AiPD: Autoinhibited Protein Database

A6NHR9

Gene name	SMCHD1
Protein name	Structural maintenance of chromosomes flexible hinge domain-containing protein 1
Names	SMC hinge domain-containing protein 1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:23347
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1665-1736 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1665-1736 (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

2 structures for A6NHR9

Entry ID	Method	Resolution	Chain	Position	Source
6MW7	X-ray	219 A	A/B/C/D	24-580	PDB
AF-A6NHR9-F1	Predicted				AlphaFoldDB

1372 variants for A6NHR9

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA401684505 rs769401596 RCV000529662 CA401684502	5	D>E	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ExAC TOPMed gnomAD ClinVar dbSNP
CA8870438 RCV001305407 rs762420641	7	G>S	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000593750 CA8870442 rs751463286 RCV001372254	13	S>A	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV003165745 RCV001855170 CA8870444 RCV000402221 rs559283578	14	V>M	Facioscapulohumeral muscular dystrophy 2 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV002062054 rs779165187 CA8870450 RCV000594166 COSM1189640 COSM1189638	18	E>D	lung Facioscapulohumeral muscular dystrophy 2 [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
RCV000341156 rs748596758 RCV001855126 CA8870451	19	D>H	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs2073049032 RCV001301642	27	T>A	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinVar dbSNP
rs2073049380 RCV001227734	29	Y>*	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinVar dbSNP
CA401684927 RCV000850314 rs1598264942	30	L>W	Scapulohumeral muscular dystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001302694 CA401685339 rs1469724104	59	C>F	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs2073052786 RCV001310238	62	Q>missing	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinVar dbSNP
RCV002554491 CA401687250 RCV001066342 rs1450657748	68	P>S	Facioscapulohumeral muscular dystrophy 2 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA8870497 RCV001037349 rs181045631 RCV000272361	82	I>V	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs772782379 RCV001322571 CA8870498	83	T>A	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
COSM2808475 rs200521548 RCV001045423 CA8870519 RCV000239296 COSM2808477 RCV000726281	88	D>G	Facioscapulohumeral muscular dystrophy 2 breast Facioscapulohumeral muscular dystrophy 2 (fshd2) [ClinVar, Cosmic, Ensembl]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA8870521 rs201466122 RCV001089036 RCV000263109	93	D>E	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001070222 rs2073456934	101	Q>K	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinVar dbSNP
RCV001219404 rs375795924 RCV003142170 CA8870528	104	N>S	Facioscapulohumeral muscular dystrophy 2 Facioscapulohumeral muscular dystrophy 2 (fshd2) [ClinVar, Ensembl]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000497010 VAR_078869 CA401687840 rs1135402737	107	L>P	Arrhinia with choanal atresia and microphthalmia syndrome BAMS; no change in protein abundance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_080698	110	A>T	FSHD2 [UniProt]	Yes	UniProt
RCV000497000 rs1135402738 CA401688111 VAR_078870	129	M>K	Arrhinia with choanal atresia and microphthalmia syndrome BAMS; no change in protein abundance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_078871	134	A>S	BAMS; has an increased ATPase activity [UniProt]	Yes	UniProt
RCV000417256 rs1057519645 CA16602281 VAR_078872	135	S>C	Arrhinia with choanal atresia and microphthalmia syndrome BAMS; has an increased ATPase activity; no change in protein abundance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA16602283 RCV000417347 rs1057519646 VAR_078873	135	S>I	Arrhinia with choanal atresia and microphthalmia syndrome BAMS; no change in protein abundance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs1057519646 VAR_078874 RCV000417284 CA16602282	135	S>N	Arrhinia with choanal atresia and microphthalmia syndrome BAMS; no change in protein abundance; does not affect ATPase activity [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs1057519643 CA16602279 RCV000497012 RCV000417233 VAR_078875	136	E>D	Arrhinia with choanal atresia and microphthalmia syndrome Facioscapulohumeral muscular dystrophy 2 Facioscapulohumeral muscular dystrophy 2 (fshd2) BAMS; no change in protein abundance [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_078876	136	E>G	BAMS; has an increased ATPase activity [UniProt]	Yes	UniProt
RCV000417337 CA16602280 RCV000417296 VAR_078877 rs1057519644	137	G>E	Arrhinia with choanal atresia and microphthalmia syndrome Facioscapulohumeral muscular dystrophy 2 Facioscapulohumeral muscular dystrophy 2 (fshd2) BAMS and FSHD2; no change in protein abundance; strongly increased ATPase activity [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_078878	138	Q>del	FSHD2 [UniProt]	Yes	UniProt
rs1135402739 CA401688260 RCV000497008 VAR_078879	139	N>H	Arrhinia with choanal atresia and microphthalmia syndrome Variant assessed as Somatic; impact. BAMS; no change in protein abundance [ClinVar, NCI-TCGA, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP
CA16602277 RCV000497003 rs1057519641 VAR_078880 RCV000417278 CA401688335	141	L>F	Arrhinia with choanal atresia and microphthalmia syndrome BAMS; no change in protein abundance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
CA8870557 RCV000295034 RCV000726417 RCV002518111 RCV000794387 rs531460906	158	R>H	Facioscapulohumeral muscular dystrophy 2 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs376920153 RCV003141846 CA8870560 RCV000819750	161	G>V	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV002550698 RCV000996631 rs1598293848	164	R>missing	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinVar dbSNP
RCV000497014 CA401689909 VAR_078881 RCV000497007 rs1135402740	171	F>V	Arrhinia with choanal atresia and microphthalmia syndrome Cryptorchidism BAMS; no change in protein abundance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
VAR_078882	194	L>F	FSHD2; decreased ATPase activity [UniProt]	Yes	UniProt
VAR_078883	195	N>del	FSHD2 [UniProt]	Yes	UniProt
RCV001056796 rs2074100315	226	R>C	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinVar dbSNP
RCV001861859 rs1568143698 CA401693023 RCV000678456	232	I>V	Scapulohumeral muscular dystrophy Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA401693171 rs1135402741 VAR_078884 RCV000497005	242	A>G	Arrhinia with choanal atresia and microphthalmia syndrome BAMS; no change in protein abundance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000414195 RCV002524661 rs1057518622 CA16043148	253	I>T	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
VAR_078885	263	H>D	FSHD2; decreased ATPase activity [UniProt]	Yes	UniProt
COSM277383 rs867104086 CA401693411 RCV000850317 COSM277382	264	E>K	Scapulohumeral muscular dystrophy large_intestine [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
VAR_080699 rs746679988	275	K>missing	FSHD2; unknown pathological significance [UniProt]	Yes	UniProt dbSNP
VAR_080699 rs746679988	275	K>del	FSHD2; unknown pathological significance [UniProt]	Yes	UniProt dbSNP
RCV001360956 rs886044033 RCV000262488 CA10606255	282	I>M	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA10603488 rs886041921 RCV000405084 VAR_080700	283	Y>C	FSHD2; does not affect ATPase activity [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000730930 RCV001035276 CA401693618 rs1568144816	285	G>R	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs755508169 RCV000592829 RCV000820243 CA8870659	307	H>R	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000595520 CA8870660 rs569470518 RCV001454163	309	L>V	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001867934 rs745495716 RCV000597663 CA8870664	318	S>T	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000306911 CA8870666 rs145233420 RCV001407288	329	P>T	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV002518117 RCV000386739 RCV001369038 rs748848954 CA8870667	332	I>V	Facioscapulohumeral muscular dystrophy 2 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
VAR_078886	342	W>S	BAMS; slightly decreased ATPase activity [UniProt]	Yes	UniProt
RCV000392001 RCV000791844 CA10603333 rs886041918	344	R>*	Facioscapulohumeral muscular dystrophy 2 Facioscapulohumeral muscular dystrophy 2 (fshd2) [ClinVar, Ensembl]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_078887	344	R>del	FSHD2 [UniProt]	Yes	UniProt
rs2074249757 RCV001350511	345	Q>E	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinVar dbSNP
RCV002521501 RCV000417316 CA16602275 rs1057519639 VAR_078888 RCV000497013	345	Q>R	Arrhinia with choanal atresia and microphthalmia syndrome Facioscapulohumeral muscular dystrophy 2 BAMS; no change in protein abundance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA8870673 RCV000314794 RCV003165749 rs776944618 RCV001225059	347	A>T	Facioscapulohumeral muscular dystrophy 2 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000417236 rs1057519640 CA16602276 VAR_078889	348	H>R	Arrhinia with choanal atresia and microphthalmia syndrome BAMS; no change in protein abundance; does not affect ATPase activity [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
VAR_069067	353	Y>C	FSHD2; decreased protein level in fibroblasts as compared to wild-type protein; abolished ATPase activity [UniProt]	Yes	UniProt
RCV000274770 CA8870686 RCV003165719 rs201408220 RCV001859544	362	I>M	Facioscapulohumeral muscular dystrophy 2 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1598331615 RCV000850316 CA401697008	391	N>S	Scapulohumeral muscular dystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001236908 RCV003166470 rs2074317652	393	R>G	Facioscapulohumeral muscular dystrophy 2 Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
RCV002535190 CA401697129 RCV000731133 rs377471712	396	Q>*	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs377471712 CA8870710 RCV000279024 RCV002521994	396	Q>K	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
