AiPD: Autoinhibited Protein Database

O43896

Gene name	KIF1C (KIAA0706)
Protein name	Kinesin-like protein KIF1C
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:10749
EC number
Protein Class

Descriptions

Kinesin-3 KIF13B autoinhibition involves the coiled-coil 1 (CC1) segment, which interacts with both the neck coil (NC) and the motor domain (MD). This interaction not only inhibits the NC-mediated dimerization, but also prevents the ADP release from the MD, effectively inhibiting the motor activity.

Autoinhibitory domains (AIDs)

437-479 (Coiled-coil 1) SS

Target domain	1-436 (Motor domain and neck coil)
Relief mechanism	Partner binding
Assay

AID

437-479 (Coiled-coil 1)

Target domain

1-436 (Motor domain and neck coil)

Relief mechanism

Partner binding (Cargo-mediated dimerization)

Assay

Accessory elements

No accessory elements

References

Ren J et al. (2018) "Coiled-coil 1-mediated fastening of the neck and motor domains for kinesin-3 autoinhibition", Proceedings of the National Academy of Sciences of the United States of America, 115, E11933-E11942

Autoinhibited structure

Activated structure

2 structures for O43896

Entry ID	Method	Resolution	Chain	Position	Source
2G1L	X-ray	260 A	A	498-599	PDB
AF-O43896-F1	Predicted				AlphaFoldDB

