AiPD: Autoinhibited Protein Database

P08575

Gene name	PTPRC
Protein name	Receptor-type tyrosine-protein phosphatase C
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:5788
EC number	3.1.3.48: Phosphoric monoester hydrolases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1243-1304 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1243-1304 (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

6 structures for P08575

Entry ID	Method	Resolution	Chain	Position	Source
1YGR	X-ray	290 A	A/B	624-1233	PDB
1YGU	X-ray	290 A	A/B	624-1233	PDB
5FMV	X-ray	290 A	A/B	225-573	PDB
5FN6	X-ray	330 A	A	225-481	PDB
5FN7	X-ray	230 A	A/B	225-394	PDB
AF-P08575-F1	Predicted				AlphaFoldDB

1443 variants for P08575

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs759182888 RCV001975549	1	M>I	Immunodeficiency 104 [ClinVar]	Yes	ClinVar dbSNP
rs781080051 CA344098056 RCV001046302	18	D>N	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000818463 CA344096721 rs1571844516	40	M>I	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000801394 rs1159457079 CA344096733	42	S>I	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs149488488 RCV001340251 CA1314415	47	S>G	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs114764326 CA1314421 RCV000640075	52	T>A	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs774680729 RCV001348333 CA1314425	60	A>T	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001327345 rs776696394 CA1314428	66	E>K	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1364776797 RCV001319557	78	P>S	Immunodeficiency 104 [ClinVar]	Yes	ClinVar dbSNP
rs149798940 CA1314438 RCV000695229	87	P>L	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA36182640 rs988779141 RCV001041749	104	V>I	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs201751375 CA1314464 RCV000809902	113	A>S	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000796349 rs202180702 RCV002537023 RCV003224473 CA1314468	116	Q>P	Immunodeficiency 104 Immunodeficiency 105 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000640055 rs1553237882 CA344097219	118	P>T	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000555361 rs41269905 RCV000127661 CA292980	123	D>H	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA1314477 RCV000813866 rs753127621	126	T>I	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000802790 rs1571847562 CA344097308	132	A>G	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs200531350 RCV000818347 RCV002536902 RCV000788329 CA1314482	141	G>R	Immunodeficiency 104 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001225735 rs560558320 CA1314507	149	P>L	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001065960 rs1666509501	167	T>I	Immunodeficiency 104 [ClinVar]	Yes	ClinVar dbSNP
rs1666510866 RCV001316544	174	H>R	Immunodeficiency 104 [ClinVar]	Yes	ClinVar dbSNP
rs758362738 RCV001043851 CA1314521	175	H>Y	Variant assessed as Somatic; 0.0 impact. Immunodeficiency 104 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD
rs1558008164 CA344097611 RCV000689974	179	A>T	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA1314522 RCV001346216 rs527641821	182	A>E	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV002538021 rs561155698 CA36182882 RCV000799379	183	R>C	Variant assessed as Somatic; impact. Immunodeficiency 104 Inborn genetic diseases [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar NCI-TCGA TOPMed dbSNP
rs138554556 RCV001205204 CA1314523	183	R>H	Variant assessed as Somatic; 0.0 impact. Immunodeficiency 104 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA1314524 RCV001089279 RCV000610984 RCV000757705 rs201715157	189	I>N	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA1314529 RCV001613351 rs4915154 RCV000544148 VAR_036860 RCV001805170	193	T>A	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001575804 rs148561683 CA1314554 RCV000640068	216	T>P	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs199882367 RCV001233679 CA1314593	223	P>T	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs535416574 RCV000699733 RCV003133552 CA1314607 RCV002534377	234	N>D	Immunodeficiency 104 Immunodeficiency 105 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000800241 rs1571855329 CA344033038	238	D>H	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs780129489 CA344033313 RCV000640065 CA1314614	256	E>D	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ExAC gnomAD ClinVar dbSNP
CA1314616 rs142941257 RCV000768296 RCV000441811	261	G>V	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1653004183 RCV001297015	274	T>I	Immunodeficiency 104 [ClinVar]	Yes	ClinVar dbSNP
RCV000814706 CA344033723 rs1189209220	279	A>T	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000687956 rs1240486262 CA344033784	283	I>V	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
CA1314623 RCV002561760 rs199673441 RCV001211597	286	N>D	Immunodeficiency 104 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs2230606 RCV000127662 VAR_051763 RCV000556114 CA292982	296	I>L	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000640058 rs1553239425 CA344034421	307	Q>R	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1279900525 CA344034447 RCV001057450	309	H>R	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000806683 CA1314656 rs368910528	322	C>S	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC dbSNP gnomAD
rs41314039 RCV000640052 RCV002481643 RCV001811003 CA1314657	328	I>V	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs2274367 RCV000640064 CA1314658	329	E>K	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA1314660 rs148025707 RCV000688357	332	T>I	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA344034804 rs1558012466 RCV000691500	335	T>A	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs79141749 CA1314697 RCV002480285 RCV000559618 RCV000440086	351	N>S	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1558013560 CA344034958 RCV000703414	354	I>M	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001335069 CA35889902 rs917430300	362	E>K	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
VAR_021205	364	E>del	IMD105; associated with lack of surface expression [UniProt]	Yes	UniProt
RCV001225528 CA1314709 rs776036789	381	A>T	Variant assessed as Somatic; 0.0 impact. Immunodeficiency 104 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs1653389355 RCV001210850	394	E>G	Immunodeficiency 104 [ClinVar]	Yes	ClinVar dbSNP
RCV000819642 CA35891305 rs775095087	397	I>F	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
VAR_051764 RCV000535842 RCV000437442 CA1314742 rs6696162	423	T>I	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000547900 CA1314771 RCV001775862 rs140403368	433	D>N	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs375608198 RCV000705389 CA344037251	441	L>M	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000695312 RCV002532292 rs1297093496 CA344037431	453	T>S	Immunodeficiency 104 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000804558 CA35893063 rs899389630	464	I>T	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs61749266 RCV000697731 RCV002533498 CA1314786	481	K>E	Immunodeficiency 104 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA344038706 rs1432775291 RCV000528586	486	S>G	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA1314808 RCV000795558 rs200407298	486	S>R	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001035755 rs1653684365	488	V>F	Immunodeficiency 104 [ClinVar]	Yes	ClinVar dbSNP
RCV000640056 CA35893520 CA344038753 rs910573647	491	M>L	Immunodeficiency 104 [ClinVar]	Yes	ClinGen TOPMed gnomAD ClinVar dbSNP
CA1314812 RCV001221554 rs545961977	493	V>I	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA1314814 rs555467190 RCV001225871	498	D>E	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001057409 CA344038915 rs1193789799	503	V>I	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001226161 rs746951007 CA1314821	511	R>C	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000701442 CA344039166 rs1203819767	519	H>R	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs116464756 RCV000757704 CA1314828 RCV000640083 RCV003224346	523	E>V	Immunodeficiency 104 Immunodeficiency 105 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1380213873 RCV001215243 CA344039289	526	N>T	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
CA1314830 RCV000804482 rs757782403	531	N>H	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA344039382 RCV001302992 rs1333928530	533	S>L	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs144856406 RCV001315517 CA1314836	538	D>N	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV002260603 rs398122383 CA144640	542	K>*	Immunodeficiency 105 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
VAR_087537	542	K>del	IMD105 [UniProt]	Yes	UniProt
RCV001055504 rs1653699172	543	D>V	Immunodeficiency 104 [ClinVar]	Yes	ClinVar dbSNP
rs145467564 RCV000800993 CA1314842	548	T>A	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1653701472 RCV001208299	552	F>V	Immunodeficiency 104 [ClinVar]	Yes	ClinVar dbSNP
CA1314862 RCV000803601 rs760244730	560	D>N	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs141099643 RCV001318530 CA1314869	569	H>Y	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs12136658 RCV001698969 VAR_051765 RCV000536624 CA292986 RCV000127664	570	H>Q	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs376098272 RCV000811420 CA1314883	574	Y>C	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001222543 rs1654236550	576	S>F	Immunodeficiency 104 [ClinVar]	Yes	ClinVar dbSNP
RCV001316958 RCV002543710 CA1314895 rs150416673	596	V>F	Immunodeficiency 104 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001213352 rs370560920 CA1314897	602	Y>C	Variant assessed as Somatic; 0.0 impact. Immunodeficiency 104 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ESP ExAC NCI-TCGA dbSNP gnomAD
CA344042201 RCV001308890 rs1417282394	612	L>V	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs772094735 RCV001319921	622	D>E	Immunodeficiency 104 [ClinVar]	Yes	ClinVar dbSNP
rs762123424 CA1314934 RCV000807029	622	D>G	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1654392123 RCV001343271	629	N>K	Immunodeficiency 104 [ClinVar]	Yes	ClinVar dbSNP
rs1486244862 RCV001231457 CA344043891	631	E>K	Variant assessed as Somatic; impact. Immunodeficiency 104 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar NCI-TCGA dbSNP gnomAD
rs868698846 RCV001066511 CA344044602	655	A>P	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000815066 rs1571878480 CA344045209	669	I>M	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000796373 CA1314972 rs777914316	678	Q>H	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA344045515 RCV000698812 rs1553243145	682	R>C	Variant assessed as Somatic; impact. Immunodeficiency 104 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar Ensembl NCI-TCGA dbSNP
RCV000640059 rs1553243145 CA344045513	682	R>G	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001055693 rs781335157 CA344045828	693	R>H	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1654442187 RCV001231289	703	A>S	Immunodeficiency 104 [ClinVar]	Yes	ClinVar dbSNP
RCV001342085 CA1315000 rs760430276	708	I>V	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA344047653 rs1189671328 RCV001305470	730	D>Y	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000804078 RCV002537170 CA1315042 rs139089055	736	F>L	Immunodeficiency 104 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA344048545 rs1571880832 RCV000787279	765	Y>*	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA344048622 rs1558030527 RCV000698806	769	M>V	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000816929 rs752691679 CA1315077	770	E>G	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000806660 rs1571880881 CA344048712	773	T>S	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000698219 RCV000757706 rs200672643 CA1315080	774	R>W	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000820287 rs1571880941	788	R>missing	Immunodeficiency 104 [ClinVar]	Yes	ClinVar dbSNP
RCV001351610 rs1654577048	793	I>T	Immunodeficiency 104 [ClinVar]	Yes	ClinVar dbSNP
CA1315095 rs185420520 RCV000541951	799	I>F	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs148122103 RCV002553840 CA1315125 RCV001058175 CA1315126	823	G>R	Immunodeficiency 104 Inborn genetic diseases [ClinVar]	Yes	ClinGen ESP ExAC TOPMed gnomAD ClinVar dbSNP
CA1315129 RCV001027843 RCV000521714 RCV003224307 rs146402228	830	L>F	Immunodeficiency 104 Immunodeficiency 105 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1558034292 RCV000695822 CA344050439	832	L>P	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs200065664 CA35908663 RCV001304651	835	R>S	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001242199 rs774612719 CA1315133	840	A>V	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000554554 CA1315138 rs765136427 RCV002530058	848	P>L	Immunodeficiency 104 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs752510149 RCV001307340 CA1315139	849	I>V	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV002534341 RCV000697329 rs770932386 CA1315191 CA344051156	869	M>I	Immunodeficiency 104 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA1315192 rs775435143 RCV001049992	875	A>V	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1654939426 RCV001226406	878	K>E	Immunodeficiency 104 [ClinVar]	Yes	ClinVar dbSNP
RCV001217190 rs1654939978	881	V>I	Immunodeficiency 104 [ClinVar]	Yes	ClinVar dbSNP
CA1315236 rs376357337 RCV000640051	927	P>A	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA344051686 CA1315242 rs149625776 RCV000640063	931	N>K	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA1315243 rs577595945 RCV001301860	941	P>L	Variant assessed as Somatic; 0.0 impact. Immunodeficiency 104 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV000699112 rs1481095196 CA344051875	945	E>G	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV001240961 CA344051894 rs1269014792 RCV002568538	946	A>G	Immunodeficiency 104 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
CA1315279 rs766748068 RCV001335070	962	I>T	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs755878222 RCV001306283	969	K>R	Immunodeficiency 104 [ClinVar]	Yes	ClinVar dbSNP
rs779246448 RCV001236197	980	Y>*	Immunodeficiency 104 [ClinVar]	Yes	ClinVar dbSNP
