AiPD: Autoinhibited Protein Database

Q92608

Gene name	DOCK2 (KIAA0209)
Protein name	Dedicator of cytokinesis protein 2
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:1794
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

169-241 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

169-241 (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

7 structures for Q92608

Entry ID	Method	Resolution	Chain	Position	Source
2RQR	NMR	-	A	8-70	PDB
2YIN	X-ray	270 A	A/B	1192-1622	PDB
3A98	X-ray	210 A	A/C	1-177	PDB
3B13	X-ray	301 A	A/C	1196-1622	PDB
6TGB	EM	550 A	A/D	1-1830	PDB
6TGC	EM	410 A	A/D	1-1830	PDB
AF-Q92608-F1	Predicted				AlphaFoldDB

1183 variants for Q92608

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV001348551 CA3553026 rs376950305	23	G>R	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA3553027 RCV001215709 rs776586113	24	A>P	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP
CA500027 RCV001796174 RCV000653083 rs141894939	30	Q>H	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1757982685 RCV001203038	35	V>L	DOCK2 deficiency [ClinVar]	Yes	ClinVar dbSNP
rs200852440 RCV000538480 CA3553068	50	I>L	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001306879 rs1375534866 CA362102211	72	E>V	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA3553105 RCV000939360 rs368156237	74	R>K	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs980502492 RCV001053643 CA131998867	79	N>S	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1759028698 RCV001227764	80	I>S	DOCK2 deficiency [ClinVar]	Yes	ClinVar dbSNP
CA3553124 rs138714263 RCV001325697	93	T>M	DOCK2 deficiency Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV000788232 RCV002533621 RCV000701438 CA3553129 rs370949354	96	W>R	DOCK2 deficiency Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs919112822 RCV001201590 CA131998922	101	I>L	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000653070 CA3553150 rs750421267	113	R>H	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA3553153 RCV000820377 rs752809346	120	M>I	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001224591 rs1759212656	139	D>V	DOCK2 deficiency [ClinVar]	Yes	ClinVar dbSNP
RCV001057007 rs1759685201	178	T>I	DOCK2 deficiency [ClinVar]	Yes	ClinVar dbSNP
CA362103352 RCV000540716 rs1234078639	189	E>G	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
CA3553216 RCV001070158 rs751888622	205	D>E	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000653076 CA3553218 rs151191554	211	M>V	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA3553219 RCV000967722 rs150969388	214	R>W	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001216878 rs771842589 CA3553226 CA362103614	227	V>L	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000553210 rs78243868 CA3553235	251	T>M	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001039673 rs369315365 CA3553293	283	L>F	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar ESP ExAC dbSNP gnomAD
rs1250790966 CA362104648 RCV001071790	289	N>S	DOCK2 deficiency Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar NCI-TCGA TOPMed dbSNP
RCV001225028 rs1760590564	312	A>K	DOCK2 deficiency [ClinVar]	Yes	ClinVar dbSNP
rs1673260878 RCV001061182	322	P>H	DOCK2 deficiency [ClinVar]	Yes	ClinVar dbSNP
RCV001228443 rs368378335 CA3553338	341	D>E	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1581055881 RCV000812547 CA362105459	353	V>L	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1760824678 RCV001304478	359	F>L	DOCK2 deficiency [ClinVar]	Yes	ClinVar dbSNP
rs1760825005 RCV001062914	361	H>P	DOCK2 deficiency [ClinVar]	Yes	ClinVar dbSNP
CA362105722 rs1475669354 RCV001050182	390	I>T	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA3553399 rs761943047 RCV001064943	406	V>M	DOCK2 deficiency Variant assessed as Somatic; 0.0001388 impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA3553418 RCV000653075 rs370264550	430	L>V	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000921680 CA3553420 rs113673055	439	N>S	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA3553422 rs371303142 RCV000823042	445	N>S	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs759775916 RCV000653073 CA3553425	450	M>T	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000554568 CA3553428 rs114888195	454	A>T	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001345232 CA3553429 rs374175915	454	A>V	DOCK2 deficiency Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs372498181 RCV001204926 CA3553459	464	I>V	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA3553461 RCV001206398 rs200560235	466	V>M	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000526050 CA3553463 rs201626676	473	M>V	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001218159 rs776943921 CA3553465	476	Y>C	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA3553464 RCV000653067 rs769211157	476	Y>H	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001035285 CA3553466 rs563258542	477	R>C	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA3553496 rs371391395 RCV000801880	496	A>T	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA362106877 rs1169435264 RCV000795324	514	R>W	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000522816 rs149411090 RCV001085156 CA3553525	532	V>M	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV002537293 CA3553526 RCV000808663 RCV002252244 rs375363462	533	K>E	DOCK2 deficiency Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000923852 rs143942535 CA3553529	535	M>V	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000987630 rs1581078478 CA362107232	536	K>E	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA3553577 RCV001220540 rs151022836	580	A>T	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar ESP ExAC dbSNP gnomAD
CA3553579 RCV000788155 rs140817788 RCV000692130	581	T>M	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA362107854 RCV000806442 rs1466532077	585	S>R	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA362107863 rs1265967996 RCV000806254	586	S>P	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA3553587 rs748998563 RCV001037149	595	S>R	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001329335 rs1389121134 CA362108273	646	V>M	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs1761909712 RCV001307431	661	M>V	DOCK2 deficiency [ClinVar]	Yes	ClinVar dbSNP
CA3553638 rs368933125 RCV002553122 RCV001045455	662	E>D	DOCK2 deficiency Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1761910691 RCV001316788	663	H>R	DOCK2 deficiency [ClinVar]	Yes	ClinVar dbSNP
RCV001323615 rs1761910500	663	H>Y	DOCK2 deficiency [ClinVar]	Yes	ClinVar dbSNP
RCV001220472 CA3553660 rs747454436	681	I>T	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000702292 rs1400969417 CA362109067	684	I>N	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs1561633059 RCV000706989 CA362109592	725	S>R	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA362109762 RCV000180783 VAR_073859 rs1581090174	751	R>S	DOCK2 deficiency IMD40 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs1232157605 CA362196151 RCV001035852	772	R>Q	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001054966 CA362196214 rs1359715138	781	M>T	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs1764375441 RCV001341666	805	D>V	DOCK2 deficiency [ClinVar]	Yes	ClinVar dbSNP
RCV002553170 CA3553750 rs775851597 RCV001047732	812	A>V	DOCK2 deficiency Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1581153476 CA362197896 RCV000796851	827	P>S	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1764491389 RCV001067903	829	V>L	DOCK2 deficiency [ClinVar]	Yes	ClinVar dbSNP
RCV000795959 CA3553773 rs148384873	842	I>T	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001325206 rs773584607 CA362198171	849	K>E	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA3553797 rs752262388 RCV001294840	854	R>Q	DOCK2 deficiency Variant assessed as Somatic; 4.621e-05 impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD
CA3553801 rs141501849 RCV000653091	863	K>E	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA3553806 RCV002555813 rs150884555 RCV001062688	879	V>I	DOCK2 deficiency Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA3553807 RCV000653072 rs112062072	880	L>M	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV002252217 RCV000692242 rs199862297 CA3553810	886	V>I	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000653065 rs761742890 CA3553836	914	Q>H	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs200070944 RCV001329972 CA3553843	928	R>W	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1209214064 CA362202621 RCV001346999	930	H>R	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
CA3554011 RCV000653071 rs35395501	953	S>F	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001212832 rs188136128 CA3554013	956	I>T	DOCK2 deficiency Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA3554038 rs148694888 RCV000894757	980	I>T	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1410814229 RCV001240891 CA362101845	980	I>V	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001234004 rs1778057311	992	M>I	DOCK2 deficiency [ClinVar]	Yes	ClinVar dbSNP
RCV002563766 CA132008885 RCV001231806 rs368028175	1019	T>R	DOCK2 deficiency Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs145444170 CA3554112 RCV000688196	1047	F>C	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs529505036 CA3554115 RCV001051335	1050	A>T	DOCK2 deficiency Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD
RCV003166450 CA3554135 rs772417044 RCV001235321	1064	R>W	DOCK2 deficiency Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs1561883336 CA362104920 RCV000691961	1078	G>D	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1755628861 RCV001046109	1079	Q>P	DOCK2 deficiency [ClinVar]	Yes	ClinVar dbSNP
CA362105147 RCV001230200 rs1366577766	1098	I>T	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs149008494 CA3554173 RCV001221680	1104	R>Q	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA203827 RCV000180782 rs780318765 VAR_073860	1104	R>W	DOCK2 deficiency Variant assessed as Somatic; 0.0 impact. IMD40 [ClinVar, NCI-TCGA, UniProt]	Yes	ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV003163211 CA3554174 RCV000696985 rs557824061	1113	D>N	DOCK2 deficiency Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA348573 RCV000204327 rs864622013	1118	E>*	Malignant tumor of prostate [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA3554178 rs772725332 RCV001338719	1120	Q>E	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA132028423 rs984911844 RCV001315594	1120	Q>H	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000653066 CA3554182 rs200973349	1122	S>R	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA132035842 RCV001339320 rs903239645	1142	G>A	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1581543762 RCV000987631 CA362106949	1162	A>T	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1756249226 RCV001244271	1166	T>A	DOCK2 deficiency [ClinVar]	Yes	ClinVar dbSNP
rs1253821966 CA362106992 RCV001313911	1166	T>I	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs1581543832 CA362107201 RCV000821416	1183	E>K	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA3554249 rs777118797 RCV000818662	1190	G>S	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001316263 rs1756252692	1200	R>C	DOCK2 deficiency [ClinVar]	Yes	ClinVar dbSNP