VAR_078890 rs1057519642 RCV000417324 RCV000497016 CA16602278 RCV000497004	400	Q>L	Arrhinia with choanal atresia and microphthalmia syndrome BAMS; no change in protein abundance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA401697270 rs1555632935 RCV000555889	401	T>M	Facioscapulohumeral muscular dystrophy 2 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar Ensembl NCI-TCGA dbSNP
rs2074319161 RCV001216871	416	H>R	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinVar dbSNP
CA401697667 rs1135402742 VAR_078891 RCV000497009	420	D>V	Arrhinia with choanal atresia and microphthalmia syndrome BAMS; no change in protein abundance; slightly decreased ATPase activity [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_078892	425	G>R	FSHD2 [UniProt]	Yes	UniProt
rs886044914 RCV000361350	430	H>missing	Scapulohumeral muscular dystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV000033082 rs387907319 CA261230	434	Y>*	Facioscapulohumeral muscular dystrophy 2 Facioscapulohumeral muscular dystrophy 2 (fshd2) [ClinVar, Ensembl]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_078893	434	Y>del	FSHD2 [UniProt]	Yes	UniProt
CA8870721 CA401698033 rs199596161 RCV000822145	442	D>E	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA401698082 RCV001208936 rs1325548788	447	S>T	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV000274923 RCV000697318 CA8870738 rs752328609	464	A>S	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000497001 VAR_078894 rs1135402743 CA401699112	473	E>Q	Arrhinia with choanal atresia and microphthalmia syndrome BAMS; no change in protein abundance; slightly decreased ATPase activity [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_080701	478	G>E	FSHD2; abolished ATPase activity [UniProt]	Yes	UniProt
VAR_069068	479	R>P	FSHD2; decreased protein level in fibroblasts as compared to wild-type protein [UniProt]	Yes	UniProt
VAR_069069	492	C>R	FSHD2; decreased protein level in fibroblasts as compared to wild-type protein [UniProt]	Yes	UniProt
rs1355109257 RCV001332051	502	P>A	Arrhinia with choanal atresia and microphthalmia syndrome [ClinVar]	Yes	ClinVar dbSNP
rs1598335785 CA401699770 RCV000791959	509	I>V	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_078895	518	K>E	BAMS; increased ATPase activity [UniProt]	Yes	UniProt
rs2074384298 RCV001348347	522	S>N	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinVar dbSNP
RCV000497006 rs1135402744 CA401700000 VAR_078896	523	T>K	Arrhinia with choanal atresia and microphthalmia syndrome BAMS; no change in protein abundance; slightly decreased ATPase activity [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA401700011 RCV000497011 VAR_078897 rs1135402745	524	N>S	Arrhinia with choanal atresia and microphthalmia syndrome BAMS; no change in protein abundance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs397518422 RCV000074384 COSM247469 CA266197 VAR_078898	527	T>M	Facioscapulohumeral muscular dystrophy 2 Variant assessed as Somatic; impact. prostate Facioscapulohumeral muscular dystrophy 2 (fshd2) FSHD2; decreased ATPase activity [ClinVar, NCI-TCGA, Cosmic, Ensembl, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP
RCV000033084 rs1057519614	537	D>missing	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinVar dbSNP
CA401678023 RCV001212601 RCV001780128 rs1224850132	552	R>*	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
VAR_078899 CA10604171 RCV000497002 RCV000262076 rs886042392	552	R>Q	Arrhinia with choanal atresia and microphthalmia syndrome Variant assessed as Somatic; impact. BAMS; no change in protein abundance; does not affect ATPase activity [ClinVar, NCI-TCGA, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP
rs577011893 CA8870787 RCV002535259 RCV000732212	608	I>M	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
VAR_080702	615	V>D	FSHD2 [UniProt]	Yes	UniProt
rs920418184 CA295457187 RCV001054519	637	H>R	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA8870857 RCV000595563 rs529127480 RCV001069678	666	I>V	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA261232 VAR_069070 RCV000033083 rs397514623	690	P>S	Facioscapulohumeral muscular dystrophy 2 Facioscapulohumeral muscular dystrophy 2 (fshd2) FSHD2; decreased protein level in fibroblasts as compared to wild-type protein; decreased ATPase activity [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA8870890 RCV001808708 RCV001683079 rs2276092 VAR_042959 RCV000251853 RCV001510268	708	V>I	Arrhinia with choanal atresia and microphthalmia syndrome Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs2074549354 RCV001310241	711	A>missing	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinVar dbSNP
VAR_078900	716	G>S	FSHD2 [UniProt]	Yes	UniProt
RCV001202061 rs2074555124	728	E>missing	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinVar dbSNP
VAR_078901	731	Q>del	FSHD2 [UniProt]	Yes	UniProt
VAR_078902	748	L>P	FSHD2 [UniProt]	Yes	UniProt
VAR_078903	780	E>del	FSHD2 [UniProt]	Yes	UniProt
rs1480135119 RCV000678449 CA401681260	795	V>A	Scapulohumeral muscular dystrophy [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs777201756 CA8870984 RCV000798667	836	R>C	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
VAR_078904	849	D>N	FSHD2 [UniProt]	Yes	UniProt
rs1568235257 RCV001244922	856	Q>H	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinVar dbSNP
VAR_069071	868	S>N	FSHD2; decreased protein level in fibroblasts as compared to wild-type protein [UniProt]	Yes	UniProt
CA8871021 rs757305853 RCV001228508	869	G>S	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA8871022 RCV000729822 rs548397345 RCV001862184	869	G>V	Facioscapulohumeral muscular dystrophy 2 Facioscapulohumeral muscular dystrophy 2 (fshd2) [ClinVar, Ensembl]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA8871025 rs372975122 RCV000795289 RCV000317493	871	S>Y	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV002521894 RCV000253585 RCV000366138 RCV000993031 CA8871028 RCV001517101 rs633422 VAR_042960 CA8871027	879	K>N	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA401682161 RCV000533451 rs1460743863 RCV000596750	887	G>A	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000543644 rs770371694 CA8871048	911	L>I	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA8871079 RCV000558597 RCV000244018 RCV001594914 rs9961682 VAR_051365	960	I>V	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs755786183 CA8871104 RCV001351700	980	V>I	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP
rs944887850 CA295468685 RCV001341469 RCV003136001	982	V>A	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA8871105 rs375962247 RCV001050770	982	V>L	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs2075090484 RCV001198499	991	S>N	Arrhinia with choanal atresia and microphthalmia syndrome [ClinVar]	Yes	ClinVar dbSNP
CA8871117 RCV001216693 RCV000323778 rs528154864	1016	P>L	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA401685549 RCV000788993 rs1598380521	1033	S>G	Scapulohumeral muscular dystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1568260824 RCV000695654 CA401685664	1050	I>F	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000725767 RCV000321018 RCV001859637 rs113434340 RCV000850315 CA8871151	1070	I>T	Scapulohumeral muscular dystrophy Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs2075160048 RCV001247815	1080	E>missing	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinVar dbSNP
CA8871153 RCV000685876 rs756368420 RCV000318655	1082	N>S	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000800862 rs371392245 CA8871156 RCV000311013	1084	T>I	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs930009782 RCV000639713 CA295469696	1087	L>S	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001308184 rs2075161238	1091	I>missing	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinVar dbSNP
rs2075161300 RCV001069017	1091	I>missing	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinVar dbSNP
RCV000368581 rs886042340 CA10604102 RCV001855101	1104	L>F	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV002519233 rs778206654 RCV000265066 CA8871177	1114	V>I	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001051327 CA8871178 rs377085725 RCV002267070	1116	T>A	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000803765 rs572540832 CA8871180	1121	M>V	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
rs2075307655 RCV001231571	1145	P>missing	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinVar dbSNP
rs559928798 RCV001321432 CA295476642	1155	M>V	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD
RCV001310239 rs2075308386	1157	G>*	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinVar dbSNP
rs2075308543 RCV001222501	1160	T>I	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinVar dbSNP
rs1555644339 RCV000639711 CA401687929	1162	Q>*	Facioscapulohumeral muscular dystrophy 2 Facioscapulohumeral muscular dystrophy 2 (fshd2) [ClinVar, Ensembl]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000592863 RCV000872932 CA8871234 rs536643888	1173	I>M	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV002494820 RCV000351065 CA8871237 rs553452960	1176	T>I	Arrhinia with choanal atresia and microphthalmia syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
VAR_078905	1176	T>MH	FSHD2 [UniProt]	Yes	UniProt
RCV000678448 RCV002225113 CA401688316 rs1568280995	1177	D>Y	Scapulohumeral muscular dystrophy Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1598391266 CA401688573 RCV000795685	1188	P>R	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs780740818 RCV001308976 CA8871273	1213	N>K	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs2075396572 RCV001281576	1221	G>missing	Muscular atrophy [ClinVar]	Yes	ClinVar dbSNP