1208 variants for O43896

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000684908 rs747424547	5	S>L	Spastic ataxia 2 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV000645365 rs756071061 CA8318423	13	R>W	Spastic ataxia 2 Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV000645367 rs1368090910 CA397342753	39	N>S	Spastic ataxia 2 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001772075 RCV003166229 RCV000803511 rs202033753	42	Q>H	Spastic ataxia 2 Inborn genetic diseases [ClinVar]	Yes	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV002540253 rs771071450 RCV001768695 RCV003120666	51	T>I	Spastic ataxia 2 Inborn genetic diseases [ClinVar]	Yes	ClinVar ExAC dbSNP gnomAD
RCV000799553 rs201085674	75	R>W	Spastic ataxia 2 [ClinVar]	Yes	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001965030 rs572156268	104	S>F	Spastic ataxia 2 [ClinVar]	Yes	ClinVar 1000Genomes dbSNP
rs757847238 RCV000821734	118	I>L	Spastic ataxia 2 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs745851014 RCV001056498	129	R>C	Spastic ataxia 2 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV001848513 rs773746672 RCV002034764	138	L>V	Hereditary spastic paraplegia Spastic ataxia 2 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV001391533 rs2143312682	149	I>F	Spastic ataxia 2 [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs1291871672 RCV001934859	155	R>G	Spastic ataxia 2 [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
RCV003258975 RCV000799939 RCV002267025 rs199962814	167	R>Q	Spastic ataxia 2 Variant assessed as Somatic; MODERATE impact. Inborn genetic diseases [ClinVar, NCI-TCGA]	Yes	ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA8318586 RCV000540072 rs185479618	167	R>W	Spastic ataxia 2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000087324 COSM1521700 COSM6147257 VAR_070937 rs587777198 RCV003421989 CA150725	169	R>W	lung Spastic ataxia 2 Variant assessed as Somatic; MODERATE impact. SPAX2 [Cosmic, ClinVar, NCI-TCGA, UniProt]	Yes	ClinGen cosmic curated NCI-TCGA Cosmic ClinVar UniProt NCI-TCGA dbSNP gnomAD
RCV001093146 rs772475828 RCV001219292	176	P>L	Spastic ataxia 2 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV001953284 rs1974623326 RCV003303470	183	K>T	Spastic ataxia 2 Inborn genetic diseases [ClinVar]	Yes	ClinVar TOPMed dbSNP
rs752855724 RCV001330255 RCV002546376	190	A>T	Spastic ataxia 2 Inborn genetic diseases [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV000822526 rs754938138	193	A>T	Spastic ataxia 2 [ClinVar]	Yes	ClinVar ExAC dbSNP gnomAD
rs2143313439 RCV001918167	201	K>missing	Spastic ataxia 2 [ClinVar]	Yes	ClinVar dbSNP
CA16620467 RCV000485547 rs1064796693 RCV000985162	216	R>C	Spastic ataxia 2 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000687046 RCV003258918 RCV001252794 rs141189136	228	R>C	Spastic ataxia 2 Microcephaly Inborn genetic diseases [ClinVar]	Yes	ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001004868 rs1361059674	233	L>F	Spastic ataxia 2 [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
RCV001330256 rs201655443 RCV002546377	234	T>M	Spastic ataxia 2 Variant assessed as Somatic; MODERATE impact. Inborn genetic diseases [ClinVar, NCI-TCGA]	Yes	ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs2143317762 RCV001389057	243	K>missing	Spastic ataxia 2 [ClinVar]	Yes	ClinVar dbSNP
rs139697370 RCV000871383	244	I>M	Spastic ataxia 2 [ClinVar]	Yes	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs2143317920 RCV001647140	256	D>missing	Spastic ataxia 2 [ClinVar]	Yes	ClinVar dbSNP
RCV001864750 RCV002545883 rs150280414	256	D>N	Spastic ataxia 2 Variant assessed as Somatic; MODERATE impact. Inborn genetic diseases [ClinVar, NCI-TCGA]	Yes	ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA8318771 RCV000488299 RCV001085446 RCV001848856 rs146872023	289	Q>P	Hereditary spastic paraplegia Spastic ataxia 2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000871153 RCV002539099 rs145650252 RCV001446098 RCV001847085	295	S>L	Hereditary spastic paraplegia Spastic ataxia 2 Inborn genetic diseases [ClinVar]	Yes	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000824133 rs760721111	300	Y>F	Spastic ataxia 2 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV002538750 rs187228739 RCV001757834	349	R>C	Spastic ataxia 2 [ClinVar]	Yes	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1597846084 RCV001003621 RCV000850202	351	N>missing	Intellectual disability Cerebellar ataxia [ClinVar]	Yes	ClinVar dbSNP
RCV000497507 CA8318865 RCV000516075 rs142056835 RCV001079974 RCV000487792	371	A>T	Hereditary spastic paraplegia Spastic ataxia 2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs367997542 RCV000811319	372	R>Q	Spastic ataxia 2 [ClinVar]	Yes	ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001848958 RCV002292564 CA8318875 rs79290524 RCV000553957	379	A>G	Hereditary spastic paraplegia Spastic ataxia 2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs755935386 RCV001848493 RCV002543406 RCV002543405	400	A>T	Hereditary spastic paraplegia Spastic ataxia 2 Inborn genetic diseases [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV001295488 rs1259655283	421	G>R	Spastic ataxia 2 [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
RCV001973595 rs2143331530	426	S>L	Spastic ataxia 2 [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV001848494 RCV002034763 rs139663513	431	T>M	Hereditary spastic paraplegia Spastic ataxia 2 [ClinVar]	Yes	ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs144939400 RCV001231494	434	Q>H	Spastic ataxia 2 [ClinVar]	Yes	1000Genomes ESP ExAC TOPMed gnomAD ClinVar dbSNP
RCV001452858 rs148619121 RCV002549567 RCV001847121	437	P>L	Hereditary spastic paraplegia Spastic ataxia 2 Inborn genetic diseases [ClinVar]	Yes	ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000699867 rs1567722733	441	M>I	Spastic ataxia 2 [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV001848914 RCV000521926 RCV001321550 CA8318947 rs142046798	449	K>R	Hereditary spastic paraplegia Spastic ataxia 2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV002553098 rs374100485 RCV001759752 RCV001043582	451	I>M	Spastic ataxia 2 Inborn genetic diseases [ClinVar]	Yes	ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001235396 rs759516774 RCV000996458	463	R>C	Spastic ataxia 2 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs1013580197 RCV001948387	540	R>Q	Spastic ataxia 2 [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
RCV001979815 rs764242002	547	R>Q	Spastic ataxia 2 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs1485258329 RCV001848497	554	G>R	Hereditary spastic paraplegia [ClinVar]	Yes	ClinVar dbSNP gnomAD
RCV001871113 rs1371284245	598	N>K	Spastic ataxia 2 [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
rs760659714 RCV002545272 RCV001848498	615	P>L	Hereditary spastic paraplegia Spastic ataxia 2 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs1283601775 RCV000814248	616	G>E	Spastic ataxia 2 [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
RCV001057549 rs1975068657	618	P>S	Spastic ataxia 2 [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs566736417 RCV001172109 RCV001209516	669	R>Q	Spastic ataxia 2 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
CA250364 RCV001847848 RCV000191099 rs148934699 RCV000415815	700	P>L	Hereditary spastic paraplegia Spastic ataxia 2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs138935423 RCV000558940 RCV001081975 CA8319218 RCV001848789	702	T>I	Hereditary spastic paraplegia Spastic ataxia 2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs147429300 RCV002545273 RCV001848501 RCV002545274	719	R>C	Hereditary spastic paraplegia Spastic ataxia 2 Variant assessed as Somatic; MODERATE impact. Inborn genetic diseases [ClinVar, NCI-TCGA]	Yes	ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs587777197 RCV000087323 CA150723	731	R>*	Spastic ataxia 2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs376385209 RCV000821598	739	P>L	Spastic ataxia 2 [ClinVar]	Yes	ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001848502 rs376385209	739	P>R	Hereditary spastic paraplegia [ClinVar]	Yes	ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1453593139 RCV001941167	744	M>T	Spastic ataxia 2 [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
RCV001318630 rs767797244	765	R>C	Spastic ataxia 2 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV000516023 RCV001085955 rs118037269 RCV000645370 CA8319262	767	G>R	Hereditary spastic paraplegia Spastic ataxia 2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs552440254 RCV001915186	768	R>Q	Spastic ataxia 2 Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA]	Yes	ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001212450 rs377528420	789	P>L	Spastic ataxia 2 [ClinVar]	Yes	ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001342537 rs764241869	790	D>N	Spastic ataxia 2 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs1393424251 RCV001238953	793	G>R	Spastic ataxia 2 [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
rs182610831 RCV000807662	810	E>A	Spastic ataxia 2 [ClinVar]	Yes	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001998573 rs776041349	815	A>T	Spastic ataxia 2 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs533724781 RCV002204116	824	G>R	Spastic ataxia 2 [ClinVar]	Yes	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000492986 RCV001267982 CA645369639 rs1131690773	828	A>missing	Spastic ataxia 2 [ClinVar]	Yes	ClinGen ClinVar dbSNP
RCV000645366 CA287186200 rs539082919	829	E>K	Spastic ataxia 2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD
rs780729030 RCV000701825	841	T>M	Spastic ataxia 2 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs767390082 RCV001848503	855	D>E	Hereditary spastic paraplegia [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV001323445 rs372705324	856	R>Q	Spastic ataxia 2 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV000498097 RCV002524080 RCV001848862 CA8319324 rs143671350 RCV000820352	860	A>T	Hereditary spastic paraplegia Spastic ataxia 2 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8319328 RCV003409670 RCV000515870 rs146628704 RCV000809178	864	R>H	Hereditary spastic paraplegia Spastic ataxia 2 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs2143389526 RCV002016143	866	L>H	Spastic ataxia 2 [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs2143392214 RCV001848504	878	H>R	Hereditary spastic paraplegia [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV001339057 rs1297313354	884	E>K	Spastic ataxia 2 [ClinVar]	Yes	ClinVar dbSNP gnomAD