RCV000788169 CA3554253 RCV001873215 rs373428643	1200	R>H	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001036774 rs1756328793	1211	Y>*	DOCK2 deficiency [ClinVar]	Yes	ClinVar dbSNP
CA3554303 RCV000707592 rs139600790	1228	R>H	DOCK2 deficiency Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001317477 rs781142067 CA3554307	1237	Y>C	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA3554330 rs768197840 RCV000823596	1265	T>I	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA3554335 rs145873210 RCV000653093	1279	T>M	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000702829 rs369071999 CA3554341	1285	I>T	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs146643993 CA3554372 RCV001213077	1309	E>K	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar ESP ExAC dbSNP gnomAD
RCV000180781 CA203825 rs762909359	1324	Q>*	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs766635884 CA3554401 RCV000653074	1329	Y>C	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1756758505 RCV001326628	1334	K>Q	DOCK2 deficiency [ClinVar]	Yes	ClinVar dbSNP
CA3554405 RCV000800195 rs752947346	1340	P>S	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs550928168 RCV000823942 CA3554410	1354	S>T	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
RCV001237360 CA3554437 rs769663046	1364	R>H	DOCK2 deficiency Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001350431 rs780312697 CA3554442	1370	R>Q	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs768935540 CA3554443 RCV001059968	1376	M>L	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA362110207 RCV001063175 rs1243038784	1379	M>L	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs938288633 CA132004957 RCV000802644	1383	P>S	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA3554444 RCV000687959 rs375716929	1384	N>S	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs765831486 RCV001329973	1388	M>K	DOCK2 deficiency [ClinVar]	Yes	ClinVar dbSNP
CA3554445 rs762466077 RCV000788354 RCV000819353	1388	M>L	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV002548476 RCV001351257 rs765831486 CA3554446	1388	M>T	DOCK2 deficiency Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000960521 CA3554455 rs143100569 RCV001702754	1401	A>S	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000703518 CA3554520 rs779110995	1454	D>A	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1554128971 RCV001042068	1460	A>S	DOCK2 deficiency [ClinVar]	Yes	ClinVar dbSNP
RCV000653068 CA362110776 rs1554128971	1460	A>T	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001068707 rs1757176924	1465	E>Q	DOCK2 deficiency [ClinVar]	Yes	ClinVar dbSNP
RCV001043423 CA3554545 rs143595882	1470	V>M	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000794497 rs750831425 CA3554555	1487	M>V	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA3554557 RCV001337436 rs149796867	1488	S>L	DOCK2 deficiency Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs755601163 RCV001036328 CA3554581	1506	N>S	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA3554584 rs148502872 RCV000653098	1511	M>I	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs775309020 RCV001320065 CA3554588	1521	T>I	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001047820 CA3554593 rs766582922	1536	D>E	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001214085 rs199902117 CA3554620	1564	D>N	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001237001 rs1331646797 CA362115162	1601	R>W	DOCK2 deficiency Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD
CA3554688 RCV001351374 rs540837805	1625	F>L	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001341141 rs368481515 CA3554691	1627	D>N	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs777933225 CA3554692 RCV001034796	1632	R>C	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs918082283 RCV001296805 CA132025941	1636	M>V	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001316242 rs771330901 CA3554694	1638	R>C	DOCK2 deficiency Variant assessed as Somatic; 0.0001859 impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001223359 CA3554695 rs529714012	1638	R>H	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000653095 rs113216049 CA3554704	1652	N>S	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001345777 CA132026106 rs752968198	1657	T>I	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs139644615 RCV000653089 CA3554712	1659	S>T	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs201322810 RCV000806380 CA3554746	1675	T>M	DOCK2 deficiency Variant assessed as Somatic; 4.621e-05 impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA3554748 RCV000967643 rs150108225	1676	P>R	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA3554751 RCV000653069 rs373168304	1680	Q>R	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000906830 CA3554752 rs184196863	1683	P>L	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA3554759 RCV001222924 rs373978300	1692	E>K	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1561911758 CA362116342 RCV000695029	1695	L>V	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs371229305 RCV001243327 CA3554761	1696	R>Q	DOCK2 deficiency Variant assessed as Somatic; 4.62e-05 impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV000808797 rs980056604 CA132027642	1696	R>W	DOCK2 deficiency Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD
rs200684209 RCV001042518 CA3554767	1710	A>E	DOCK2 deficiency Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV000788216 RCV000687037 CA3554766 rs200684209	1710	A>V	DOCK2 deficiency Variant assessed as Somatic; 0.0006012 impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001341102 rs760040908 CA3554772	1718	S>L	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs199698060 CA3554777 RCV000695607	1722	R>Q	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1561912393 RCV000692328	1741	I>missing	DOCK2 deficiency [ClinVar]	Yes	ClinVar dbSNP
RCV000685021 CA362118999 rs2270898 VAR_015822	1746	S>T	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001320272 rs141274816	1765	A>G	DOCK2 deficiency [ClinVar]	Yes	ClinVar dbSNP
RCV001050690 rs141274816 RCV002553231 CA3554846	1765	A>V	DOCK2 deficiency Inborn genetic diseases Variant assessed as Somatic; 4.654e-05 impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs1758045075 RCV001299200	1769	A>T	DOCK2 deficiency [ClinVar]	Yes	ClinVar dbSNP
rs748565547 CA3554852 RCV001210684	1773	G>W	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs58570833 CA3554853 RCV001041374	1775	D>G	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA3554856 RCV000528287 rs149343589	1782	R>C	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000810781 CA3554861 rs760479360	1790	L>F	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001342914 rs1408260675 CA362119248	1792	D>H	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs146061014 RCV002543165 CA3554864 RCV001306477	1793	G>S	DOCK2 deficiency Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs140044343 RCV001211653 CA3554866	1797	T>I	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001296507 CA3554868 rs143896166	1801	K>R	DOCK2 deficiency Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV000653099 rs146886839 CA3554873	1809	T>A	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001233218 rs371835495 CA3554890	1813	S>R	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000653092 CA3554894 RCV001726295 rs144315682	1816	A>S	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1223159645 CA362119992 RCV000816838	1821	Q>R	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV001308279 rs1758081318	1824	D>A	DOCK2 deficiency [ClinVar]	Yes	ClinVar dbSNP
CA3554909 rs202005409 RCV001207685	1828	T>M	DOCK2 deficiency [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
TCGA novel	3	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1581352915 CA362103036	3	P>L		No	ClinGen Ensembl
rs760518046 CA3553006	3	P>S		No	ClinGen ExAC gnomAD
rs1420327059 CA362103048	5	R>H		No	ClinGen gnomAD
rs750441223 CA3553008	5	R>S		No	ClinGen ExAC gnomAD
rs763088905 CA3553009	9	K>Q		No	ClinGen ExAC gnomAD
rs1383072441 CA362103077	9	K>T		No	ClinGen gnomAD
CA362103085 rs1384460445	10	E>V		No	ClinGen TOPMed
CA362103091 rs200033547	11	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3553010 rs200033547	11	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA362104410 rs1259821779	16	I>T		No	ClinGen TOPMed
rs1452503755 CA362104407	16	I>V		No	ClinGen gnomAD
rs775126575 CA3553024	21	G>D		No	ClinGen ExAC gnomAD
TCGA novel	23	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	25	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766504591 CA3553030	27	L>P		No	ClinGen ExAC gnomAD
CA132032176 rs370494583	31	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA362104513 rs1248510329	32	G>C		No	ClinGen gnomAD
CA362104528 rs1402891746	34	V>E		No	ClinGen TOPMed
CA362104526 rs1370410465	34	V>L		No	ClinGen gnomAD
TCGA novel	36	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3553034 rs756449193	36	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1164633970 CA362104551	38	Q>P		No	ClinGen gnomAD
rs764520982 CA3553035	40	T>M		No	ClinGen ExAC TOPMed gnomAD
rs756827620 CA3553037	41	C>R		No	ClinGen ExAC gnomAD
rs756827620 CA362104569	41	C>S		No	ClinGen ExAC gnomAD
rs987325718 CA132032229	41	C>Y		No	ClinGen TOPMed
CA362101996 rs1345736391	43	D>E		No	ClinGen gnomAD
rs1282604050 CA362101993	43	D>G		No	ClinGen TOPMed gnomAD
rs150182906 CA3553064	45	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA3553066 rs745945611 CA3553067	46	R>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	48	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3553069 rs200852440	50	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	53	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	58	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773777694 CA3553102	58	I>V		No	ClinGen ExAC gnomAD
TCGA novel	60	P>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs893044391 CA131998473	66	I>T		No	ClinGen TOPMed
CA362102167 rs1370121155	66	I>V		No	ClinGen gnomAD
rs765859368 CA3553104	72	E>D		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	72	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362102224 rs368156237	74	R>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA362102256 rs1203174226	77	T>A		No	ClinGen gnomAD
rs201979117 CA3553120	80	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA362102348 rs1254090637	91	V>M		No	ClinGen gnomAD
CA3553128 rs753697948	95	L>F		No	ClinGen ExAC TOPMed gnomAD
CA362102399 rs1355289201	98	W>C		No	ClinGen gnomAD
rs1561585356 CA362102393	98	W>R		No	ClinGen Ensembl
rs765234982 CA3553130	99	G>E		No	ClinGen ExAC TOPMed gnomAD
CA362102433 rs1272473127	103	K>R		No	ClinGen TOPMed gnomAD
rs1337997159 CA362102442	104	Q>L		No	ClinGen gnomAD
rs777105452 CA131998927	106	Y>H		No	ClinGen Ensembl
CA131998930 rs987966249	107	V>M		No	ClinGen gnomAD
CA362102502 rs1254809594	111	K>N		No	ClinGen gnomAD
CA132000521 rs878984678	111	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs776741593 CA132000522	112	E>G		No	ClinGen Ensembl
rs1455670567 CA362102513	113	R>C		No	ClinGen gnomAD
CA362102511 rs1455670567	113	R>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs893987798 CA132000523	117	V>L		No	ClinGen TOPMed gnomAD
rs893987798 CA362102538	117	V>M		No	ClinGen TOPMed gnomAD
CA362102545 rs1422475564	118	Q>*		No	ClinGen TOPMed
CA3553152 rs767627447	118	Q>R		No	ClinGen ExAC gnomAD