rs1204021010 CA401689493 RCV000515687	1227	G>R	Scapulohumeral muscular dystrophy [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA8871282 rs761222520 RCV001248305	1237	T>I	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001036634 rs771294371 CA401689573 RCV000598215	1239	R>C	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs750301200 CA8871284 RCV001037476	1239	R>H	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA8871291 rs755677576 RCV001248314	1254	P>A	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA8871292 RCV001855155 rs766226383 RCV000295797	1257	L>F	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV002518858 rs201059575 CA8871322 RCV000285663 RCV000639708	1281	I>V	Facioscapulohumeral muscular dystrophy 2 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000361618 RCV001434919 rs146798599 CA8871326	1290	D>Y	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000352363 CA8871328 RCV002055062 rs201497685	1291	N>S	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA8871329 RCV001321699 rs759140838	1294	P>L	Variant assessed as Somatic; 0.0 impact. Facioscapulohumeral muscular dystrophy 2 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA295478824 RCV003142139 RCV001208487 rs932696032	1297	H>R	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA401691509 RCV000639705 rs1555647170	1324	R>K	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001318600 rs2075542752	1325	A>T	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinVar dbSNP
RCV000685582 CA401692038 rs1345271914	1360	M>V	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV000639710 rs1555647265	1369	V>missing	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinVar dbSNP
RCV000706185 CA8871384 RCV000392940 rs375198512	1369	V>I	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA295479500 rs942559171 RCV003139714 RCV000517186 RCV000639706 COSM3524749	1370	R>C	Variant assessed as Somatic; 0.0 impact. Facioscapulohumeral muscular dystrophy 2 breast [NCI-TCGA, ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD
rs942559171 CA401692162 RCV000639709	1370	R>G	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV003165768 RCV000343429 CA8871385 rs185137363	1370	R>H	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs774329481 CA8871392 RCV002518130 RCV000282444	1385	G>C	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000592396 RCV001860167 rs774329481 CA401692347	1385	G>S	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000639712 rs369758530 CA8871410 RCV000593386	1393	S>T	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000730315 rs746741499 RCV002535150 CA8871417	1409	R>H	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs2075566961 RCV001070237	1411	S>missing	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinVar dbSNP
RCV000729724 RCV000639703 CA8871420 rs191487554	1419	T>A	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV002521922 rs371280641 RCV001374308 RCV000265388 CA8871444	1436	I>V	Facioscapulohumeral muscular dystrophy 2 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
VAR_080703	1449	R>K	FSHD2 [UniProt]	Yes	UniProt
CA8871462 RCV001232275 rs371144443	1457	V>L	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
VAR_080704	1463	Q>P	FSHD2 [UniProt]	Yes	UniProt
VAR_078906	1468	M>I	FSHD2 [UniProt]	Yes	UniProt
rs1598416020 CA401694992 RCV000805391	1481	V>I	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_080705	1485	P>L	FSHD2 [UniProt]	Yes	UniProt
RCV000850313 CA401695087 rs1329504858	1487	Q>*	Scapulohumeral muscular dystrophy [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
VAR_078907	1487	Q>HQ	FSHD2 [UniProt]	Yes	UniProt
rs756166672 RCV001238165 CA8871498	1506	R>H	Variant assessed as Somatic; 0.0 impact. Facioscapulohumeral muscular dystrophy 2 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA401696563 rs1198273154 RCV001345746	1526	D>N	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs770018521 RCV001341097 CA8871531 RCV000592922	1533	L>F	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000546576 rs368255259 CA8871530 RCV000325415	1533	L>S	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000556706 CA401696730 rs1555650440	1534	V>A	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA8871533 RCV001236496 rs749634060	1537	I>V	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs776704924 RCV001223191	1545	N>I	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinVar dbSNP
VAR_069072	1554	F>S	FSHD2; decreased protein level in fibroblasts as compared to wild-type protein [UniProt]	Yes	UniProt
CA8871546 RCV001067185 RCV000729833 rs569043880	1566	V>M	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
CA8871547 RCV001858840 rs750920961 RCV000996632	1567	N>S	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001208964 CA401697642 rs1428214885	1573	M>V	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs755339676 CA8871568 RCV000819206	1592	V>L	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001855823 RCV000734885 rs369179110 CA8871569 RCV002535398	1595	P>A	Facioscapulohumeral muscular dystrophy 2 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs770649222 RCV000592137 RCV002530997 CA8871571	1596	R>Q	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001349399 CA8871572 rs780994607	1599	L>I	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs769207224 RCV001296437 CA8871574	1600	L>V	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000311972 CA8871575 RCV001651309 RCV002503989 RCV000535300 rs147034750	1603	T>I	Arrhinia with choanal atresia and microphthalmia syndrome Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000696195 rs1568350731	1608	I>missing	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinVar dbSNP
rs2075942900 RCV001270829	1608	I>S	Arrhinia with choanal atresia and microphthalmia syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001241381 rs2075948990	1627	T>K	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinVar dbSNP
CA401682176 RCV000550055 rs1365539591 RCV000591992	1632	Q>E	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs370473143 RCV001867968 CA8871604 RCV000597780	1638	V>I	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_080706	1663	L>del	FSHD2 [UniProt]	Yes	UniProt
RCV000363995 COSM216427 CA8871638 rs368367743 RCV001060600 RCV002518937	1669	R>Q	Variant assessed as Somatic; 0.0 impact. pancreas Facioscapulohumeral muscular dystrophy 2 Inborn genetic diseases [NCI-TCGA, Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA8871640 RCV001342182 rs201071071 RCV000275554	1675	H>R	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA10606934 RCV002518151 rs769986044 RCV000273290	1680	P>A	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
COSM263785 RCV001854965 rs151311806 RCV000251991 RCV000726283 CA8871665	1709	S>L	Facioscapulohumeral muscular dystrophy 2 large_intestine [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA8871671 rs201221497 RCV000304621 RCV002521907	1719	S>G	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs2076057081 RCV001238181	1755	L>missing	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinVar dbSNP
RCV000819587 CA8871704 rs747553146	1779	I>V	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA295487887 RCV000808721 rs373881061	1786	D>N	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar ESP dbSNP gnomAD
VAR_078908	1795	R>del	FSHD2 [UniProt]	Yes	UniProt
RCV001070514 RCV000733739 CA295488292 rs1008517374	1799	L>W	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV003165740 RCV000285351 rs370249291 RCV001035805 CA8871719	1804	I>T	Facioscapulohumeral muscular dystrophy 2 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
VAR_078909	1868	R>del	FSHD2 [UniProt]	Yes	UniProt
rs374989057 RCV000639704 CA8871789	1925	D>E	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA401690768 rs1170346716 RCV001229634	1928	S>G	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs1405560459 CA401690888 RCV001197898	1933	L>H	Arrhinia with choanal atresia and microphthalmia syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs1598460238 RCV000809795 CA401690964	1938	M>V	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000591605 rs1345578577 RCV001860180 CA401691464	1963	P>A	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV000593216 RCV001867927 CA295491603 rs755578313	1965	R>P	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs778853203 RCV000730635 RCV001855750 CA8871817	1972	R>C	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs747849441 RCV001229564 CA8871818	1972	R>H	Facioscapulohumeral muscular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA8871846 rs959328 RCV001855196 RCV002521985 RCV000335607	2002	K>T	Facioscapulohumeral muscular dystrophy 2 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1555622203 RCV000593030	1	M>R		No	ClinVar dbSNP
CA295452697 rs575705966	3	A>G		No	ClinGen ExAC gnomAD
rs575705966 CA8870433	3	A>V		No	ClinGen ExAC gnomAD
CA8870435 rs759215545	4	A>G		No	ClinGen ExAC gnomAD
CA401684473 rs759215545	4	A>V		No	ClinGen ExAC gnomAD
CA295452720 rs376002312	5	D>G		No	ClinGen 1000Genomes
CA401684526 rs1228415644	6	G>D		No	ClinGen gnomAD
CA401684522 rs1228415644	6	G>V		No	ClinGen gnomAD
rs1317349864 CA401684536	7	G>D		No	ClinGen TOPMed
CA401684546 rs1555622217	8	G>E		No	ClinGen Ensembl
CA8870439 rs1555622217	8	G>V		No	ClinGen Ensembl
CA401684567 rs1209311489	9	P>L		No	ClinGen TOPMed gnomAD
CA295452783 rs920894669	10	G>D		No	ClinGen TOPMed
CA295452792 rs920894669	10	G>V		No	ClinGen TOPMed
CA295452800 rs955025983	12	A>D		No	ClinGen TOPMed gnomAD
rs763619769 CA401684613	12	A>S		No	ClinGen ExAC gnomAD
rs763619769 CA8870441	12	A>T		No	ClinGen ExAC gnomAD
CA401684617 rs955025983	12	A>V		No	ClinGen TOPMed gnomAD
CA401684628 rs1417252379	13	S>F		No	ClinGen TOPMed
rs559283578 CA401684634	14	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8870445 rs750240803	15	G>W		No	ClinGen ExAC TOPMed gnomAD
CA401684670 rs146441077	16	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1359696447 CA401684665	16	T>P		No	ClinGen gnomAD
CA8870447 rs146441077	16	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs753928122 CA8870448	17	E>D		No	ClinGen ExAC gnomAD
rs754962832 CA8870449	18	E>G		No	ClinGen ExAC gnomAD
rs748596758 CA401684723	19	D>Y		No	ClinGen ExAC gnomAD
CA401684750 rs1598264864	20	G>V		No	ClinGen Ensembl
CA401684759 rs1598264877	21	G>R		No	ClinGen Ensembl
CA401684819 rs1281293029	24	G>D		No	ClinGen gnomAD
CA401684851 rs1215446716	26	R>K		No	ClinGen gnomAD
rs747375741 CA8870454	26	R>W		No	ClinGen ExAC TOPMed gnomAD
CA8870456 rs544722733	27	T>K		No	ClinGen ExAC gnomAD
rs544722733 CA8870455	27	T>M		No	ClinGen ExAC gnomAD
rs1598264929 CA401684881	28	V>L		No	ClinGen Ensembl
CA401684942 rs1346793067	31	F>L		No	ClinGen TOPMed
rs925480851 CA295452896	36	K>E		No	ClinGen TOPMed
CA8870459 rs773867507	37	E>G		No	ClinGen ExAC gnomAD
