AiPD: Autoinhibited Protein Database

P04920

Gene name	SLC4A2 (AE2, EPB3L1, HKB3, MPB3L)
Protein name	Anion exchange protein 2
Names	Anion exchange protein 1, AE 1, Anion exchanger 1, MEB3, Solute carrier family 4 member 1, AE 2, Anion exchanger 2, Non-erythroid band 3-like protein, BND3L, Solute carrier family 4 member 2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:6522
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

34-278 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

34-278 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

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

Autoinhibited structure

Activated structure

10 structures for P04920

Entry ID	Method	Resolution	Chain	Position	Source
8GV8	EM	308 A	A/B	1-1241	PDB
8GV9	EM	306 A	A/B	1-1241	PDB
8GVA	EM	325 A	A/B	1-1241	PDB
8GVC	EM	289 A	A/B	1-1241	PDB
8GVE	EM	317 A	A/B	1-1241	PDB
8GVF	EM	309 A	A/B	1-1241	PDB
8GVH	EM	332 A	A/B	1-1241	PDB
8JNI	EM	320 A	A/B	1-1241	PDB
8JNJ	EM	330 A	A/B	1-1241	PDB
AF-P04920-F1	Predicted				AlphaFoldDB

943 variants for P04920

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1419208602 CA370006866	2	S>N		No	ClinGen gnomAD
rs1415429497 CA370006869	2	S>R		No	ClinGen gnomAD
CA370006880 rs1178793226	4	A>P		No	ClinGen gnomAD
CA169082991 rs1016587973	6	R>Q		No	ClinGen TOPMed gnomAD
rs1448026162 CA370006897	7	R>C		No	ClinGen TOPMed gnomAD
CA4570674 rs747989506 COSM2157137	7	R>H	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
COSM247411 CA4570673 rs747989506	7	R>L	prostate [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs747989506 CA370006898	7	R>P		No	ClinGen ExAC TOPMed gnomAD
CA4570675 rs777005488	8	P>A		No	ClinGen ExAC TOPMed gnomAD
CA370006899 rs777005488	8	P>S		No	ClinGen ExAC TOPMed gnomAD
CA169083004 rs768070429	9	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA370006908 rs1584980804	9	A>V		No	ClinGen Ensembl
CA4570677 rs765424324	10	K>N		No	ClinGen ExAC gnomAD
CA370006919 rs1220744751	11	G>D		No	ClinGen gnomAD
rs532477386 CA4570679	12	A>T		No	ClinGen ExAC TOPMed gnomAD
CA4570680 rs764527253	13	D>Y		No	ClinGen ExAC gnomAD
CA4570682 rs757620826	15	F>L		No	ClinGen ExAC TOPMed gnomAD
CA4570681 rs751878725	15	F>S		No	ClinGen ExAC gnomAD
CA4570683 rs767146803	16	C>F		No	ClinGen ExAC gnomAD
CA370006956 rs144338125	17	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs144338125 CA4570684	17	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs387907524 CA216321 RCV000054703	18	P>L		No	ClinGen ClinVar Ensembl dbSNP
CA4570716 rs768793193	18	P>T		No	ClinGen ExAC gnomAD
CA370007720 rs1232687109	19	E>G		No	ClinGen gnomAD
CA4570718 rs762356954	20	P>L		No	ClinGen ExAC gnomAD
CA4570717 rs147352167	20	P>S		No	ClinGen ESP ExAC gnomAD
CA169084051 TCGA novel rs1034515158	21	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen TOPMed
rs772590495 CA4570719	21	E>G		No	ClinGen ExAC gnomAD
CA216323 RCV000054704 rs387907525	21	E>K		No	ClinGen ClinVar Ensembl dbSNP
rs974648681 CA370007739	22	S>R		No	ClinGen TOPMed gnomAD
rs773589347 CA4570720	23	L>S		No	ClinGen ExAC gnomAD
CA370007757 rs1269155818	25	P>R		No	ClinGen gnomAD
CA370007753 rs1210105979	25	P>S		No	ClinGen gnomAD
VAR_025168 rs2303929 CA4570721	26	G>E		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1199210740 CA370007760	26	G>R		No	ClinGen TOPMed
CA370007763 rs2303929	26	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs766002195 CA4570722	27	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs764877391 CA4570725	29	G>A		No	ClinGen ExAC gnomAD
rs376056989 RCV000054706 CA216327	32	E>K		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA4570727 rs777601648	33	Q>K		No	ClinGen ExAC gnomAD
rs751300355 CA370007803	33	Q>P		No	ClinGen ExAC TOPMed gnomAD
CA4570728 rs751300355	33	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA4570729 rs201900819	34	E>G		No	ClinGen ExAC gnomAD
rs1448238203 CA370007808	34	E>Q		No	ClinGen TOPMed
rs1325740256 CA370007827	36	D>G		No	ClinGen TOPMed gnomAD
rs1300689976 CA370007839	38	L>F		No	ClinGen Ensembl
CA370007850 rs1243025651	39	H>Q		No	ClinGen gnomAD
CA4570732 rs202031221	40	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs778916169 CA4570733	40	R>H		No	ClinGen ExAC gnomAD
rs778916169 CA370007855	40	R>L		No	ClinGen ExAC gnomAD
CA370007861 rs1456948401	41	T>I		No	ClinGen TOPMed
rs1456948401 CA370007859	41	T>N		No	ClinGen TOPMed
CA4570735 rs201395860	44	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4570736 rs773608940	45	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1441514446 CA370007887	46	R>Q		No	ClinGen TOPMed
CA370007886 rs1179019570	46	R>W		No	ClinGen TOPMed
TCGA novel	49	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761089682 CA4570737	49	E>G		No	ClinGen ExAC gnomAD
CA370007906 rs1584983813	49	E>K		No	ClinGen Ensembl
CA4570739 rs200166093	52	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
rs775012708 CA169084114	53	E>K		No	ClinGen Ensembl
TCGA novel	54	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA370007945 rs1209119628	55	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1165678568 CA370007955	56	S>C		No	ClinGen gnomAD
rs1165678568 CA370007954	56	S>Y		No	ClinGen gnomAD
CA4570742 rs775100452	57	R>C		No	ClinGen ExAC TOPMed gnomAD
rs151104072 CA4570743	57	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs764032985 CA4570744	59	G>R		No	ClinGen ExAC gnomAD
TCGA novel	63	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA370008003 rs1173184337	64	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA370008011 rs1379824663	65	S>T		No	ClinGen TOPMed
CA370008021 rs1584983888	66	Y>*		No	ClinGen Ensembl
rs1299846476 CA370008027	67	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
TCGA novel	68	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	83	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1282527078 CA370008376	84	P>L		No	ClinGen TOPMed gnomAD
CA370008437 rs1584984232	87	T>I		No	ClinGen Ensembl
CA4570768 rs755920646	89	L>R		No	ClinGen ExAC
CA4570770 rs752987007	91	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed
rs1476549849 CA370008503	91	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1338330335 CA370008529	92	D>E		No	ClinGen TOPMed
CA4570772 rs1050701	92	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4570771 rs369471218	92	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1396368607 CA370008542	93	A>G		No	ClinGen TOPMed
rs747131908 CA4570773	93	A>S		No	ClinGen ExAC TOPMed gnomAD
rs757660893 CA4570774	94	R>C		No	ClinGen ExAC TOPMed gnomAD
rs576959402 CA4570775	94	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs746176171 CA4570776	95	R>C		No	ClinGen ExAC gnomAD
COSM1087360 rs770338798 CA4570777	95	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA370008581 rs1428285642	96	R>C		No	ClinGen gnomAD
rs562397040 CA4570779	96	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA370008587 rs1220827288	97	K>E		No	ClinGen gnomAD
CA4570780 rs768379020	97	K>R		No	ClinGen ExAC TOPMed gnomAD
CA4570782 rs761391947	99	P>L		No	ClinGen ExAC gnomAD
CA169084259 rs578099424	101	G>V		No	ClinGen TOPMed gnomAD
rs200136458 CA169084262	102	P>A		No	ClinGen 1000Genomes
CA4570783 rs146857685	102	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	102	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760461430 CA4570785	104	R>Q		No	ClinGen ExAC gnomAD
rs773194897 CA4570784 COSM452632	104	R>W	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs766199915 CA370008842	106	P>A		No	ClinGen ExAC gnomAD
CA4570787 rs752891100	106	P>L		No	ClinGen ExAC gnomAD
rs766199915 CA4570786	106	P>T		No	ClinGen ExAC gnomAD
rs145741704 CA4570788	107	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA370008898 rs1409588516	108	R>W		No	ClinGen gnomAD
CA4570789 rs376128987	109	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA4570791 rs138202021	109	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4570790 rs138202021	109	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs149126957 CA4570792	110	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs149126957 CA370008959	110	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs756526499 CA4570794	112	A>P		No	ClinGen ExAC TOPMed gnomAD
CA169084290 rs925476681	113	S>F		No	ClinGen Ensembl
rs200121811 CA4570795	114	P>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	114	P>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA370009046 rs1306734405	114	P>S		No	ClinGen TOPMed
CA4570797 rs768127857	115	T>I		No	ClinGen ExAC gnomAD
rs1332188346 CA370009101	116	G>A		No	ClinGen TOPMed
rs1352968731 CA370009160	118	T>S		No	ClinGen gnomAD
rs1283845274 CA370009184	119	P>L		No	ClinGen TOPMed gnomAD
