AiPD: Autoinhibited Protein Database

P21860

Gene name	ERBB3 (HER3)
Protein name	Receptor tyrosine-protein kinase erbB-3
Names	EC 2.7.10.1 , Proto-oncogene-like protein c-ErbB-3 , Tyrosine kinase-type cell surface receptor HER3
Species	Homo sapiens (Human)
KEGG Pathway	hsa:2065
EC number	2.7.10.1: Protein-tyrosine kinases
Protein Class

Descriptions

Epidermal growth factor receptor plays critical roles in regulating cell proliferation, differentiation, and migration. The extracellular region of the EGF receptor contains four subdomains (domains I, II, III, and IV). Self-association of EGFR is autoinhibited by intramolecular interaction between domain II and IV, which sequesters the dimerization arm within domain II. Glycosylation of an Asn residue in domain IV induces autoinhibition while its mutation disrupts autoinhibition. Glycosylations of Asn residues within domain II reduce autoinhibition.

Autoinhibitory domains (AIDs)

476-611 (Domain IV) SS

Target domain	165-303 (Domain II)
Relief mechanism	Partner binding, PTM
Assay

AID

476-611 (Domain IV)

Target domain

165-303 (Domain II)

Relief mechanism

Partner binding (EGF binding to domain I), PTM (Deglycosylation of Asn residue within subdomain IV or glycosylation of Asn residues within domain II)

Assay

Accessory elements

No accessory elements

References

Zhang X et al. (2006) "An allosteric mechanism for activation of the kinase domain of epidermal growth factor receptor", Cell, 125, 1137-49

Ferguson KM et al. (2003) "EGF activates its receptor by removing interactions that autoinhibit ectodomain dimerization", Molecular cell, 11, 507-17

Whitson KB et al. (2005) "Functional effects of glycosylation at Asn-579 of the epidermal growth factor receptor", Biochemistry, 44, 14920-31

Contessa JN et al. (2008) "Inhibition of N-linked glycosylation disrupts receptor tyrosine kinase signaling in tumor cells", Cancer research, 68, 3803-9

Huang X et al. (2009) "Structural insights into the inhibited states of the Mer receptor tyrosine kinase", Journal of structural biology, 165, 88-96

Kovacs E et al. (2015) "Analysis of the Role of the C-Terminal Tail in the Regulation of the Epidermal Growth Factor Receptor", Molecular and cellular biology, 35, 3083-102

Autoinhibited structure

Activated structure

22 structures for P21860

Entry ID	Method	Resolution	Chain	Position	Source
1M6B	X-ray	260 A	A/B	20-640	PDB
2L9U	NMR	-	A/B	639-670	PDB
3KEX	X-ray	280 A	A/B	698-1019	PDB
3LMG	X-ray	280 A	A/B	684-1020	PDB
3P11	X-ray	370 A	A	20-532	PDB
4LEO	X-ray	264 A	C	20-631	PDB
4P59	X-ray	340 A	A	20-640	PDB
4RIW	X-ray	310 A	A/C	698-1020	PDB
4RIX	X-ray	310 A	A/C	698-1020	PDB
4RIY	X-ray	298 A	A/C	698-1020	PDB
5CUS	X-ray	320 A	A/B/C/D	20-641	PDB
5O4O	X-ray	340 A	C	1-643	PDB
5O7P	X-ray	450 A	C	1-643	PDB
6KBI	X-ray	300 A	A/B	20-639	PDB
6OP9	X-ray	250 A	A	674-1001	PDB
7BHE	X-ray	230 A	B/D	500-643	PDB
7BHF	X-ray	200 A	B/D	500-630	PDB
7D85	X-ray	250 A	A/D	328-519	PDB
7MN5	EM	293 A	A	1-1021	PDB
7MN6	EM	309 A	A	1-1021	PDB
7MN8	EM	345 A	A	1-1021	PDB
AF-P21860-F1	Predicted				AlphaFoldDB