RCV001998608 rs768593463 RCV003355724 RCV002267136	892	P>L	Spastic ataxia 2 Inborn genetic diseases [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs561679213 RCV001848505	892	P>S	Hereditary spastic paraplegia [ClinVar]	Yes	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000692445 rs751072487	901	E>K	Spastic ataxia 2 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV000535949 rs1395728872 CA397317106	904	P>R	Spastic ataxia 2 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000645368 rs758990694 CA8319368	907	R>C	Spastic ataxia 2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA8319370 rs78970955 RCV001848769 RCV000548436 RCV000419762	909	P>Q	Hereditary spastic paraplegia Spastic ataxia 2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
COSM3680509 rs202232792 RCV000191100 RCV000859538 CA250366 RCV000516061	912	R>W	Hereditary spastic paraplegia Spastic ataxia 2 large_intestine [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV002048023 rs2143392621 COSM3519481	914	P>S	Spastic ataxia 2 Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA]	Yes	NCI-TCGA Cosmic ClinVar Ensembl dbSNP
RCV000996459 RCV003160133 rs200436795	917	P>T	Inborn genetic diseases [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs1555571945 CA658658530 RCV000526698	917	P>T	Spastic ataxia 2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001314928 rs200925951	926	R>Q	Spastic ataxia 2 [ClinVar]	Yes	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001338550 rs774901685	940	R>H	Spastic ataxia 2 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
COSM4067838 RCV001848507 rs757104315	960	G>R	Hereditary spastic paraplegia Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA]	Yes	ExAC TOPMed gnomAD NCI-TCGA Cosmic ClinVar NCI-TCGA dbSNP
COSM271765 rs768222656 RCV001767719 RCV002539135	963	R>C	Spastic ataxia 2 Variant assessed as Somatic; MODERATE impact. large_intestine [ClinVar, NCI-TCGA, Cosmic]	Yes	NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs550136320 CA8319435 RCV001350123 RCV001848915 RCV000523662	974	D>N	Hereditary spastic paraplegia Spastic ataxia 2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001848508 rs2143393636	983	S>R	Hereditary spastic paraplegia [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs750130519 RCV001848509	984	N>K	Hereditary spastic paraplegia [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV000700580 rs372031774	984	N>T	Spastic ataxia 2 [ClinVar]	Yes	ClinVar ESP TOPMed dbSNP gnomAD
rs1975146105 RCV001303010	987	H>Q	Spastic ataxia 2 [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs115332491 RCV001848961 RCV000541436 CA8319446 RCV001644654	996	S>N	Hereditary spastic paraplegia Spastic ataxia 2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV002541251 RCV001786869 rs774701979	997	G>R	Spastic ataxia 2 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV003298127 rs267604960 RCV000797956	1000	P>L	Spastic ataxia 2 Inborn genetic diseases [ClinVar]	Yes	ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000808959 COSM1384502 rs143987985	1002	P>L	Spastic ataxia 2 large_intestine [ClinVar, Cosmic]	Yes	cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000876192 rs185185243 RCV001847103	1017	A>T	Hereditary spastic paraplegia Spastic ataxia 2 [ClinVar]	Yes	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001371602 rs2143394246	1017	A>V	Spastic ataxia 2 [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV001763530 rs2143394321 RCV003163854	1020	P>A	Inborn genetic diseases [ClinVar]	Yes	ClinVar Ensembl dbSNP
CA8319471 RCV000551616 rs369620316	1021	P>L	Spastic ataxia 2 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs372792586 RCV001057325	1024	R>*	Variant assessed as Somatic; HIGH impact. Spastic ataxia 2 [NCI-TCGA, ClinVar]	Yes	ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV000525348 RCV001090632 rs141225452 RCV001848791 CA8319474	1024	R>Q	Hereditary spastic paraplegia Spastic ataxia 2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs752457302 RCV002568969 RCV001547661	1027	H>Q	Inborn genetic diseases [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV002544910 RCV001849055 RCV000691418 rs62072492 RCV000996460	1030	R>C	Hereditary spastic paraplegia Spastic ataxia 2 Inborn genetic diseases [ClinVar]	Yes	ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs779584975 RCV000804412	1033	S>F	Spastic ataxia 2 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs201887996 RCV002066442	1041	R>Q	Spastic ataxia 2 [ClinVar]	Yes	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV003166690 RCV001300848 RCV001847234 rs200388087	1041	R>W	Hereditary spastic paraplegia Spastic ataxia 2 Inborn genetic diseases [ClinVar]	Yes	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001952849 rs1199087791	1043	A>T	Spastic ataxia 2 Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA]	Yes	ClinVar NCI-TCGA dbSNP gnomAD
rs373541138 COSM981381 RCV000810755 RCV002538076	1043	A>V	Spastic ataxia 2 Variant assessed as Somatic; MODERATE impact. endometrium Inborn genetic diseases [ClinVar, NCI-TCGA, Cosmic]	Yes	NCI-TCGA Cosmic cosmic curated ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001301486 rs1240123302	1047	Q>R	Spastic ataxia 2 [ClinVar]	Yes	ClinVar TOPMed dbSNP
rs199966544 RCV002000921	1073	P>S	Spastic ataxia 2 [ClinVar]	Yes	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1975155981 RCV001334577	1079	P>H	Spastic ataxia 2 [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV001895778 rs753993722	1080	P>missing	Spastic ataxia 2 [ClinVar]	Yes	ClinVar dbSNP
RCV000953949 RCV000502000 rs201800868 CA8319527	1091	R>H	Spastic ataxia 2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001370717 rs1269241991	1093	A>T	Spastic ataxia 2 [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
RCV001242669 rs1975158981	1098	E>K	Spastic ataxia 2 [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV001049069 rs375445356	1101	A>missing	Spastic ataxia 2 [ClinVar]	Yes	ClinVar dbSNP
RCV001268867 rs1468786988	1	M>I		No	ClinVar dbSNP
rs1974545420	2	A>S		No	TOPMed
rs776032010	3	G>D		No	ExAC TOPMed gnomAD
rs776032010	3	G>V		No	ExAC TOPMed gnomAD
rs776931555	4	A>G		No	ExAC gnomAD
rs769053728	4	A>P		No	ExAC TOPMed gnomAD
rs769053728	4	A>S		No	ExAC TOPMed gnomAD
rs773227449	6	V>L		No	ExAC TOPMed gnomAD
rs773227449	6	V>M		No	ExAC TOPMed gnomAD
rs74766284	7	K>E		No	Ensembl
rs1261572906	8	V>A		No	TOPMed gnomAD
rs1204479297	12	V>I		No	gnomAD
rs1436391935	13	R>Q		No	TOPMed gnomAD
rs776354474	17	A>S		No	ExAC TOPMed gnomAD
rs776354474	17	A>T		No	ExAC TOPMed gnomAD
rs199632760	18	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs756916879	18	R>H		No	ExAC TOPMed gnomAD
rs199632760	18	R>S		No	1000Genomes ExAC TOPMed gnomAD
rs1470002802	19	E>K		No	gnomAD
rs1974548430	20	T>N		No	Ensembl
rs201845629	21	S>G		No	1000Genomes ExAC gnomAD
rs1392900029	21	S>R		No	TOPMed gnomAD
rs745553914	21	S>T		No	ExAC gnomAD
rs200913968	22	Q>*		No	TOPMed gnomAD
rs200913968	22	Q>E		No	TOPMed gnomAD
rs1404468705	23	D>N		No	TOPMed gnomAD
rs757956577	23	D>V		No	ExAC gnomAD
rs1224387824	25	K>R		No	TOPMed gnomAD
rs1250920860	26	C>R		No	gnomAD
rs761316876	27	V>M		No	TOPMed gnomAD
rs1974549703	28	V>G		No	Ensembl
rs1337912749	28	V>I		No	TOPMed gnomAD
rs1974549874	29	S>R		No	Ensembl
TCGA novel	30	M>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1308685223	33	N>T		No	gnomAD
rs1974550375	35	T>N		No	Ensembl
rs2143306396	36	S>C		No	Ensembl
rs1974550575	36	S>P		No	TOPMed
rs1974568326	37	I>N		No	TOPMed
rs751047597	37	I>V		No	ExAC TOPMed gnomAD
rs1974568402	38	I>F		No	Ensembl
rs377337240	38	I>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP NCI-TCGA TOPMed
rs867838488	40	P>L		No	Ensembl
rs905447373	44	K>E		No	TOPMed gnomAD
rs1288378400	45	D>N		No	TOPMed gnomAD
rs1347751013	46	A>V		No	gnomAD
rs1321412412	47	P>L		No	TOPMed gnomAD
rs748695798	47	P>S		No	ExAC gnomAD
rs748695798	47	P>T		No	ExAC gnomAD
rs778176215	49	S>N		No	ExAC TOPMed gnomAD
rs1430555089 COSM981338	49	S>R	endometrium [Cosmic]	No	cosmic curated TOPMed gnomAD
rs575703589	51	T>A		No	1000Genomes ExAC TOPMed gnomAD
rs771071450	51	T>N		No	ExAC gnomAD
rs1258435489	54	Y>C		No	gnomAD
rs1974570020	54	Y>H		No	TOPMed gnomAD
rs1974570301	57	W>C		No	Ensembl
COSM1384495	58	S>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs776684520	59	H>Q		No	ExAC gnomAD
rs555256113	61	S>L		No	1000Genomes ExAC gnomAD
rs1355100100	61	S>P		No	TOPMed
rs762688180	62	T>M		No	ExAC TOPMed gnomAD
rs773096943	62	T>S		No	ExAC
rs773854559	63	E>G		No	ExAC TOPMed gnomAD
rs759293239	64	D>E		No	ExAC gnomAD
rs887921341	65	P>L		No	TOPMed
rs997594436	65	P>S		No	TOPMed gnomAD
rs766946486	68	A>V		No	ExAC gnomAD
COSM417451 rs1186425348	70	Q>*	Variant assessed as Somatic; HIGH impact. urinary_tract [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
rs1376160688	73	V>L		No	gnomAD
rs1376160688	73	V>M		No	gnomAD
rs1282096656	74	Y>S		No	gnomAD
rs201085674	75	R>G		No	1000Genomes ExAC TOPMed gnomAD
rs1224990876	75	R>Q		No	gnomAD
rs1974584015	77	I>V		No	gnomAD
rs1306748912	78	G>R		No	gnomAD
rs1017623562	79	E>K		No	TOPMed
rs747410405	80	E>D		No	ExAC gnomAD
COSM981339	83	L>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1974584605	84	H>Y		No	Ensembl
rs779390411	85	A>T		No	ExAC TOPMed gnomAD
rs746070005	88	G>D		No	ExAC gnomAD
rs1006736815	89	Y>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	Ensembl NCI-TCGA
rs758655441	90	N>D		No	ExAC gnomAD
rs535190367	90	N>K		No	1000Genomes ExAC TOPMed gnomAD
TCGA novel	90	N>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs747110877	91	V>L		No	ExAC TOPMed gnomAD
rs747110877	91	V>M		No	ExAC TOPMed gnomAD
rs1168760173	92	C>Y		No	gnomAD
rs769814577	93	I>M		No	ExAC gnomAD
rs138283031	95	A>T		No	ESP ExAC TOPMed gnomAD
rs1356574441	95	A>V		No	gnomAD
rs749298736	98	Q>H		No	ExAC gnomAD
rs368782086	99	T>S		No	ESP ExAC TOPMed gnomAD
rs1275146785	100	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1974586539	101	A>D		No	Ensembl
rs1370798795	101	A>T		No	gnomAD
rs1974586605 RCV001093145	102	G>A		No	ClinVar Ensembl dbSNP
rs572156268	104	S>Y		No	1000Genomes
rs767179480	106	T>I		No	ExAC TOPMed gnomAD
rs1342553983	106	T>P		No	gnomAD
rs1269729856	108	M>V		No	Ensembl
rs1292427447	109	G>R		No	TOPMed gnomAD
rs774939814	110	R>*		No	ExAC gnomAD
rs1489891485	110	R>Q		No	gnomAD
TCGA novel	111	Q>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs760142761	112	E>K		No	ExAC TOPMed gnomAD
rs763639870	113	P>L		No	ExAC gnomAD
rs1383923359	119	V>A		No	TOPMed gnomAD
rs372339577	119	V>L		No	ESP ExAC TOPMed gnomAD
rs372339577	119	V>M		No	ESP ExAC TOPMed gnomAD