CA4570798 rs778645457	119	P>T		No	ClinGen ExAC
CA370009208 rs1322633619	121	I>L		No	ClinGen TOPMed gnomAD
rs1322633619 CA370009211	121	I>V		No	ClinGen TOPMed gnomAD
rs1063531 CA4570799	122	E>V		No	ClinGen ExAC gnomAD
CA370009309 rs1468411619	124	G>E		No	ClinGen gnomAD
rs558761976 CA4570800	124	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4570802 rs760651726	125	E>G		No	ClinGen ExAC gnomAD
CA4570801 rs773104836	125	E>K		No	ClinGen ExAC gnomAD
TCGA novel	125	E>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760651726 CA370009327	125	E>V		No	ClinGen ExAC gnomAD
CA370009334 rs1468168424	126	E>K		No	ClinGen TOPMed gnomAD
rs1157562323 CA370009358	127	D>N		No	ClinGen gnomAD
rs1162498507 CA370009447	129	D>E		No	ClinGen gnomAD
CA4570803 rs770874767	129	D>V		No	ClinGen ExAC TOPMed gnomAD
rs1393505676 CA370009474	130	E>D		No	ClinGen gnomAD
CA370009487 rs1447368336	131	A>P		No	ClinGen gnomAD
CA4570804 rs776366399	133	E>D		No	ClinGen ExAC gnomAD
CA370009594 rs1584984557	133	E>G		No	ClinGen Ensembl
rs1337556616 CA370009577	133	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA4570805 rs370759057	136	G>A		No	ClinGen ESP ExAC gnomAD
rs751865233 CA370009741	138	R>L		No	ClinGen ExAC gnomAD
CA4570807 rs751865233	138	R>Q		No	ClinGen ExAC gnomAD
rs373812974 CA4570806	138	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA370009747 rs1271628682	139	A>S		No	ClinGen gnomAD
CA370009762 rs1201018255	139	A>V		No	ClinGen TOPMed
CA370009767 rs201550213	140	L>I		No	ClinGen ExAC TOPMed gnomAD
CA4570809 rs201550213	140	L>V		No	ClinGen ExAC TOPMed gnomAD
CA370009791 rs1275727298	141	T>A		No	ClinGen TOPMed gnomAD
rs1436645446 CA370009812	142	Q>*		No	ClinGen gnomAD
rs1436645446 CA370009811	142	Q>E		No	ClinGen gnomAD
CA370009845 rs1180447527	143	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs949622770 CA169084331	145	P>L		No	ClinGen gnomAD
rs780710637 CA4570812	146	V>I		No	ClinGen ExAC TOPMed gnomAD
rs780710637 CA370009888	146	V>L		No	ClinGen ExAC TOPMed gnomAD
CA370009902 rs1377301816	147	S>T		No	ClinGen TOPMed
CA370009924 rs1465961473	148	T>A		No	ClinGen gnomAD
CA370009938 rs1169515310	148	T>I		No	ClinGen TOPMed gnomAD
CA4570813 rs754094807	149	P>T		No	ClinGen ExAC gnomAD
rs755431871 CA370009975	150	S>C		No	ClinGen ExAC gnomAD
CA4570814 rs755431871	150	S>F		No	ClinGen ExAC gnomAD
CA4570815 rs148052627	151	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs148052627 CA370009986	151	S>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA4570838 rs375275245	154	F>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs147187611 CA4570839	159	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs745856131 CA4570840	160	D>E		No	ClinGen ExAC gnomAD
rs1584984935 CA370010330	160	D>N		No	ClinGen Ensembl
CA4570841 rs769452530	161	S>G		No	ClinGen ExAC gnomAD
rs775316823 CA4570842	161	S>N		No	ClinGen ExAC gnomAD
rs368228324 CA4570843	162	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA370010436 rs772362382	163	D>E		No	ClinGen ExAC gnomAD
CA4570847 rs142748851	164	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs138877524 CA4570845	164	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs925382388 CA169084424	165	K>M		No	ClinGen Ensembl
TCGA novel CA370010490 rs1563343732	165	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
TCGA novel	168	R>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA370010541 rs1439407372	168	R>K		No	ClinGen gnomAD
TCGA novel	172	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1220833760 CA370010680	174	P>R		No	ClinGen TOPMed
rs1279269694 CA370010670	174	P>S		No	ClinGen TOPMed
CA4570850 rs765691708	178	P>L		No	ClinGen ExAC gnomAD
rs555954799 CA4570849	178	P>T		No	ClinGen 1000Genomes ExAC gnomAD
CA370010819 rs1218313758	180	Q>H		No	ClinGen TOPMed
rs1276320002 CA370010802	180	Q>K		No	ClinGen TOPMed
TCGA novel	181	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201141316 CA4570851	182	A>V	Variant assessed as Somatic; 9.239e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA4570853 rs763721887	184	P>S		No	ClinGen ExAC gnomAD
rs182549949 CA4570855	185	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs751279384 CA4570854	185	R>W		No	ClinGen ExAC gnomAD
VAR_087349	186	A>T	found in a patient with autosomal recessive osteopetrosis; unknown pathological significance; reduced chloride:bicarbonate antiporter activity; impaired dynamic organization of podosome in osteoclasts; failure to rescue impaired osteoclast differentiation when expressed in a Slc4a2-knockdown mouse macrophage cell line RAW 264.7 [UniProt]	No	UniProt
TCGA novel	188	K>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA370011004 rs1362277953	190	A>S		No	ClinGen gnomAD
rs368771464 CA4570857	192	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA370011069 rs756015167	193	G>E		No	ClinGen ExAC TOPMed gnomAD
rs756015167 CA4570858	193	G>V		No	ClinGen ExAC TOPMed gnomAD
rs997466181 CA169085241	194	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA169085238 rs997466181	194	T>N		No	ClinGen TOPMed gnomAD
CA370011901 rs997466181	194	T>S		No	ClinGen TOPMed gnomAD
CA4570871 rs537018427	196	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA370011915 rs1490767351	197	E>K		No	ClinGen TOPMed
rs199537782 CA370011934	199	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs199537782 CA4570875	199	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA370011947 rs1181615615	201	A>E		No	ClinGen gnomAD
rs1474388608 CA370011944	201	A>T		No	ClinGen TOPMed gnomAD
COSM1087364 CA370011949 rs1181615615	201	A>V	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
CA169085285 rs2229551 VAR_025169	202	E>V		No	ClinGen UniProt ESP TOPMed dbSNP
CA4570878 rs761405189	203	A>V		No	ClinGen ExAC TOPMed gnomAD
CA4570880 rs369100379	204	V>A		No	ClinGen ESP ExAC gnomAD
CA169085293 rs369100379	204	V>E		No	ClinGen ESP ExAC gnomAD
rs755639002 CA370011971	205	A>G		No	ClinGen ExAC TOPMed gnomAD
CA4570881 rs755639002	205	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1289200643 CA370011976	206	V>E		No	ClinGen gnomAD
CA370011973 rs1413843914	206	V>M		No	ClinGen gnomAD
rs1212688332 CA370011979	207	A>T		No	ClinGen gnomAD
rs1294790300 CA370011984	207	A>V		No	ClinGen gnomAD
rs1235112629 CA370011991	208	S>R		No	ClinGen gnomAD
rs754802714 CA4570884	209	G>C		No	ClinGen ExAC
rs778805240 CA4570885	209	G>D		No	ClinGen ExAC gnomAD
CA370011998 rs1209719446	210	T>A		No	ClinGen gnomAD
rs1243008118 CA370012002	210	T>I		No	ClinGen gnomAD
rs781279800 CA4570888	211	A>G		No	ClinGen ExAC gnomAD
rs1185218727 CA370012005	211	A>T		No	ClinGen TOPMed gnomAD
rs781279800 CA370012007	211	A>V		No	ClinGen ExAC gnomAD
rs1392770007 CA370012011	212	G>A		No	ClinGen TOPMed gnomAD
CA4570889 rs542333563	212	G>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1392770007 CA370012012	212	G>V		No	ClinGen TOPMed gnomAD
CA4570890 rs201747636	213	G>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA370012016 rs201747636	213	G>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs753365288 CA169085313	213	G>S		No	ClinGen TOPMed
CA4570892 rs763497586	214	D>N		No	ClinGen ExAC
CA4570893 rs763497586	214	D>Y		No	ClinGen ExAC
CA4570895 rs762099826	215	D>N		No	ClinGen ExAC TOPMed gnomAD
RCV000054705 rs375977483 CA216325	216	G>R		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs970939987 CA169085324	217	G>D		No	ClinGen TOPMed
CA370012037 rs1371625825	217	G>S		No	ClinGen gnomAD
CA370012044 rs970939987	217	G>V		No	ClinGen TOPMed
TCGA novel	218	A>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA169085329 rs999056267	219	S>L		No	ClinGen TOPMed gnomAD
rs760204657 CA4570897	221	R>C		No	ClinGen ExAC gnomAD
CA169085334 rs1031328236	221	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA169085336 rs17852578	222	P>H		No	ClinGen Ensembl
rs1319018888 CA370012104	224	P>L		No	ClinGen gnomAD
CA370012114 rs1214069829	225	K>T		No	ClinGen gnomAD
TCGA novel	228	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA169085340 rs957017539	228	P>S		No	ClinGen gnomAD
CA169085342 rs1011219539	230	H>Y		No	ClinGen Ensembl
rs1250548225 CA370012192	231	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1460049943 CA370012207	232	S>T		No	ClinGen TOPMed
rs1477418637 CA370012301	237	E>K		No	ClinGen gnomAD
rs1409703503 CA370012393	240	R>C		No	ClinGen gnomAD
CA4570899 rs753426372	246	G>R		No	ClinGen ExAC gnomAD
CA370012565 rs1462902777	247	A>T		No	ClinGen gnomAD
CA4570900 rs754930320	249	Q>E		No	ClinGen ExAC
CA370012624 rs1271387173	249	Q>H		No	ClinGen TOPMed
rs1214374350 CA370012645	251	L>V		No	ClinGen TOPMed
rs778995423 CA4570901	253	P>H		No	ClinGen ExAC gnomAD
CA370012725 rs1375769310	254	R>Q		No	ClinGen TOPMed gnomAD