rs373431539 CA8870458	37	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1347819772 CA401685065	38	S>F		No	ClinGen TOPMed
CA295452916 rs990903424	39	E>A		No	ClinGen TOPMed
RCV000591715 CA401685113 rs1555622312 CA401685117	41	G>R		No	ClinGen Ensembl ClinVar dbSNP
rs1555622310 RCV000593155	42	D>missing		No	ClinVar dbSNP
CA401685148 rs1390520275	42	D>E		No	ClinGen gnomAD
CA8870461 rs370792458	43	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs750199501 CA8870462	44	P>L		No	ClinGen ExAC gnomAD
rs1271107369 RCV000596718 CA401685165	44	P>T		No	ClinGen ClinVar TOPMed dbSNP
CA401685201 rs1216466849	46	Q>P		No	ClinGen TOPMed gnomAD
rs1598265091 CA401685218	47	V>G		No	ClinGen Ensembl
CA8870464 rs766215796	48	G>W		No	ClinGen ExAC gnomAD
rs1279507314 CA401685243	50	R>C		No	ClinGen TOPMed gnomAD
CA401685245 rs755255499	50	R>H		No	ClinGen ExAC gnomAD
rs755255499 CA8870466	50	R>P		No	ClinGen ExAC gnomAD
rs752893542 CA401685257	51	S>L		No	ClinGen ExAC gnomAD
CA8870468 rs752893542	51	S>W		No	ClinGen ExAC gnomAD
CA295452955 rs948673136	53	Y>F		No	ClinGen Ensembl
CA401685289 rs758944515	54	A>E		No	ClinGen ExAC TOPMed gnomAD
CA401685284 rs1215654409	54	A>T		No	ClinGen gnomAD
CA8870469 rs758944515	54	A>V		No	ClinGen ExAC TOPMed gnomAD
rs530954707 CA401685299	55	G>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs530954707 CA8870472	55	G>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA401685304 rs1320226662	56	F>L		No	ClinGen gnomAD
CA8870473 rs199633290	58	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA401685350 rs1414119028	60	V>L		No	ClinGen gnomAD
rs1472772718 CA401685358	61	C>R		No	ClinGen gnomAD
TCGA novel	62	Q>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	63	T>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA295459765 rs969088652	64	L>F		No	ClinGen Ensembl
rs981876921 CA295459768	65	G>D		No	ClinGen gnomAD
rs1312844288 CA401687237	66	I>M		No	ClinGen gnomAD
CA401687248 rs1339052681	67	S>L		No	ClinGen TOPMed gnomAD
TCGA novel	68	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1343624343 CA401687259	68	P>L		No	ClinGen TOPMed
COSM263769 CA401687274 COSM263770 rs1338984565	70	E>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
TCGA novel	72	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1036751168 CA295459787	74	I>V		No	ClinGen TOPMed
rs1226200954 CA401687335	75	T>A		No	ClinGen gnomAD
CA401687341 rs1276846957	75	T>I		No	ClinGen gnomAD
CA401687344 rs1598283100	76	T>A		No	ClinGen Ensembl
TCGA novel	81	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	81	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401687400 rs1254057755	81	E>K		No	ClinGen gnomAD
rs367836890 CA8870499	84	C>S		No	ClinGen ESP ExAC gnomAD
CA295460118 rs200521548	88	D>V	Facioscapulohumeral muscular dystrophy 2 (fshd2) [Ensembl]	No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs886816476 CA295460123	89	E>V		No	ClinGen TOPMed
rs746595850 CA8870520	90	T>A		No	ClinGen ExAC
CA401687564 rs1440181785	90	T>S		No	ClinGen gnomAD
CA401687598 rs1598284073	93	D>N		No	ClinGen Ensembl
RCV000993032 rs1598284093 CA401687718	99	L>P		No	ClinGen ClinVar Ensembl dbSNP
CA401687756 rs1326749819	101	Q>L		No	ClinGen gnomAD
CA401687770 rs1598284104	102	S>T		No	ClinGen Ensembl
rs1286123473 CA401687789	103	V>A		No	ClinGen TOPMed
CA8870527 rs768992208	103	V>F		No	ClinGen ExAC gnomAD
CA8870531 rs750886269	108	L>V		No	ClinGen ExAC gnomAD
TCGA novel	110	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401687897 rs1345786584	112	K>E		No	ClinGen TOPMed
TCGA novel	114	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766672538 CA8870533	116	D>E		No	ClinGen ExAC gnomAD
CA8870534 rs199676538	118	L>V		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	120	H>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	120	H>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401688112 rs1292075742	129	M>I		No	ClinGen gnomAD
rs369265747 CA8870536	129	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs780855590 CA8870539	142	P>S		No	ClinGen ExAC gnomAD
rs529369043 CA295463654	145	L>V		No	ClinGen 1000Genomes TOPMed gnomAD
rs886043899 CA401689228	146	A>G		No	ClinGen TOPMed gnomAD
RCV000389405 CA10606090 rs886043899	146	A>V		No	ClinGen ClinVar TOPMed dbSNP gnomAD
TCGA novel	147	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	157	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8870556 rs199543594	158	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs531460906 CA295463680	158	R>L		No	ClinGen ExAC TOPMed gnomAD
CA8870558 rs531460906	158	R>P		No	ClinGen ExAC TOPMed gnomAD
rs780192800 CA8870559	159	N>D		No	ClinGen ExAC gnomAD
rs1258456910 CA401689322	161	G>R		No	ClinGen gnomAD
rs748341516 CA8870563	162	V>A		No	ClinGen ExAC TOPMed gnomAD
CA8870562 rs778575281	162	V>I		No	ClinGen ExAC gnomAD
CA401689336 rs1358538701	164	R>G		No	ClinGen gnomAD
RCV000598356 CA401689349 rs1555626822	165	I>M		No	ClinGen ClinVar Ensembl dbSNP
TCGA novel	166	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs77268757 CA295464035	172	D>A		No	ClinGen Ensembl
CA295464038 rs892946805	174	T>A		No	ClinGen TOPMed
rs753740668 CA8870579	178	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1435114726 CA401690021	182	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA8870581 rs778754071	183	I>T		No	ClinGen ExAC gnomAD
CA8870580 rs754881998	183	I>V		No	ClinGen ExAC gnomAD
CA401690046 rs1284321183	184	D>V		No	ClinGen TOPMed
rs375259752 CA8870582	187	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA401690110 rs1304113219	190	T>P		No	ClinGen gnomAD
rs1459162980 CA401690118	190	T>S		No	ClinGen TOPMed
CA401690127 rs1324654144	191	S>C		No	ClinGen gnomAD
CA401690204 rs1466433685	198	A>T		No	ClinGen gnomAD
rs566937251 CA295464054	199	V>A		No	ClinGen Ensembl
rs1598294699 CA401690264	203	S>*		No	ClinGen Ensembl
rs1184311800 CA401690269	204	K>E		No	ClinGen TOPMed
rs1472101760 CA401690276	204	K>R		No	ClinGen gnomAD
rs368349787 CA295464068	209	G>S		No	ClinGen ESP TOPMed gnomAD
rs778017141 CA401690340	210	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1322518667 CA401690383	213	S>R		No	ClinGen gnomAD
rs1406536357 CA401692873	215	H>Q		No	ClinGen gnomAD
CA8870604 rs754937252	217	G>V		No	ClinGen ExAC gnomAD
CA8870605 rs765125820	219	V>I		No	ClinGen ExAC gnomAD
rs920749551 CA295469161	220	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
COSM3403482 CA8870607 COSM3403480 rs758139987	220	R>H	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
TCGA novel	221	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	225	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	225	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1012435079 CA295469169	226	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA401692979 rs1292580884	227	S>G		No	ClinGen gnomAD
CA295469177 rs371805529	229	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed
rs1276715674 CA401693019	231	D>E		No	ClinGen gnomAD
CA401693037 rs1438144826	233	S>T		No	ClinGen gnomAD
TCGA novel	240	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	245	F>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781330410 CA8870611	245	F>L		No	ClinGen ExAC gnomAD
CA295469184 rs561741953	245	F>S		No	ClinGen Ensembl
rs770315892 CA8870613	250	A>T		No	ClinGen ExAC TOPMed gnomAD
rs945999055 CA295469262	252	M>I		No	ClinGen Ensembl
rs756110596 CA8870638	252	M>L		No	ClinGen ExAC gnomAD
rs756110596 CA401693330	252	M>V		No	ClinGen ExAC gnomAD
rs867133507 CA295469268	257	A>T		No	ClinGen gnomAD
CA8870639 rs555230184	257	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs749751285 CA8870640	258	D>V		No	ClinGen ExAC TOPMed gnomAD
CA401693386 rs1432927464	260	Q>R		No	ClinGen gnomAD
rs866470006 CA295469273	263	H>N		No	ClinGen Ensembl
rs867104086 CA295469277	264	E>*		No	ClinGen Ensembl
rs867398351 CA295469279	267	L>F		No	ClinGen TOPMed gnomAD
CA295469282 rs867398351	267	L>V		No	ClinGen TOPMed gnomAD
CA8870642 rs779413791	268	S>A		No	ClinGen ExAC gnomAD
CA401693517 rs1346785948	273	E>G		No	ClinGen gnomAD
rs1598317618 CA401693533	274	K>R		No	ClinGen Ensembl
rs746679988	275	K>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA8870644 rs748561783	278	N>D		No	ClinGen ExAC gnomAD
rs770593719 CA8870645	280	E>G		No	ClinGen ExAC gnomAD
CA401693593 rs1450602562	281	A>T		No	ClinGen gnomAD
rs1598317669 CA401693598	282	I>V		No	ClinGen Ensembl
CA401693628 rs1361068910	286	Y>C		No	ClinGen TOPMed
CA401693642 rs1198709581	288	R>T		No	ClinGen gnomAD
TCGA novel	292	P>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1307410341 CA401694290	295	S>P		No	ClinGen gnomAD
rs1411437447 CA401694353	299	T>I		No	ClinGen gnomAD
CA401694500 rs1251827915	307	H>Y		No	ClinGen gnomAD
CA401694538 rs1359616018	308	H>Q		No	ClinGen gnomAD
TCGA novel	310	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8870663 rs778214060	311	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1021289739 CA295470986	311	I>T		No	ClinGen TOPMed
rs758650082 CA8870662	311	I>V		No	ClinGen ExAC gnomAD
rs373068672 CA295470992	327	V>L		No	ClinGen ESP TOPMed
rs1242569987 CA401694912	331	H>R		No	ClinGen TOPMed
CA401694933 rs1260391450	332	I>T		No	ClinGen gnomAD
TCGA novel	333	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1007636831 CA295470999	335	L>V		No	ClinGen Ensembl
TCGA novel	336	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768179761 CA8870668	337	N>S		No	ClinGen ExAC TOPMed gnomAD
CA8870669 rs774235219	338	Y>D		No	ClinGen ExAC gnomAD
CA401695083 rs1478524816	339	F>Y		No	ClinGen gnomAD
CA8870671 rs767154782	340	H>P		No	ClinGen ExAC TOPMed gnomAD
CA8870670 rs761819169	340	H>Y		No	ClinGen ExAC gnomAD
CA8870672 RCV000407290 COSM987379 rs370983669	344	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA401695237 rs1227032781	347	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs768091914 CA8870685	349	I>M		No	ClinGen ExAC gnomAD
rs1265179096 CA401696176	349	I>S		No	ClinGen gnomAD
CA401696187 rs1246260695	350	Y>C		No	ClinGen gnomAD
rs1246260695 CA401696188	350	Y>F		No	ClinGen gnomAD
CA401696180 rs1208391091	350	Y>H		No	ClinGen gnomAD
rs1486922836 CA401696237	352	Y>*		No	ClinGen gnomAD
CA401696288 rs1336592371	357	P>S		No	ClinGen TOPMed
TCGA novel	358	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	361	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401696351 rs1424377867	363	R>Q		No	ClinGen TOPMed gnomAD