CA362102550 rs1400482773	119	S>T		No	ClinGen gnomAD
rs1026577454 CA132000538	121	M>I		No	ClinGen TOPMed
rs756125120 CA3553154	121	M>V		No	ClinGen ExAC gnomAD
rs749463827 CA3553156	123	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1335764278 CA362102583	123	D>V		No	ClinGen gnomAD
CA3553158 rs779123178	124	L>Q		No	ClinGen ExAC gnomAD
CA132000554 rs867401091	125	M>I		No	ClinGen Ensembl
TCGA novel	128	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362102627 rs1249272327	129	S>F		No	ClinGen TOPMed
CA3553159 rs78450053	130	Q>L		No	ClinGen ExAC gnomAD
rs78450053 CA132000558	130	Q>P		No	ClinGen ExAC gnomAD
rs1018090120 CA132000561	135	T>N		No	ClinGen TOPMed
rs1561588150 CA362102691	139	D>E		No	ClinGen Ensembl
TCGA novel	139	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3553162 rs746532024	140	E>V		No	ClinGen ExAC
TCGA novel	142	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	144	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362102732 rs1246809052	145	K>N		No	ClinGen gnomAD
CA362102735 rs1265818126	146	Q>*		No	ClinGen gnomAD
TCGA novel	151	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362102771 rs1184326815	151	K>R		No	ClinGen gnomAD
rs761361714 CA3553165	152	I>V		No	ClinGen ExAC gnomAD
rs769682916 CA3553166	153	D>H		No	ClinGen ExAC TOPMed gnomAD
CA3553169 rs371312059	157	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA3553188 rs770704966	160	E>K		No	ClinGen ExAC gnomAD
TCGA novel	161	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362103172 rs1396090750	164	I>V		No	ClinGen TOPMed
TCGA novel	172	I>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA132003773 rs200805864	174	D>H		No	ClinGen 1000Genomes
TCGA novel	175	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1042710024 CA132003779	176	D>E		No	ClinGen TOPMed
rs753893848 CA3553192	176	D>G		No	ClinGen ExAC gnomAD
CA132003785 rs999734391	179	S>N		No	ClinGen Ensembl
rs143962640 CA132003787	179	S>R		No	ClinGen ESP
CA362103309 rs1460881792	183	L>F		No	ClinGen gnomAD
rs1280646723 CA362103306	183	L>S		No	ClinGen Ensembl
CA362103319 rs1480696718	185	H>Y		No	ClinGen TOPMed
TCGA novel	187	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362103359 rs1561595156	190	A>E		No	ClinGen Ensembl
CA132003804 rs1031253068	192	D>G		No	ClinGen gnomAD
rs1202967632 CA362103368	192	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA3553196 rs147299638	194	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA3553197 rs780554962	195	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA3553198 rs752159034	197	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs552888694 CA3553199	197	R>H		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	198	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	199	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1003378093 CA132003826	202	M>V		No	ClinGen TOPMed gnomAD
CA362103474 rs766896264	205	D>A		No	ClinGen ExAC gnomAD
CA3553215 rs766896264	205	D>G		No	ClinGen ExAC gnomAD
rs755325682 CA3553217	208	D>E		No	ClinGen ExAC gnomAD
rs148418103 CA132005254	209	Y>N		No	ClinGen ESP TOPMed
TCGA novel	211	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1352731891 CA362103523	212	Y>C		No	ClinGen TOPMed
TCGA novel	212	Y>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs984797885 CA132005294	214	R>Q		No	ClinGen TOPMed gnomAD
TCGA novel	216	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362103552 rs755691445	217	S>*		No	ClinGen ExAC TOPMed gnomAD
CA3553220 rs755691445	217	S>L		No	ClinGen ExAC TOPMed gnomAD
rs866182849 CA132005302	218	S>F		No	ClinGen Ensembl
rs777237537 CA362103560	219	P>A		No	ClinGen ExAC TOPMed gnomAD
CA3553221 rs777237537	219	P>S		No	ClinGen ExAC TOPMed gnomAD
rs370094182 CA3553225	223	L>I		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	228	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362103666 rs1267837574	234	I>T		No	ClinGen gnomAD
rs1469311354 CA362103669	235	G>R		No	ClinGen gnomAD
rs746960484 CA3553228	241	F>S		No	ClinGen ExAC gnomAD
TCGA novel	241	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1305477627 CA362103731	243	S>F		No	ClinGen TOPMed
CA132005317 rs770251542	244	L>F		No	ClinGen Ensembl
rs139449745 CA3553232	246	D>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs139449745 CA3553231	246	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1454196455 CA362103762	248	N>S		No	ClinGen TOPMed
CA3553234 rs759880415	249	K>E		No	ClinGen ExAC gnomAD
rs140430355 CA3553237	252	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs749352590 CA3553238	253	I>T		No	ClinGen ExAC gnomAD
rs1323750445 CA362103792	253	I>V		No	ClinGen gnomAD
CA362104211 rs1234855264	255	E>K		No	ClinGen TOPMed
rs145405039 CA3553254	256	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs764590955 CA3553255	260	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	261	W>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3553257 rs761371176	263	S>T		No	ClinGen ExAC gnomAD
rs764798982 CA3553259	264	R>G		No	ClinGen ExAC TOPMed gnomAD
CA362104271 rs1274538546	264	R>Q		No	ClinGen TOPMed gnomAD
CA3553258 rs764798982	264	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1204061511 CA362104277	265	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA3553261 rs779522689	268	K>E		No	ClinGen ExAC gnomAD
TCGA novel	268	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1185506915 CA362104311	270	I>V		No	ClinGen gnomAD
CA362104347 rs1188152804	275	N>H		No	ClinGen gnomAD
rs1421805320 CA362104351	275	N>S		No	ClinGen gnomAD
CA3553264 rs781283532	279	V>I		No	ClinGen ExAC gnomAD
CA3553265 rs748096915	281	T>M		No	ClinGen ExAC gnomAD
rs1193231358 CA362104621	285	N>K		No	ClinGen TOPMed
rs762534189 CA362104618	285	N>S		No	ClinGen ExAC gnomAD
rs762534189 CA3553294	285	N>T		No	ClinGen ExAC gnomAD
RCV000788862 rs1581049599 CA362104624	286	K>*		No	ClinGen ClinVar Ensembl dbSNP
TCGA novel	287	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3553296 rs774190772	290	R>G		No	ClinGen ExAC
CA362104653 rs1470748984	290	R>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1160664233 CA362104660	291	D>H		No	ClinGen gnomAD
CA3553297 rs759245831	299	I>T		No	ClinGen ExAC gnomAD
rs1581049691 CA362104756	305	M>V		No	ClinGen Ensembl
CA3553300 rs755800591	307	L>F		No	ClinGen ExAC gnomAD
CA362104801 rs764108527	311	G>C		No	ClinGen ExAC gnomAD
rs764108527 CA3553301	311	G>S		No	ClinGen ExAC gnomAD
CA3553303 rs758571784	312	A>E		No	ClinGen ExAC TOPMed gnomAD
rs753706915 CA3553302	312	A>T		No	ClinGen ExAC TOPMed gnomAD
CA132019971 rs1003997383	313	K>E		No	ClinGen TOPMed
rs1220804184 CA362104829	315	C>Y		No	ClinGen TOPMed
rs1328166480 CA362104853	319	L>V		No	ClinGen TOPMed gnomAD
TCGA novel	322	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362104891 rs1422412089	325	V>M		No	ClinGen TOPMed gnomAD
CA362105004 rs1411445672	327	V>G		No	ClinGen TOPMed
rs1348322918 CA362105007	328	M>V		No	ClinGen TOPMed
rs745386826 CA3553331	330	I>V		No	ClinGen ExAC gnomAD
rs149096712 CA132022405	331	T>K		No	ClinGen ESP
rs1314494043 CA362105055	332	D>V		No	ClinGen gnomAD
CA3553332 rs771697756	333	I>V		No	ClinGen ExAC TOPMed gnomAD
rs775280042 CA132022445	334	I>L		No	ClinGen ExAC TOPMed gnomAD
rs775280042 CA3553333	334	I>V		No	ClinGen ExAC TOPMed gnomAD
rs760215552 CA3553334	335	K>R		No	ClinGen ExAC gnomAD
rs1230686111 CA362105095	336	G>R		No	ClinGen gnomAD
CA3553336 rs776313136	338	A>S		No	ClinGen ExAC gnomAD
rs375687811 CA3553337	339	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	340	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	342	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs112557122 CA132022480	345	Q>R		No	ClinGen Ensembl
rs759668398 CA3553340	346	H>Y		No	ClinGen ExAC
TCGA novel	349	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3553341 rs767485999	349	P>S	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1263037458 CA362105291	352	P>L		No	ClinGen TOPMed gnomAD
CA132023713 rs914880281	360	L>P		No	ClinGen TOPMed gnomAD
rs764238924 CA3553361	362	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1308194680 CA362105535	364	L>P		No	ClinGen gnomAD
CA3553362 rs754101483	365	G>A		No	ClinGen ExAC gnomAD
CA362105550 rs1227141770	367	V>I		No	ClinGen gnomAD
TCGA novel	367	V>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362105560 rs1268050330	368	I>T		No	ClinGen gnomAD
CA3553363 rs757764644	369	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1244410033 CA362105578	371	K>R		No	ClinGen gnomAD
rs1487972151 CA362105584	372	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	373	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362105613 rs1561612531	376	G>E		No	ClinGen Ensembl
TCGA novel	376	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3553388 rs780646820	379	L>V		No	ClinGen ExAC gnomAD
rs984942603 CA132024476	385	M>V		No	ClinGen TOPMed
CA362105712 rs1236825456	389	D>Y		No	ClinGen gnomAD
rs777344046 CA3553391	391	I>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	392	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3553392 rs749099420	394	R>H		No	ClinGen ExAC gnomAD
CA362105757 rs1472764319	395	K>N		No	ClinGen TOPMed
rs774221990 CA3553394	396	D>E		No	ClinGen ExAC gnomAD
rs770750889 CA3553393	396	D>N		No	ClinGen ExAC gnomAD
CA362105802 rs1332833228	402	D>G		No	ClinGen gnomAD
rs761943047 CA362105825	406	V>L		No	ClinGen ExAC TOPMed gnomAD
CA362105834 rs1460421118	407	V>A		No	ClinGen TOPMed
CA3553400 rs770543129	408	A>T	Variant assessed as Somatic; 4.626e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	415	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	423	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA132026583 rs908186195	425	D>H		No	ClinGen gnomAD
CA362105965 rs908186195	425	D>N		No	ClinGen gnomAD
CA362105988 rs1208198748	428	I>V		No	ClinGen gnomAD
rs1268064109 CA362105997	429	T>I		No	ClinGen TOPMed gnomAD
rs1268064109 CA362105999	429	T>S		No	ClinGen TOPMed gnomAD
CA362106001 rs370264550	430	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA362106046 rs1481815264	436	D>G		No	ClinGen gnomAD
rs1473103819 CA362106061	438	Y>C		No	ClinGen gnomAD
TCGA novel	440	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1410380648 CA362106090	442	T>I		No	ClinGen gnomAD
rs1457117554 CA362106101	444	R>G		No	ClinGen gnomAD
rs541834027 CA132026618	444	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs763200371 CA3553421	444	R>S		No	ClinGen ExAC gnomAD
rs1403300045 CA362106111	445	N>K		No	ClinGen TOPMed gnomAD
rs774799020 CA3553423	447	E>*		No	ClinGen ExAC gnomAD
CA362106133 rs1411417063	449	I>V		No	ClinGen gnomAD
CA3553426 rs768028446	453	C>Y		No	ClinGen ExAC gnomAD
TCGA novel	455	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs368892236 CA3553431	456	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs2306559 CA362106200	458	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3553433 rs750236236	459	T>M		No	ClinGen ExAC TOPMed gnomAD
CA362106216 rs1472566080	461	P>L		No	ClinGen gnomAD
rs200560235 CA362106468 CA362106469	466	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1234314606 CA362106488	469	G>E		No	ClinGen TOPMed
rs1203531858 CA362106487	469	G>R		No	ClinGen gnomAD
rs1186355547 CA362106523	474	N>Y		No	ClinGen gnomAD
CA3553467 rs778909898	477	R>H		No	ClinGen ExAC TOPMed gnomAD
CA132031912 rs563258542	477	R>S		No	ClinGen ExAC TOPMed gnomAD
CA3553469 rs370114623	479	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs767552486 CA3553473	482	Y>H		No	ClinGen ExAC gnomAD