rs752478649 CA4570902	254	R>W		No	ClinGen ExAC gnomAD
CA370012768 rs1584987558	255	V>G		No	ClinGen Ensembl
rs1222318879 CA370012793	256	P>S		No	ClinGen gnomAD
CA4570904 rs781469259	260	I>T		No	ClinGen ExAC gnomAD
rs373172302 CA4570903	260	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA370012958 rs1271832780	263	Q>*		No	ClinGen gnomAD
TCGA novel	263	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1271832780 CA370012952	263	Q>K		No	ClinGen gnomAD
rs928448411 CA169085360	264	T>M		No	ClinGen gnomAD
CA370013004 rs1584987605	265	L>P		No	ClinGen Ensembl
CA370013019 rs1468247021	266	A>T		No	ClinGen gnomAD
CA370013080 rs1162606471	269	D>N		No	ClinGen gnomAD
CA169085364 rs866020615	271	D>Y		No	ClinGen Ensembl
rs1389904122 CA370013168	272	L>F		No	ClinGen gnomAD
CA370013465 rs1227004334	281	V>A		No	ClinGen gnomAD
rs1340748095 CA370013449	281	V>I		No	ClinGen gnomAD
CA370013538 rs1301030729	286	R>W		No	ClinGen TOPMed
rs780268615 CA4570924	289	V>L		No	ClinGen ExAC gnomAD
rs147367965 CA4570926	290	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1449276 CA4570925 rs749356650	290	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA370013615 rs1240283977	291	K>R		No	ClinGen gnomAD
rs779362663 CA4570927	293	A>V		No	ClinGen ExAC gnomAD
CA4570928 rs748655425	294	K>Q		No	ClinGen ExAC gnomAD
CA370013672 rs1436777218	295	G>S		No	ClinGen gnomAD
CA370013685 rs1166786428	295	G>V		No	ClinGen TOPMed
CA4570930 rs533465790 COSM1549234	298	Q>H	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA4570929 rs368970637	298	Q>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs747408187 CA4570931	299	S>G		No	ClinGen ExAC gnomAD
CA4570932 rs770647125	299	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1363610478 CA370013787	300	G>D		No	ClinGen TOPMed gnomAD
rs753327629 CA169085500	301	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA169085515 rs199803375	301	R>P		No	ClinGen 1000Genomes gnomAD
rs199803375 CA169085505	301	R>Q		No	ClinGen 1000Genomes gnomAD
rs756928507 CA169085518	302	E>G		No	ClinGen Ensembl
CA370013841 rs1349445432	303	G>W		No	ClinGen TOPMed gnomAD
CA4570934 rs759110133	304	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs371485247 CA4570933	304	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA4570935 rs764877404	305	E>K		No	ClinGen ExAC gnomAD
rs563321858 CA4570936	307	G>V		No	ClinGen 1000Genomes ExAC gnomAD
rs764123644 CA4570938	308	P>H		No	ClinGen ExAC TOPMed gnomAD
rs764123644 CA370013878	308	P>L		No	ClinGen ExAC TOPMed gnomAD
CA4570937 rs762747508	308	P>S		No	ClinGen ExAC gnomAD
TCGA novel	310	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1455643345 CA370013901	310	P>S		No	ClinGen gnomAD
CA4570941 rs139095314	311	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs35016052 VAR_025170 CA4570940	311	R>W		No	ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	313	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs369481627 CA4570942	313	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA4570943 rs755029670	314	P>R		No	ClinGen ExAC TOPMed gnomAD
CA370013942 rs1345840479	314	P>T		No	ClinGen TOPMed
CA4570945 rs529335890	315	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs529335890 CA4570944	315	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1386942648 CA370013955	315	R>W		No	ClinGen gnomAD
rs778361312 CA4570947	316	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1384566984 CA370013988	317	P>L		No	ClinGen gnomAD
CA169085568 rs376881281	318	H>D		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA4570948 rs376881281	318	H>N		No	ClinGen 1000Genomes ESP ExAC gnomAD
TCGA novel	318	H>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771485279 CA4570949	319	K>E		No	ClinGen ExAC gnomAD
rs1563348080 CA370014018	319	K>N		No	ClinGen Ensembl
rs1563348095 CA370014021	320	P>T		No	ClinGen Ensembl
rs373221772 CA4570970	323	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1422544125 CA370015124	325	V>A		No	ClinGen gnomAD
CA370015192 rs1158626894	328	N>S		No	ClinGen TOPMed
rs1164723783 CA370015264	331	L>I		No	ClinGen TOPMed gnomAD
CA4570972 rs768254065	334	K>E		No	ClinGen ExAC gnomAD
CA169087408 rs941128850	335	N>H		No	ClinGen TOPMed
COSM452633 rs1038026252 CA169087414	337	E>K	Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs573186650 CA4570975	339	Q>H		No	ClinGen 1000Genomes ExAC gnomAD
CA4570974 rs761691830	339	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA370015589 rs1247751999	341	R>Q		No	ClinGen TOPMed
rs868559894 CA169087420	341	R>W		No	ClinGen Ensembl
rs1314444124 CA370015644	343	T>I		No	ClinGen gnomAD
CA370015885 rs1376730238	350	E>K		No	ClinGen gnomAD
TCGA novel	351	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4570978 rs765367393	353	V>M		No	ClinGen ExAC TOPMed gnomAD
rs775844404 CA4570979	355	E>G		No	ClinGen ExAC gnomAD
CA4570980 rs762907091	356	E>D		No	ClinGen ExAC gnomAD
CA370016244 rs757797132	358	E>D		No	ClinGen ExAC TOPMed gnomAD
CA4570982 COSM1087365 rs751708693	358	E>K	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1482490306 CA370016265	359	R>H		No	ClinGen gnomAD
CA370016342 rs1584989495	360	W>*		No	ClinGen Ensembl
CA4570985 rs750757384 COSM1087366	365	V>M	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1563349658 CA370016552	367	S>P		No	ClinGen Ensembl
CA370016575 rs1368247911	368	L>F		No	ClinGen TOPMed
rs1434898605 CA370016596	369	S>P		No	ClinGen gnomAD
TCGA novel	370	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA370016623 rs1175141482	370	F>S		No	ClinGen gnomAD
CA169087467 rs969172556	371	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA4570987 rs779541434	372	S>N		No	ClinGen ExAC gnomAD
CA169087471 rs980296842	373	L>F		No	ClinGen Ensembl
CA169087486 rs565416503	379	T>I		No	ClinGen 1000Genomes TOPMed gnomAD
rs763992060 CA169087483	379	T>S		No	ClinGen Ensembl
CA169087491 rs891255042	381	A>V		No	ClinGen TOPMed
rs1324783464 CA370019291	384	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA4571012 rs747013335	385	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1369997070 CA370019300	385	V>M		No	ClinGen TOPMed gnomAD
rs745653164 CA4571015	391	Q>E		No	ClinGen ExAC gnomAD
TCGA novel	392	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1435955260 CA370019488	392	Q>E		No	ClinGen gnomAD
CA4571016 rs768940325	392	Q>R		No	ClinGen ExAC gnomAD
CA370019540 rs1156805054	394	L>V		No	ClinGen TOPMed
rs761953287 CA4571018	396	G>R		No	ClinGen ExAC TOPMed gnomAD
CA370019641 rs1563353379	399	H>Q		No	ClinGen Ensembl
rs773449209 CA4571020	399	H>R		No	ClinGen ExAC gnomAD
rs1179371413 CA370019681	401	V>M		No	ClinGen TOPMed
CA4571022 rs766803867	402	V>M		No	ClinGen ExAC gnomAD
rs1251424578 CA370019794	405	M>L		No	ClinGen TOPMed
TCGA novel	406	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA169088646 rs750184481	412	K>E		No	ClinGen Ensembl
rs1481903966 CA370020016	412	K>R		No	ClinGen gnomAD
rs1181146275 CA370020037	413	A>T		No	ClinGen TOPMed gnomAD
TCGA novel	414	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA370020065 rs1161404041	414	E>G		No	ClinGen gnomAD
CA4571026 rs752382376	414	E>K		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	415	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4571028 rs777213196	416	R>K		No	ClinGen ExAC gnomAD
rs143881390 CA4571030	417	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA169088667 rs995098756	417	A>T		No	ClinGen TOPMed
rs143881390 CA4571029	417	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1408278895 CA370020160	418	N>I		No	ClinGen gnomAD
CA4571033 rs769777756	419	V>M		No	ClinGen ExAC TOPMed gnomAD
rs966914897 CA169088704	421	R>Q		No	ClinGen Ensembl
CA4571034 rs779255145	421	R>W		No	ClinGen ExAC gnomAD
CA370020351 rs1204024839	427	H>Q		No	ClinGen gnomAD
CA169088780 rs967239674	432	D>N		No	ClinGen TOPMed gnomAD
rs1166770479 CA370020631	435	D>N		No	ClinGen gnomAD
CA4571053 rs772364528	436	F>V		No	ClinGen ExAC gnomAD
rs1458171316 CA370020673	437	S>F		No	ClinGen gnomAD
rs747111630 CA4571056	439	P>S		No	ClinGen ExAC gnomAD
rs548308997 CA4571057	440	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA370020720 rs1563354117	440	R>H		No	ClinGen Ensembl
rs940543055 CA169088827	441	N>D		No	ClinGen Ensembl
rs1301417988 CA370020762	442	I>M		No	ClinGen gnomAD
CA370020748 rs1584993012	442	I>V		No	ClinGen Ensembl
CA4571058 rs777169604	444	A>P		No	ClinGen ExAC gnomAD
CA169088831 rs1050703	447	L>V		No	ClinGen gnomAD
CA370020982 rs770312872	454	H>Q		No	ClinGen ExAC gnomAD
TCGA novel	454	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4571063 rs763318290	455	H>L		No	ClinGen ExAC gnomAD
CA4571062 rs763318290	455	H>R		No	ClinGen ExAC gnomAD