rs145944629 CA1315305 RCV000640062 RCV002533246	1000	D>N	Immunodeficiency 104 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1655286650 RCV001210144	1020	A>E	Immunodeficiency 104 [ClinVar]	Yes	ClinVar dbSNP
CA1315311 rs779502543 RCV001035256	1023	I>V	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001302109 rs1655333053	1041	E>G	Immunodeficiency 104 [ClinVar]	Yes	ClinVar dbSNP
rs535347024 RCV001337279 CA1315359	1044	G>S	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
rs1571894648 RCV000812478 CA344054139	1060	M>T	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1655337581 RCV001050699	1063	E>D	Immunodeficiency 104 [ClinVar]	Yes	ClinVar dbSNP
rs1558039602 RCV001217989	1064	L>M	Immunodeficiency 104 [ClinVar]	Yes	ClinVar dbSNP
RCV001352627 rs1655338254	1066	H>R	Immunodeficiency 104 [ClinVar]	Yes	ClinVar dbSNP
RCV001038134 rs1655418449	1077	G>E	Immunodeficiency 104 [ClinVar]	Yes	ClinVar dbSNP
RCV001061117 rs984089455 CA35916861	1093	T>I	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs760921606 CA1315402 RCV001037330	1102	R>C	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001035287 rs765815787 CA1315437	1128	E>G	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001036391 rs765840478 CA1315438	1130	L>F	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001227584 rs1655438382	1134	P>A	Immunodeficiency 104 [ClinVar]	Yes	ClinVar dbSNP
RCV000689391 CA1315439 RCV002547140 rs369268728	1135	K>T	Immunodeficiency 104 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA35917232 RCV001346633 rs937199866	1139	S>P	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV000801591 rs778966323 CA1315444	1142	Q>P	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs758217317 CA344054796 RCV000802468	1143	V>A	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs139041596 RCV001352549 CA1315448	1144	V>I	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001320048 rs959940059	1159	H>D	Immunodeficiency 104 [ClinVar]	Yes	ClinVar dbSNP
rs772354314 CA1315480 RCV001348690	1173	S>A	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1294347017 RCV002546826 CA344055304 RCV001337783	1180	C>Y	Immunodeficiency 104 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV003224185 rs114970039 RCV000696429 RCV002485087 RCV000171165 CA235772	1182	L>S	Immunodeficiency 104 Immunodeficiency 105 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs762923302 RCV001048871 CA1315484	1184	N>T	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs751348881 RCV001307152	1187	E>K	Immunodeficiency 104 [ClinVar]	Yes	ClinVar dbSNP
RCV001038376 rs113148246 RCV002252298 CA1315492	1193	E>A	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs779568827 RCV000797833 CA1315494	1203	A>S	Variant assessed as Somatic; 0.0 impact. Immunodeficiency 104 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD
rs766000320 RCV001307922	1221	L>I	Immunodeficiency 104 [ClinVar]	Yes	ClinVar dbSNP
CA1315534 rs150672767 RCV000755379 RCV001083271 RCV002282189	1224	V>I	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA1315538 rs747330174 RCV001298077	1229	Y>C	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001053903 CA1315547 rs773038500	1241	H>Y	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1655632255 RCV001337585	1246	I>L	Immunodeficiency 104 [ClinVar]	Yes	ClinVar dbSNP
CA1315557 RCV001053391 rs757598062	1258	D>N	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001210854 rs1655635880	1262	V>L	Immunodeficiency 104 [ClinVar]	Yes	ClinVar dbSNP
RCV001231779 rs1655636285	1264	P>L	Immunodeficiency 104 [ClinVar]	Yes	ClinVar dbSNP
CA344056267 RCV001330781 rs201641820	1278	A>P	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000696847 CA1315569 rs200950466 RCV002533466	1282	E>Q	Immunodeficiency 104 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs775293081 CA1315570 RCV001307758	1283	P>R	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs762501047 RCV001211122 RCV001265856 CA1315571	1284	T>M	Immunodeficiency 104 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001061477 rs2298872 VAR_020303 CA1315572	1285	S>R	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
CA1315581 RCV001493428 rs148331492	1305	G>A	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001232324 CA1315582 rs148331492	1305	G>D	Immunodeficiency 104 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	1	M>?	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773900940	2	T>C		No	ExAC gnomAD
CA1314358 rs768227005	2	T>N		No	ClinGen ExAC gnomAD
rs772724488 CA1314361	3	M>T		No	ClinGen ExAC TOPMed gnomAD
CA1314360 rs368929179	3	M>V		No	ClinGen ESP ExAC gnomAD
rs773900940 CA1314362	4	Y>C		No	ClinGen ExAC gnomAD
rs761069010	4	Y>R		No	ExAC gnomAD
TCGA novel rs761069010 CA1314363	6	W>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC gnomAD NCI-TCGA
rs1571765578	6	W>T		No	Ensembl
rs1186725402	8	K>F		No	gnomAD
CA344097994 rs1571765578	8	K>T		No	ClinGen Ensembl
rs61757803	8	K>V		No	ExAC TOPMed gnomAD
rs759684142	9	L>S		No	ExAC gnomAD
rs759684142	9	L>T		No	ExAC gnomAD
rs1186725402 CA344098009	10	L>F		No	ClinGen gnomAD
CA1314365 rs61757803	10	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1426202766	11	A>D		No	gnomAD
CA344098011 rs759684142	11	A>S		No	ClinGen ExAC gnomAD
rs759684142 CA1314366	11	A>T		No	ClinGen ExAC gnomAD
rs1426202766 CA344098028	13	G>D		No	ClinGen gnomAD
rs752797028	13	G>V		No	ExAC gnomAD
CA1314368 rs752797028	15	A>V		No	ClinGen ExAC gnomAD
rs781080051	16	F>H		No	ExAC TOPMed gnomAD
rs781080051	16	F>N		No	ExAC TOPMed gnomAD
rs781080051 CA1314370	18	D>H		No	ClinGen ExAC TOPMed gnomAD
rs1288480100	19	T>L		No	gnomAD
CA344098079 rs1288480100	21	V>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1174394984	23	V>E		No	gnomAD
rs752958303	24	T>K		No	ExAC gnomAD
rs1174394984 CA344096198	25	G>E		No	ClinGen gnomAD
rs763020424	25	G>I		No	ExAC gnomAD
rs763020424	25	G>N		No	ExAC gnomAD
CA1314386 rs752958303	26	Q>K		No	ClinGen ExAC gnomAD
rs750318458	26	Q>L		No	ExAC TOPMed gnomAD
CA1314388 rs763020424	27	S>I		No	ClinGen ExAC gnomAD
rs763020424 CA1314387	27	S>N		No	ClinGen ExAC gnomAD
rs750318458 CA1314389	28	P>L		No	ClinGen ExAC TOPMed gnomAD
rs753850217	32	P>E		No	ExAC TOPMed gnomAD
rs369827350	33	T>S		No	ESP ExAC TOPMed gnomAD
rs753850217 CA1314411	34	G>E		No	ClinGen ExAC TOPMed gnomAD
rs376744253	35	L>R		No	Ensembl
CA1314412 rs369827350	35	L>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1571851078	37	T>T		No	Ensembl
rs148271722	38	A>A		No	ESP
rs1571844516	38	A>I		No	Ensembl
rs1471347474	39	K>L		No	gnomAD
rs1159457079	40	M>I		No	gnomAD
rs74536455	40	M>P		No	gnomAD
rs1159457079	40	M>T		No	gnomAD
rs765181971	41	P>A		No	ExAC gnomAD
CA344096726 rs1471347474	41	P>L		No	ClinGen gnomAD
rs1159457079 CA344096732	42	S>T		No	ClinGen gnomAD
CA1314413 rs765181971	43	V>A		No	ClinGen ExAC gnomAD
rs149488488	45	L>G		No	ESP ExAC TOPMed gnomAD
rs1271131973	46	S>E		No	TOPMed
rs746480752	47	S>S		No	ExAC TOPMed gnomAD
rs746480752	47	S>T		No	ExAC TOPMed gnomAD
CA344096772 rs1271131973	48	D>E		No	ClinGen TOPMed
rs1476873676	48	D>I		No	gnomAD
rs1279852502	49	P>L		No	gnomAD
rs200613730	49	P>S		No	1000Genomes ExAC TOPMed gnomAD
rs746435286	49	P>S		No	ExAC gnomAD
CA1314418 rs746480752	49	P>S		No	ClinGen ExAC TOPMed gnomAD
rs746480752 CA1314417	49	P>T		No	ClinGen ExAC TOPMed gnomAD
rs114764326	50	L>A		No	1000Genomes ESP ExAC TOPMed gnomAD
rs951948469	51	P>D		No	TOPMed
CA344096789 rs1279852502	51	P>L		No	ClinGen gnomAD
rs746435286 CA1314420	51	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs139323040	51	P>V		No	ESP ExAC TOPMed gnomAD
rs775839710	52	T>A		No	ExAC gnomAD
rs1203601910	52	T>N		No	gnomAD
rs1203601910	52	T>S		No	gnomAD
rs148561683	53	H>A		No	1000Genomes ESP ExAC TOPMed gnomAD
rs951948469 CA36182371	53	H>D		No	ClinGen TOPMed
rs148561683	53	H>P		No	1000Genomes ESP ExAC TOPMed gnomAD
CA1314422 rs775839710	54	T>A		No	ClinGen ExAC gnomAD
rs146065363	54	T>A		No	ESP ExAC TOPMed gnomAD
CA344096804 rs1203601910	54	T>N		No	ClinGen gnomAD
CA344096805 rs1203601910	54	T>S		No	ClinGen gnomAD
rs1490524921	54	T>S		No	gnomAD
rs1490524921 CA344096815	56	A>S		No	ClinGen gnomAD
rs1329107092	56	A>T		No	gnomAD
rs1403116788	57	F>G		No	gnomAD
rs1558004428	58	S>G		No	Ensembl
rs774680729	58	S>T		No	ExAC TOPMed gnomAD
CA344096842 rs1558004428	60	A>G		No	ClinGen Ensembl
rs767699746	60	A>I		No	ExAC gnomAD
rs199882367	60	A>T		No	1000Genomes ExAC TOPMed gnomAD
rs767699746 CA1314427	62	T>I		No	ClinGen ExAC gnomAD
rs1571844679	62	T>K		No	Ensembl
rs746042319	63	F>A		No	ExAC gnomAD
rs746042319	63	F>S		No	ExAC gnomAD
rs776696394	64	E>K		No	ExAC TOPMed gnomAD
rs1571844679 RCV000788152 CA344096865	64	E>K		No	ClinGen ClinVar Ensembl dbSNP
rs899966685	66	E>G		No	Ensembl
rs1461308177	66	E>H		No	TOPMed
rs1282201819	67	N>K		No	TOPMed
rs899966685 CA36182374	68	D>G		No	ClinGen Ensembl
rs1461308177 CA344096896	68	D>H		No	ClinGen TOPMed
rs1571855276	68	D>N		No	Ensembl
rs1553239146	68	D>R		No	Ensembl
rs1571855288	70	S>G		No	Ensembl
rs765055683	72	T>A		No	ExAC gnomAD
rs758264225	73	T>F		No	ExAC gnomAD
rs765055683 CA1314430	74	T>A		No	ClinGen ExAC gnomAD
rs975885112	74	T>V		No	TOPMed
rs1571844719	75	S>C		No	Ensembl
rs758264225 CA1314432	75	S>F		No	ClinGen ExAC gnomAD
rs751293994	75	S>R		No	ExAC gnomAD
rs751970504	76	L>F		No	ExAC gnomAD
rs866558681	76	L>L		No	Ensembl
rs1364776797	76	L>T		No	gnomAD
rs975885112 CA36182375	76	L>V		No	ClinGen TOPMed
rs1571844719 CA344096952	77	S>C		No	ClinGen Ensembl
rs751293994 CA1314434	77	S>R		No	ClinGen ExAC gnomAD
rs866558681 CA36182376	78	P>L		No	ClinGen Ensembl
rs1364776797 CA344096958	78	P>T		No	ClinGen gnomAD
rs1329360713	79	D>I		No	gnomAD
rs1267788074	79	D>S		No	gnomAD
rs868710420	80	N>F		No	gnomAD
rs375051221	81	T>I		No	1000Genomes ExAC TOPMed gnomAD
CA344096984 COSM1470141 rs1329360713	81	T>I	prostate [Cosmic]	No	ClinGen cosmic curated gnomAD
rs868710420 CA36182377	82	S>F		No	ClinGen gnomAD
rs375051221 CA1314436	83	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs149798940	85	V>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs757784543	85	V>S		No	ExAC
rs536748539	86	S>G		No	1000Genomes ExAC gnomAD
rs748460083	87	P>F		No	ExAC gnomAD
rs781701825	87	P>G		No	ExAC gnomAD
rs771987218	88	D>F		No	ExAC gnomAD
rs536748539 CA1314441	88	D>G		No	ClinGen 1000Genomes ExAC gnomAD
rs1250308154	88	D>W		No	gnomAD
rs1212958184	89	S>E		No	TOPMed
rs748460083 CA1314443	89	S>F		No	ClinGen ExAC gnomAD
rs1251140498	89	S>N		No	TOPMed
TCGA novel	89	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs61757804	90	L>D		No	ExAC TOPMed gnomAD
rs771987218 CA1314444	90	L>F		No	ClinGen ExAC gnomAD
CA344097036 rs1250308154	90	L>W		No	ClinGen gnomAD
CA344097044 rs1212958184	91	D>E		No	ClinGen TOPMed
rs1251140498 CA344097038	91	D>N		No	ClinGen TOPMed
rs1244631323	91	D>T		No	gnomAD
rs61757804 CA1314445	92	N>D		No	ClinGen ExAC TOPMed gnomAD
rs770214288	92	N>H		No	ExAC
rs759505457	92	N>N		No	ExAC TOPMed gnomAD
rs1158057562	92	N>S		No	gnomAD
rs759505457	92	N>T		No	ExAC TOPMed gnomAD
rs780129489	93	A>D		No	ExAC gnomAD
TCGA novel	93	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1003948419	93	A>P		No	Ensembl
CA344097054 rs1244631323	93	A>T		No	ClinGen gnomAD
rs759505457 CA1314446	94	S>N		No	ClinGen ExAC TOPMed gnomAD
rs759505457 CA344097062	94	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1003948419 CA36182378	95	A>P		No	ClinGen Ensembl
rs1323165536	96	F>A		No	gnomAD
rs762651341	97	N>A		No	ExAC gnomAD
CA344097088 rs1323165536	98	T>A		No	ClinGen gnomAD
rs1367301156	98	T>R		No	gnomAD
rs762651341 CA1314449	99	T>A		No	ClinGen ExAC gnomAD
rs1298769494	101	V>I		No	gnomAD
rs1178335552	101	V>T		No	gnomAD
rs988779141	102	S>I		No	TOPMed gnomAD
rs1394814934	103	S>E		No	TOPMed
rs772369890	103	S>L		No	ExAC TOPMed gnomAD
rs772369890	103	S>R		No	ExAC TOPMed gnomAD
rs1178335552 CA344097129	103	S>T		No	ClinGen gnomAD
rs1553239175	105	Q>D		No	Ensembl
rs1394814934 CA344097139	105	Q>E		No	ClinGen TOPMed
rs772369890 CA344097142	105	Q>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	105	Q>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772369890 CA1314461	105	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs777950017	106	T>P		No	ExAC TOPMed gnomAD
rs777950017 CA1314462	108	H>P		No	ClinGen ExAC TOPMed gnomAD
rs747055380	109	L>K		No	ExAC gnomAD
rs747055380	109	L>R		No	ExAC gnomAD
rs1474445832	110	P>I		No	TOPMed
rs747055380 CA1314463	111	T>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA344097179 rs747055380	111	T>R		No	ClinGen ExAC gnomAD
rs201751375	111	T>S		No	ESP ExAC TOPMed gnomAD
rs1339113484	111	T>V		No	gnomAD
rs1384831062	113	A>T		No	gnomAD
rs1339113484 CA344097192	113	A>V		No	ClinGen gnomAD
rs768271323	114	D>E		No	ExAC gnomAD
rs202180702	114	D>P		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1253903025	115	S>M		No	TOPMed gnomAD
rs1571847453	115	S>S		No	Ensembl
CA344097201 rs1384831062	115	S>T		No	ClinGen gnomAD
rs768271323 CA1314467	116	Q>E		No	ClinGen ExAC gnomAD
rs1553237882	116	Q>T		No	Ensembl
CA344097216 rs1253903025	117	T>M		No	ClinGen TOPMed gnomAD
rs1571847453 CA344097215	117	T>S		No	ClinGen Ensembl
rs1558011361	118	P>L		No	Ensembl
rs767130769	118	P>V		No	ExAC gnomAD
rs767130769 CA1314470	120	A>V		No	ClinGen ExAC gnomAD
rs1266308410	121	G>G		No	TOPMed
rs41269905	121	G>H		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1178168643	122	T>Q		No	gnomAD
rs765927930	122	T>R		No	ExAC gnomAD
CA344097251 rs1266308410	123	D>G		No	ClinGen TOPMed
rs370907315	123	D>R		No	ESP ExAC TOPMed gnomAD
rs753127621	124	T>I		No	ExAC TOPMed gnomAD
rs779106980	124	T>P		No	ExAC TOPMed gnomAD
rs765927930 CA1314473	124	T>R		No	ClinGen ExAC gnomAD
rs779106980	124	T>S		No	ExAC TOPMed gnomAD
CA1314475 rs370907315	125	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs778137179	125	Q>S		No	ExAC TOPMed gnomAD
rs779106980 CA344097267	126	T>P		No	ClinGen ExAC TOPMed gnomAD
CA1314476 rs779106980	126	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1367339525	127	F>D		No	TOPMed
TCGA novel	127	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1314479 rs778137179	127	F>S		No	ClinGen ExAC TOPMed gnomAD
rs1295272657	128	S>F		No	TOPMed
rs1284459301	128	S>P		No	gnomAD
rs1367339525 CA344097289	129	G>D		No	ClinGen TOPMed
rs1345381608	129	G>P		No	gnomAD
CA344097297 rs1295272657	130	S>F		No	ClinGen TOPMed
rs1571847562	130	S>G		No	Ensembl
rs1284459301 CA344097293	130	S>P		No	ClinGen gnomAD
rs1217861244	130	S>S		No	gnomAD
rs374439003	130	S>T		No	Ensembl