rs1431191391 CA401696363	364	T>K		No	ClinGen gnomAD
CA401696373 rs1178345431	365	S>L		No	ClinGen gnomAD
rs941834096 CA295471635	366	K>N		No	ClinGen TOPMed
rs1429795488 CA401696474	372	N>S		No	ClinGen gnomAD
rs1456347365 CA401696513	374	I>T		No	ClinGen gnomAD
rs1176859184 CA401696540	375	D>V		No	ClinGen TOPMed
CA8870687 rs185618962	376	I>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA401696550 rs185618962	376	I>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1346401176 CA401696575	376	I>T		No	ClinGen gnomAD
rs185618962 CA401696552	376	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
RCV000356889 CA8870698 rs752031550	380	M>V		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs757580208 CA8870699	381	F>L		No	ClinGen ExAC TOPMed gnomAD
rs781545433 CA8870700	382	E>G		No	ClinGen ExAC gnomAD
rs1186137432 CA401696910	386	V>A		No	ClinGen gnomAD
rs753435352 CA8870701	386	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs754679117 CA8870702	387	P>L		No	ClinGen ExAC gnomAD
rs1423287130 CA401696932	388	K>R		No	ClinGen gnomAD
CA8870704 rs747731888	389	I>F		No	ClinGen ExAC TOPMed gnomAD
rs771879056 CA8870705	391	N>K		No	ClinGen ExAC gnomAD
CA401697082 rs1458565728	394	E>D		No	ClinGen TOPMed
CA8870707 rs201116324	394	E>G		No	ClinGen 1000Genomes ExAC gnomAD
rs776580571 CA8870709	395	I>M		No	ClinGen ExAC gnomAD
rs770782232 CA8870708	395	I>V		No	ClinGen ExAC gnomAD
TCGA novel	398	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401697207 rs1555632930 RCV000598177	399	M>I		No	ClinGen ClinVar Ensembl dbSNP
rs906795458 CA295471812	400	Q>H		No	ClinGen TOPMed
rs763041739 CA8870713	404	V>I		No	ClinGen ExAC TOPMed gnomAD
CA401697386 rs1410978221	408	A>T		No	ClinGen gnomAD
rs1445939190 CA401697433	410	S>G		No	ClinGen gnomAD
rs1165947109 CA401697439	410	S>N		No	ClinGen gnomAD
rs752040461 CA8870715	414	K>R		No	ClinGen ExAC gnomAD
TCGA novel	418	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	421	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1429457379 CA401697703	422	V>I		No	ClinGen gnomAD
CA8870716 rs762326009	423	V>A		No	ClinGen ExAC gnomAD
rs1210087689 CA401697798 COSM178416	427	I>M	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1356682578 CA401697804	428	R>C		No	ClinGen gnomAD
rs767850671 CA8870717	428	R>H		No	ClinGen ExAC TOPMed gnomAD
CA401697946 rs1248307231	436	R>T		No	ClinGen gnomAD
rs1568169300 CA401697969	438	T>A		No	ClinGen Ensembl
rs757884033 CA8870722	443	P>S		No	ClinGen ExAC gnomAD
rs762299567 CA8870734	451	D>E		No	ClinGen ExAC gnomAD
CA8870735 rs773540627	454	D>G		No	ClinGen ExAC gnomAD
CA401698884 RCV001260523 rs1471076468	456	D>G		No	ClinGen ClinVar dbSNP gnomAD
rs1380609385 CA401698955	460	I>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1387928574 CA401698951	460	I>T		No	ClinGen gnomAD
CA401698959 rs1320158689	461	L>V		No	ClinGen TOPMed gnomAD
CA401698966 rs1326976193	462	E>Q		No	ClinGen gnomAD
TCGA novel	462	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401699033 rs1325498529	467	G>R		No	ClinGen gnomAD
TCGA novel	469	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1447389449 CA401699077	470	P>S		No	ClinGen TOPMed
RCV000322129 rs886043188	474	C>missing		No	ClinVar dbSNP
CA401699292 rs1347835431	484	T>A		No	ClinGen gnomAD
TCGA novel	485	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401699323 rs1245512730	486	V>F		No	ClinGen gnomAD
CA401699449 rs1405329768	490	D>G		No	ClinGen gnomAD
rs1405329768 CA401699448	490	D>V		No	ClinGen gnomAD
RCV000728821 CA401699473 rs1568176024	491	W>C		No	ClinGen ClinVar Ensembl dbSNP
CA401699551 rs1333601885	496	K>N		No	ClinGen gnomAD
CA401699547 rs1165805610	496	K>R		No	ClinGen TOPMed
rs886043345 RCV000395977	497	K>missing		No	ClinVar dbSNP
rs779723664 CA8870747	498	R>K		No	ClinGen ExAC gnomAD
rs749508449 CA8870748	499	G>R		No	ClinGen ExAC gnomAD
rs1355109257 CA401699661	502	P>S		No	ClinGen TOPMed gnomAD
CA401699702 rs1222324371	504	E>D		No	ClinGen gnomAD
CA401699726 rs1188522532	506	Y>C		No	ClinGen TOPMed
rs774388103 CA8870750	507	N>S		No	ClinGen ExAC gnomAD
TCGA novel	510	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8870752 rs529791982	512	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1417522877 CA401699922	518	K>Q		No	ClinGen TOPMed gnomAD
CA8870753 rs773671422	518	K>R		No	ClinGen ExAC gnomAD
CA295472425 rs538961150	519	F>L		No	ClinGen 1000Genomes
RCV000597285 CA401699992 rs1555633547	522	S>R		No	ClinGen ClinVar Ensembl dbSNP
CA295472429 rs1049130127	528	F>Y		No	ClinGen Ensembl
rs780874216 CA8870755	532	E>*		No	ClinGen ExAC gnomAD
rs909392952 CA295472432	533	L>I		No	ClinGen Ensembl
rs1212947806 CA401700264	540	T>N		No	ClinGen TOPMed
rs763702341 CA401700278	541	L>H		No	ClinGen ExAC gnomAD
CA8870759 rs763702341	541	L>R		No	ClinGen ExAC gnomAD
rs1464615077 CA401700295	542	F>S		No	ClinGen gnomAD
CA401700400 rs1392763593	548	G>E		No	ClinGen gnomAD
rs1307279234 CA401700427	549	Q>H		No	ClinGen gnomAD
TCGA novel	554	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1568183325 RCV000730474	558	E>missing		No	ClinVar dbSNP
rs898707302 CA295455822	564	K>E		No	ClinGen Ensembl
CA295455831 rs199849786	566	C>S		No	ClinGen Ensembl
CA8870779 rs767119002	566	C>S		No	ClinGen ExAC gnomAD
rs750017186 CA8870780	568	E>K		No	ClinGen ExAC gnomAD
rs760625643 CA8870781	574	I>M		No	ClinGen ExAC gnomAD
CA401678304 rs1185791797	575	K>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1350902516 CA401678348	577	T>I		No	ClinGen TOPMed
CA295455845 rs780649474	581	G>E		No	ClinGen Ensembl
TCGA novel	583	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1430034247 CA401678447	585	R>C		No	ClinGen gnomAD
COSM1388272 CA401678470 rs1428385394	586	P>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs753839850 CA8870783	586	P>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	587	D>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1467898183 CA401678506	589	P>S		No	ClinGen TOPMed gnomAD
rs1467898183 CA401678502	589	P>T		No	ClinGen TOPMed gnomAD
CA10605457 rs886043386 RCV000316259	590	S>N		No	ClinGen ClinVar Ensembl dbSNP
TCGA novel	592	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401678566 rs1481857130	597	A>G		No	ClinGen gnomAD
CA8870785 rs778685582	600	A>V		No	ClinGen ExAC gnomAD
CA10606860 rs886044519 RCV000312597	601	A>S		No	ClinGen ClinVar TOPMed dbSNP
TCGA novel	603	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10604641 rs886042753 RCV000372656	604	W>R		No	ClinGen ClinVar Ensembl dbSNP
CA8870786 rs752860329	608	I>L		No	ClinGen ExAC gnomAD
CA401678641 rs1158163346	609	Y>N		No	ClinGen TOPMed
CA401678653 rs1345344385	610	K>R		No	ClinGen gnomAD
rs780773249 CA8870789	611	A>E		No	ClinGen ExAC TOPMed gnomAD
rs771063917 CA8870790	612	G>V		No	ClinGen ExAC gnomAD
rs746389470 CA8870792	614	L>P		No	ClinGen ExAC gnomAD
rs373503630 CA8870791	614	L>V		No	ClinGen ESP ExAC gnomAD
TCGA novel	615	V>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401679443 rs1201342079	615	V>L		No	ClinGen TOPMed
CA401679463 RCV000729638 rs1568188312	616	K>N		No	ClinGen ClinVar Ensembl dbSNP
CA401679506 rs1423351860	620	T>S		No	ClinGen gnomAD
TCGA novel	623	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV000356551 rs886042326 CA10604085	623	L>I		No	ClinGen ClinVar Ensembl dbSNP
rs1568188407 RCV000733410	624	F>missing		No	ClinVar dbSNP
CA401679539 rs1441731584	625	Y>C		No	ClinGen gnomAD
CA401679536 rs1350897261	625	Y>H		No	ClinGen TOPMed gnomAD
rs1568188444 CA401679552	627	S>N		No	ClinGen Ensembl
CA401679558 rs1296681892	628	I>V		No	ClinGen gnomAD
TCGA novel	630	R>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8870827 rs746681681	630	R>T		No	ClinGen ExAC gnomAD
TCGA novel	631	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs373093731 CA295457178	634	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed
CA8870829 rs776263440	636	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1598342592 RCV000993030	639	G>missing		No	ClinVar dbSNP
CA401679640 rs1248130436	640	E>Q		No	ClinGen gnomAD
rs377559548 CA8870830	641	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1201929244 CA401679667	644	T>A		No	ClinGen gnomAD
CA8870832 rs775428652	648	V>F		No	ClinGen ExAC TOPMed gnomAD
CA401679693 rs775428652	648	V>I		No	ClinGen ExAC TOPMed gnomAD
CA8870834 rs763953165	649	Q>E		No	ClinGen ExAC gnomAD
rs755873345 CA8870836	651	A>V		No	ClinGen ExAC gnomAD
CA401679718 rs1166079572	652	M>V		No	ClinGen TOPMed gnomAD
CA401679741 rs1190138661	653	E>V		No	ClinGen gnomAD
CA401679770 rs1421602014	658	Y>H		No	ClinGen gnomAD
CA401679782 rs1475262779	659	D>G		No	ClinGen gnomAD
CA401679795 rs1166492993	661	V>I		No	ClinGen TOPMed gnomAD
rs371084711 CA8870855	663	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs569848506 CA8870856	663	T>N		No	ClinGen 1000Genomes ExAC gnomAD
CA8870858 rs756225923	672	T>I		No	ClinGen ExAC gnomAD
CA401679874 rs1334682910	674	A>S		No	ClinGen gnomAD
rs188187431 CA8870861	678	V>D		No	ClinGen 1000Genomes ExAC gnomAD
rs766211852	680	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779143991 CA8870863	681	Y>C		No	ClinGen ExAC gnomAD
rs1325014657 CA401679978	683	E>K		No	ClinGen gnomAD
rs1568190634 CA401680003	686	M>L		No	ClinGen Ensembl
CA8870864 rs753146109	686	M>R		No	ClinGen ExAC gnomAD
CA401680034 rs1435128056	688	R>S		No	ClinGen gnomAD
rs1395507746 CA401680037	689	L>F		No	ClinGen TOPMed
CA295458343 rs758721278	691	D>E		No	ClinGen ExAC TOPMed gnomAD
CA401680053 rs1459739939	692	R>G		No	ClinGen TOPMed
CA8870884 rs138953923	692	R>K		No	ClinGen 1000Genomes ExAC gnomAD
CA8870885 rs138953923	692	R>T		No	ClinGen 1000Genomes ExAC gnomAD
CA401680138 rs1367288064	704	L>S		No	ClinGen gnomAD
rs768068946 CA8870889	705	P>L		No	ClinGen ExAC TOPMed gnomAD
CA401680163 rs2276092	708	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs2276092 CA401680164	708	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8870891 rs748044171	710	P>S		No	ClinGen ExAC TOPMed gnomAD
CA401680180 rs1245981852	711	A>T		No	ClinGen gnomAD
rs771846680 CA8870892	712	G>V		No	ClinGen ExAC gnomAD
rs1555635144 RCV000593207	715	I>missing		No	ClinVar dbSNP
rs926163180 CA295458390	715	I>V		No	ClinGen TOPMed gnomAD
CA401680231 rs1319682877	717	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA295458582 rs756850648	721	E>Q		No	ClinGen Ensembl