CA4571061 rs775762098	455	H>Y		No	ClinGen ExAC gnomAD
CA4571064 rs146845870	456	G>D		No	ClinGen ESP ExAC gnomAD
rs1464436520 CA370021016	456	G>S		No	ClinGen gnomAD
TCGA novel	456	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1300028593 CA370021070	458	G>R		No	ClinGen TOPMed
CA4571065 rs568479380	459	A>S		No	ClinGen 1000Genomes ExAC gnomAD
rs140685664 CA4571066	459	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA370021117 rs749981018	460	E>K		No	ClinGen ExAC gnomAD
CA4571067 rs749981018	460	E>Q		No	ClinGen ExAC gnomAD
rs1377355203 CA370021132	460	E>V		No	ClinGen gnomAD
CA370021178 rs1584993085	462	D>A		No	ClinGen Ensembl
CA370021167 rs1161897061	462	D>N		No	ClinGen gnomAD
CA370021236 rs756050972	464	H>P		No	ClinGen ExAC TOPMed gnomAD
rs756050972 CA4571068	464	H>R		No	ClinGen ExAC TOPMed gnomAD
rs754890587 CA4571071	465	V>D		No	ClinGen ExAC gnomAD
rs753675037 CA4571070	465	V>I		No	ClinGen ExAC TOPMed gnomAD
CA370021287 rs1322480591	466	T>P		No	ClinGen gnomAD
rs761340739 CA169088891	467	E>K		No	ClinGen TOPMed gnomAD
CA370021341 rs1286283478	469	L>F		No	ClinGen gnomAD
CA169088902 rs368812086	470	M>I		No	ClinGen ESP
rs1328353716 CA370021356	470	M>L		No	ClinGen gnomAD
CA4571075 rs372176697	471	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA4571077 rs770226560	472	G>S		No	ClinGen ExAC gnomAD
CA4571078 rs576620618	473	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA169088934 rs144407219	474	P>H		No	ClinGen ESP TOPMed
rs201949159 CA4571079	475	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA4571081 rs151050019	477	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA4571082 rs151050019	477	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA4571080 rs768941565	477	R>W		No	ClinGen ExAC TOPMed gnomAD
CA4571083 rs767205139	479	E>G		No	ClinGen ExAC gnomAD
rs1584993197 CA370021626	480	V>G		No	ClinGen Ensembl
COSM1087370 rs772792069 CA4571084	482	R>*	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA4571085 rs760317432	482	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs756857982 CA169089138	484	R>C		No	ClinGen gnomAD
CA370021805 rs756857982	484	R>S		No	ClinGen gnomAD
rs968024406 CA169089155	486	L>P		No	ClinGen TOPMed
CA4571121 rs753919073	487	P>A		No	ClinGen ExAC TOPMed gnomAD
CA4571122 rs369502348	487	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs576277176 CA4571126	488	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs772524567 CA4571125	488	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs898974391 CA169089192	490	A>T		No	ClinGen TOPMed gnomAD
rs776217848 CA4571129	492	P>S		No	ClinGen ExAC gnomAD
rs779508789 CA169089214	493	A>T		No	ClinGen Ensembl
CA4571132 rs775566263	497	R>C		No	ClinGen ExAC gnomAD
CA4571133 rs762626632	497	R>H		No	ClinGen ExAC gnomAD
rs763926347 CA4571134	498	S>F		No	ClinGen ExAC TOPMed gnomAD
rs890335142 CA169089231	498	S>P		No	ClinGen gnomAD
CA4571136 rs760819488	502	H>Y		No	ClinGen ExAC gnomAD
rs1414066068 CA370022019	503	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1008183663 CA169089251	508	E>G		No	ClinGen Ensembl
CA169089254 rs1020033013	511	P>R		No	ClinGen Ensembl
CA4571137 rs766601043	514	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1242916436 CA370022224	521	V>M		No	ClinGen gnomAD
rs1584993876 CA370022316	523	C>R		No	ClinGen Ensembl
CA4571171 rs377555520	524	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA370022357 rs1208845256	525	E>D		No	ClinGen TOPMed
CA4571172 rs747904444	525	E>Q		No	ClinGen ExAC gnomAD
rs370624060 CA4571174	529	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs374798576 CA4571175	529	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA4571177 rs775586576	531	T>N		No	ClinGen ExAC gnomAD
rs752153975 CA4571180	536	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs764697554 CA4571179	536	R>W		No	ClinGen ExAC gnomAD
CA4571182 rs138941705	538	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA4571181 rs146252856	538	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA4571183 rs750785312	539	E>K		No	ClinGen ExAC gnomAD
CA4571185 rs779631115	542	E>V		No	ClinGen ExAC gnomAD
CA370022668 rs1394989140	545	A>S		No	ClinGen TOPMed
CA370022697 rs1379254724	546	V>A		No	ClinGen TOPMed
TCGA novel	549	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4571187 rs754521751	550	P>L		No	ClinGen ExAC gnomAD
rs1353493677 VAR_087350 CA370022857	553	V>A	found in a patient with autosomal recessive osteopetrosis; unknown pathological significance; reduced chloride:bicarbonate antiporter activity; impaired dynamic organization of podosome in osteoclasts; failure to rescue impaired osteoclast differentiation when expressed in a Slc4a2-knockdown mouse macrophage cell line RAW 264.7 [UniProt]	No	ClinGen TOPMed UniProt
rs1460159832 CA370022845	553	V>M		No	ClinGen TOPMed
CA169089448 rs944620027	554	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1416602106 CA370022870	554	R>H		No	ClinGen gnomAD
rs746797361 CA4571192	563	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1584994068 CA370023032	565	A>T		No	ClinGen Ensembl
TCGA novel	566	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4571194 rs775644358	572	I>N		No	ClinGen ExAC gnomAD
CA370023168 rs1275160083	574	R>H		No	ClinGen gnomAD
TCGA novel	575	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA370023212 rs1309420836	578	T>P		No	ClinGen TOPMed gnomAD
CA4571196 rs768907411	580	M>K		No	ClinGen ExAC gnomAD
CA370023240 rs1221529279	580	M>V		No	ClinGen gnomAD
CA4571197 rs774597714	582	D>H		No	ClinGen ExAC gnomAD
rs1209405100 CA370023283	583	K>E		No	ClinGen gnomAD
rs746819091 CA4571209	584	Q>P		No	ClinGen ExAC gnomAD
rs55770427 CA4571211	587	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA4571212 rs55770427	587	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs769032302 CA370023413	588	A>S		No	ClinGen ExAC TOPMed gnomAD
rs769032302 CA4571213	588	A>T		No	ClinGen ExAC TOPMed gnomAD
CA370023426 rs1362634496	589	A>T		No	ClinGen gnomAD
rs1452413255 CA370023440	589	A>V		No	ClinGen gnomAD
CA370023452 rs1584994391	590	Y>S		No	ClinGen Ensembl
CA4571214 rs774505975	591	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1422397171 CA370023476	593	D>H		No	ClinGen TOPMed gnomAD
rs1422397171 CA370023478	593	D>N		No	ClinGen TOPMed gnomAD
CA4571217 rs773631691	594	E>G		No	ClinGen ExAC
rs772627092 CA4571216	594	E>K		No	ClinGen ExAC gnomAD
CA4571218 rs761077150	595	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA370023507 rs1411514963	595	R>W		No	ClinGen gnomAD
rs1198623922 CA370023533	596	E>D		No	ClinGen TOPMed
rs1266138719 CA370023592	600	T>A		No	ClinGen gnomAD
CA4571221 rs759118547	600	T>M		No	ClinGen ExAC gnomAD
CA370023617 rs1291408759	601	A>G		No	ClinGen gnomAD
CA4571223 rs371276430	603	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs764063693 CA4571225	604	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1241633535 CA370023760	609	S>G		No	ClinGen TOPMed
CA4571228 rs781096714	610	V>M	Variant assessed as Somatic; 4.715e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA4571230 rs755194297	617	V>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA169089652 rs911715783	618	Q>K		No	ClinGen Ensembl
rs748227325 CA4571232	620	E>K		No	ClinGen ExAC gnomAD
CA169089660 rs978201327	621	E>K		No	ClinGen TOPMed gnomAD
CA4571234 rs555952741	624	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM1087373 CA4571235 rs201086697	624	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA370024020 rs201086697	624	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA370024011 rs555952741	624	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1314628460 CA370024035 COSM1449279	626	V>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1343191029 CA370024049	627	A>T		No	ClinGen gnomAD
rs1207038366 CA370024061	627	A>V		No	ClinGen gnomAD
CA169089667 rs935339503	628	H>P		No	ClinGen Ensembl
rs1249997507 CA370024070	628	H>Y		No	ClinGen TOPMed gnomAD
rs370325908 CA4571236	631	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs370325908 CA370024133	631	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA4571237 rs776918935	631	R>H		No	ClinGen ExAC TOPMed gnomAD
CA4571238 rs776918935	631	R>L		No	ClinGen ExAC TOPMed gnomAD
rs764869013 CA4571239	632	Q>*		No	ClinGen ExAC gnomAD
rs775049209 CA4571240	632	Q>R		No	ClinGen ExAC gnomAD
TCGA novel	633	M>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA169089681 rs916701727	637	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA4571241 rs535363633	637	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA370024287 rs1168014295	639	E>G		No	ClinGen gnomAD
CA4571242 rs763466340	640	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1466436498 CA370024326	641	G>D		No	ClinGen gnomAD