rs747294735	131	A>H		No	ExAC gnomAD
rs1345381608 CA344097299	131	A>P		No	ClinGen gnomAD
rs1318366185	131	A>S		No	TOPMed gnomAD
rs1217861244 CA344097305	132	A>S		No	ClinGen gnomAD
CA1314480 rs747294735	133	N>H		No	ClinGen ExAC gnomAD
rs2230606	133	N>L		No	1000Genomes ESP ExAC TOPMed gnomAD
CA344097313 rs1318366185	133	N>S		No	ClinGen TOPMed gnomAD
rs201362674	134	A>R		No	1000Genomes
rs756803136	135	K>H		No	ExAC TOPMed gnomAD
rs756803136	135	K>N		No	ExAC TOPMed gnomAD
rs941109919	135	K>S		No	TOPMed gnomAD
rs1224015214	136	L>A		No	gnomAD
rs752408704	136	L>L		No	TOPMed gnomAD
rs1383621839	136	L>M		No	TOPMed
CA36182643 rs201362674	136	L>R		No	ClinGen 1000Genomes
rs941109919 CA36182644	137	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA344097344 rs1224015214	138	P>A		No	ClinGen gnomAD
rs1291923222	138	P>A		No	Ensembl
rs752408704 CA36182645	138	P>L		No	ClinGen TOPMed gnomAD
rs1170608605	139	T>D		No	TOPMed
rs200531350	139	T>R		No	1000Genomes ExAC TOPMed gnomAD
rs1291923222 CA344097355	140	P>A		No	ClinGen Ensembl
rs1189264575	140	P>G		No	gnomAD
CA344097362 rs1170608605	141	G>D		No	ClinGen TOPMed
TCGA novel	141	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1571847636	142	S>D		No	Ensembl
CA344097366 rs1189264575	142	S>G		No	ClinGen gnomAD
rs768665134	143	N>N		No	ExAC gnomAD
rs1158616706	143	N>V		No	gnomAD
rs1571847636 CA344097384	144	A>D		No	ClinGen Ensembl
rs1392608565	145	I>H		No	TOPMed
CA1314484 rs768665134	145	I>N		No	ClinGen ExAC gnomAD
rs1158616706 CA344097388	145	I>V		No	ClinGen gnomAD
TCGA novel	146	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1392608565 CA344097400	147	D>H		No	ClinGen TOPMed
rs560558320	147	D>L		No	1000Genomes ExAC TOPMed gnomAD
rs750858062 TCGA novel	147	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ExAC gnomAD NCI-TCGA
rs776194748	148	V>E		No	ExAC gnomAD
rs764712415	149	P>D		No	ExAC gnomAD
rs759082475	149	P>K		No	ExAC gnomAD
CA1314508 rs776194748	150	G>E		No	ClinGen ExAC gnomAD
rs1226583954	150	G>S		No	gnomAD
CA1314510 rs764712415	151	E>D		No	ClinGen ExAC gnomAD
rs1408499004	151	E>I		No	Ensembl
rs759082475 CA1314509	151	E>K		No	ClinGen ExAC gnomAD
rs776009650	151	E>N		No	ExAC TOPMed gnomAD
rs776009650	151	E>T		No	ExAC TOPMed gnomAD
rs763559463	152	R>I		No	ExAC gnomAD
CA344097447 rs1226583954	152	R>S		No	ClinGen gnomAD
CA1314511 rs776009650	153	S>N		No	ClinGen ExAC TOPMed gnomAD
CA36182878 rs776009650	153	S>T		No	ClinGen ExAC TOPMed gnomAD
CA1314512 rs763559463	154	T>I		No	ClinGen ExAC gnomAD
rs764517655	154	T>N		No	ExAC
rs140527232	155	A>I		No	ESP ExAC TOPMed gnomAD
CA1314513 rs764517655	156	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
CA1314514 rs140527232	157	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs368910528	159	P>S		No	ESP ExAC gnomAD
rs1462866392	159	P>V		No	gnomAD
rs767752802	161	D>I		No	ExAC gnomAD
rs1462866392 CA344097502	161	D>V		No	ClinGen gnomAD
rs1237015738	162	P>F		No	gnomAD
CA1314516 rs767752802	163	V>I		No	ClinGen ExAC gnomAD
rs750674861	164	S>F		No	ExAC gnomAD
rs1237015738 CA344097521	164	S>F		No	ClinGen gnomAD
rs1210926803	164	S>T		No	gnomAD
rs756201842	165	P>A		No	ExAC gnomAD
rs41314039	165	P>F		No	1000Genomes ESP ExAC TOPMed gnomAD
rs41314039	165	P>V		No	1000Genomes ESP ExAC TOPMed gnomAD
rs2274367	166	L>*		No	1000Genomes ExAC TOPMed gnomAD
rs914949393	166	L>A		No	TOPMed
rs750674861 CA1314517	166	L>F		No	ClinGen ExAC gnomAD
rs2274367	166	L>K		No	1000Genomes ExAC TOPMed gnomAD
rs780009687	166	L>N		No	ExAC gnomAD
rs756201842 CA1314518	167	T>A		No	ClinGen ExAC gnomAD
rs1289559543	167	T>I		No	TOPMed
CA36182880 rs914949393	168	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA1314519 rs780009687	168	T>N		No	ClinGen ExAC gnomAD
rs945167747	169	T>G		No	TOPMed gnomAD
CA344097548 rs1289559543	169	T>I		No	ClinGen TOPMed
CA36182881 rs945167747	171	S>G		No	ClinGen TOPMed gnomAD
TCGA novel	171	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1558008145	171	S>V		No	Ensembl
rs1558012466	172	L>A		No	Ensembl
rs1367893170	173	A>K		No	gnomAD
CA344097573 rs1558008145	173	A>V		No	ClinGen Ensembl
rs758362738	173	A>Y		No	ExAC gnomAD
rs778005183	174	H>K		No	ExAC gnomAD
TCGA novel	174	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1466660990	175	H>V		No	TOPMed
rs1558008164	177	S>T		No	Ensembl
rs1470776251	179	A>L		No	TOPMed gnomAD
rs527641821	180	L>E		No	1000Genomes ExAC TOPMed gnomAD
rs775327712	180	L>E		No	ExAC TOPMed gnomAD
rs561155698	181	P>C		No	TOPMed
rs768391663	181	P>G		No	ExAC gnomAD
rs561155698	181	P>G		No	TOPMed
rs138554556	181	P>H		No	ESP ExAC TOPMed gnomAD
CA344097626 rs1470776251	181	P>L		No	ClinGen TOPMed gnomAD
CA344097634 rs561155698	183	R>G		No	ClinGen TOPMed
rs371143780	187	T>M		No	ESP ExAC gnomAD
rs201715157	187	T>N		No	1000Genomes ExAC TOPMed gnomAD
rs199705589	188	T>I		No	1000Genomes ExAC gnomAD
CA1314525 rs371143780	189	I>M		No	ClinGen ESP ExAC gnomAD
rs1276140091	189	I>V		No	TOPMed gnomAD
rs867776290	190	T>A		No	TOPMed gnomAD
CA1314526 rs199705589	190	T>I		No	ClinGen 1000Genomes ExAC gnomAD
rs4915154	191	A>A		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1558013560	191	A>M		No	Ensembl
rs1276140091 CA344097684	191	A>V		No	ClinGen TOPMed gnomAD
rs201052150	195	D>C		No	1000Genomes ExAC TOPMed gnomAD
CA1314543 rs201052150	197	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs369311409	197	Y>S		No	1000Genomes ESP ExAC TOPMed gnomAD
CA36182966 rs376744253	198	L>R		No	ClinGen Ensembl
rs1319085292	198	L>V		No	Ensembl
rs917430300	199	N>K		No	TOPMed gnomAD
CA1314544 rs369311409	199	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1289810255	200	A>Q		No	TOPMed
rs1571851078 CA344097746	200	A>T		No	ClinGen Ensembl
CA344097751 rs1319085292	200	A>V		No	ClinGen Ensembl
rs148271722 CA36182968	201	S>A		No	ClinGen ESP
rs1443356733	203	T>I		No	TOPMed
CA36182970 rs74536455	203	T>P		No	ClinGen gnomAD
CA344097780 rs1443356733	205	T>I		No	ClinGen TOPMed
rs774982014	205	T>T		No	ExAC gnomAD
rs762236684	206	L>S		No	ExAC TOPMed gnomAD
CA1314548 rs774982014	207	S>T		No	ClinGen ExAC gnomAD
CA1314549 rs762236684	208	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs999211601	208	P>V		No	TOPMed
rs771923388	210	G>C		No	ExAC gnomAD
rs1428550336	210	G>H		No	TOPMed
rs200613730	210	G>T		No	1000Genomes ExAC TOPMed gnomAD
rs368551275	210	G>V		No	ESP ExAC TOPMed gnomAD
rs1476873676 CA344097816	211	S>I		No	ClinGen gnomAD
rs200613730 CA36182971	212	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200613730 CA1314551	212	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1314552 rs368551275	212	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1466911164	213	V>R		No	gnomAD
rs139323040 CA1314553	214	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1322727034	215	S>I		No	gnomAD
rs148561683 CA1314555	216	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs146065363 CA1314556	217	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1322727034 CA344097848	217	T>I		No	ClinGen gnomAD
rs776036789	218	T>T		No	ExAC TOPMed gnomAD
rs1039401360	219	I>N		No	Ensembl
rs1329107092 CA344097859	219	I>T		No	ClinGen gnomAD
rs1403116788 CA344097878	220	A>G		No	ClinGen gnomAD
rs1370135148	220	A>T		No	gnomAD
TCGA novel	220	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1473079919	222	T>T		No	gnomAD
TCGA novel	224	S>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746042319	224	S>T		No	ExAC gnomAD
rs569454871	225	K>I		No	1000Genomes
rs746042319 CA344097912	226	P>A		No	ClinGen ExAC gnomAD
rs746042319 CA1314594	226	P>S		No	ClinGen ExAC gnomAD
rs746042319 CA344097911	226	P>T		No	ClinGen ExAC gnomAD
CA36183085 rs569454871	227	T>I		No	ClinGen 1000Genomes
rs1482460896	229	D>E		No	Ensembl
VAR_035653	230	E>A	a breast cancer sample; somatic mutation [UniProt]	No	UniProt
CA344032947 rs1282201819	230	E>K		No	ClinGen TOPMed
rs1345142310	230	E>V		No	gnomAD
rs1571861601	231	K>D		No	Ensembl
rs1482460896 CA344032961	231	K>E		No	ClinGen Ensembl
rs749814938	231	K>K		No	ExAC TOPMed gnomAD
CA344032967 rs1571855276	231	K>N		No	ClinGen Ensembl
RCV000506117 CA344032965 rs1553239146	231	K>R		No	ClinGen ClinVar Ensembl dbSNP
rs535416574	232	Y>D		No	1000Genomes ExAC TOPMed gnomAD
rs1571855288 CA344032990	233	A>G		No	ClinGen Ensembl
rs775095087	234	N>F		No	TOPMed gnomAD
rs777341492	235	I>M		No	ExAC gnomAD
rs1571855329	236	T>H		No	Ensembl
CA1314608 rs777341492	237	V>M		No	ClinGen ExAC gnomAD
rs1487228485	238	D>V		No	gnomAD
CA1314609 rs751970504	239	Y>F		No	ClinGen ExAC gnomAD
rs1027514462	239	Y>H		No	TOPMed gnomAD
rs1444834078	240	L>K		No	gnomAD
rs1487228485 CA344033063	240	L>V		No	ClinGen gnomAD
rs1027514462 CA35888519	241	Y>H		No	ClinGen TOPMed gnomAD
CA344033091 rs1267788074	242	N>S		No	ClinGen gnomAD
rs1432861899	243	K>A		No	gnomAD
CA344033125 rs1432861899	245	T>A		No	ClinGen gnomAD
rs969521925	245	T>A		No	Ensembl
rs757784543 CA1314610	248	F>S		No	ClinGen ExAC
rs781701825 CA1314611	250	A>G		No	ClinGen ExAC gnomAD
rs372862661	250	A>I		No	ESP ExAC TOPMed
rs1365709950	252	L>I		No	gnomAD
CA1314612 rs372862661	252	L>I		No	ClinGen ESP ExAC TOPMed
rs370664534	252	L>L		No	ESP ExAC gnomAD
rs868480883	253	N>H		No	Ensembl
rs1365709950 CA344033258	254	V>I		No	ClinGen gnomAD
CA1314613 rs770214288	255	N>H		No	ClinGen ExAC
rs1158057562 CA344033284	255	N>S		No	ClinGen gnomAD
rs1378120301	256	E>A		No	TOPMed
rs1407279022	256	E>M		No	gnomAD
rs375453057	257	N>G		No	ESP ExAC TOPMed gnomAD
rs375453057	257	N>V		No	ESP ExAC TOPMed gnomAD
CA344033355 rs1378120301	258	V>A		No	ClinGen TOPMed
rs568942553	258	V>K		No	1000Genomes ExAC gnomAD
CA344033346 rs1407279022	258	V>M		No	ClinGen gnomAD
rs375453057 CA35888529	259	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA1314615 rs375453057	259	E>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs142941257	259	E>V		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1367301156 CA344033415	261	G>R		No	ClinGen gnomAD
rs1298769494 CA344033481	264	T>I		No	ClinGen gnomAD
TCGA novel	264	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1157716262	264	T>R		No	TOPMed
rs780692784	264	T>V		No	ExAC gnomAD
rs1461459776	265	C>K		No	TOPMed
rs745527713	266	T>Q		No	ExAC gnomAD
CA344033519 rs1157716262	266	T>R		No	ClinGen TOPMed
rs1277551838	267	N>I		No	gnomAD
CA344033572 rs1461459776	267	N>K		No	ClinGen TOPMed
CA344033579 rs1553239175	268	N>D		No	ClinGen Ensembl
rs1284672802	269	E>P		No	gnomAD
rs770968074	270	V>K		No	ExAC TOPMed gnomAD
rs760638253	270	V>S		No	ExAC gnomAD
rs1284672802 CA344033641	271	H>P		No	ClinGen gnomAD
rs1440434993	272	N>F		No	gnomAD
rs1176620686	272	N>H		No	gnomAD
rs770968074 CA1314619	272	N>K		No	ClinGen ExAC TOPMed gnomAD
CA1314618 rs760638253	272	N>S		No	ClinGen ExAC gnomAD
CA344033655 rs1474445832	273	L>I		No	ClinGen TOPMed
rs1189209220	277	K>T		No	gnomAD
rs369888892	277	K>V		No	ESP ExAC TOPMed gnomAD
rs1323507987	279	A>M		No	TOPMed gnomAD
CA1314621 rs369888892	279	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	281	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA344033750 rs1558011361	281	V>L		No	ClinGen Ensembl
rs1240486262	281	V>V		No	TOPMed
rs199673441	284	S>D		No	ExAC gnomAD
CA344033841 rs1178168643	285	H>Q		No	ClinGen gnomAD
rs1427150638	287	S>S		No	gnomAD
rs1427150638 CA344033912	289	T>S		No	ClinGen gnomAD
rs762697900	289	T>S		No	ExAC TOPMed gnomAD
rs762697900 CA1314624	291	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs763464289	293	K>F		No	ExAC TOPMed gnomAD
CA35888588 rs374439003	293	K>T		No	ClinGen Ensembl
CA1314625 rs763464289	295	L>F		No	ClinGen ExAC TOPMed gnomAD
rs774087579	295	L>L		No	ExAC gnomAD
rs750990114	297	L>A		No	ExAC TOPMed gnomAD
rs150366095	297	L>R		No	ESP ExAC TOPMed gnomAD
CA344034084 rs756803136	298	D>H		No	ClinGen ExAC TOPMed gnomAD
CA1314626 rs756803136	298	D>N		No	ClinGen ExAC TOPMed gnomAD
CA1314628 rs750990114	299	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1383621839 CA344034106	299	V>M		No	ClinGen TOPMed
rs1458336940	300	P>V		No	gnomAD
rs899389630	301	P>T		No	TOPMed gnomAD
rs1014891412	301	P>V		No	TOPMed gnomAD
rs1553239425	305	K>R		No	Ensembl
rs1348367829	306	F>H		No	TOPMed gnomAD
rs1279900525	307	Q>L		No	gnomAD
rs1279900525	307	Q>R		No	gnomAD
rs1279900525 CA344034449	309	H>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs750858062 CA1314653	310	D>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1558018509	311	C>E		No	Ensembl
TCGA novel	311	C>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1173201390	311	C>S		No	gnomAD
TCGA novel rs1309002581	313	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA TOPMed
CA344034512 rs1408499004	314	V>I		No	ClinGen Ensembl
rs1309002581 CA344034524	315	E>K		No	ClinGen TOPMed
TCGA novel	320	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1432775291	323	L>G		No	gnomAD
rs759266994	323	L>N		No	ExAC gnomAD
rs1571857129	325	W>H		No	Ensembl
rs1571857129 CA344034719	327	N>H		No	ClinGen Ensembl
rs1210926803 CA344034721	327	N>T		No	ClinGen gnomAD
rs1196444628	327	N>V		No	gnomAD
CA344034735 rs41314039	328	I>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs757887582	328	I>I		No	ExAC gnomAD
rs910573647	328	I>L		No	TOPMed gnomAD
rs747546238	328	I>P		No	Ensembl
rs2274367 CA344034749	329	E>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs748441143	329	E>L		No	ExAC gnomAD
CA344034752 rs1196444628	329	E>V		No	ClinGen gnomAD
rs148025707	330	T>I		No	ESP ExAC TOPMed gnomAD
CA35889259 rs747546238	330	T>P		No	ClinGen Ensembl
CA1314659 rs748441143	331	F>L		No	ClinGen ExAC gnomAD
rs1175166766	332	T>V		No	TOPMed
rs1457312106	335	T>G		No	TOPMed
CA528298321 rs1367893170	336	Q>K		No	ClinGen gnomAD
rs1571866251	336	Q>S		No	Ensembl
rs745750519	337	N>A		No	ExAC gnomAD
CA1314662 rs778005183	337	N>K		No	ClinGen ExAC gnomAD
rs1466660990 CA344034825	338	I>V		No	ClinGen TOPMed
CA1314663 rs745750519	339	T>A		No	ClinGen ExAC gnomAD
rs1196757044	339	T>I		No	TOPMed
rs1478796698	339	T>R		No	gnomAD
rs1193789799	340	Y>F		No	TOPMed gnomAD
rs1193789799	340	Y>I		No	TOPMed gnomAD
rs1432514984	340	Y>V		No	TOPMed
rs1196757044 CA344034847	341	R>I		No	ClinGen TOPMed
TCGA novel	341	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1432514984 CA344034853	342	F>V		No	ClinGen TOPMed
rs775327712 CA1314665	343	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs1188651375	343	Q>K		No	TOPMed
rs1188651375	343	Q>M		No	TOPMed
rs768391663 CA1314666	344	C>G		No	ClinGen ExAC gnomAD
rs866816038	345	G>I		No	Ensembl
rs753089742	345	G>V		No	ExAC TOPMed gnomAD
rs780174638	346	N>G		No	ExAC TOPMed gnomAD