3026 variants for P21860

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1057519893 RCV000443618 RCV000443705 RCV000424621 COSM1299642 RCV000421354 COSM1299641 RCV000432050 RCV000443475 CA16602848 RCV000436217 COSM160824 RCV000425620 COSM191840	104	V>L	Malignant neoplasm of body of uterus Uterine carcinosarcoma Neoplasm of uterine cervix Gastric adenocarcinoma Neoplasm of the large intestine Gallbladder carcinoma Breast neoplasm NS Variant assessed as Somatic; MODERATE impact. large_intestine urinary_tract [ClinVar, Cosmic, NCI-TCGA]	Yes	ClinGen NCI-TCGA Cosmic cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
RCV000440793 RCV000429939 VAR_042103 rs1057519893 RCV003332171 COSM20710 COSM1152549 RCV000430165 CA16602847 RCV000441492 COSM172423 RCV000422734 RCV000434002 RCV000418579 RCV000424151	104	V>M	Malignant neoplasm of body of uterus Variant assessed as Somatic; MODERATE impact. Neoplasm of uterine cervix urinary_tract endometrium Gastric adenocarcinoma Malignant tumor of urinary bladder Uterine carcinosarcoma ovary large_intestine Neoplasm of the large intestine Breast neoplasm Gallbladder carcinoma an ovarian mucinous carcinoma sample; somatic mutation [ClinVar, NCI-TCGA, Cosmic, UniProt]	Yes	ClinGen NCI-TCGA Cosmic cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP
COSM1935385 RCV000424878 COSM1935386 CA16602645 rs1057519817	262	P>H	Neoplasm Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA]	Yes	ClinGen NCI-TCGA Cosmic ClinVar NCI-TCGA dbSNP gnomAD
RCV000430351 rs1057519803 CA16602624 COSM48360 COSM941488 RCV000440625	284	G>R	lung Variant assessed as Somatic; MODERATE impact. large_intestine Neoplasm of stomach endometrium Colonic neoplasm breast [Cosmic, NCI-TCGA, ClinVar]	Yes	cosmic curated Ensembl ClinGen NCI-TCGA Cosmic ClinVar NCI-TCGA dbSNP
COSM941489 CA16602846 RCV000435185 RCV000424484 RCV000429499 COSM1586604 RCV000435793 rs1057519891 RCV000418815	297	D>N	Malignant neoplasm of body of uterus Uterine carcinosarcoma Variant assessed as Somatic; MODERATE impact. endometrium Gastric adenocarcinoma Breast neoplasm [ClinVar, NCI-TCGA, Cosmic]	Yes	ClinGen NCI-TCGA Cosmic cosmic curated ClinVar NCI-TCGA dbSNP gnomAD
CA16602845 rs1057519892 RCV000434468 COSM941490 RCV000442973 RCV000427382 RCV000441987 COSM1586603 RCV000435426	297	D>V	Malignant neoplasm of body of uterus Uterine carcinosarcoma Variant assessed as Somatic; MODERATE impact. endometrium Gastric adenocarcinoma Breast neoplasm [ClinVar, NCI-TCGA, Cosmic]	Yes	ClinGen NCI-TCGA Cosmic cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
rs1057519891 CA16602844 COSM1299647 RCV000424195 RCV000433369 RCV000443967 RCV000423102 RCV000440744 COSM160822	297	D>Y	Malignant neoplasm of body of uterus Uterine carcinosarcoma Variant assessed as Somatic; MODERATE impact. endometrium urinary_tract Gastric adenocarcinoma breast Breast neoplasm [ClinVar, NCI-TCGA, Cosmic]	Yes	ClinGen NCI-TCGA Cosmic cosmic curated ClinVar NCI-TCGA dbSNP gnomAD
rs141230043 RCV001257435	418	I>T	Lethal congenital contracture syndrome 2 [ClinVar]	Yes	ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1229151494 RCV003161039 RCV001508692	703	I>L	Inborn genetic diseases [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
RCV003166073 RCV000784951 rs760414488	747	K>N	Lethal congenital contracture syndrome 2 Inborn genetic diseases [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs2136818517 VAR_086108 RCV001799811	787	T>P	Visceral neuropathy, familial, 1, autosomal recessive VSCN1; almost complete loss of ERBB2 and ERBB3 phosphorylation in the presence or in the absence of NRG1 stimulation, suggesting alteration of downstream signaling; does not affect the subcellular localization at the cell membrane [ClinVar, UniProt]	Yes	ClinVar Ensembl dbSNP UniProt
rs931676601 RCV000435577 CA16602646	809	Q>R	Neoplasm Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar Ensembl NCI-TCGA dbSNP
VAR_086109	873	T>S	VSCN1; uncertain significance; some decrease in ERBB2 phosphorylation upon NG1 treatment, compared to wild-type; does not affect the subcellular localization at the cell membrane [UniProt]	Yes	UniProt
VAR_086110 rs2136822199 RCV001799812	899	V>M	Visceral neuropathy, familial, 1, autosomal recessive VSCN1; almost complete loss of ERBB2 and ERBB3 phosphorylation in the presence or in the absence of NRG1 stimulation, suggesting alteration of downstream signaling; does not affect the subcellular localization at the cell membrane [ClinVar, UniProt]	Yes	ClinVar Ensembl dbSNP UniProt
VAR_086111 rs762765641	932	Q>R	VSCN1; uncertain significance; some decrease in ERBB2 phosphorylation upon NG1 treatment, compared to wild-type; does not affect the subcellular localization at the cell membrane [UniProt]	Yes	ExAC gnomAD UniProt
CA174403 RCV000149124 rs193920754 COSM1178589	934	Q>H	Malignant tumor of prostate prostate [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV001799810 rs1869082532	1100	H>missing	Visceral neuropathy, familial, 1, autosomal recessive [ClinVar]	Yes	ClinVar dbSNP
rs1592232580 RCV003145245 RCV000985171	1142	P>L	Lethal congenital contracture syndrome 2 [ClinVar]	Yes	ClinVar Ensembl dbSNP
CA6623007 RCV000626162 rs780883720	1191	E>missing	Lethal congenital contracture syndrome 1 [ClinVar]	Yes	ClinGen ClinVar dbSNP
CA6623076 VAR_081641 rs755855285 RCV003323478 RCV000239667	1337	A>T	Erythroleukemia, familial, susceptibility to FERLK; risk factor for erythroleukemia; results in increased ERBB-mediated signaling; results in a block of erythroid differentiation and increased cell proliferation [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
rs1410872951	2	R>G		No	TOPMed gnomAD
rs1448565511	2	R>K		No	gnomAD
rs1868337458	3	A>G		No	TOPMed
rs1868337425	3	A>T		No	Ensembl
rs1868337487	5	D>N		No	TOPMed
rs757100419	6	A>T		No	ExAC TOPMed gnomAD
rs1432269330	6	A>V		No	TOPMed gnomAD
rs1173594365	7	L>P		No	gnomAD
rs2136781330	8	Q>E		No	Ensembl
rs1868337663	8	Q>P		No	Ensembl
rs1868337744	9	V>G		No	TOPMed
rs933549006	9	V>L		No	TOPMed gnomAD
rs933549006	9	V>M		No	TOPMed gnomAD
rs767359947	10	L>M		No	ExAC TOPMed gnomAD
rs1287546945	11	G>D		No	gnomAD
rs1868337864	11	G>S		No	gnomAD
rs1287546945	11	G>V		No	gnomAD
rs1441975473	15	S>N		No	gnomAD
rs755757062	17	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs1233610855	17	A>V		No	gnomAD
rs1317504479 TCGA novel	18	R>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1317504479	18	R>Q		No	TOPMed gnomAD
rs748811895	19	G>S		No	ExAC gnomAD
rs34379766	20	S>F		No	ExAC TOPMed gnomAD
rs2136781481	20	S>P		No	Ensembl
VAR_042101 rs34379766	20	S>Y		No	UniProt ExAC TOPMed dbSNP gnomAD
rs778250041	21	E>K		No	ExAC TOPMed gnomAD
rs778250041	21	E>Q		No	ExAC TOPMed gnomAD
rs1868338618	22	V>E		No	gnomAD
rs1171426421	22	V>M		No	TOPMed gnomAD
rs1868338709	23	G>D		No	gnomAD
rs1868338662	23	G>R		No	gnomAD
rs1868338662	23	G>S		No	gnomAD
rs1408056133	24	N>K		No	gnomAD
rs1868338819	26	Q>E		No	gnomAD
rs771442726	27	A>T		No	ExAC gnomAD
rs757712749	29	C>R		No	ExAC gnomAD
VAR_042102 rs56017157 RCV000994933	30	P>L		No	ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1868388166	30	P>T		No	Ensembl
rs2136785629	32	T>I		No	Ensembl
rs2136785639	33	L>P		No	Ensembl
rs1868388612	35	G>V		No	TOPMed
rs2136785661	36	L>P		No	Ensembl
rs2136785664	38	V>M		No	Ensembl
rs750029748	39	T>A		No	Ensembl
rs2136785684	39	T>I		No	Ensembl
rs2136785684	39	T>N		No	Ensembl
rs774536437 COSM1147067	40	G>S	lung [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs2136785705	41	D>G		No	Ensembl
rs374953448 COSM366116	41	D>N	lung [Cosmic]	No	cosmic curated ESP ExAC TOPMed gnomAD
rs2136785713	42	A>G		No	Ensembl
rs760515344	42	A>T		No	ExAC gnomAD
rs2136785713	42	A>V		No	Ensembl
rs766147426	43	E>K		No	ExAC gnomAD
rs2136785734	45	Q>*		No	Ensembl
TCGA novel	45	Q>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1376142104	47	Q>H		No	gnomAD
rs759044259	48	T>I		No	ExAC gnomAD
rs1243750809	50	Y>*		No	gnomAD
rs1485348787	52	L>P		No	TOPMed gnomAD
rs752180033	53	Y>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs757941835	54	E>K		No	ExAC TOPMed gnomAD
TCGA novel	54	E>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs781661153	55	R>G		No	ExAC TOPMed gnomAD
rs781661153	55	R>W		No	ExAC TOPMed gnomAD
rs750947241	58	V>M		No	ExAC TOPMed gnomAD
rs780212356	59	V>L		No	ExAC gnomAD
rs780212356	59	V>M		No	ExAC gnomAD
COSM1251422 COSM1205578 rs2136785847 COSM254678	60	M>K	Variant assessed as Somatic; MODERATE impact. oesophagus large_intestine urinary_tract [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl
COSM1606367 rs2136785841 COSM1606366 COSM1606368	60	M>L	liver [Cosmic]	No	cosmic curated Ensembl
COSM1586594 rs2136785847 COSM941484 COSM1586593	60	M>R	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs2136785862	61	G>E		No	Ensembl
rs749691155	61	G>R		No	ExAC TOPMed gnomAD
rs2136785872	62	N>I		No	Ensembl
rs779330902	65	I>T		No	ExAC TOPMed gnomAD
rs1412388502	67	L>F		No	TOPMed gnomAD
COSM5739686 COSM5739685 COSM5739684 rs142735651	68	T>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD
rs1167721144	69	G>A		No	TOPMed
rs1167721144	69	G>E		No	TOPMed
rs773189933	70	H>Q		No	ExAC gnomAD
rs2136785928	70	H>Y		No	Ensembl
rs1868391847	71	N>K		No	Ensembl
rs570614098	72	A>D		No	1000Genomes ExAC gnomAD
rs570614098	72	A>G		No	1000Genomes ExAC gnomAD
rs1175477384	72	A>T		No	gnomAD
rs570614098	72	A>V		No	1000Genomes ExAC gnomAD
rs1375009143	73	D>A		No	TOPMed
rs1375009143	73	D>G		No	TOPMed
rs143770796	73	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs1375009143	73	D>V		No	TOPMed
rs143770796	73	D>Y		No	ESP ExAC TOPMed gnomAD
RCV000722675 rs1565855722	74	L>R		No	ClinVar Ensembl dbSNP
rs1432507933	75	S>A		No	gnomAD
rs1868392703	75	S>F		No	Ensembl
rs1296350995	77	L>P		No	gnomAD
rs1868392967	78	Q>H		No	TOPMed
rs1262966386	79	W>*		No	gnomAD
rs1262966386	79	W>C		No	gnomAD
rs891498670	79	W>R		No	Ensembl
rs2136787723	79	W>S		No	Ensembl
rs1327568207	80	I>F		No	gnomAD
rs2136787752	80	I>N		No	Ensembl
rs2136787752	80	I>S		No	Ensembl
rs1327568207	80	I>V		No	gnomAD
rs1011342233	81	R>*		No	TOPMed gnomAD
rs1011342233	81	R>G		No	TOPMed gnomAD
rs1324972550	81	R>P		No	TOPMed
rs1324972550	81	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed
rs1324107019	82	E>D		No	Ensembl
rs2136787796	82	E>K		No	Ensembl
rs2136787796	82	E>Q		No	Ensembl
rs2136787806	82	E>V		No	Ensembl
rs748439445	83	V>L		No	ExAC gnomAD
rs748439445	83	V>M		No	ExAC gnomAD
rs1425922004	84	T>I		No	TOPMed gnomAD
COSM5986902 COSM5986900 rs1425922004 COSM5986901	84	T>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic TOPMed gnomAD
rs2136787834	84	T>P		No	Ensembl
rs1425922004	84	T>R		No	TOPMed gnomAD
rs2136787834	84	T>S		No	Ensembl
rs777650340	85	G>A		No	ExAC gnomAD
rs2136787850	85	G>C		No	Ensembl
rs777650340	85	G>D		No	ExAC gnomAD
rs2136787850	85	G>R		No	Ensembl
rs2136787879	86	Y>F		No	Ensembl
rs1266821399	86	Y>H		No	gnomAD
rs1266821399	86	Y>N		No	gnomAD
rs2136787879	86	Y>S		No	Ensembl
rs2136787902	87	V>D		No	Ensembl
rs2136787897	87	V>F		No	Ensembl
rs2136787902	87	V>G		No	Ensembl
rs2136787897	87	V>L		No	Ensembl
rs2136787918	88	L>F		No	Ensembl
rs2136787918	88	L>I		No	Ensembl
rs1182472176	88	L>P		No	gnomAD
rs2136787918	88	L>V		No	Ensembl
rs77228285	89	V>L		No	ExAC TOPMed gnomAD
rs77228285	89	V>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1868429192	90	A>D		No	TOPMed gnomAD
rs1868429192	90	A>G		No	TOPMed gnomAD
rs759321206	90	A>P		No	ExAC gnomAD
rs759321206	90	A>S		No	ExAC gnomAD
TCGA novel rs759321206	90	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA ExAC gnomAD
rs1868429192	90	A>V		No	TOPMed gnomAD
COSM1299637 COSM1299640 rs1868429409 COSM122890 COSM1299639 COSM1299638 COSM1299636	91	M>I	upper_aerodigestive_tract Variant assessed as Somatic; MODERATE impact. urinary_tract [Cosmic, NCI-TCGA]	No	cosmic curated Ensembl NCI-TCGA Cosmic
rs2136788000	91	M>K		No	Ensembl
rs1868429295	91	M>L		No	gnomAD
rs2136788000	91	M>T		No	Ensembl
rs1868429295	91	M>V		No	gnomAD
rs2136788028	92	N>I		No	Ensembl
rs2136788034	92	N>K		No	Ensembl
rs2136788023	92	N>Y		No	Ensembl
rs2136788040	93	E>*		No	Ensembl
rs2136788047	93	E>A		No	Ensembl
rs2136788054	93	E>D		No	Ensembl
rs2136788047	93	E>G		No	Ensembl
rs2136788040	93	E>K		No	Ensembl
rs2136788040	93	E>Q		No	Ensembl
rs2136788047	93	E>V		No	Ensembl
rs769634421	94	F>I		No	ExAC TOPMed gnomAD
COSM1476731 COSM431475 COSM1476730 rs762522193	94	F>L	Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC gnomAD
rs769634421	94	F>V		No	ExAC TOPMed gnomAD
rs1868429995	95	S>F		No	TOPMed
rs200856864	96	T>A		No	1000Genomes ExAC gnomAD
rs1565856179	96	T>I		No	Ensembl
rs200856864	96	T>P		No	1000Genomes ExAC gnomAD
rs200856864	96	T>S		No	1000Genomes ExAC gnomAD
rs1565856179	96	T>S		No	Ensembl
rs1868430306	97	L>I		No	Ensembl
rs1391425493	97	L>P		No	gnomAD
rs1868430306	97	L>V		No	Ensembl
rs2136788124	98	P>A		No	Ensembl
rs2136788133	98	P>Q		No	Ensembl
rs2136788133	98	P>R		No	Ensembl
rs2136788124	98	P>S		No	Ensembl
rs1228307248	99	L>*		No	gnomAD
rs1228307248	99	L>S		No	gnomAD
rs2136788171	100	P>A		No	Ensembl
rs2136788171	100	P>S		No	Ensembl
rs2136788171	100	P>T		No	Ensembl
rs2136788188	101	N>H		No	Ensembl
rs201479792	101	N>I		No	ExAC TOPMed gnomAD
COSM1236237 COSM1236236 rs755384403 COSM1236238	101	N>K	Variant assessed as Somatic; MODERATE impact. autonomic_ganglia [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC TOPMed gnomAD
rs201479792	101	N>S		No	ExAC TOPMed gnomAD
rs201479792	101	N>T		No	ExAC TOPMed gnomAD
rs2136788188	101	N>Y		No	Ensembl
rs765639633	102	L>F		No	ExAC gnomAD
rs2136788215	102	L>H		No	Ensembl
rs765639633	102	L>I		No	ExAC gnomAD
rs2136788215	102	L>P		No	Ensembl
rs765639633	102	L>V		No	ExAC gnomAD
rs146486757	103	R>C		No	ESP ExAC TOPMed gnomAD
rs146486757	103	R>G		No	ESP ExAC TOPMed gnomAD
COSM191839 rs778104039	103	R>H	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs778104039	103	R>L		No	ExAC TOPMed gnomAD
rs778104039	103	R>P		No	ExAC TOPMed gnomAD
rs146486757	103	R>S		No	ESP ExAC TOPMed gnomAD
rs984896	105	V>E		No	Ensembl
rs984896	105	V>G		No	Ensembl
rs2136788259	105	V>L		No	Ensembl
rs2136788259	105	V>M		No	Ensembl
rs757425458	106	R>*		No	ExAC TOPMed gnomAD
rs757425458	106	R>G		No	ExAC TOPMed gnomAD
rs780976894	106	R>L		No	ExAC TOPMed gnomAD
rs780976894	106	R>Q		No	ExAC TOPMed gnomAD
rs1418372214	107	G>E		No	gnomAD
rs2136788294	107	G>R		No	Ensembl
rs1476037377	108	T>A		No	TOPMed gnomAD
rs2136788311	108	T>N		No	Ensembl
rs2136788311	108	T>S		No	Ensembl
rs2136788321	109	Q>*		No	Ensembl
rs2136788321	109	Q>E		No	Ensembl
rs1313980887	109	Q>H		No	TOPMed gnomAD
rs2136788326	109	Q>L		No	Ensembl
rs2136788326	109	Q>R		No	Ensembl
rs2136788338	110	V>D		No	Ensembl
rs2136788338	110	V>G		No	Ensembl
rs1162297781	110	V>I		No	gnomAD
rs745744610	111	Y>*		No	ExAC TOPMed gnomAD
rs2136788351	111	Y>C		No	Ensembl
rs2136788351	111	Y>F		No	Ensembl
rs2136788345	111	Y>N		No	Ensembl
rs2136788351	111	Y>S		No	Ensembl
rs769723853	112	D>G		No	ExAC TOPMed gnomAD
rs1462065910	112	D>H		No	gnomAD
rs1462065910	112	D>N		No	gnomAD
TCGA novel	112	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2136788381	113	G>E		No	Ensembl
rs375644422	113	G>R		No	ESP TOPMed gnomAD
COSM4911937 COSM4911936 COSM4911938	114	K>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2136788393	115	F>I		No	Ensembl
rs2136788398	115	F>L		No	Ensembl
rs2136788402	116	A>D		No	Ensembl
rs2136788402	116	A>G		No	Ensembl
rs1868433310	116	A>S		No	TOPMed
rs1868433310	116	A>T		No	TOPMed
rs2136788402	116	A>V		No	Ensembl
rs2136788415	117	I>F		No	Ensembl
rs2136788421	117	I>M		No	Ensembl
rs2136788427	118	F>I		No	Ensembl
rs775223707	118	F>L		No	ExAC TOPMed gnomAD
rs2136788427	118	F>L		No	Ensembl
rs2136788432	118	F>S		No	Ensembl
rs2136788444	119	V>D		No	Ensembl
COSM1935376 COSM1935374 rs759113437 COSM1935375	119	V>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
rs759113437	119	V>L		No	TOPMed gnomAD
rs1868433776	120	M>I		No	TOPMed
rs749101304	120	M>K		No	ExAC TOPMed gnomAD
rs749101304	120	M>T		No	ExAC TOPMed gnomAD
rs2136788473	121	L>M		No	Ensembl
rs2136788481	122	N>D		No	Ensembl
rs1868434125	123	Y>*		No	gnomAD
COSM1628708 COSM1628709 COSM1628707 rs768175062	123	Y>C	liver [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs2136788488	123	Y>H		No	Ensembl
rs2136788488	123	Y>N		No	Ensembl
rs2136788506	124	N>H		No	Ensembl
rs2136788510	124	N>K		No	Ensembl
rs2136788519	125	T>N		No	Ensembl
rs2136788517	125	T>P		No	Ensembl
COSM270926	126	N>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2136788532	126	N>T		No	Ensembl
rs1308361325	127	S>P		No	gnomAD
COSM4043436 rs2136788557 COSM4043435 COSM4043437	128	S>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs2136788562	128	S>R		No	Ensembl
rs2136788557	128	S>T		No	Ensembl
rs2136788571	129	H>L		No	Ensembl
rs2136788571	129	H>P		No	Ensembl
rs774095251	129	H>Q		No	ExAC TOPMed gnomAD
rs2136788585	130	A>D		No	Ensembl
rs1227791872	130	A>S		No	gnomAD
rs1227791872	130	A>T		No	gnomAD
rs2136788597	131	L>P		No	Ensembl
rs569206705	132	R>C		No	1000Genomes ExAC TOPMed gnomAD
rs569206705	132	R>G		No	1000Genomes ExAC TOPMed gnomAD
rs984193019	132	R>H		No	TOPMed gnomAD
rs2136788618	133	Q>*		No	Ensembl
rs540018426	133	Q>L		No	gnomAD
rs540018426	133	Q>P		No	gnomAD
rs772863490	134	L>F		No	ExAC gnomAD
rs760053751 COSM1747133 COSM254681 COSM1747132	135	R>C	urinary_tract [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs765878149	135	R>H		No	ExAC TOPMed gnomAD
rs765878149	135	R>P		No	ExAC TOPMed gnomAD
rs1255206191	136	L>S		No	TOPMed gnomAD
rs2136788666	137	T>N		No	Ensembl
rs2136788659	137	T>P		No	Ensembl
rs2136788659	137	T>S		No	Ensembl
rs369698449	138	Q>H		No	ESP ExAC gnomAD
COSM3812525 COSM3812526 COSM3812524 rs1044978284	138	Q>L	Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
rs1044978284	138	Q>P		No	TOPMed gnomAD
rs1044978284	138	Q>R		No	TOPMed gnomAD
rs2136788696	139	L>F		No	Ensembl
rs2136788714	140	T>I		No	Ensembl
rs2136788714	140	T>N		No	Ensembl
rs2136788710	140	T>P		No	Ensembl
rs2136788710	140	T>S		No	Ensembl
rs764216267	141	E>K		No	ExAC TOPMed gnomAD
rs2136791353	142	I>T		No	Ensembl
rs2136791382	145	G>A		No	Ensembl
rs892530465	145	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	Ensembl NCI-TCGA
rs2136791382	145	G>V		No	Ensembl
rs374619740	146	G>A		No	ESP ExAC TOPMed gnomAD
rs746368473	146	G>C		No	Ensembl
rs374619740	146	G>D		No	ESP ExAC TOPMed gnomAD
rs746368473	146	G>S		No	Ensembl
rs748544096	149	I>T		No	ExAC TOPMed gnomAD
COSM1747134 COSM254675	150	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs147412657	152	N>K		No	1000Genomes ExAC TOPMed gnomAD
rs147905731	153	D>N		No	ESP TOPMed gnomAD
rs1285610262	153	D>V		No	gnomAD
rs1868494009	154	K>E		No	TOPMed
rs2136791415	156	C>S		No	Ensembl
rs141700623	157	H>Y		No	ESP ExAC TOPMed gnomAD
rs925749656	158	M>I		No	TOPMed gnomAD
rs1273702050	159	D>E		No	TOPMed gnomAD
rs2136791434	159	D>H		No	Ensembl
rs2136791434	159	D>N		No	Ensembl
rs2136791446	160	T>K		No	Ensembl
rs1868494790	161	I>T		No	TOPMed gnomAD
rs188795493	161	I>V		No	1000Genomes ExAC TOPMed gnomAD
rs2136791480	162	D>E		No	Ensembl
rs759585997	162	D>N		No	ExAC TOPMed gnomAD
rs2136791471	162	D>V		No	Ensembl
rs2136791485	163	W>*		No	Ensembl
rs560422339	164	R>K		No	1000Genomes ExAC TOPMed gnomAD
rs2136791491	165	D>N		No	Ensembl
rs879027206	166	I>M		No	TOPMed gnomAD
rs374643843	166	I>V		No	ExAC TOPMed gnomAD
rs2136791519	167	V>E		No	Ensembl
rs758421385	167	V>L		No	ExAC TOPMed gnomAD
rs758421385	167	V>M		No	ExAC TOPMed gnomAD
rs1434615533	169	D>E		No	Ensembl
rs751430378	170	R>*		No	ExAC TOPMed gnomAD
rs751430378	170	R>G		No	ExAC TOPMed gnomAD
rs200978269	170	R>Q		No	1000Genomes ESP ExAC TOPMed gnomAD
COSM1705798 COSM1705797	171	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs780753707	172	A>S		No	ExAC gnomAD
rs2136791551	173	E>D		No	Ensembl
rs986135420	173	E>K		No	TOPMed gnomAD
rs986135420	173	E>Q		No	TOPMed gnomAD
rs1018139675	174	I>M		No	Ensembl
rs562044145	174	I>T		No	gnomAD
rs745349643	175	V>G		No	ExAC gnomAD
rs1592226146	176	V>M		No	Ensembl
rs1446901933	177	K>E		No	TOPMed gnomAD
rs2136791591	177	K>M		No	Ensembl
RCV001508691 rs1297817731	178	D>N		No	ClinVar dbSNP gnomAD
rs1297817731	178	D>Y		No	gnomAD
rs1225468997	180	G>D		No	gnomAD
rs755643469	180	G>R		No	ExAC gnomAD
rs371016430	181	R>K		No	ESP ExAC gnomAD
rs2136791614	182	S>N		No	Ensembl
rs368392747	183	C>F		No	ESP ExAC TOPMed
rs1868526948	184	P>L		No	TOPMed
rs764505233	184	P>S		No	ExAC gnomAD
rs764505233	184	P>T		No	ExAC gnomAD
rs779368926	185	P>L		No	ExAC TOPMed gnomAD
rs779368926	185	P>R		No	ExAC TOPMed gnomAD
rs1253762593	185	P>T		No	gnomAD
rs748832619	186	C>G		No	ExAC gnomAD
TCGA novel	186	C>L	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1375799004	186	C>Y		No	gnomAD
rs1477646903	187	H>L		No	gnomAD
rs1477646903	187	H>R		No	gnomAD
rs1868528050	188	E>K		No	Ensembl
rs1159711264	189	V>G		No	gnomAD
rs1868528302	190	C>Y		No	Ensembl
rs1455358872	191	K>E		No	TOPMed gnomAD
rs1868528550	191	K>N		No	TOPMed gnomAD
rs1455358872	191	K>Q		No	TOPMed gnomAD
rs1319409039	192	G>R		No	TOPMed gnomAD
rs1868528771	192	G>V		No	TOPMed