TCGA novel	483	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1406953698 CA362106631	487	P>L		No	ClinGen TOPMed
rs752575256 CA3553474	488	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3553475 rs757403007	488	R>H		No	ClinGen ExAC TOPMed gnomAD
CA362106638 rs757403007	488	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1330674491 CA362106653	490	M>L		No	ClinGen gnomAD
CA3553476 rs778839388	490	M>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	492	T>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs192453842 CA3553477	494	K>N		No	ClinGen 1000Genomes ExAC
TCGA novel	496	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362106723 rs1298101596	497	V>I		No	ClinGen gnomAD
CA362106733 rs1229551703	498	P>S		No	ClinGen gnomAD
CA362106758 rs1309883632	501	D>N		No	ClinGen gnomAD
CA362106773 rs1228625365	502	M>I	Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1331851317 CA362106768	502	M>L		No	ClinGen TOPMed
rs369688871 CA3553499	503	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs780311208 CA3553498	503	Q>K		No	ClinGen ExAC gnomAD
CA362106819 rs1237967443	508	R>*		No	ClinGen gnomAD
rs1371558140 CA362106820	508	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA3553501 rs781388585	510	M>L		No	ClinGen ExAC TOPMed gnomAD
CA362106865 rs1444258253	513	H>R		No	ClinGen gnomAD
CA362106879 rs1392489581	514	R>Q		No	ClinGen gnomAD
CA362106896 rs1328532960	515	S>L		No	ClinGen gnomAD
rs201439364 CA3553503	516	S>P		No	ClinGen ExAC TOPMed gnomAD
CA362106958 rs1450770032	519	S>P		No	ClinGen gnomAD
CA132034749 rs796620648	519	S>Y		No	ClinGen Ensembl
CA3553523 rs756879850	520	K>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	523	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362107072 rs1313370046	524	E>G		No	ClinGen Ensembl
rs1466162140 CA362107121	527	F>L		No	ClinGen TOPMed gnomAD
CA362107127 rs1581078419	528	A>S		No	ClinGen Ensembl
CA3553524 rs778592705	530	S>Y		No	ClinGen ExAC gnomAD
CA362107205 rs373197319	534	L>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA3553527 rs373197319	534	L>V		No	ClinGen ESP ExAC gnomAD
CA3553530 rs776589227	535	M>I		No	ClinGen ExAC TOPMed gnomAD
CA362107247 rs1247699915	537	E>Q		No	ClinGen gnomAD
rs761716354 CA3553531	539	G>E		No	ClinGen ExAC gnomAD
rs1581078515 CA362107291	540	T>S		No	ClinGen Ensembl
CA132034772 rs985202082	541	T>A		No	ClinGen TOPMed
CA362107325 rs1241044327	543	H>Y		No	ClinGen TOPMed
CA362107350 rs767643359	544	D>E		No	ClinGen ExAC TOPMed gnomAD
rs143137802 CA3553536	548	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs764534218 CA3553538	551	V>I		No	ClinGen ExAC gnomAD
TCGA novel	553	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779591987 CA3553563	554	G>V		No	ClinGen ExAC TOPMed gnomAD
rs199853621 CA3553565	556	S>C		No	ClinGen 1000Genomes ExAC gnomAD
CA3553564 rs199853621	556	S>G		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	556	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1390633737 CA362107673	557	K>R		No	ClinGen gnomAD
rs144145929 CA3553570	564	A>T	Variant assessed as Somatic; 4.646e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	565	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs540284796 CA3553571	567	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1450774351 CA362107764	570	S>F		No	ClinGen gnomAD
CA3553572 rs775674415	571	Y>D		No	ClinGen ExAC gnomAD
CA132036442 rs267600546	572	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1343068833 CA362107773	572	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA362107776 rs769013637	573	H>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA3553574 rs769013637	573	H>Y		No	ClinGen ExAC gnomAD
CA362107786 rs776981079	574	H>L		No	ClinGen ExAC gnomAD
CA3553575 rs776981079	574	H>R		No	ClinGen ExAC gnomAD
rs1201508664 CA362107791	575	V>L		No	ClinGen gnomAD
CA362107790 rs1201508664	575	V>M		No	ClinGen gnomAD
CA3553578 rs750939177	580	A>V		No	ClinGen ExAC gnomAD
CA3553582 rs754423163	583	S>I		No	ClinGen ExAC TOPMed gnomAD
rs754423163 CA362107843	583	S>N		No	ClinGen ExAC TOPMed gnomAD
CA362107859 rs1266646013	585	S>I		No	ClinGen TOPMed
CA3553583 rs201774749	587	S>N		No	ClinGen 1000Genomes ExAC gnomAD
CA362107877 rs1442063304	588	S>C		No	ClinGen Ensembl
CA362107887 rs1408472260	589	V>A		No	ClinGen gnomAD
CA3553586 rs777647196	594	V>I		No	ClinGen ExAC TOPMed
rs1336089517 CA362107921	595	S>N		No	ClinGen gnomAD
CA362107933 rs1384088682	597	R>Q		No	ClinGen gnomAD
rs770906402 CA3553588	598	D>G		No	ClinGen ExAC TOPMed gnomAD
rs770906402 CA362107939	598	D>V		No	ClinGen ExAC TOPMed gnomAD
rs111348804 CA132036514	601	S>T		No	ClinGen Ensembl
rs1209261679 CA362107963	602	I>V		No	ClinGen gnomAD
TCGA novel	616	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1224485487 CA362108085	619	G>R		No	ClinGen gnomAD
rs1017704525 CA132036751	622	K>N		No	ClinGen TOPMed
CA3553617 rs770056054	624	R>C		No	ClinGen ExAC gnomAD
rs1487304870 CA362108121	624	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs149106608 CA3553619	625	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1408896406 CA362108138	626	K>N		No	ClinGen gnomAD
CA362108149 rs1581082699	628	Q>R		No	ClinGen Ensembl
rs1157270070 CA362108154	629	L>V		No	ClinGen TOPMed gnomAD
CA362108179 rs771194180	632	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1363448624 CA362108199	635	E>G		No	ClinGen gnomAD
TCGA novel	636	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	638	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1312648667 CA362108232	639	I>M		No	ClinGen TOPMed
CA362108230 rs1227610021	639	I>T		No	ClinGen TOPMed
CA3553622 rs760011972	641	D>V		No	ClinGen ExAC gnomAD
rs184460829 CA132036768	642	G>R		No	ClinGen 1000Genomes
TCGA novel	649	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778122455 CA3553635	652	T>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	654	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1440586284 CA362108559	655	A>T		No	ClinGen gnomAD
rs1297152138 CA362108566	656	L>V		No	ClinGen gnomAD
CA362108583 rs1368488539	658	N>S		No	ClinGen TOPMed
rs1286133001 CA362108594	660	M>L		No	ClinGen TOPMed gnomAD
CA132038163 rs371790704	661	M>I		No	ClinGen Ensembl
CA362108745 rs1312449522	670	D>G		No	ClinGen gnomAD
rs772582340 CA3553640	671	I>V		No	ClinGen ExAC gnomAD
CA3553642 rs760302843	673	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1305713516 CA362108827	676	A>G		No	ClinGen gnomAD
CA362109046 rs1481684672	680	I>M		No	ClinGen gnomAD
rs780654476 CA3553659	680	I>V		No	ClinGen ExAC gnomAD
TCGA novel	682	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3553661 rs35832136	684	I>V		No	ClinGen ExAC gnomAD
rs993592703 CA132038996	687	R>W		No	ClinGen Ensembl
RCV001310884 rs1761963022	690	Q>P		No	ClinVar dbSNP
rs761316602 CA3553663	691	H>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs769580278 CA3553664	692	F>L		No	ClinGen ExAC gnomAD
CA362109145 rs1299157873	693	N>S		No	ClinGen TOPMed
rs1281502649 CA362109167	695	V>I		No	ClinGen gnomAD
CA362109168 rs1281502649	695	V>L		No	ClinGen gnomAD
TCGA novel	698	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362109316 rs1445432409	705	S>R		No	ClinGen gnomAD
rs1215565580 CA362109328	706	A>V		No	ClinGen gnomAD
rs1490996564 CA362109341	707	T>I		No	ClinGen gnomAD
CA132039762 rs368031697	712	K>R		No	ClinGen ESP TOPMed
rs759318161 CA3553688	714	M>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	716	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1009202520 CA132039790	719	T>S		No	ClinGen Ensembl
CA362109566 rs1359183468	722	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs767414232 CA362109578	723	T>I		No	ClinGen ExAC gnomAD
CA3553689 rs767414232	723	T>N		No	ClinGen ExAC gnomAD
CA362109587 rs1412616854	725	S>C		No	ClinGen TOPMed
rs765282663 CA3553692	728	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1022869510 CA132039837	734	L>R		No	ClinGen TOPMed
CA132039841 rs758912789	736	T>M		No	ClinGen TOPMed gnomAD
rs1385184467 CA362109684	739	A>G		No	ClinGen gnomAD
CA132039851 rs771779242	740	L>M		No	ClinGen Ensembl
rs1033588046 CA132039855	741	E>D		No	ClinGen Ensembl
TCGA novel	746	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362109742 rs35887608	747	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs199603412 CA3553698	748	V>I		No	ClinGen ExAC TOPMed gnomAD
rs755733930 CA3553700	749	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA3553699 rs748633577	749	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs373947127 CA3553701	750	S>L		No	ClinGen ESP ExAC gnomAD
TCGA novel	751	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs371936048 CA3553703	752	T>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA362196036 rs1468470986	756	Q>H		No	ClinGen gnomAD
rs1373412108 CA564621321	756	Q>HLFHHGN*		No	ClinGen gnomAD
rs1302470708 CA362196047	758	Y>C		No	ClinGen gnomAD
rs988599743 CA132322285	759	E>K		No	ClinGen gnomAD
CA3553723 rs371785252	760	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA362196092 rs1224636432	764	M>I		No	ClinGen TOPMed gnomAD
rs868642207 CA132322286	764	M>K		No	ClinGen Ensembl
TCGA novel	768	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1232157605 CA362196153	772	R>L		No	ClinGen gnomAD
rs746741865 CA3553725	772	R>W		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	773	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	773	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362196194 rs1561659121	778	N>S		No	ClinGen Ensembl
TCGA novel	779	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362196228 rs1338082610	783	S>G		No	ClinGen TOPMed
rs761107626 CA132322290	783	S>T		No	ClinGen Ensembl
CA362196236 rs1166119457	784	Q>K		No	ClinGen TOPMed gnomAD
rs376374557 CA132322291	785	Y>N		No	ClinGen ESP TOPMed
rs771008549 CA3553729	789	I>T		No	ClinGen ExAC gnomAD
CA362197234 rs1226122588	794	A>V		No	ClinGen gnomAD
rs373025633 CA3553741	798	Y>D		No	ClinGen ESP ExAC gnomAD
CA3553742 rs373025633	798	Y>H		No	ClinGen ESP ExAC gnomAD
rs781143323 CA3553744	800	P>S		No	ClinGen ExAC gnomAD
CA3553747 rs774521100	804	H>R		No	ClinGen ExAC gnomAD
rs1373147243 CA362197374	806	V>I		No	ClinGen TOPMed
CA3553748 rs759465641	808	M>T		No	ClinGen ExAC TOPMed gnomAD
rs775851597 CA362197464	812	A>E		No	ClinGen ExAC TOPMed gnomAD
CA362197674 rs1581153351	817	Q>K		No	ClinGen Ensembl
rs1297649266 CA362197691	817	Q>L		No	ClinGen gnomAD
CA3553767 rs772249692	818	L>F		No	ClinGen ExAC gnomAD
rs775904342 CA3553768	819	L>V		No	ClinGen ExAC gnomAD
rs370192291 CA3553769	820	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA3553770 rs768962752	821	E>A		No	ClinGen ExAC gnomAD
TCGA novel	821	E>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362197843 rs777063242	824	T>I		No	ClinGen ExAC TOPMed gnomAD
CA3553771 rs777063242	824	T>N		No	ClinGen ExAC TOPMed gnomAD
rs777063242 CA362197840	824	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1187413352 CA362197861	825	C>Y		No	ClinGen gnomAD
rs1422312769 CA362197874	826	I>N		No	ClinGen gnomAD
rs1561671839 CA362197899	827	P>L		No	ClinGen Ensembl
rs1169398754 CA362197999	832	Q>R		No	ClinGen gnomAD
CA132323936 rs1030319947	839	M>V		No	ClinGen Ensembl
TCGA novel	842	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA132323938 rs372598080	842	I>V		No	ClinGen ESP TOPMed
rs866473744 CA132323939	844	Q>*		No	ClinGen Ensembl
rs773584607 CA3553774	849	K>*		No	ClinGen ExAC TOPMed gnomAD
rs1359811683 CA362198188	851	Q>P		No	ClinGen TOPMed gnomAD