rs763450807	346	N>L		No	ExAC gnomAD
rs866816038 CA35889876	347	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs753089742 CA1314695	347	M>V		No	ClinGen ExAC TOPMed gnomAD
CA1314696 rs763450807	348	I>L		No	ClinGen ExAC gnomAD
rs79141749	349	F>S		No	1000Genomes ESP ExAC TOPMed gnomAD
rs776508151	349	F>S		No	ExAC gnomAD
rs1405744947	350	D>T		No	gnomAD
rs1368901568	351	N>L		No	gnomAD
CA344034940 rs1405744947	352	K>T		No	ClinGen gnomAD
CA35889885 rs867776290	353	E>A		No	ClinGen TOPMed gnomAD
rs751785635	357	E>V		No	ExAC
rs762391496	359	L>A		No	ExAC TOPMed gnomAD
rs751785635 CA1314698 RCV000481445	359	L>V		No	ClinGen ClinVar ExAC dbSNP
rs116464756	360	E>V		No	1000Genomes ESP ExAC TOPMed gnomAD
rs781133917	362	E>K		No	ExAC gnomAD
rs1289810255 CA344035065	363	H>Q		No	ClinGen TOPMed
rs1380213873	363	H>T		No	TOPMed
CA1314700 rs781133917	364	E>K		No	ClinGen ExAC gnomAD
rs1399514174	366	K>L		No	TOPMed
TCGA novel	367	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1333928530	370	E>L		No	TOPMed gnomAD
rs999211601 CA35889910	371	I>V		No	ClinGen TOPMed
rs756498746	371	I>Y		No	ExAC gnomAD
rs1283847750	372	L>R		No	gnomAD
rs536162712	372	L>S		No	1000Genomes ExAC gnomAD
CA1314705 rs771923388	373	Y>C		No	ClinGen ExAC gnomAD
CA344035210 rs1428550336	373	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs536162712 CA1314706	374	N>S		No	ClinGen 1000Genomes ExAC gnomAD
rs144856406	375	N>N		No	1000Genomes ESP ExAC TOPMed gnomAD
rs144856406	375	N>Y		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1466911164 CA344035259	376	H>R		No	ClinGen gnomAD
rs1200104864	377	K>N		No	gnomAD
rs1446430507	378	F>I		No	TOPMed
rs398122383	379	T>E		No	ExAC gnomAD
rs1200104864 CA344035283	379	T>N		No	ClinGen gnomAD
rs776473656	380	N>E		No	ExAC TOPMed gnomAD
TCGA novel	382	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA35889921 rs1039401360	382	S>N		No	ClinGen Ensembl
rs961295368	382	S>R		No	TOPMed gnomAD
CA344035324 rs1370135148	383	K>T		No	ClinGen gnomAD
CA344035345 rs1473079919	385	I>T		No	ClinGen gnomAD
rs141736078	388	D>I		No	1000Genomes ExAC TOPMed gnomAD
rs973848863	388	D>P		No	TOPMed
TCGA novel	388	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs111324714	392	P>H		No	Ensembl
rs1345142310 CA344035623	393	G>V		No	ClinGen gnomAD
CA344035637 rs1571861601	394	E>D		No	ClinGen Ensembl
rs749814938 CA1314732	394	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1553241686	394	E>Y		No	Ensembl
TCGA novel	396	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs145357582	396	Q>T		No	1000Genomes ESP ExAC TOPMed gnomAD
rs145357582 CA1314734	398	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200107066	399	F>G		No	1000Genomes ExAC gnomAD
rs774053060	401	R>D		No	ExAC TOPMed gnomAD
CA1314736 rs200107066	401	R>G		No	ClinGen 1000Genomes ExAC gnomAD
CA344035749 rs1444834078	403	E>K		No	ClinGen gnomAD
rs773554356	403	E>V		No	ExAC gnomAD
rs1233081842	404	A>S		No	TOPMed
rs760733209	405	A>H		No	ExAC gnomAD
CA1314737 rs773554356	405	A>V		No	ClinGen ExAC gnomAD
rs141099643	406	H>Y		No	ESP ExAC TOPMed gnomAD
rs760733209 CA1314738	407	Q>H		No	ClinGen ExAC gnomAD
CA35891338 rs969521925	408	G>A		No	ClinGen Ensembl
rs1224679877	409	V>A		No	gnomAD
rs752565895	414	P>K		No	ExAC gnomAD
rs370664534 CA1314739	415	P>L		No	ClinGen ESP ExAC gnomAD
CA35891353 rs868480883	416	Q>H		No	ClinGen Ensembl
CA1314740 rs752565895	416	Q>K		No	ClinGen ExAC gnomAD
rs1363071799	416	Q>P		No	gnomAD
rs1363071799 CA344035935	418	S>P		No	ClinGen gnomAD
TCGA novel	420	H>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs6696162	421	N>I		No	1000Genomes ESP ExAC TOPMed gnomAD
rs568942553 CA1314741	421	N>K		No	ClinGen 1000Genomes ExAC gnomAD
rs142046206	422	F>F		No	ESP ExAC TOPMed gnomAD
rs757143414	424	L>C		No	ExAC gnomAD
rs142046206 CA1314743	424	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	424	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757143414 CA1314744	426	Y>C		No	ClinGen ExAC gnomAD
rs755614890	427	I>A		No	ExAC TOPMed gnomAD
CA1314745 rs780692784	427	I>V		No	ClinGen ExAC gnomAD
CA1314747 rs755614890	429	E>A		No	ClinGen ExAC TOPMed gnomAD
CA1314746 rs745527713	429	E>Q		No	ClinGen ExAC gnomAD
CA344036157 rs1277551838	430	T>I		No	ClinGen gnomAD
rs140403368	431	E>N		No	ESP ExAC TOPMed gnomAD
rs536124035	431	E>V		No	1000Genomes ExAC gnomAD
CA1314772 rs536124035	433	D>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1406436986	434	C>D		No	gnomAD
CA344037182 rs1440434993	435	L>F		No	ClinGen gnomAD
CA344037183 rs1176620686	435	L>H		No	ClinGen gnomAD
rs372250925	435	L>M		No	ESP ExAC gnomAD
CA344037189 rs1406436986	436	N>D		No	ClinGen gnomAD
rs772260882	436	N>E		No	ExAC TOPMed gnomAD
rs372250925 CA1314774	437	L>M		No	ClinGen ESP ExAC gnomAD
rs772260882 CA344037222	438	D>E		No	ClinGen ExAC TOPMed gnomAD
rs375608198	439	K>M		No	ESP ExAC TOPMed gnomAD
rs1235335248	440	N>S		No	TOPMed
rs1235335248	440	N>T		No	TOPMed
rs1323507987 CA344037271	442	I>M		No	ClinGen TOPMed gnomAD
rs1235335248 CA344037266	442	I>S		No	ClinGen TOPMed
CA344037268 rs1235335248	442	I>T		No	ClinGen TOPMed
TCGA novel	449	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1571864910	450	K>C		No	Ensembl
rs771120252	451	P>M		No	ExAC TOPMed gnomAD
rs1297093496	451	P>S		No	gnomAD
rs1571864910 CA344037412	452	Y>C		No	ClinGen Ensembl
rs759520877	452	Y>I		No	ExAC TOPMed gnomAD
rs771120252 CA1314778	453	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1314780 rs759520877	454	K>I		No	ClinGen ExAC TOPMed gnomAD
rs1389355995	455	Y>F		No	TOPMed
rs1173999476	456	V>T		No	TOPMed
CA344037510 rs1389355995	457	L>F		No	ClinGen TOPMed
rs774087579 CA1314782	458	S>L		No	ClinGen ExAC gnomAD
CA344037517 rs1173999476	458	S>T		No	ClinGen TOPMed
TCGA novel	460	H>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1314783 rs150366095	460	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA344037596 rs1458336940	463	I>V		No	ClinGen gnomAD
CA35893060 rs1014891412	464	I>V		No	ClinGen TOPMed gnomAD
rs1484547355	465	A>M		No	gnomAD
rs1417710516	467	V>C		No	gnomAD
CA344037663 rs1484547355	467	V>M		No	ClinGen gnomAD
rs1417710516 CA344037699	469	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1348367829 CA344037703	469	R>H		No	ClinGen TOPMed gnomAD
rs1274421382	470	N>N		No	TOPMed
rs148702806	470	N>R		No	1000Genomes TOPMed
CA344037750 rs1274421382	472	S>N		No	ClinGen TOPMed
CA35893079 rs148702806	472	S>R		No	ClinGen 1000Genomes TOPMed
rs1173201390	472	S>T		No	gnomAD
rs995052397	473	A>R		No	Ensembl
TCGA novel	473	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA344037782 rs1558018509	474	A>E		No	ClinGen Ensembl
rs1173201390 CA344037771	474	A>S		No	ClinGen gnomAD
CA344037774 rs1173201390	474	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs750217413	474	A>Y		No	ExAC gnomAD
rs995052397 CA35893081	475	M>R		No	ClinGen Ensembl
CA1314785 rs750217413	476	C>Y		No	ClinGen ExAC gnomAD
rs1410179985	478	F>S		No	gnomAD
rs61749266	479	T>E		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1029540128	479	T>R		No	TOPMed
rs371081329	480	T>C		No	ESP ExAC gnomAD
rs1410179985 CA344037868	480	T>S		No	ClinGen gnomAD
rs1029540128 CA35893089	481	K>R		No	ClinGen TOPMed
CA1314787 rs371081329	482	S>C		No	ClinGen ESP ExAC gnomAD
rs762144487	482	S>S		No	ExAC TOPMed gnomAD
TCGA novel	483	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200407298	484	P>R		No	ExAC TOPMed gnomAD
rs762144487 CA1314788	484	P>S		No	ClinGen ExAC TOPMed gnomAD
CA1314807 rs759266994	486	S>N		No	ClinGen ExAC gnomAD
TCGA novel	489	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs545961977	491	M>I		No	ExAC gnomAD
rs757887582 CA1314810	491	M>I		No	ClinGen ExAC gnomAD
rs757549269	492	T>T		No	ExAC gnomAD
rs757549269 CA1314813	494	S>T		No	ClinGen ExAC gnomAD
TCGA novel	495	M>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1175166766 CA344038794	495	M>V		No	ClinGen TOPMed
rs555467190	496	T>E		No	ExAC gnomAD
rs1457312106 CA344038841	498	D>G		No	ClinGen TOPMed
rs756334751	498	D>R		No	ExAC gnomAD
rs1571866251 CA344038854	499	N>S		No	ClinGen Ensembl
rs756334751 CA1314816	500	S>R		No	ClinGen ExAC gnomAD
rs200974882	500	S>Y		No	gnomAD
CA344038902 rs1478796698	502	H>R		No	ClinGen gnomAD
rs200974882 CA35893536	502	H>Y		No	ClinGen gnomAD
rs1193789799 CA344038917	503	V>F		No	ClinGen TOPMed gnomAD
rs867897766	505	C>L		No	Ensembl
CA344038957 rs1188651375	506	R>K		No	ClinGen TOPMed
CA344038960 rs1188651375	506	R>M		No	ClinGen TOPMed
rs749379347	507	P>K		No	ExAC gnomAD
rs867897766 CA35893548	507	P>L		No	ClinGen Ensembl
rs768919403	507	P>S		No	ExAC gnomAD
rs1315889906	508	P>G		No	gnomAD
rs773229991	508	P>N		No	ExAC TOPMed gnomAD
rs746951007	509	R>C		No	ExAC TOPMed gnomAD
CA1314817 rs780174638	509	R>G		No	ClinGen ExAC TOPMed gnomAD
rs770812820	509	R>H		No	ExAC TOPMed gnomAD
rs749379347 CA1314818	509	R>K		No	ClinGen ExAC gnomAD
CA1314819 rs768919403	509	R>S		No	ClinGen ExAC gnomAD
CA344039013 rs1315889906	510	D>G		No	ClinGen gnomAD
rs773229991 CA1314820	510	D>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	510	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1314822 rs770812820	511	R>H		No	ClinGen ExAC TOPMed gnomAD
rs776508151 CA1314823	512	N>S		No	ClinGen ExAC gnomAD
rs1571866364	513	G>Q		No	Ensembl
rs759300201	514	P>G		No	ExAC gnomAD
CA344039079 rs1368901568	514	P>L		No	ClinGen gnomAD
rs764913234	515	H>H		No	ExAC TOPMed gnomAD
rs764913234	515	H>L		No	ExAC TOPMed gnomAD
rs1571866364 CA344039099	515	H>Q		No	ClinGen Ensembl
TCGA novel	515	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759300201 CA1314824	516	E>G		No	ClinGen ExAC gnomAD
CA1314826 rs764913234	517	R>H		No	ClinGen ExAC TOPMed gnomAD
CA1314825 rs764913234	517	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1203819767	517	R>R		No	TOPMed gnomAD
rs762391496 CA1314827	522	V>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs904577980	523	E>R		No	TOPMed
rs1435298808	525	G>I		No	TOPMed
rs904577980 CA35893568	525	G>R		No	ClinGen TOPMed
rs1213903585	525	G>S		No	TOPMed gnomAD
rs1399514174	527	T>F		No	TOPMed
CA344039308 rs1435298808	527	T>I		No	ClinGen TOPMed
CA344039303 rs1213903585	527	T>S		No	ClinGen TOPMed gnomAD
CA344039321 rs1399514174	529	V>F		No	ClinGen TOPMed
rs757782403	529	V>H		No	ExAC gnomAD
rs1399514174 CA344039319	529	V>L		No	ClinGen TOPMed
rs892297670	531	N>T		No	TOPMed gnomAD
rs780306635	533	S>E		No	ExAC gnomAD
rs892297670 CA35893582	533	S>T		No	ClinGen TOPMed gnomAD
rs1046297823	534	H>H		No	TOPMed
rs756498746 CA1314833	534	H>Y		No	ClinGen ExAC gnomAD
CA1314834 rs780306635	535	K>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	535	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA344039425 rs1283847750	535	K>R		No	ClinGen gnomAD
CA35893605 rs1046297823	536	N>H		No	ClinGen TOPMed
rs373995444	538	D>C		No	ESP
rs140422357	538	D>H		No	1000Genomes ESP ExAC TOPMed gnomAD
rs144856406 CA1314837	538	D>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	539	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs398122383	540	R>*		No	ExAC gnomAD
rs373995444 CA35893611	540	R>C		No	ClinGen ESP
CA1314838 rs140422357	540	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1237473864	540	R>N		No	TOPMed gnomAD
rs1446430507 CA344039525	541	V>I		No	ClinGen TOPMed
TCGA novel	541	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1314839 rs398122383	542	K>E		No	ClinGen ExAC gnomAD
CA344039551 rs1237473864	542	K>N		No	ClinGen TOPMed gnomAD
rs776473656 CA1314840	543	D>E		No	ClinGen ExAC TOPMed gnomAD
rs961295368 CA35893619	545	Q>R		No	ClinGen TOPMed gnomAD
rs145467564	546	Y>A		No	ESP ExAC TOPMed gnomAD
rs141736078	549	D>N		No	1000Genomes ExAC TOPMed gnomAD
rs141736078	549	D>S		No	1000Genomes ExAC TOPMed gnomAD
TCGA novel	550	Y>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1314844 rs141736078	551	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs141736078 CA1314845	551	T>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA35893628 rs973848863	551	T>P		No	ClinGen TOPMed
CA344039771 rs141736078	551	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1187048060	552	F>S		No	gnomAD
CA344040702 rs1187048060	554	A>S		No	ClinGen gnomAD
rs111324714 CA35895253	555	Y>H		No	ClinGen Ensembl
CA344040768 rs1553241686	557	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs760244730	558	N>N		No	ExAC TOPMed gnomAD
rs749130052	560	D>R		No	ExAC gnomAD
rs749130052 CA1314863	562	P>R		No	ClinGen ExAC gnomAD
rs761297445	563	G>H		No	ExAC TOPMed gnomAD
CA1314865 rs774053060	564	E>D		No	ClinGen ExAC TOPMed gnomAD
rs761297445 CA1314866	565	P>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1342798273	567	I>R		No	TOPMed gnomAD
rs1233081842 CA344041053	567	I>S		No	ClinGen TOPMed
rs12136658	568	L>Q		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1342798273 CA344041082	569	H>R		No	ClinGen TOPMed gnomAD
rs1224679877 CA344041138	572	T>A		No	ClinGen gnomAD
rs1232880849 CA344041448	576	S>P		No	ClinGen gnomAD
TCGA novel	576	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1301167651 CA344041475	578	A>S		No	ClinGen gnomAD
rs771574542 CA1314884	578	A>V		No	ClinGen ExAC gnomAD
rs771312617 CA1314887	580	I>R		No	ClinGen ExAC gnomAD
CA344041508 rs1253545148	580	I>V		No	ClinGen TOPMed
rs1191758134 CA344041574	584	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	585	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA344041581 rs1558026203	585	F>L		No	ClinGen Ensembl
CA1314889 rs759967913	589	V>E		No	ClinGen ExAC gnomAD
rs1317350264 CA344041665	590	T>A		No	ClinGen Ensembl
rs775814368 CA1314891	591	S>L		No	ClinGen ExAC gnomAD
TCGA novel	591	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763104128 CA1314892	592	I>K		No	ClinGen ExAC TOPMed gnomAD
CA35897361 rs1056876972	592	I>M		No	ClinGen TOPMed gnomAD
CA344041707 rs763104128	592	I>T		No	ClinGen ExAC TOPMed gnomAD
CA344041702 rs1459728691	592	I>V		No	ClinGen gnomAD
rs894658611 CA35897364	593	A>V		No	ClinGen TOPMed
rs751560682 CA1314894	595	L>F		No	ClinGen ExAC TOPMed gnomAD
rs559763513 CA35897384	596	V>A		No	ClinGen Ensembl
rs150416673 CA1314896	596	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs913617703 CA35897387	599	Y>C		No	ClinGen Ensembl
CA35897389 rs111414217	602	Y>H		No	ClinGen gnomAD
rs754699279 CA1314898	603	D>G		No	ClinGen ExAC gnomAD
rs200838498 CA35897402	603	D>N		No	ClinGen 1000Genomes TOPMed
rs778714061 CA1314899	605	H>N		No	ClinGen ExAC gnomAD
CA344041959 rs1314941487	605	H>P		No	ClinGen TOPMed gnomAD