rs1592226561 COSM1677074 COSM1677073	193	R>*	haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated Ensembl
rs1592226561	193	R>G		No	Ensembl
rs561743080	193	R>Q		No	1000Genomes ExAC TOPMed gnomAD
rs2136793144	194	C>Y		No	Ensembl
rs1868529255	195	W>R		No	Ensembl
rs1565857178	196	G>S		No	Ensembl
rs150454821	198	G>E		No	ESP TOPMed gnomAD
rs2136793167	198	G>R		No	Ensembl
rs150454821	198	G>V		No	ESP TOPMed gnomAD
rs771269574	200	E>G		No	ExAC TOPMed gnomAD
rs146860437	200	E>K		No	Ensembl
rs2136793187	202	C>S		No	Ensembl
rs56107455 VAR_042104	204	T>I		No	UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs2136793750	206	T>I		No	Ensembl
rs2136793750	206	T>S		No	Ensembl
rs2136793736	206	T>S		No	Ensembl
rs752120492	207	K>M		No	ExAC gnomAD
rs1868536643	207	K>N		No	Ensembl
rs752120492	207	K>R		No	ExAC gnomAD
rs757785908	208	T>I		No	ExAC gnomAD
rs1868536733	208	T>P		No	gnomAD
rs757785908	208	T>S		No	ExAC gnomAD
rs1868536733	208	T>S		No	gnomAD
rs2136793810	209	I>F		No	Ensembl
rs2136793821	209	I>M		No	Ensembl
rs2136793814	209	I>T		No	Ensembl
rs2136793837	210	C>*		No	Ensembl
rs2136793826	210	C>S		No	Ensembl
rs2136793837	210	C>W		No	Ensembl
rs2136793826	210	C>Y		No	Ensembl
rs2136793847	211	A>D		No	Ensembl
rs2136793847	211	A>G		No	Ensembl
rs1217485820	211	A>P		No	TOPMed
rs1217485820	211	A>T		No	TOPMed
rs2136793847	211	A>V		No	Ensembl
rs1176464861	212	P>H		No	TOPMed gnomAD
rs1176464861	212	P>L		No	TOPMed gnomAD
rs1176464861	212	P>R		No	TOPMed gnomAD
rs1481957883	212	P>S		No	gnomAD
rs2136793879	213	Q>*		No	Ensembl
rs2136793879	213	Q>E		No	Ensembl
rs2136793879	213	Q>K		No	Ensembl
rs2136793890	213	Q>L		No	Ensembl
rs1868537271	214	C>R		No	gnomAD
rs1868537271	214	C>S		No	gnomAD
rs2136793901	214	C>S		No	1000Genomes
rs2136793901	214	C>Y		No	1000Genomes
rs2136793908	215	N>D		No	Ensembl
rs1256589883	215	N>I		No	gnomAD
rs1256589883	215	N>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs2136793908	215	N>Y		No	Ensembl
COSM212332 rs1425230396	216	G>A	Variant assessed as Somatic; MODERATE impact. endometrium breast [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated gnomAD
rs1425230396	216	G>D		No	gnomAD
rs2136793919	216	G>R		No	Ensembl
rs2136793919	216	G>S		No	Ensembl
rs2136793939	217	H>D		No	Ensembl
rs2136793945	217	H>L		No	Ensembl
rs2136793945	217	H>P		No	Ensembl
rs2136793952	217	H>Q		No	Ensembl
rs2136793939	217	H>Y		No	Ensembl
rs2136793960	218	C>*		No	Ensembl
rs2136793960	218	C>W		No	Ensembl
COSM5734262 COSM5734263 COSM4823304 COSM4823303	219	F>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1184933541	219	F>S		No	gnomAD
rs2136793968	219	F>V		No	Ensembl
rs1291536969	220	G>A		No	Ensembl
rs1291536969	220	G>E		No	Ensembl
rs1459617654	220	G>R		No	TOPMed gnomAD
rs1291536969	220	G>V		No	Ensembl
rs1459617654	220	G>W		No	TOPMed gnomAD
rs2136793999	221	P>A		No	Ensembl
rs1429784531	221	P>H		No	gnomAD
COSM1362993 rs1429784531 COSM1362994	221	P>L	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	cosmic curated NCI-TCGA gnomAD
rs1429784531	221	P>R		No	gnomAD
rs2136793999	221	P>S		No	Ensembl
rs2136793999	221	P>T		No	Ensembl
rs2136794023	222	N>H		No	Ensembl
rs767977511	222	N>I		No	ExAC gnomAD
rs769880860	222	N>K		No	ExAC gnomAD
rs767977511	222	N>S		No	ExAC gnomAD
rs767977511	222	N>T		No	ExAC gnomAD
rs2136794023	222	N>Y		No	Ensembl
rs1429664791	223	P>A		No	gnomAD
rs2136794053	223	P>H		No	Ensembl
rs2136794053	223	P>L		No	Ensembl
rs2136794053	223	P>R		No	Ensembl
rs1429664791	223	P>S		No	gnomAD
rs1429664791	223	P>T		No	gnomAD
rs549747369	224	N>D		No	1000Genomes ExAC gnomAD
rs549747369	224	N>H		No	1000Genomes ExAC gnomAD
rs1381763988	224	N>K		No	TOPMed gnomAD
rs1326827087	224	N>S		No	gnomAD
rs549747369	224	N>Y		No	1000Genomes ExAC gnomAD
rs2136794077	225	Q>*		No	Ensembl
rs2136794077	225	Q>E		No	Ensembl
rs749372152	225	Q>H		No	ExAC gnomAD
rs2136794084	225	Q>L		No	Ensembl
rs2136794108	226	C>*		No	Ensembl
rs768913280	226	C>F		No	ExAC gnomAD
rs2136794092	226	C>G		No	Ensembl
rs2136794092	226	C>R		No	Ensembl
rs2136794092	226	C>S		No	Ensembl
rs768913280	226	C>S		No	ExAC gnomAD
rs2136794108	226	C>W		No	Ensembl
rs768913280	226	C>Y		No	ExAC gnomAD
rs2136794134	227	C>*		No	Ensembl
rs2136794123	227	C>F		No	Ensembl
rs2136794118	227	C>S		No	Ensembl
rs2136794123	227	C>S		No	Ensembl
rs2136794134	227	C>W		No	Ensembl
rs2136794123	227	C>Y		No	Ensembl
rs2136794144	228	H>D		No	Ensembl
rs774589520	228	H>L		No	ExAC gnomAD
rs2136794157 COSM1299644 COSM1299643	228	H>Q	Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl
COSM4043438 COSM4043439 rs774589520	228	H>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD
rs2136794144	228	H>Y		No	Ensembl
rs2136794174	229	D>E		No	Ensembl
rs201079200	229	D>H		No	1000Genomes ExAC gnomAD
rs201079200	229	D>N		No	1000Genomes ExAC gnomAD
rs2136794167	229	D>V		No	Ensembl
rs2136794183	230	E>D		No	Ensembl
rs772081729	230	E>G		No	ExAC gnomAD
rs772081729	230	E>V		No	ExAC gnomAD
rs2136794209	231	C>*		No	Ensembl
rs376656358	231	C>G		No	ESP ExAC TOPMed gnomAD
rs376656358	231	C>S		No	ESP ExAC TOPMed gnomAD
rs2136794199	231	C>S		No	Ensembl
rs2136794209	231	C>W		No	Ensembl
rs2136794199	231	C>Y		No	Ensembl
rs2136794227	232	A>D		No	Ensembl
rs2136794227	232	A>G		No	Ensembl
rs140656187	232	A>P		No	ExAC gnomAD
rs140656187	232	A>S		No	ExAC gnomAD
COSM4043440 rs140656187 COSM4043441	232	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD
COSM1242239 rs2136794227 COSM1242240	232	A>V	Variant assessed as Somatic; MODERATE impact. oesophagus prostate [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs1868539794	233	G>*		No	Ensembl
rs1868540006	233	G>A		No	TOPMed
rs1868540006	233	G>E		No	TOPMed
rs753556193	233	G>R		No	ExAC TOPMed gnomAD
rs1868540006	233	G>V		No	TOPMed
rs753556193	233	G>W		No	ExAC TOPMed gnomAD
rs1242075075	234	G>A		No	gnomAD
rs2136794268	234	G>C		No	Ensembl
rs1242075075	234	G>D		No	gnomAD
rs2136794268	234	G>R		No	Ensembl
rs2136794290	235	C>S		No	Ensembl
rs2136794296	235	C>W		No	Ensembl
rs2136794308	236	S>*		No	Ensembl
rs2136794308	236	S>L		No	Ensembl
COSM1299645 rs2136794300 COSM1299646	236	S>P	Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs2136794300	236	S>T		No	Ensembl
rs2136794320	237	G>A		No	Ensembl
rs2136794313	237	G>C		No	Ensembl
rs2136794320	237	G>D		No	Ensembl
rs2136794313	237	G>R		No	Ensembl
rs2136794313	237	G>S		No	Ensembl
rs1868540297	238	P>A		No	TOPMed
rs966904541	238	P>H		No	TOPMed gnomAD
rs966904541	238	P>L		No	TOPMed gnomAD
COSM1705800 rs1868540297 COSM1705799	238	P>S	skin [Cosmic]	No	cosmic curated TOPMed
rs2136794353	239	Q>*		No	Ensembl
rs2136794353	239	Q>E		No	Ensembl
rs2136794366	239	Q>H		No	Ensembl
rs2136794353	239	Q>K		No	Ensembl
rs2136794359	239	Q>L		No	Ensembl
rs2136794359	239	Q>P		No	Ensembl
rs2136794359	239	Q>R		No	Ensembl
rs1450683823	240	D>E		No	TOPMed gnomAD
rs2136794373	240	D>H		No	Ensembl
rs2136794373	240	D>N		No	Ensembl
rs1190013908	241	T>I		No	gnomAD
rs1449563595	241	T>P		No	gnomAD
rs1190013908	241	T>R		No	gnomAD
rs1449563595	241	T>S		No	gnomAD
rs2136794411	242	D>A		No	Ensembl
rs2136794423	242	D>E		No	Ensembl
rs2136794411	242	D>G		No	Ensembl
rs2136794406	242	D>H		No	Ensembl
rs2136794406	242	D>N		No	Ensembl
rs2136794411	242	D>V		No	Ensembl
rs764658539	243	C>*		No	ExAC TOPMed gnomAD
rs2136794437	243	C>S		No	Ensembl
rs2136794432	243	C>S		No	Ensembl
rs2136794437	243	C>Y		No	Ensembl
rs2136794448	244	F>I		No	Ensembl
rs2136794455	244	F>Y		No	Ensembl
rs1592226726	245	A>P		No	Ensembl
rs1592226726	245	A>T		No	Ensembl
COSM941485	245	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2136794903	246	C>*		No	Ensembl
rs2136794899	246	C>R		No	Ensembl
rs2136794899	246	C>S		No	Ensembl
rs2136794903	246	C>W		No	Ensembl
rs767905298	247	R>G		No	1000Genomes ExAC TOPMed gnomAD
rs374485725	247	R>L		No	ESP ExAC TOPMed gnomAD
rs374485725	247	R>P		No	ESP ExAC TOPMed gnomAD
rs374485725	247	R>Q		No	ESP ExAC TOPMed gnomAD
rs767905298	247	R>W		No	1000Genomes ExAC TOPMed gnomAD
rs1868546417	248	H>L		No	Ensembl
rs2136794933	248	H>N		No	Ensembl
rs1868546417	248	H>P		No	Ensembl
rs2136794939	248	H>Q		No	Ensembl
rs2136794933	248	H>Y		No	Ensembl
rs2136794948	249	F>I		No	Ensembl
rs2136794948	249	F>L		No	Ensembl
rs2136794952	249	F>S		No	Ensembl
rs2136794952	249	F>Y		No	Ensembl
rs756590738	250	N>I		No	ExAC gnomAD
rs2136794966	250	N>K		No	Ensembl
rs756590738	250	N>S		No	ExAC gnomAD
rs2136794957	250	N>Y		No	Ensembl
rs2136794977	251	D>A		No	Ensembl
rs766784893	251	D>E		No	ExAC gnomAD
rs1296453299	251	D>H		No	TOPMed gnomAD
rs1296453299	251	D>N		No	TOPMed gnomAD
rs2136794977	251	D>V		No	Ensembl
rs1296453299	251	D>Y		No	TOPMed gnomAD
rs2136794991	252	S>C		No	Ensembl
rs2136794997	252	S>N		No	Ensembl
rs2136795006	252	S>R		No	Ensembl
rs2136794997	252	S>T		No	Ensembl
rs1294063993	253	G>*		No	gnomAD
rs2136795019	253	G>A		No	Ensembl
rs2136795019	253	G>E		No	Ensembl
rs1294063993	253	G>R		No	gnomAD
rs375740977	254	A>D		No	ESP ExAC gnomAD
rs375740977	254	A>G		No	ESP ExAC gnomAD
rs2136795034	254	A>P		No	Ensembl
rs2136795034	254	A>T		No	Ensembl
rs375740977	254	A>V		No	ESP ExAC gnomAD
rs2136795055	255	C>*		No	Ensembl
rs2136795043	255	C>R		No	Ensembl
rs2136795045	255	C>S		No	Ensembl
rs2136795043	255	C>S		No	Ensembl
rs2136795055	255	C>W		No	Ensembl
COSM1580857 rs2136795045 COSM1580858	255	C>Y	haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated Ensembl
TCGA novel rs2136795067	256	V>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs2136795067	256	V>E		No	Ensembl
rs2136795067	256	V>G		No	Ensembl
rs2136795063	256	V>I		No	Ensembl
rs2136795063	256	V>L		No	Ensembl
rs2136795080	257	P>A		No	Ensembl
rs2136795087	257	P>H		No	Ensembl
rs2136795080	257	P>S		No	Ensembl
rs2136795080	257	P>T		No	Ensembl
COSM941486 rs755202592	258	R>C	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
COSM3688539 rs1354914975 COSM266472	258	R>H	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
rs1354914975	258	R>L		No	TOPMed gnomAD
rs1354914975	258	R>P		No	TOPMed gnomAD
rs1282468268	259	C>*		No	TOPMed gnomAD
rs2136795114	259	C>R		No	Ensembl
rs2136795114	259	C>S		No	Ensembl
rs1282468268	259	C>W		No	TOPMed gnomAD
rs2136795119	259	C>Y		No	Ensembl
rs1329534370	260	P>A		No	TOPMed gnomAD
rs2136795135	260	P>L		No	Ensembl
rs2136795135	260	P>Q		No	Ensembl
rs1329534370	260	P>S		No	TOPMed gnomAD
rs1329534370	260	P>T		No	TOPMed gnomAD
rs2136795151 COSM1579033 COSM1579034	261	Q>*	large_intestine [Cosmic]	No	cosmic curated Ensembl
rs2136795151	261	Q>E		No	Ensembl
rs2136795164	261	Q>H		No	Ensembl
rs2136795151	261	Q>K		No	Ensembl
rs2136795159	261	Q>L		No	Ensembl
rs2136795166	262	P>A		No	Ensembl
rs1057519817	262	P>R		No	gnomAD
COSM1205579 rs2136795166	262	P>S	large_intestine [Cosmic]	No	cosmic curated Ensembl
rs2136795166	262	P>T		No	Ensembl
rs370272057	263	L>F		No	ESP ExAC
rs2136795194	263	L>H		No	Ensembl
rs2136795194	263	L>P		No	Ensembl
rs370272057	263	L>V		No	ESP ExAC
COSM4043443 COSM4043442 rs758573987	264	V>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD
rs758573987	264	V>D		No	ExAC gnomAD
rs748150381	264	V>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs748150381	264	V>L		No	ExAC gnomAD
rs2136795252	265	Y>*		No	Ensembl
rs2136795241	265	Y>C		No	Ensembl
rs2136795241	265	Y>F		No	Ensembl
rs2136795233	265	Y>N		No	Ensembl
rs2136795241	265	Y>S		No	Ensembl
rs2136795268	266	N>I		No	Ensembl
rs1868548075	266	N>K		No	gnomAD
rs2136795268	266	N>S		No	Ensembl
rs2136795268	266	N>T		No	Ensembl
rs2136795258	266	N>Y		No	Ensembl
rs777560897	267	K>*		No	ExAC gnomAD
rs2136795282	267	K>M		No	Ensembl
rs2136795288	267	K>N		No	Ensembl
rs2136795282	267	K>T		No	Ensembl
rs746909010	268	L>I		No	ExAC gnomAD
rs2136795318	269	T>A		No	Ensembl
rs2136795323	269	T>I		No	Ensembl
rs2136795323	269	T>N		No	Ensembl
rs2136795318	269	T>P		No	Ensembl
rs2136795323	269	T>S		No	Ensembl
rs2136795318	269	T>S		No	Ensembl
rs745708003	270	F>L		No	ExAC TOPMed gnomAD
rs1868548458	270	F>L		No	TOPMed
rs1868548458	270	F>V		No	TOPMed
rs2136795350	271	Q>*		No	Ensembl
rs2136795350	271	Q>E		No	Ensembl
rs1157254449	271	Q>H		No	TOPMed gnomAD
rs2136795364	272	L>M		No	Ensembl
rs2136795364	272	L>V		No	Ensembl
rs2136795382	273	E>A		No	Ensembl
COSM941487 rs2136795395 COSM1586605	273	E>D	endometrium [Cosmic]	No	cosmic curated Ensembl
rs1407463956	273	E>K		No	gnomAD
rs1407463956	273	E>Q		No	gnomAD
rs2136795382	273	E>V		No	Ensembl
rs2136795403	274	P>A		No	Ensembl
rs2136795408	274	P>H		No	Ensembl
rs2136795408	274	P>L		No	Ensembl
rs2136795408	274	P>R		No	Ensembl
rs2136795403	274	P>S		No	Ensembl
rs2136795403	274	P>T		No	Ensembl
rs2136795420	275	N>D		No	Ensembl
rs1406145788	275	N>I		No	gnomAD
rs1406145788	275	N>S		No	gnomAD
rs1406145788	275	N>T		No	gnomAD
rs2136795420	275	N>Y		No	Ensembl
rs2136795440	276	P>A		No	Ensembl
rs2136795451	276	P>H		No	Ensembl
rs2136795451	276	P>L		No	Ensembl
rs2136795451	276	P>R		No	Ensembl
COSM254679 COSM1747135 rs2136795440	276	P>S	urinary_tract [Cosmic]	No	cosmic curated Ensembl
rs2136795440	276	P>T		No	Ensembl
rs2136795469	277	H>L		No	Ensembl
rs769400680	277	H>N		No	ExAC TOPMed gnomAD
rs2136795469	277	H>P		No	Ensembl
rs2136795474	277	H>Q		No	Ensembl
rs2136795469	277	H>R		No	Ensembl
rs769400680	277	H>Y		No	ExAC TOPMed gnomAD
rs775279860	278	T>I		No	ExAC TOPMed gnomAD
rs775279860	278	T>N		No	ExAC TOPMed gnomAD
rs775279860	278	T>S		No	ExAC TOPMed gnomAD
rs763600586	279	K>M		No	ExAC gnomAD
rs2136795513	279	K>N		No	Ensembl
rs763600586	279	K>R		No	ExAC gnomAD
rs2136795529	280	Y>*		No	Ensembl
rs2136795524	280	Y>F		No	Ensembl
rs2136795516	280	Y>N		No	Ensembl
rs2136795524	280	Y>S		No	Ensembl
rs985405594	281	Q>*		No	TOPMed gnomAD
rs985405594	281	Q>E		No	TOPMed gnomAD
rs1411380174 COSM94226	281	Q>H	breast Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	cosmic curated TOPMed gnomAD NCI-TCGA Cosmic
rs985405594	281	Q>K		No	TOPMed gnomAD
rs2136795543	281	Q>L		No	Ensembl
rs2136795543	281	Q>R		No	Ensembl
rs1868549795	282	Y>D		No	TOPMed gnomAD
rs2136795569	282	Y>F		No	Ensembl
rs1868549795	282	Y>H		No	TOPMed gnomAD
rs1868549795	282	Y>N		No	TOPMed gnomAD
rs2136795578	283	G>A		No	Ensembl
rs2136795578	283	G>E		No	Ensembl
rs2136795574	283	G>R		No	Ensembl
rs2136795587	284	G>A		No	Ensembl
rs2136795587	284	G>E		No	Ensembl
rs2136795603	285	V>A		No	Ensembl
rs2136795603	285	V>D		No	Ensembl
rs149635848	285	V>F		No	1000Genomes ESP ExAC TOPMed gnomAD
rs149635848	285	V>I		No	1000Genomes ESP ExAC TOPMed gnomAD
rs149635848	285	V>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs2136795631	286	C>*		No	Ensembl
rs2136795623	286	C>F		No	Ensembl
rs2136795619	286	C>S		No	Ensembl
rs2136795623	286	C>S		No	Ensembl
rs2136795623	286	C>Y		No	Ensembl
rs2136795643	287	V>E		No	Ensembl
rs2136795643	287	V>G		No	Ensembl
rs2136795636	287	V>I		No	Ensembl
rs2136795636	287	V>L		No	Ensembl
rs2136795650	288	A>D		No	Ensembl
rs2136795650	288	A>G		No	Ensembl
rs2136795650	288	A>V		No	Ensembl
rs1349556094	289	S>C		No	gnomAD
rs1868550470	289	S>I		No	Ensembl
rs1868550470	289	S>N		No	Ensembl
rs1349556094	289	S>R		No	gnomAD
rs2136795680	289	S>R		No	Ensembl
rs1868550470	289	S>T		No	Ensembl
rs2136795704	290	C>*		No	Ensembl
rs2136795687	290	C>R		No	Ensembl
rs143406438	290	C>S		No	ESP ExAC TOPMed gnomAD
rs2136795687	290	C>S		No	Ensembl
rs143406438	290	C>Y		No	ESP ExAC TOPMed gnomAD
TCGA novel	291	P>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA
rs2136795709	291	P>A		No	Ensembl
rs767016749	291	P>H		No	ExAC gnomAD
rs767016749 COSM3463318 COSM3463319	291	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD
rs767016749	291	P>R		No	ExAC gnomAD
rs2136795709	291	P>S		No	Ensembl
rs754234296	292	H>D		No	ExAC TOPMed gnomAD
rs1868562396	292	H>L		No	Ensembl
rs754234296 COSM1128537 COSM1128536	292	H>N	prostate [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs1868562396	292	H>R		No	Ensembl
rs754234296	292	H>Y		No	ExAC TOPMed gnomAD
rs2136796784	293	N>D		No	Ensembl
rs2136796787	293	N>I		No	Ensembl
rs2136796798	293	N>K		No	Ensembl
rs2136796787	293	N>S		No	Ensembl
rs1312311079	294	F>L		No	TOPMed
rs2136796804	294	F>S		No	Ensembl
rs2136796821	295	V>L		No	Ensembl
rs2136796821	295	V>M		No	Ensembl
rs2136796840	296	V>L		No	Ensembl
rs2136796840	296	V>M		No	Ensembl
rs2136796872	297	D>E		No	Ensembl
rs1057519891	297	D>H		No	gnomAD
rs748901952 COSM48868	298	Q>*	lung [Cosmic]	No	cosmic curated ExAC gnomAD
rs748901952	298	Q>E		No	ExAC gnomAD
rs2136796894	298	Q>H		No	Ensembl
rs1868562880	298	Q>L		No	TOPMed gnomAD
rs1868562880	298	Q>P		No	TOPMed gnomAD
rs2136796903	299	T>A		No	Ensembl
rs1451347222	299	T>I		No	TOPMed gnomAD
rs2136796903	299	T>P		No	Ensembl
rs1451347222	299	T>R		No	TOPMed gnomAD
rs2136796903	299	T>S		No	Ensembl
rs2136796918	301	C>*		No	Ensembl
rs2136796940	301	C>*		No	Ensembl
rs2136796932	301	C>S		No	Ensembl
rs2136796940	301	C>W		No	Ensembl
rs2136796951	302	V>A		No	Ensembl
rs2136796951	302	V>D		No	Ensembl
rs2136796951	302	V>G		No	Ensembl
rs2136796945	302	V>I		No	Ensembl
rs2136796945	302	V>L		No	Ensembl
rs2136796984	303	R>G		No	Ensembl
rs2136796994	303	R>K		No	Ensembl
rs2136796994	303	R>M		No	Ensembl
rs1031968075	303	R>S		No	TOPMed gnomAD
rs2136796994	303	R>T		No	Ensembl
rs2136796984	303	R>W		No	Ensembl
rs2136797034	304	A>D		No	Ensembl
rs2136797034	304	A>G		No	Ensembl
rs768226214	304	A>P		No	ExAC TOPMed gnomAD
rs768226214	304	A>S		No	ExAC TOPMed gnomAD
rs768226214	304	A>T		No	ExAC TOPMed gnomAD
rs2136797034	304	A>V		No	Ensembl
rs2136797070	305	C>F		No	Ensembl
rs2136797058	305	C>G		No	Ensembl
rs2136797058	305	C>R		No	Ensembl
rs2136797058	305	C>S		No	Ensembl
rs2136797070	305	C>S		No	Ensembl
rs1203623144	305	C>W		No	gnomAD
rs2136797070	305	C>Y		No	Ensembl
rs2136797092	306	P>A		No	Ensembl
COSM4043445 rs2136797103 COSM4043444	306	P>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs2136797103	306	P>L		No	Ensembl
rs2136797103	306	P>R		No	Ensembl
rs2136797092	306	P>S		No	Ensembl
rs2136797092	306	P>T		No	Ensembl
rs2136797126	307	P>A		No	Ensembl
rs2136797141	307	P>H		No	Ensembl
rs2136797141	307	P>L		No	Ensembl
rs2136797141	307	P>R		No	Ensembl
rs2136797126	307	P>S		No	Ensembl
rs2136797126	307	P>T		No	Ensembl
rs2136797184	308	D>A		No	Ensembl
rs2136797202	308	D>E		No	Ensembl
rs2136797184	308	D>G		No	Ensembl
rs2136797175	308	D>H		No	Ensembl
rs2136797175	308	D>N		No	Ensembl
rs2136797184	308	D>V		No	Ensembl
rs1272763651	309	K>*		No	gnomAD
rs1272763651	309	K>E		No	gnomAD
rs2136797228	309	K>M		No	Ensembl
rs2136797240	309	K>N		No	Ensembl
rs2136797228	309	K>R		No	Ensembl
rs2136797255	310	M>L		No	Ensembl
rs1443291012	310	M>T		No	gnomAD
rs2136797270	311	E>*		No	Ensembl
rs2136797270 TCGA novel	311	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs2136797270	311	E>Q		No	Ensembl
rs2136797280	311	E>V		No	Ensembl
rs1868563773	312	V>A		No	TOPMed
rs1868563773	312	V>G		No	TOPMed
rs2136797289	312	V>I		No	Ensembl
rs2136797289	312	V>L		No	Ensembl
rs1868564040	313	D>E		No	TOPMed
rs1235897459	313	D>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1235897459	313	D>N		No	TOPMed gnomAD
rs2136797324	313	D>V		No	Ensembl
rs1235897459	313	D>Y		No	TOPMed gnomAD
rs1868564130	314	K>*		No	TOPMed
rs1868564130 TCGA novel	314	K>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed
rs137870123	314	K>I		No	ESP ExAC gnomAD
rs137870123	314	K>R		No	ESP ExAC gnomAD
COSM4043446 COSM4043447 rs137870123	314	K>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ESP ExAC gnomAD
rs2136797354	315	N>D		No	Ensembl
rs1189342687	315	N>I		No	gnomAD
rs1189342687	315	N>S		No	gnomAD
rs2136797354	315	N>Y		No	Ensembl
rs989554247	316	G>A		No	TOPMed
rs989554247	316	G>E		No	TOPMed
rs2136797369	316	G>R		No	Ensembl
rs989554247	316	G>V		No	TOPMed
rs2136797369	316	G>W		No	Ensembl
rs1565857617	317	L>F		No	gnomAD
rs2136797386	317	L>H		No	Ensembl
rs1565857617	317	L>I		No	gnomAD
rs1565857617	317	L>V		No	gnomAD
rs1408700785	318	K>*		No	TOPMed gnomAD
rs1408700785	318	K>E		No	TOPMed gnomAD
rs2136797405	318	K>M		No	Ensembl
rs2136797413	318	K>N		No	Ensembl
rs1408700785	318	K>Q		No	TOPMed gnomAD
rs2136797405	318	K>R		No	Ensembl
rs372826813	319	M>I		No	ESP TOPMed
rs2136797419	319	M>K		No	Ensembl
rs2136797419	319	M>R		No	Ensembl
rs2136797419	319	M>T		No	Ensembl
rs2136797450	320	C>*		No	Ensembl
rs2136797436	320	C>G		No	Ensembl
rs2136797436	320	C>R		No	Ensembl
rs2136797436	320	C>S		No	Ensembl
rs2136797450	320	C>W		No	Ensembl
rs2136797444	320	C>Y		No	Ensembl
rs1241976168	321	E>*		No	gnomAD
rs2136797472	321	E>D		No	Ensembl
rs2136797464	321	E>G		No	Ensembl
rs1241976168	321	E>K		No	gnomAD
rs1241976168	321	E>Q		No	gnomAD
rs2136797464	321	E>V		No	Ensembl
rs2136797488	322	P>H		No	Ensembl
rs2136797488	322	P>L		No	Ensembl
rs2136797488	322	P>R		No	Ensembl
rs770284356	322	P>S		No	TOPMed gnomAD
rs771534313	323	C>F		No	ExAC gnomAD
rs2136797499	323	C>R		No	Ensembl
rs771534313	323	C>S		No	ExAC gnomAD
rs771534313	323	C>Y		No	ExAC gnomAD
rs2136797534	324	G>A		No	Ensembl
rs2136797534	324	G>E		No	Ensembl
rs375335792	324	G>R		No	ExAC TOPMed gnomAD
rs2136797534	324	G>V		No	Ensembl
rs375335792	324	G>W		No	ExAC TOPMed gnomAD
rs2136797549	325	G>*		No	Ensembl
rs2136797549 COSM1205577	325	G>R	large_intestine [Cosmic]	No	cosmic curated Ensembl
rs2136797574	326	L>I		No	Ensembl
rs780746041	326	L>P		No	Ensembl
rs780746041	326	L>Q		No	Ensembl
rs2136797574	326	L>V		No	Ensembl
rs975034342	327	C>G		No	Ensembl
rs975034342	327	C>R		No	Ensembl