CA3553795 rs758988078	853	C>F		No	ClinGen ExAC TOPMed gnomAD
rs948374520 CA132328602	854	R>W		No	ClinGen Ensembl
CA3553799 rs201511979	860	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs369306554 CA3553800	861	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs549237423 CA132328603	862	T>A		No	ClinGen Ensembl
rs1178572768 CA362197582	867	E>*		No	ClinGen gnomAD
rs1378318206 CA362197587	867	E>V		No	ClinGen gnomAD
TCGA novel	870	E>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362197682 rs1321712352	875	M>T		No	ClinGen TOPMed gnomAD
rs1330591193 CA362197722	877	H>Y		No	ClinGen gnomAD
TCGA novel	881	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1292904719 CA362197802	882	R>G		No	ClinGen gnomAD
CA362197827 rs1202699432	883	K>R		No	ClinGen TOPMed
TCGA novel	884	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774825425 CA3553811	886	V>A		No	ClinGen ExAC gnomAD
CA362197904 rs199862297	886	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1205939161 CA362198006	890	N>S		No	ClinGen gnomAD
rs1331123109 CA362198055	893	L>M		No	ClinGen Ensembl
CA3553812 rs759112513	894	E>A		No	ClinGen ExAC gnomAD
CA362198247 rs1184024458	900	D>V		No	ClinGen gnomAD
CA362198253 rs771461758	901	A>E		No	ClinGen ExAC gnomAD
rs771461758 CA3553813	901	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA3553833 rs760177810	902	A>T		No	ClinGen ExAC gnomAD
rs1351262190 CA362202453	904	T>A		No	ClinGen TOPMed
rs746173857 CA3553834	904	T>I		No	ClinGen ExAC gnomAD
rs1311329317 CA362202461	905	Y>C		No	ClinGen TOPMed
CA362202459 rs1333876535	905	Y>H		No	ClinGen gnomAD
CA362202515 rs1220969226	912	M>T		No	ClinGen TOPMed gnomAD
CA3553837 rs765098414	917	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1046162059 CA132333137	917	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs574377757 CA3553838	918	T>I		No	ClinGen 1000Genomes ExAC gnomAD
rs766269213 CA3553840	920	N>K		No	ClinGen ExAC TOPMed gnomAD
CA362202561 rs1262144938	920	N>S		No	ClinGen gnomAD
CA3553841 rs370529585	921	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs945868529 CA132333139	921	R>W		No	ClinGen TOPMed gnomAD
CA362202571 rs1385874098	922	T>R		No	ClinGen TOPMed
rs1477544977 CA362202569	922	T>S		No	ClinGen gnomAD
rs756203819 CA3553842	926	M>V		No	ClinGen ExAC TOPMed gnomAD
rs754028409 CA3553844	928	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3553845 rs757422370	933	I>T		No	ClinGen ExAC gnomAD
rs1243534362 CA362202832	935	H>Q		No	ClinGen gnomAD
rs1048722934 CA132348924	936	F>S		No	ClinGen TOPMed
rs930270528 CA132348923	936	F>V		No	ClinGen TOPMed
rs998432090 CA132348925	938	A>P		No	ClinGen Ensembl
rs771688755 CA3554004	938	A>V		No	ClinGen ExAC gnomAD
CA3554006 rs774717966	940	M>T		No	ClinGen ExAC gnomAD
CA3554005 rs775177174	940	M>V		No	ClinGen ExAC gnomAD
CA362202923 rs1455373633	943	I>V		No	ClinGen gnomAD
rs1171686403 CA362202962	945	N>K		No	ClinGen TOPMed gnomAD
rs764000879 CA362203006	948	G>D		No	ClinGen ExAC gnomAD
CA362203000 rs1394361690	948	G>S		No	ClinGen gnomAD
rs764000879 CA3554007	948	G>V		No	ClinGen ExAC gnomAD
rs1260020369 CA362203011	949	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1315917365 CA362203029	950	Q>E		No	ClinGen TOPMed
rs761842980 CA3554009	951	H>Q		No	ClinGen ExAC gnomAD
rs144126398 CA3554010	953	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA3554012 rs755086164	954	F>S		No	ClinGen ExAC gnomAD
CA3554015 rs756282672	961	T>N		No	ClinGen ExAC gnomAD
rs1314820263 CA362203196	962	S>N		No	ClinGen TOPMed gnomAD
TCGA novel	966	V>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764243508 CA3554035	967	D>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	971	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1486121484 CA362101781	971	E>V		No	ClinGen TOPMed
rs1282618236 CA362101799	974	I>L		No	ClinGen TOPMed
rs561243729 CA3554036	977	K>R		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	979	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3554040 rs758789166	983	N>D		No	ClinGen ExAC gnomAD
CA3554041 rs779712606	983	N>I		No	ClinGen ExAC gnomAD
rs768478391 CA3554043	984	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1561867891 CA362101892	987	G>E		No	ClinGen Ensembl
rs769613423 CA3554046	990	M>L		No	ClinGen ExAC gnomAD
rs1307775065 CA362101915	990	M>T		No	ClinGen TOPMed gnomAD
rs1270828281 CA362101949	994	M>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1371692123 CA362101944	994	M>V		No	ClinGen gnomAD
CA362101978 rs1437145542	998	R>M		No	ClinGen gnomAD
CA362102829 rs1561872365	999	V>I		No	ClinGen Ensembl
CA3554072 rs765316029	1002	R>T		No	ClinGen ExAC TOPMed gnomAD
CA3554074 rs763218061	1006	K>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1479571942 CA362102900	1009	E>G		No	ClinGen gnomAD
rs1305560385 CA362102909	1010	T>I		No	ClinGen gnomAD
CA362102911 rs1368669567	1011	M>V		No	ClinGen gnomAD
CA3554076 rs752094355	1013	Q>R		No	ClinGen ExAC gnomAD
CA362102941 rs1581514060	1014	K>N		No	ClinGen Ensembl
rs1255476072 CA362102952	1016	L>Q		No	ClinGen gnomAD
rs751292939 CA132008868	1018	H>N		No	ClinGen Ensembl
CA132008874 rs201825096	1018	H>P		No	ClinGen ExAC gnomAD
CA3554077 rs201825096	1018	H>R		No	ClinGen ExAC gnomAD
CA3554079 rs368028175	1019	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1222192281 CA362102973	1020	N>D		No	ClinGen TOPMed
rs1194609493 CA362102977	1020	N>I		No	ClinGen TOPMed gnomAD
CA362103832 rs1411116656	1027	N>S		No	ClinGen gnomAD
CA362103849 rs1423057731	1029	Y>C		No	ClinGen TOPMed gnomAD
TCGA novel	1031	H>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778683108 CA3554106	1033	A>E		No	ClinGen ExAC TOPMed gnomAD
CA132018668 rs916073375	1033	A>S		No	ClinGen TOPMed
rs778683108 CA3554107	1033	A>V		No	ClinGen ExAC TOPMed gnomAD
CA132018698 rs774840282	1037	I>V		No	ClinGen Ensembl
rs1166861366 CA362103923	1040	D>E		No	ClinGen gnomAD
rs1370046893 CA362103944	1044	L>M		No	ClinGen gnomAD
rs748296498 CA3554110	1044	L>R		No	ClinGen ExAC gnomAD
rs1309041932 CA362103956	1046	Q>E		No	ClinGen TOPMed
rs1377213187 CA362103960	1046	Q>R		No	ClinGen gnomAD
TCGA novel	1051	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772417044 CA362104100	1064	R>G		No	ClinGen ExAC TOPMed gnomAD
CA362104102 rs185160653	1064	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs185160653 CA3554136	1064	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA362104115 rs1432608677	1067	G>S		No	ClinGen gnomAD
rs1371764307 CA362104136	1070	I>V		No	ClinGen TOPMed
rs764907652 CA3554140	1071	R>C		No	ClinGen ExAC gnomAD
rs750051021 CA3554141	1071	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1167414180 CA362104179	1075	Y>*		No	ClinGen gnomAD
CA362104182 rs1561878197	1076	K>*		No	ClinGen Ensembl
rs1320279380 CA362104185	1076	K>T		No	ClinGen gnomAD
TCGA novel	1082	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1083	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774075308 CA3554165	1085	I>T		No	ClinGen ExAC gnomAD
rs1226359863 CA362104974	1086	P>T		No	ClinGen gnomAD
CA3554166 rs187197739	1087	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1216001943 CA362104989	1088	M>T		No	ClinGen gnomAD
CA132028301 rs539809490	1090	G>E		No	ClinGen Ensembl
rs1260336000 CA362105034	1091	P>R		No	ClinGen TOPMed
CA3554167 rs150196463	1091	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA3554168 rs752662425	1092	I>V		No	ClinGen ExAC TOPMed gnomAD
CA3554169 rs756069267	1093	L>S		No	ClinGen ExAC TOPMed gnomAD
rs138927937 CA3554170	1095	M>I		No	ClinGen ESP ExAC TOPMed
rs1452463946 CA362105112	1096	T>S		No	ClinGen TOPMed
TCGA novel	1100	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs758605329 CA362105224	1102	E>D		No	ClinGen ExAC gnomAD
rs1258425178 CA362105208	1102	E>K		No	ClinGen gnomAD
CA362105258 rs1411014741	1105	K>E		No	ClinGen gnomAD
CA362105304 rs1273418878	1108	I>V		No	ClinGen TOPMed gnomAD
CA132028391 rs1023666012	1110	I>V		No	ClinGen TOPMed
rs748822032 CA3554179	1121	R>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs770560364 CA3554180	1121	R>S		No	ClinGen ExAC gnomAD
rs774025318 CA3554181	1122	S>N		No	ClinGen ExAC gnomAD
CA362105413 rs1445335533	1123	G>V		No	ClinGen TOPMed
rs1261156670 CA362105418	1124	D>G		No	ClinGen TOPMed
CA362106258 rs1317537428	1131	E>G		No	ClinGen TOPMed
CA362106254 rs1360509769	1131	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs775481479 CA3554202	1133	I>M		No	ClinGen ExAC gnomAD
CA362106344 rs776606366	1144	R>P		No	ClinGen ExAC TOPMed gnomAD
rs776606366 CA3554205	1144	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1432443241 CA362106352	1146	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA3554208 rs577269066	1147	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs1330058560 CA362106373	1148	Q>H		No	ClinGen gnomAD
CA3554209 rs759770667	1148	Q>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1230685825 CA362106375	1149	Y>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1464675646 CA362106382	1150	M>L		No	ClinGen TOPMed gnomAD
rs1464675646 CA362106383	1150	M>V		No	ClinGen TOPMed gnomAD
CA362106392 rs1210969507	1151	Q>E		No	ClinGen gnomAD
rs1270029570 CA362106401	1152	L>F		No	ClinGen TOPMed gnomAD
rs1270029570 CA362106400	1152	L>V		No	ClinGen TOPMed gnomAD
CA362106409 rs1216000206	1153	L>Q		No	ClinGen TOPMed
rs1197508889	1155	S>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA3554214 rs778193399	1156	I>S		No	ClinGen ExAC TOPMed gnomAD
rs778193399 CA3554213	1156	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1284984597 CA362106425	1156	I>V		No	ClinGen gnomAD
CA132040369 rs763580557	1158	M>L		No	ClinGen Ensembl
CA3554234 rs779281264	1158	M>T		No	ClinGen ExAC gnomAD
CA362106938 rs1273533923	1161	A>T		No	ClinGen gnomAD
rs749992814 CA3554235	1163	E>K		No	ClinGen ExAC TOPMed gnomAD
CA362106974 rs1269061664	1164	H>N		No	ClinGen TOPMed
CA3554236 rs757958709	1164	H>R		No	ClinGen ExAC gnomAD
rs779659113 CA3554237	1167	I>V		No	ClinGen ExAC gnomAD
CA3554239 rs768124036	1169	K>R		No	ClinGen ExAC TOPMed gnomAD
CA3554240 rs137955744	1170	S>L	Variant assessed as Somatic; 4.623e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs773106819 CA3554243	1173	N>K		No	ClinGen ExAC gnomAD
rs769839423 CA3554242	1173	N>S		No	ClinGen ExAC gnomAD
CA3554245 rs772162450	1175	V>M		No	ClinGen ExAC gnomAD
rs775508470 CA3554246	1179	K>R		No	ClinGen ExAC gnomAD
TCGA novel	1184	K>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1187	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362107283 rs1296219592	1189	R>W		No	ClinGen TOPMed gnomAD
CA3554250 rs762050818	1190	G>D		No	ClinGen ExAC gnomAD
CA362107342 rs1482820998	1194	D>H		No	ClinGen gnomAD
CA3554252 rs750989202	1198	D>H		No	ClinGen ExAC gnomAD
CA362107466 rs1418915635	1202	S>I		No	ClinGen gnomAD
rs1433800308 CA362107483	1203	C>*		No	ClinGen TOPMed gnomAD
TCGA novel	1203	C>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1021301837 CA132040515	1204	T>A		No	ClinGen TOPMed gnomAD
TCGA novel	1205	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362107495 rs1357611971	1205	V>M		No	ClinGen TOPMed gnomAD
TCGA novel	1209	N>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1210	F>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3554287 rs768639271	1213	D>G		No	ClinGen ExAC gnomAD
rs1241599270 CA362107613	1219	M>T		No	ClinGen TOPMed
rs1183186367 CA362107622	1220	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs781291524 CA3554288	1221	I>L		No	ClinGen ExAC gnomAD
CA3554301 rs763725648	1222	R>S		No	ClinGen ExAC TOPMed gnomAD