CA344041961 rs1314941487	605	H>R		No	ClinGen TOPMed gnomAD
rs1571875954 CA344042218	613	D>N		No	ClinGen Ensembl
CA1314916 rs754933499	614	E>K		No	ClinGen ExAC TOPMed gnomAD
CA35897642 rs1055527772	615	Q>*		No	ClinGen Ensembl
TCGA novel	617	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA344042378 rs1257220764	619	V>A		No	ClinGen TOPMed gnomAD
rs772094735	622	D>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs143761683 CA35898348	623	D>N		No	ClinGen Ensembl
rs1263008575 CA344043673	624	E>K		No	ClinGen gnomAD
CA1314936 rs773256126	626	Q>K		No	ClinGen ExAC gnomAD
CA1314937 rs760788576	628	M>L		No	ClinGen ExAC gnomAD
CA1314938 rs760788576	628	M>V		No	ClinGen ExAC gnomAD
rs1455154652 CA344043864	630	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA344043923 rs1174214848	632	P>S		No	ClinGen gnomAD
rs1461988340 CA344044040	635	A>E		No	ClinGen TOPMed
rs147240717 CA35898363	636	D>N		No	ClinGen ESP TOPMed gnomAD
rs997103605 CA35898373	638	L>F		No	ClinGen Ensembl
rs188500261 CA1314943	643	K>N		No	ClinGen 1000Genomes ExAC gnomAD
CA344044275 rs1262750110	644	R>S		No	ClinGen TOPMed
CA344044293 rs1287241431	645	K>R		No	ClinGen TOPMed gnomAD
CA1314944 rs781031345	646	I>T		No	ClinGen ExAC gnomAD
CA344044406 rs1467438457	648	D>H		No	ClinGen TOPMed
CA1314946 rs755739844	649	E>D		No	ClinGen ExAC gnomAD
TCGA novel	652	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780363618 CA1314947	653	F>C		No	ClinGen ExAC gnomAD
rs1346325559	653	F>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	654	L>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs868698846 CA35898403	655	A>T		No	ClinGen gnomAD
TCGA novel	656	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs724159905 CA35898416	658	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA35898754 rs955667806	659	S>N		No	ClinGen TOPMed
rs755490983 CA1314968	661	P>L		No	ClinGen ExAC gnomAD
CA344044985 rs755490983	661	P>Q		No	ClinGen ExAC gnomAD
CA344045005 rs1420379983	663	V>L		No	ClinGen gnomAD
CA344045067 rs1462134158	665	S>C		No	ClinGen gnomAD
rs1164362432 CA344045093	665	S>R		No	ClinGen gnomAD
rs914273938 CA35898766	666	K>R		No	ClinGen Ensembl
CA35898767 rs932560948	667	F>C		No	ClinGen Ensembl
CA344045147 rs1388692001	667	F>L		No	ClinGen gnomAD
CA1314969 rs779332137	669	I>L		No	ClinGen ExAC TOPMed gnomAD
CA344045191 rs779332137	669	I>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	673	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748511747 CA1314970	673	R>Q		No	ClinGen ExAC gnomAD
CA344045353 rs190742492	674	K>N		No	ClinGen 1000Genomes ExAC gnomAD
CA344045364 rs1558028673	675	P>S		No	ClinGen Ensembl
rs1237012473 CA344045389	676	F>L		No	ClinGen TOPMed
rs981861112 CA35898774	678	Q>R		No	ClinGen TOPMed
CA1314973 rs747237754	679	N>T		No	ClinGen ExAC gnomAD
rs866967402 CA35898787	681	N>K		No	ClinGen Ensembl
rs770877340 CA1314974	681	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1272096027 CA344045526	683	Y>H		No	ClinGen gnomAD
CA1314975 rs147515054	684	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA344045607 rs1437158895	687	L>P		No	ClinGen gnomAD
rs1558028738 CA344045644	689	Y>H		No	ClinGen Ensembl
rs1047743116 CA35898879	690	D>G		No	ClinGen TOPMed
rs1349086882 CA344045779	691	Y>C		No	ClinGen TOPMed
CA1314993 rs781335157	693	R>L		No	ClinGen ExAC TOPMed gnomAD
rs745947898 CA1314994	694	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1003000820 CA35898889	696	L>F		No	ClinGen TOPMed
rs1003000820 CA35898885	696	L>I		No	ClinGen TOPMed
rs769776749 CA1314995	697	S>A		No	ClinGen ExAC gnomAD
CA1314996 rs200818686	700	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1448955102 CA344046023	701	G>R		No	ClinGen gnomAD
CA1314997 rs372940886	702	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA35898900 rs772193588	703	A>V		No	ClinGen gnomAD
rs771941224 CA1314998	705	S>P		No	ClinGen ExAC TOPMed gnomAD
CA1314999 rs771941224	705	S>T		No	ClinGen ExAC TOPMed gnomAD
CA344046196 rs760430276	708	I>L		No	ClinGen ExAC TOPMed gnomAD
CA1315001 rs766053951	711	S>N		No	ClinGen ExAC TOPMed gnomAD
rs759033254 CA1315003	712	Y>H		No	ClinGen ExAC gnomAD
CA344046354 rs1399662158	713	I>M		No	ClinGen gnomAD
TCGA novel	714	D>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	715	G>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA35899609 rs148550226	717	K>R		No	ClinGen ESP
rs1239416943 CA344047413	722	Y>H		No	ClinGen gnomAD
rs770650182 CA1315020	724	A>S		No	ClinGen ExAC gnomAD
TCGA novel	725	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA35899612 rs888138109	725	A>V		No	ClinGen gnomAD
CA344047611 rs1476365376	728	P>S		No	ClinGen gnomAD
CA344047700 rs1413986135	732	T>A		No	ClinGen gnomAD
CA1315038 rs770916216	733	V>A		No	ClinGen ExAC TOPMed gnomAD
CA1315039 rs745727510	734	D>G		No	ClinGen ExAC TOPMed gnomAD
rs745727510 CA1315040	734	D>V		No	ClinGen ExAC TOPMed gnomAD
rs201711547 CA35899685	735	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1558029970 CA344047771	735	D>N		No	ClinGen Ensembl
rs201711547 CA1315041	735	D>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1416321590 CA344047873	741	W>C		No	ClinGen gnomAD
rs1186517033 CA344047875	742	E>K		No	ClinGen TOPMed
CA35899713 rs1011811934	747	V>F		No	ClinGen TOPMed
TCGA novel	749	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA344048071 rs1464440498	751	V>A		No	ClinGen TOPMed
TCGA novel	753	R>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA344048112 rs1558030034	753	R>P		No	ClinGen Ensembl
CA344048118 rs1297770118	754	C>R		No	ClinGen gnomAD
rs762248930 CA1315045	757	G>R		No	ClinGen ExAC gnomAD
rs1389586846 CA344048405	760	N>S		No	ClinGen gnomAD
rs766855254 CA1315073	767	P>L		No	ClinGen ExAC gnomAD
rs1318618552 CA344048568	767	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs765547769 CA1315076	768	S>L		No	ClinGen ExAC gnomAD
TCGA novel	771	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs758572135 CA344048683	771	E>D		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	772	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755859528 CA1315082	774	R>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs755859528 CA1315081	774	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs754554765 CA1315084	777	G>E		No	ClinGen ExAC gnomAD
CA1315085 rs146726593	779	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs747600609 CA344048837	781	V>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	781	V>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1315086 rs747600609	781	V>L		No	ClinGen ExAC TOPMed gnomAD
CA344048869 rs771626124	782	K>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA1315088 rs773525497	783	I>F		No	ClinGen ExAC gnomAD
rs773525497 CA344048877	783	I>V		No	ClinGen ExAC gnomAD
CA344048903 rs1456885006	784	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA35900374 rs984623613	785	Q>K		No	ClinGen TOPMed gnomAD
CA344048952 rs747550206	786	H>D		No	ClinGen ExAC gnomAD
rs747550206 CA1315089	786	H>Y		No	ClinGen ExAC gnomAD
TCGA novel	788	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771377149 CA344048997	788	R>I		No	ClinGen ExAC gnomAD
rs771377149 CA1315090	788	R>T		No	ClinGen ExAC gnomAD
CA35900388 rs754874718	790	P>T		No	ClinGen gnomAD
rs760021216 CA1315092	791	D>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs765375367 CA1315093	792	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs775791258 CA1315094	795	Q>E		No	ClinGen ExAC gnomAD
rs185420520 CA344049138	799	I>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1390027243 CA344049143	799	I>T		No	ClinGen TOPMed
rs185420520 CA1315096	799	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs750307063 CA1315097	800	V>G		No	ClinGen ExAC gnomAD
rs766288126 CA1315118	802	K>E		No	ClinGen ExAC gnomAD
TCGA novel	804	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1315119 rs570434674	804	E>G		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	806	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1390040376 CA344050065	808	G>E		No	ClinGen gnomAD
rs868731512 CA35908538	808	G>K		No	ClinGen Ensembl
CA344050082 rs1428289344	809	R>I		No	ClinGen gnomAD
rs759187376 CA344050104 CA1315120	811	V>L		No	ClinGen ExAC TOPMed gnomAD
CA1315121 rs369548767	812	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs534640068 CA1315122	813	H>L		No	ClinGen 1000Genomes ExAC gnomAD
CA344050127 rs1380628774	813	H>Y		No	ClinGen TOPMed
rs1284276363 CA344050153	814	I>M		No	ClinGen TOPMed
rs758051506 CA1315123	820	P>Q		No	ClinGen ExAC gnomAD
CA1315127 rs781735584	823	G>E		No	ClinGen ExAC gnomAD
rs1457572280 CA344050346	824	V>M		No	ClinGen TOPMed
CA344050402 rs746414371	829	H>D		No	ClinGen ExAC TOPMed gnomAD
rs746414371 CA344050401	829	H>N		No	ClinGen ExAC TOPMed gnomAD
rs1162634081 CA344050411	829	H>Q		No	ClinGen TOPMed
rs746414371 CA1315128	829	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs998867545 CA35908637	834	L>V		No	ClinGen Ensembl
CA344050468 rs1248023009	835	R>T		No	ClinGen gnomAD
rs1175976011 CA344050518	838	V>A		No	ClinGen gnomAD
rs768860842 CA1315132	839	N>S		No	ClinGen ExAC gnomAD
rs1320599780 CA344050564	842	S>G		No	ClinGen gnomAD
rs373509702 CA344050573	842	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs143328050 CA1315137	843	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs868289664 CA35908707	848	P>A		No	ClinGen Ensembl
rs868289664 CA35908710	848	P>S		No	ClinGen Ensembl
rs753992254 CA35908729	849	I>S		No	ClinGen Ensembl
rs762727020 CA1315140	850	V>M		No	ClinGen ExAC TOPMed gnomAD
CA1315183 rs766849638	857	V>A		No	ClinGen ExAC gnomAD
CA1315185 rs755297330	859	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1182454664 CA344051095	860	T>A		No	ClinGen gnomAD
CA1315186 rs779274312	862	T>S		No	ClinGen ExAC gnomAD
CA35909086 rs934230097	864	I>V		No	ClinGen Ensembl
CA1315188 rs758589060	865	G>E		No	ClinGen ExAC gnomAD
VAR_035654	865	G>R	a breast cancer sample; somatic mutation [UniProt]	No	UniProt
TCGA novel	868	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs868210193 CA35909092	868	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs747103347 CA1315190	869	M>T		No	ClinGen ExAC gnomAD
CA344051167 rs1187953980	871	E>V		No	ClinGen TOPMed
RCV000519751 rs768760266 CA1315194	876	E>K		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs761763145 CA1315196	877	N>S		No	ClinGen ExAC gnomAD
CA1315197 rs771742205	878	K>T		No	ClinGen ExAC gnomAD
CA344051226 rs1408862921	880	D>G		No	ClinGen Ensembl
rs1558034732 CA344051245	883	G>D		No	ClinGen Ensembl
CA1315199 rs760163468	883	G>S		No	ClinGen ExAC gnomAD
CA1315201 rs552482393	885	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs765774003 CA1315203	890	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA35909181 rs777458591	891	Q>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA35909189 rs724159906	897	Q>*		No	ClinGen Ensembl
rs1391880702 CA344051351	899	E>D		No	ClinGen gnomAD
CA1315205 rs758824419	899	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA1315227 rs752001828	900	A>T		No	ClinGen ExAC gnomAD
CA1315228 rs757388260 COSM1222593	903	I>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA344051386 rs757388260	903	I>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	907	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781540664 CA344051423	908	A>S		No	ClinGen ExAC TOPMed gnomAD
rs781540664 CA1315229	908	A>T		No	ClinGen ExAC TOPMed gnomAD
CA344051426 rs1204008943	908	A>V		No	ClinGen TOPMed
rs1201281140 CA344051431	909	L>S		No	ClinGen TOPMed gnomAD
CA344051438 rs1269498153	910	V>A		No	ClinGen gnomAD
rs370225108 CA35910658	913	N>D		No	ClinGen ESP TOPMed
rs532932175 CA1315231	913	N>S		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	917	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1186661580 CA344051535	920	V>G		No	ClinGen Ensembl
rs1479567432 CA344051597	925	L>F		No	ClinGen TOPMed gnomAD
CA35910673 rs955941415	926	H>P		No	ClinGen TOPMed gnomAD
CA35910680 rs373417813 CA1315235	926	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA344051602 rs1161583439	926	H>Y		No	ClinGen gnomAD
CA1315238 rs776327098	928	Y>C		No	ClinGen ExAC gnomAD
CA1315239 rs745328274	929	L>R		No	ClinGen ExAC gnomAD
CA1315240 rs769300403	930	H>P		No	ClinGen ExAC gnomAD
CA344051691 rs1289757315	932	M>V		No	ClinGen gnomAD
rs1036138276 CA35910745	933	K>Q		No	ClinGen Ensembl
rs1227230049 CA344051758	936	D>V		No	ClinGen gnomAD
rs1356591636 CA344051766	937	P>A		No	ClinGen TOPMed
CA344051765 rs1356591636	937	P>T		No	ClinGen TOPMed
CA344051830 rs1453221446	941	P>S		No	ClinGen gnomAD
rs1489778907 CA344051851	943	P>A		No	ClinGen TOPMed gnomAD
rs1184620018 CA344051853	943	P>L		No	ClinGen gnomAD
CA344051860 rs1179228310	944	L>I		No	ClinGen TOPMed
rs566410564 CA35910760	948	F>L		No	ClinGen 1000Genomes
rs762292865 CA1315245	949	Q>H		No	ClinGen ExAC
rs1313856921 CA344052721	952	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1432087485 CA344052731	953	S>L		No	ClinGen gnomAD
CA1315275 rs762015863	954	Y>H		No	ClinGen ExAC gnomAD
rs773518617 CA1315277	957	W>L		No	ClinGen ExAC
CA1315276 rs768022867	957	W>R		No	ClinGen ExAC gnomAD
rs1571892394 CA344052780	958	R>G		No	ClinGen Ensembl
TCGA novel	960	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	960	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA344052827 rs1314371588	964	N>D		No	ClinGen gnomAD
rs1230390135 CA344052867	969	K>E		No	ClinGen gnomAD
rs1187234089 CA344052900	973	R>K		No	ClinGen gnomAD
TCGA novel	974	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1315281 rs115365240	974	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1315283 rs763882896	978	I>L		No	ClinGen ExAC TOPMed gnomAD
CA344052937 rs1443134472	978	I>M		No	ClinGen TOPMed gnomAD
CA344052932 rs763882896	978	I>V		No	ClinGen ExAC TOPMed gnomAD
CA1315284 rs3208670	979	P>L		No	ClinGen ExAC gnomAD
rs1379051096 CA344052967	981	D>G		No	ClinGen gnomAD
rs772754968 CA1315299	983	N>S		No	ClinGen ExAC gnomAD
CA1315301 rs761188813	984	R>S		No	ClinGen ExAC gnomAD
TCGA novel	986	P>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA344053004 rs1384155377	986	P>S		No	ClinGen TOPMed gnomAD
CA344053070 rs1325256245	991	L>V		No	ClinGen gnomAD
rs1331421846 CA344053114	994	S>N		No	ClinGen gnomAD
rs1223167076 CA344053124	995	K>E		No	ClinGen gnomAD
CA344053148 rs1281539639	996	E>D		No	ClinGen gnomAD
rs759469850 CA1315304	998	E>K		No	ClinGen ExAC gnomAD
rs1558038713 CA344053194	999	H>P		No	ClinGen Ensembl