rs975034342	327	C>S		No	Ensembl
rs759969948	327	C>S		No	ExAC TOPMed gnomAD
rs759969948	327	C>Y		No	ExAC TOPMed gnomAD
rs2136797626	328	P>A		No	Ensembl
rs2136797626	328	P>S		No	Ensembl
rs2136797626	328	P>T		No	Ensembl
rs2136797640	329	K>*		No	Ensembl
COSM280844 rs2136797640	329	K>E	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs2136797655	329	K>I		No	Ensembl
rs2136797662	329	K>N		No	Ensembl
rs2136797640	329	K>Q		No	Ensembl
rs2136797655	329	K>R		No	Ensembl
rs2136798146	330	A>D		No	Ensembl
rs2136798146	330	A>G		No	Ensembl
rs2136797671	330	A>P		No	Ensembl
rs2136797671	330	A>S		No	Ensembl
rs2136797671	330	A>T		No	Ensembl
rs2136798146	330	A>V		No	Ensembl
rs2136798171	331	C>*		No	Ensembl
rs2136798162	331	C>F		No	Ensembl
rs2136798157	331	C>R		No	Ensembl
rs2136798162	331	C>S		No	Ensembl
rs2136798157	331	C>S		No	Ensembl
rs2136798171	331	C>W		No	Ensembl
rs2136798162	331	C>Y		No	Ensembl
rs1868569639	332	E>D		No	Ensembl
rs2136798181	332	E>G		No	Ensembl
rs2136798176 COSM254677 COSM1747136	332	E>K	Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs2136798176 COSM4838034 COSM4838033	332	E>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs2136798181	332	E>V		No	Ensembl
rs2136798203	333	G>E		No	Ensembl
rs1390249418	333	G>R		No	gnomAD
rs2136798215	334	T>A		No	Ensembl
rs2136798224	334	T>I		No	Ensembl
rs2136798224	334	T>K		No	Ensembl
rs2136798215	334	T>P		No	Ensembl
rs2136798224	334	T>R		No	Ensembl
rs2136798215	334	T>S		No	Ensembl
rs2136798243	335	G>D		No	Ensembl
rs1868570049	335	G>R		No	TOPMed
rs1868570049	335	G>S		No	TOPMed
rs1868570239	336	S>C		No	TOPMed gnomAD
rs775899344	336	S>P		No	ExAC TOPMed gnomAD
rs775899344	336	S>T		No	ExAC TOPMed gnomAD
rs1868570239	336	S>Y		No	TOPMed gnomAD
rs1281839539	337	G>E		No	TOPMed gnomAD
COSM4681513 rs1439217874 COSM1741446 COSM1741447 COSM4681514	337	G>R	Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic]	No	cosmic curated NCI-TCGA Cosmic TOPMed gnomAD
rs1439217874	337	G>W		No	TOPMed gnomAD
rs2136798287	338	S>C		No	Ensembl
rs2136798287	338	S>G		No	Ensembl
rs2136798294	338	S>I		No	Ensembl
rs2136798294	338	S>N		No	Ensembl
rs2136798301	338	S>R		No	Ensembl
rs2136798294	338	S>T		No	Ensembl
rs763264762	339	R>C		No	ExAC TOPMed gnomAD
rs763264762	339	R>G		No	ExAC TOPMed gnomAD
rs751837696	339	R>H		No	ExAC gnomAD
rs751837696	339	R>P		No	ExAC gnomAD
rs2136798343	340	F>I		No	Ensembl
rs2136798343	340	F>L		No	Ensembl
rs1270204703	340	F>L		No	TOPMed gnomAD
COSM1284767 COSM1284766	340	F>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2136798343	340	F>V		No	Ensembl
rs2136798363	341	Q>*		No	Ensembl
rs2136798363	341	Q>E		No	Ensembl
rs2136798374	341	Q>L		No	Ensembl
rs2136798378	342	T>I		No	Ensembl
rs2136798378	342	T>S		No	Ensembl
rs1327190233	343	V>L		No	gnomAD
rs1327190233	343	V>M		No	gnomAD
rs2136798407	344	D>A		No	Ensembl
rs2136798418	344	D>E		No	Ensembl
rs2136798407	344	D>G		No	Ensembl
rs2136798398	344	D>H		No	Ensembl
rs2136798398	344	D>N		No	Ensembl
rs2136798407	344	D>V		No	Ensembl
rs2136798398	344	D>Y		No	Ensembl
rs762035321	345	S>*		No	ExAC gnomAD
COSM941492 rs762035321 COSM1586602	345	S>L	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD
rs2136798426	345	S>T		No	Ensembl
rs762035321	345	S>W		No	ExAC gnomAD
rs2136798443	346	S>C		No	Ensembl
rs2136798448	346	S>N		No	Ensembl
rs2136798457	346	S>R		No	Ensembl
rs2136798448	346	S>T		No	Ensembl
rs2136798470	347	N>H		No	Ensembl
rs1232285686	347	N>I		No	TOPMed gnomAD
rs2136798487	347	N>K		No	Ensembl
rs1232285686	347	N>S		No	TOPMed gnomAD
rs2136798470	347	N>Y		No	Ensembl
rs2136798498	348	I>F		No	Ensembl
rs1452172378	348	I>N		No	TOPMed gnomAD
rs1452172378	348	I>T		No	TOPMed gnomAD
rs1266522342	349	D>E		No	gnomAD
rs2136798531	349	D>G		No	Ensembl
rs2136798519	349	D>H		No	Ensembl
rs2136798519	349	D>N		No	Ensembl
rs2136798531	349	D>V		No	Ensembl
rs750531252	350	G>A		No	ExAC gnomAD
rs750531252	350	G>E		No	ExAC gnomAD
rs1479967163	350	G>R		No	TOPMed gnomAD
rs750531252	350	G>V		No	ExAC gnomAD
rs2136798586	351	F>C		No	Ensembl
rs2136798573	351	F>I		No	Ensembl
rs2136798573	351	F>V		No	Ensembl
rs2136798586	351	F>Y		No	Ensembl
rs2136798617	352	V>A		No	Ensembl
rs2136798617	352	V>E		No	Ensembl
rs2136798617	352	V>G		No	Ensembl
rs2136798605	352	V>L		No	Ensembl
rs2136798605	352	V>M		No	Ensembl
rs2136798630	353	N>I		No	Ensembl
rs756031721	353	N>K		No	ExAC gnomAD
rs2136798630	353	N>S		No	Ensembl
rs2136798630	353	N>T		No	Ensembl
rs2136798626	353	N>Y		No	Ensembl
rs1451140048	354	C>R		No	gnomAD
rs766278040	354	C>S		No	ExAC gnomAD
rs766278040	354	C>Y		No	ExAC gnomAD
COSM1476732 rs993665271 COSM431477	355	T>I	Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
rs993665271	355	T>N		No	TOPMed gnomAD
rs993665271	355	T>S		No	TOPMed gnomAD
rs2136798667	356	K>E		No	Ensembl
rs2136798676	356	K>M		No	Ensembl
rs2136798667	356	K>Q		No	Ensembl
rs2136798685	357	I>F		No	Ensembl
rs2136798685	357	I>L		No	Ensembl
rs140648008	357	I>M		No	1000Genomes ESP ExAC TOPMed gnomAD
rs2136798691	357	I>N		No	Ensembl
rs2136798691	357	I>T		No	Ensembl
rs1592227025	359	G>A		No	Ensembl
rs2136798721	359	G>C		No	Ensembl
rs1592227025	359	G>D		No	Ensembl
rs2136798721	359	G>R		No	Ensembl
rs2136798721	359	G>S		No	Ensembl
rs2136798743	360	N>H		No	Ensembl
rs2136798749	360	N>I		No	Ensembl
rs2136798757	360	N>K		No	Ensembl
rs2136798749	360	N>S		No	Ensembl
rs2136798749	360	N>T		No	Ensembl
rs2136798743	360	N>Y		No	Ensembl
rs937369055	361	L>M		No	TOPMed gnomAD
rs937369055	361	L>V		No	TOPMed gnomAD
rs2136798798	362	D>A		No	Ensembl
rs2136798809	362	D>E		No	Ensembl
rs2136798798	362	D>G		No	Ensembl
rs2136798791	362	D>H		No	Ensembl
rs2136798791	362	D>N		No	Ensembl
rs2136798798	362	D>V		No	Ensembl
rs2136798791	362	D>Y		No	Ensembl
rs2136798816	363	F>I		No	Ensembl
rs778618876	363	F>L		No	ExAC TOPMed gnomAD
rs2136798816	363	F>L		No	Ensembl
rs2136798850	364	L>P		No	Ensembl
rs2136798850	364	L>Q		No	Ensembl
rs2136798839	364	L>V		No	Ensembl
rs2136798869	365	I>F		No	Ensembl
rs2136798869	365	I>L		No	Ensembl
rs2136798915	365	I>M		No	Ensembl
rs2136798905	365	I>N		No	Ensembl
rs2136798869	365	I>V		No	Ensembl
rs1349303648	366	T>A		No	TOPMed gnomAD
rs1868573572	366	T>I		No	Ensembl
rs1868573572	366	T>N		No	Ensembl
rs1349303648	366	T>P		No	TOPMed gnomAD
rs1349303648	366	T>S		No	TOPMed gnomAD
rs1868573572	366	T>S		No	Ensembl
rs2136798947	367	G>A		No	Ensembl
rs758130617	367	G>C		No	ExAC gnomAD
rs2136798947	367	G>D		No	Ensembl
rs758130617	367	G>R		No	ExAC gnomAD
rs758130617	367	G>S		No	ExAC gnomAD
rs2136798964	368	L>F		No	Ensembl
rs1344081634	368	L>H		No	TOPMed gnomAD
rs2136798964	368	L>I		No	Ensembl
rs1344081634	368	L>P		No	TOPMed gnomAD
rs1344081634	368	L>R		No	TOPMed gnomAD
rs2136798964	368	L>V		No	Ensembl
rs2136798991	369	N>D		No	Ensembl
rs200211366	369	N>I		No	ESP ExAC TOPMed gnomAD
rs200211366	369	N>S		No	ESP ExAC TOPMed gnomAD
rs200211366	369	N>T		No	ESP ExAC TOPMed gnomAD
rs2136798991	369	N>Y		No	Ensembl
rs2136799016	370	G>A		No	Ensembl
rs2136799016	370	G>E		No	Ensembl
rs2136799016	370	G>V		No	Ensembl
rs1304569891	371	D>G		No	TOPMed gnomAD
rs763820950	372	P>A		No	ExAC TOPMed gnomAD
rs751110954	372	P>H		No	ExAC TOPMed gnomAD
rs751110954	372	P>R		No	ExAC TOPMed gnomAD
rs763820950	372	P>S		No	ExAC TOPMed gnomAD
rs780527140	373	W>*		No	ExAC gnomAD
rs371094129	373	W>R		No	ESP ExAC TOPMed gnomAD
rs980406157	374	H>Y		No	TOPMed gnomAD
rs1344671794	376	I>S		No	gnomAD
rs1452978964	377	P>A		No	TOPMed gnomAD
rs1034050608	377	P>L		No	TOPMed gnomAD
rs1452978964	377	P>S		No	TOPMed gnomAD
rs1452978964	377	P>T		No	TOPMed gnomAD
COSM1476733 COSM431478	378	A>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1868756692	378	A>V		No	Ensembl
rs1247424671	383	K>T		No	gnomAD
rs1248683647	384	L>F		No	TOPMed
rs2136808041	384	L>H		No	Ensembl
rs12320176 RCV000897307 VAR_049710	385	N>S		No	ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs772484121	388	R>G		No	ExAC TOPMed gnomAD
COSM1299648 COSM1299649 rs570637025	388	R>Q	urinary_tract [Cosmic]	No	cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs772484121	388	R>W		No	ExAC TOPMed gnomAD
rs2136808104	390	V>I		No	Ensembl
rs776526512	391	R>Q		No	ExAC TOPMed gnomAD
rs139868331	391	R>W		No	ESP ExAC TOPMed gnomAD
rs2136808146	392	E>D		No	Ensembl
rs912943874	393	I>L		No	Ensembl
rs1868759206	394	T>K		No	TOPMed
rs1338197979	395	G>A		No	TOPMed gnomAD
rs1338197979	395	G>D		No	TOPMed gnomAD
rs2136808162	395	G>S		No	Ensembl
rs2136808617	397	L>V		No	Ensembl
rs1868766808	399	I>N		No	TOPMed
rs2136808644	401	S>C		No	Ensembl
rs2136808659	402	W>C		No	Ensembl
rs1868767053	402	W>L		No	TOPMed
rs1245889623	402	W>R		No	gnomAD
rs370847503	403	P>L		No	ESP ExAC TOPMed gnomAD
rs2136808664	403	P>S		No	Ensembl
rs1868767384	404	P>L		No	TOPMed
rs1006035173	405	H>Y		No	Ensembl
rs765810588	406	M>L		No	ExAC gnomAD
rs770069064	406	M>R		No	TOPMed gnomAD
rs765810588	406	M>V		No	ExAC gnomAD
rs753381982	408	N>K		No	ExAC TOPMed gnomAD
rs758858885	409	F>L		No	ExAC gnomAD
rs2136808702	409	F>L		No	Ensembl
rs764713576	410	S>I		No	ExAC gnomAD
rs764713576	410	S>T		No	ExAC gnomAD
rs1868768082	411	V>I		No	gnomAD
rs1023742896	413	S>F		No	Ensembl
rs74763375	414	N>H		No	gnomAD
rs1868768759	417	T>I		No	gnomAD
rs1868768759	417	T>N		No	gnomAD
rs1592229021	417	T>P		No	Ensembl
rs756432396	418	I>M		No	ExAC gnomAD
rs141230043	418	I>N		No	ESP ExAC TOPMed gnomAD
rs201880960	418	I>V		No	TOPMed gnomAD
COSM4835086 COSM4835085	419	G>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1005401010	420	G>D		No	TOPMed
rs1005401010	420	G>V		No	TOPMed
rs768445052	421	R>I		No	ExAC gnomAD
rs768445052	421	R>K		No	ExAC gnomAD
rs768445052	421	R>T		No	ExAC gnomAD
rs1403302046	422	S>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1403302046	422	S>N		No	gnomAD
rs1403302046	422	S>T		No	gnomAD
rs1318378598	424	Y>*		No	gnomAD
rs774415293	424	Y>C		No	ExAC gnomAD
rs1206131860	425	N>H		No	Ensembl
rs2136809178	425	N>K		No	Ensembl
rs1868770496	425	N>S		No	Ensembl
rs1480617709	426	R>P		No	gnomAD
rs1480617709	426	R>Q		No	gnomAD
rs375932235	426	R>W		No	ESP ExAC TOPMed gnomAD
rs1868777311	428	F>C		No	TOPMed
rs1426824623	428	F>L		No	gnomAD
rs750839021	430	L>M		No	ExAC TOPMed gnomAD
rs2136809247	432	I>F		No	Ensembl
TCGA novel	432	I>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs756381479	432	I>T		No	ExAC gnomAD
rs930227050	434	K>R		No	TOPMed gnomAD
rs199613777	435	N>K		No	1000Genomes ExAC TOPMed gnomAD
rs2229045	436	L>F		No	ESP ExAC TOPMed gnomAD
COSM74537	438	V>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2136809275	438	V>L		No	Ensembl
rs2136809302	439	T>K		No	Ensembl
rs2136809302	439	T>R		No	Ensembl
rs2136809294	439	T>S		No	Ensembl
rs2136809307	440	S>C		No	Ensembl
rs2136809307	440	S>F		No	Ensembl
rs2136809307	440	S>Y		No	Ensembl
rs2136809314	441	L>M		No	Ensembl
rs2136809314	441	L>V		No	Ensembl
rs2136809349	442	G>A		No	Ensembl
rs2136809338	442	G>C		No	Ensembl
rs2136809349	442	G>D		No	Ensembl
rs2136809338	442	G>R		No	Ensembl
rs2136809338	442	G>S		No	Ensembl
rs748051476	443	F>I		No	ExAC gnomAD
rs748051476	443	F>L		No	ExAC gnomAD
rs1868778752	443	F>L		No	Ensembl
rs2136809367	443	F>S		No	Ensembl
rs771935902	444	R>*		No	ExAC TOPMed gnomAD
rs777498890	444	R>L		No	ExAC TOPMed gnomAD
rs777498890	444	R>P		No	ExAC TOPMed gnomAD
rs777498890 COSM4043452 COSM4043453	444	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs2136809406	445	S>C		No	Ensembl
TCGA novel	445	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2136809398	445	S>T		No	Ensembl
rs2136809406	445	S>Y		No	Ensembl
rs1262580265	446	L>M		No	gnomAD
rs888250331	446	L>P		No	TOPMed gnomAD
rs888250331	446	L>Q		No	TOPMed gnomAD
rs1262580265	446	L>V		No	gnomAD
rs2136809449	447	K>*		No	Ensembl
rs2136809458	447	K>N		No	Ensembl
rs1203350210	447	K>R		No	TOPMed gnomAD
rs1203350210	447	K>T		No	TOPMed gnomAD
rs2136809468	448	E>*		No	Ensembl
rs2136809468	448	E>K		No	Ensembl
rs2136809468	448	E>Q		No	Ensembl
rs2136809477	449	I>N		No	Ensembl
rs2136809477	449	I>S		No	Ensembl
rs1490485753	450	S>C		No	gnomAD
rs2136809502	450	S>I		No	Ensembl
rs2136809514	450	S>R		No	Ensembl
rs2136809502	450	S>T		No	Ensembl
rs2136809528	451	A>D		No	Ensembl
rs2136809528	451	A>G		No	Ensembl
rs2136809523	451	A>P		No	Ensembl
rs2136809523	451	A>S		No	Ensembl
rs2136809523	451	A>T		No	Ensembl
rs2136809545	452	G>A		No	Ensembl
rs2136809545	452	G>E		No	Ensembl
rs2136809545	452	G>V		No	Ensembl
rs776335440	453	R>C		No	ExAC TOPMed gnomAD
rs776335440	453	R>G		No	ExAC TOPMed gnomAD
rs144549266	453	R>H		No	1000Genomes ExAC TOPMed gnomAD
rs144549266	453	R>P		No	1000Genomes ExAC TOPMed gnomAD
rs776335440	453	R>S		No	ExAC TOPMed gnomAD
rs2136809578	454	I>F		No	Ensembl
rs2136809583	454	I>M		No	Ensembl
rs2136809599	455	Y>F		No	Ensembl
rs2136809595	455	Y>H		No	Ensembl
rs2136809615	456	I>M		No	Ensembl
rs1868781829	456	I>T		No	Ensembl
rs200007116	456	I>V		No	ExAC TOPMed gnomAD
rs2136809625	457	S>C		No	Ensembl
rs1297706840	457	S>N		No	TOPMed gnomAD
rs1400691766	457	S>R		No	TOPMed gnomAD
rs1297706840	457	S>T		No	TOPMed gnomAD
rs1868782199	458	A>D		No	TOPMed gnomAD
rs1868782199	458	A>G		No	TOPMed gnomAD
rs1385659523	458	A>P		No	TOPMed gnomAD
rs1385659523	458	A>T		No	TOPMed gnomAD
rs1868782199	458	A>V		No	TOPMed gnomAD
rs1290500792	459	N>D		No	TOPMed gnomAD
rs750292694	459	N>K		No	ExAC TOPMed gnomAD
COSM4937774 COSM4937775	459	N>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2136809669	460	R>G		No	Ensembl
rs2136809677	460	R>K		No	Ensembl
rs2136809686	460	R>S		No	Ensembl
rs2136809677	460	R>T		No	Ensembl
rs2136809669	460	R>W		No	Ensembl
rs756039555	461	Q>*		No	ExAC gnomAD
rs756039555	461	Q>E		No	ExAC gnomAD
rs750783773	461	Q>H		No	ExAC gnomAD
rs756039555	461	Q>K		No	ExAC gnomAD
rs2136809698	461	Q>L		No	Ensembl
rs2136809698	461	Q>R		No	Ensembl
rs2136809715	462	L>F		No	Ensembl
rs2136809715	462	L>I		No	Ensembl
rs2136809732	462	L>P		No	Ensembl
rs2136809715	462	L>V		No	Ensembl
rs2136809754	463	C>*		No	Ensembl
rs2136809744	463	C>F		No	Ensembl
rs2136809744	463	C>S		No	Ensembl
rs2136809754	463	C>W		No	Ensembl
rs1868782868	464	Y>*		No	TOPMed
COSM160823 rs2136809763	464	Y>C	NS [Cosmic]	No	cosmic curated Ensembl
rs2136809763	464	Y>F		No	Ensembl
rs2136809763	464	Y>S		No	Ensembl
rs1664189890	465	H>Q		No	TOPMed
rs2136809785	465	H>Y		No	Ensembl
rs1408437991	466	H>L		No	TOPMed gnomAD
COSM3739771 COSM3739770 rs2136809810	466	H>Q	liver [Cosmic]	No	cosmic curated Ensembl
rs1408437991	466	H>R		No	TOPMed gnomAD
rs2136809798	466	H>Y		No	Ensembl
rs2136809819	467	S>C		No	Ensembl
rs2136809819	467	S>F		No	Ensembl
rs2136809819	467	S>Y		No	Ensembl
rs1868783242	468	L>*		No	TOPMed
rs2136809843	468	L>F		No	Ensembl
rs1868783242	468	L>S		No	TOPMed
rs2136809855	469	N>I		No	Ensembl
rs2136809866	469	N>K		No	Ensembl
rs2136809855	469	N>S		No	Ensembl
rs2136809855	469	N>T		No	Ensembl
rs2136809849	469	N>Y		No	Ensembl
rs2136809886	470	W>*		No	Ensembl
rs2136809878	470	W>*		No	Ensembl
rs2136809886	470	W>C		No	Ensembl
rs2136809878	470	W>L		No	Ensembl
rs2136809878	470	W>S		No	Ensembl
rs1301748545	471	T>A		No	TOPMed gnomAD
rs1868783474	471	T>I		No	Ensembl
rs1868783474	471	T>S		No	Ensembl
rs761188556	472	K>N		No	ExAC TOPMed gnomAD
rs2136809916	472	K>Q		No	Ensembl
rs2136809934	473	V>E		No	Ensembl
rs2136809927	473	V>L		No	Ensembl
rs2136809927	473	V>M		No	Ensembl
rs2136809943	474	L>F		No	Ensembl
rs2136809948	474	L>H		No	Ensembl
rs2136809948	474	L>P		No	Ensembl
rs2136809943	474	L>V		No	Ensembl
rs1035001455	475	R>G		No	Ensembl
rs372171124	475	R>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs372171124	475	R>P		No	1000Genomes ESP ExAC TOPMed gnomAD
rs372171124	475	R>Q		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1035001455 COSM1363001 COSM941493	475	R>W	Variant assessed as Somatic; MODERATE impact. large_intestine urinary_tract endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl NCI-TCGA
rs755162824	476	G>A		No	ExAC TOPMed gnomAD
rs755162824	476	G>E		No	ExAC TOPMed gnomAD
rs765931642	476	G>R		No	Ensembl
rs755162824	476	G>V		No	ExAC TOPMed gnomAD
rs765931642	476	G>W		No	Ensembl
rs2136810003	477	P>A		No	Ensembl
rs985205730	477	P>H		No	TOPMed gnomAD
rs985205730	477	P>L		No	TOPMed gnomAD
rs985205730	477	P>R		No	TOPMed gnomAD
rs2136810003	477	P>S		No	Ensembl
rs2136810003	477	P>T		No	Ensembl
TCGA novel rs2136810016	478	T>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs1010091317	478	T>K		No	TOPMed gnomAD
rs1010091317	478	T>M		No	TOPMed gnomAD
rs2136810016	478	T>P		No	Ensembl
rs1010091317	478	T>R		No	TOPMed gnomAD
rs2136810016	478	T>S		No	Ensembl
COSM1236018 COSM1236017 rs2136810031	479	E>K	haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated Ensembl
rs2136810031	479	E>Q		No	Ensembl
rs2136810036	479	E>V		No	Ensembl
rs1277792761	480	E>D		No	Ensembl
rs2136810052	480	E>G		No	Ensembl
rs1289331532	480	E>K		No	gnomAD
rs1289331532	480	E>Q		No	gnomAD
rs2136810052	480	E>V		No	Ensembl
COSM4877408 COSM4877407 rs1488014391	481	R>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA gnomAD
rs1488014391	481	R>G		No	gnomAD
rs746806935	481	R>P		No	ExAC TOPMed gnomAD
rs746806935	481	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1252294872	482	L>V		No	TOPMed gnomAD
rs1868786260	483	D>E		No	TOPMed
rs2136810093	483	D>H		No	Ensembl
rs2136810093	483	D>N		No	Ensembl
rs2136810097	483	D>V		No	Ensembl
rs546727763	484	I>F		No	1000Genomes
rs546727763	484	I>L		No	1000Genomes
rs2136810116	484	I>M		No	Ensembl
rs2136810112	484	I>N		No	Ensembl
rs2136810120	485	K>*		No	Ensembl
rs1180555614	485	K>M		No	gnomAD
rs2136810129	485	K>N		No	Ensembl
rs1180555614	485	K>R		No	gnomAD
rs2136810134	486	H>D		No	Ensembl
rs1868786575	486	H>L		No	Ensembl
rs2136810134	486	H>N		No	Ensembl
rs2136810144	486	H>Q		No	Ensembl
rs1868786575	486	H>R		No	Ensembl
rs2136810134	486	H>Y		No	Ensembl
rs2136810147	487	N>D		No	Ensembl
rs2136810157	487	N>I		No	Ensembl
rs2136810161	487	N>K		No	Ensembl
rs2136810157	487	N>S		No	Ensembl
rs2136810157	487	N>T		No	Ensembl
rs2136810147	487	N>Y		No	Ensembl
rs1394170153	488	R>G		No	gnomAD
COSM1580860 rs780965539 COSM1580859	488	R>Q	haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs1394170153	488	R>W		No	gnomAD
rs1337222529	489	P>A		No	TOPMed gnomAD
rs745490480	489	P>L		No	ExAC gnomAD
rs745490480	489	P>R		No	ExAC gnomAD
rs1337222529	489	P>S		No	TOPMed gnomAD
rs1337222529	489	P>T		No	TOPMed gnomAD
rs775042280	490	R>C		No	ExAC TOPMed gnomAD
rs775042280	490	R>G		No	ExAC TOPMed gnomAD
COSM1645710 rs149951770 COSM468647	490	R>H	kidney [Cosmic]	No	cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs149951770	490	R>P		No	1000Genomes ESP ExAC TOPMed gnomAD
rs775042280	490	R>S		No	ExAC TOPMed gnomAD
rs2136810221	491	R>K		No	Ensembl
COSM1322376 COSM1322375 rs2136810221	491	R>T	ovary Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs910925285	492	D>A		No	Ensembl
rs2136810242	492	D>E		No	Ensembl
rs910925285	492	D>G		No	Ensembl
rs2136810232	492	D>H		No	Ensembl
rs2136810232	492	D>N		No	Ensembl
rs910925285	492	D>V		No	Ensembl
rs754618467	493	C>*		No	ExAC TOPMed gnomAD
rs754618467	493	C>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA
rs2136810249	493	C>G		No	Ensembl
rs2136810249	493	C>S		No	Ensembl
rs754618467	493	C>W		No	ExAC TOPMed gnomAD
rs913518429	493	C>Y		No	TOPMed gnomAD
rs182692782	494	V>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs182692782	494	V>M		No	1000Genomes ESP ExAC TOPMed gnomAD
rs2136810905	495	A>P		No	Ensembl
rs2136810905	495	A>T		No	Ensembl
rs1217668964	496	E>D		No	gnomAD
rs1868796467	496	E>G		No	gnomAD
rs1056500812	496	E>K		No	Ensembl
rs375153329	497	G>S		No	ESP ExAC TOPMed gnomAD
COSM1236019 rs146593760 COSM1236020	498	K>I	stomach haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs1254894215	499	V>A		No	gnomAD
rs1201268212	499	V>L		No	gnomAD
rs1188742105	500	C>Y		No	gnomAD
rs2136810973	501	D>V		No	Ensembl
rs2136810990	504	C>Y		No	Ensembl
rs2136810999	505	S>P		No	Ensembl
rs2136811011	505	S>Y		No	Ensembl
rs1868797573	506	S>C		No	Ensembl
rs1868797573	506	S>F		No	Ensembl
rs2136811024	507	G>R		No	Ensembl
rs765496438	508	G>A		No	ExAC TOPMed gnomAD
rs765496438	508	G>E		No	ExAC TOPMed gnomAD
rs2136811038	508	G>R		No	Ensembl
rs765496438	508	G>V		No	ExAC TOPMed gnomAD
rs1868798148	509	C>F		No	gnomAD
rs763162378	509	C>R		No	ExAC gnomAD
rs763162378	509	C>S		No	ExAC gnomAD
rs2136811064	509	C>W		No	Ensembl
rs1868798148	509	C>Y		No	gnomAD
rs2136811071	510	W>*		No	Ensembl
rs1431777208	510	W>*		No	gnomAD
rs1431777208	510	W>C		No	gnomAD
rs1468427103	511	G>D		No	gnomAD
rs1868798697	512	P>L		No	gnomAD
COSM4043456 COSM4043457	513	G>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs145108143	513	G>D		No	ESP ExAC TOPMed gnomAD
rs1198371951	514	P>L		No	TOPMed
rs1376131736	514	P>S		No	TOPMed
rs1376131736	514	P>T		No	TOPMed
rs751658102	515	G>R		No	ExAC TOPMed gnomAD
rs751658102	515	G>S		No	ExAC TOPMed gnomAD
rs2136811128	517	C>Y		No	Ensembl
rs572923795 COSM3954978 COSM3954979	518	L>F	lung [Cosmic]	No	cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs1399215989	518	L>S		No	gnomAD
rs1868800105	519	S>C		No	TOPMed
rs1868800105	519	S>F		No	TOPMed
rs1000415301	520	C>S		No	Ensembl
rs2136811152	520	C>Y		No	Ensembl
COSM5608601 COSM5608602 rs755919824	521	R>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD
COSM1586601 COSM941494 rs779911233	521	R>Q	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs748825294	522	N>Y		No	ExAC TOPMed gnomAD
rs530169899	523	Y>C		No	TOPMed gnomAD
rs754708975	523	Y>H		No	ExAC TOPMed gnomAD
rs1259536051	524	S>T		No	gnomAD
rs543942622	525	R>*		No	ExAC gnomAD
rs543942622	525	R>G		No	ExAC gnomAD
rs771536549	525	R>P		No	ExAC gnomAD
rs771536549	525	R>Q		No	ExAC gnomAD
rs2136811193	526	G>R		No	Ensembl
rs1271484598	527	G>D		No	gnomAD
rs2136811199	527	G>S		No	Ensembl
rs1868801641	528	V>I		No	Ensembl
rs746234503	529	C>F		No	ExAC gnomAD
rs746234503	529	C>Y		No	ExAC gnomAD
rs1868802158	531	T>N		No	Ensembl
rs200670489	531	T>P		No	1000Genomes ExAC gnomAD
rs200670489	531	T>S		No	1000Genomes ExAC gnomAD
rs147888915	533	C>R		No	ESP ExAC TOPMed gnomAD
rs2136811248	533	C>S		No	Ensembl
rs2136811248	533	C>Y		No	Ensembl
rs2136811258	534	N>I		No	Ensembl
rs2136811258	534	N>T		No	Ensembl
rs957099511	536	L>M		No	TOPMed
rs957099511	536	L>V		No	TOPMed
rs1565859497	537	N>K		No	Ensembl
rs774380215	537	N>S		No	ExAC gnomAD
rs2136811308	538	G>E		No	Ensembl
COSM6073091 COSM549240 COSM6073090 COSM1648982 rs1364442803	541	R>*	lung Variant assessed as Somatic; HIGH impact. [Cosmic, NCI-TCGA]	No	cosmic curated NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
COSM4150242 COSM4150243 rs1364442803	541	R>G	ovary [Cosmic]	No	cosmic curated TOPMed gnomAD
rs759562930	541	R>P		No	ExAC TOPMed gnomAD
rs759562930	541	R>Q		No	ExAC TOPMed gnomAD
rs2136812069	542	E>G		No	Ensembl
COSM1645708 COSM468649 rs865997470	544	A>V	kidney [Cosmic]	No	cosmic curated gnomAD
rs1175233348	545	H>R		No	TOPMed
rs2136812090	546	E>G		No	Ensembl
rs2136812090	546	E>V		No	Ensembl
rs267603578	547	A>P		No	gnomAD
rs267603578	547	A>T		No	gnomAD
rs1009963510	548	E>G		No	TOPMed gnomAD
rs762488062	548	E>K		No	ExAC TOPMed gnomAD
rs762488062	548	E>Q		No	ExAC TOPMed gnomAD
rs2136812123	549	C>S		No	Ensembl
rs569403749	550	F>L		No	1000Genomes ExAC gnomAD
rs751025983	551	S>A		No	ExAC gnomAD
rs201942735	551	S>F		No	1000Genomes ExAC TOPMed gnomAD
rs751025983	551	S>T		No	ExAC gnomAD
rs2136812159	552	C>S		No	Ensembl
rs2136812159	552	C>Y		No	Ensembl
rs1178034903	553	H>D		No	gnomAD
rs2136812180	553	H>L		No	Ensembl
rs1399363291	554	P>A		No	TOPMed gnomAD
rs370634710 COSM1638331 COSM1638330	554	P>L	Variant assessed as Somatic; MODERATE impact. bone [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs370634710	554	P>Q		No	ESP ExAC TOPMed gnomAD
rs1399363291	554	P>S		No	TOPMed gnomAD
TCGA novel	555	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs998051593	555	E>Q		No	TOPMed
rs2136812212	556	C>Y		No	Ensembl
rs1868815795	557	Q>*		No	Ensembl
rs1868815904	557	Q>H		No	Ensembl
rs755509709	558	P>L		No	ExAC gnomAD
rs1029381580	558	P>S		No	TOPMed gnomAD
rs1592229562	559	M>L		No	Ensembl
rs866804193	559	M>T		No	Ensembl
rs2136812251	560	E>G		No	Ensembl
rs2136812262	561	G>D		No	Ensembl
rs202048840	561	G>S		No	TOPMed
rs2136812262	561	G>V		No	Ensembl
rs2136812277	562	T>I		No	Ensembl
rs2136812271	562	T>S		No	Ensembl
rs1434437769	563	A>D		No	TOPMed gnomAD
rs1868816600	563	A>T		No	Ensembl
rs1434437769	563	A>V		No	TOPMed gnomAD
rs2136812306	565	C>Y		No	Ensembl
rs1868816898	566	N>S		No	TOPMed gnomAD
rs2136812324	567	G>D		No	Ensembl
COSM1363002 rs748595358 COSM1363003	568	S>L	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD
rs2136812337	568	S>P		No	Ensembl
rs748595358	568	S>W		No	ExAC gnomAD
rs368322587	569	G>R		No	ESP ExAC gnomAD
rs1450684293	569	G>V		No	gnomAD
rs1323166967	570	S>C		No	TOPMed gnomAD
rs2136812751	572	T>N		No	Ensembl
rs2136812751	572	T>S		No	Ensembl
rs758858051	573	C>F		No	ExAC TOPMed gnomAD
rs758858051	573	C>S		No	ExAC TOPMed gnomAD
rs758858051	573	C>Y		No	ExAC TOPMed gnomAD
rs2136812777	574	A>T		No	Ensembl
rs1555212089	574	A>V		No	Ensembl
rs370896872	575	Q>E		No	TOPMed gnomAD
rs1438390007	575	Q>R		No	gnomAD
rs748808887	576	C>Y		No	Ensembl
rs141636701	577	A>T		No	ESP ExAC TOPMed gnomAD
rs2136812823	577	A>V		No	Ensembl
rs2136812846	578	H>N		No	Ensembl
rs2136812851	578	H>R		No	Ensembl
rs1390370073	579	F>V		No	gnomAD
COSM3463325 rs371577741 COSM3463324	580	R>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD
rs200350558	580	R>P		No	1000Genomes
rs200350558	580	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes NCI-TCGA
COSM4471903 COSM4471904	583	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM3812527 COSM3812528	583	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1868827434	583	P>T		No	TOPMed
TCGA novel	584	H>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1330988114	586	V>L		No	TOPMed gnomAD
rs2136812922	587	S>N		No	Ensembl
rs2136812940	588	S>N		No	Ensembl
rs2136812940	588	S>T		No	Ensembl
rs2136812961	589	C>Y		No	Ensembl
COSM1192239 COSM1322374 rs865824076	590	P>L	ovary Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated Ensembl NCI-TCGA
rs1308381015	591	H>Q		No	gnomAD
rs1225064464	591	H>R		No	gnomAD
rs769847060	591	H>Y		No	ExAC gnomAD
COSM4842777 COSM4842776	592	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs775624369	592	G>R		No	ExAC TOPMed gnomAD
COSM5294475 COSM5294474	593	V>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	593	V>missing	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2136813005	593	V>D		No	Ensembl
rs1290483659	596	A>T		No	TOPMed
rs774044496	598	G>D		No	ExAC gnomAD
rs774044496	598	G>V		No	ExAC gnomAD
rs1868829118	599	P>T		No	TOPMed
COSM4990287 COSM4990288	600	I>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2136813086	600	I>V		No	Ensembl
rs761478277	601	Y>C		No	ExAC TOPMed gnomAD
rs1592229701	603	Y>S		No	Ensembl
rs1177447452	605	D>H		No	gnomAD
rs772678619	607	Q>*		No	ExAC gnomAD
COSM3812530 COSM3812529	607	Q>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1565859706	607	Q>R		No	Ensembl
rs760246763	610	C>*		No	ExAC gnomAD
rs903836627	610	C>R		No	Ensembl
rs760246763	610	C>W		No	ExAC gnomAD
rs373609369	611	R>G		No	ESP ExAC TOPMed gnomAD
rs2136813198	611	R>Q		No	Ensembl
rs373609369	611	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs2136813220	612	P>S		No	Ensembl
rs1470689743	613	C>*		No	TOPMed
rs200574817	614	H>D		No	1000Genomes
rs143726790	615	E>K		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1868830870	617	C>R		No	TOPMed
rs757518347	618	T>I		No	ExAC TOPMed gnomAD
rs757518347	618	T>S		No	ExAC TOPMed gnomAD
rs2136814470	621	C>S		No	Ensembl
COSM694515 COSM1646531	623	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2136814489	624	P>A		No	Ensembl
rs151083303	624	P>R		No	ESP ExAC TOPMed gnomAD
rs756434433	625	E>K		No	ExAC gnomAD
rs780132789	627	Q>*		No	ExAC gnomAD
rs1208664961	627	Q>H		No	TOPMed gnomAD
rs1868853560	628	D>N		No	Ensembl
rs1868853664	631	G>A		No	TOPMed
rs1868853664	631	G>E		No	TOPMed
rs544678821	632	Q>E		No	1000Genomes ExAC TOPMed gnomAD
rs544678821	632	Q>K		No	1000Genomes ExAC TOPMed gnomAD
rs778783934	634	L>V		No	ExAC TOPMed gnomAD
rs141054346	635	V>M		No	1000Genomes ESP ExAC TOPMed gnomAD
rs2136814606	636	L>P		No	Ensembl
rs2136814594	636	L>V		No	Ensembl
rs150262923	637	I>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA
rs150262923	637	I>M		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1200363001 COSM549239 COSM1648981 COSM6073089 COSM6073088	638	G>C	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	cosmic curated NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
rs2136814634	638	G>D		No	Ensembl
rs1200363001	638	G>S		No	TOPMed gnomAD
rs753940174	640	T>I		No	ExAC TOPMed gnomAD
rs753940174	640	T>N		No	ExAC TOPMed gnomAD
rs1868864762	640	T>S		No	Ensembl
rs2136815325	641	H>N		No	Ensembl
rs2136815337	642	L>M		No	Ensembl
rs371005132	642	L>P		No	ESP ExAC TOPMed gnomAD
COSM1646530 COSM694514	642	L>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs752570404	643	T>P		No	ExAC gnomAD
rs1433836733	644	M>L		No	gnomAD
rs758350871	644	M>T		No	ExAC gnomAD
rs2136815391	645	A>T		No	Ensembl
rs1868865471	647	T>I		No	TOPMed
rs1868865471	647	T>K		No	TOPMed
rs1565859968	648	V>M		No	Ensembl
rs772987101	650	A>E		No	Ensembl
rs2136815447	651	G>V		No	Ensembl
rs1307780742	653	V>G		No	TOPMed gnomAD
rs746842107	657	M>T		No	ExAC gnomAD
rs1868866317	657	M>V		No	Ensembl
rs2136815510	658	M>I		No	Ensembl
rs1292460026	658	M>L		No	gnomAD
rs756926213	658	M>T		No	ExAC gnomAD
rs369758674	660	G>A		No	ESP ExAC TOPMed gnomAD
rs2136815558	661	G>D		No	Ensembl
rs139022684	661	G>S		No	ESP ExAC TOPMed gnomAD
rs1565859985	662	T>I		No	TOPMed gnomAD
rs1565859985	662	T>S		No	TOPMed gnomAD
rs1182292847	665	Y>C		No	gnomAD
rs1182292847	665	Y>F		No	gnomAD
rs2136815630	666	W>*		No	Ensembl
rs1228585448	666	W>R		No	TOPMed gnomAD
rs775164134	667	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
COSM1677075 COSM1677076 rs1403278713	667	R>H	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
COSM1476737 COSM1476736	667	R>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM3772686 COSM3772685	667	R>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs200724560	669	R>C		No	1000Genomes ExAC gnomAD
COSM1363004 COSM1363005 rs772747085	669	R>H	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs773690291	670	R>G		No	ExAC gnomAD
rs761002408	670	R>Q		No	ExAC TOPMed gnomAD
rs773690291	670	R>W		No	ExAC gnomAD
COSM4043459 COSM4043458	671	I>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1186294515	672	Q>E		No	TOPMed gnomAD
rs1186294515	672	Q>K		No	TOPMed gnomAD
rs1453938942	673	N>I		No	gnomAD
rs908433040	674	K>I		No	TOPMed
rs373838865	674	K>N		No	ESP ExAC TOPMed gnomAD
rs2136815736	675	R>G		No	Ensembl
rs2136815749	676	A>D		No	Ensembl
rs958100134	676	A>S		No	TOPMed
COSM4852731 COSM4852732	677	M>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1868869833	677	M>K		No	TOPMed gnomAD
rs1868869667	677	M>L		No	TOPMed
rs1868869667	677	M>V		No	TOPMed
COSM6073086 COSM6073087	678	R>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1377374701	679	R>*		No	TOPMed gnomAD
COSM3710794 COSM3710795 rs2136815800	679	R>Q	upper_aerodigestive_tract Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs2136815826	680	Y>*		No	Ensembl
rs1227980120	680	Y>C		No	gnomAD
rs2136815810	680	Y>D		No	Ensembl
rs1227980120	680	Y>F		No	gnomAD
rs1868870616	682	E>K		No	Ensembl
rs56387488	683	R>G		No	ESP gnomAD
rs765179217	683	R>L		No	ExAC TOPMed gnomAD
rs765179217	683	R>Q		No	ExAC TOPMed gnomAD
rs56387488 VAR_042105	683	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	UniProt ESP NCI-TCGA dbSNP gnomAD
rs764063127	684	G>D		No	ExAC gnomAD
rs758297377	684	G>R		No	ExAC TOPMed gnomAD
rs758297377	684	G>S		No	ExAC TOPMed gnomAD
rs1051947867	686	S>I		No	TOPMed gnomAD
rs138548737	686	S>R		No	ESP gnomAD
rs1868892942	687	I>V		No	Ensembl
rs2136817076	688	E>D		No	Ensembl
rs777073878	689	P>L		No	ExAC
rs2136817081	689	P>T		No	Ensembl
rs759635172	691	D>H		No	ExAC TOPMed gnomAD
rs759635172	691	D>N		No	ExAC TOPMed gnomAD
rs2136817115	691	D>V		No	Ensembl
rs181659329	692	P>H		No	1000Genomes ExAC TOPMed gnomAD
rs181659329	692	P>R		No	1000Genomes ExAC TOPMed gnomAD
rs1868893962	693	S>G		No	TOPMed
rs763091526	693	S>T		No	ExAC gnomAD
TCGA novel	694	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1868894160	694	E>D		No	TOPMed
rs2136817134	694	E>K		No	Ensembl
rs2136817143 COSM1734890 COSM1734891	695	K>N	pancreas [Cosmic]	No	cosmic curated Ensembl
TCGA novel	695	K>missing	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1868894306	696	A>D		No	Ensembl
TCGA novel	697	N>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs368508813	698	K>E		No	ESP ExAC TOPMed gnomAD
rs2136817155	699	V>D		No	Ensembl
rs2136817173	701	A>D		No	Ensembl
rs2136817173	701	A>V		No	Ensembl
rs2136817181	702	R>K		No	Ensembl
rs1438786250	703	I>N		No	gnomAD
rs1438786250	703	I>S		No	gnomAD
rs1438786250	703	I>T		No	gnomAD
rs2136817205	704	F>Y		No	Ensembl
rs2136817213	705	K>R		No	Ensembl
TCGA novel	706	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs767179070	706	E>D		No	ExAC TOPMed gnomAD
rs371866354	706	E>K		No	ESP ExAC TOPMed gnomAD
rs371866354	706	E>Q		No	ESP ExAC TOPMed gnomAD
rs2136817230	706	E>V		No	Ensembl
rs1277922704	707	T>A		No	TOPMed
rs2136817244	708	E>K		No	Ensembl
rs1409213710	711	K>R		No	TOPMed gnomAD
VAR_042106 rs35961836	717	S>L		No	UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs2136817270	717	S>T		No	Ensembl
rs35961836	717	S>W		No	1000Genomes ESP ExAC TOPMed gnomAD
rs2136817290	718	G>C		No	Ensembl
rs2136817295	718	G>D		No	Ensembl
rs2136817302	719	V>I		No	Ensembl
rs2136817310	720	F>I		No	Ensembl
rs779910792	720	F>L		No	ExAC gnomAD
rs2136817324	721	G>A		No	Ensembl
rs2136817330	722	T>I		No	Ensembl
rs2136817349	723	V>E		No	Ensembl
rs189789018	723	V>L		No	1000Genomes ExAC TOPMed gnomAD
rs189789018	723	V>M		No	1000Genomes ExAC TOPMed gnomAD
rs2136817363	724	H>L		No	Ensembl
rs2136817358	724	H>N		No	Ensembl
rs2136817358 COSM1718760 COSM1718761	724	H>Y	NS [Cosmic]	No	cosmic curated Ensembl
rs1477990576	725	K>N		No	gnomAD
rs1431427466	725	K>R		No	TOPMed
TCGA novel	726	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs752289630	727	V>L		No	ExAC gnomAD
rs1868902175	731	E>K		No	TOPMed gnomAD
rs757680970	732	G>S		No	ExAC gnomAD
rs2136817676	735	I>F		No	Ensembl
rs2136817681	735	I>M		No	Ensembl
rs1868902577	736	K>E		No	gnomAD
rs1282110952	736	K>N		No	gnomAD
rs1333701816	737	I>V		No	gnomAD
rs2136817698	738	P>S		No	Ensembl
rs2136817698	738	P>T		No	Ensembl
rs1259368470	742	K>N		No	gnomAD
rs922150399	742	K>R		No	TOPMed gnomAD
rs1456830039	743	V>I		No	TOPMed gnomAD
rs55787439 VAR_042107	744	I>T		No	UniProt ExAC TOPMed dbSNP gnomAD
rs2136817735	746	D>E		No	Ensembl
rs770870486	750	R>Q		No	ExAC TOPMed gnomAD
COSM1578972 rs373831196 COSM1578971	750	R>W	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	751	Q>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs774273587	751	Q>R		No	ExAC TOPMed gnomAD
rs2136817772	752	S>N		No	Ensembl
TCGA novel rs1592230524	752	S>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs2136817783	754	Q>E		No	Ensembl
rs748319015	754	Q>H		No	ExAC TOPMed gnomAD
rs771899301	755	A>V		No	ExAC gnomAD
rs773134874	757	T>I		No	ExAC gnomAD
rs776486535	758	D>G		No	TOPMed gnomAD
rs3891921	758	D>H		No	ExAC gnomAD
rs3891921	758	D>N		No	ExAC gnomAD
rs3891921	758	D>Y		No	ExAC gnomAD
TCGA novel	759	H>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs759458720	760	M>I		No	ExAC TOPMed gnomAD
rs764788295	761	L>P		No	ExAC TOPMed gnomAD
rs775138327	762	A>P		No	ExAC TOPMed gnomAD
rs775138327	762	A>T		No	ExAC TOPMed gnomAD
rs895676627	763	I>V		No	Ensembl
rs2136818337	764	G>D		No	Ensembl
rs1191858622	765	S>I		No	gnomAD
rs2136818366	767	D>G		No	Ensembl
COSM3368881 COSM3368880	768	H>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1868913125	769	A>T		No	gnomAD
rs1868913219	769	A>V		No	Ensembl
rs371109792	770	H>Y		No	ESP ExAC TOPMed gnomAD
rs1383939682	771	I>L		No	TOPMed gnomAD
rs1383939682	771	I>V		No	TOPMed gnomAD
rs2136818411	772	V>I		No	Ensembl
rs763623076	773	R>K		No	ExAC gnomAD
rs2136818419	773	R>S		No	Ensembl
rs2136818445	776	G>A		No	Ensembl
rs2136818439	776	G>R		No	Ensembl
rs2136818461	778	C>*		No	Ensembl
rs1394377817	778	C>R		No	gnomAD
rs1868914271	779	P>A		No	TOPMed
rs202221237	780	G>E		No	1000Genomes ExAC TOPMed gnomAD
rs202221237	780	G>V		No	1000Genomes ExAC TOPMed gnomAD
rs1486612893	781	S>P		No	TOPMed
rs1272312606	782	S>T		No	Ensembl
COSM431479 COSM1476738	783	L>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1022874756	784	Q>E		No	TOPMed gnomAD
rs766932138	785	L>F		No	ExAC gnomAD
rs1293613422	786	V>I		No	gnomAD
rs1342557300	787	T>I		No	TOPMed gnomAD
rs2136818521	788	Q>K		No	Ensembl
rs1369051926	791	P>S		No	TOPMed gnomAD
COSM431480 COSM1476739	792	L>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1303381079	794	S>F		No	gnomAD
rs1868915853	795	L>R		No	gnomAD
rs144510847	795	L>V		No	1000Genomes ESP ExAC TOPMed gnomAD
rs2136818554	796	L>M		No	Ensembl
rs2136818554	796	L>V		No	Ensembl
rs758578409	797	D>G		No	ExAC gnomAD
rs2136818568	797	D>H		No	Ensembl
rs2136818577	798	H>Y		No	Ensembl
rs1284248937	799	V>M		No	gnomAD
rs2136818588	800	R>K		No	Ensembl
rs2136818588	800	R>T		No	Ensembl
rs777968329	801	Q>K		No	ExAC TOPMed gnomAD
rs1868916368	802	H>P		No	TOPMed
rs375732870	802	H>Q		No	ESP TOPMed
rs148448153	802	H>Y		No	ESP gnomAD
rs770976516	803	R>P		No	ExAC TOPMed gnomAD
rs770976516	803	R>Q		No	ExAC TOPMed gnomAD
rs747131244	803	R>W		No	ExAC TOPMed gnomAD
rs182154425	804	G>E		No	1000Genomes ExAC TOPMed gnomAD
rs1868917060	804	G>R		No	TOPMed gnomAD
rs182154425	804	G>V		No	1000Genomes ExAC TOPMed gnomAD
rs1565860436	805	A>G	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
COSM1363008 COSM1363009	805	A>H	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs80185484	805	A>P		No	Ensembl
rs80185484	805	A>T		No	Ensembl
rs745801537	805	A>V		No	ExAC TOPMed gnomAD
rs2136818687	807	G>E		No	Ensembl
rs2136818705	808	P>T		No	Ensembl
rs2136818718	809	Q>*		No	Ensembl
rs2136818723	809	Q>H		No	Ensembl
rs931676601	809	Q>L		No	Ensembl
rs1868918180	810	L>M		No	TOPMed
rs2136818746	812	L>F		No	Ensembl
rs2136818750	812	L>H		No	Ensembl
rs775183935	814	W>*		No	ExAC gnomAD
rs2136818756	814	W>C		No	Ensembl
rs1405440220	815	G>A		No	TOPMed gnomAD
rs1405440220	815	G>E		No	TOPMed gnomAD
rs1418183010	816	V>I		No	gnomAD
rs1418183010	816	V>L		No	gnomAD
rs762638258	818	I>T		No	ExAC TOPMed gnomAD
rs1459451822	819	A>D		No	gnomAD
rs1459451822	819	A>G		No	gnomAD
rs1351237064	819	A>T		No	gnomAD
rs1459451822	819	A>V		No	gnomAD
rs2136818795	820	K>M		No	Ensembl
COSM1586600 COSM941495	820	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2136819708	821	G>*		No	Ensembl
rs2136819708	821	G>R		No	Ensembl
rs769661725	822	M>I		No	ExAC TOPMed gnomAD
rs1349788417	822	M>K		No	TOPMed
rs1349788417	822	M>R		No	TOPMed
rs2136819745	823	Y>*		No	Ensembl
rs1868937789	823	Y>C		No	Ensembl
rs1868937789	823	Y>F		No	Ensembl
rs2136819734	823	Y>N		No	Ensembl
rs1868937789	823	Y>S		No	Ensembl
rs201892971	824	Y>*		No	1000Genomes
rs2136819758	824	Y>C		No	Ensembl
rs2136819758	824	Y>F		No	Ensembl
rs2136819755	824	Y>H		No	Ensembl
rs576617052	825	L>F		No	1000Genomes ExAC TOPMed gnomAD
rs576617052	825	L>I		No	1000Genomes ExAC TOPMed gnomAD
rs754433840	825	L>P		No	Ensembl
rs576617052	825	L>V		No	1000Genomes ExAC TOPMed gnomAD
rs2136819787	826	E>Q		No	Ensembl
rs2136819791	826	E>V		No	Ensembl
rs2136819812	827	E>D		No	Ensembl
rs2136819796	827	E>K		No	Ensembl
rs2136819796	827	E>Q		No	Ensembl
rs2136819805	827	E>V		No	Ensembl
rs1868938273	828	H>D		No	TOPMed
rs749096091	828	H>L		No	ExAC TOPMed gnomAD
rs1868938273	828	H>N		No	TOPMed
rs749096091	828	H>R		No	ExAC TOPMed gnomAD
rs1868938273	828	H>Y		No	TOPMed
rs1868938647	829	G>A		No	TOPMed
rs2136819840	829	G>C		No	Ensembl
rs1868938647	829	G>D		No	TOPMed
rs1868938647	829	G>V		No	TOPMed
rs2136819856	830	M>I		No	Ensembl
rs1868938868	830	M>V		No	gnomAD
rs1565860646	831	V>A		No	Ensembl
rs1565860646	831	V>E		No	Ensembl
rs2136819860	831	V>L		No	Ensembl
rs2136819860	831	V>M		No	Ensembl
rs2136819873	832	H>D		No	Ensembl
rs543742419	832	H>Q		No	1000Genomes ExAC gnomAD
rs1210627214	833	R>G		No	gnomAD
rs2136819884	833	R>I		No	Ensembl
rs2136819884	833	R>T		No	Ensembl
rs2136819892	835	L>M		No	Ensembl
rs2136819892	835	L>V		No	Ensembl
rs2136819915	836	A>G		No	Ensembl
rs2136819905	836	A>P		No	Ensembl
rs2136819905	836	A>S		No	Ensembl
rs2136819905	836	A>T		No	Ensembl
rs2136819933	837	A>D		No	Ensembl
rs2136819933	837	A>G		No	Ensembl
rs2136819926	837	A>P		No	Ensembl
rs2136819926	837	A>S		No	Ensembl
rs2136819926	837	A>T		No	Ensembl
rs2136819933	837	A>V		No	Ensembl
rs1565860652	838	R>*		No	TOPMed
rs771520731	838	R>P		No	ExAC TOPMed gnomAD
rs771520731	838	R>Q		No	ExAC TOPMed gnomAD
rs2136819959	839	N>I		No	Ensembl
rs558851810	839	N>K		No	1000Genomes ExAC gnomAD
rs2136819959	839	N>S		No	Ensembl
rs2136819959	839	N>T		No	Ensembl
rs2136819977	840	V>A		No	Ensembl
rs2136819977	840	V>E		No	Ensembl
rs576402458	840	V>L		No	1000Genomes TOPMed gnomAD
rs576402458	840	V>M		No	1000Genomes TOPMed gnomAD
rs2136819990	841	L>Q		No	Ensembl
rs2136819985	841	L>V		No	Ensembl
rs2136819999	842	L>F		No	Ensembl
rs760055268	842	L>H		No	ExAC gnomAD
rs2136819999	842	L>I		No	Ensembl
rs760055268	842	L>P		No	ExAC gnomAD
rs760055268	842	L>R		No	ExAC gnomAD
rs2136819999	842	L>V		No	Ensembl
rs2136820029	843	K>*		No	Ensembl
rs2136820033	843	K>M		No	Ensembl
TCGA novel rs201149603	843	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ExAC TOPMed gnomAD NCI-TCGA
rs2136820033	843	K>R		No	Ensembl
rs2136820049	844	S>*		No	Ensembl
rs2136820049	844	S>L		No	Ensembl
rs147206496	845	P>A		No	ESP ExAC TOPMed gnomAD
rs2136820062	845	P>H		No	Ensembl
rs2136820062	845	P>L		No	Ensembl
rs2136820062	845	P>R		No	Ensembl
rs147206496	845	P>S		No	ESP ExAC TOPMed gnomAD
rs764554418	846	S>C		No	ExAC gnomAD
rs764554418	846	S>G		No	ExAC gnomAD
COSM176613 rs2136820086 COSM4681518	846	S>I	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs2136820086	846	S>N		No	Ensembl
rs764554418	846	S>R		No	ExAC gnomAD
rs2136820096	846	S>R		No	Ensembl
rs2136820086	846	S>T		No	Ensembl
rs2136820100	847	Q>*		No	Ensembl
rs2136820100	847	Q>E		No	Ensembl
rs751770045	847	Q>H		No	ExAC TOPMed gnomAD
rs1868940472	847	Q>R		No	TOPMed
rs2136820116	848	V>A		No	Ensembl
rs2136820116	848	V>D		No	Ensembl
rs2136820111	848	V>I		No	Ensembl