rs751114100 CA4571243	642	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA169089700 rs186757015	642	R>W		No	ClinGen 1000Genomes gnomAD
rs1336218465 CA370024371	646	T>A		No	ClinGen TOPMed gnomAD
rs1366140983 CA370024378	646	T>I		No	ClinGen TOPMed gnomAD
rs1366140983 CA370024377	646	T>R		No	ClinGen TOPMed gnomAD
CA4571244 rs757078510	647	G>A		No	ClinGen ExAC gnomAD
CA370024403 rs1307296692	649	G>R		No	ClinGen TOPMed gnomAD
rs1584994762 CA370024424	650	L>P		No	ClinGen Ensembl
CA4571245 rs767576624	651	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1341073925 CA370024476	653	K>R		No	ClinGen TOPMed
rs1279992132 CA370024499	654	S>Y		No	ClinGen TOPMed
CA4571247 rs756012422	656	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA4571248 rs779255101	657	D>N		No	ClinGen ExAC TOPMed gnomAD
rs779255101 CA169089748	657	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1486607484 CA370024561	658	K>E		No	ClinGen gnomAD
rs993429158 CA169089753	659	A>T		No	ClinGen TOPMed gnomAD
CA4571264 rs760708522	659	A>V		No	ClinGen ExAC TOPMed gnomAD
CA370024662 rs1205687310	660	L>F		No	ClinGen gnomAD
rs1234500187 CA370024666	660	L>H		No	ClinGen gnomAD
CA370024679 rs1468578167	661	L>Q		No	ClinGen gnomAD
rs758489187 CA4571267	663	M>I		No	ClinGen ExAC TOPMed gnomAD
CA370024716 rs1172574511	663	M>V		No	ClinGen gnomAD
CA4571268 rs778110207	664	V>A		No	ClinGen ExAC gnomAD
rs1445407733 CA370024737	664	V>L		No	ClinGen gnomAD
CA4571269 rs202137558	666	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA4571271 rs781651421	667	A>T		No	ClinGen ExAC gnomAD
CA4571272 rs562921530	668	G>W		No	ClinGen 1000Genomes ExAC gnomAD
rs1379280688 CA370024825	669	A>T		No	ClinGen gnomAD
rs759781522 CA4571273	671	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1358333528 CA370024906	675	L>F		No	ClinGen gnomAD
CA4571276 rs768181182	676	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA4571275 rs749678950	676	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA370024918 rs1435964008	677	R>G		No	ClinGen TOPMed gnomAD
rs141701173 CA4571277	677	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1435964008 CA370024920	677	R>W	Variant assessed as Somatic; 5.99e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs761383037 CA4571278	678	T>A		No	ClinGen ExAC TOPMed gnomAD
rs367805901 CA4571279	678	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1406664974 CA370024940	679	G>E		No	ClinGen TOPMed
CA4571281 rs562416008	680	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA370024946 rs1444262993	680	R>W		No	ClinGen gnomAD
CA370024958 rs1422102627	681	P>H		No	ClinGen TOPMed gnomAD
CA4571286 rs759440385	683	G>A		No	ClinGen ExAC TOPMed gnomAD
CA4571284 rs766348973	683	G>R		No	ClinGen ExAC gnomAD
rs759440385 CA4571285	683	G>V		No	ClinGen ExAC TOPMed gnomAD
rs766348973 CA4571283	683	G>W		No	ClinGen ExAC gnomAD
TCGA novel	685	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781213153 CA4571290	686	I>M		No	ClinGen ExAC gnomAD
CA370025002 rs1584995252	686	I>S		No	ClinGen Ensembl
rs756556424 CA4571291	687	R>*		No	ClinGen ExAC TOPMed gnomAD
rs756556424 CA370025508	687	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1045185976 CA169089948	687	R>Q		No	ClinGen gnomAD
CA169089950 rs906580568	689	V>L		No	ClinGen gnomAD
CA370025519 rs906580568	689	V>M		No	ClinGen gnomAD
rs749612580 CA4571293	690	R>Q		No	ClinGen ExAC gnomAD
CA4571292 rs780670662	690	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4571294 rs368741093	691	R>C		No	ClinGen ESP ExAC gnomAD
rs779166485 CA4571295	691	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4571297 rs765272940	692	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4571298 rs772787710	692	R>H		No	ClinGen ExAC TOPMed gnomAD
CA169089974 rs765272940	692	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1216329931 CA370025537	693	Y>C		No	ClinGen gnomAD
rs760315436 CA4571299	693	Y>H		No	ClinGen ExAC gnomAD
CA370025546 rs1354712627	694	P>L		No	ClinGen TOPMed
rs150503454 CA4571300	695	H>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA370025550 rs150503454	695	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA4571301 rs776667817	696	Y>F		No	ClinGen ExAC gnomAD
CA4571302 rs139487289	701	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA370025602 rs1430578614	703	A>T		No	ClinGen gnomAD
rs1471254021 CA370025609	704	L>F		No	ClinGen TOPMed gnomAD
CA4571303 rs765034737	704	L>R		No	ClinGen ExAC gnomAD
rs1471254021 CA370025608	704	L>V		No	ClinGen TOPMed gnomAD
TCGA novel	708	C>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4571304 rs775299796	708	C>F		No	ClinGen ExAC gnomAD
rs200122092 COSM1568520 CA4571306	711	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1324366012 CA370025680	715	I>V		No	ClinGen gnomAD
CA370025691 rs1419750359	716	Y>F		No	ClinGen TOPMed
CA169090043 rs1027302318	719	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA4571310 rs754321141	723	A>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	728	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4571312 rs779270025	729	L>M		No	ClinGen ExAC gnomAD
TCGA novel	734	T>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs146380956 CA4571334	735	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs780691035 CA4571336	740	V>A		No	ClinGen ExAC TOPMed gnomAD
CA4571338 rs769757868	742	E>Q		No	ClinGen ExAC gnomAD
CA370025874 rs1483065491	744	I>V		No	ClinGen TOPMed
rs1239605906 CA370025881 COSM1449280	745	M>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs749053591 CA4571340	747	T>A		No	ClinGen ExAC gnomAD
RCV000054695 CA216305 rs387907519	748	A>S		No	ClinGen ClinVar Ensembl dbSNP
CA4571341 COSM1243619 rs768490315	748	A>V	Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA370025906 rs1265259842	749	L>F		No	ClinGen gnomAD
CA4571343 rs760882275	750	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs771071495 CA4571344	751	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1249109972 CA370025921	751	G>V		No	ClinGen gnomAD
rs139758611 CA4571346	752	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA370025930 rs1309713580	753	V>A		No	ClinGen TOPMed
CA169090208 rs948042659	758	G>S		No	ClinGen Ensembl
rs753304269 CA370025964	759	A>P		No	ClinGen ExAC TOPMed gnomAD
rs753304269 CA370025965	759	A>S		No	ClinGen ExAC TOPMed gnomAD
rs753304269 CA4571348	759	A>T		No	ClinGen ExAC TOPMed gnomAD
rs763579202 CA4571349	760	Q>R		No	ClinGen ExAC gnomAD
TCGA novel	763	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751878390 CA4571353	765	I>M		No	ClinGen ExAC gnomAD
rs1446106411 CA370026017 COSM1226442	766	G>S	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA370026110 rs1584995822	773	V>G		No	ClinGen Ensembl
rs1250092865 CA370026163	777	A>D		No	ClinGen gnomAD
rs1230166940 CA370026157	777	A>T		No	ClinGen gnomAD
CA370026202 rs145359923	780	S>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA4571357 rs145359923	780	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1366290791 CA370026291	783	S>N		No	ClinGen TOPMed
CA370026311 rs1307129947	784	S>N		No	ClinGen gnomAD
CA370026327 rs1165480809	785	N>S		No	ClinGen TOPMed
rs775657214 CA4571383	786	H>Y		No	ClinGen ExAC gnomAD
CA4571384 rs749441767	793	R>H		No	ClinGen ExAC gnomAD
CA370026429 rs1160357129	794	V>L		No	ClinGen gnomAD
TCGA novel	795	W>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1379871697 CA370026474	797	G>S		No	ClinGen TOPMed
rs1584996113 CA370026543	801	V>G		No	ClinGen Ensembl
CA4571389 rs773628238	802	F>L		No	ClinGen ExAC TOPMed gnomAD
CA4571388 rs534566438	802	F>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1421041477 CA370026575	804	A>D		No	ClinGen gnomAD
TCGA novel	804	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1421041477 CA370026579	804	A>V		No	ClinGen gnomAD
CA370026599 rs1379987924	806	L>P		No	ClinGen gnomAD
rs1305367783 TCGA novel CA370026616	807	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen TOPMed gnomAD NCI-TCGA
CA370026604 rs1425652977	807	M>V		No	ClinGen gnomAD
CA169090297 rs901623742	809	A>D		No	ClinGen TOPMed gnomAD
CA370026634 rs1348610185	809	A>S		No	ClinGen gnomAD
TCGA novel	809	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4571390 rs200651187	813	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4571392 rs753341404	815	L>P		No	ClinGen ExAC gnomAD
rs1309499867 CA370026723	817	R>C		No	ClinGen TOPMed
rs754519460 CA4571394	817	R>H		No	ClinGen ExAC TOPMed gnomAD
rs752526026 CA4571396	819	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4571398 rs777367028	821	R>C		No	ClinGen ExAC gnomAD
rs746816423 CA4571399	821	R>H		No	ClinGen ExAC TOPMed gnomAD