rs1426072494	120	P>S		No	gnomAD
rs1350098672	122	L>F		No	gnomAD
rs1974607924	123	C>*		No	TOPMed
rs369631181	123	C>F		No	ESP ExAC TOPMed gnomAD
rs757101369	125	D>E		No	ExAC TOPMed gnomAD
rs778878542	126	L>F		No	ExAC gnomAD
rs974955088	127	F>L		No	TOPMed
rs1974608417	127	F>L		No	TOPMed
rs150602558	129	R>H		No	1000Genomes ESP ExAC TOPMed gnomAD
rs745851014	129	R>S		No	ExAC TOPMed gnomAD
rs775959015	130	V>F		No	ExAC TOPMed gnomAD
rs775959015	130	V>I		No	ExAC TOPMed gnomAD
rs775959015	130	V>L		No	ExAC TOPMed gnomAD
rs761420923	136	A>V		No	ExAC TOPMed gnomAD
rs769231942	137	Q>P		No	ExAC gnomAD
rs578027417	139	S>C		No	1000Genomes TOPMed gnomAD
rs1974609642 COSM336078	140	Y>H	lung [Cosmic]	No	cosmic curated Ensembl
rs1444228500	142	V>A		No	gnomAD
COSM4930378	142	V>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM3819984	143	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1974619632	144	V>L		No	Ensembl
rs1055603292	145	S>R		No	TOPMed gnomAD
rs200106622	147	M>I		No	ExAC TOPMed gnomAD
rs1268773364	147	M>V		No	TOPMed gnomAD
rs748568140	148	E>*		No	Ensembl
rs756493686	150	Y>C		No	ExAC TOPMed gnomAD
rs1371154380	150	Y>N		No	gnomAD
rs756493686	150	Y>S		No	ExAC TOPMed gnomAD
rs1240181000	151	C>R		No	gnomAD
rs528902778	153	R>L		No	1000Genomes ExAC TOPMed gnomAD
COSM981344 rs528902778	153	R>Q	endometrium [Cosmic]	No	cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs764164742	153	R>W		No	ExAC TOPMed gnomAD
rs1291871672 COSM1318474	155	R>*	haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated TOPMed gnomAD
rs1392886784	155	R>Q		No	TOPMed gnomAD
rs1363516013	158	L>W		No	gnomAD
rs1299067327	161	K>E		No	gnomAD
rs1359365653	161	K>M		No	gnomAD
COSM3712384	161	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
RCV000523836 rs747834094 CA8318584	163	R>Q		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
COSM3519464 rs780907252	163	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA
rs1974621753	164	G>C		No	TOPMed gnomAD
rs755727352	164	G>V		No	ExAC gnomAD
COSM3795815	165	S>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1259197761	168	V>L		No	gnomAD
rs1188956517	169	R>Q		No	gnomAD
TCGA novel	170	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1162917513	170	E>K		No	TOPMed gnomAD
COSM981347	172	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1974622599	173	I>V		No	Ensembl
rs772475828	176	P>Q		No	ExAC TOPMed gnomAD
rs746419418	176	P>S		No	ExAC gnomAD
rs372500741	178	V>L		No	TOPMed gnomAD
rs372500741	178	V>M		No	TOPMed gnomAD
rs764242879	179	Q>R		No	ExAC TOPMed gnomAD
rs1382440375	180	D>N		No	gnomAD
rs1974623326	183	K>R		No	TOPMed
rs776654657	186	V>A		No	ExAC gnomAD
rs777596594	188	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed
COSM4067813 rs1204108834	189	Y>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed
rs1204108834	189	Y>S		No	TOPMed
rs752855724	190	A>S		No	ExAC TOPMed gnomAD
rs1330790473	193	A>V		No	TOPMed gnomAD
rs1974624406	196	M>I		No	TOPMed
rs767276837	196	M>R		No	ExAC gnomAD
rs767276837	196	M>T		No	ExAC gnomAD
rs558474743	196	M>V		No	gnomAD
rs748880540	197	D>N		No	TOPMed
TCGA novel	199	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1183578623	200	N>H		No	gnomAD
rs1256771819	200	N>S		No	gnomAD
rs755749267	203	R>Q		No	ExAC TOPMed gnomAD
rs1974624895	203	R>W		No	TOPMed
rs1974628193	206	A>G		No	Ensembl
rs781604565	207	A>V		No	ExAC gnomAD
rs938481858	210	M>L		No	TOPMed gnomAD
rs938481858	210	M>V		No	TOPMed gnomAD
rs748307324	211	N>S		No	ExAC TOPMed gnomAD
rs1974628533	212	E>*		No	TOPMed
rs770019961	212	E>A		No	ExAC TOPMed gnomAD
rs770019961	212	E>G		No	ExAC TOPMed gnomAD
rs1226149924	214	S>T		No	gnomAD
rs199548525	215	S>N		No	1000Genomes ESP ExAC TOPMed gnomAD
rs915801478	216	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed
rs760757050	220	V>I		No	ExAC gnomAD
rs1974629429	222	T>I		No	gnomAD
rs1597842237	222	T>P		No	Ensembl
rs1974629484	223	I>V		No	Ensembl
rs776580434	224	V>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1974629852	227	Q>H		No	Ensembl
rs764827083	227	Q>R		No	ExAC gnomAD
rs142513387	228	R>H		No	ESP ExAC TOPMed gnomAD
COSM4067814	229	C>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs370106692	229	C>G		No	ESP ExAC TOPMed gnomAD
rs370106692	229	C>R		No	ESP ExAC TOPMed gnomAD
rs1301993103	229	C>Y		No	gnomAD
rs755485274	230	H>R		No	ExAC gnomAD
rs1597842271	230	H>Y		No	TOPMed gnomAD
rs1293728035	231	D>E		No	gnomAD
rs1394933073	231	D>H		No	TOPMed gnomAD
rs1974630903	235	G>A		No	TOPMed
rs1974630903	235	G>E		No	TOPMed
rs201464566	237	D>G		No	1000Genomes
COSM3370808 rs777832656	238	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs756742766	238	S>T		No	Ensembl
rs2143317729	241	V>I		No	1000Genomes
rs1974657114	242	S>G		No	gnomAD
rs917561706	243	K>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs750671441	243	K>T		No	ExAC gnomAD
rs1370070467	245	S>G		No	TOPMed gnomAD
rs1974657646	250	A>G		No	Ensembl
rs1408072376	252	S>N		No	TOPMed gnomAD
rs780225611	254	R>Q		No	ExAC TOPMed gnomAD
rs751686969	255	A>G		No	ExAC TOPMed gnomAD
rs749235969	256	D>E		No	ExAC gnomAD
rs903875496 COSM706867	257	S>F	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
rs770752941	258	S>A		No	ExAC TOPMed gnomAD
rs1974658621	258	S>L		No	TOPMed gnomAD
rs1974658971	259	G>A		No	Ensembl
rs1974658852	259	G>R		No	TOPMed
rs1974659029	260	A>S		No	Ensembl
rs778681371	261	R>G		No	ExAC gnomAD
rs745461601	261	R>P		No	ExAC gnomAD
rs745461601	261	R>Q		No	ExAC gnomAD
rs778681371	261	R>W		No	ExAC gnomAD
COSM436922	262	G>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1303501499	262	G>V		No	TOPMed gnomAD
rs755067749	263	M>I		No	Ensembl
RCV002211382 rs557126775	264	R>C		No	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs774939825	264	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs774939825	264	R>L		No	ExAC TOPMed gnomAD
rs774939825	264	R>P		No	ExAC TOPMed gnomAD
rs1974659626	266	K>Q		No	TOPMed gnomAD
rs908801559	269	A>T		No	TOPMed
rs776012115	269	A>V		No	ExAC gnomAD
rs1437960066	270	N>S		No	TOPMed gnomAD
rs1296881328	271	I>M		No	TOPMed gnomAD
rs1974664265	271	I>T		No	Ensembl
rs1974664200	271	I>V		No	Ensembl
COSM3519467	272	N>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs939497458	272	N>S		No	TOPMed gnomAD
rs1974664611	276	T>I		No	Ensembl
rs1356614549	277	T>A		No	TOPMed gnomAD
rs770447158	277	T>I		No	ExAC TOPMed gnomAD
rs1974665003	278	L>P		No	gnomAD
rs1974665119	280	K>R		No	Ensembl
TCGA novel	281	V>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1185527775	283	S>L		No	gnomAD
rs368151227	284	A>T		No	ESP ExAC TOPMed gnomAD
rs1457719530	284	A>V		No	gnomAD
rs1205063803	286	A>T		No	TOPMed gnomAD
rs1974665992	287	D>E		No	Ensembl
rs1974665884	287	D>N		No	Ensembl
rs1974665946	287	D>V		No	Ensembl
rs1974667785	290	S>P		No	Ensembl
rs771325468	293	R>*		No	ExAC TOPMed gnomAD
rs774589252	293	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs775821474	299	P>A		No	ExAC TOPMed gnomAD
rs2143319943	299	P>L		No	1000Genomes
COSM4901539	299	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs760721111	300	Y>C		No	ExAC TOPMed gnomAD
rs1974668508	302	D>N		No	TOPMed
rs1974668646	304	V>L		No	TOPMed
rs2143320136	313	L>F		No	Ensembl
COSM161974 rs758685066	314	G>A	breast [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs758685066	314	G>V		No	ExAC TOPMed gnomAD
rs2143323281	315	G>E		No	Ensembl
rs376963307	316	N>I		No	ESP ExAC TOPMed gnomAD
rs376963307	316	N>S		No	ESP ExAC TOPMed gnomAD
rs138321138	318	R>C		No	ESP ExAC TOPMed gnomAD
rs138321138	318	R>G		No	ESP ExAC TOPMed gnomAD
rs776654539	318	R>H		No	ExAC TOPMed gnomAD
rs138321138	318	R>S		No	ESP ExAC TOPMed gnomAD
rs76817927	319	T>P		No	Ensembl
rs748146702	321	M>V		No	ExAC TOPMed gnomAD
rs1391848908	322	I>T		No	gnomAD
rs769968364	323	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs1974682451	325	L>M		No	gnomAD
rs1324096379	329	D>V		No	TOPMed
rs1597845594	330	I>S		No	Ensembl
rs1974682710	330	I>V		No	gnomAD
rs767357962	331	N>S		No	1000Genomes ExAC gnomAD
rs1567721495	336	L>R		No	Ensembl
rs373741991	336	L>V		No	ESP ExAC TOPMed gnomAD
rs756706873	337	S>C		No	ExAC TOPMed gnomAD
rs756706873	337	S>G		No	ExAC TOPMed gnomAD
rs1597845632	337	S>R		No	Ensembl
rs1332090479	340	R>S		No	gnomAD
rs1974689636	341	Y>C		No	TOPMed
rs1472804058	342	A>P		No	gnomAD
rs1467789736	343	D>N		No	TOPMed gnomAD
rs370727070	344	R>C		No	ESP ExAC TOPMed gnomAD
rs370727070	344	R>G		No	ESP ExAC TOPMed gnomAD
COSM706864 rs539953623	344	R>H	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs755325968	345	T>A		No	ExAC gnomAD
rs781606691	346	K>R		No	ExAC gnomAD
rs1974690294	347	Q>*		No	Ensembl
rs965335718	349	R>H		No	TOPMed gnomAD
rs187228739	349	R>S		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1974690692 RCV001268296	350	C>missing		No	ClinVar dbSNP
rs148307470	350	C>Y		No	ESP TOPMed gnomAD
rs777671002	351	N>D		No	ExAC TOPMed gnomAD
rs1210999379	351	N>S		No	gnomAD
rs749352816	353	I>L		No	ExAC gnomAD
rs749352816	353	I>V		No	ExAC gnomAD
rs771180950	354	I>T		No	ExAC gnomAD
rs1183475749	354	I>V		No	TOPMed gnomAD
rs747008418	356	E>G		No	ExAC gnomAD
rs1396825705	357	D>H		No	gnomAD
rs1435186505	358	P>R		No	gnomAD
rs1974691442	358	P>S		No	Ensembl
rs2143324699	359	N>S		No	Ensembl
rs921300827	360	A>D		No	TOPMed gnomAD
rs768497069	360	A>T		No	ExAC TOPMed gnomAD
rs761322983	361	R>L		No	ExAC TOPMed gnomAD
rs761322983	361	R>Q		No	ExAC TOPMed gnomAD
rs776499585	361	R>W		No	ExAC TOPMed gnomAD
rs142056835	371	A>S		No	1000Genomes ESP ExAC TOPMed gnomAD
rs201287076 RCV000513474 CA8318866	372	R>W		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1450624792	374	R>Q		No	TOPMed gnomAD
rs764691825	374	R>W		No	ExAC TOPMed gnomAD
rs150594020	375	E>K		No	ESP ExAC TOPMed gnomAD
rs753131759	376	L>V		No	ExAC TOPMed gnomAD
rs778030228	378	M>I		No	ExAC TOPMed gnomAD
COSM3819987	381	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs867611760	383	S>P		No	Ensembl
rs1974693477	384	A>S		No	TOPMed gnomAD
rs368324220	384	A>V		No	Ensembl
rs2143325089	385	S>F		No	Ensembl
rs1045112397	388	E>A		No	TOPMed gnomAD
rs1045112397	388	E>G		No	TOPMed gnomAD
rs367987211	389	G>V		No	ESP ExAC TOPMed gnomAD
rs1974747638	392	T>A		No	TOPMed
rs775831145 COSM3787374	392	T>M	pancreas [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs781167716	393	E>D		No	ExAC TOPMed gnomAD
rs755935386	400	A>S		No	ExAC TOPMed gnomAD
rs777437767	401	L>V		No	ExAC gnomAD
rs748884069	403	A>S		No	ExAC gnomAD
rs748884069	403	A>T		No	ExAC gnomAD
rs371688297	403	A>V		No	ESP TOPMed gnomAD
rs770596601	404	V>M		No	ExAC gnomAD
rs773814610	406	S>F		No	ExAC TOPMed gnomAD
rs773814610	406	S>Y		No	ExAC TOPMed gnomAD
rs1194761969	407	P>S		No	TOPMed gnomAD