rs2136820111	848	V>L		No	Ensembl
rs2136820122	849	Q>*		No	Ensembl
rs2136820122	849	Q>E		No	Ensembl
rs2136820134	849	Q>H		No	Ensembl
rs2136820122	849	Q>K		No	Ensembl
rs1868940766	849	Q>L		No	TOPMed
rs1868940766	849	Q>R		No	TOPMed
rs1868940863	850	V>G		No	TOPMed
rs2136820139	850	V>L		No	Ensembl
rs2136820139	850	V>M		No	Ensembl
rs781394944	851	A>E		No	ExAC gnomAD
rs781394944	851	A>G		No	ExAC gnomAD
rs2136820147	851	A>P		No	Ensembl
rs2136820147	851	A>S		No	Ensembl
rs2136820147	851	A>T		No	Ensembl
rs781394944	851	A>V		No	ExAC gnomAD
rs1477222949	852	D>E		No	TOPMed gnomAD
rs1868941154	852	D>H		No	TOPMed
rs1868941154	852	D>N		No	TOPMed
rs2136820178	853	F>I		No	Ensembl
rs2136820187	854	G>A		No	Ensembl
rs1868941354	854	G>C		No	gnomAD
rs2136820187	854	G>D		No	Ensembl
rs1868941354	854	G>R		No	gnomAD
rs1868941354	854	G>S		No	gnomAD
rs2136820187	854	G>V		No	Ensembl
rs2136820198	855	V>M		No	Ensembl
rs2136820211	856	A>D		No	Ensembl
rs2136820211	856	A>G		No	Ensembl
rs2136820204	856	A>P		No	Ensembl
rs2136820204	856	A>S		No	Ensembl
rs2136820204	856	A>T		No	Ensembl
rs2136820211	856	A>V		No	Ensembl
rs1592230949	857	D>A		No	Ensembl
rs2136820226	857	D>E		No	Ensembl
rs1592230949	857	D>G		No	Ensembl
rs1219696574	857	D>H		No	TOPMed gnomAD
rs1219696574	857	D>N		No	TOPMed gnomAD
rs1592230949	857	D>V		No	Ensembl
rs2136820237	858	L>Q		No	Ensembl
rs2136820244	859	L>M		No	Ensembl
rs2136820253	859	L>Q		No	Ensembl
rs2136820244	859	L>V		No	Ensembl
rs1565860687	860	P>A		No	Ensembl
rs2136820268	860	P>H		No	Ensembl
TCGA novel	860	P>L	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1565860687	860	P>S		No	Ensembl
rs1565860687	860	P>T		No	Ensembl
rs2136820273	861	P>A		No	Ensembl
rs2136820278	861	P>H		No	Ensembl
rs2136820278	861	P>R		No	Ensembl
rs2136820290	862	D>H		No	Ensembl
rs2136820290	862	D>N		No	Ensembl
rs2136820292	862	D>V		No	Ensembl
TCGA novel	863	D>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2136820297	863	D>H		No	Ensembl
rs2136820297	863	D>N		No	Ensembl
rs756068516	864	K>E		No	ExAC gnomAD
rs1286367261	864	K>M		No	gnomAD
rs2136820327	864	K>N		No	Ensembl
rs2136820332	865	Q>*		No	Ensembl
rs2136820332	865	Q>E		No	Ensembl
rs779924065	865	Q>H		No	ExAC TOPMed gnomAD
rs2136820340	865	Q>L		No	Ensembl
rs2136820364	866	L>Q		No	Ensembl
rs140606920	866	L>V		No	ESP gnomAD
rs2136820375	867	L>I		No	Ensembl
rs1868942708	867	L>Q		No	Ensembl
rs2136820398	868	Y>*		No	Ensembl
rs2136820391	868	Y>F		No	Ensembl
rs749255674	868	Y>H		No	ExAC TOPMed gnomAD
rs749255674	868	Y>N		No	ExAC TOPMed gnomAD
rs2136820391	868	Y>S		No	Ensembl
rs143021252	869	S>N		No	1000Genomes gnomAD
rs2136820442	870	E>G		No	Ensembl
rs1328406335	870	E>K		No	Ensembl
rs1434533672	871	A>D		No	gnomAD
rs1434533672	871	A>G		No	gnomAD
rs778703567	871	A>S		No	ExAC gnomAD
rs1434533672	871	A>V		No	gnomAD
rs1307557023	872	K>M		No	TOPMed gnomAD
rs2136820487	872	K>N		No	Ensembl
rs1307557023	872	K>R		No	TOPMed gnomAD
rs1307557023	872	K>T		No	TOPMed gnomAD
rs2136821644	873	T>I		No	Ensembl
rs746673930	875	I>F		No	ExAC TOPMed gnomAD
rs746673930	875	I>V		No	ExAC TOPMed gnomAD
rs867439304	878	M>V		No	gnomAD
rs982018467	879	A>S		No	gnomAD
rs982018467	879	A>T		No	gnomAD
rs2136821657	880	L>I		No	Ensembl
rs377181290	881	E>D		No	ESP ExAC TOPMed gnomAD
rs1278635698	881	E>K		No	TOPMed gnomAD
rs2136821670	883	I>V		No	Ensembl
rs1437489759	885	F>C		No	TOPMed gnomAD
rs1437489759	885	F>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs2136821685	888	Y>H		No	Ensembl
TCGA novel	890	H>R	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1270667325	891	Q>K		No	gnomAD
rs1468432119	891	Q>P		No	gnomAD
rs1354399673	894	V>A		No	TOPMed gnomAD
rs1868974265	896	S>R		No	gnomAD
rs1436469944	897	Y>C		No	gnomAD
rs1488733357	898	G>A		No	gnomAD
rs1488733357 COSM191842	898	G>D	large_intestine [Cosmic]	No	cosmic curated gnomAD
rs1292738827	898	G>S		No	TOPMed gnomAD
rs1488733357	898	G>V		No	gnomAD
rs2136822204	899	V>E		No	Ensembl
rs2136822199	899	V>L		No	Ensembl
rs2136822210	900	T>A		No	Ensembl
rs2136822218	900	T>I		No	Ensembl
rs2136822218	900	T>R		No	Ensembl
rs2136822210	900	T>S		No	Ensembl
rs2136822241	901	V>D		No	Ensembl
rs2136822241	901	V>G		No	Ensembl
rs765301443	901	V>I		No	ExAC TOPMed gnomAD
rs765301443	901	V>L		No	ExAC TOPMed gnomAD
rs2136822272	902	W>*		No	Ensembl
rs2136822272	902	W>C		No	Ensembl
rs2136822256	902	W>L		No	Ensembl
rs2136822256	902	W>S		No	Ensembl
rs1452826872	903	E>*		No	TOPMed
rs2136822291	903	E>G		No	Ensembl
rs1452826872	903	E>K		No	TOPMed
rs1452826872	903	E>Q		No	TOPMed
rs2136822291	903	E>V		No	Ensembl
rs2136822315	904	L>F		No	Ensembl
rs763753546	904	L>M		No	ExAC TOPMed gnomAD
rs2136822310	904	L>S		No	Ensembl
rs763753546	904	L>V		No	ExAC TOPMed gnomAD
rs2136822310	904	L>W		No	Ensembl
rs2136822343	905	M>I		No	Ensembl
rs2136822324	905	M>L		No	Ensembl
rs751422999	905	M>R		No	ExAC gnomAD
rs751422999	905	M>T		No	ExAC gnomAD
rs2136822324	905	M>V		No	Ensembl
rs2136822348	906	T>A		No	Ensembl
rs371250480	906	T>S		No	ESP ExAC TOPMed gnomAD
rs2136822362	907	F>I		No	Ensembl
rs780969100	907	F>L		No	ExAC TOPMed gnomAD
rs2136822364	907	F>Y		No	Ensembl
rs2136822381	908	G>A		No	Ensembl
rs2136822381	908	G>E		No	Ensembl
rs776280433	908	G>R		No	TOPMed gnomAD
rs2136822381	908	G>V		No	Ensembl
rs776280433	908	G>W		No	TOPMed gnomAD
rs2136822404	909	A>G		No	Ensembl
rs1868983417	909	A>P		No	gnomAD
rs1868983417	909	A>S		No	gnomAD
rs1868983417	909	A>T		No	gnomAD
rs2136822404	909	A>V		No	Ensembl
rs1565861010	910	E>D		No	Ensembl
rs2136822419	910	E>G		No	Ensembl
rs2136822414	910	E>K		No	Ensembl
rs2136822419	910	E>V		No	Ensembl
rs2136822440	911	P>H		No	Ensembl
rs2136822440	911	P>L		No	Ensembl
rs2136822440	911	P>R		No	Ensembl
rs750109086	911	P>T		No	ExAC gnomAD
rs2136822453	912	Y>*		No	Ensembl
rs1868983686	912	Y>C		No	TOPMed
rs1868983686	912	Y>F		No	TOPMed
rs1868983686	912	Y>S		No	TOPMed
rs2136822463	913	A>G		No	Ensembl
rs144558290	913	A>P		No	ESP ExAC TOPMed gnomAD
rs144558290	913	A>T		No	ESP ExAC TOPMed gnomAD
rs2136822463	913	A>V		No	Ensembl
rs1284695654	914	G>A		No	TOPMed
rs1284695654	914	G>E		No	TOPMed
rs1284695654	914	G>V		No	TOPMed
rs1868983999	915	L>I		No	TOPMed
rs2136822514	915	L>P		No	Ensembl
rs2136822514	915	L>Q		No	Ensembl
rs1868983999	915	L>V		No	TOPMed
rs748627495	916	R>*		No	ExAC gnomAD
rs548359026	916	R>L		No	1000Genomes ExAC TOPMed gnomAD
rs548359026	916	R>P		No	1000Genomes ExAC TOPMed gnomAD
rs548359026	916	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1373825336	917	L>*		No	gnomAD
rs2136822560	917	L>F		No	Ensembl
rs375212605	917	L>M		No	ESP ExAC TOPMed gnomAD
rs1373825336	917	L>S		No	gnomAD
rs375212605	917	L>V		No	ESP ExAC TOPMed gnomAD
rs1373825336	917	L>W		No	gnomAD
rs2136822586	918	A>D		No	Ensembl
rs2136822586	918	A>G		No	Ensembl
rs2136822567	918	A>P		No	Ensembl
rs2136822567	918	A>S		No	Ensembl
rs2136822567	918	A>T		No	Ensembl
rs2136822586	918	A>V		No	Ensembl
rs2136822603	919	E>K		No	Ensembl
rs2136822603	919	E>Q		No	Ensembl
rs2136822615	919	E>V		No	Ensembl
rs2136822640	920	V>E		No	Ensembl
rs2136822640	920	V>G		No	Ensembl
rs2136822631	920	V>I		No	Ensembl
rs2136822631	920	V>L		No	Ensembl
rs1868984566	921	P>A		No	gnomAD
rs2136822649	921	P>L		No	Ensembl
rs2136822649	921	P>Q		No	Ensembl
rs2136822649	921	P>R		No	Ensembl
rs1868984566	921	P>S		No	gnomAD
rs1868984566	921	P>T		No	gnomAD
rs2136822674	922	D>A		No	Ensembl
rs747462791	922	D>E		No	ExAC gnomAD
rs2136822674	922	D>G		No	Ensembl
rs2136822661	922	D>H		No	Ensembl
rs2136822661	922	D>N		No	Ensembl
rs2136822674	922	D>V		No	Ensembl
TCGA novel	922	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1441156203	923	L>M		No	TOPMed gnomAD
rs2136822689	923	L>P		No	Ensembl
rs2136822689	923	L>Q		No	Ensembl
rs1441156203	923	L>V		No	TOPMed gnomAD
rs2136822697	924	L>I		No	Ensembl
rs2136822697	924	L>V		No	Ensembl
rs2136822717	925	E>K		No	Ensembl
rs2136822717	925	E>Q		No	Ensembl
rs1868985557	926	K>N		No	TOPMed
rs2136822742	927	G>A		No	Ensembl
rs2136822742	927	G>E		No	Ensembl
rs776766992	927	G>R		No	ExAC gnomAD
rs2136822742	927	G>V		No	Ensembl
rs776766992	927	G>W		No	ExAC gnomAD
rs2136822757	928	E>*		No	Ensembl
rs2136822767	928	E>D		No	Ensembl
COSM94228 COSM1363010 rs2136822761	928	E>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs2136822757	928	E>K		No	Ensembl
rs2136822757	928	E>Q		No	Ensembl
rs2136822761	928	E>V		No	Ensembl
rs759764423	929	R>G		No	ExAC gnomAD
TCGA novel	929	R>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs769811937	929	R>Q		No	ExAC TOPMed gnomAD
rs759764423	929	R>W		No	ExAC gnomAD
rs2136822796	930	L>*		No	Ensembl
rs2136822800	930	L>F		No	Ensembl
rs570154608	930	L>M		No	1000Genomes ExAC TOPMed gnomAD
rs2136822796	930	L>S		No	Ensembl
rs570154608	930	L>V		No	1000Genomes ExAC TOPMed gnomAD
rs2136822796	930	L>W		No	Ensembl
rs2136822808	931	A>E		No	Ensembl
rs2136822808	931	A>G		No	Ensembl
rs2136822804	931	A>S		No	Ensembl
rs2136822804 COSM3688331 COSM3688330	931	A>T	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs2136822808	931	A>V		No	Ensembl
rs1868986335	932	Q>*		No	Ensembl
rs1868986335	932	Q>E		No	Ensembl
rs1868986335	932	Q>K		No	Ensembl
rs762765641	932	Q>L		No	ExAC gnomAD
rs762765641	932	Q>P		No	ExAC gnomAD
rs1868986536	933	P>A		No	Ensembl
rs1868986634	933	P>H		No	Ensembl
rs1868986634	933	P>L		No	Ensembl
rs1868986634	933	P>R		No	Ensembl
rs1868986536	933	P>S		No	Ensembl
TCGA novel rs1868986536	933	P>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs2136822854	934	Q>*		No	Ensembl
rs2136822859	934	Q>L		No	Ensembl
rs2136822859	934	Q>R		No	Ensembl
rs764152740	935	I>M		No	ExAC gnomAD
rs2136822873	935	I>N		No	Ensembl
rs2136822873	935	I>S		No	Ensembl
rs2136822906	936	C>*		No	Ensembl
rs2136822899	936	C>F		No	Ensembl
rs2136822895	936	C>R		No	Ensembl
rs2136822899	936	C>S		No	Ensembl
rs2136822895	936	C>S		No	Ensembl
rs2136822906	936	C>W		No	Ensembl
rs2136822899	936	C>Y		No	Ensembl
rs1868987033	937	T>A		No	gnomAD
rs2136822916	937	T>K		No	Ensembl
rs2136822916	937	T>R		No	Ensembl
rs1868987033	937	T>S		No	gnomAD
rs2136822929	938	I>F		No	Ensembl
rs774015628	938	I>N		No	ExAC TOPMed gnomAD
rs774015628	938	I>S		No	ExAC TOPMed gnomAD
rs774015628	938	I>T		No	ExAC TOPMed gnomAD
rs1394203532	939	D>E		No	gnomAD
rs2136822948	939	D>G		No	Ensembl
rs1868987209	939	D>H		No	TOPMed
rs1868987209	939	D>N		No	TOPMed
rs2136822948	939	D>V		No	Ensembl
rs1868987209	939	D>Y		No	TOPMed
rs2136822961	940	V>A		No	Ensembl
rs2136822961	940	V>D		No	Ensembl
rs2136822961	940	V>G		No	Ensembl
rs1868987404	940	V>I		No	gnomAD
rs1868987404	940	V>L		No	gnomAD
rs373474079	941	Y>*		No	ESP ExAC TOPMed gnomAD
rs2136822982	941	Y>F		No	Ensembl
rs2136822976	941	Y>N		No	Ensembl
rs2136822994	942	M>I		No	Ensembl
rs2136822988	942	M>L		No	Ensembl
rs2136822988	942	M>V		No	Ensembl
rs2136823001	943	V>L		No	Ensembl
rs2136823001	943	V>M		No	Ensembl
rs2136823029	944	M>I		No	Ensembl
rs2136823016	944	M>L		No	Ensembl
rs1160895679	944	M>T		No	gnomAD
rs2136823016	944	M>V		No	Ensembl
rs1433201611	945	V>A		No	TOPMed gnomAD
rs1433201611	945	V>D		No	TOPMed gnomAD
rs2136823039	945	V>F		No	Ensembl
rs1433201611	945	V>G		No	TOPMed gnomAD
rs2136823039	945	V>I		No	Ensembl
rs2136823039	945	V>L		No	Ensembl
rs2136823065	946	K>*		No	Ensembl
rs1868987919	946	K>N		No	Ensembl
rs2136823070	946	K>R		No	Ensembl
rs2136823078	947	C>G		No	Ensembl
rs2136823078	947	C>R		No	Ensembl
rs2136823078	947	C>S		No	Ensembl
rs757732235	950	I>M		No	ExAC TOPMed gnomAD
rs540444132 COSM1935475 COSM1935476	950	I>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1241954638	953	N>S		No	Ensembl
rs1480124541	954	I>M		No	TOPMed gnomAD
rs1188163430	955	R>C		No	gnomAD
rs781502670	955	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed
rs1188163430	955	R>S		No	gnomAD
rs867803969	956	P>L		No	Ensembl
rs1259152291	957	T>S		No	gnomAD
rs746277687	958	F>L		No	ExAC
TCGA novel	959	K>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1234718257	959	K>R		No	TOPMed gnomAD
rs1234718257	959	K>T		No	TOPMed gnomAD
rs2136824898	960	E>Q		No	Ensembl
rs60586767	962	A>T		No	gnomAD
rs1186587795	963	N>S		No	TOPMed gnomAD
rs1361652886	966	T>I		No	TOPMed gnomAD
rs561787077	967	R>K		No	1000Genomes ExAC TOPMed gnomAD
rs2136824947	969	A>T		No	Ensembl
rs768736698	970	R>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs774326613	970	R>Q		No	ExAC gnomAD
rs2136824974	971	D>E		No	Ensembl
rs2136824987	972	P>S		No	Ensembl
rs867559379	973	P>Q		No	Ensembl
rs1435701051	974	R>G		No	TOPMed gnomAD
rs376939275	974	R>Q		No	ESP ExAC TOPMed gnomAD
rs1435701051	974	R>W		No	TOPMed gnomAD
rs1353796675	977	V>F		No	gnomAD
rs1353796675	977	V>L		No	gnomAD
rs2136825364	980	R>*		No	Ensembl
rs1869028434	980	R>K		No	gnomAD
rs1869028434	980	R>T		No	gnomAD
rs1869028698	981	E>D		No	TOPMed
rs777784585	981	E>K		No	ExAC TOPMed gnomAD
rs777784585	981	E>Q		No	ExAC TOPMed gnomAD
rs2136825373 COSM1188523	982	S>C	lung [Cosmic]	No	cosmic curated Ensembl
rs2136825373	982	S>G		No	Ensembl
rs2136825381	982	S>N		No	Ensembl
rs2136825381	982	S>T		No	Ensembl
rs2136825391	983	G>A		No	Ensembl
rs2136825391	983	G>E		No	Ensembl
rs2136825385	983	G>R		No	Ensembl
rs2136825391	983	G>V		No	Ensembl
rs2136825402	984	P>A		No	Ensembl
rs746955432	984	P>H		No	ExAC TOPMed gnomAD
rs746955432	984	P>L		No	ExAC TOPMed gnomAD
rs746955432	984	P>R		No	ExAC TOPMed gnomAD
rs2136825402	984	P>S		No	Ensembl
rs2136825402	984	P>T		No	Ensembl
rs2136825421	985	G>*		No	Ensembl
rs770800582	985	G>A		No	ExAC gnomAD
rs770800582	985	G>E		No	ExAC gnomAD
rs2136825421	985	G>R		No	Ensembl
rs770800582	985	G>V		No	ExAC gnomAD
rs776317437	986	I>K		No	ExAC TOPMed gnomAD
rs2136825431	986	I>L		No	Ensembl
rs2136825444	986	I>M		No	Ensembl
rs776317437	986	I>R		No	ExAC TOPMed gnomAD
rs1318888255	987	A>D		No	Ensembl
rs1318888255	987	A>G		No	Ensembl
rs1869029336	987	A>T		No	TOPMed
rs1318888255	987	A>V		No	Ensembl
rs1869029605	988	P>A		No	Ensembl
rs2136825471	988	P>L		No	Ensembl
rs2136825471	988	P>R		No	Ensembl
rs1869029605	988	P>S		No	Ensembl
rs1869029605	988	P>T		No	Ensembl
rs2136825495	989	G>A		No	Ensembl
rs2136825495	989	G>E		No	Ensembl
rs2136825484	989	G>R		No	Ensembl
rs2136825495	989	G>V		No	Ensembl
rs2136825484	989	G>W		No	Ensembl
rs2136825509	990	P>A		No	Ensembl
rs1352904985	990	P>Q		No	Ensembl
rs1352904985	990	P>R		No	Ensembl
rs2136825509	990	P>S		No	Ensembl
rs2136825509	990	P>T		No	Ensembl
rs1052807338	991	E>G		No	Ensembl
rs372311528	991	E>K		No	Ensembl
rs372311528	991	E>Q		No	Ensembl
rs1052807338	991	E>V		No	Ensembl
rs769377225	992	P>A		No	ExAC TOPMed gnomAD
rs2136825536	992	P>H		No	Ensembl
rs2136825536	992	P>L		No	Ensembl
rs2136825536	992	P>R		No	Ensembl
rs769377225	992	P>S		No	ExAC TOPMed gnomAD
rs775048781	993	H>L		No	ExAC gnomAD
rs775048781	993	H>P		No	ExAC gnomAD
rs111656432	993	H>Q		No	ExAC TOPMed gnomAD
rs775048781 COSM3936041 COSM3936040	993	H>R	oesophagus [Cosmic]	No	cosmic curated ExAC gnomAD
rs1195904336	994	G>A		No	gnomAD
rs1195904336	994	G>D		No	gnomAD
rs2136825557	994	G>R		No	Ensembl
rs1195904336	994	G>V		No	gnomAD
rs2136825575	995	L>M		No	Ensembl
rs2136825575	995	L>V		No	Ensembl
rs2136825592	996	T>A		No	Ensembl
rs2136825592	996	T>S		No	Ensembl
TCGA novel	997	N>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1393620003	997	N>H		No	gnomAD
rs2136825618	997	N>I		No	Ensembl
rs2136825621	997	N>K		No	Ensembl
rs2136825618	997	N>T		No	Ensembl
rs1393620003	997	N>Y		No	gnomAD
rs56259600	998	K>M		No	1000Genomes ESP ExAC TOPMed gnomAD
rs2136825635	998	K>N		No	Ensembl
RCV001508693 rs56259600 VAR_042108	998	K>R		No	ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs2136825641	999	K>M		No	Ensembl
rs2136825646	999	K>N		No	Ensembl
COSM4043463 COSM4043464	1001	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2136825671	1001	E>G		No	Ensembl
rs2136825663	1001	E>K		No	Ensembl
rs2136825663	1001	E>Q		No	Ensembl
rs2136825671	1001	E>V		No	Ensembl
rs2136825683	1002	E>*		No	Ensembl
rs2136825695	1002	E>D		No	Ensembl
rs2136825683	1002	E>K		No	Ensembl
rs2136825683	1002	E>Q		No	Ensembl
rs2136825717	1003	V>E		No	Ensembl
rs2136825717	1003	V>G		No	Ensembl
rs549592321	1003	V>I		No	Ensembl
rs1869030866	1004	E>*		No	Ensembl
rs1159416296	1004	E>A		No	gnomAD
rs1869030866	1004	E>K		No	Ensembl
rs1159416296	1004	E>V		No	gnomAD
rs1869031073	1005	L>M		No	gnomAD
rs2136825743	1005	L>Q		No	Ensembl
rs2136825743	1005	L>R		No	Ensembl
rs1869031073	1005	L>V		No	gnomAD
rs1410402962	1006	E>*		No	gnomAD
rs1555212522	1006	E>D		No	TOPMed
rs2136825754	1006	E>G		No	Ensembl
rs1410402962	1006	E>K		No	gnomAD
rs1410402962	1006	E>Q		No	gnomAD
rs2136825754	1006	E>V		No	Ensembl
rs750884386	1007	P>A		No	ExAC gnomAD
rs2136825789	1007	P>Q		No	Ensembl
rs2136825789	1007	P>R		No	Ensembl
rs750884386	1007	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs750884386	1007	P>T		No	ExAC gnomAD
rs2136825809	1008	E>D		No	Ensembl
rs761205665	1008	E>K		No	ExAC gnomAD
rs761205665	1008	E>Q		No	ExAC gnomAD
rs2136825805	1008	E>V		No	Ensembl
rs2136825816	1009	L>I		No	Ensembl
rs2136825816	1009	L>V		No	Ensembl
rs2136825838	1010	D>A		No	Ensembl
rs1869032185	1010	D>E		No	Ensembl
rs2136825838	1010	D>G		No	Ensembl
rs2136825831	1010	D>H		No	Ensembl
rs2136825831	1010	D>N		No	Ensembl
rs2136825838	1010	D>V		No	Ensembl
rs1869032281	1011	L>I		No	Ensembl
rs2136825858	1011	L>Q		No	Ensembl
rs1869032281	1011	L>V		No	Ensembl
rs1869032382	1012	D>A		No	TOPMed gnomAD
rs2136825882	1012	D>E		No	Ensembl
rs1869032382	1012	D>G		No	TOPMed gnomAD
rs2136825874	1012	D>H		No	Ensembl
rs2136825874	1012	D>N		No	Ensembl
rs1869032382	1012	D>V		No	TOPMed gnomAD
rs2136825874	1012	D>Y		No	Ensembl
rs2136825900	1013	L>P		No	Ensembl
rs2136825900	1013	L>Q		No	Ensembl
rs2136825923	1014	D>A		No	Ensembl
rs2136825929	1014	D>E		No	Ensembl
rs766735121	1014	D>H		No	ExAC gnomAD
rs766735121	1014	D>N		No	ExAC gnomAD
rs2136825923	1014	D>V		No	Ensembl
rs766735121	1014	D>Y		No	ExAC gnomAD
rs2136825946	1015	L>*		No	Ensembl
rs2136825956	1015	L>F		No	Ensembl
rs1869032683	1015	L>M		No	gnomAD
rs1869032683	1015	L>V		No	gnomAD
rs2136825965	1016	E>*		No	Ensembl
rs368317187	1016	E>D		No	ESP ExAC TOPMed gnomAD
rs2136825975	1016	E>G		No	Ensembl
rs2136825965	1016	E>K		No	Ensembl
rs2136825965	1016	E>Q		No	Ensembl
rs2136826014	1017	A>E		No	Ensembl
rs2136826014	1017	A>G		No	Ensembl
rs2136825999	1017	A>P		No	Ensembl
rs2136825999	1017	A>T		No	Ensembl
rs2136826014	1017	A>V		No	Ensembl
rs2136826044	1018	E>D		No	Ensembl
rs779069907	1018	E>K		No	ExAC TOPMed gnomAD
rs779069907 COSM356724	1018	E>Q	lung [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs139267530	1019	E>D		No	1000Genomes ESP ExAC TOPMed gnomAD
rs2136826053	1019	E>K		No	Ensembl
rs2136826053	1019	E>Q		No	Ensembl
rs1869033286	1019	E>V		No	Ensembl
rs1279836491	1020	D>E		No	gnomAD
rs1232213184	1020	D>G		No	gnomAD
rs2136826074	1020	D>H		No	Ensembl
rs2136826094	1021	N>I		No	Ensembl
rs758492908	1021	N>K		No	ExAC gnomAD
rs2136826094	1021	N>S		No	Ensembl
rs2136826094	1021	N>T		No	Ensembl
rs2136826106	1022	L>M		No	Ensembl
rs2136826106	1022	L>V		No	Ensembl
rs2136826122	1023	A>E		No	Ensembl
rs2136826122	1023	A>G		No	Ensembl
rs2136826117	1023	A>P		No	Ensembl
COSM269115 rs2136826117	1023	A>T	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs2136826122	1023	A>V		No	Ensembl
rs150001629	1024	T>N		No	1000Genomes ESP ExAC TOPMed gnomAD
rs2136826132	1024	T>S		No	Ensembl
rs150001629	1024	T>S		No	1000Genomes ESP ExAC TOPMed gnomAD
rs2136826164	1025	T>I		No	Ensembl
rs2136826157	1025	T>P		No	Ensembl
rs2136826157	1025	T>S		No	Ensembl
rs2136826164	1025	T>S		No	Ensembl
rs770810033	1026	T>A		No	ExAC gnomAD
rs2136826182	1026	T>K		No	Ensembl
rs770810033	1026	T>P		No	ExAC gnomAD
rs2136826182	1026	T>R		No	Ensembl
rs770810033	1026	T>S		No	ExAC gnomAD
COSM3812535 COSM3812536 rs781015952	1027	L>M	Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD
rs2136826210	1027	L>P		No	Ensembl
rs2136826210	1027	L>Q		No	Ensembl
rs781015952	1027	L>V		No	ExAC gnomAD
rs1231978029	1028	G>A		No	Ensembl
rs1231978029	1028	G>D		No	Ensembl
rs2136826224	1028	G>R		No	Ensembl
rs2136826242	1029	S>C		No	Ensembl
rs2136826242	1029	S>Y		No	Ensembl
rs2136826259	1030	A>D		No	Ensembl
rs370221639	1030	A>P		No	ExAC TOPMed gnomAD
rs370221639	1030	A>T		No	ExAC TOPMed gnomAD
rs774951032	1031	L>F		No	ExAC gnomAD
rs2136826279	1031	L>H		No	Ensembl
rs774951032	1031	L>I		No	ExAC gnomAD
rs2136826279	1031	L>P		No	Ensembl
rs2136826290	1032	S>G		No	Ensembl
rs2136826301	1032	S>N		No	Ensembl
rs2136826306	1032	S>R		No	Ensembl
rs2136826315	1033	L>I		No	Ensembl
rs2136826323	1033	L>P		No	Ensembl
rs2136826323	1033	L>Q		No	Ensembl
rs2136826315	1033	L>V		No	Ensembl
rs748965595	1034	P>A		No	ExAC gnomAD
rs2136826349	1034	P>L		No	Ensembl
rs2136826349	1034	P>Q		No	Ensembl
rs748965595	1034	P>S		No	ExAC gnomAD
rs748965595	1034	P>T		No	ExAC gnomAD
rs370849499	1035	V>F		No	ESP ExAC TOPMed gnomAD
rs370849499	1035	V>L		No	ESP ExAC TOPMed gnomAD
rs2136826368	1036	G>A		No	Ensembl
rs2136826368	1036	G>E		No	Ensembl
rs2136826368	1036	G>V		No	Ensembl
rs1297712985	1037	T>I		No	TOPMed
rs1418603182	1038	L>F		No	gnomAD
rs2136826391	1039	N>T		No	Ensembl
rs200017094	1040	R>G		No	1000Genomes ExAC TOPMed gnomAD
rs149181380	1040	R>Q		No	ESP ExAC TOPMed gnomAD
rs200017094	1040	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1565861449	1041	P>S		No	Ensembl