CA362108331 rs1561893810	1227	L>F		No	ClinGen Ensembl
rs753671821 CA3554302	1228	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs750359367 CA3554305	1229	D>G		No	ClinGen ExAC gnomAD
CA362108354 rs1169924487	1231	H>Y		No	ClinGen gnomAD
rs1447469721 CA362108370	1233	D>E		No	ClinGen TOPMed
CA132044256 rs193074993	1233	D>Y		No	ClinGen 1000Genomes
rs1409017445 CA362108376	1234	C>S		No	ClinGen gnomAD
rs758284758 CA3554306	1235	D>Y		No	ClinGen ExAC gnomAD
CA362108398 rs781142067	1237	Y>F		No	ClinGen ExAC gnomAD
rs748243352 CA3554308	1240	A>S		No	ClinGen ExAC gnomAD
rs1229297814 CA362108437	1243	T>A		No	ClinGen gnomAD
rs1489460440 CA362108451	1245	L>P		No	ClinGen TOPMed
rs139639543 CA3554314	1249	W>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs184632847 CA3554315	1250	L>F		No	ClinGen 1000Genomes ExAC gnomAD
rs752757260 CA3554325	1254	S>L		No	ClinGen ExAC gnomAD
CA362108691 rs1412449203	1257	Q>R		No	ClinGen gnomAD
TCGA novel	1258	C>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362108703 rs1156909096	1258	C>Y		No	ClinGen gnomAD
rs749556416 CA3554328	1260	S>T		No	ClinGen ExAC gnomAD
CA362108769 rs1210560876	1263	M>T		No	ClinGen TOPMed
CA3554329 rs559993081	1263	M>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1331299409 CA362108780	1264	Q>*		No	ClinGen TOPMed
rs768197840 CA362108799	1265	T>K		No	ClinGen ExAC TOPMed gnomAD
CA3554331 rs746232123	1266	G>D		No	ClinGen ExAC TOPMed gnomAD
CA362108851 rs1581550143	1269	H>P		No	ClinGen Ensembl
CA362108862 rs1466090021	1270	P>S		No	ClinGen gnomAD
CA132044705 rs200108047	1271	Q>*		No	ClinGen Ensembl
rs145262338 CA132044715	1274	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
CA3554333 rs377233075	1274	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA362108905 rs1581550165	1277	K>E		No	ClinGen Ensembl
CA362108943 rs1198264844	1282	E>D		No	ClinGen TOPMed gnomAD
rs772944212 CA3554339	1282	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA3554340 rs763252722	1285	I>L		No	ClinGen ExAC gnomAD
rs754930303 CA3554343	1287	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA3554344 rs764278559	1290	K>R		No	ClinGen ExAC gnomAD
CA132044756 rs866879295	1291	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1393001697 CA362109006	1292	K>Q		No	ClinGen TOPMed gnomAD
rs758479116 CA3554366	1293	M>K		No	ClinGen ExAC gnomAD
rs1460810663 CA362109158	1294	W>*		No	ClinGen gnomAD
TCGA novel	1295	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs936257559 CA132046485	1297	A>S		No	ClinGen TOPMed
CA362109197 rs936257559	1297	A>T		No	ClinGen TOPMed
rs956444477 CA132046499	1298	I>M		No	ClinGen TOPMed
CA132046489 rs757052633	1298	I>V		No	ClinGen gnomAD
CA362109249 rs1168641898	1301	C>R		No	ClinGen gnomAD
rs1372687005 CA362109261	1301	C>W		No	ClinGen TOPMed gnomAD
CA132046502 rs988225037	1302	K>E		No	ClinGen gnomAD
rs1304958543 CA362109275	1302	K>N		No	ClinGen gnomAD
CA362109281 rs1561896025	1303	E>*		No	ClinGen Ensembl
rs1561896028 CA362109287	1303	E>V		No	ClinGen Ensembl
CA3554369 rs370316549	1305	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs747703876 CA362109355	1308	Y>*		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1308	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA132046523 rs912911252	1309	E>G		No	ClinGen TOPMed
CA362109385 rs1212267702	1310	M>I		No	ClinGen TOPMed gnomAD
CA362109417 rs1235223610	1313	F>I		No	ClinGen gnomAD
CA362109435 rs1355216105	1315	Y>C		No	ClinGen TOPMed
CA362109454 rs1561896078	1318	L>F		No	ClinGen Ensembl
CA3554376 rs774350496	1319	S>G		No	ClinGen ExAC TOPMed gnomAD
CA3554377 rs759405150	1321	N>K		No	ClinGen ExAC TOPMed gnomAD
CA362109809 rs1264958585	1323	I>N		No	ClinGen gnomAD
CA132047450 rs892946325	1323	I>V		No	ClinGen Ensembl
CA362109840 rs1300947192	1327	K>N		No	ClinGen gnomAD
rs1425962573 CA362109839	1327	K>T		No	ClinGen gnomAD
rs1363914896 CA362109876	1332	I>T		No	ClinGen TOPMed
rs774576030 CA3554402	1332	I>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1333	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759715716 CA3554403	1333	M>V		No	ClinGen ExAC gnomAD
CA362109894 rs1422045942	1334	K>N		No	ClinGen Ensembl
CA132047485 rs60146068	1335	I>N		No	ClinGen Ensembl
CA132047490 rs60146068	1335	I>T		No	ClinGen Ensembl
rs1581555202 CA362109918	1338	P>L		No	ClinGen Ensembl
CA3554404 rs767874901	1339	K>T		No	ClinGen ExAC gnomAD
TCGA novel	1340	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756702952 CA3554406	1343	F>V		No	ClinGen ExAC gnomAD
CA362110016 rs1206051021	1353	P>S		No	ClinGen TOPMed gnomAD
rs1415117894 CA362110042	1357	R>Q		No	ClinGen gnomAD
rs1177166833 CA362110041	1357	R>W	Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs137922056 CA362110073	1360	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs137922056 CA3554436	1360	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1361	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs972184894 CA132004932	1362	I>T		No	ClinGen Ensembl
rs536724336 CA132004936	1364	R>C		No	ClinGen 1000Genomes TOPMed gnomAD
rs769663046 CA362110103	1364	R>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	1364	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs745943251 CA3554439	1365	G>R		No	ClinGen ExAC gnomAD
rs1581557701 CA362110120	1367	E>A		No	ClinGen Ensembl
TCGA novel	1372	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362110184 rs768935540	1376	M>V		No	ClinGen ExAC gnomAD
CA362110196 rs1202361083	1377	Q>R		No	ClinGen TOPMed gnomAD
rs1464998332 CA362110227	1381	Q>H		No	ClinGen TOPMed gnomAD
TCGA novel	1383	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362110236 rs938288633	1383	P>T		No	ClinGen TOPMed gnomAD
rs1172738016 CA362110258	1386	E>G		No	ClinGen gnomAD
rs765831486 CA362110273	1388	M>R		No	ClinGen ExAC TOPMed gnomAD
CA362110290 rs1175666304	1390	T>I		No	ClinGen gnomAD
CA362110289 rs1175666304	1390	T>S		No	ClinGen gnomAD
rs762529445 CA3554448	1393	A>P		No	ClinGen ExAC TOPMed gnomAD
CA3554449 rs765863592	1393	A>V		No	ClinGen ExAC TOPMed gnomAD
rs201799740 CA3554451	1395	G>R		No	ClinGen 1000Genomes ExAC gnomAD
CA3554452 rs780864136	1396	D>H		No	ClinGen ExAC gnomAD
TCGA novel	1396	D>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362110331 rs1222047929	1397	D>E		No	ClinGen gnomAD
rs576343036 CA3554454	1398	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3554456 rs777943387	1402	P>S		No	ClinGen ExAC TOPMed gnomAD
CA362110369 rs1281538575	1403	G>V		No	ClinGen gnomAD
CA3554457 rs772071004	1405	Y>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1406	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3554475 rs753806914	1406	I>T		No	ClinGen ExAC gnomAD
CA3554477 rs780052787	1410	T>A		No	ClinGen ExAC gnomAD
CA3554478 rs747105426	1412	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA3554479 rs768796478	1415	L>S		No	ClinGen ExAC gnomAD
rs1393466894 CA362110467	1416	D>A		No	ClinGen gnomAD
TCGA novel	1416	D>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1350454388 CA362110486	1418	H>Q		No	ClinGen TOPMed
CA3554480 rs781538418	1419	P>L		No	ClinGen ExAC gnomAD
CA362110492 rs1161835485	1420	R>G		No	ClinGen gnomAD
rs1335672301 CA362110494	1420	R>K		No	ClinGen TOPMed gnomAD
rs1335672301 CA362110496	1420	R>M		No	ClinGen TOPMed gnomAD
TCGA novel CA362110497 rs1233145705	1420	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen TOPMed NCI-TCGA
CA3554481 rs748330909	1425	P>A		No	ClinGen ExAC gnomAD
CA3554482 rs770313950	1426	V>L		No	ClinGen ExAC TOPMed gnomAD
rs76688275 CA362110553	1428	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA362110579 rs1244831224	1432	N>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs760336830 CA3554507	1433	F>L		No	ClinGen ExAC gnomAD
rs1430524411 CA362110625	1436	S>Y		No	ClinGen gnomAD
CA3554509 rs776327782	1437	N>S		No	ClinGen ExAC TOPMed gnomAD
rs963702778 CA132009161	1439	V>M		No	ClinGen Ensembl
CA132009166 rs958152335	1441	R>T		No	ClinGen TOPMed
CA3554512 rs750405913	1446	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA362110703 rs1363382445	1448	V>A		No	ClinGen gnomAD
rs200408270 CA3554514	1448	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs956858923 CA132009182	1449	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA3554515 rs752809875	1449	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1294363394 CA362110711	1450	R>K		No	ClinGen gnomAD
rs1345953028 CA362110715	1450	R>S		No	ClinGen gnomAD
CA3554516 rs199755413	1451	G>E		No	ClinGen 1000Genomes ExAC gnomAD
rs1329445070 CA362110717	1451	G>R		No	ClinGen TOPMed
CA132009188 rs988715075	1452	T>A		No	ClinGen gnomAD
CA3554519 rs757663538	1453	V>A		No	ClinGen ExAC gnomAD
CA3554518 rs749664205	1453	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA362110750 rs1481002639	1456	E>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA362110761 rs1581562654	1458	E>K		No	ClinGen Ensembl
rs1002376396 CA132009696	1462	M>I		No	ClinGen Ensembl
CA132009698 rs1033887672	1465	E>G		No	ClinGen TOPMed
rs1456564861 CA362110918	1467	T>I		No	ClinGen Ensembl
rs753265152 CA132009700	1469	F>L		No	ClinGen ExAC gnomAD
rs143595882 CA362110953	1470	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1471	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs561287880 CA3554548	1476	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs374174531 CA3554550	1480	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA3554551 rs764242211	1480	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA362111149 rs1581563267	1483	E>*		No	ClinGen Ensembl
CA362111196 rs1178503363	1486	H>R		No	ClinGen TOPMed gnomAD
CA3554556 rs758779580	1487	M>I		No	ClinGen ExAC TOPMed gnomAD
CA362111208 rs1445877624	1487	M>T		No	ClinGen gnomAD
TCGA novel	1489	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773452522 CA3554574	1490	T>A		No	ClinGen ExAC gnomAD
CA362112357 rs1339886642	1490	T>I		No	ClinGen gnomAD
CA3554575 rs371649588	1492	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs766742115 CA3554576	1496	E>Q		No	ClinGen ExAC gnomAD
CA3554577 rs751905539	1499	I>V		No	ClinGen ExAC TOPMed gnomAD
CA362112452 rs1581571758	1501	T>A		No	ClinGen Ensembl
rs201320169 CA3554579	1504	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	1504	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362112485 rs1202270473	1506	N>D		No	ClinGen gnomAD
rs145786592 CA3554583	1508	K>R		No	ClinGen ESP ExAC
TCGA novel	1509	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1477409023 CA362112529	1512	M>T		No	ClinGen gnomAD
CA362112526 rs1239985433	1512	M>V		No	ClinGen gnomAD
CA3554585 rs778911848	1513	I>V		No	ClinGen ExAC gnomAD
TCGA novel	1515	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362112574 rs1479421799	1518	S>C		No	ClinGen gnomAD
rs1171878921 CA362112578	1518	S>R		No	ClinGen gnomAD
CA362112594 rs1401325096	1520	E>D		No	ClinGen gnomAD
rs772090087 CA3554587	1520	E>V		No	ClinGen ExAC gnomAD
rs1234597184 CA362112602	1522	L>V		No	ClinGen TOPMed
rs1320587393 CA362112611	1523	P>L		No	ClinGen TOPMed gnomAD
rs1320587393 CA362112610	1523	P>R		No	ClinGen TOPMed gnomAD
rs769766167 CA3554590	1525	N>H		No	ClinGen ExAC TOPMed gnomAD
CA362112726 rs1314200779	1530	L>F		No	ClinGen TOPMed
rs1399424891 CA362112771	1533	G>R		No	ClinGen Ensembl
rs774737280 CA3554594	1538	A>T		No	ClinGen ExAC gnomAD
rs759798277 CA362112881	1543	F>L		No	ClinGen ExAC TOPMed gnomAD
rs767874214 CA3554596	1544	A>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1549	A>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362113179 rs1276612076	1553	E>D		No	ClinGen TOPMed gnomAD