rs2143331334	408	P>R		No	Ensembl
rs1240822680	411	V>I		No	TOPMed
rs1304629667	412	S>A		No	TOPMed gnomAD
rs1287537384	412	S>L		No	TOPMed gnomAD
rs1974748952	413	P>L		No	TOPMed gnomAD
rs1974748897	413	P>S		No	Ensembl
rs745355114	414	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs558102986	416	P>L		No	1000Genomes ExAC gnomAD
rs1347324446	417	T>A		No	gnomAD
rs1377147448	417	T>N		No	TOPMed
TCGA novel	418	T>H	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs776056933	418	T>I		No	ExAC gnomAD
rs1974749459	419	H>N		No	TOPMed
rs2033017181	420	N>Y		No	TOPMed
rs761088146	422	E>K		No	ExAC gnomAD
rs571542781	423	L>P		No	1000Genomes ExAC gnomAD
rs1034923851	423	L>V		No	TOPMed gnomAD
rs1466254443	424	E>D		No	Ensembl
rs1183237957	424	E>K		No	TOPMed gnomAD
rs1183237957	424	E>Q		No	TOPMed gnomAD
rs990768881	425	P>L		No	TOPMed gnomAD
rs1307896810	425	P>S		No	TOPMed gnomAD
TCGA novel rs1974750180	427	F>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	Ensembl NCI-TCGA
rs1175011174	427	F>Y		No	gnomAD
rs750724414	428	S>C		No	ExAC TOPMed gnomAD
rs750724414	428	S>F		No	ExAC TOPMed gnomAD
rs765525997	428	S>P		No	ExAC TOPMed
rs905730505	429	P>H		No	TOPMed gnomAD
rs905730505	429	P>R		No	TOPMed gnomAD
rs752616609	429	P>S		No	ExAC TOPMed gnomAD
rs777498924	430	N>S		No	ExAC gnomAD
rs777498924	430	N>T		No	ExAC gnomAD
rs2143331623	433	S>P		No	Ensembl
rs1282621759	433	S>Y		No	gnomAD
rs747499692	438	E>K		No	ExAC TOPMed gnomAD
rs1178143401	439	E>K		No	gnomAD
rs1974751372	439	E>V		No	Ensembl
rs371522240	440	A>T		No	ESP ExAC TOPMed gnomAD
rs777318222	441	M>R		No	ExAC gnomAD
rs777318222 COSM4067831	441	M>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC gnomAD
rs1974751495	441	M>V		No	Ensembl
rs1395201005	445	Q>*		No	gnomAD
rs1395201005	445	Q>E		No	gnomAD
rs1448349099	445	Q>P		No	gnomAD
rs1974757510	448	E>K		No	TOPMed
rs1597849827	449	K>E		No	Ensembl
rs1287212818	450	I>F		No	gnomAD
rs746470176	451	I>V		No	ExAC gnomAD
COSM706862	452	A>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1292901745	452	A>T		No	gnomAD
TCGA novel	452	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs748733484	453	E>Q		No	ExAC gnomAD
rs770218338	454	L>M		No	ExAC gnomAD
rs377105023	454	L>P		No	ESP ExAC gnomAD
rs1974758424 COSM1384497	456	E>K	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated gnomAD
rs771093765	457	T>I		No	ExAC TOPMed gnomAD
rs1186849916	458	W>*		No	gnomAD
rs774678551	458	W>R		No	ExAC gnomAD
rs1974758703	460	E>K		No	gnomAD
rs942506591	461	K>R		No	Ensembl
rs1974758845	462	L>P		No	TOPMed gnomAD
rs767647581	463	R>H		No	ExAC TOPMed gnomAD
rs1406913083	467	A>S		No	gnomAD
rs1406913083	467	A>T		No	gnomAD
rs1974759135	467	A>V		No	TOPMed
rs1435658114	477	A>T		No	TOPMed gnomAD
rs1974762742	478	E>*		No	TOPMed gnomAD
rs1974762795	479	M>I		No	TOPMed
COSM1303051	480	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1597850194	481	V>G		No	Ensembl
rs146881155	483	V>I		No	ESP ExAC TOPMed gnomAD
TCGA novel	483	V>S	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs374701430	484	R>L		No	ESP ExAC TOPMed gnomAD
rs374701430	484	R>Q		No	ESP ExAC TOPMed gnomAD
rs571606260	484	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs200862583	485	E>A		No	1000Genomes ExAC TOPMed gnomAD
rs1173171673	486	D>G		No	gnomAD
rs1173171673	486	D>V		No	gnomAD
rs1396041841	488	G>A		No	gnomAD
rs1396041841	488	G>E		No	gnomAD
rs1597850230	489	T>S		No	Ensembl
rs772309791	490	V>M		No	ExAC gnomAD
rs1440871070	491	G>S		No	gnomAD
rs368199251	492	V>I		No	ESP ExAC TOPMed gnomAD
rs1234402013	493	F>L		No	gnomAD
rs1484270853	496	K>R		No	TOPMed gnomAD
rs1974764016	497	K>M		No	TOPMed
rs1974912700	498	T>S		No	TOPMed
rs1974912754 TCGA novel	499	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs763492867	500	H>N		No	ExAC TOPMed gnomAD
TCGA novel	500	H>T	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs763492867	500	H>Y		No	ExAC TOPMed gnomAD
rs1382210749	501	L>P		No	gnomAD
rs1974912956	501	L>V		No	TOPMed
rs1383423752	502	V>L		No	gnomAD
rs140692517	508	P>H		No	ESP TOPMed gnomAD
rs140692517	508	P>L		No	ESP TOPMed gnomAD
rs761261999	508	P>S		No	ExAC gnomAD
rs535557199	509	L>P		No	1000Genomes ExAC gnomAD
rs1175360051	510	M>I		No	TOPMed gnomAD
rs1340812836	511	S>T		No	gnomAD
rs1974913538	513	C>Y		No	Ensembl
COSM3742321 rs750941844	515	L>F	liver [Cosmic]	No	cosmic curated ExAC gnomAD
rs758695684	520	D>A		No	ExAC TOPMed gnomAD
rs758695684	520	D>G		No	ExAC TOPMed gnomAD
rs1265302907	521	G>D		No	TOPMed
rs1206981630	522	V>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1974914280	523	T>N		No	Ensembl
rs1597855807	523	T>P		No	Ensembl
rs747822842	526	G>S		No	ExAC TOPMed gnomAD
rs769279948	527	Q>R		No	ExAC gnomAD
rs771984501	530	M>K		No	ExAC TOPMed gnomAD
rs771984501	530	M>R		No	ExAC TOPMed gnomAD
rs771984501	530	M>T		No	ExAC TOPMed gnomAD
rs900236276	530	M>V		No	TOPMed gnomAD
rs1974936394	532	I>M		No	TOPMed gnomAD
rs1049225304	533	K>M		No	TOPMed gnomAD
rs1049225304	533	K>R		No	TOPMed gnomAD
rs1049225304	533	K>T		No	TOPMed gnomAD
rs766830103	535	T>I		No	ExAC gnomAD
RCV001760811 rs960973563	536	G>A		No	ClinVar dbSNP gnomAD
rs960973563	536	G>E		No	gnomAD
rs759883791	536	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs1974936822	537	Q>H		No	TOPMed
rs775303966	538	F>L		No	gnomAD
rs752955920	540	R>W		No	ExAC TOPMed gnomAD
rs1374652943	541	E>D		No	gnomAD
rs1465937783	542	Q>*		No	gnomAD
TCGA novel	543	H>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1442946036	544	C>F		No	gnomAD
rs764242002	547	R>L		No	ExAC TOPMed gnomAD
rs146618482	547	R>W		No	ESP ExAC TOPMed gnomAD
rs1381930434	549	I>T		No	gnomAD
rs2143358695	549	I>V		No	Ensembl
rs1320196641	550	P>R		No	TOPMed gnomAD
rs753932855	550	P>T		No	ExAC gnomAD
TCGA novel	551	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1219641121	551	Q>H		No	gnomAD
rs757438747	552	P>R		No	ExAC TOPMed gnomAD
rs746926292	553	D>H		No	ExAC gnomAD
rs754799167	553	D>V		No	ExAC gnomAD
rs1374089924	557	V>L		No	TOPMed gnomAD
rs1975054803	559	T>S		No	TOPMed
rs1373271554	562	P>L		No	gnomAD
RCV001767246 rs1285088031	562	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinVar NCI-TCGA TOPMed dbSNP gnomAD
rs777770224	563	C>Y		No	Ensembl
rs150226133	565	G>E		No	ESP ExAC TOPMed gnomAD
rs199563353	565	G>R		No	1000Genomes ExAC TOPMed gnomAD
rs1975055352	568	T>A		No	gnomAD
rs1975055352	568	T>S		No	gnomAD
TCGA novel	569	Y>C	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1210596198	570	V>A		No	gnomAD
rs1443717935	570	V>M		No	gnomAD
rs1232044119	571	N>Y		No	gnomAD
rs370888080	576	T>M		No	ESP ExAC TOPMed gnomAD
rs770419005	577	E>D		No	ExAC TOPMed gnomAD
rs1423334662	578	P>L		No	TOPMed gnomAD
rs1423334662	578	P>Q		No	TOPMed gnomAD
rs1258390004	578	P>S		No	gnomAD
rs1258390004	578	P>T		No	gnomAD
rs557132499	579	L>Q		No	1000Genomes ExAC TOPMed gnomAD
rs557132499	579	L>R		No	1000Genomes ExAC TOPMed gnomAD
rs1597861664	580	V>G		No	Ensembl
rs1975056596	584	G>R		No	TOPMed
rs1204560902	586	R>S		No	TOPMed gnomAD
COSM4917718	591	K>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs745324466	594	V>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
COSM1384498 rs771628064	596	R>C	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD
rs780359535	596	R>H		No	ExAC TOPMed gnomAD
rs1241749143	597	F>L		No	gnomAD
rs1476940480	600	P>L		No	TOPMed gnomAD
rs1975066273	603	A>G		No	TOPMed
rs1975066199	603	A>T		No	TOPMed
rs1161974448	607	R>Q		No	gnomAD
rs762096055	607	R>W		No	ExAC TOPMed gnomAD
rs1405460222	609	R>G		No	gnomAD
rs773503454	609	R>L		No	ExAC TOPMed gnomAD
rs773503454	609	R>Q		No	ExAC TOPMed gnomAD
rs762882623	611	V>G		No	ExAC gnomAD
rs566159956	612	P>L		No	1000Genomes ExAC TOPMed gnomAD
rs1975067542	612	P>S		No	gnomAD
COSM3193307	613	P>H	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1597862088	613	P>R		No	Ensembl
rs944512777	614	P>L		No	TOPMed gnomAD
rs1356876702	614	P>T		No	gnomAD
rs1195837794	615	P>T		No	TOPMed gnomAD
COSM179043 rs1487454027	617	P>L	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	cosmic curated NCI-TCGA TOPMed gnomAD
rs1487454027	617	P>Q		No	TOPMed gnomAD
rs753593337	618	P>L		No	ExAC TOPMed gnomAD
rs1567727743	622	V>G		No	Ensembl
COSM473041 rs2143380778	623	D>N	kidney Variant assessed as Somatic; MODERATE impact. large_intestine [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated Ensembl
TCGA novel	624	W>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM981363	628	Q>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs374353519	629	K>R		No	ESP ExAC gnomAD
rs2143380819	630	E>G		No	Ensembl
rs149354055	631	L>M		No	ESP ExAC TOPMed gnomAD
rs1975069539 COSM3519479	633	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic TOPMed
rs943680163	635	Q>E		No	TOPMed gnomAD
rs1975069700	636	G>D		No	TOPMed gnomAD
rs1304665405	638	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs755583443	641	L>M		No	ExAC TOPMed gnomAD
TCGA novel	641	L>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs748412191	645	K>N		No	ExAC gnomAD
rs1394085981	646	R>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1975074136	647	L>P		No	Ensembl
rs766079602	649	D>E		No	ExAC gnomAD
rs1332170518	649	D>G		No	gnomAD
rs751270593	651	E>A		No	ExAC gnomAD
rs751270593	651	E>G		No	ExAC gnomAD
rs1385381479	651	E>K		No	gnomAD
rs1331843012	652	N>D		No	gnomAD
rs932121492	654	Y>H		No	Ensembl
rs1320673365	655	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs753129039	655	R>W		No	ExAC TOPMed gnomAD
COSM1610483 rs1199796606	656	K>E	liver [Cosmic]	No	cosmic curated gnomAD
rs1264412952	657	E>D		No	gnomAD
rs756691035	659	E>K		No	ExAC TOPMed gnomAD
rs199538708	660	E>K		No	ExAC gnomAD
rs943732493	661	A>V		No	TOPMed
rs866317638	662	D>H		No	TOPMed gnomAD
rs866317638	662	D>N		No	TOPMed gnomAD
rs866317638	662	D>Y		No	TOPMed gnomAD
rs60007010	663	L>F		No	Ensembl
rs754186279	664	L>R		No	ExAC TOPMed gnomAD
RCV001814415 rs2143382149	666	E>*		No	ClinVar Ensembl dbSNP
rs1975075520	666	E>D		No	gnomAD
rs1466117948	666	E>G		No	gnomAD
rs1466117948	666	E>V		No	gnomAD
rs1347985608	668	Q>H		No	gnomAD
rs1567727901	668	Q>R		No	Ensembl
rs1456471745	669	R>*		No	TOPMed gnomAD
rs1237589868	671	Y>C		No	gnomAD
rs1352308943	671	Y>H		No	gnomAD
rs1290636190	672	A>V		No	TOPMed gnomAD
rs757618663	674	S>L		No	ExAC TOPMed gnomAD
rs757618663	674	S>W		No	ExAC TOPMed gnomAD
rs1399120250	676	S>N		No	TOPMed gnomAD
rs1381514125	677	G>A		No	TOPMed
rs1381514125	677	G>E		No	TOPMed
rs1235493761	677	G>R		No	TOPMed gnomAD
rs1235493761	677	G>W		No	TOPMed gnomAD
rs551884040	678	D>H		No	1000Genomes ExAC TOPMed gnomAD
rs551884040	678	D>N		No	1000Genomes ExAC TOPMed gnomAD
rs551884040	678	D>Y		No	1000Genomes ExAC TOPMed gnomAD