CA4571400 rs756395448	822	F>L		No	ClinGen ExAC gnomAD
CA370026803 rs1305059668	823	T>I		No	ClinGen TOPMed
rs377202713 CA4571402	827	F>S		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1087377 rs1412099275 CA370026864	828	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs141439183 CA4571406	834	I>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA370026971 rs1383012558	837	Y>C		No	ClinGen TOPMed gnomAD
TCGA novel	840	F>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1271621391 CA370027025	845	K>E		No	ClinGen TOPMed
rs1400938597 CA370027256	850	H>N		No	ClinGen gnomAD
CA370027259 rs1584998775	850	H>P		No	ClinGen Ensembl
rs373503717 CA169091533	853	H>R		No	ClinGen Ensembl
CA169091551 rs755140491	856	S>A		No	ClinGen ExAC TOPMed gnomAD
rs543796017 CA4571438	856	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs755140491 CA4571437	856	S>P		No	ClinGen ExAC TOPMed gnomAD
CA4571439 rs752687706	857	A>G		No	ClinGen ExAC TOPMed gnomAD
rs148738466 CA4571441	859	N>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA370027347 rs1303656138	860	S>T		No	ClinGen TOPMed
rs1205957684 CA370027357	861	S>P		No	ClinGen gnomAD
CA4571444 rs781475861	865	G>D		No	ClinGen ExAC gnomAD
rs771430465 CA4571443	865	G>S		No	ClinGen ExAC TOPMed gnomAD
CA4571446 rs573998641 COSM3411807	866	G>S	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA370027436 rs775252874	867	E>K		No	ClinGen ExAC gnomAD
CA4571447 rs775252874	867	E>Q		No	ClinGen ExAC gnomAD
CA4571448 rs762347326	868	N>I		No	ClinGen ExAC gnomAD
rs1159938145 CA370027457	868	N>K		No	ClinGen gnomAD
rs896065827 CA169091582	869	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA4571449 rs768233295	869	M>T		No	ClinGen ExAC TOPMed gnomAD
CA370027483 rs1175143493	870	T>R		No	ClinGen TOPMed
CA4571450 rs774031055	871	W>C		No	ClinGen ExAC gnomAD
TCGA novel	872	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4571452 rs767617846	873	G>R		No	ClinGen ExAC TOPMed gnomAD
rs750179564 CA4571453	874	A>E		No	ClinGen ExAC TOPMed gnomAD
rs947505274 CA169091613	875	R>K		No	ClinGen TOPMed
TCGA novel	875	R>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4571455 rs543099788	876	P>H		No	ClinGen 1000Genomes ExAC gnomAD
rs1311694397 CA370027564	876	P>T		No	ClinGen gnomAD
rs796430180 COSM1226441 CA169091632	877	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA4571457 rs758576374	878	L>M		No	ClinGen ExAC gnomAD
CA169091650 rs371127410	879	G>E		No	ClinGen ESP TOPMed
CA4571459 rs200203158	880	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs764091567 CA4571458	880	P>S		No	ClinGen ExAC gnomAD
CA370027735 rs1183419362	883	R>S		No	ClinGen gnomAD
rs781715809 CA4571461	884	S>N		No	ClinGen ExAC TOPMed gnomAD
CA370027803 rs1257764118	886	A>T		No	ClinGen TOPMed
CA370027841 rs1163912462	887	G>E		No	ClinGen gnomAD
CA370027824 rs1438730276	887	G>R		No	ClinGen gnomAD
CA370027877 rs1225563354	889	S>P		No	ClinGen TOPMed
CA4571463 rs756555360	889	S>Y		No	ClinGen ExAC gnomAD
CA370027954 rs1397174656	891	Q>H		No	ClinGen gnomAD
rs748934380 CA4571465	893	K>N		No	ClinGen ExAC gnomAD
rs1308191660 CA370028011	894	P>A		No	ClinGen gnomAD
rs747725245 CA4571468	895	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA4571466 rs545248980	895	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs772100666 CA4571469	896	G>D		No	ClinGen ExAC gnomAD
rs773247185 CA4571470	897	Q>L		No	ClinGen ExAC gnomAD
CA370028068 rs773247185	897	Q>R		No	ClinGen ExAC gnomAD
CA370028264 rs1304055097	906	V>A		No	ClinGen TOPMed gnomAD
rs1304055097 CA370028267	906	V>G		No	ClinGen TOPMed gnomAD
rs1415488169 CA370028255	906	V>M		No	ClinGen TOPMed
rs751635753 CA4571476	907	L>V		No	ClinGen ExAC gnomAD
CA370028304 rs1257915553	908	M>T		No	ClinGen gnomAD
CA4571478 rs767889024	910	G>D		No	ClinGen ExAC gnomAD
CA4571477 rs757368981	910	G>S		No	ClinGen ExAC TOPMed gnomAD
CA370028574 rs1172824484	919	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA169091796 rs922551848	921	F>L		No	ClinGen gnomAD
CA4571480 rs756615069	921	F>L		No	ClinGen ExAC gnomAD
CA370028634 rs1258382144	921	F>S		No	ClinGen TOPMed
rs201714665 CA4571481	923	N>T		No	ClinGen ExAC gnomAD
CA4571483 rs754671694	925	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs376417904 CA4571482	925	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4571484 rs778746006	927	F>L		No	ClinGen ExAC gnomAD
rs1221020470 CA370028831	928	P>A		No	ClinGen gnomAD
rs1276923418 CA370028838	928	P>L		No	ClinGen gnomAD
TCGA novel	928	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4571486 rs771655077	930	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA4571485 rs777711244	930	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1385774187 CA370029093	932	R>W		No	ClinGen gnomAD
rs1584999378 CA370029117	933	R>Q		No	ClinGen Ensembl
rs1307237615 CA370029111	933	R>W		No	ClinGen gnomAD
rs1584999381 CA370029134	934	V>G		No	ClinGen Ensembl
rs1355436583 CA370029160	935	I>T		No	ClinGen TOPMed gnomAD
CA169091958 rs938663558	936	G>R		No	ClinGen TOPMed
rs1237641667 CA370029261	939	G>V		No	ClinGen gnomAD
CA370029304 rs1285055295	941	P>L		No	ClinGen gnomAD
CA370029442 rs1350570350	949	L>F		No	ClinGen TOPMed
rs766884293 CA4571520	950	V>L		No	ClinGen ExAC gnomAD
CA370029469 rs1487527296	951	D>N		No	ClinGen gnomAD
rs1026290631 CA169091982	953	S>G		No	ClinGen Ensembl
rs546247193 CA4571521	953	S>N		No	ClinGen 1000Genomes ExAC gnomAD
rs202145444 CA4571522	954	I>N		No	ClinGen ExAC gnomAD
CA370029664 rs1380090430	957	T>P		No	ClinGen gnomAD
rs1406374172 CA370029691	958	Y>D		No	ClinGen gnomAD
CA4571523 rs765631153	959	T>S		No	ClinGen ExAC TOPMed gnomAD
CA169092117 rs151246307	961	K>N		No	ClinGen ESP TOPMed gnomAD
CA370029911 rs1282240421	963	S>N		No	ClinGen gnomAD
CA4571542 rs775992236	964	V>I		No	ClinGen ExAC TOPMed gnomAD
rs763265092 CA4571543	965	P>S		No	ClinGen ExAC gnomAD
CA370029941 rs1563364141	966	S>G		No	ClinGen Ensembl
rs1420986092 CA370029984	969	S>L		No	ClinGen TOPMed gnomAD
rs1257612544 CA370029994	971	T>A		No	ClinGen gnomAD
rs1443245584 CA370030000	971	T>I		No	ClinGen gnomAD
CA4571545 rs147037103	972	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs766948470 CA4571547	974	E>G		No	ClinGen ExAC gnomAD
rs55729233 CA4571548	975	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1563364292 CA370030088	978	W>*		No	ClinGen Ensembl
rs1211594940 CA370030087	978	W>S		No	ClinGen TOPMed
rs1584999853 CA370030102	979	V>G		No	ClinGen Ensembl
TCGA novel	982	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	983	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA370030164 rs1331885639	985	E>D		No	ClinGen gnomAD
CA4571552 rs754677553	985	E>K		No	ClinGen ExAC gnomAD
CA370030212 rs1400453696	989	F>L		No	ClinGen gnomAD
rs926060195 CA169092185	991	V>L		No	ClinGen TOPMed
rs1299925778 CA370030244	992	W>*		No	ClinGen gnomAD
CA169092189 rs763144308	992	W>R		No	ClinGen Ensembl
CA4571554 rs747130370	994	M>I		No	ClinGen ExAC gnomAD
CA370030264 rs1338365570	994	M>V		No	ClinGen gnomAD
CA370030280 rs1345908929	995	V>A		No	ClinGen gnomAD
rs1276859749 CA370030285	996	A>T		No	ClinGen gnomAD
CA4571555 rs771291247	997	S>T		No	ClinGen ExAC gnomAD
rs776189342 CA370030336	1001	A>P		No	ClinGen ExAC
rs776189342 CA4571559 COSM1449282	1001	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA
rs373144126 CA4571560	1002	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA4571563 rs761317185	1008	I>T		No	ClinGen ExAC gnomAD
rs767218727 CA4571564	1010	M>V		No	ClinGen ExAC gnomAD
CA370030511 rs1358475729	1016	T>M		No	ClinGen gnomAD
rs764901886 CA169092648	1020	S>F		No	ClinGen Ensembl
rs1177021784 CA370030664	1024	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs971878627 CA169092653	1027	Q>R		No	ClinGen TOPMed gnomAD
rs1563365614 CA370030718 COSM217404	1029	G>S	liver [Cosmic]	No	ClinGen cosmic curated Ensembl
rs748585431 CA4571616	1031	G>A		No	ClinGen ExAC gnomAD
rs376108278 CA4571615	1031	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA gnomAD
CA169092672 rs752298456	1032	F>V		No	ClinGen Ensembl
CA370030761 rs1585001140	1033	H>P		No	ClinGen Ensembl
TCGA novel	1036	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772578149 CA4571617	1038	L>F		No	ClinGen ExAC gnomAD
TCGA novel	1038	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs149482871 CA370030829	1039	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs770458404 CA4571620	1042	M>V		No	ClinGen ExAC TOPMed gnomAD
CA370030869 rs1233241951	1043	G>S		No	ClinGen gnomAD
rs1390579375 CA370030898	1046	C>G		No	ClinGen TOPMed
CA169092702 rs974311436	1046	C>S		No	ClinGen Ensembl
TCGA novel	1047	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4571622 rs745528460	1047	A>T		No	ClinGen ExAC gnomAD