rs1176647905 CA362113206	1554	E>G		No	ClinGen gnomAD
rs1439505263 CA362113182	1554	E>K		No	ClinGen gnomAD
rs775868494 CA3554617	1555	Y>H		No	ClinGen ExAC gnomAD
rs761147261 CA3554618	1556	V>I		No	ClinGen ExAC gnomAD
rs1387295202 CA362113290	1557	R>K		No	ClinGen TOPMed gnomAD
rs1387295202 CA362113296	1557	R>M		No	ClinGen TOPMed gnomAD
CA362113299 rs1268585763	1557	R>S		No	ClinGen TOPMed
rs13179480 CA132019263 VAR_053064	1558	D>A		No	ClinGen UniProt Ensembl dbSNP
rs199737175 CA132019273	1559	H>N		No	ClinGen Ensembl
CA362113375 rs1456768631	1561	E>K		No	ClinGen gnomAD
rs764695890 CA3554619	1562	D>N		No	ClinGen ExAC gnomAD
CA362113415 rs1397592123	1563	Q>K		No	ClinGen gnomAD
rs764796105 CA132019307	1567	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1561907435 CA362113445	1567	T>I		No	ClinGen Ensembl
rs764796105 CA3554622	1567	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1316787097 CA362113448	1568	H>D		No	ClinGen gnomAD
rs13179490 CA132019325	1568	H>P		No	ClinGen Ensembl
CA362113477 rs1581573124	1572	L>V		No	ClinGen Ensembl
CA3554623 rs750045178	1573	I>M		No	ClinGen ExAC gnomAD
CA362113485 rs1338333679	1573	I>T		No	ClinGen gnomAD
CA362113483 rs1223337542	1573	I>V		No	ClinGen TOPMed gnomAD
TCGA novel	1576	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778919128 CA3554649	1577	I>T		No	ClinGen ExAC gnomAD
rs1479041358 CA362114743	1581	G>A		No	ClinGen gnomAD
CA132024452 rs944315319	1588	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs747184048 CA3554653	1590	R>K		No	ClinGen ExAC gnomAD
rs1581577906 CA362115014	1593	D>G		No	ClinGen Ensembl
CA132024481 rs769142481	1593	D>N		No	ClinGen ExAC TOPMed gnomAD
CA3554654 rs769142481	1593	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA362115044 rs1289144330	1594	N>S		No	ClinGen gnomAD
CA362115091 rs1445802602	1596	R>Q		No	ClinGen TOPMed
TCGA novel	1600	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3554658 rs772636041	1601	R>Q		No	ClinGen ExAC gnomAD
rs762501415 CA3554659	1606	F>S		No	ClinGen ExAC gnomAD
CA132024505 rs377080151	1607	K>N		No	ClinGen gnomAD
TCGA novel	1610	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs899834756 CA132024507	1611	M>I		No	ClinGen Ensembl
TCGA novel	1614	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1616	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774024393 CA3554661	1616	E>K		No	ClinGen ExAC gnomAD
TCGA novel	1617	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3554663 rs767314675	1618	G>S		No	ClinGen ExAC gnomAD
rs1262958847 CA362115295	1619	V>A		No	ClinGen gnomAD
CA3554666 rs142830212	1620	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs567162342 CA132024530	1620	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA
CA362115302 rs1190037536	1621	E>Q		No	ClinGen TOPMed
CA3554690 rs368481515	1627	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1628	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1441073421 CA362115562	1628	R>S		No	ClinGen gnomAD
rs1379272230 CA362115565	1629	R>K		No	ClinGen TOPMed gnomAD
CA362115585 rs1308884283	1632	R>H		No	ClinGen TOPMed gnomAD
rs922581637 CA132025940	1634	R>M		No	ClinGen Ensembl
rs1288190722 CA362115608	1636	M>T		No	ClinGen gnomAD
CA3554696 rs745353055	1639	S>T		No	ClinGen ExAC gnomAD
rs1243151477 CA362115639	1640	Y>C		No	ClinGen gnomAD
rs775150072 CA3554698	1642	Q>R		No	ClinGen ExAC gnomAD
rs1164811666 CA362115687	1643	M>I		No	ClinGen gnomAD
rs760209585 CA3554699	1643	M>L		No	ClinGen ExAC gnomAD
CA3554700 rs768506638	1645	I>V		No	ClinGen ExAC gnomAD
CA362115735 rs1219267174	1647	S>C		No	ClinGen TOPMed
rs765233121 CA3554703	1651	M>T		No	ClinGen ExAC gnomAD
CA362115777 rs1330775226	1651	M>V		No	ClinGen gnomAD
rs1219623459 CA362115824	1654	D>Y		No	ClinGen TOPMed gnomAD
CA3554708 rs752968198	1657	T>N		No	ClinGen ExAC TOPMed gnomAD
rs902678387 CA362115862	1657	T>P		No	ClinGen Ensembl
CA132026077 rs902678387	1657	T>S		No	ClinGen Ensembl
rs532020923 CA3554709	1658	P>A		No	ClinGen 1000Genomes ExAC gnomAD
rs532020923 CA362115874	1658	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA3554713 rs779372773	1659	S>R		No	ClinGen ExAC TOPMed gnomAD
CA132026136 rs759618902	1660	K>E		No	ClinGen Ensembl
rs746328686 CA3554714	1661	P>A		No	ClinGen ExAC TOPMed gnomAD
rs746328686 CA362115909	1661	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs746328686 CA362115906	1661	P>T		No	ClinGen ExAC TOPMed gnomAD
rs771606220 CA3554715	1662	T>I		No	ClinGen ExAC gnomAD
rs779476521 CA3554716	1663	S>L		No	ClinGen ExAC TOPMed gnomAD
rs377100198 CA132027493	1668	L>V		No	ClinGen TOPMed gnomAD
TCGA novel	1674	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3554745 rs760655431	1675	T>A		No	ClinGen ExAC TOPMed gnomAD
rs150108225 CA3554749	1676	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA362116207 rs1198023082	1678	V>L		No	ClinGen gnomAD
rs1336187786 CA362116233	1680	Q>K		No	ClinGen gnomAD
rs984532936 CA132027541	1682	E>K		No	ClinGen Ensembl
CA362116287 rs1368718766	1685	S>C		No	ClinGen TOPMed
CA362116286 rs1368718766	1685	S>Y		No	ClinGen TOPMed
CA3554755 rs377714619	1686	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs377714619 CA3554754	1686	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA362116291 rs1391893436	1686	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1032678330 CA132027574	1687	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs755807147 CA362116299	1688	S>C		No	ClinGen ExAC TOPMed gnomAD
CA3554757 rs755807147	1688	S>R		No	ClinGen ExAC TOPMed gnomAD
CA362116314 rs1436903714	1690	L>P		No	ClinGen TOPMed
rs777749953 CA3554758	1691	P>T		No	ClinGen ExAC gnomAD
CA132027629 rs917113994	1693	V>A		No	ClinGen TOPMed
CA362116328 rs1448340076	1693	V>I		No	ClinGen gnomAD
rs138159817 CA3554763	1697	R>S		No	ClinGen ESP ExAC TOPMed
rs1353944306 CA362116379	1701	R>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1201664335 CA362116394	1703	K>R		No	ClinGen TOPMed gnomAD
CA362116408 rs1258610199	1705	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA3554765 rs576632273	1707	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA362116432 rs1200606271	1709	F>V		No	ClinGen gnomAD
CA362116446 rs1581580423	1711	D>N		No	ClinGen Ensembl
rs1350112444 CA362116455	1712	E>A		No	ClinGen TOPMed
CA3554769 rs779856085	1713	K>I		No	ClinGen ExAC
rs766702229 CA3554770	1714	A>E		No	ClinGen ExAC TOPMed
rs766702229 CA132027750	1714	A>V		No	ClinGen ExAC TOPMed
CA3554771 rs752039688	1716	A>T		No	ClinGen ExAC gnomAD
rs1370601059 CA362116487	1717	E>G		No	ClinGen TOPMed gnomAD
CA3554774 rs752223326	1719	D>G		No	ClinGen ExAC gnomAD
rs1048250715 CA132027824	1720	L>M		No	ClinGen TOPMed
CA362116509 rs1467586042	1721	K>E		No	ClinGen gnomAD
CA3554775 rs755897573	1721	K>R		No	ClinGen ExAC gnomAD
rs777553364 CA3554776	1722	R>W		No	ClinGen ExAC TOPMed gnomAD
CA3554806 rs756219304	1725	R>G		No	ClinGen ExAC gnomAD
CA362116941 rs1189367288	1725	R>K		No	ClinGen TOPMed
CA362116980 rs1581581161	1727	H>Y		No	ClinGen Ensembl
CA132028986 rs929256305	1736	S>L		No	ClinGen TOPMed gnomAD
CA3554810 rs774644564	1738	H>R		No	ClinGen ExAC gnomAD
rs1486787061 CA362117382	1739	A>S		No	ClinGen TOPMed
CA3554811 rs746230074	1739	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA362117412 rs1362269762	1740	A>D		No	ClinGen gnomAD
CA132029001 rs535531464	1740	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA TOPMed
CA362117431 rs1247256767	1741	I>N		No	ClinGen TOPMed
CA3554813 rs776143581	1741	I>V		No	ClinGen ExAC gnomAD
CA3554816 rs776254768	1745	A>V		No	ClinGen ExAC gnomAD
rs1038744130 CA132029028	1751	M>I		No	ClinGen Ensembl
rs758221176 CA3554821	1752	S>N		No	ClinGen ExAC gnomAD
CA3554820 rs758221176	1752	S>T		No	ClinGen ExAC gnomAD
CA3554824 rs138826774	1753	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3554825 rs749383421	1754	A>P		No	ClinGen ExAC gnomAD
rs370450130 CA362117872	1756	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs779208637 CA3554827	1756	Q>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1758	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772593666 CA3554829	1760	T>I		No	ClinGen ExAC gnomAD
rs1554130617 CA362118843	1763	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
TCGA novel CA362118850 rs141274816	1765	A>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA 1000Genomes ESP ExAC TOPMed gnomAD
rs757360422 CA3554844	1765	A>P		No	ClinGen ExAC gnomAD
rs757360422 CA3554845	1765	A>T		No	ClinGen ExAC gnomAD
CA362118892 rs1581582467	1771	I>L		No	ClinGen Ensembl
rs1581582476 CA362118909	1774	L>V		No	ClinGen Ensembl
rs1437429923 CA362118994	1778	N>K		No	ClinGen TOPMed
CA362118987 rs1456048616	1778	N>S		No	ClinGen gnomAD
CA132035171 rs2270898	1779	T>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
VAR_022137 rs2270898 CA3554855	1779	T>S		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1220603647 CA362119022	1780	S>F		No	ClinGen gnomAD
rs376280359 CA3554857	1782	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA362119065 rs1581582527	1784	S>R		No	ClinGen Ensembl
CA3554859 rs767150509	1787	F>S		No	ClinGen ExAC gnomAD
rs759339291 CA3554858	1787	F>V		No	ClinGen ExAC TOPMed gnomAD
rs1172692719 CA362119141	1788	L>F		No	ClinGen TOPMed gnomAD
CA3554862 rs760479360	1790	L>I		No	ClinGen ExAC TOPMed gnomAD
rs750435107 CA3554863	1792	D>V		No	ClinGen ExAC TOPMed gnomAD
rs1401191441 CA362119399	1799	T>A		No	ClinGen gnomAD
rs1336949501 CA362119417	1800	R>Q		No	ClinGen TOPMed gnomAD
rs368448938 CA3554867	1800	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA362119434 rs143896166	1801	K>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA132035269 rs143896166	1801	K>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	1802	K>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3554869 rs781365982	1803	V>A		No	ClinGen ExAC gnomAD
rs748740141 CA3554870	1804	N>S		No	ClinGen ExAC gnomAD
CA362119488 rs770172055	1805	Q>*		No	ClinGen ExAC gnomAD
CA3554871 rs770172055	1805	Q>K		No	ClinGen ExAC gnomAD
CA362119494 rs1347566315	1805	Q>R		No	ClinGen TOPMed
rs777409271 CA3554872	1806	F>L		No	ClinGen ExAC gnomAD
rs770369751 CA3554874	1810	M>T		No	ClinGen ExAC gnomAD
rs778156662 CA3554889	1812	A>T		No	ClinGen ExAC gnomAD
TCGA novel	1812	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362119866 rs749573495	1815	S>*		No	ClinGen ExAC TOPMed gnomAD
CA3554891 rs749573495	1815	S>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1819	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768434347 CA3554897	1819	G>D		No	ClinGen ExAC gnomAD
rs746762884 CA3554896	1819	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA362119962 rs1210411556	1820	K>Q		No	ClinGen gnomAD
rs761795739 CA3554899	1821	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA362119998 rs1469934873	1821	Q>H		No	ClinGen gnomAD
rs1211910410 CA362120002	1822	I>V		No	ClinGen gnomAD
CA132035936 rs896273989	1824	D>E		No	ClinGen TOPMed gnomAD
rs766617314 CA3554900	1824	D>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1824	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774542703 CA3554902	1825	S>*		No	ClinGen ExAC TOPMed gnomAD
CA3554901 rs774542703	1825	S>L		No	ClinGen ExAC TOPMed gnomAD
CA3554908 rs757737546	1827	S>F		No	ClinGen ExAC TOPMed gnomAD
CA3554907 rs754363622	1827	S>P		No	ClinGen ExAC gnomAD
rs202005409 CA132035999	1828	T>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA362120116 rs1448588113	1830	L>Q		No	ClinGen gnomAD