rs768630780	683	R>C		No	ExAC TOPMed gnomAD
COSM1679413 rs1002320182	683	R>H	haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated TOPMed gnomAD
rs777697918	684	S>A		No	ExAC TOPMed gnomAD
rs777697918	684	S>P		No	ExAC TOPMed gnomAD
rs777697918	684	S>T		No	ExAC TOPMed gnomAD
rs976760309	684	S>Y		No	TOPMed gnomAD
rs1401462041	685	C>S		No	gnomAD
rs1333966276	687	E>D		No	TOPMed gnomAD
rs1163238446	687	E>G		No	TOPMed gnomAD
rs1975103366	688	S>G		No	gnomAD
rs1392339428	689	W>*		No	TOPMed gnomAD
COSM3378252 rs749304445	689	W>R	upper_aerodigestive_tract pancreas [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs2143386971	692	I>M		No	Ensembl
rs1168790116	692	I>T		No	TOPMed gnomAD
rs532735917	693	S>F		No	Ensembl
rs770835360	694	S>F		No	ExAC gnomAD
rs1426525617	695	L>F		No	TOPMed
rs759229352	696	R>Q		No	ExAC TOPMed gnomAD
rs756143565	696	R>W		No	ExAC TOPMed gnomAD
rs771713573	698	Q>E		No	ExAC TOPMed gnomAD
rs771713573	698	Q>K		No	ExAC TOPMed gnomAD
rs775022402	698	Q>R		No	ExAC gnomAD
rs1975104234	701	P>H		No	Ensembl
rs142944883	703	T>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs142944883	703	T>R		No	ESP ExAC TOPMed gnomAD
rs758785693	704	V>I		No	ExAC gnomAD
rs946593293	707	I>T		No	TOPMed gnomAD
rs1975104828	707	I>V		No	TOPMed
rs766563607	710	R>C		No	ExAC TOPMed gnomAD
rs904984161	710	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs766563607	710	R>S		No	ExAC TOPMed gnomAD
rs1975105524	713	L>P		No	TOPMed gnomAD
rs1975105753	717	G>S		No	Ensembl
rs1416519198	718	K>N		No	gnomAD
rs749212413	718	K>R		No	ExAC
rs147429300	719	R>G		No	ESP ExAC TOPMed gnomAD
rs779022340	719	R>H		No	ExAC TOPMed gnomAD
rs1975106276	720	R>G		No	Ensembl
rs745607170	721	A>T		No	ExAC gnomAD
rs771770679	721	A>V		No	ExAC gnomAD
rs1435397417	722	P>T		No	gnomAD
rs375660983	723	R>C		No	ESP ExAC TOPMed gnomAD
rs139701770	723	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1257145521	724	R>G		No	TOPMed gnomAD
rs1316030701	724	R>S		No	gnomAD
rs1479170495	724	R>T		No	Ensembl
rs1257145521	724	R>W		No	TOPMed gnomAD
rs993547611	725	V>F		No	TOPMed gnomAD
rs993547611	725	V>I		No	TOPMed gnomAD
rs761344460	726	Y>C		No	ExAC gnomAD
rs1200427899	726	Y>H		No	gnomAD
rs1198164297	727	Q>P		No	gnomAD
rs369357478	728	I>M		No	ESP ExAC TOPMed gnomAD
rs763310157	731	R>Q		No	ExAC TOPMed gnomAD
rs779215813	732	R>C		No	gnomAD
rs766718357	732	R>H		No	ExAC TOPMed gnomAD
rs1397753368	734	L>Q		No	gnomAD
rs1404259115	736	G>C		No	TOPMed gnomAD
rs1975107934	737	K>N		No	Ensembl
rs371774970	737	K>R		No	ESP ExAC gnomAD
rs755203770	738	D>E		No	ExAC gnomAD
rs1405143174	739	P>S		No	gnomAD
rs752781012	740	R>C		No	ExAC TOPMed gnomAD
rs752781012	740	R>G		No	ExAC TOPMed gnomAD
rs756282892	740	R>H		No	ExAC gnomAD
RCV001268849 rs1975108349	741	W>*		No	ClinVar Ensembl dbSNP
rs745870744	742	A>G		No	ExAC TOPMed gnomAD
rs758203086	743	T>A		No	ExAC gnomAD
TCGA novel rs1975108575	744	M>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed
rs1975108662	745	A>S		No	TOPMed
rs746643030	745	A>V		No	ExAC gnomAD
rs1975108850	747	L>P		No	TOPMed gnomAD
rs1975108953	750	Q>R		No	TOPMed
rs1374164959	751	A>T		No	gnomAD
rs1472733846	751	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs371464539	754	E>D		No	ESP ExAC TOPMed gnomAD
rs1975109202	754	E>Q		No	TOPMed
rs763427425	758	E>K		No	ExAC TOPMed gnomAD
rs763427425	758	E>Q		No	ExAC TOPMed gnomAD
rs1318684253	760	A>V		No	TOPMed gnomAD
rs573302051	761	L>M		No	1000Genomes ExAC TOPMed gnomAD
rs573302051	761	L>V		No	1000Genomes ExAC TOPMed gnomAD
rs1597864117	763	D>A		No	Ensembl
rs1246720031	764	F>L		No	TOPMed gnomAD
rs1361676959	764	F>V		No	gnomAD
rs767797244	765	R>G		No	ExAC TOPMed gnomAD
rs1487403605	765	R>H		No	TOPMed gnomAD
rs1597864152	767	G>E		No	TOPMed
rs575805660	768	R>W		No	1000Genomes ExAC TOPMed gnomAD
rs1369760038	770	E>K		No	gnomAD
rs780072767	772	E>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs369289976	773	A>D		No	ESP ExAC TOPMed gnomAD
rs376569688	773	A>T		No	ESP ExAC TOPMed gnomAD
rs780757171	774	L>V		No	ExAC TOPMed gnomAD
rs117621046	776	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes NCI-TCGA TOPMed gnomAD
rs1453502889	777	L>F		No	gnomAD
rs1453502889	777	L>I		No	gnomAD
COSM4834642	778	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs988526971	779	M>I		No	TOPMed
rs1975111346	779	M>T		No	Ensembl
rs199782010	780	R>G		No	ESP ExAC TOPMed gnomAD
rs749770926	780	R>Q		No	ExAC TOPMed gnomAD
rs199782010	780	R>W		No	ESP ExAC TOPMed gnomAD
rs1344742800	781	E>D		No	gnomAD
rs1199019425	783	C>Y		No	gnomAD
rs771298564	784	R>C		No	ExAC TOPMed gnomAD
rs771298564	784	R>G		No	ExAC TOPMed gnomAD
COSM981375 rs774940396	784	R>H	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs2087644436	785	T>I		No	TOPMed gnomAD
rs1441229659	786	Y>C		No	TOPMed gnomAD
rs772567048	787	G>A		No	ExAC gnomAD
rs772567048	787	G>D		No	ExAC gnomAD
rs1182080806	787	G>S		No	gnomAD
rs980675901	789	P>S		No	TOPMed
TCGA novel	790	D>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs540945645	791	G>S		No	1000Genomes ExAC TOPMed gnomAD
rs2143388362	792	P>A		No	Ensembl
rs1248555798	792	P>R		No	TOPMed gnomAD
TCGA novel	792	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2143388406	793	G>A		No	Ensembl
rs186917988	794	D>E		No	1000Genomes ExAC TOPMed gnomAD
rs1975112790	794	D>V		No	TOPMed
rs190022215	795	A>S		No	1000Genomes ExAC TOPMed gnomAD
rs190022215	795	A>T		No	1000Genomes ExAC TOPMed gnomAD
rs551749680	797	R>K		No	1000Genomes gnomAD
rs1324951439	798	A>T		No	gnomAD
rs1255684775	799	V>L		No	gnomAD
rs1195813496	801	R>G		No	TOPMed gnomAD
rs746521760	801	R>L		No	ExAC TOPMed gnomAD
rs746521760	801	R>Q		No	ExAC TOPMed gnomAD
rs1195813496	801	R>W		No	TOPMed gnomAD
rs1975113669	803	V>I		No	TOPMed
rs777508180	805	D>E		No	ExAC TOPMed gnomAD
rs1200786787	805	D>N		No	gnomAD
TCGA novel	806	T>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1477487835	807	V>I		No	TOPMed gnomAD
rs1477487835	807	V>L		No	TOPMed gnomAD
rs201219607	809	E>K		No	1000Genomes ExAC TOPMed gnomAD
rs201219607	809	E>Q		No	1000Genomes ExAC TOPMed gnomAD
rs1298767713	810	E>D		No	gnomAD
rs182610831	810	E>G		No	1000Genomes ExAC TOPMed gnomAD
rs779219604	810	E>K		No	ExAC TOPMed gnomAD
rs1390325462	811	E>K		No	TOPMed gnomAD
rs1385288886	812	G>E		No	TOPMed gnomAD
rs1975114855	812	G>R		No	TOPMed
rs1975115166	813	G>D		No	Ensembl
rs1415223968	813	G>S		No	TOPMed gnomAD
rs2143388712	814	G>R		No	Ensembl
TCGA novel	816	G>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs747413228	816	G>S		No	ExAC gnomAD
rs956991329	817	S>C		No	TOPMed
rs1975115825	817	S>I		No	Ensembl
rs1309728888	817	S>R		No	gnomAD
rs568266722	818	G>A		No	1000Genomes ExAC gnomAD
rs1597864446	821	S>R		No	Ensembl
rs1264319328	821	S>T		No	gnomAD
rs1487328639	822	E>K		No	gnomAD
rs1269418400	823	E>K		No	gnomAD
rs547704394	825	A>T		No	1000Genomes TOPMed gnomAD
rs1425712894	826	R>*		No	TOPMed gnomAD
rs1425712894	826	R>G		No	TOPMed gnomAD
rs761733935	826	R>Q		No	ExAC gnomAD
COSM1384500	827	G>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	828	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1367955935	828	A>V		No	TOPMed gnomAD
rs558996508	829	E>G		No	1000Genomes ExAC TOPMed gnomAD
rs1597864516	830	V>G		No	Ensembl
rs767267650	831	E>D		No	ExAC gnomAD
rs1364751336	833	L>F		No	TOPMed gnomAD
rs776267022	834	R>Q		No	TOPMed gnomAD
COSM5055603 rs575669774	834	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA gnomAD
rs763591946	835	A>V		No	ExAC gnomAD
rs756714924	836	H>Y		No	ExAC TOPMed gnomAD
rs778537068	837	I>V		No	ExAC gnomAD
rs139084469	838	D>H		No	1000Genomes ESP ExAC TOPMed gnomAD
rs139084469	838	D>N		No	1000Genomes ESP ExAC TOPMed gnomAD
rs139084469	838	D>Y		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1181207786	839	K>R		No	TOPMed gnomAD
rs776716271	842	G>E		No	ExAC TOPMed gnomAD
rs769148587	842	G>R		No	ExAC TOPMed gnomAD
rs1975119152	843	I>F		No	Ensembl
rs1173153721	845	Q>K		No	TOPMed gnomAD
rs1415492201	845	Q>R		No	gnomAD
rs769739540	846	E>D		No	ExAC gnomAD
rs1314947427	847	V>A		No	gnomAD
rs1314947427	847	V>G		No	gnomAD
rs1975119473	847	V>M		No	Ensembl
rs773380705	848	K>R		No	ExAC TOPMed gnomAD
rs1302779533	850	Q>K		No	gnomAD
rs1454134901	852	S>N		No	gnomAD
rs1315085304	853	S>N		No	gnomAD
rs1338957579	853	S>R		No	TOPMed gnomAD
rs1237475147	855	D>Y		No	gnomAD
rs372705324	856	R>L		No	ExAC TOPMed gnomAD
rs554739220	856	R>W		No	1000Genomes ExAC TOPMed gnomAD
rs1254204034	857	E>K		No	gnomAD
rs1567728964	860	A>G		No	Ensembl
rs143671350	860	A>S		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1567728964	860	A>V		No	Ensembl
rs1597864678	861	L>P		No	Ensembl
RCV001757959 rs749907095	862	R>Q		No	ClinVar ExAC TOPMed dbSNP gnomAD
COSM5852981 rs764833076	862	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs1238693741	863	D>E		No	gnomAD
COSM436924 rs1401664456	864	R>C	breast [Cosmic]	No	cosmic curated TOPMed gnomAD
rs747587135	867	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs755285892	867	R>H		No	ExAC TOPMed gnomAD
rs755285892	867	R>P		No	ExAC TOPMed gnomAD
rs1443856811	868	M>I		No	gnomAD
rs908878176	868	M>V		No	TOPMed
rs748285616	869	E>K		No	ExAC gnomAD
rs1373553825	870	R>S		No	TOPMed gnomAD
rs943021174	871	V>F		No	TOPMed
rs1597864729	871	V>G		No	Ensembl
rs1298881807	873	P>L		No	gnomAD
rs770017269	875	A>T		No	ExAC gnomAD
rs777901789	877	D>Y		No	ExAC gnomAD
rs1975134689	879	E>D		No	TOPMed
rs1480866105	881	E>K		No	TOPMed gnomAD
COSM981376	883	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs142384289	883	E>Q		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1451459534	884	E>G		No	Ensembl
rs1198013464	885	G>D		No	TOPMed gnomAD
rs1175645720	885	G>S		No	gnomAD
rs1324654826	888	V>I		No	gnomAD
rs1975135302	889	P>L		No	TOPMed gnomAD
rs779006452	889	P>S		No	ExAC TOPMed gnomAD
rs1361813822	893	P>H		No	gnomAD
rs1361813822	893	P>R		No	gnomAD
rs1262894595	894	E>K		No	TOPMed gnomAD
rs761602629	898	A>S		No	ExAC gnomAD
rs761602629	898	A>T		No	ExAC gnomAD
rs772986886	899	A>V		No	ExAC gnomAD
rs762745722	900	E>G		No	ExAC gnomAD
rs1389558261	901	E>A		No	TOPMed
COSM3519480	904	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1975136198	905	S>N		No	Ensembl
rs758990694	907	R>G		No	ExAC TOPMed gnomAD
rs199975737	907	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs199975737	907	R>L		No	1000Genomes ExAC TOPMed gnomAD
rs2143392523 RCV001532296	908	M>I		No	ClinVar Ensembl dbSNP
rs78970955	909	P>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs78970955	909	P>R		No	1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	909	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs867007726	911	A>S		No	Ensembl
rs147062279	912	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs1348992399	913	P>L		No	gnomAD