CA1315306 rs183414449	1000	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1485162890 CA344053208	1000	D>V		No	ClinGen gnomAD
rs1268528022 CA344053225	1002	D>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1268528022 CA344053223	1002	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA344053253 rs1558038744	1004	S>T		No	ClinGen Ensembl
rs1451324443 CA344053287	1006	D>E		No	ClinGen gnomAD
rs368408007 CA1315307	1007	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1473323403 CA344053312	1008	D>E		No	ClinGen gnomAD
rs1426751800 CA344053308	1008	D>G		No	ClinGen gnomAD
rs767506577 CA1315308	1012	E>D		No	ClinGen ExAC gnomAD
rs1287644160 CA344053356	1012	E>Q		No	ClinGen gnomAD
rs750200877 CA1315309	1013	E>D		No	ClinGen ExAC TOPMed gnomAD
rs755914577 CA1315310	1015	S>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1016	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1326536949 CA344053428	1017	Y>F		No	ClinGen gnomAD
TCGA novel	1021	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA344053483 rs1412205853	1021	S>F		No	ClinGen TOPMed
TCGA novel	1021	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1315352 rs759308256	1026	Y>H		No	ClinGen ExAC gnomAD
rs146768191 CA35915428	1027	W>G		No	ClinGen ESP TOPMed gnomAD
rs146768191 CA35915423	1027	W>R		No	ClinGen ESP TOPMed gnomAD
CA344053925 rs1558039439	1028	K>N		No	ClinGen Ensembl
CA1315353 rs764886794	1032	M>I		No	ClinGen ExAC gnomAD
rs1435149327 CA344053958	1033	I>T		No	ClinGen gnomAD
CA344053961 rs1406268326	1034	A>T		No	ClinGen gnomAD
rs752405008 CA1315354	1034	A>V		No	ClinGen ExAC gnomAD
CA344053973 rs1283424865	1036	Q>*		No	ClinGen gnomAD
rs1468243929 CA344053983	1037	G>E		No	ClinGen gnomAD
rs1390013254 CA344054002	1040	K>M		No	ClinGen gnomAD
rs757944444 CA1315355	1040	K>N		No	ClinGen ExAC gnomAD
CA344054011 rs1287465055	1041	E>D		No	ClinGen gnomAD
rs200078132 CA1315356	1042	T>N		No	ClinGen ExAC TOPMed gnomAD
CA1315358 rs757755223	1043	I>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1044	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1045	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs376600221 CA1315360	1048	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs756437273 CA1315361	1049	M>I		No	ClinGen ExAC gnomAD
rs1422687122 CA344054080	1051	F>C		No	ClinGen TOPMed
CA344054078 rs1422687122	1051	F>Y		No	ClinGen TOPMed
rs763015753 CA35915518	1052	Q>P		No	ClinGen Ensembl
rs1571894603 CA344054098	1054	K>E		No	ClinGen Ensembl
rs749532441 CA1315363	1055	V>F		No	ClinGen ExAC TOPMed gnomAD
CA1315365 rs774382417	1056	K>N		No	ClinGen ExAC gnomAD
CA1315364 rs768913853	1056	K>T		No	ClinGen ExAC gnomAD
rs1413469866 CA344054125	1058	I>T		No	ClinGen TOPMed
CA344054141 rs1404990626	1060	M>I		No	ClinGen TOPMed
CA1315367 rs770888148	1061	L>M		No	ClinGen ExAC gnomAD
rs776447281 CA1315368	1062	T>R		No	ClinGen ExAC gnomAD
CA344054153 rs1274597159	1063	E>K		No	ClinGen gnomAD
rs893233686 CA344054173	1065	K>N		No	ClinGen TOPMed
TCGA novel	1068	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769904440 CA1315388	1071	I>L		No	ClinGen ExAC gnomAD
rs1332346612 CA344054229	1072	C>S		No	ClinGen TOPMed
rs190241405 CA1315392	1074	Q>H		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	1074	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1315391 rs768362013	1074	Q>R		No	ClinGen ExAC gnomAD
CA344054286 rs1356958968	1079	G>V		No	ClinGen gnomAD
rs1407127879 CA344054287	1080	K>Q		No	ClinGen TOPMed
rs1207569725 CA344054299	1081	Q>R		No	ClinGen gnomAD
rs1437379406 CA344054320	1084	G>E		No	ClinGen gnomAD
CA344054323 rs1426518506	1085	D>N		No	ClinGen gnomAD
TCGA novel	1085	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1315394 rs766956245	1086	I>T		No	ClinGen ExAC TOPMed gnomAD
rs540174573 CA344054343 CA1315396	1087	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA344054363 rs1183472769	1091	K>Q		No	ClinGen TOPMed gnomAD
rs368690279 CA1315398	1092	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs984089455 CA344054382	1093	T>K		No	ClinGen gnomAD
CA344054389 rs1169345578	1094	D>E		No	ClinGen TOPMed gnomAD
rs140384318 CA1315399	1095	K>I		No	ClinGen ESP ExAC gnomAD
CA344054407 rs1184798264	1097	S>L		No	ClinGen TOPMed
rs1462340448 CA344054411	1098	T>A		No	ClinGen TOPMed
rs779041130 CA1315400	1099	Y>C		No	ClinGen ExAC gnomAD
CA35916862 rs951725063	1099	Y>H		No	ClinGen TOPMed gnomAD
rs752896056 CA1315401	1101	L>F		No	ClinGen ExAC gnomAD
CA1315403 rs777695549	1102	R>H		No	ClinGen ExAC TOPMed gnomAD
CA344054466 rs769853264	1107	R>K		No	ClinGen ExAC TOPMed
rs780202804 CA1315408	1107	R>S		No	ClinGen ExAC TOPMed gnomAD
CA1315407 rs769853264	1107	R>T		No	ClinGen ExAC TOPMed
CA1315405 rs762735325	1107	R>TI*		No	ClinGen ExAC gnomAD
rs749257364 CA1315426	1112	K>R		No	ClinGen ExAC TOPMed gnomAD
CA35917131 rs749257364	1112	K>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1113	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1315427 rs755012251	1115	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs748041124 CA1315429	1117	V>L		No	ClinGen ExAC TOPMed gnomAD
CA1315430 rs771609153	1118	Y>C		No	ClinGen ExAC gnomAD
CA344054569 rs1190604034	1121	Q>K		No	ClinGen gnomAD
CA1315431 rs772930520	1123	T>A		No	ClinGen ExAC gnomAD
rs1455290898 CA344054612	1125	W>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs112867533 CA35917173	1126	S>G		No	ClinGen ExAC
rs112867533 CA1315433	1126	S>R		No	ClinGen ExAC
rs777075968 CA1315434	1127	V>M		No	ClinGen ExAC TOPMed gnomAD
CA1315435 rs760015972	1128	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA1315436 rs765815787	1128	E>V		No	ClinGen ExAC TOPMed gnomAD
rs267598281 CA35917202	1136	E>K		No	ClinGen TOPMed
TCGA novel	1137	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs549131091 CA1315441	1139	S>F		No	ClinGen 1000Genomes ExAC gnomAD
CA344054770 CA1315443 rs754959338	1140	M>I		No	ClinGen ExAC gnomAD
CA344054761 rs750569053	1140	M>L		No	ClinGen ExAC TOPMed gnomAD
rs1571896594 CA344054766	1140	M>T		No	ClinGen Ensembl
CA1315442 rs750569053	1140	M>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1141	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA35917258 rs982132187	1141	I>V		No	ClinGen Ensembl
rs758217317 CA1315446	1143	V>D		No	ClinGen ExAC gnomAD
rs747839384 CA1315445	1143	V>I		No	ClinGen ExAC
rs1481644951 CA344054815	1145	K>R		No	ClinGen TOPMed
rs1198163582 CA344054843	1147	K>N		No	ClinGen gnomAD
rs770621168 CA1315449	1149	P>A		No	ClinGen ExAC TOPMed gnomAD
CA1315450 rs776090857	1150	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1310666546 CA344054878	1151	K>E		No	ClinGen TOPMed
TCGA novel	1151	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs724159907 CA35917301	1153	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs745452331 CA1315451	1154	S>C		No	ClinGen ExAC TOPMed gnomAD
rs745452331 CA344054912	1154	S>F		No	ClinGen ExAC TOPMed gnomAD
CA344054922 rs1558041011 RCV000757708	1155	E>D		No	ClinGen ClinVar Ensembl dbSNP
CA344054930 rs1363534312	1156	G>E		No	ClinGen TOPMed gnomAD
CA344054932 rs1363534312	1156	G>V		No	ClinGen TOPMed gnomAD
CA344054940 rs1451444401	1157	N>S		No	ClinGen gnomAD
rs770192374 CA344054958	1158	K>N		No	ClinGen ExAC gnomAD
CA35917354 rs959940059	1159	H>Y		No	ClinGen gnomAD
rs1424267368 CA344054979	1160	H>Q		No	ClinGen gnomAD
CA344054988 rs1248549146	1161	K>R		No	ClinGen gnomAD
CA1315453 rs372398436	1163	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA35917370 rs946442343	1164	P>R		No	ClinGen Ensembl
CA344055024 rs1392012289	1165	L>P		No	ClinGen gnomAD
rs930970451 CA35917376	1166	L>F		No	ClinGen TOPMed
CA344055045 rs1306960153	1167	I>T		No	ClinGen gnomAD
CA344055054 rs1334500406	1168	H>L		No	ClinGen gnomAD
rs1248695438 CA344055059	1169	C>G		No	ClinGen gnomAD
rs1316182243 CA344055063	1169	C>S		No	ClinGen gnomAD
rs1421608327	1170	R>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs199826421 CA1315478	1171	D>A		No	ClinGen ExAC TOPMed gnomAD
CA1315479 rs762337291	1171	D>E		No	ClinGen ExAC gnomAD
CA1315481 rs773582172	1176	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA344055265 rs1363009741	1178	I>V		No	ClinGen gnomAD
CA344055290 rs191520732	1179	F>L		No	ClinGen 1000Genomes ExAC gnomAD
rs554535702 CA35918643	1182	L>V		No	ClinGen Ensembl
rs753903902 CA1315483	1183	L>*		No	ClinGen ExAC gnomAD
rs1215167272 CA344055619	1184	N>H		No	ClinGen Ensembl
rs1243668309 CA344055642	1187	E>G		No	ClinGen TOPMed gnomAD
rs751348881 CA1315486	1187	E>Q		No	ClinGen ExAC gnomAD
CA344055657 rs767698294	1189	A>E		No	ClinGen ExAC TOPMed gnomAD
rs767698294 CA1315488	1189	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA35918691 rs938607366	1190	E>A		No	ClinGen Ensembl
CA1315491 rs115935364	1190	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs769204527 CA1315493	1194	V>A		No	ClinGen ExAC gnomAD
CA344055688 rs1413272292	1194	V>L		No	ClinGen gnomAD
CA344055701 rs1325619408	1196	D>G		No	ClinGen TOPMed
CA344055738 rs1412149187	1201	V>A		No	ClinGen gnomAD
CA1315495 rs141995021	1204	L>V		No	ClinGen ESP ExAC gnomAD
rs377490765 CA1315496	1205	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA1315497 rs773528653	1205	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA344055760 rs773528653	1205	R>L		No	ClinGen ExAC TOPMed gnomAD
CA344055774 rs1156522719	1207	A>D		No	ClinGen TOPMed gnomAD
CA1315498 rs760919067	1210	G>R		No	ClinGen ExAC TOPMed gnomAD
rs776756536 CA1315500	1211	M>L		No	ClinGen ExAC gnomAD
rs1471213861 CA344055796	1211	M>T		No	ClinGen TOPMed
rs1317341495 CA344055802	1212	V>F		No	ClinGen gnomAD
rs1426522308 CA344055806	1212	V>G		No	ClinGen TOPMed
rs1558042118	1215	F>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs759598627 CA1315501	1215	F>L		No	ClinGen ExAC gnomAD
CA344055842 rs1445599939	1216	E>A		No	ClinGen gnomAD
TCGA novel	1217	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773057370 CA1315529	1218	Y>C		No	ClinGen ExAC gnomAD
rs760393591 CA1315530	1219	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA344055892 rs1445993458	1223	D>H		No	ClinGen gnomAD
CA344055891 rs1445993458	1223	D>N		No	ClinGen gnomAD
CA1315537 rs778207793	1225	I>T		No	ClinGen ExAC gnomAD
CA1315536 rs758958726	1225	I>V		No	ClinGen ExAC gnomAD
TCGA novel	1226	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1216486272 CA344055919	1227	S>N		No	ClinGen gnomAD
CA35920620 rs899511250	1230	P>S		No	ClinGen TOPMed
TCGA novel	1231	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA344055945 rs1197361177	1231	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs933679741 CA35920622	1234	G>A		No	ClinGen TOPMed
CA1315540 rs781422394	1235	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA1315542 rs746116164	1236	V>I		No	ClinGen ExAC gnomAD
CA1315541 rs746116164	1236	V>L		No	ClinGen ExAC gnomAD
rs749440246 CA1315544	1238	K>Q		No	ClinGen ExAC gnomAD
rs1471609282 CA344055988	1238	K>T		No	ClinGen gnomAD
rs1419641844 CA344056001	1240	N>H		No	ClinGen gnomAD
TCGA novel	1241	H>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA344056011 rs1385316390	1241	H>R		No	ClinGen TOPMed
CA1315548 rs760470495	1245	K>T		No	ClinGen ExAC gnomAD
TCGA novel	1246	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770664477 CA1315549	1246	I>T		No	ClinGen ExAC TOPMed gnomAD
CA35920679 rs887066233	1247	E>K		No	ClinGen Ensembl
CA1315550 rs374678525	1249	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA344056068 rs374678525	1249	D>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1252371912 CA344056079	1250	N>S		No	ClinGen gnomAD
rs765039278 CA1315552	1252	V>A		No	ClinGen ExAC TOPMed gnomAD
CA344056091 rs1317421071	1252	V>M		No	ClinGen gnomAD
rs752249753 CA1315553	1253	D>N		No	ClinGen ExAC gnomAD
rs1324904119 CA344056100	1253	D>V		No	ClinGen gnomAD
rs764602035 CA1315555	1257	Q>P		No	ClinGen ExAC gnomAD
rs757598062 CA344056133	1258	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs61757806 CA35920732	1259	A>G		No	ClinGen TOPMed
rs756327552 CA1315560	1263	N>K		No	ClinGen ExAC gnomAD
rs1190861672 CA344056169	1263	N>T		No	ClinGen gnomAD
TCGA novel	1265	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1558043475 CA344056189	1266	G>A		No	ClinGen Ensembl
CA344056188 rs1558043475	1266	G>D		No	ClinGen Ensembl
TCGA novel	1269	E>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1315561 rs148487071	1270	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA1315562 rs749310003	1270	K>N		No	ClinGen ExAC TOPMed gnomAD
CA35920784 rs969670354	1272	P>R		No	ClinGen TOPMed gnomAD
CA344056223 rs1558043497	1272	P>T		No	ClinGen Ensembl
rs1319307238 CA344056248	1275	K>N		No	ClinGen gnomAD
CA344056251 rs1340111706	1276	E>Q		No	ClinGen gnomAD
rs1571900066 CA344056258	1277	Q>K		No	ClinGen Ensembl
rs201641820 CA1315565	1278	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1200525905 CA344056270	1278	A>V		No	ClinGen TOPMed
CA1315567 rs776554037	1280	G>D		No	ClinGen ExAC gnomAD
CA344056283 rs776554037	1280	G>V		No	ClinGen ExAC gnomAD
TCGA novel	1283	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA344056299 rs1286358110	1283	P>S		No	ClinGen gnomAD
rs762501047 CA344056306	1284	T>R		No	ClinGen ExAC TOPMed gnomAD
rs2298872 CA344056308	1285	S>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA35920832 rs968068509	1290	P>S		No	ClinGen Ensembl
CA344056352 rs1351601014	1291	E>D		No	ClinGen gnomAD
rs1375858966 CA344056354	1292	H>D		No	ClinGen gnomAD
rs754595812 CA1315574	1295	N>S		No	ClinGen ExAC gnomAD
rs754595812 CA35920841	1295	N>T		No	ClinGen ExAC gnomAD
CA1315577 rs559731288	1296	G>C		No	ClinGen 1000Genomes ExAC gnomAD
CA1315576 rs559731288	1296	G>R		No	ClinGen 1000Genomes ExAC gnomAD
rs559731288 CA344056379	1296	G>S		No	ClinGen 1000Genomes ExAC gnomAD
CA344056382 rs1375227722	1296	G>V		No	ClinGen TOPMed
CA1315578 rs780201643	1297	P>L		No	ClinGen ExAC gnomAD
CA35920877 rs867215071	1298	A>T		No	ClinGen gnomAD
CA344056397 rs977524211	1299	S>I		No	ClinGen TOPMed gnomAD
TCGA novel	1299	S>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA35920880 rs977524211	1299	S>N		No	ClinGen TOPMed gnomAD
rs754092059 CA1315579	1299	S>R		No	ClinGen ExAC gnomAD
rs1338033198 CA344056405	1301	A>T		No	ClinGen gnomAD
rs1571900219 CA344056410	1301	A>V		No	ClinGen Ensembl
CA1315580 rs530292306	1304	Q>E		No	ClinGen 1000Genomes ExAC gnomAD
CA344056432 rs1396534448	1304	Q>H		No	ClinGen TOPMed
CA344056436 rs148331492	1305	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs781277251 CA1315584	1306	S>T		No	ClinGen ExAC gnomAD
CA344056443 rs1293460023	1307	S>Q		No	ClinGen TOPMed gnomAD