rs568325069 CA295458584	724	N>S		No	ClinGen Ensembl
rs775497327 CA8870916	725	K>E		No	ClinGen ExAC
TCGA novel	727	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401680297 rs1418900866	727	G>W		No	ClinGen TOPMed
rs370846437 CA8870919	729	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs778564162 CA8870920	730	M>I		No	ClinGen ExAC TOPMed gnomAD
CA401680421 rs1404637370	745	L>M		No	ClinGen gnomAD
rs1026317745 CA295458613	746	V>I		No	ClinGen gnomAD
rs1208832768 CA401680459	747	E>D		No	ClinGen TOPMed
rs1352932249 CA401680509	751	I>N		No	ClinGen TOPMed
rs1330312760 CA401680876	761	I>T		No	ClinGen TOPMed
TCGA novel	764	H>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401680942 rs1258926987	767	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs866524061 CA295464498	769	G>R		No	ClinGen Ensembl
TCGA novel	772	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV000290291 CA10606661 rs886044357	780	E>K		No	ClinGen ClinVar Ensembl dbSNP
CA401681177 rs1568224643	783	Q>H		No	ClinGen Ensembl
TCGA novel	791	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8870956 rs755956027	791	K>R		No	ClinGen ExAC gnomAD
CA401681261 rs1480135119	795	V>G		No	ClinGen gnomAD
rs749513873 CA8870958	797	N>S		No	ClinGen ExAC TOPMed gnomAD
CA295464578 rs779024826	801	A>S		No	ClinGen ExAC TOPMed gnomAD
CA8870960 rs779024826	801	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1384932738 CA401681316	803	T>S		No	ClinGen gnomAD
rs748652710 CA8870961	805	A>V		No	ClinGen ExAC gnomAD
rs1598360662 CA401681366	811	S>F		No	ClinGen Ensembl
CA401681368 rs1376711784	812	K>E		No	ClinGen gnomAD
rs1329386760 CA401681380	813	A>V		No	ClinGen gnomAD
rs1237135773 CA401681385	814	I>T		No	ClinGen gnomAD
rs1435883093 CA401681443	820	E>V		No	ClinGen TOPMed gnomAD
rs1279736167 CA401681449	821	G>D		No	ClinGen gnomAD
rs778936853 CA8870978	821	G>S		No	ClinGen ExAC gnomAD
rs748280685 COSM987398 CA8870979	824	E>D	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA401681467 rs1568234923	824	E>Q		No	ClinGen Ensembl
CA8870980 rs772216699	825	K>N		No	ClinGen ExAC gnomAD
TCGA novel	826	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778103153 CA8870981	828	F>I		No	ClinGen ExAC gnomAD
rs778103153 CA8870982	828	F>L		No	ClinGen ExAC gnomAD
rs1568234991 CA401681495	828	F>S		No	ClinGen Ensembl
rs369540735 CA8870983	832	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA401681532 rs1477701456	834	P>S		No	ClinGen gnomAD
rs762661772 COSM1611154 RCV000353143 CA8870985	836	R>H	liver [Cosmic]	No	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
rs762661772 CA401681546	836	R>L		No	ClinGen ExAC TOPMed gnomAD
CA8870986 rs768472360	837	V>A		No	ClinGen ExAC gnomAD
rs774168156 CA295466303	839	V>F		No	ClinGen ExAC gnomAD
rs774168156 CA8870987	839	V>I		No	ClinGen ExAC gnomAD
TCGA novel	845	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401681599 rs1173599215	845	L>V		No	ClinGen gnomAD
CA8870992 rs766086191	854	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1299863595 CA401681671	855	S>G		No	ClinGen gnomAD
CA8870994 rs372946944	858	V>I		No	ClinGen ESP ExAC gnomAD
rs1568235290 CA401681700	859	T>I		No	ClinGen Ensembl
rs1568235349 COSM473722 CA401681705	860	D>G	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs910504670 CA401681702	860	D>N		No	ClinGen gnomAD
rs910504670 CA295466316	860	D>Y		No	ClinGen gnomAD
rs765399153 CA8870995	861	I>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	865	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401681932 rs548397345	869	G>A	Facioscapulohumeral muscular dystrophy 2 (fshd2) [Ensembl]	No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8871023 rs548397345	869	G>D	Facioscapulohumeral muscular dystrophy 2 (fshd2) [Ensembl]	No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8871024 rs756485398	870	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1405635744 CA401681962	872	L>F		No	ClinGen gnomAD
CA401682005 rs1327597198	875	E>G		No	ClinGen gnomAD
CA401682048 rs1374033390	878	T>N		No	ClinGen gnomAD
CA8871026 rs671942	879	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs671942 CA295467224	879	K>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA401682085 rs1378050411	881	P>L		No	ClinGen gnomAD
rs746483578 CA8871029	882	N>H		No	ClinGen ExAC gnomAD
rs1264098854 CA401682109	883	C>Y		No	ClinGen TOPMed gnomAD
COSM1388299 rs201632358 CA401682148	886	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA401682151 rs372815104	886	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8871031 rs372815104	886	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA401682186 rs1257434383	889	T>I		No	ClinGen TOPMed gnomAD
TCGA novel	889	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401682184 rs1257434383	889	T>R		No	ClinGen TOPMed gnomAD
rs1456503122 CA401682188	890	A>T		No	ClinGen gnomAD
CA8871032 rs759484338 COSM3932819	890	A>V	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs769566825 CA8871033	892	G>V		No	ClinGen ExAC gnomAD
CA295467245 rs900090358	893	P>L		No	ClinGen Ensembl
CA8871034 rs775394344	893	P>S		No	ClinGen ExAC gnomAD
rs1472889420 CA401682242	894	V>G		No	ClinGen gnomAD
CA8871035 rs763061108	894	V>I		No	ClinGen ExAC gnomAD
rs1169524212 CA401682269	896	S>F		No	ClinGen gnomAD
CA401682278 rs1397452324	897	C>Y		No	ClinGen gnomAD
CA8871036 rs764328186	899	G>S		No	ClinGen ExAC gnomAD
CA401682451 rs1229578970	902	Y>C		No	ClinGen TOPMed gnomAD
CA401682473 rs1404747373	905	K>T		No	ClinGen TOPMed gnomAD
CA401682478 rs1415804854	906	V>I		No	ClinGen gnomAD
CA401682484 rs1298021549	907	T>A		No	ClinGen gnomAD
CA295467799 rs866713731	908	L>M		No	ClinGen Ensembl
CA295467805 COSM987404 rs868405096	910	G>D	ovary Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA295467808 rs770371694	911	L>V		No	ClinGen ExAC TOPMed gnomAD
rs539501996 CA401682526	914	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs539501996 CA8871049	914	D>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA401682536 rs1311684655	915	S>*		No	ClinGen gnomAD
CA8871050 rs745803825	917	I>N		No	ClinGen ExAC gnomAD
CA401682558 rs1257713803	918	L>F		No	ClinGen gnomAD
CA8871063 rs779158688	926	H>N		No	ClinGen ExAC TOPMed gnomAD
CA401683122 rs1378812355	926	H>Q		No	ClinGen gnomAD
CA401683118 rs779158688	926	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs751199929 CA8871064	927	P>S		No	ClinGen ExAC
rs377447237 CA8871065	928	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA401683131 rs1160353418	928	R>H		No	ClinGen TOPMed gnomAD
CA8871066 rs374128267	929	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA401683167 rs1295351709	934	P>S		No	ClinGen gnomAD
CA295468361 rs370779979	935	D>E		No	ClinGen ESP
rs1371839810 CA401683171	935	D>N		No	ClinGen gnomAD
rs183754328 CA8871068	938	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
RCV000591583 rs779974698 CA8871069	940	V>I		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs749192798 CA8871070	941	I>T		No	ClinGen ExAC TOPMed gnomAD
CA401683212 rs1378769716	941	I>V		No	ClinGen TOPMed gnomAD
rs1288925515 CA401683220	942	E>G		No	ClinGen gnomAD
CA401683230 rs1319546596	943	N>K		No	ClinGen gnomAD
CA8871071 rs768481138	944	G>R		No	ClinGen ExAC
rs899506778 CA295468369	945	T>A		No	ClinGen TOPMed gnomAD
rs774077337 CA8871072	945	T>I		No	ClinGen ExAC gnomAD
CA401683254 rs1456934204	946	A>T		No	ClinGen gnomAD
rs772474961 CA8871074	947	F>L		No	ClinGen ExAC gnomAD
CA401683324 rs1568250201	950	Q>H		No	ClinGen Ensembl
CA8871076 rs760801704	951	V>M		No	ClinGen ExAC TOPMed gnomAD
rs766378396 CA8871077	953	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1388618344 CA401683382	954	L>F		No	ClinGen TOPMed
rs1404860769 CA401683378	954	L>S		No	ClinGen TOPMed
rs967876530 CA295468399	954	L>V		No	ClinGen TOPMed gnomAD
CA401683493 rs1329445556	962	A>V		No	ClinGen gnomAD
rs1442919042 CA401683562	968	V>I		No	ClinGen gnomAD
CA8871081 rs375900120	969	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	973	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765714307 CA8871099	974	G>S		No	ClinGen ExAC gnomAD
rs776007020 CA8871100	975	A>V		No	ClinGen ExAC gnomAD
CA401683861 rs750059350	976	P>A		No	ClinGen ExAC TOPMed gnomAD
rs750059350 CA8871103	976	P>S		No	ClinGen ExAC TOPMed gnomAD
CA401683881 rs1375180513	977	N>I		No	ClinGen TOPMed
rs1598376590 CA401683928	981	Y>C		No	ClinGen Ensembl
rs753335601 CA8871106	984	D>G		No	ClinGen ExAC gnomAD
TCGA novel	984	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs893424523 CA295468693	985	C>G		No	ClinGen TOPMed
CA401683991 rs1422937336	986	S>G		No	ClinGen gnomAD
rs1416168725 CA401683995	986	S>N		No	ClinGen gnomAD
rs868294193 CA295468702	987	S>I		No	ClinGen Ensembl
rs868294193 CA401684011	987	S>N		No	ClinGen Ensembl
CA401684025 rs1174013668	988	S>C		No	ClinGen gnomAD
CA8871108 rs200174532	990	T>I		No	ClinGen 1000Genomes ExAC gnomAD
CA401684043 rs1359675557	990	T>S		No	ClinGen gnomAD
rs1158067842 CA401684095 COSM3742581	994	T>I	liver [Cosmic]	No	ClinGen cosmic curated TOPMed
CA401684111 rs1343491554	996	S>C		No	ClinGen gnomAD
rs777768323 CA8871111	1003	I>V		No	ClinGen ExAC gnomAD
CA8871112 rs368934220	1006	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1006	D>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1568252824	1006	D>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1007	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771100083 CA8871113	1008	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1023112001 CA295468739	1009	L>V		No	ClinGen TOPMed
rs1447839490 CA401684335	1010	K>E		No	ClinGen TOPMed gnomAD
rs865915990 CA295468742	1011	A>E		No	ClinGen Ensembl
CA295468745 rs868502855 COSM263776	1012	R>I	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs560787848 CA295468748	1015	I>V		No	ClinGen 1000Genomes
rs769920999 CA401684461	1016	P>A		No	ClinGen ExAC gnomAD
CA295468761 rs528154864	1016	P>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8871116 rs769920999	1016	P>S		No	ClinGen ExAC gnomAD
rs998650409 CA295469621	1020	D>V		No	ClinGen Ensembl
CA401685469 rs1231660567	1021	V>M		No	ClinGen TOPMed
CA401685483 rs757100557	1023	P>H		No	ClinGen ExAC gnomAD
CA8871132 rs757100557	1023	P>L		No	ClinGen ExAC gnomAD