rs368398299	913	P>S		No	ESP ExAC TOPMed gnomAD
rs779132007	914	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1246977283	915	S>L	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
COSM3519482 rs549971892	915	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1597865583	915	S>P		No	Ensembl
TCGA novel	915	S>R	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs748096408	916	P>L		No	ExAC TOPMed gnomAD
rs200436795	917	P>S		No	ExAC TOPMed gnomAD
rs773884974	919	S>A		No	ExAC gnomAD
rs1332298867	919	S>L		No	TOPMed
rs1975138165	920	S>N		No	TOPMed
rs1158891119	921	W>C		No	TOPMed gnomAD
rs138073126	923	R>P		No	ESP ExAC TOPMed gnomAD
rs138073126	923	R>Q		No	ESP ExAC TOPMed gnomAD
rs147017530	923	R>W		No	ESP ExAC gnomAD
rs764619422	924	V>M		No	ExAC TOPMed gnomAD
rs757633145	925	S>A		No	ExAC gnomAD
rs1975138827	925	S>L		No	Ensembl
rs200925951	926	R>P		No	1000Genomes ExAC TOPMed gnomAD
rs765376957	926	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1975138917 RCV001268850	927	L>missing		No	ClinVar dbSNP
rs748090224	928	M>V		No	ExAC gnomAD
rs1487182909	929	E>Q		No	Ensembl
rs756073486	931	D>A		No	ExAC TOPMed gnomAD
rs756073486	931	D>G		No	ExAC TOPMed gnomAD
rs1463063506	931	D>N		No	TOPMed
rs756073486	931	D>V		No	ExAC TOPMed gnomAD
COSM3519483 rs777872350	932	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs774048138	935	R>C		No	ExAC gnomAD
rs1248020072	935	R>H		No	gnomAD
rs745563559	936	R>C		No	ExAC gnomAD
rs1352623558	936	R>H		No	TOPMed gnomAD
rs761947051	937	G>S		No	Ensembl
rs1182319112 COSM3519484	938	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA gnomAD
rs1037994696	938	R>H		No	TOPMed gnomAD
rs1037994696	938	R>P		No	TOPMed gnomAD
rs771587184	940	R>C		No	ExAC gnomAD
rs1470355699	943	K>R		No	gnomAD
rs1975141248	944	Q>*		No	TOPMed
TCGA novel	944	Q>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1975141402	945	E>D		No	gnomAD
rs1282468836	945	E>K		No	TOPMed
rs777127538	948	R>Q		No	ExAC TOPMed gnomAD
rs764527829	948	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1285766718	952	L>M		No	TOPMed gnomAD
rs2143393187	952	L>P		No	Ensembl
rs1226113136	953	Q>*		No	gnomAD
rs1975142405	954	G>C		No	Ensembl
rs1030067320	954	G>D		No	TOPMed gnomAD
rs1196017111	955	S>A		No	gnomAD
rs777782427	958	R>Q		No	ExAC TOPMed gnomAD
rs200230098	958	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes NCI-TCGA gnomAD
rs1477435318	959	G>C		No	gnomAD
rs757104315	960	G>W		No	ExAC TOPMed gnomAD
rs1168718880	961	G>A		No	gnomAD
COSM1384501	962	L>C	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs777114824	963	R>H		No	ExAC TOPMed gnomAD
rs1382144063	964	R>S		No	gnomAD
rs1213139314	966	P>L		No	TOPMed gnomAD
rs1975144436	966	P>S		No	TOPMed
rs1292911568	967	A>T		No	gnomAD
rs773411038	968	R>C		No	ExAC TOPMed gnomAD
rs763396080	968	R>H		No	ExAC TOPMed gnomAD
rs1975144987	969	F>L		No	TOPMed
rs766450219	970	V>M		No	ExAC TOPMed gnomAD
rs202059928 RCV001723330	971	P>S		No	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs202059928	971	P>T		No	1000Genomes ExAC TOPMed gnomAD
rs767762952	973	H>Q		No	ExAC TOPMed gnomAD
rs1975145327	974	D>E		No	TOPMed
rs550136320	974	D>H		No	1000Genomes ExAC TOPMed gnomAD
rs1398332598	975	C>S		No	TOPMed gnomAD
rs1184702686	975	C>Y		No	gnomAD
rs1340165720	977	L>P		No	TOPMed
rs1304103979	978	R>C		No	TOPMed
rs1975145527	978	R>H		No	TOPMed
rs867942178	980	P>S		No	gnomAD
rs1348637296	982	K>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
TCGA novel	985	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs556299467	985	P>S		No	1000Genomes gnomAD
rs1975145882	986	Q>*		No	TOPMed
rs774122476	986	Q>R		No	gnomAD
rs1975146060	987	H>Y		No	TOPMed
rs193144796	988	R>Q		No	1000Genomes ExAC TOPMed gnomAD
rs376256028	988	R>W		No	ESP ExAC TOPMed gnomAD
rs747689834	989	E>D		No	ExAC TOPMed gnomAD
rs1382332110	990	S>C		No	gnomAD
rs1382332110	990	S>F		No	gnomAD
rs367650984	991	W>C		No	ESP TOPMed gnomAD
rs770147759	991	W>R		No	ExAC gnomAD
rs1264644495	993	G>E		No	TOPMed gnomAD
rs1192600230	993	G>R		No	Ensembl
rs773779354	994	M>T		No	ExAC TOPMed gnomAD
rs1975146555	995	G>R		No	Ensembl
rs1975146828	998	E>G		No	Ensembl
rs759886036	999	A>P		No	ExAC TOPMed gnomAD
rs143987985	1002	P>Q		No	1000Genomes ESP ExAC TOPMed gnomAD
rs541004226	1003	L>I		No	1000Genomes ExAC gnomAD
rs2143393964	1003	L>P		No	Ensembl
rs370095783	1005	P>A		No	ESP ExAC TOPMed gnomAD
rs1946495998	1005	P>H		No	gnomAD
rs370095783	1005	P>S		No	ESP ExAC TOPMed gnomAD
TCGA novel	1006	P>L	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1157330216	1008	E>V		No	gnomAD
rs373574368	1010	T>A		No	ESP ExAC gnomAD
rs747596325	1010	T>N		No	ExAC TOPMed gnomAD
rs747596325	1010	T>S		No	ExAC TOPMed gnomAD
rs778134222	1012	H>Q		No	ExAC TOPMed gnomAD
rs755651054	1012	H>R		No	ExAC TOPMed gnomAD
rs1403257098	1012	H>Y		No	gnomAD
rs749860382	1013	P>L		No	ExAC gnomAD
rs1975148052	1014	A>T		No	TOPMed gnomAD
rs375145620	1015	T>I		No	ESP TOPMed gnomAD
rs1014528756	1015	T>P		No	Ensembl
rs1317509272	1016	P>L		No	gnomAD
rs1308853602	1016	P>S		No	gnomAD
rs185185243	1017	A>S		No	1000Genomes ExAC TOPMed gnomAD
rs772370282	1018	R>C		No	ExAC TOPMed gnomAD
rs775861610	1018	R>H		No	ExAC TOPMed gnomAD
rs764293529	1019	R>Q		No	ExAC TOPMed gnomAD
rs760667669	1019	R>W		No	ExAC TOPMed gnomAD
rs1975148935	1020	P>R		No	TOPMed
rs369620316	1021	P>Q		No	ESP ExAC TOPMed gnomAD
rs369620316	1021	P>R		No	ESP ExAC TOPMed gnomAD
rs1975149290	1022	S>N		No	gnomAD
rs1310634391	1023	P>L		No	TOPMed
rs1975149350	1023	P>S		No	gnomAD
rs141225452	1024	R>P		No	1000Genomes ESP ExAC TOPMed gnomAD
rs767087719	1025	R>S		No	ExAC gnomAD
rs1975149816	1026	S>Y		No	Ensembl
rs1299738298	1028	H>R		No	gnomAD
rs1439556561	1028	H>Y		No	gnomAD
rs755562244	1029	P>L		No	ExAC TOPMed gnomAD
COSM3193368 rs139120839	1030	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD
rs139120839	1030	R>L		No	ESP ExAC TOPMed gnomAD
rs62072492	1030	R>S		No	ESP ExAC TOPMed gnomAD
rs1975150804	1036	G>E		No	TOPMed
rs1838334213	1038	G>D		No	TOPMed gnomAD
rs1159586653	1038	G>S		No	TOPMed gnomAD
rs775842918	1039	R>Q		No	ExAC TOPMed gnomAD
rs200388087	1041	R>G		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1202209298	1042	G>A		No	TOPMed gnomAD
rs1202209298	1042	G>E		No	TOPMed gnomAD
rs1202209298	1042	G>V		No	TOPMed gnomAD
rs1975151903	1045	S>P		No	TOPMed
TCGA novel	1046	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs767353539	1047	Q>*		No	ExAC TOPMed gnomAD
rs1407648265	1047	Q>H		No	gnomAD
rs767353539	1047	Q>K		No	ExAC TOPMed gnomAD
rs1172108746	1048	P>S		No	gnomAD
rs1975152253	1049	E>K		No	Ensembl
rs570522657	1050	P>R		No	1000Genomes ExAC TOPMed gnomAD
rs1404147812	1050	P>T		No	gnomAD
rs1975152401	1051	Q>P		No	TOPMed gnomAD
rs760414992	1052	H>P		No	ExAC gnomAD
rs760624493	1053	F>*		No	ExAC gnomAD
rs1338826212	1053	F>L		No	gnomAD
rs763684173	1055	P>L		No	ExAC gnomAD
COSM981382	1055	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1163172391	1057	K>R		No	gnomAD
rs1975152813	1059	N>D		No	TOPMed gnomAD
rs1567729811	1059	N>S		No	Ensembl
rs1454815005	1060	S>F		No	TOPMed gnomAD
rs753338117	1060	S>P		No	ExAC TOPMed gnomAD
rs1454815005	1060	S>Y		No	TOPMed gnomAD
rs1401065423	1061	Y>*		No	TOPMed gnomAD
rs756839157	1061	Y>H		No	ExAC TOPMed gnomAD
rs756839157	1061	Y>N		No	ExAC TOPMed gnomAD
rs751031419	1063	Q>K		No	ExAC TOPMed gnomAD
rs1200208611	1065	P>S		No	gnomAD
rs1200208611	1065	P>T		No	gnomAD
rs1975153455	1066	Q>P		No	Ensembl
rs780508973	1067	P>L		No	ExAC TOPMed gnomAD
rs1474155917	1067	P>S		No	gnomAD
rs1474155917	1067	P>T		No	gnomAD
rs1975153744	1068	Y>*		No	gnomAD
rs1975153692	1068	Y>D		No	Ensembl
rs200907250	1069	P>A		No	1000Genomes ExAC TOPMed gnomAD
rs921895034	1069	P>Q		No	TOPMed gnomAD
rs200907250	1069	P>T		No	1000Genomes ExAC TOPMed gnomAD
rs1367200582	1070	A>D		No	gnomAD
rs781287137	1071	Q>L		No	ExAC TOPMed gnomAD
rs781287137	1071	Q>R		No	ExAC TOPMed gnomAD
rs1324564327	1072	R>L		No	TOPMed gnomAD
rs1324564327	1072	R>Q		No	TOPMed gnomAD
COSM981383 rs748194713	1072	R>W	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1299876878	1073	P>H		No	TOPMed gnomAD
rs1299876878	1073	P>L		No	TOPMed gnomAD
rs1245516424	1075	G>A		No	TOPMed gnomAD
rs1245516424	1075	G>E		No	TOPMed gnomAD
rs1245516424	1075	G>V		No	TOPMed gnomAD
rs199800684	1077	R>C		No	ExAC TOPMed gnomAD
rs759515240	1077	R>H		No	ExAC TOPMed gnomAD
rs759515240	1077	R>L		No	ExAC TOPMed gnomAD
rs759515240	1077	R>P		No	ExAC TOPMed gnomAD
rs1597866385	1078	Y>F		No	Ensembl
rs1284373251	1078	Y>H		No	Ensembl
rs1597866385	1078	Y>S		No	Ensembl
rs1360818803	1079	P>T		No	TOPMed
rs753993722	1080	P>H	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs763743652	1080	P>L		No	ExAC TOPMed gnomAD
rs763743652	1080	P>Q		No	ExAC TOPMed gnomAD
rs763743652	1080	P>R		No	ExAC TOPMed gnomAD
rs760407824	1080	P>S		No	ExAC gnomAD
rs764889837	1081	Y>F		No	ExAC gnomAD
rs761397495	1081	Y>H		No	ExAC gnomAD
TCGA novel	1081	Y>I	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs146157309	1082	T>A		No	ESP TOPMed gnomAD
rs1157739071	1083	T>I		No	TOPMed gnomAD
rs1382748594	1084	P>A		No	TOPMed gnomAD
COSM3519491	1084	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs570367142	1085	P>L		No	1000Genomes TOPMed gnomAD
rs570367142	1085	P>Q		No	1000Genomes TOPMed gnomAD
rs570367142	1085	P>R		No	1000Genomes TOPMed gnomAD
rs1975156625	1085	P>S		No	TOPMed
rs750930666	1086	R>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs139942468	1086	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs1975157135	1087	M>I		No	TOPMed
rs1975157061	1087	M>T		No	TOPMed
rs1313221020	1088	R>K		No	gnomAD
rs535655372	1089	R>L		No	1000Genomes ExAC TOPMed gnomAD
rs535655372	1089	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs780451511	1089	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1161457987	1090	Q>R		No	TOPMed
rs755305909	1091	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs201800868	1091	R>L		No	1000Genomes ExAC TOPMed gnomAD
rs201800868	1091	R>P		No	1000Genomes ExAC TOPMed gnomAD
rs755305909	1091	R>S		No	ExAC TOPMed gnomAD
rs1225965913	1092	S>F		No	gnomAD
rs376866611	1093	A>V		No	ESP TOPMed gnomAD
rs867276857	1095	D>N		No	gnomAD
rs866339516	1097	K>E		No	TOPMed gnomAD
COSM3519492	1097	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs866339516	1097	K>Q		No	TOPMed gnomAD
rs749401324	1097	K>R		No	ExAC gnomAD
rs368230467	1098	E>D		No	ESP ExAC TOPMed gnomAD
rs1597866526	1099	S>N		No	Ensembl
rs1471002106	1099	S>R		No	TOPMed gnomAD
rs999898090	1100	G>V		No	TOPMed gnomAD
rs1469384742	1102	A>T		No	gnomAD
rs775301108	1103	V>M		No	ExAC TOPMed gnomAD
rs1404684457	1104	V>S		No	TOPMed gnomAD