rs777051335	1042	R>C		No	ExAC gnomAD
rs759751183	1042	R>H		No	ExAC TOPMed gnomAD
rs759751183	1042	R>L		No	ExAC TOPMed gnomAD
rs1459802247	1043	G>E		No	TOPMed gnomAD
rs747724574	1044	S>R		No	ExAC gnomAD
rs969833337	1045	Q>H		No	Ensembl
rs771613701	1046	S>R		No	ExAC gnomAD
rs776943898	1047	L>I		No	ExAC gnomAD
rs2136826708	1047	L>P		No	Ensembl
rs1355693793	1048	L>S		No	gnomAD
COSM107681 rs151311358	1049	S>G	skin [Cosmic]	No	cosmic curated ESP ExAC TOPMed gnomAD
rs1385015783	1049	S>N		No	TOPMed gnomAD
rs151311358	1049	S>R		No	ESP ExAC TOPMed gnomAD
rs1869042238	1050	P>S		No	Ensembl
rs2136826724	1051	S>L		No	Ensembl
rs1869042520	1052	S>C		No	TOPMed
rs373276051	1053	G>A		No	ESP ExAC
rs373276051	1053	G>E		No	ESP ExAC
rs17118292	1055	M>I		No	Ensembl
rs1293931372	1056	P>H		No	TOPMed
rs1293931372	1056	P>L		No	TOPMed
rs979965192	1058	N>D		No	TOPMed gnomAD
rs1592232104	1059	Q>E		No	Ensembl
rs375145270	1060	G>D		No	ESP ExAC TOPMed gnomAD
rs764464919	1061	N>H		No	ExAC gnomAD
rs751682177	1062	L>P		No	ExAC
rs757229785	1063	G>E		No	ExAC TOPMed gnomAD
rs767661045	1064	E>Q		No	ExAC gnomAD
COSM941497	1065	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs750291956	1065	S>P		No	ExAC gnomAD
TCGA novel	1066	C>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs756121964	1066	C>Y		No	ExAC gnomAD
rs1869044500	1067	Q>*		No	Ensembl
rs1869044600	1067	Q>P		No	TOPMed
rs1395403428	1068	E>K		No	gnomAD
rs750564739	1070	A>T		No	ExAC
rs2136828054	1070	A>V		No	Ensembl
rs927827412	1071	V>I		No	TOPMed
rs760520385	1072	S>F		No	ExAC gnomAD
rs540419748	1073	G>R		No	1000Genomes ExAC gnomAD
rs2136828088	1073	G>V		No	Ensembl
rs2136828116	1074	S>C		No	Ensembl
rs2136828124 COSM288207	1074	S>N	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs1290054021	1075	S>N		No	gnomAD
rs1869077540	1075	S>R		No	TOPMed gnomAD
rs1869077657	1076	E>D		No	gnomAD
rs112651994	1077	R>G		No	1000Genomes ESP ExAC TOPMed gnomAD
rs752248295	1077	R>Q		No	ExAC gnomAD
RCV000994934 rs112651994	1077	R>W		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1327022429	1078	C>R		No	TOPMed gnomAD
rs2136828193	1078	C>Y		No	Ensembl
rs1232512597	1079	P>L		No	TOPMed gnomAD
rs1313765181	1079	P>S		No	Ensembl
rs373840207	1080	R>C		No	ESP ExAC TOPMed gnomAD
rs376234145	1080	R>H		No	ESP ExAC TOPMed gnomAD
rs373840207	1080	R>S		No	ESP ExAC TOPMed gnomAD
TCGA novel	1080	R>V	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1258973140	1081	P>L		No	gnomAD
rs2136828266	1082	V>I		No	Ensembl
rs888359200	1083	S>A		No	TOPMed gnomAD
rs1299782216	1084	L>P		No	TOPMed
rs780639000	1085	H>P		No	ExAC TOPMed gnomAD
rs780639000	1085	H>R		No	ExAC TOPMed gnomAD
rs770418548	1085	H>Y		No	ExAC TOPMed gnomAD
rs930167600	1086	P>L		No	Ensembl
TCGA novel	1087	M>missing	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs749837397	1087	M>V		No	ExAC TOPMed gnomAD
rs868506992	1088	P>S		No	Ensembl
rs868506992	1088	P>T		No	Ensembl
rs774819745	1089	R>P		No	ExAC TOPMed gnomAD
rs774819745	1089	R>Q		No	ExAC TOPMed gnomAD
rs551223118	1089	R>W		No	1000Genomes ExAC TOPMed gnomAD
rs1869080673	1090	G>E		No	Ensembl
rs2136828390	1090	G>R		No	Ensembl
rs761919744	1091	C>G		No	ExAC TOPMed gnomAD
rs761919744	1091	C>R		No	ExAC TOPMed gnomAD
rs762684981	1091	C>Y		No	Ensembl
rs1869081129	1092	L>V		No	TOPMed
rs768349999	1093	A>E		No	TOPMed
rs2136828449	1093	A>T		No	Ensembl
rs768349999	1093	A>V		No	TOPMed
rs1869081666	1094	S>A		No	TOPMed
rs2136828484	1094	S>L		No	Ensembl
rs868748673	1095	E>*		No	Ensembl
rs772400489	1095	E>A		No	ExAC TOPMed gnomAD
rs1869082313	1097	S>*		No	TOPMed gnomAD
rs1869082313	1097	S>L		No	TOPMed gnomAD
RCV000885555 rs77822103	1097	S>P		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1488393403	1098	E>Q		No	TOPMed gnomAD
rs1045060091	1099	G>A		No	TOPMed
rs1045060091	1099	G>E		No	TOPMed
rs1166339553	1100	H>Y		No	TOPMed gnomAD
rs2136828567	1101	V>I		No	Ensembl
rs2136828589	1102	T>I		No	Ensembl
rs1439240083	1103	G>A		No	gnomAD
COSM1661705 COSM1661704 rs1439240083	1103	G>D	kidney [Cosmic]	No	cosmic curated gnomAD
rs2136828626	1106	A>D		No	Ensembl
rs2136828615	1106	A>P		No	Ensembl
rs2136828615	1106	A>T		No	Ensembl
rs2136828626	1106	A>V		No	Ensembl
rs2136828657	1107	E>G		No	Ensembl
rs766463645	1108	L>F		No	ExAC gnomAD
rs766463645	1108	L>I		No	ExAC gnomAD
rs753723245	1109	Q>*		No	ExAC gnomAD
rs905232572	1110	E>A		No	TOPMed gnomAD
rs551404301	1110	E>D		No	1000Genomes ExAC TOPMed gnomAD
rs905232572	1110	E>G		No	TOPMed gnomAD
rs532910077	1110	E>K		No	1000Genomes ExAC gnomAD
rs532910077	1110	E>Q		No	1000Genomes ExAC gnomAD
rs1232000429	1111	K>E		No	TOPMed gnomAD
rs777547093	1112	V>A		No	ExAC TOPMed gnomAD
rs752581968	1112	V>L		No	ExAC TOPMed gnomAD
rs752581968	1112	V>M		No	ExAC TOPMed gnomAD
rs2136828745	1113	S>*		No	Ensembl
rs2136828734	1113	S>T		No	Ensembl
rs751174259	1114	M>L		No	ExAC TOPMed gnomAD
rs756767445	1114	M>T		No	ExAC TOPMed gnomAD
rs1869085002	1115	C>S		No	TOPMed
rs1869085002	1115	C>Y		No	TOPMed
rs2271189	1116	R>S		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1188036373	1117	S>I		No	TOPMed gnomAD
rs1157648275	1117	S>R		No	TOPMed gnomAD
rs1188036373	1117	S>T		No	TOPMed gnomAD
rs201958747	1118	R>P		No	1000Genomes ExAC TOPMed gnomAD
rs201958747	1118	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs138517750	1118	R>W		No	1000Genomes ESP ExAC TOPMed gnomAD
VAR_042109 rs773123 RCV001535328	1119	S>C		No	ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs772330811	1119	S>N		No	ExAC TOPMed gnomAD
rs772330811	1119	S>T		No	ExAC TOPMed gnomAD
COSM694511 COSM1646529	1120	R>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1463820804	1120	R>K		No	gnomAD
rs1296730259	1121	S>N		No	gnomAD
rs1296730259	1121	S>T		No	gnomAD
rs747256428	1122	R>Q		No	ExAC TOPMed gnomAD
rs773429549	1122	R>W		No	ExAC TOPMed gnomAD
rs988843207	1123	S>C		No	TOPMed gnomAD
rs988843207	1123	S>G		No	TOPMed gnomAD
rs2136828975	1123	S>N		No	Ensembl
rs1357321306	1123	S>R		No	TOPMed gnomAD
rs770956274	1124	P>S		No	ExAC gnomAD
rs776728303	1125	R>G		No	ExAC gnomAD
rs765277521	1125	R>P		No	ExAC TOPMed gnomAD
rs765277521	1125	R>Q		No	ExAC TOPMed gnomAD
rs776728303	1125	R>W		No	ExAC gnomAD
rs201486425	1126	P>L		No	1000Genomes ExAC TOPMed gnomAD
rs201486425	1126	P>R		No	1000Genomes ExAC TOPMed gnomAD
rs2136829026	1126	P>S		No	Ensembl
rs763808045	1127	R>C		No	ExAC TOPMed gnomAD
rs763808045	1127	R>G		No	ExAC TOPMed gnomAD
VAR_042110 rs2271188 RCV000885647 COSM1363017 COSM1363018	1127	R>H	large_intestine [Cosmic]	No	cosmic curated ClinVar UniProt 1000Genomes ESP ExAC dbSNP gnomAD
rs763808045	1127	R>S		No	ExAC TOPMed gnomAD
rs1869089465	1128	G>E		No	TOPMed
rs1181827941 COSM4043466 COSM4043465	1128	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA gnomAD
rs1869089558	1129	D>E		No	Ensembl
rs1338123466	1131	A>G		No	TOPMed
RCV000973490 rs150312718	1131	A>T		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1338123466	1131	A>V		No	TOPMed
rs1167037816	1132	Y>*		No	gnomAD
rs750011302	1132	Y>H		No	ExAC gnomAD
rs755540867	1133	H>R		No	ExAC gnomAD
rs1334721954	1134	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1334721954	1134	S>Y		No	TOPMed gnomAD
rs1869090360	1135	Q>*		No	Ensembl
rs779413213	1135	Q>R		No	ExAC gnomAD
rs79759315	1136	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ExAC NCI-TCGA TOPMed gnomAD
COSM4043467 COSM4043468 rs758743468	1136	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD
rs79759315	1136	R>S		No	1000Genomes ExAC TOPMed gnomAD
rs2136829158	1137	H>Q		No	Ensembl
rs2136829163	1138	S>N		No	Ensembl
rs2136829177	1140	L>M		No	Ensembl
rs557728984	1140	L>P		No	1000Genomes ExAC TOPMed gnomAD
rs557728984	1140	L>R		No	1000Genomes ExAC TOPMed gnomAD
rs1362556902	1141	T>I		No	gnomAD
rs1170241416	1141	T>P		No	TOPMed
rs1170241416	1141	T>S		No	TOPMed
rs771187693	1142	P>S		No	ExAC TOPMed gnomAD
rs1341063776	1143	V>F		No	TOPMed gnomAD
rs1341063776	1143	V>I		No	TOPMed gnomAD
rs1341063776	1143	V>L		No	TOPMed gnomAD
rs2136829249	1144	T>I		No	Ensembl
rs2136829241	1144	T>S		No	Ensembl
rs776675136	1145	P>A		No	ExAC TOPMed gnomAD
rs746015375	1145	P>L		No	ExAC TOPMed gnomAD
rs746015375	1145	P>R		No	ExAC TOPMed gnomAD
rs776675136	1145	P>S		No	ExAC TOPMed gnomAD
rs776675136	1145	P>T		No	ExAC TOPMed gnomAD
COSM5375608 COSM5375609 rs1869092602	1147	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs1440261450	1148	P>L		No	TOPMed gnomAD
rs1440261450	1148	P>Q		No	TOPMed gnomAD
rs1440261450	1148	P>R		No	TOPMed gnomAD
rs769768196	1149	P>A		No	ExAC gnomAD
rs2136829312	1149	P>L		No	Ensembl
rs769768196	1149	P>S		No	ExAC gnomAD
rs149495975	1150	G>A		No	ESP ExAC TOPMed gnomAD
rs149495975	1150	G>E		No	ESP ExAC TOPMed gnomAD
rs1804467685	1150	G>R		No	Ensembl
rs1804467685	1150	G>W		No	Ensembl
rs2136829341	1151	L>I		No	1000Genomes
rs1869093761	1152	E>G		No	Ensembl
rs1869093674	1152	E>Q		No	TOPMed
rs761544555	1154	E>*		No	ExAC gnomAD
rs2136829365	1155	D>H		No	Ensembl
rs1345775291	1156	V>F		No	TOPMed gnomAD
rs1345775291	1156	V>I		No	TOPMed gnomAD
rs755595923	1158	G>C		No	ExAC TOPMed gnomAD
rs2136829401	1158	G>D		No	Ensembl
rs755595923	1158	G>S		No	ExAC TOPMed gnomAD
rs1869094981	1160	V>A		No	Ensembl
rs1277264420	1160	V>I		No	TOPMed
rs1277264420	1160	V>L		No	TOPMed
rs764225931	1161	M>L		No	gnomAD
rs1869095231	1161	M>T		No	Ensembl
rs1592232616	1162	P>S		No	Ensembl
rs370634525	1164	T>A		No	ESP TOPMed gnomAD
rs922851223	1165	H>Q		No	TOPMed
rs758866721	1165	H>R		No	ExAC TOPMed gnomAD
rs1364258985	1165	H>Y		No	gnomAD
rs2136829458	1166	L>F		No	Ensembl
rs2136829464	1166	L>H		No	Ensembl
rs776195897	1168	G>D		No	ExAC gnomAD
rs2136829894	1169	T>I		No	Ensembl
rs1323241399	1171	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1869104872	1172	S>F		No	TOPMed
rs138861245	1173	R>P		No	1000Genomes ESP ExAC TOPMed gnomAD
COSM1580861 COSM1580862 rs138861245	1173	R>Q	haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs180986542	1173	R>W		No	1000Genomes ExAC TOPMed gnomAD
rs2136829979	1174	E>Q		No	Ensembl
rs2136829987	1175	G>D		No	Ensembl
rs375222170	1176	T>N		No	ESP
VAR_042111 RCV000888138 rs55699040	1177	L>I		No	ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs2136830009	1177	L>R		No	Ensembl
rs55699040	1177	L>V		No	1000Genomes ESP ExAC TOPMed gnomAD
COSM3463328 COSM3463329	1178	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1408801384	1178	S>P		No	TOPMed
rs1329209789	1180	V>L		No	gnomAD
rs894170304	1181	G>C		No	Ensembl
rs1372010362	1181	G>D		No	TOPMed gnomAD
rs894170304	1181	G>R		No	Ensembl
rs894170304	1181	G>S		No	Ensembl
rs1287088483	1182	L>F		No	gnomAD
rs1287088483 COSM4043470 COSM4043469	1182	L>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA gnomAD
rs1356699066	1183	S>I		No	gnomAD
rs2136830073	1184	S>F		No	Ensembl
rs1247569296	1185	V>L		No	TOPMed gnomAD
rs1324041722	1186	L>R		No	TOPMed gnomAD
rs2136830098	1187	G>D		No	Ensembl
rs750813770	1188	T>I		No	ExAC gnomAD
rs750813770	1188	T>S		No	ExAC gnomAD
COSM1935513 COSM1935514	1189	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1869107391	1190	E>G		No	Ensembl
rs1482156432	1191	E>D		No	TOPMed gnomAD
rs1277050238	1191	E>K		No	gnomAD
rs200811061	1192	D>E		No	1000Genomes ExAC
rs1869107801	1192	D>N		No	Ensembl
COSM74538	1194	D>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs147436223	1196	E>G		No	ESP ExAC TOPMed gnomAD
rs754106965	1196	E>K		No	ExAC TOPMed gnomAD
rs748071169	1198	E>D		No	ExAC TOPMed gnomAD
TCGA novel	1199	Y>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2136830226	1200	M>K		No	Ensembl
rs758455948	1202	R>G		No	ExAC TOPMed gnomAD
rs373454755	1202	R>L		No	ESP ExAC TOPMed gnomAD
rs373454755	1202	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs758455948	1202	R>W		No	ExAC TOPMed gnomAD
rs1391637476	1203	R>G		No	TOPMed gnomAD
rs1296655511	1203	R>K		No	TOPMed
rs1296655511	1203	R>T		No	TOPMed
rs1592232779	1204	R>G		No	Ensembl
rs2136830287	1204	R>K		No	Ensembl
rs1345871079	1205	R>T		No	TOPMed
rs745555924	1206	H>R		No	ExAC gnomAD
rs2136830314	1206	H>Y		No	Ensembl
rs1397239993	1207	S>G		No	gnomAD
rs1869111561	1207	S>N		No	gnomAD
rs2136830354	1207	S>R		No	Ensembl
rs1322171934	1208	P>L		No	gnomAD
rs1332849011	1209	P>L		No	TOPMed gnomAD
rs1869111782	1209	P>S		No	Ensembl
rs2136830382	1210	H>Y		No	Ensembl
rs2136830411	1211	P>H		No	Ensembl
rs1340330119	1211	P>S		No	TOPMed gnomAD
TCGA novel	1212	P>L	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1340327680	1212	P>L		No	TOPMed gnomAD
COSM254676 rs769251414	1212	P>S	urinary_tract [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs2136830458	1213	R>K		No	Ensembl
rs1228006683	1213	R>W		No	TOPMed gnomAD
COSM1586597 COSM941499 rs1281265231	1216	S>F	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
rs1281265231	1216	S>Y		No	TOPMed gnomAD
rs1191071083	1217	L>F		No	TOPMed gnomAD
COSM4043472 COSM4043471 rs1191071083	1217	L>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic TOPMed gnomAD
TCGA novel	1218	E>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM1322373 COSM1322372	1219	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM1586596 COSM941500	1221	G>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs762295587	1221	G>R		No	ExAC TOPMed gnomAD
rs2136830593	1223	E>G		No	Ensembl
rs1254014051	1223	E>K		No	gnomAD
rs1441707172	1224	Y>*		No	gnomAD
rs2136830626	1224	Y>D		No	Ensembl
rs768081452	1225	M>K		No	ExAC gnomAD
rs768081452	1225	M>T		No	ExAC gnomAD
rs1189014214	1225	M>V		No	gnomAD
rs1445716502	1226	D>A		No	gnomAD
rs1355874075	1226	D>N		No	Ensembl
rs2136830706	1228	G>E		No	Ensembl
rs1217262342	1229	S>*		No	Ensembl
rs1217262342	1229	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	Ensembl NCI-TCGA
rs2136830714	1229	S>T		No	Ensembl
rs2136830741	1230	D>E		No	Ensembl
rs2136830736	1230	D>G		No	Ensembl
rs2136830731	1230	D>H		No	Ensembl
rs2136830736	1230	D>V		No	Ensembl
rs2136830747	1231	L>H		No	Ensembl
COSM3812537 COSM3812538	1231	L>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2136830755	1232	S>T		No	Ensembl
rs2136830762	1233	A>T		No	Ensembl
COSM4605218 COSM4605219	1234	S>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2136830769	1234	S>T		No	Ensembl
rs2136830774	1234	S>Y		No	Ensembl
rs2136830781	1235	L>Q		No	Ensembl
COSM4043473 COSM4043474 rs2136830793	1237	S>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs2136830806	1237	S>R		No	Ensembl
rs2136830812	1238	T>K		No	Ensembl
rs1869114218	1239	Q>*		No	TOPMed gnomAD
rs1869114218	1239	Q>E		No	TOPMed gnomAD
rs1447415185	1239	Q>H		No	TOPMed gnomAD
rs1193102047	1239	Q>R		No	gnomAD
rs983025460	1240	S>N		No	TOPMed gnomAD
rs983025460	1240	S>T		No	TOPMed gnomAD
rs2136830852	1241	C>*		No	Ensembl
rs2136830846	1241	C>Y		No	Ensembl
rs2136830891	1245	P>L		No	Ensembl
rs2136830875	1245	P>T		No	Ensembl
rs2136830899	1246	V>I		No	Ensembl
rs2136830911	1247	P>A		No	Ensembl
rs2136830924	1247	P>L		No	Ensembl
rs2136830911	1247	P>S		No	Ensembl
rs962891041	1248	I>L		No	gnomAD
rs962891041	1248	I>V		No	gnomAD
COSM3812540 COSM3812539 rs2136830950	1249	M>I	Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs1869115110	1249	M>V		No	Ensembl
rs980815988	1250	P>L		No	Ensembl
rs1592232828	1250	P>S		No	Ensembl
rs371152673	1251	T>P		No	Ensembl
rs766792372	1251	T>S		No	ExAC gnomAD
rs2136830992	1252	A>P		No	Ensembl
rs2136830992	1252	A>T		No	Ensembl
rs2136831002	1252	A>V		No	Ensembl
rs2136831023	1253	G>D		No	Ensembl
rs1869115858	1253	G>R		No	gnomAD
rs1869115858 RCV001508694	1253	G>S		No	ClinVar dbSNP gnomAD
rs1010398438	1254	T>A		No	TOPMed gnomAD
rs55709407	1254	T>I		No	TOPMed gnomAD
rs55709407 VAR_042112	1254	T>K		No	UniProt TOPMed dbSNP gnomAD
rs55709407	1254	T>R		No	TOPMed gnomAD
rs577222787	1255	T>A		No	Ensembl
rs1428910114	1257	D>H		No	gnomAD
rs1231170513 COSM3463331 COSM3463330	1258	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA gnomAD
rs1231170513	1258	E>Q		No	gnomAD
rs377380727	1260	Y>F		No	ESP ExAC gnomAD
rs2136831101	1261	E>K		No	Ensembl
rs267603579 RCV001508695	1263	M>I		No	ClinVar Ensembl dbSNP
rs1869117680	1263	M>T		No	Ensembl
rs777501187	1264	N>K		No	ExAC gnomAD
rs1209336612	1264	N>Y		No	TOPMed gnomAD
rs369300309	1265	R>G		No	ESP ExAC TOPMed gnomAD
rs142809206	1265	R>P		No	1000Genomes ESP ExAC TOPMed gnomAD
rs142809206	1265	R>Q		No	1000Genomes ESP ExAC TOPMed gnomAD
COSM1363020 rs369300309 COSM1363019	1265	R>W	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs2136831175	1266	Q>*		No	Ensembl
COSM1645706 rs745487835 COSM468651	1267	R>*	Variant assessed as Somatic; HIGH impact. kidney [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs538526313	1267	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1869118880	1268	D>H		No	TOPMed
rs1869118880	1268	D>N		No	TOPMed
rs1869119379	1269	G>E		No	Ensembl
rs2136831232	1271	G>D		No	Ensembl
VAR_049711 rs11171743 RCV000897308	1271	G>S		No	ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs2136831237	1272	P>L		No	Ensembl
rs2136831252	1273	G>A		No	Ensembl
rs1869119827	1273	G>R		No	Ensembl
rs2136831272	1274	G>D		No	Ensembl
rs2136831285	1277	A>P		No	Ensembl
rs2136831285	1277	A>T		No	Ensembl
rs773545951	1277	A>V		No	ExAC TOPMed gnomAD
rs1869120290	1278	A>T		No	Ensembl
rs2136831313	1278	A>V		No	Ensembl
rs761279693	1279	M>I		No	ExAC
rs1869120382	1279	M>V		No	gnomAD
rs1869120806	1280	G>E		No	TOPMed gnomAD
rs2136831335	1280	G>R		No	Ensembl
rs868063320	1281	A>D		No	TOPMed
rs2136831365	1281	A>P		No	Ensembl
rs2136831365	1281	A>T		No	Ensembl
rs868063320	1281	A>V		No	TOPMed
rs2136831386	1282	C>W		No	Ensembl
rs1869120992	1282	C>Y		No	gnomAD
rs1387072721	1283	P>R		No	TOPMed gnomAD
rs1592232893	1283	P>S		No	Ensembl
rs2136831399	1284	A>T		No	Ensembl
rs2136831404	1284	A>V		No	Ensembl
rs1326919034	1285	S>A		No	gnomAD
rs2136831439	1287	Q>L		No	Ensembl
rs1256593573	1289	Y>*		No	TOPMed gnomAD
rs1592232900	1289	Y>D		No	TOPMed
rs1592232900	1289	Y>H		No	TOPMed
rs143742672	1290	E>*		No	ESP ExAC TOPMed gnomAD
rs765619131	1292	M>K		No	ExAC gnomAD
rs765619131	1292	M>T		No	ExAC gnomAD
rs1869122410	1293	R>K		No	Ensembl
rs1239329934	1294	A>D		No	TOPMed gnomAD
rs1239329934	1294	A>G		No	TOPMed gnomAD
rs1239329934	1294	A>V		No	TOPMed gnomAD
rs1869122801	1295	F>V		No	Ensembl
rs779896968	1296	Q>H		No	ExAC TOPMed gnomAD
rs1869123621	1298	P>R		No	TOPMed
rs751413071	1298	P>S		No	ExAC gnomAD
rs751413071	1298	P>T		No	ExAC gnomAD
rs757257914	1299	G>E		No	ExAC TOPMed gnomAD
rs1207740206	1299	G>R		No	gnomAD
rs780825658	1300	H>R		No	ExAC gnomAD
rs1869124034	1301	Q>*		No	Ensembl
rs1869124034	1301	Q>E		No	Ensembl
rs750286654 COSM4941406 COSM4941405	1301	Q>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC gnomAD
COSM6137474 COSM6137475	1301	Q>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1041694219	1301	Q>R		No	TOPMed gnomAD
rs755910454	1302	A>S		No	ExAC TOPMed gnomAD
rs755910454	1302	A>T		No	ExAC TOPMed gnomAD
rs962895742	1302	A>V		No	TOPMed gnomAD
rs1869126050	1303	P>L		No	Ensembl
rs1869126225	1304	H>L		No	Ensembl
rs1410409599	1304	H>N		No	gnomAD
TCGA novel	1304	H>P	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs768015586	1305	V>A		No	ExAC gnomAD
rs146842909	1305	V>I		No	ESP ExAC TOPMed gnomAD
rs146842909	1305	V>L		No	ESP ExAC TOPMed gnomAD
rs1456688764	1306	H>N		No	TOPMed gnomAD
rs1869126962	1306	H>R		No	Ensembl
rs1456688764	1306	H>Y		No	TOPMed gnomAD
rs2136831584	1307	Y>N		No	Ensembl
COSM1492963 COSM1492962 rs867918916	1308	A>V	kidney [Cosmic]	No	cosmic curated Ensembl
rs778529173	1309	R>C		No	ExAC TOPMed gnomAD
rs747453114	1309	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs778529173	1309	R>S		No	ExAC TOPMed gnomAD
rs771529756	1312	T>I		No	ExAC TOPMed gnomAD
rs2136831637	1313	L>I		No	Ensembl
rs1183624765	1314	R>C		No	TOPMed gnomAD
rs1183624765	1314	R>G		No	TOPMed gnomAD
rs573158454	1314	R>H		No	1000Genomes ExAC TOPMed gnomAD
rs1183624765	1314	R>S		No	TOPMed gnomAD
rs1869128850	1316	L>*		No	Ensembl
rs1264507046	1317	E>D		No	gnomAD
rs770291856	1317	E>K		No	ExAC TOPMed gnomAD
rs770291856	1317	E>Q		No	ExAC TOPMed gnomAD
rs2136831692	1318	A>D		No	Ensembl
rs775802394	1318	A>T		No	ExAC gnomAD
rs2136831703	1319	T>I		No	Ensembl
rs2136831697	1319	T>P		No	Ensembl
rs2136831697	1319	T>S		No	Ensembl
rs763298736	1320	D>E		No	ExAC gnomAD
rs376777418	1320	D>H		No	ESP TOPMed gnomAD
rs2136831715	1321	S>T		No	Ensembl
rs764048066	1322	A>T		No	ExAC TOPMed gnomAD
rs1182996382	1325	N>K		No	TOPMed gnomAD
rs751707747	1326	P>A		No	ExAC gnomAD
rs1422501286	1326	P>H		No	gnomAD
rs1422501286	1326	P>L		No	gnomAD
rs1253379676	1327	D>N		No	TOPMed gnomAD
rs761652415	1328	Y>D		No	ExAC TOPMed gnomAD
rs2136831752	1329	W>*		No	Ensembl
rs201199014	1330	H>N		No	ExAC TOPMed gnomAD
rs201199014	1330	H>Y		No	ExAC TOPMed gnomAD
rs1268432259	1331	S>T		No	TOPMed gnomAD
rs955238082	1332	R>M		No	TOPMed
rs1869130795	1334	F>L		No	TOPMed
rs1029730743	1334	F>S		No	Ensembl
rs202205409	1335	P>S		No	ESP ExAC TOPMed gnomAD
rs1869131241	1336	K>E		No	gnomAD
TCGA novel	1338	N>missing	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1303415217	1340	Q>*		No	gnomAD
rs1381182333	1341	R>G		No	gnomAD
rs2136831839	1341	R>K		No	Ensembl
rs140679673	1342	T>M		No	1000Genomes ESP ExAC TOPMed gnomAD
rs140679673	1342	T>R		No	1000Genomes ESP ExAC TOPMed gnomAD
rs770822086	1343	T>L		No	ESP ExAC TOPMed gnomAD
rs1869132353	1343	T>Y		No	Ensembl