2 associated diseases with P08575

[MIM: 608971]: Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-positive (T(-)B(+)NK(+) SCID)

A form of severe combined immunodeficiency (SCID), a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients present in infancy recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development. {ECO:0000269|PubMed:11145714}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 126200]: Multiple sclerosis (MS)

A multifactorial, inflammatory, demyelinating disease of the central nervous system. Sclerotic lesions are characterized by perivascular infiltration of monocytes and lymphocytes and appear as indurated areas in pathologic specimens (sclerosis in plaques). The pathological mechanism is regarded as an autoimmune attack of the myelin sheath, mediated by both cellular and humoral immunity. Clinical manifestations include visual loss, extra-ocular movement disorders, paresthesias, loss of sensation, weakness, dysarthria, spasticity, ataxia and bladder dysfunction. Genetic and environmental factors influence susceptibility to the disease. {ECO:0000269|PubMed:11101853}. Note=Disease susceptibility may be associated with variants affecting the gene represented in this entry.

Without disease ID

A form of severe combined immunodeficiency (SCID), a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients present in infancy recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development. {ECO:0000269|PubMed:11145714}. Note=The disease is caused by variants affecting the gene represented in this entry.
A multifactorial, inflammatory, demyelinating disease of the central nervous system. Sclerotic lesions are characterized by perivascular infiltration of monocytes and lymphocytes and appear as indurated areas in pathologic specimens (sclerosis in plaques). The pathological mechanism is regarded as an autoimmune attack of the myelin sheath, mediated by both cellular and humoral immunity. Clinical manifestations include visual loss, extra-ocular movement disorders, paresthesias, loss of sensation, weakness, dysarthria, spasticity, ataxia and bladder dysfunction. Genetic and environmental factors influence susceptibility to the disease. {ECO:0000269|PubMed:11101853}. Note=Disease susceptibility may be associated with variants affecting the gene represented in this entry.

10 regional properties for P08575

Type	Name	Position	InterPro Accession
domain	Tyrosine-specific protein phosphatase, PTPase domain	652 - 914	IPR000242-1
domain	Tyrosine-specific protein phosphatase, PTPase domain	943 - 1230	IPR000242-2
domain	Tyrosine-specific protein phosphatases domain	832 - 903	IPR000387-1
domain	Tyrosine-specific protein phosphatases domain	1135 - 1219	IPR000387-2
domain	Protein-tyrosine phosphatase, catalytic	810 - 911	IPR003595-1
domain	Protein-tyrosine phosphatase, catalytic	1116 - 1227	IPR003595-2
domain	Fibronectin type III	391 - 483	IPR003961-1
domain	Fibronectin type III	484 - 576	IPR003961-2
active_site	Protein-tyrosine phosphatase, active site	851 - 861	IPR016130
domain	Protein tyrosine phosphatase, receptor type, N-terminal	7 - 32	IPR024739

Functions

		Description
EC Number	3.1.3.48	Phosphoric monoester hydrolases
Subcellular Localization	Cell membrane ; Single-pass type I membrane protein Membrane raft Synapse	Colocalized with DPP4 in membrane rafts
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

13 GO annotations of cellular component

Name	Definition
bleb	A cell extension caused by localized decoupling of the cytoskeleton from the plasma membrane and characterized by rapid formation, rounded shape, and scarcity of organelles within the protrusion. Blebs are formed during apoptosis and other cellular processes, including cell locomotion, cell division, and as a result of physical or chemical stresses. [GOC:mtg_apoptosis, PMID:12083798, PMID:16624291, Wikipedia:Bleb_(cell_biology)]
cell surface	The external part of the cell wall and/or plasma membrane.
cytoplasmic side of plasma membrane	The leaflet the plasma membrane that faces the cytoplasm and any proteins embedded or anchored in it or attached to its surface.
external side of plasma membrane	The leaflet of the plasma membrane that faces away from the cytoplasm and any proteins embedded or anchored in it or attached to its surface.
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
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.
integral component of plasma membrane	The component of the plasma 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.
membrane microdomain	A membrane region with a lipid composition that is distinct from that of the membrane regions that surround it.
membrane raft	Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
secretory granule membrane	The lipid bilayer surrounding a secretory granule.

