRGKFL
550	560	570	580	590	600
VVFLLLSSVD	DPRDPLIETF	CAFYQDLKGM	ENILCICVHP	HIFQGWKDLL	EARLIKHQDE
610	620	630	640	650	660
ISSQCISALS	LEEINGTILK	LKSVTQSSKR	LLPSIGLSTV	LLKKEEDIMT	ALEIICENEC
670	680	690	700	710	720
EGTLLEKDKN	KFLEFKASKE	EDFYRGGKVS	WWNFYFSSES	YSSPFVKRDK	YERLEAMIQN
730	740	750	760	770	780
CADSSKPTST	KIIHLYHHPG	CGGTTLAMHI	LWELRKKFRC	AVLKNKTVDF	SEIGEQVTSL
790	800	810	820	830	840
ITYGAMNRQE	YVPVLLLVDD	FEEQDNVYLL	QYSIQTAIAK	KYIRYEKPLV	IILNCMRSQN
850	860	870	880	890	900
PEKSARIPDS	IAVIQQLSPK	EQRAFELKLK	EIKEQHKNFE	DFYSFMIMKT	NFNKEYIENV
910	920	930	940	950	960
VRNILKGQNI	FTKEAKLFSF	LALLNSYVPD	TTISLSQCEK	FLGIGNKKAF	WGTEKFEDKM
970	980	990	1000	1010	1020
GTYSTILIKT	EVIECGNYCG	VRIIHSLIAE	FSLEELKKSY	HLNKSQIMLD	MLTENLFFDT
1030	1040	1050	1060	1070	1080
GMGKSKFLQD	MHTLLLTRHR	DEHEGETGNW	FSPFIEALHK	DEGNEAVEAV	LLESIHRFNP
1090	1100	1110	1120	1130	1140
NAFICQALAR	HFYIKKKDFG	NALNWAKQAK	IIEPDNSYIS	DTLGQVYKSK	IRWWIEENGG
1150	1160	1170	1180	1190	1200
NGNISVDDLI	ALLDLAEHAS	SAFKESQQQS	EDREYEVKER	LYPKSKRRYD	TYNIAGYQGE
1210	1220	1230	1240	1250	1260
IEVGLYTIQI	LQLIPFFDNK	NELSKRYMVN	FVSGSSDIPG	DPNNEYKLAL	KNYIPYLTKL
1270	1280	1290	1300	1310	1320
KFSLKKSFDF	FDEYFVLLKP	RNNIKQNEEA	KTRRKVAGYF	KKYVDIFCLL	EESQNNTGLG
1330	1340	1350	1360	1370	1380
SKFSEPLQVE	RCRRNLVALK	ADKFSGLLEY	LIKSQEDAIS	TMKCIVNEYT	FLLEQCTVKI
1390	1400	1410	1420	1430	1440
QSKEKLNFIL	ANIILSCIQP	TSRLVKPVEK	LKDQLREVLQ	PIGLTYQFSE	PYFLASLLFW
1450	1460	1470	1480	1490	1500
PENQQLDQHS	EQMKEYAQAL	KNSFKGQYKH	MHRTKQPIAY	FFLGKGKRLE	RLVHKGKIDQ
1510	1520	1530	1540	1550	1560
CFKKTPDINS	LWQSGDVWKE	EKVQELLLRL	QGRAENNCLY	IEYGINEKIT	IPITPAFLGQ
1570	1580
LRSGRSIEKV	SFYLGFSIGG	PLAYDIEIV