RCV000054697 CA216309 rs387907521	1047	A>V		No	ClinGen ClinVar Ensembl dbSNP
CA370030915 rs1214356461	1048	L>I		No	ClinGen gnomAD
rs1191872449 CA370030993	1055	A>T		No	ClinGen gnomAD
CA370031004 rs1585001222	1056	A>P		No	ClinGen Ensembl
TCGA novel	1056	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA370031014 rs1269694428	1057	A>S		No	ClinGen gnomAD
CA169092726 rs921481986	1058	T>A		No	ClinGen gnomAD
CA370031043 rs1367815308	1060	R>C		No	ClinGen TOPMed
CA4571625 rs573299923	1060	R>H		No	ClinGen 1000Genomes ExAC
CA4571626 rs539129644	1061	S>T		No	ClinGen 1000Genomes ExAC gnomAD
CA4571627 rs764184942	1062	V>I		No	ClinGen ExAC TOPMed gnomAD
CA370031066 rs1443087516	1063	T>P		No	ClinGen TOPMed
rs143100436 CA4571630	1065	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs754045514 CA4571631	1066	N>S		No	ClinGen ExAC TOPMed gnomAD
CA4571633 rs765300374	1067	A>E		No	ClinGen ExAC TOPMed gnomAD
CA4571632 rs755156900	1067	A>T		No	ClinGen ExAC TOPMed gnomAD
CA370031117 rs765300374	1067	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1563366031 CA370031140	1070	V>I		No	ClinGen Ensembl
rs544077677 CA4571635	1073	K>R		No	ClinGen 1000Genomes ExAC gnomAD
rs544077677 CA370031180	1073	K>T		No	ClinGen 1000Genomes ExAC gnomAD
CA370031242 rs747352307	1079	D>E		No	ClinGen ExAC gnomAD
rs141479576 CA4571638	1081	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs781439759 CA4571639	1084	Q>H		No	ClinGen ExAC gnomAD
CA4571640 rs777331623	1086	V>I		No	ClinGen ExAC gnomAD
rs1285851574 CA370031319	1087	K>R		No	ClinGen TOPMed
rs1239056908 CA370031326	1088	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1441901345 CA370031354	1090	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1175870529 CA370031355	1091	V>M		No	ClinGen gnomAD
COSM1087379 rs370805035 CA4571641	1092	T>M	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD
rs531107465 CA4571663	1102	L>F		No	ClinGen 1000Genomes ExAC gnomAD
CA370032118 rs1313129369	1103	S>P		No	ClinGen gnomAD
CA370032150 rs1212713488	1106	I>L		No	ClinGen gnomAD
rs771956638 CA169094732	1106	I>M		No	ClinGen ExAC TOPMed gnomAD
CA370032153 rs1482042736	1106	I>T		No	ClinGen gnomAD
CA169094739 rs773053086 CA4571665	1107	G>R		No	ClinGen ExAC TOPMed gnomAD
rs773053086 CA370032160	1107	G>W		No	ClinGen ExAC TOPMed gnomAD
CA4571670 rs538329663	1111	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA4571669 rs775639192	1111	R>W		No	ClinGen ExAC
rs146188375 CA169094763	1112	Q>*		No	ClinGen ESP ExAC gnomAD
rs146188375 CA4571671	1112	Q>K		No	ClinGen ESP ExAC gnomAD
CA4571673 rs762368582	1115	L>M		No	ClinGen ExAC TOPMed gnomAD
CA370032218 rs1374702799	1116	A>T		No	ClinGen gnomAD
CA370032223 rs1412731896	1116	A>V		No	ClinGen TOPMed
rs750770400 CA4571675	1117	V>L		No	ClinGen ExAC TOPMed gnomAD
rs750770400 CA4571676	1117	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1328243430 CA370032230	1118	L>I		No	ClinGen gnomAD
CA370032246 rs1377157963	1120	G>E		No	ClinGen gnomAD
rs387907526 RCV000054699 CA216313	1120	G>R		No	ClinGen ClinVar Ensembl dbSNP
CA370032276 rs1464677721	1125	M>V		No	ClinGen TOPMed gnomAD
CA4571679 rs754686126	1127	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1585001828 CA370032295	1128	T>P		No	ClinGen Ensembl
rs536921758 CA4571683	1132	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4571685 rs746987078	1133	I>M		No	ClinGen ExAC TOPMed gnomAD
rs17856814 CA169094813	1133	I>T		No	ClinGen Ensembl
CA370032345 rs1220335819	1135	F>L		No	ClinGen gnomAD
CA370032352 rs1285702529	1136	Y>C		No	ClinGen TOPMed
rs566860823 CA4571687	1137	E>D		No	ClinGen 1000Genomes ExAC gnomAD
CA169094814 rs373320216	1137	E>Q		No	ClinGen ESP
CA370032365 rs1478807581	1138	R>Q		No	ClinGen gnomAD
rs1563367045 CA370032362	1138	R>W		No	ClinGen Ensembl
CA4571688 rs139739553	1140	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA370032395 rs1160360334	1144	M>V		No	ClinGen gnomAD
rs1398985124 CA370032439	1150	P>S		No	ClinGen gnomAD
rs768049855 CA4571691	1151	D>E		No	ClinGen ExAC TOPMed gnomAD
rs750848785 CA4571692	1153	T>A		No	ClinGen ExAC gnomAD
CA4571693 rs761299326	1154	Y>C		No	ClinGen ExAC gnomAD
TCGA novel	1154	Y>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs192450553 CA4571695	1155	V>I		No	ClinGen 1000Genomes ExAC gnomAD
rs754669687 CA4571696	1156	K>R		No	ClinGen ExAC gnomAD
rs1417334329 CA370032502	1158	V>I		No	ClinGen gnomAD
CA4571722 rs751128320	1159	R>Q		No	ClinGen ExAC gnomAD
rs1182375968 CA370032509	1159	R>W		No	ClinGen TOPMed
rs1169925052 CA370032515	1160	T>N		No	ClinGen gnomAD
CA370032512 rs1585002695	1160	T>P		No	ClinGen Ensembl
TCGA novel	1161	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA169095030 rs1054992486	1162	R>C		No	ClinGen gnomAD
CA4571723 rs757183254	1162	R>H		No	ClinGen ExAC TOPMed gnomAD
CA4571724 rs781149475	1163	M>L		No	ClinGen ExAC TOPMed gnomAD
CA4571725 rs143095042	1163	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA4571726 rs755819209	1164	H>Y		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1165	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA169095053 rs547273199	1166	F>L		No	ClinGen 1000Genomes ExAC gnomAD
rs747121030 CA4571731	1169	L>V		No	ClinGen ExAC TOPMed gnomAD
CA169095073 rs768999274	1175	A>S		No	ClinGen TOPMed
CA370032602 rs768999274	1175	A>T		No	ClinGen TOPMed
rs1256884361 CA370032627	1179	A>T		No	ClinGen gnomAD
rs762498559 CA370032633	1180	V>F		No	ClinGen ExAC gnomAD
rs762498559 CA4571737	1180	V>I		No	ClinGen ExAC gnomAD
rs1263590035 CA370032662	1184	A>G		No	ClinGen gnomAD
RCV000054701 rs387907518 CA216317	1184	A>T		No	ClinGen ClinVar Ensembl dbSNP
rs569267979 CA4571738	1186	S>F		No	ClinGen 1000Genomes ExAC gnomAD
rs756811504 CA4571740	1194	I>T		No	ClinGen ExAC gnomAD
CA4571743 rs756085632	1198	P>L		No	ClinGen ExAC gnomAD
rs1282220203 CA370032758	1200	R>C		No	ClinGen TOPMed gnomAD
rs753728583 CA4571745	1200	R>H		No	ClinGen ExAC gnomAD
rs758513848 CA4571746	1201	M>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA370032762 rs1410494015	1201	M>V		No	ClinGen TOPMed
TCGA novel	1203	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
VAR_025171 rs34918764 CA4571747	1204	L>F		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs145738399 CA4571748	1204	L>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs771093000 CA4571749	1206	R>C		No	ClinGen ExAC TOPMed gnomAD
CA4571750 rs761050453	1206	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs761050453 CA370032794	1206	R>L		No	ClinGen ExAC TOPMed gnomAD
rs761050453 CA370032793	1206	R>P		No	ClinGen ExAC TOPMed gnomAD
rs966943143 CA169095116	1207	I>V		No	ClinGen Ensembl
rs1428154029 CA370032802	1208	F>V		No	ClinGen gnomAD
rs576745217 CA4571752	1210	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs375284531 CA370032822	1211	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs145331845 CA4571755	1211	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA4571754 rs145331845	1211	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA370032833 rs1454860217	1213	M>L		No	ClinGen gnomAD
rs1240061478 CA370032848	1214	K>T		No	ClinGen TOPMed
rs1286620275 CA370032856	1215	C>F		No	ClinGen TOPMed gnomAD
rs1286620275 CA370032854	1215	C>Y		No	ClinGen TOPMed gnomAD
CA4571790 rs530268440	1219	N>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs35551617 CA370032895	1219	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs780030402 CA4571791	1219	N>S		No	ClinGen ExAC gnomAD
CA370032896 rs1439812604	1220	E>K		No	ClinGen TOPMed gnomAD
rs1439812604 CA370032897	1220	E>Q		No	ClinGen TOPMed gnomAD
CA169095227 rs923399629	1221	A>G		No	ClinGen TOPMed
CA169095228 rs945363034	1222	E>Q		No	ClinGen TOPMed gnomAD
rs368947791 CA4571796	1223	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs368947791 CA4571795	1223	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs368947791 CA370032918	1223	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs202200955 CA4571794	1223	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4571800 rs776016471	1227	E>K		No	ClinGen ExAC TOPMed gnomAD
CA370032977 rs765331375	1228	R>L		No	ClinGen ExAC gnomAD
rs765331375 CA4571802	1228	R>Q		No	ClinGen ExAC gnomAD
rs759531882 CA4571801	1228	R>W		No	ClinGen ExAC TOPMed gnomAD
CA370033013 rs1585003716	1231	V>G		No	ClinGen Ensembl
rs1396859116 CA370033005	1231	V>M		No	ClinGen TOPMed
COSM1488372 CA370033032 rs1251204971	1233	E>K	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs552861749 CA4571806	1238	P>H		No	ClinGen 1000Genomes ExAC gnomAD
rs552861749 CA4571805	1238	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA4571804 rs200171126	1238	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD

No associated diseases with P04920

4 regional properties for P04920

Type	Name	Position	InterPro Accession
domain	Bicarbonate transporter-like, transmembrane domain	680 - 1168	IPR011531
domain	Band 3 cytoplasmic domain	352 - 619	IPR013769
conserved_site	Anion exchange, conserved site	682 - 693	IPR018241-1
conserved_site	Anion exchange, conserved site	829 - 843	IPR018241-2

Functions

		Description
EC Number
Subcellular Localization	[Isoform A]: Apical cell membrane ; Multi-pass membrane protein Basolateral cell membrane ; Multi-pass membrane protein ;
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

6 GO annotations of cellular component

Name	Definition
apical plasma membrane	The region of the plasma membrane located at the apical end of the cell.
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.
focal adhesion	A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ).
integral component of membrane	The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

4 GO annotations of molecular function

Name	Definition
anion transmembrane transporter activity	Enables the transfer of a negatively charged ion from one side of a membrane to the other.
enzyme binding	Binding to an enzyme, a protein with catalytic activity.
solute:inorganic anion antiporter activity	Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: inorganic anion(out) + solute(in) = inorganic anion (in) + solute(out).
transmembrane transporter activity	Enables the transfer of a substance, usually a specific substance or a group of related substances, from one side of a membrane to the other.

9 GO annotations of biological process

Name	Definition
amelogenesis	The process whose specific outcome is the formation of tooth enamel, occurring in two stages: secretory stage and maturation stage.
anion transport	The directed movement of anions, atoms or small molecules with a net negative charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
bicarbonate transport	The directed movement of bicarbonate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
digestive tract development	The process whose specific outcome is the progression of the digestive tract over time, from its formation to the mature structure. The digestive tract is the anatomical structure through which food passes and is processed.
ion homeostasis	Any process involved in the maintenance of an internal steady state of ions within an organism or cell.
positive regulation of enamel mineralization	Any process that activates or increases the frequency, rate or extent of enamel mineralization, the deposition of calcium salts in tooth enamel.
regulation of intracellular pH	Any process that modulates the internal pH of a cell, measured by the concentration of the hydrogen ion.
spermatogenesis	The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa.
transmembrane transport	The process in which a solute is transported across a lipid bilayer, from one side of a membrane to the other.

24 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9GL77	SLC4A4	Electrogenic sodium bicarbonate cotransporter 1	Bos taurus (Bovine)	PR
Q32LP4	SLC4A10	Sodium-driven chloride bicarbonate exchanger	Bos taurus (Bovine)	PR
Q8NBS3	SLC4A11	Solute carrier family 4 member 11	Homo sapiens (Human)	PR
Q9Y6R1	SLC4A4	Electrogenic sodium bicarbonate cotransporter 1	Homo sapiens (Human)	PR
Q9Y6M7	SLC4A7	Sodium bicarbonate cotransporter 3	Homo sapiens (Human)	PR
Q6U841	SLC4A10	Sodium-driven chloride bicarbonate exchanger	Homo sapiens (Human)	PR
Q2Y0W8	SLC4A8	Electroneutral sodium bicarbonate exchanger 1	Homo sapiens (Human)	PR
P02730	SLC4A1	Band 3 anion transport protein	Homo sapiens (Human)	PR
P04919	Slc4a1	Band 3 anion transport protein	Mus musculus (Mouse)	PR
Q8JZR6	Slc4a8	Electroneutral sodium bicarbonate exchanger 1	Mus musculus (Mouse)	PR
Q8BTY2	Slc4a7	Sodium bicarbonate cotransporter 3	Mus musculus (Mouse)	PR
A2AJN7	Slc4a11	Solute carrier family 4 member 11	Mus musculus (Mouse)	PR
Q5DTL9	Slc4a10	Sodium-driven chloride bicarbonate exchanger	Mus musculus (Mouse)	PR
P16283	Slc4a3	Anion exchange protein 3	Mus musculus (Mouse)	PR
O88343	Slc4a4	Electrogenic sodium bicarbonate cotransporter 1	Mus musculus (Mouse)	PR
P13808	Slc4a2	Anion exchange protein 2	Mus musculus (Mouse)	PR
Q4U116	SLC4A4	Electrogenic sodium bicarbonate cotransporter 1	Sus scrofa (Pig)	PR
Q9JI66	Slc4a4	Electrogenic sodium bicarbonate cotransporter 1	Rattus norvegicus (Rat)	PR
Q9R1N3	Slc4a7	Sodium bicarbonate cotransporter 3	Rattus norvegicus (Rat)	PR
Q80ZA5	Slc4a10	Sodium-driven chloride bicarbonate exchanger	Rattus norvegicus (Rat)	PR
Q3E954	BOR6	Probable boron transporter 6	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9M1P7	BOR2	Probable boron transporter 2	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9SUU1	BOR7	Probable boron transporter 7	Arabidopsis thaliana (Mouse-ear cress)	PR
Q8VYR7	BOR1	Boron transporter 1	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MSSAPRRPAK	GADSFCTPEP	ESLGPGTPGF	PEQEEDELHR	TLGVERFEEI	LQEAGSRGGE
70	80	90	100	110	120
EPGRSYGEED	FEYHRQSSHH	IHHPLSTHLP	PDARRRKTPQ	GPGRKPRRRP	GASPTGETPT
130	140	150	160	170	180
IEEGEEDEDE	ASEAEGARAL	TQPSPVSTPS	SVQFFLQEDD	SADRKAERTS	PSSPAPLPHQ
190	200	210	220	230	240
EATPRASKGA	QAGTQVEEAE	AEAVAVASGT	AGGDDGGASG	RPLPKAQPGH	RSYNLQERRR
250	260	270	280	290	300
IGSMTGAEQA	LLPRVPTDEI	EAQTLATADL	DLMKSHRFED	VPGVRRHLVR	KNAKGSTQSG
310	320	330	340	350	360
REGREPGPTP	RARPRAPHKP	HEVFVELNEL	LLDKNQEPQW	RETARWIKFE	EDVEEETERW
370	380	390	400	410	420
GKPHVASLSF	RSLLELRRTL	AHGAVLLDLD	QQTLPGVAHQ	VVEQMVISDQ	IKAEDRANVL
430	440	450	460	470	480
RALLLKHSHP	SDEKDFSFPR	NISAGSLGSL	LGHHHGQGAE	SDPHVTEPLM	GGVPETRLEV
490	500	510	520	530	540
ERERELPPPA	PPAGITRSKS	KHELKLLEKI	PENAEATVVL	VGCVEFLSRP	TMAFVRLREA
550	560	570	580	590	600
VELDAVLEVP	VPVRFLFLLL	GPSSANMDYH	EIGRSISTLM	SDKQFHEAAY	LADEREDLLT
610	620	630	640	650	660
AINAFLDCSV	VLPPSEVQGE	ELLRSVAHFQ	RQMLKKREEQ	GRLLPTGAGL	EPKSAQDKAL
670	680	690	700	710	720
LQMVEAAGAA	EDDPLRRTGR	PFGGLIRDVR	RRYPHYLSDF	RDALDPQCLA	AVIFIYFAAL
730	740	750	760	770	780
SPAITFGGLL	GEKTQDLIGV	SELIMSTALQ	GVVFCLLGAQ	PLLVIGFSGP	LLVFEEAFFS
790	800	810	820	830	840
FCSSNHLEYL	VGRVWIGFWL	VFLALLMVAL	EGSFLVRFVS	RFTQEIFAFL	ISLIFIYETF
850	860	870	880	890	900
YKLVKIFQEH	PLHGCSASNS	SEVDGGENMT	WAGARPTLGP	GNRSLAGQSG	QGKPRGQPNT
910	920	930	940	950	960
ALLSLVLMAG	TFFIAFFLRK	FKNSRFFPGR	IRRVIGDFGV	PIAILIMVLV	DYSIEDTYTQ
970	980	990	1000	1010	1020
KLSVPSGFSV	TAPEKRGWVI	NPLGEKSPFP	VWMMVASLLP	AILVFILIFM	ETQITTLIIS
1030	1040	1050	1060	1070	1080
KKERMLQKGS	GFHLDLLLIV	AMGGICALFG	LPWLAAATVR	SVTHANALTV	MSKAVAPGDK
1090	1100	1110	1120	1130	1140
PKIQEVKEQR	VTGLLVALLV	GLSIVIGDLL	RQIPLAVLFG	IFLYMGVTSL	NGIQFYERLH
1150	1160	1170	1180	1190	1200
LLLMPPKHHP	DVTYVKKVRT	LRMHLFTALQ	LLCLALLWAV	MSTAASLAFP	FILILTVPLR
1210	1220	1230	1240
MVVLTRIFTD	REMKCLDANE	AEPVFDEREG	VDEYNEMPMP	V