1 associated diseases with O43896

[MIM: 611302]: Spastic ataxia 2, autosomal recessive (SPAX2)

A neurologic disorder characterized by cerebellar ataxia, dysarthria, and variable spasticity of the lower limbs. Cognition is not affected. . Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A neurologic disorder characterized by cerebellar ataxia, dysarthria, and variable spasticity of the lower limbs. Cognition is not affected. . Note=The disease is caused by variants affecting the gene represented in this entry.

4 regional properties for O43896

Type	Name	Position	InterPro Accession
domain	Forkhead-associated (FHA) domain	524 - 590	IPR000253
domain	Kinesin motor domain	3 - 356	IPR001752
conserved_site	Kinesin motor domain, conserved site	242 - 253	IPR019821
domain	Kinesin-associated	352 - 522	IPR032405

Functions

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

7 GO annotations of cellular component

Name	Definition
axon	The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter.
axon cytoplasm	Any cytoplasm that is part of a axon.
dendrite	A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body.
endoplasmic reticulum	The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).
Golgi apparatus	A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
kinesin complex	Any complex that includes a dimer of molecules from the kinesin superfamily, a group of related proteins that contain an extended region of predicted alpha-helical coiled coil in the main chain that likely produces dimerization. The native complexes of several kinesin family members have also been shown to contain additional peptides, often designated light chains as all of the noncatalytic subunits that are currently known are smaller than the chain that contains the motor unit. Kinesin complexes generally possess a force-generating enzymatic activity, or motor, which converts the free energy of the gamma phosphate bond of ATP into mechanical work.
microtubule	Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle.

6 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
ATP hydrolysis activity	Catalysis of the reaction
cytoskeletal motor activity	Generation of force resulting in movement, for example along a microfilament or microtubule, or in torque resulting in membrane scission or rotation of a flagellum. The energy required is obtained either from the hydrolysis of a nucleoside triphosphate or by an electrochemical proton gradient (proton-motive force).
microtubule binding	Binding to a microtubule, a filament composed of tubulin monomers.
plus-end-directed microtubule motor activity	A motor activity that generates movement along a microtubule toward the plus end, driven by ATP hydrolysis.
RNA binding	Binding to an RNA molecule or a portion thereof.

6 GO annotations of biological process

Name	Definition
anterograde neuronal dense core vesicle transport	The directed movement of substances in neuronal dense core vesicles along axonal microtubules towards the presynapse.
cytoskeleton-dependent intracellular transport	The directed movement of substances along cytoskeletal fibers such as microfilaments or microtubules within a cell.
microtubule-based movement	A microtubule-based process that results in the movement of organelles, other microtubules, or other cellular components. Examples include motor-driven movement along microtubules and movement driven by polymerization or depolymerization of microtubules.
retrograde neuronal dense core vesicle transport	The directed movement of neuronal dense core vesicles along axonal microtubules towards the cell body.
retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	The directed movement of substances from the Golgi back to the endoplasmic reticulum, mediated by vesicles bearing specific protein coats such as COPI or COG.
vesicle-mediated transport	A cellular transport process in which transported substances are moved in membrane-bounded vesicles; transported substances are enclosed in the vesicle lumen or located in the vesicle membrane. The process begins with a step that directs a substance to the forming vesicle, and includes vesicle budding and coating. Vesicles are then targeted to, and fuse with, an acceptor membrane.

12 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P33176	KIF5B	Kinesin-1 heavy chain	Homo sapiens (Human)	EV
Q2M1P5	KIF7	Kinesin-like protein KIF7	Homo sapiens (Human)	EV
Q12840	KIF5A	Kinesin heavy chain isoform 5A	Homo sapiens (Human)	EV
O60282	KIF5C	Kinesin heavy chain isoform 5C	Homo sapiens (Human)	EV
Q86VH2	KIF27	Kinesin-like protein KIF27	Homo sapiens (Human)	SS
Q7Z4S6	KIF21A	Kinesin-like protein KIF21A	Homo sapiens (Human)	EV
O75037	KIF21B	Kinesin-like protein KIF21B	Homo sapiens (Human)	EV
Q9P2E2	KIF17	Kinesin-like protein KIF17	Homo sapiens (Human)	EV
O00139	KIF2A	Kinesin-like protein KIF2A	Homo sapiens (Human)	PR
Q9NQT8	KIF13B	Kinesin-like protein KIF13B	Homo sapiens (Human)	EV
Q9H1H9	KIF13A	Kinesin-like protein KIF13A	Homo sapiens (Human)	SS
G5EFQ4	klp-6	Kinesin-like protein	Caenorhabditis elegans	EV

10	20	30	40	50	60
MAGASVKVAV	RVRPFNARET	SQDAKCVVSM	QGNTTSIINP	KQSKDAPKSF	TFDYSYWSHT
70	80	90	100	110	120
STEDPQFASQ	QQVYRDIGEE	MLLHAFEGYN	VCIFAYGQTG	AGKSYTMMGR	QEPGQQGIVP
130	140	150	160	170	180
QLCEDLFSRV	SENQSAQLSY	SVEVSYMEIY	CERVRDLLNP	KSRGSLRVRE	HPILGPYVQD
190	200	210	220	230	240
LSKLAVTSYA	DIADLMDCGN	KARTVAATNM	NETSSRSHAV	FTIVFTQRCH	DQLTGLDSEK
250	260	270	280	290	300
VSKISLVDLA	GSERADSSGA	RGMRLKEGAN	INKSLTTLGK	VISALADMQS	KKRKSDFIPY
310	320	330	340	350	360
RDSVLTWLLK	ENLGGNSRTA	MIAALSPADI	NYEETLSTLR	YADRTKQIRC	NAIINEDPNA
370	380	390	400	410	420
RLIRELQEEV	ARLRELLMAQ	GLSASALEGL	KTEEGSVRGA	LPAVSSPPAP	VSPSSPTTHN
430	440	450	460	470	480
GELEPSFSPN	TESQIGPEEA	MERLQETEKI	IAELNETWEE	KLRKTEALRM	EREALLAEMG
490	500	510	520	530	540
VAVREDGGTV	GVFSPKKTPH	LVNLNEDPLM	SECLLYHIKD	GVTRVGQVDM	DIKLTGQFIR
550	560	570	580	590	600
EQHCLFRSIP	QPDGEVVVTL	EPCEGAETYV	NGKLVTEPLV	LKSGNRIVMG	KNHVFRFNHP
610	620	630	640	650	660
EQARLERERG	VPPPPGPPSE	PVDWNFAQKE	LLEQQGIDIK	LEMEKRLQDL	ENQYRKEKEE
670	680	690	700	710	720
ADLLLEQQRL	YADSDSGDDS	DKRSCEESWR	LISSLREQLP	PTTVQTIVKR	CGLPSSGKRR
730	740	750	760	770	780
APRRVYQIPQ	RRRLQGKDPR	WATMADLKMQ	AVKEICYEVA	LADFRHGRAE	IEALAALKMR
790	800	810	820	830	840
ELCRTYGKPD	GPGDAWRAVA	RDVWDTVGEE	EGGGAGSGGG	SEEGARGAEV	EDLRAHIDKL
850	860	870	880	890	900
TGILQEVKLQ	NSSKDRELQA	LRDRMLRMER	VIPLAQDHED	ENEEGGEVPW	APPEGSEAAE
910	920	930	940	950	960
EAAPSDRMPS	ARPPSPPLSS	WERVSRLMEE	DPAFRRGRLR	WLKQEQLRLQ	GLQGSGGRGG
970	980	990	1000	1010	1020
GLRRPPARFV	PPHDCKLRFP	FKSNPQHRES	WPGMGSGEAP	TPLQPPEEVT	PHPATPARRP
1030	1040	1050	1060	1070	1080
PSPRRSHHPR	RNSLDGGGRS	RGAGSAQPEP	QHFQPKKHNS	YPQPPQPYPA	QRPPGPRYPP
1090	1100
YTTPPRMRRQ	RSAPDLKESG	AAV