No associated diseases with Q92608

3 regional properties for Q92608

Type	Name	Position	InterPro Accession
domain	IPT domain	574 - 673	IPR002909
domain	Rel homology domain, DNA-binding domain	389 - 571	IPR011539
domain	Rel homology dimerisation domain	577 - 675	IPR032397

Functions

		Description
EC Number
Subcellular Localization	Endomembrane system ; Peripheral membrane protein Cytoplasm, cytoskeleton	Colocalizes with F-actin
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

8 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytoskeleton	A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
extracellular region	The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
specific granule lumen	The volume enclosed by the membrane of a specific granule, a granule with a membranous, tubular internal structure, found primarily in mature neutrophil cells. Most are released into the extracellular fluid. Specific granules contain lactoferrin, lysozyme, vitamin B12 binding protein and elastase.

4 GO annotations of molecular function

Name	Definition
GTPase activator activity	Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP.
guanyl-nucleotide exchange factor activity	Stimulates the exchange of GDP to GTP on a signaling GTPase, changing its conformation to its active form. Guanine nucleotide exchange factors (GEFs) act by stimulating the release of guanosine diphosphate (GDP) to allow binding of guanosine triphosphate (GTP), which is more abundant in the cell under normal cellular physiological conditions.
small GTPase binding	Binding to a small monomeric GTPase.
T cell receptor binding	Binding to a T cell receptor, the antigen-recognizing receptor on the surface of T cells.

15 GO annotations of biological process

Name	Definition
actin cytoskeleton organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins.
alpha-beta T cell proliferation	The expansion of an alpha-beta T cell population by cell division.
cell migration	The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. Cell migration is a central process in the development and maintenance of multicellular organisms.
chemotaxis	The directed movement of a motile cell or organism, or the directed growth of a cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis).
establishment of T cell polarity	The directed orientation of T cell signaling molecules and associated membrane rafts towards a chemokine gradient or a contact point with antigen presenting cell.
immunological synapse formation	The formation of an area of close contact between a lymphocyte (T-, B-, or natural killer cell) and a target cell through the clustering of particular signaling and adhesion molecules and their associated membrane rafts on both the lymphocyte and target cell, which facilitates activation of the lymphocyte, transfer of membrane from the target cell to the lymphocyte, and in some situations killing of the target cell through release of secretory granules and/or death-pathway ligand-receptor interaction.
macropinocytosis	An endocytosis process that results in the uptake of liquid material by cells from their external environment by the 'ruffling' of the cell membrane to form heterogeneously sized intracellular vesicles called macropinosomes, which can be up to 5 micrometers in size.
membrane raft polarization	The clustering and aggregation of a membrane into domains. This serves as a mechanism to compartmentalize cellular activities and to establish cell polarity.
myeloid dendritic cell activation involved in immune response	The change in morphology and behavior of a myeloid dendritic cell resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response.
myoblast fusion	A process in which non-proliferating myoblasts fuse to existing fibers or to myotubes to form new fibers. A myoblast is a mononucleate cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into skeletal muscle fibers.
negative thymic T cell selection	The process of elimination of immature T cells in the thymus which react strongly with self-antigens.
positive regulation of phagocytosis	Any process that activates or increases the frequency, rate or extent of phagocytosis.
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.
regulation of small GTPase mediated signal transduction	Any process that modulates the frequency, rate or extent of small GTPase mediated signal transduction.
small GTPase mediated signal transduction	The series of molecular signals in which a small monomeric GTPase relays a signal.

5 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9H7D0	DOCK5	Dedicator of cytokinesis protein 5	Homo sapiens (Human)	PR
Q14185	DOCK1	Dedicator of cytokinesis protein 1	Homo sapiens (Human)	PR
Q8CIQ7	Dock3	Dedicator of cytokinesis protein 3	Mus musculus (Mouse)	PR
Q8BUR4	Dock1	Dedicator of cytokinesis protein 1	Mus musculus (Mouse)	PR
Q8C3J5	Dock2	Dedicator of cytokinesis protein 2	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MAPWRKADKE	RHGVAIYNFQ	GSGAPQLSLQ	IGDVVRIQET	CGDWYRGYLI	KHKMLQGIFP
70	80	90	100	110	120
KSFIHIKEVT	VEKRRNTENI	IPAEIPLAQE	VTTTLWEWGS	IWKQLYVASK	KERFLQVQSM
130	140	150	160	170	180
MYDLMEWRSQ	LLSGTLPKDE	LKELKQKVTS	KIDYGNKILE	LDLIVRDEDG	NILDPDNTSV
190	200	210	220	230	240
ISLFHAHEEA	TDKITERIKE	EMSKDQPDYA	MYSRISSSPT	HSLYVFVRNF	VCRIGEDAEL
250	260	270	280	290	300
FMSLYDPNKQ	TVISENYLVR	WGSRGFPKEI	EMLNNLKVVF	TDLGNKDLNR	DKIYLICQIV
310	320	330	340	350	360
RVGKMDLKDT	GAKKCTQGLR	RPFGVAVMDI	TDIIKGKAES	DEEKQHFIPF	HPVTAENDFL
370	380	390	400	410	420
HSLLGKVIAS	KGDSGGQGLW	VTMKMLVGDI	IQIRKDYPHL	VDRTTVVARK	LGFPEIIMPG
430	440	450	460	470	480
DVRNDIYITL	LQGDFDKYNK	TTQRNVEVIM	CVCAEDGKTL	PNAICVGAGD	KPMNEYRSVV
490	500	510	520	530	540
YYQVKQPRWM	ETVKVAVPIE	DMQRIHLRFM	FRHRSSLESK	DKGEKNFAMS	YVKLMKEDGT
550	560	570	580	590	600
TLHDGFHDLV	VLKGDSKKME	DASAYLTLPS	YRHHVENKGA	TLSRSSSSVG	GLSVSSRDVF
610	620	630	640	650	660
SISTLVCSTK	LTQNVGLLGL	LKWRMKPQLL	QENLEKLKIV	DGEEVVKFLQ	DTLDALFNIM
670	680	690	700	710	720
MEHSQSDEYD	ILVFDALIYI	IGLIADRKFQ	HFNTVLEAYI	QQHFSATLAY	KKLMTVLKTY
730	740	750	760	770	780
LDTSSRGEQC	EPILRTLKAL	EYVFKFIVRS	RTLFSQLYEG	KEQMEFEESM	RRLFESINNL
790	800	810	820	830	840
MKSQYKTTIL	LQVAALKYIP	SVLHDVEMVF	DAKLLSQLLY	EFYTCIPPVK	LQKQKVQSMN
850	860	870	880	890	900
EIVQSNLFKK	QECRDILLPV	ITKELKELLE	QKDDMQHQVL	ERKYCVELLN	SILEVLSYQD
910	920	930	940	950	960
AAFTYHHIQE	IMVQLLRTVN	RTVITMGRDH	ILISHFVACM	TAILNQMGDQ	HYSFYIETFQ
970	980	990	1000	1010	1020
TSSELVDFLM	ETFIMFKDLI	GKNVYPGDWM	AMSMVQNRVF	LRAINKFAET	MNQKFLEHTN
1030	1040	1050	1060	1070	1080
FEFQLWNNYF	HLAVAFITQD	SLQLEQFSHA	KYNKILNKYG	DMRRLIGFSI	RDMWYKLGQN
1090	1100	1110	1120	1130	1140
KICFIPGMVG	PILEMTLIPE	AELRKATIPI	FFDMMLCEYQ	RSGDFKKFEN	EIILKLDHEV
1150	1160	1170	1180	1190	1200
EGGRGDEQYM	QLLESILMEC	AAEHPTIAKS	VENFVNLVKG	LLEKLLDYRG	VMTDESKDNR
1210	1220	1230	1240	1250	1260
MSCTVNLLNF	YKDNNREEMY	IRYLYKLRDL	HLDCDNYTEA	AYTLLLHTWL	LKWSDEQCAS
1270	1280	1290	1300	1310	1320
QVMQTGQQHP	QTHRQLKETL	YETIIGYFDK	GKMWEEAISL	CKELAEQYEM	EIFDYELLSQ
1330	1340	1350	1360	1370	1380
NLIQQAKFYE	SIMKILRPKP	DYFAVGYYGQ	GFPSFLRNKV	FIYRGKEYER	REDFQMQLMT
1390	1400	1410	1420	1430	1440
QFPNAEKMNT	TSAPGDDVKN	APGQYIQCFT	VQPVLDEHPR	FKNKPVPDQI	INFYKSNYVQ
1450	1460	1470	1480	1490	1500
RFHYSRPVRR	GTVDPENEFA	SMWIERTSFV	TAYKLPGILR	WFEVVHMSQT	TISPLENAIE
1510	1520	1530	1540	1550	1560
TMSTANEKIL	MMINQYQSDE	TLPINPLSML	LNGIVDPAVM	GGFAKYEKAF	FTEEYVRDHP
1570	1580	1590	1600	1610	1620
EDQDKLTHLK	DLIAWQIPFL	GAGIKIHEKR	VSDNLRPFHD	RMEECFKNLK	MKVEKEYGVR
1630	1640	1650	1660	1670	1680
EMPDFDDRRV	GRPRSMLRSY	RQMSIISLAS	MNSDCSTPSK	PTSESFDLEL	ASPKTPRVEQ
1690	1700	1710	1720	1730	1740
EEPISPGSTL	PEVKLRRSKK	RTKRSSVVFA	DEKAAAESDL	KRLSRKHEFM	SDTNLSEHAA
1750	1760	1770	1780	1790	1800
IPLKASVLSQ	MSFASQSMPT	IPALALSVAG	IPGLDEANTS	PRLSQTFLQL	SDGDKKTLTR
1810	1820
KKVNQFFKTM	LASKSAEEGK	QIPDSLSTDL