rs190723918 CA8871131	1023	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	1027	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs183236583 CA8871136	1036	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA401685579 rs1395984428	1037	A>V		No	ClinGen gnomAD
TCGA novel	1038	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1039	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8871138 rs769199963	1041	I>V		No	ClinGen ExAC gnomAD
rs561778813 CA8871139	1042	F>L		No	ClinGen 1000Genomes ExAC gnomAD
rs561778813 CA8871140	1042	F>V		No	ClinGen 1000Genomes ExAC gnomAD
CA8871141 rs772491920	1042	F>Y		No	ClinGen ExAC TOPMed gnomAD
rs1598380585 CA401685618	1043	S>I		No	ClinGen Ensembl
CA295469652 rs1024960238	1044	V>A		No	ClinGen TOPMed
TCGA novel	1047	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401685656 rs1282662919	1049	A>T		No	ClinGen TOPMed gnomAD
CA401685679 rs1337282204	1052	I>F		No	ClinGen TOPMed gnomAD
rs1337282204 CA401685678	1052	I>V		No	ClinGen TOPMed gnomAD
rs1598380632 CA401685719	1057	E>A		No	ClinGen Ensembl
TCGA novel	1057	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs373566118 CA401685725	1058	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs373566118 CA8871143	1058	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA401685742 rs1456378994	1060	W>L		No	ClinGen gnomAD
CA8871144 rs764839018	1061	I>K		No	ClinGen ExAC gnomAD
CA8871145 rs752298965	1062	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8871147 rs764076509	1065	I>T		No	ClinGen ExAC gnomAD
rs1568261067 RCV000731791	1066	M>missing		No	ClinVar dbSNP
CA8871148 rs754751058	1066	M>C		No	ClinGen ExAC
CA8871149 rs751517069	1066	M>I		No	ClinGen ExAC gnomAD
CA401685810 rs1475369340	1067	H>R		No	ClinGen gnomAD
CA8871150 rs756941724	1069	L>F		No	ClinGen ExAC gnomAD
TCGA novel	1071	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401685893 rs1370032848	1073	M>I		No	ClinGen TOPMed
RCV000261917 rs886043182	1080	E>missing		No	ClinVar dbSNP
TCGA novel	1080	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1397593980 CA401685982	1080	E>K		No	ClinGen gnomAD
rs1415690544 CA401685994	1081	I>N		No	ClinGen gnomAD
CA8871155 rs749316082	1083	I>T		No	ClinGen ExAC
rs199901577 CA8871154	1083	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA401686027 rs1598380776	1084	T>A		No	ClinGen Ensembl
CA401686042 rs1198483723	1086	A>T		No	ClinGen TOPMed gnomAD
TCGA novel	1091	I>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1598388065 CA401686813	1093	V>A		No	ClinGen Ensembl
rs761872651 CA8871171	1094	N>S		No	ClinGen ExAC gnomAD
rs767185365 CA8871172	1096	T>I		No	ClinGen ExAC gnomAD
TCGA novel	1096	T>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1289462544 CA401686837	1097	P>S		No	ClinGen gnomAD
rs1390113913 CA401686886	1103	H>Q		No	ClinGen gnomAD
rs929636155 CA295476244	1103	H>Y		No	ClinGen Ensembl
CA8871174 rs756532473	1106	Q>E		No	ClinGen ExAC gnomAD
CA401686907 rs1239118987	1107	G>C		No	ClinGen gnomAD
rs1239118987 CA401686905	1107	G>S		No	ClinGen gnomAD
TCGA novel	1114	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1487238736 CA401686968	1117	S>A		No	ClinGen gnomAD
rs748598412 CA8871179	1117	S>F		No	ClinGen ExAC TOPMed gnomAD
CA8871181 rs370209852	1121	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1122	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401687003 rs1188737588	1122	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs35520862 CA295476269	1124	C>*		No	ClinGen Ensembl
CA401687028 rs749490704	1125	Q>H		No	ClinGen gnomAD
rs1406256013 CA401687033	1126	V>A		No	ClinGen gnomAD
rs1476026273 CA401687047	1128	F>L		No	ClinGen TOPMed
rs375371574 CA8871183	1130	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1459917541 CA401687072	1132	H>N		No	ClinGen gnomAD
CA8871185 rs749003523	1133	V>G		No	ClinGen ExAC gnomAD
rs1328050133 CA401687080	1133	V>M		No	ClinGen gnomAD
CA8871186 rs768044146	1137	S>N		No	ClinGen ExAC TOPMed gnomAD
rs367884971 CA8871188	1141	V>L		No	ClinGen ESP ExAC gnomAD
rs867766926 CA295476622	1145	P>L		No	ClinGen Ensembl
rs773078051 CA8871209	1146	D>G		No	ClinGen ExAC gnomAD
rs771484529 CA8871208	1146	D>N		No	ClinGen ExAC gnomAD
CA8871211 rs776450805	1150	H>Y		No	ClinGen ExAC gnomAD
rs759659672 CA8871212	1151	L>I		No	ClinGen ExAC TOPMed gnomAD
CA8871213 rs765454844	1152	K>Q		No	ClinGen ExAC gnomAD
CA401687922 rs1184910900	1161	V>G		No	ClinGen gnomAD
rs367808331 CA295476650	1164	G>D		No	ClinGen ESP TOPMed
CA401687995 rs1475916448	1166	E>V		No	ClinGen TOPMed
rs752104741 CA8871217	1169	G>R		No	ClinGen ExAC gnomAD
TCGA novel	1169	G>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747599110 CA295477103	1172	V>A		No	ClinGen Ensembl
rs1303346986 CA401688206	1173	I>L		No	ClinGen TOPMed gnomAD
rs375000561 CA295477106	1173	I>T		No	ClinGen ESP
rs1303346986 CA401688202	1173	I>V		No	ClinGen TOPMed gnomAD
rs1236918219 CA401688242	1174	I>L		No	ClinGen gnomAD
rs879334774 CA295477113	1176	T>A		No	ClinGen Ensembl
rs886042310 CA10604068	1176	T>M		No	ClinGen Ensembl
TCGA novel	1179	Y>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768096462 CA8871240	1180	G>R		No	ClinGen ExAC TOPMed gnomAD
CA8871242 rs757626505	1182	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA401688422 rs1568281038	1182	Q>K		No	ClinGen Ensembl
rs750897590 CA8871241	1182	Q>L		No	ClinGen ExAC TOPMed gnomAD
rs932642471 CA295477122	1183	I>M		No	ClinGen TOPMed
CA401688465 rs1469819950	1183	I>S		No	ClinGen gnomAD
rs766713985 CA8871243	1185	A>T		No	ClinGen ExAC TOPMed gnomAD
rs752391984 CA8871245	1192	S>F		No	ClinGen ExAC gnomAD
CA295477130 rs912606817	1192	S>P		No	ClinGen Ensembl
rs1030945558 CA295477133	1193	S>P		No	ClinGen TOPMed
CA401688710 rs1392914128	1195	S>*		No	ClinGen gnomAD
rs1323361009 CA401688704	1195	S>P		No	ClinGen gnomAD
CA401688724 rs1443828515	1196	I>F		No	ClinGen TOPMed gnomAD
rs1443828515 CA401688721	1196	I>V		No	ClinGen TOPMed gnomAD
rs1326932194 CA401688750	1197	A>G		No	ClinGen gnomAD
CA401688766 rs1479014680	1198	G>A		No	ClinGen TOPMed
rs376586199 CA8871247	1199	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs758026848 CA8871246	1199	V>F		No	ClinGen ExAC gnomAD
CA295477140 rs539377223	1202	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA401688872 rs1232746002	1204	S>P		No	ClinGen TOPMed gnomAD
rs969131412 CA295477143	1205	N>D		No	ClinGen TOPMed gnomAD
CA401688892 rs969131412	1205	N>Y		No	ClinGen TOPMed gnomAD
rs1214246455 CA401688931	1207	K>E		No	ClinGen gnomAD
rs1249504713 CA401688935	1207	K>R		No	ClinGen gnomAD
rs745810454 CA8871251 RCV000728015	1209	T>A		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA401689001 rs1183787341	1211	Q>L		No	ClinGen gnomAD
rs1415446634 CA401689395	1212	E>A		No	ClinGen gnomAD
rs964865705 CA295477923	1215	Q>H		No	ClinGen TOPMed
CA295477925 rs975216457	1216	S>C		No	ClinGen TOPMed gnomAD
CA401689420 rs975216457	1216	S>R		No	ClinGen TOPMed gnomAD
rs1229537807 CA401689432	1217	I>M		No	ClinGen gnomAD
CA295477928 rs958675723	1217	I>V		No	ClinGen TOPMed
CA8871274 rs756052658	1218	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1314848187 CA401689442	1219	V>L		No	ClinGen gnomAD
CA401689448 rs1208221749	1220	R>K		No	ClinGen gnomAD
rs748992678 CA8871276	1226	P>Q		No	ClinGen ExAC gnomAD
rs780058517 CA8871275	1226	P>T		No	ClinGen ExAC gnomAD
CA8871277 rs768574438	1227	G>D		No	ClinGen ExAC gnomAD
CA401689494 rs1204021010	1227	G>S		No	ClinGen gnomAD
rs774657148 CA8871278	1228	P>A		No	ClinGen ExAC TOPMed gnomAD
CA401689502 rs1195988958	1228	P>L		No	ClinGen gnomAD
CA401689498 rs774657148	1228	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1391113980 CA401689505	1229	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs748437378 CA8871279	1230	G>A		No	ClinGen ExAC TOPMed gnomAD
CA401689512 rs748437378	1230	G>E		No	ClinGen ExAC TOPMed gnomAD
CA8871280 rs772276172	1231	N>K		No	ClinGen ExAC gnomAD
CA401689533 rs1466799195	1233	D>G		No	ClinGen gnomAD
CA401689538 rs1214211314	1234	L>V		No	ClinGen TOPMed
CA8871281 rs773207735	1236	F>C		No	ClinGen ExAC gnomAD
rs771294371 CA8871283	1239	R>S		No	ClinGen ExAC TOPMed gnomAD
CA10606671 RCV000326131 rs886044366	1240	E>Q		No	ClinGen ClinVar Ensembl dbSNP
rs760382956 CA295477949	1243	D>E		No	ClinGen TOPMed
CA401689601 rs1353629958	1243	D>G		No	ClinGen TOPMed
rs576524050 CA295477955	1245	I>N		No	ClinGen 1000Genomes gnomAD
CA8871287 rs751203603	1246	R>L		No	ClinGen ExAC gnomAD
rs767029395 CA8871289	1247	V>M		No	ClinGen ExAC gnomAD
rs936898120 CA295477964	1248	Q>P		No	ClinGen TOPMed gnomAD
rs1192135120 CA401689679	1254	P>L		No	ClinGen gnomAD
rs755677576 CA401689672	1254	P>S		No	ClinGen ExAC gnomAD
rs1397291608 CA401689697	1256	K>R		No	ClinGen gnomAD
CA401689713 rs1303967256	1258	L>V		No	ClinGen TOPMed
rs191410697 CA8871295	1260	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA8871296 rs370499835	1265	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1405054780 CA401689789	1265	L>V		No	ClinGen TOPMed
CA8871317 rs747273027	1268	S>F		No	ClinGen ExAC gnomAD
COSM277386 CA8871318 rs770904056	1270	P>S	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA8871319 rs781318656	1272	I>T		No	ClinGen ExAC TOPMed gnomAD
CA8871320 rs746349193	1275	R>S		No	ClinGen ExAC gnomAD
rs1034614930 CA295478802 COSM1388362	1276	D>Y	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA401690600 rs1598399280	1278	Q>R		No	ClinGen Ensembl
rs1322896954 CA401690635	1280	P>A		No	ClinGen TOPMed gnomAD
rs770234857 CA8871321	1280	P>R		No	ClinGen ExAC TOPMed gnomAD
RCV000594243 CA401690630 rs1322896954	1280	P>T		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA8871324 rs769077908	1282	I>F		No	ClinGen ExAC gnomAD
rs772726057 CA8871325	1283	V>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1288	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA295478810 rs1015840561	1288	Q>L		No	ClinGen TOPMed
rs765773540 CA8871327	1290	D>G		No	ClinGen ExAC gnomAD
CA401690891 rs1243972252	1295	V>L		No	ClinGen TOPMed
rs758075470 RCV001265213	1297	H>Q		No	ClinVar dbSNP
CA8871333 rs764012354	1300	I>K		No	ClinGen ExAC gnomAD
rs1215314026 CA401691031	1302	L>H		No	ClinGen TOPMed
CA401691041 rs1335285728	1303	T>K		No	ClinGen TOPMed
CA401691081 rs1344779917	1305	A>S		No	ClinGen gnomAD
rs757542791 CA8871335	1306	S>N		No	ClinGen ExAC gnomAD
rs1229591475 CA401691368	1311	M>V		No	ClinGen gnomAD
CA401691377 rs1303203828	1312	P>A		No	ClinGen TOPMed gnomAD