8 GO annotations of molecular function

Name	Definition
ankyrin binding	Binding to ankyrin, a 200 kDa cytoskeletal protein that attaches other cytoskeletal proteins to integral membrane proteins.
heparan sulfate proteoglycan binding	Binding to a heparan sulfate proteoglycan, any proteoglycan containing heparan sulfate as the glycosaminoglycan carbohydrate unit.
heparin binding	Binding to heparin, a member of a group of glycosaminoglycans found mainly as an intracellular component of mast cells and which consist predominantly of alternating alpha-(1->4)-linked D-galactose and N-acetyl-D-glucosamine-6-sulfate residues.
protein kinase binding	Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate.
protein tyrosine phosphatase activity	Catalysis of the reaction: protein tyrosine phosphate + H2O = protein tyrosine + phosphate.
signaling receptor binding	Binding to one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function.
spectrin binding	Binding to spectrin, a protein that is the major constituent of the erythrocyte cytoskeletal network. It associates with band 4.1 (see band protein) and actin to form the cytoskeletal superstructure of the erythrocyte plasma membrane. It is composed of nonhomologous chains, alpha and beta, which aggregate side-to-side in an antiparallel fashion to form dimers, tetramers, and higher polymers.
transmembrane receptor protein tyrosine phosphatase activity	Combining with a signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity by catalysis of the reaction: protein tyrosine phosphate + H2O = protein tyrosine + phosphate.

67 GO annotations of biological process

Name	Definition
alpha-beta T cell proliferation	The expansion of an alpha-beta T cell population by cell division.
B cell differentiation	The process in which a precursor cell type acquires the specialized features of a B cell. A B cell is a lymphocyte of B lineage with the phenotype CD19-positive and capable of B cell mediated immunity.
B cell proliferation	The expansion of a B cell population by cell division. Follows B cell activation.
B cell receptor signaling pathway	The series of molecular signals initiated by the cross-linking of an antigen receptor on a B cell.
bone marrow development	The process whose specific outcome is the progression of the bone marrow over time, from its formation to the mature structure.
calcium-mediated signaling using intracellular calcium source	The series of molecular signals in which a cell uses calcium ions released from an intracellular store to convert a signal into a response.
cell cycle phase transition	The cell cycle process by which a cell commits to entering the next cell cycle phase.
cell surface receptor signaling pathway	The series of molecular signals initiated by activation of a receptor on the surface of a cell. The pathway begins with binding of an extracellular ligand to a cell surface receptor, or for receptors that signal in the absence of a ligand, by ligand-withdrawal or the activity of a constitutively active receptor. The pathway ends with regulation of a downstream cellular process, e.g. transcription.
cellular response to extracellular stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an extracellular stimulus.
defense response to virus	Reactions triggered in response to the presence of a virus that act to protect the cell or organism.
dephosphorylation	The process of removing one or more phosphoric (ester or anhydride) residues from a molecule.
DN2 thymocyte differentiation	The process in which a relatively unspecialized cell acquires the specialized features of a DN2 thymocyte. A DN2 thymocyte is a CD4-,CD8- thymocyte that is also CD44+,CD25-.
extrinsic apoptotic signaling pathway	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 either a ligand binding to a cell surface receptor, or a ligand being withdrawn from a cell surface receptor (e.g. in the case of signaling by dependence receptors), and ends when the execution phase of apoptosis is triggered.
gamma-delta T cell differentiation	The process in which a relatively unspecialized hemopoietic cell acquires specialized features of a gamma-delta T cell. A gamma-delta T cell is a T cell that expresses a gamma-delta T cell receptor complex.
hematopoietic progenitor cell differentiation	The process in which precursor cell type acquires the specialized features of a hematopoietic progenitor cell, a class of cell types including myeloid progenitor cells and lymphoid progenitor cells.
heterotypic cell-cell adhesion	The attachment of a cell to a cell of a different type via adhesion molecules.
leukocyte cell-cell adhesion	The attachment of a leukocyte to another cell via adhesion molecules.
MAPK cascade	An intracellular protein kinase cascade containing at least a MAPK, a MAPKK and a MAP3K. The cascade can also contain an additional tiers: the upstream MAP4K. The kinases in each tier phosphorylate and activate the kinase in the downstream tier to transmit a signal within a cell.
natural killer cell differentiation	The process in which a relatively unspecialized cell acquires the specialized features of a natural killer cell.
negative regulation of cell adhesion involved in substrate-bound cell migration	The disassembly of adhesions at the front and rear of a migrating cell. At the leading edge, adhesion disassembly accompanies the formation of new protrusions; at the cell rear, it promotes tail retraction.
negative regulation of cytokine-mediated signaling pathway	Any process that stops, prevents, or reduces the frequency, rate or extent of the cytokine mediated signaling pathway.
negative regulation of ERK1 and ERK2 cascade	Any process that stops, prevents, or reduces the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade.
negative regulation of interleukin-2 production	Any process that stops, prevents, or reduces the frequency, rate, or extent of interleukin-2 production.
negative regulation of microglial cell activation	Any process that stops, prevents or reduces the frequency, rate or extent of microglial cell activation.
negative regulation of protein autophosphorylation	Any process that stops, prevents or decreases the rate of the phosphorylation by a protein of one or more of its own residues.
negative regulation of protein kinase activity	Any process that stops, prevents, or reduces the frequency, rate or extent of protein kinase activity.
negative regulation of protein tyrosine kinase activity	Any process that decreases the rate, frequency, or extent of protein tyrosine kinase activity.
negative regulation of T cell mediated cytotoxicity	Any process that stops, prevents, or reduces the rate of T cell mediated cytotoxicity.
negative thymic T cell selection	The process of elimination of immature T cells in the thymus which react strongly with self-antigens.
peptidyl-tyrosine phosphorylation	The phosphorylation of peptidyl-tyrosine to form peptidyl-O4'-phospho-L-tyrosine.
plasma membrane raft distribution	The process that establishes the spatial arrangement of membrane rafts within a plasma membrane.
positive regulation of alpha-beta T cell proliferation	Any process that activates or increases the frequency, rate or extent of alpha-beta T cell proliferation.
positive regulation of antigen receptor-mediated signaling pathway	Any process that activates or increases the frequency, rate or extent of signaling pathways initiated by the cross-linking of an antigen receptor on a B- or T cell.
positive regulation of B cell proliferation	Any process that activates or increases the rate or extent of B cell proliferation.
positive regulation of ERK1 and ERK2 cascade	Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade.
positive regulation of extrinsic apoptotic signaling pathway	Any process that activates or increases the frequency, rate or extent of extrinsic apoptotic signaling pathway.
positive regulation of Fc-gamma receptor signaling pathway involved in phagocytosis	Any process that activates or increases the frequency, rate or extent of Fc-gamma receptor signaling pathway involved in phagocytosis.
positive regulation of gamma-delta T cell differentiation	Any process that activates or increases the frequency, rate or extent of gamma-delta T cell differentiation.
positive regulation of hematopoietic stem cell migration	Any process that activates or increases the frequency, rate or extent of hematopoietic stem cell migration.
positive regulation of humoral immune response mediated by circulating immunoglobulin	Any process that activates or increases the frequency, rate, or extent of a humoral immune response mediated by circulating immunoglobulin.
positive regulation of immunoglobulin production	Any process that activates or increases the frequency, rate, or extent of immunoglobulin production.
positive regulation of interleukin-2 production	Any process that activates or increases the frequency, rate, or extent of interleukin-2 production.
positive regulation of isotype switching to IgG isotypes	Any process that activates or increases the frequency, rate or extent of isotype switching to IgG isotypes.
positive regulation of MAP kinase activity	Any process that activates or increases the frequency, rate or extent of MAP kinase activity.
positive regulation of MAPK cascade	Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the MAPK cascade.
positive regulation of peptidyl-tyrosine phosphorylation	Any process that activates or increases the frequency, rate or extent of the phosphorylation of peptidyl-tyrosine.
positive regulation of protein kinase activity	Any process that activates or increases the frequency, rate or extent of protein kinase activity.
positive regulation of protein tyrosine phosphatase activity	Any process that activates or increases the frequency, rate or extent of protein tyrosine phosphatase activity.
positive regulation of stem cell proliferation	Any process that activates or increases the frequency, rate or extent of stem cell proliferation.
positive regulation of T cell mediated cytotoxicity	Any process that activates or increases the frequency, rate or extent of T cell mediated cytotoxicity.
positive regulation of T cell proliferation	Any process that activates or increases the rate or extent of T cell proliferation.
positive regulation of tumor necrosis factor production	Any process that activates or increases the frequency, rate or extent of tumor necrosis factor production.
positive thymic T cell selection	The process of sparing immature T cells in the thymus which react with self-MHC protein complexes with low affinity levels from apoptotic death.
protein autophosphorylation	The phosphorylation by a protein of one or more of its own amino acid residues (cis-autophosphorylation), or residues on an identical protein (trans-autophosphorylation).
protein dephosphorylation	The process of removing one or more phosphoric residues from a protein.
regulation of cell cycle	Any process that modulates the rate or extent of progression through the cell cycle.
regulation of gene expression	Any process that modulates 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).
regulation of interleukin-8 production	Any process that modulates the frequency, rate, or extent of interleukin-8 production.
regulation of phagocytosis	Any process that modulates the frequency, rate or extent of phagocytosis, the process in which phagocytes engulf external particulate material.
regulation of protein tyrosine kinase activity	Any process that modulates the rate, frequency, or extent of protein tyrosine kinase activity.
regulation of receptor signaling pathway via JAK-STAT	Any process that modulates the frequency, rate or extent of receptor signaling via JAK-STAT.
release of sequestered calcium ion into cytosol	The process in which calcium ions sequestered in the endoplasmic reticulum, Golgi apparatus or mitochondria are released into the cytosolic compartment.
response to gamma radiation	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a gamma radiation stimulus. Gamma radiation is a form of electromagnetic radiation (EMR) or light emission of a specific frequency produced from sub-atomic particle interaction, such as electron-positron annihilation and radioactive decay. Gamma rays are generally characterized as EMR having the highest frequency and energy, and also the shortest wavelength, within the electromagnetic radiation spectrum.
stem cell development	The process whose specific outcome is the progression of the stem cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to its specific fate.
T cell activation	The change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific.
T cell differentiation	The process in which a precursor cell type acquires characteristics of a more mature T-cell. A T cell is a type of lymphocyte whose definin characteristic is the expression of a T cell receptor complex.
T cell receptor signaling pathway	The series of molecular signals initiated by the cross-linking of an antigen receptor on a T cell.

10 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P25044	PTP1	Tyrosine-protein phosphatase 1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
P43378	PTPN9	Tyrosine-protein phosphatase non-receptor type 9	Homo sapiens (Human)	PR
P28827	PTPRM	Receptor-type tyrosine-protein phosphatase mu	Homo sapiens (Human)	PR
Q15262	PTPRK	Receptor-type tyrosine-protein phosphatase kappa	Homo sapiens (Human)	PR
P10586	PTPRF	Receptor-type tyrosine-protein phosphatase F	Homo sapiens (Human)	PR
P23468	PTPRD	Receptor-type tyrosine-protein phosphatase delta	Homo sapiens (Human)	PR
Q13332	PTPRS	Receptor-type tyrosine-protein phosphatase S	Homo sapiens (Human)	PR
Q64487	Ptprd	Receptor-type tyrosine-protein phosphatase delta	Mus musculus (Mouse)	PR
P35822	Ptprk	Receptor-type tyrosine-protein phosphatase kappa	Mus musculus (Mouse)	PR
P49446	Ptpre	Receptor-type tyrosine-protein phosphatase epsilon	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MTMYLWLKLL	AFGFAFLDTE	VFVTGQSPTP	SPTGLTTAKM	PSVPLSSDPL	PTHTTAFSPA
70	80	90	100	110	120
STFERENDFS	ETTTSLSPDN	TSTQVSPDSL	DNASAFNTTG	VSSVQTPHLP	THADSQTPSA
130	140	150	160	170	180
GTDTQTFSGS	AANAKLNPTP	GSNAISDVPG	ERSTASTFPT	DPVSPLTTTL	SLAHHSSAAL
190	200	210	220	230	240
PARTSNTTIT	ANTSDAYLNA	SETTTLSPSG	SAVISTTTIA	TTPSKPTCDE	KYANITVDYL
250	260	270	280	290	300
YNKETKLFTA	KLNVNENVEC	GNNTCTNNEV	HNLTECKNAS	VSISHNSCTA	PDKTLILDVP
310	320	330	340	350	360
PGVEKFQLHD	CTQVEKADTT	ICLKWKNIET	FTCDTQNITY	RFQCGNMIFD	NKEIKLENLE
370	380	390	400	410	420
PEHEYKCDSE	ILYNNHKFTN	ASKIIKTDFG	SPGEPQIIFC	RSEAAHQGVI	TWNPPQRSFH
430	440	450	460	470	480
NFTLCYIKET	EKDCLNLDKN	LIKYDLQNLK	PYTKYVLSLH	AYIIAKVQRN	GSAAMCHFTT
490	500	510	520	530	540
KSAPPSQVWN	MTVSMTSDNS	MHVKCRPPRD	RNGPHERYHL	EVEAGNTLVR	NESHKNCDFR
550	560	570	580	590	600
VKDLQYSTDY	TFKAYFHNGD	YPGEPFILHH	STSYNSKALI	AFLAFLIIVT	SIALLVVLYK
610	620	630	640	650	660
IYDLHKKRSC	NLDEQQELVE	RDDEKQLMNV	EPIHADILLE	TYKRKIADEG	RLFLAEFQSI
670	680	690	700	710	720
PRVFSKFPIK	EARKPFNQNK	NRYVDILPYD	YNRVELSEIN	GDAGSNYINA	SYIDGFKEPR
730	740	750	760	770	780
KYIAAQGPRD	ETVDDFWRMI	WEQKATVIVM	VTRCEEGNRN	KCAEYWPSME	EGTRAFGDVV
790	800	810	820	830	840
VKINQHKRCP	DYIIQKLNIV	NKKEKATGRE	VTHIQFTSWP	DHGVPEDPHL	LLKLRRRVNA
850	860	870	880	890	900
FSNFFSGPIV	VHCSAGVGRT	GTYIGIDAML	EGLEAENKVD	VYGYVVKLRR	QRCLMVQVEA
910	920	930	940	950	960
QYILIHQALV	EYNQFGETEV	NLSELHPYLH	NMKKRDPPSE	PSPLEAEFQR	LPSYRSWRTQ
970	980	990	1000	1010	1020
HIGNQEENKS	KNRNSNVIPY	DYNRVPLKHE	LEMSKESEHD	SDESSDDDSD	SEEPSKYINA
1030	1040	1050	1060	1070	1080
SFIMSYWKPE	VMIAAQGPLK	ETIGDFWQMI	FQRKVKVIVM	LTELKHGDQE	ICAQYWGEGK
1090	1100	1110	1120	1130	1140
QTYGDIEVDL	KDTDKSSTYT	LRVFELRHSK	RKDSRTVYQY	QYTNWSVEQL	PAEPKELISM
1150	1160	1170	1180	1190	1200
IQVVKQKLPQ	KNSSEGNKHH	KSTPLLIHCR	DGSQQTGIFC	ALLNLLESAE	TEEVVDIFQV
1210	1220	1230	1240	1250	1260
VKALRKARPG	MVSTFEQYQF	LYDVIASTYP	AQNGQVKKNN	HQEDKIEFDN	EVDKVKQDAN
1270	1280	1290	1300
CVNPLGAPEK	LPEAKEQAEG	SEPTSGTEGP	EHSVNGPASP	ALNQGS