3 associated diseases with P21860

[MIM: 607598]: Lethal congenital contracture syndrome 2 (LCCS2)

A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy, and congenital non-progressive joint contractures (arthrogryposis). The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. LCCS2 patients manifest craniofacial/ocular findings, lack of hydrops, multiple pterygia, and fractures, as well as a normal duration of pregnancy and a unique feature of a markedly distended urinary bladder (neurogenic bladder defect). The phenotype suggests a spinal cord neuropathic etiology. . Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 133180]: Erythroleukemia, familial (FERLK)

An autosomal dominant myeloproliferative disorder characterized by neoplastic proliferation of erythroblastic and myeloblastic elements with atypical erythroblasts and myeloblasts in the peripheral blood. Disease penetrance is incomplete. . Note=Disease susceptibility may be associated with variants affecting the gene represented in this entry.

[MIM: 243180]: Visceral neuropathy, familial, 1, autosomal recessive (VSCN1)

An autosomal recessive disorder characterized by intestinal dysmotility due to aganglionosis (Hirschsprung disease), hypoganglionosis, and/or chronic intestinal pseudoobstruction. Additional variable features are progressive peripheral neuropathy, arthrogryposis, hypoplasia or aplasia of the olfactory bulb and of the external auditory canals, microtia or anotia, and facial dysmorphism. Some patients present structural cardiac anomalies and arthrogryposis with multiple pterygia. . Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy, and congenital non-progressive joint contractures (arthrogryposis). The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. LCCS2 patients manifest craniofacial/ocular findings, lack of hydrops, multiple pterygia, and fractures, as well as a normal duration of pregnancy and a unique feature of a markedly distended urinary bladder (neurogenic bladder defect). The phenotype suggests a spinal cord neuropathic etiology. . Note=The disease is caused by variants affecting the gene represented in this entry.
An autosomal dominant myeloproliferative disorder characterized by neoplastic proliferation of erythroblastic and myeloblastic elements with atypical erythroblasts and myeloblasts in the peripheral blood. Disease penetrance is incomplete. . Note=Disease susceptibility may be associated with variants affecting the gene represented in this entry.
An autosomal recessive disorder characterized by intestinal dysmotility due to aganglionosis (Hirschsprung disease), hypoganglionosis, and/or chronic intestinal pseudoobstruction. Additional variable features are progressive peripheral neuropathy, arthrogryposis, hypoplasia or aplasia of the olfactory bulb and of the external auditory canals, microtia or anotia, and facial dysmorphism. Some patients present structural cardiac anomalies and arthrogryposis with multiple pterygia. . Note=The disease is caused by variants affecting the gene represented in this entry.

10 regional properties for P21860

Type	Name	Position	InterPro Accession
domain	Receptor L-domain	56 - 166	IPR000494-1
domain	Receptor L-domain	353 - 472	IPR000494-2
domain	Protein kinase domain	709 - 966	IPR000719
domain	Serine-threonine/tyrosine-protein kinase, catalytic domain	711 - 964	IPR001245
domain	Furin-like cysteine-rich domain	182 - 332	IPR006211
repeat	Furin-like repeat	180 - 220	IPR006212-1
repeat	Furin-like repeat	223 - 266	IPR006212-2
repeat	Furin-like repeat	490 - 595	IPR006212-3
repeat	Furin-like repeat	607 - 642	IPR006212-4
domain	Growth factor receptor domain 4	499 - 629	IPR032778

Functions

		Description
EC Number	2.7.10.1	Protein-tyrosine kinases
Subcellular Localization	[Isoform 1]: Cell membrane ; Single-pass type I membrane protein ;
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

8 GO annotations of cellular component

Name	Definition
apical plasma membrane	The region of the plasma membrane located at the apical end of the cell.
basal plasma membrane	The region of the plasma membrane located at the basal end of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis.
basolateral plasma membrane	The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis.
ERBB3:ERBB2 complex	A heterodimeric complex between the tyrosine kinase receptor ERBB2 and a ligand-activated receptor ERBB3. ERBB2, which does not bind any known ligand, is activated through formation of a heterodimer with another ligand-activated ERBB family member such as ERBB3.
extracellular space	That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid.
lateral plasma membrane	The portion of the plasma membrane at the lateral side of the cell. In epithelial cells, lateral plasma membranes are on the sides of cells which lie at the interface of adjacent cells.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
receptor complex	Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function.

11 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
ErbB-3 class receptor binding	Binding to the protein-tyrosine kinase receptor ErbB-3/HER3.
growth factor binding	Binding to a growth factor, proteins or polypeptides that stimulate a cell or organism to grow or proliferate.
identical protein binding	Binding to an identical protein or proteins.
neuregulin binding	Binding to a neuregulin, a member of the EGF family of growth factors.
neuregulin receptor activity	Combining with a neuregulin, a member of the EGF family of growth factors, and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity.
protein heterodimerization activity	Binding to a nonidentical protein to form a heterodimer.
protein kinase activity	Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction
protein tyrosine kinase activator activity	Increases the activity of a protein tyrosine kinase, an enzyme which phosphorylates a tyrosyl phenolic group on a protein.
transmembrane signaling receptor activity	Combining with an extracellular or intracellular signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity or state as part of signal transduction.
ubiquitin protein ligase binding	Binding to a ubiquitin protein ligase enzyme, any of the E3 proteins.

29 GO annotations of biological process

Name	Definition
cranial nerve development	The process whose specific outcome is the progression of the cranial nerves over time, from its formation to the mature structure. The cranial nerves are composed of twelve pairs of nerves that emanate from the nervous tissue of the hindbrain. These nerves are sensory, motor, or mixed in nature, and provide the motor and general sensory innervation of the head, neck and viscera. They mediate vision, hearing, olfaction and taste and carry the parasympathetic innervation of the autonomic ganglia that control visceral functions.
endocardial cushion development	The progression of a cardiac cushion over time, from its initial formation to the mature structure. The endocardial cushion is a specialized region of mesenchymal cells that will give rise to the heart septa and valves.
ERBB2-ERBB3 signaling pathway	The series of molecular signals initiated by binding of a ligand to a ERBB3 receptor on the surface of a cell, followed by transmission of the signal by a heterodimeric complex of ERBB2 and ERBB3. ERBB2, which does not bind any known ligand, is activated through formation of a heterodimer with another ligand-activated ERBB family member such as ERBB3. ERBB3 also has impaired kinase activity and relies on ERBB2 for activation and signal transmission.
extrinsic apoptotic signaling pathway in absence of ligand	The series of molecular signals in which a signal is conveyed from the cell surface to trigger the apoptotic death of a cell. The pathway starts with withdrawal of a ligand from a cell surface receptor, and ends when the execution phase of apoptosis is triggered.
heart development	The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood.
motor neuron apoptotic process	Any apoptotic process in a motor neuron, an efferent neuron that passes from the central nervous system or a ganglion toward or to a muscle and conducts an impulse that causes movement.
myelination	The process in which myelin sheaths are formed and maintained around neurons. Oligodendrocytes in the brain and spinal cord and Schwann cells in the peripheral nervous system wrap axons with compact layers of their plasma membrane. Adjacent myelin segments are separated by a non-myelinated stretch of axon called a node of Ranvier.
negative regulation of apoptotic process	Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process.
negative regulation of cell adhesion	Any process that stops, prevents, or reduces the frequency, rate or extent of cell adhesion.
negative regulation of motor neuron apoptotic process	Any process that stops, prevents or reduces the frequency, rate or extent of motor neuron apoptotic process.
negative regulation of neuron apoptotic process	Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process in neurons.
negative regulation of secretion	Any process that stops, prevents, or reduces the frequency, rate or extent of the controlled release of a substance from a cell or a tissue.
negative regulation of signal transduction	Any process that stops, prevents, or reduces the frequency, rate or extent of signal transduction.
neurogenesis	Generation of cells within the nervous system.
neuron apoptotic process	Any apoptotic process in a neuron, the basic cellular unit of nervous tissue. Each neuron consists of a body, an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system.
peripheral nervous system development	The process whose specific outcome is the progression of the peripheral nervous system over time, from its formation to the mature structure. The peripheral nervous system is one of the two major divisions of the nervous system. Nerves in the PNS connect the central nervous system (CNS) with sensory organs, other organs, muscles, blood vessels and glands.
phosphatidylinositol 3-kinase/protein kinase B signal transduction	A series of reactions, mediated by the intracellular serine/threonine kinase protein kinase B (also called AKT), which occurs as a result of a single trigger reaction or compound.
phosphorylation	The process of introducing a phosphate group into a molecule, usually with the formation of a phosphoric ester, a phosphoric anhydride or a phosphoric amide.
positive regulation of calcineurin-NFAT signaling cascade	Any process that activates or increases the frequency, rate or extent of signaling via the calcineurin-NFAT signaling cascade.
positive regulation of cardiac muscle tissue development	Any process that activates, maintains or increases the frequency, rate or extent of cardiac muscle tissue development.
positive regulation of cell population proliferation	Any process that activates or increases the rate or extent of cell proliferation.
positive regulation of gene expression	Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	Any process that activates or increases the frequency, rate or extent of protein kinase B signaling, a series of reactions mediated by the intracellular serine/threonine kinase protein kinase B.
regulation of cell population proliferation	Any process that modulates the frequency, rate or extent of cell proliferation.
Schwann cell development	The process aimed at the progression of a Schwann cell over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell. Schwann cells are found in the peripheral nervous system, where they insulate neurons and axons, and regulate the environment in which neurons function.
Schwann cell differentiation	The process in which a relatively unspecialized cell acquires the specialized features of a Schwann cell. Schwann cells are found in the peripheral nervous system, where they insulate neurons and axons, and regulate the environment in which neurons function.
signal transduction	The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.
transmembrane receptor protein tyrosine kinase signaling pathway	The series of molecular signals initiated by an extracellular ligand binding to a receptor on the surface of the target cell where the receptor possesses tyrosine kinase activity, and ending with the regulation of a downstream cellular process, e.g. transcription.
wound healing	The series of events that restore integrity to a damaged tissue, following an injury.

60 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P13387	EGFR	Epidermal growth factor receptor	Gallus gallus (Chicken)	SS
P07949	RET	Proto-oncogene tyrosine-protein kinase receptor Ret	Homo sapiens (Human)	EV
O15146	MUSK	Muscle, skeletal receptor tyrosine-protein kinase	Homo sapiens (Human)	EV
Q01974	ROR2	Tyrosine-protein kinase transmembrane receptor ROR2	Homo sapiens (Human)	EV
Q01973	ROR1	Inactive tyrosine-protein kinase transmembrane receptor ROR1	Homo sapiens (Human)	PR
Q16832	DDR2	Discoidin domain-containing receptor 2	Homo sapiens (Human)	SS
Q08345	DDR1	Epithelial discoidin domain-containing receptor 1	Homo sapiens (Human)	EV
Q16620	NTRK2	BDNF/NT-3 growth factors receptor	Homo sapiens (Human)	EV
P04629	NTRK1	High affinity nerve growth factor receptor	Homo sapiens (Human)	EV
Q16288	NTRK3	NT-3 growth factor receptor	Homo sapiens (Human)	SS
P35916	FLT4	Vascular endothelial growth factor receptor 3	Homo sapiens (Human)	SS
P17948	FLT1	Vascular endothelial growth factor receptor 1	Homo sapiens (Human)	SS
P35968	KDR	Vascular endothelial growth factor receptor 2	Homo sapiens (Human)	EV
P29317	EPHA2	Ephrin type-A receptor 2	Homo sapiens (Human)	SS
P21709	EPHA1	Ephrin type-A receptor 1	Homo sapiens (Human)	SS
P54760	EPHB4	Ephrin type-B receptor 4	Homo sapiens (Human)	SS
P29376	LTK	Leukocyte tyrosine kinase receptor	Homo sapiens (Human)	SS
Q9UM73	ALK	ALK tyrosine kinase receptor	Homo sapiens (Human)	EV
P08922	ROS1	Proto-oncogene tyrosine-protein kinase ROS	Homo sapiens (Human)	SS
P14616	INSRR	Insulin receptor-related protein	Homo sapiens (Human)	SS
P08069	IGF1R	Insulin-like growth factor 1 receptor	Homo sapiens (Human)	EV
P06213	INSR	Insulin receptor	Homo sapiens (Human)	EV
P11362	FGFR1	Fibroblast growth factor receptor 1	Homo sapiens (Human)	EV
P21802	FGFR2	Fibroblast growth factor receptor 2	Homo sapiens (Human)	EV
P22455	FGFR4	Fibroblast growth factor receptor 4	Homo sapiens (Human)	SS
P22607	FGFR3	Fibroblast growth factor receptor 3	Homo sapiens (Human)	EV
Q12866	MERTK	Tyrosine-protein kinase Mer	Homo sapiens (Human)	EV
Q04912	MST1R	Macrophage-stimulating protein receptor	Homo sapiens (Human)	EV
P30530	AXL	Tyrosine-protein kinase receptor UFO	Homo sapiens (Human)	PR
Q06418	TYRO3	Tyrosine-protein kinase receptor TYRO3	Homo sapiens (Human)	SS
P08581	MET	Hepatocyte growth factor receptor	Homo sapiens (Human)	EV
P04626	ERBB2	Receptor tyrosine-protein kinase erbB-2	Homo sapiens (Human)	SS
Q15303	ERBB4	Receptor tyrosine-protein kinase erbB-4	Homo sapiens (Human)	SS
P00533	EGFR	Epidermal growth factor receptor	Homo sapiens (Human)	EV
P34925	RYK	Tyrosine-protein kinase RYK	Homo sapiens (Human)	PR
Q02763	TEK	Angiopoietin-1 receptor	Homo sapiens (Human)	SS
P35590	TIE1	Tyrosine-protein kinase receptor Tie-1	Homo sapiens (Human)	PR
P10721	KIT	Mast/stem cell growth factor receptor Kit	Homo sapiens (Human)	EV
P09619	PDGFRB	Platelet-derived growth factor receptor beta	Homo sapiens (Human)	EV
P07333	CSF1R	Macrophage colony-stimulating factor 1 receptor	Homo sapiens (Human)	SS
P16234	PDGFRA	Platelet-derived growth factor receptor alpha	Homo sapiens (Human)	EV
P36888	FLT3	Receptor-type tyrosine-protein kinase FLT3	Homo sapiens (Human)	EV
P70424	Erbb2	Receptor tyrosine-protein kinase erbB-2	Mus musculus (Mouse)	SS
Q01279	Egfr	Epidermal growth factor receptor	Mus musculus (Mouse)	SS
Q61527	Erbb4	Receptor tyrosine-protein kinase erbB-4	Mus musculus (Mouse)	SS
Q61526	Erbb3	Receptor tyrosine-protein kinase erbB-3	Mus musculus (Mouse)	SS
Q62956	Erbb4	Receptor tyrosine-protein kinase erbB-4	Rattus norvegicus (Rat)	SS
P06494	Erbb2	Receptor tyrosine-protein kinase erbB-2	Rattus norvegicus (Rat)	SS
Q62799	Erbb3	Receptor tyrosine-protein kinase erbB-3	Rattus norvegicus (Rat)	SS
P55245	EGFR	Epidermal growth factor receptor	Macaca mulatta (Rhesus macaque)	SS
O16262	nipi-4	Protein nipi-4	Caenorhabditis elegans	PR
Q8VYA3	WAKL10	Wall-associated receptor kinase-like 10	Arabidopsis thaliana (Mouse-ear cress)	PR
Q7X8C5	WAKL2	Wall-associated receptor kinase-like 2	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9S9M2	WAKL4	Wall-associated receptor kinase-like 4	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9C9L5	WAKL9	Wall-associated receptor kinase-like 9	Arabidopsis thaliana (Mouse-ear cress)	PR
Q0WNY5	WAKL18	Wall-associated receptor kinase-like 18	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9M092	WAKL17	Wall-associated receptor kinase-like 17	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9LMN7	WAK5	Wall-associated receptor kinase 5	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9LSV3	WAKL16	Putative wall-associated receptor kinase-like 16	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9M342	WAKL15	Wall-associated receptor kinase-like 15	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MRANDALQVL	GLLFSLARGS	EVGNSQAVCP	GTLNGLSVTG	DAENQYQTLY	KLYERCEVVM
70	80	90	100	110	120
GNLEIVLTGH	NADLSFLQWI	REVTGYVLVA	MNEFSTLPLP	NLRVVRGTQV	YDGKFAIFVM
130	140	150	160	170	180
LNYNTNSSHA	LRQLRLTQLT	EILSGGVYIE	KNDKLCHMDT	IDWRDIVRDR	DAEIVVKDNG
190	200	210	220	230	240
RSCPPCHEVC	KGRCWGPGSE	DCQTLTKTIC	APQCNGHCFG	PNPNQCCHDE	CAGGCSGPQD
250	260	270	280	290	300
TDCFACRHFN	DSGACVPRCP	QPLVYNKLTF	QLEPNPHTKY	QYGGVCVASC	PHNFVVDQTS
310	320	330	340	350	360
CVRACPPDKM	EVDKNGLKMC	EPCGGLCPKA	CEGTGSGSRF	QTVDSSNIDG	FVNCTKILGN
370	380	390	400	410	420
LDFLITGLNG	DPWHKIPALD	PEKLNVFRTV	REITGYLNIQ	SWPPHMHNFS	VFSNLTTIGG
430	440	450	460	470	480
RSLYNRGFSL	LIMKNLNVTS	LGFRSLKEIS	AGRIYISANR	QLCYHHSLNW	TKVLRGPTEE
490	500	510	520	530	540
RLDIKHNRPR	RDCVAEGKVC	DPLCSSGGCW	GPGPGQCLSC	RNYSRGGVCV	THCNFLNGEP
550	560	570	580	590	600
REFAHEAECF	SCHPECQPME	GTATCNGSGS	DTCAQCAHFR	DGPHCVSSCP	HGVLGAKGPI
610	620	630	640	650	660
YKYPDVQNEC	RPCHENCTQG	CKGPELQDCL	GQTLVLIGKT	HLTMALTVIA	GLVVIFMMLG
670	680	690	700	710	720
GTFLYWRGRR	IQNKRAMRRY	LERGESIEPL	DPSEKANKVL	ARIFKETELR	KLKVLGSGVF
730	740	750	760	770	780
GTVHKGVWIP	EGESIKIPVC	IKVIEDKSGR	QSFQAVTDHM	LAIGSLDHAH	IVRLLGLCPG
790	800	810	820	830	840
SSLQLVTQYL	PLGSLLDHVR	QHRGALGPQL	LLNWGVQIAK	GMYYLEEHGM	VHRNLAARNV
850	860	870	880	890	900
LLKSPSQVQV	ADFGVADLLP	PDDKQLLYSE	AKTPIKWMAL	ESIHFGKYTH	QSDVWSYGVT
910	920	930	940	950	960
VWELMTFGAE	PYAGLRLAEV	PDLLEKGERL	AQPQICTIDV	YMVMVKCWMI	DENIRPTFKE
970	980	990	1000	1010	1020
LANEFTRMAR	DPPRYLVIKR	ESGPGIAPGP	EPHGLTNKKL	EEVELEPELD	LDLDLEAEED
1030	1040	1050	1060	1070	1080
NLATTTLGSA	LSLPVGTLNR	PRGSQSLLSP	SSGYMPMNQG	NLGESCQESA	VSGSSERCPR
1090	1100	1110	1120	1130	1140
PVSLHPMPRG	CLASESSEGH	VTGSEAELQE	KVSMCRSRSR	SRSPRPRGDS	AYHSQRHSLL
1150	1160	1170	1180	1190	1200
TPVTPLSPPG	LEEEDVNGYV	MPDTHLKGTP	SSREGTLSSV	GLSSVLGTEE	EDEDEEYEYM
1210	1220	1230	1240	1250	1260
NRRRRHSPPH	PPRPSSLEEL	GYEYMDVGSD	LSASLGSTQS	CPLHPVPIMP	TAGTTPDEDY
1270	1280	1290	1300	1310	1320
EYMNRQRDGG	GPGGDYAAMG	ACPASEQGYE	EMRAFQGPGH	QAPHVHYARL	KTLRSLEATD
1330	1340
SAFDNPDYWH	SRLFPKANAQ	RT