rs983997267 CA295479412	1312	P>L		No	ClinGen Ensembl
CA401691386 rs1345926097	1313	S>L		No	ClinGen gnomAD
rs776456103 CA401691410	1316	Q>H		No	ClinGen ExAC gnomAD
rs1378816673 CA401691408	1316	Q>L		No	ClinGen Ensembl
rs776846650 CA401691467	1320	D>E		No	ClinGen Ensembl
CA401691448 rs1213798898	1320	D>N		No	ClinGen gnomAD
CA401691489 rs1249785850	1322	K>T		No	ClinGen gnomAD
CA401691505 rs1465344496	1324	R>G		No	ClinGen gnomAD
rs1393038341 CA401691564	1328	G>R		No	ClinGen TOPMed gnomAD
rs775557238 CA8871350	1329	V>I		No	ClinGen ExAC gnomAD
rs775557238 CA401691575	1329	V>L		No	ClinGen ExAC gnomAD
rs866570710 CA295479424	1334	A>V		No	ClinGen Ensembl
rs1398421346 CA401691659	1335	P>L		No	ClinGen gnomAD
rs538153584 CA8871371	1338	E>D		No	ClinGen 1000Genomes ExAC gnomAD
rs1316867437 CA401691751	1339	H>Y		No	ClinGen TOPMed
CA8871372 rs775109874	1342	Q>R		No	ClinGen ExAC gnomAD
CA8871373 rs762781766	1343	V>I		No	ClinGen ExAC gnomAD
rs1568305899 CA401691837	1346	I>V		No	ClinGen Ensembl
RCV000594427 CA295479485 rs774156694	1347	Y>C		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA8871375 rs774156694	1347	Y>S		No	ClinGen ExAC TOPMed gnomAD
CA295479487 rs761608747	1352	I>L		No	ClinGen ExAC TOPMed gnomAD
rs761608747 CA8871376	1352	I>V		No	ClinGen ExAC TOPMed gnomAD
rs750637739 CA8871378	1357	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1462489927 CA401692015	1358	K>R		No	ClinGen gnomAD
rs1435650510 CA401692035	1359	L>F		No	ClinGen gnomAD
rs1183940227 CA401692047	1360	M>I		No	ClinGen gnomAD
CA8871380 rs367680898 RCV000595839	1363	P>A		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA401692103 rs1478167913	1364	D>E		No	ClinGen Ensembl
rs1419024915 CA401692101	1364	D>G		No	ClinGen TOPMed
CA8871381 rs753905361	1365	P>A		No	ClinGen ExAC gnomAD
rs755044587 CA8871382	1365	P>L		No	ClinGen ExAC gnomAD
rs185137363 CA8871386	1370	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA401692187 rs1371441365	1372	N>D		No	ClinGen gnomAD
CA295479504 COSM1611163 rs538621932	1372	N>S	liver [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1291576778 CA401692258	1377	K>N		No	ClinGen gnomAD
CA295479509 rs985072806	1377	K>R		No	ClinGen Ensembl
rs1157560234 CA401692274	1378	D>G		No	ClinGen Ensembl
rs769623229 CA401692283	1379	A>E		No	ClinGen ExAC TOPMed gnomAD
rs1568306321 CA913191153 RCV000734578	1379	A>T		No	ClinGen ClinVar Ensembl dbSNP
RCV000734567 CA295479511 rs1039632433	1379	A>T		No	ClinGen ClinVar TOPMed dbSNP
rs769623229 CA8871388 COSM178433	1379	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA401692299 rs1269338733	1380	S>F		No	ClinGen gnomAD
rs943615094 CA295479517	1381	F>L		No	ClinGen gnomAD
rs748760814 CA8871390	1381	F>S		No	ClinGen ExAC gnomAD
rs371894734 CA8871391	1383	A>V		No	ClinGen ESP ExAC gnomAD
CA401692336 rs1485181402	1384	G>W		No	ClinGen gnomAD
rs1416552666 CA401692404	1389	D>N		No	ClinGen gnomAD
TCGA novel	1390	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs369758530 CA295479716	1393	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs748949554 CA8871411	1398	D>E		No	ClinGen ExAC gnomAD
rs199827206 CA8871412	1399	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1221276340 CA401692615	1399	D>G		No	ClinGen TOPMed
CA401692637 rs1463980636	1401	I>V		No	ClinGen TOPMed gnomAD
rs778325950 CA8871413	1402	I>N		No	ClinGen ExAC TOPMed gnomAD
rs778325950 CA401692655	1402	I>T		No	ClinGen ExAC TOPMed gnomAD
CA401692730 rs1598403993	1404	N>T		No	ClinGen Ensembl
CA401692736 rs1249038779	1405	I>V		No	ClinGen gnomAD
CA401692748 rs1174250784	1406	N>K		No	ClinGen TOPMed gnomAD
rs537687514 CA295479724	1407	P>A		No	ClinGen Ensembl
CA8871414 rs748053946	1408	A>T		No	ClinGen ExAC gnomAD
rs773163969 CA8871416	1409	R>C		No	ClinGen ExAC gnomAD
CA401692763 rs746741499	1409	R>L		No	ClinGen ExAC TOPMed gnomAD
CA401692778 rs770646120	1412	M>L		No	ClinGen ExAC gnomAD
CA8871418 rs770646120	1412	M>V		No	ClinGen ExAC gnomAD
CA401692801 rs1272072307	1414	M>I		No	ClinGen gnomAD
rs1200797258 CA401692794	1414	M>V		No	ClinGen gnomAD
rs1370024158 CA401692818	1416	K>N		No	ClinGen gnomAD
rs1346067242 CA401692822	1417	L>P		No	ClinGen TOPMed
rs775765524 CA8871422	1420	S>G		No	ClinGen ExAC gnomAD
CA8871424 rs764624418	1424	P>T		No	ClinGen ExAC gnomAD
CA401692904 rs1433960517	1425	P>S		No	ClinGen TOPMed
CA295479746 rs1048226124	1427	N>D		No	ClinGen TOPMed gnomAD
CA8871441 rs763064626	1428	A>E		No	ClinGen ExAC gnomAD
rs1177666227 CA401693024	1428	A>T		No	ClinGen TOPMed
CA401693053 rs1383272673	1430	T>A		No	ClinGen Ensembl
CA401693056 rs1195477536	1430	T>I		No	ClinGen gnomAD
rs764323722 RCV000594430 CA8871442	1432	S>G		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs1426566148 CA401693081	1432	S>T		No	ClinGen TOPMed
rs151002873 CA8871443 COSM563653	1434	N>S	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
TCGA novel	1435	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1598405242 CA401693145	1436	I>M		No	ClinGen Ensembl
rs1011114157 CA295479990	1438	D>E		No	ClinGen TOPMed gnomAD
CA401693183 rs1166567345	1439	N>H		No	ClinGen gnomAD
rs767898877 CA8871445	1439	N>S		No	ClinGen ExAC gnomAD
CA8871448 rs750703400	1441	K>E		No	ClinGen ExAC gnomAD
CA8871449 rs756531175	1443	D>G		No	ClinGen ExAC gnomAD
rs764803394 CA8871450	1445	C>Y		No	ClinGen ExAC
CA401693278 rs1409900210	1446	F>V		No	ClinGen gnomAD
rs1292200069 CA401693298	1447	Y>C		No	ClinGen gnomAD
rs780406134 CA8871459	1452	V>I		No	ClinGen ExAC gnomAD
rs749585170 CA8871460	1453	I>M		No	ClinGen ExAC
CA401694327 rs1166557758	1454	P>S		No	ClinGen gnomAD
rs768823496 CA8871461	1455	N>H		No	ClinGen ExAC TOPMed gnomAD
CA401694343 rs1490030456	1455	N>S		No	ClinGen gnomAD
rs1430017830 CA401694350	1456	K>Q		No	ClinGen gnomAD
TCGA novel	1458	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401694397 rs1305091124	1459	T>I		No	ClinGen gnomAD
CA8871463 rs761972837	1459	T>S		No	ClinGen ExAC gnomAD
CA8871465 rs773773285	1461	C>R		No	ClinGen ExAC gnomAD
rs752316579 CA295481781	1462	I>V		No	ClinGen Ensembl
CA295481782 rs150614450	1470	K>E		No	ClinGen 1000Genomes
rs766789106 CA8871468	1471	T>K		No	ClinGen ExAC gnomAD
rs766789106 CA8871467	1471	T>R		No	ClinGen ExAC gnomAD
rs1288065433 CA401694677	1473	I>V		No	ClinGen TOPMed
CA401694702 rs1277944007	1474	L>I		No	ClinGen gnomAD
CA8871471 rs750987658	1475	N>K		No	ClinGen ExAC TOPMed gnomAD
rs763575064 CA8871470	1475	N>S		No	ClinGen ExAC gnomAD
COSM1471127 rs1453830480 CA401694752	1476	S>R	prostate [Cosmic]	No	ClinGen cosmic curated gnomAD
CA401694750 rs1237982052	1476	S>T		No	ClinGen TOPMed gnomAD
TCGA novel	1478	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1479	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401694952 rs1157558094	1479	V>I		No	ClinGen gnomAD
rs1391519255 CA401694987	1480	I>M		No	ClinGen gnomAD
rs1175509751 CA401695015	1482	E>A		No	ClinGen TOPMed
rs371345729 CA8871492	1482	E>K		No	ClinGen ESP ExAC gnomAD
TCGA novel	1483	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401695062 rs1323380695	1485	P>R		No	ClinGen gnomAD
CA401695085 rs1329504858	1487	Q>K		No	ClinGen gnomAD
TCGA novel	1488	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401695125 rs1275474710	1489	V>A		No	ClinGen gnomAD
CA8871495 rs751233003	1490	K>N		No	ClinGen ExAC TOPMed gnomAD
CA401695159 rs1349977684	1490	K>R		No	ClinGen gnomAD
CA401695179 rs1290109292	1491	L>F		No	ClinGen gnomAD
rs201217574 COSM1523328 CA295481932	1492	V>A	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes NCI-TCGA
rs1208952966 CA401695223	1494	K>Q		No	ClinGen gnomAD
CA401695258 rs1287471758	1496	K>Q		No	ClinGen gnomAD
CA401695279 rs1481428054	1497	P>S		No	ClinGen TOPMed
CA8871496 rs767117563	1498	P>A		No	ClinGen ExAC gnomAD
CA10604745 RCV000260646 rs767117563	1498	P>S		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs913259326 CA295481933	1500	P>L		No	ClinGen TOPMed
CA295481934 rs367970079	1501	A>V		No	ClinGen ESP
rs1203180918 CA401695344	1503	S>*		No	ClinGen TOPMed
rs1435630796 CA401695380	1506	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs756166672 CA401695386	1506	R>L		No	ClinGen ExAC TOPMed gnomAD
rs528136845 CA8871499	1507	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA401695437 rs1414820517	1510	S>C		No	ClinGen gnomAD
rs978051884 CA295481936	1515	R>G		No	ClinGen TOPMed
CA8871502 rs372451234	1515	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1389065035 CA401695571	1516	D>V		No	ClinGen gnomAD
rs758405083 CA8871505	1518	H>P		No	ClinGen ExAC
rs758405083 CA8871506	1518	H>R		No	ClinGen ExAC
CA8871508 rs376982809	1522	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1432652957 CA401696530	1524	D>G		No	ClinGen TOPMed
rs200062413 CA295482082	1526	D>G		No	ClinGen TOPMed gnomAD
rs1198273154 CA401696561	1526	D>Y		No	ClinGen gnomAD
rs1254684818 CA401696627	1528	H>L		No	ClinGen TOPMed gnomAD
rs1254684818 CA401696624	1528	H>R		No	ClinGen TOPMed gnomAD
rs868659855 CA295482083	1529	T>I		No	ClinGen TOPMed
CA401696654 rs868659855	1529	T>N		No	ClinGen TOPMed
TCGA novel	1530	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781623828 CA401696676	1531	I>N		No	ClinGen ExAC gnomAD
CA8871529 rs781623828	1531	I>T		No	ClinGen ExAC gnomAD
rs775968956 CA8871532	1536	T>N		No	ClinGen ExAC gnomAD
rs1465603127 CA401696788	1537	I>T		No	ClinGen gnomAD
CA295482085 rs977974453	1538	I>L		No	ClinGen Ensembl
CA8871534 rs372853279	1539	A>S		No	ClinGen ESP ExAC gnomAD
rs772742551 CA8871535	1541	I>M		No	ClinGen ExAC gnomAD
TCGA novel	1542	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8871536 rs760204844	1543	G>S		No	ClinGen ExAC gnomAD
rs886044429 RCV000392543 CA10606743	1545	N>D		No	ClinGen ClinVar Ensembl dbSNP
rs776704924 CA8871538	1545	N>S		No	ClinGen ExAC gnomAD
rs759587326 CA8871539	1546	E>G		No	ClinGen ExAC gnomAD
CA8871540 rs764920870	1549	T>I		No	ClinGen ExAC gnomAD
rs764920870 CA401697043	1549	T>S		No	ClinGen ExAC gnomAD
CA8871542 rs762690098	1550	D>G		No	ClinGen ExAC gnomAD
rs752489947 CA401697051	1550	D>H		No	ClinGen ExAC TOPMed gnomAD
rs752489947 CA8871541	1550	D>N		No	ClinGen ExAC TOPMed gnomAD
CA8871543 rs764313867	1551	T>I		No	ClinGen ExAC gnomAD
TCGA novel	1552	P>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1328817269 CA401697120	1553	L>F		No	ClinGen TOPMed
rs957850303 CA295482086	1555	I>T		No	ClinGen gnomAD
CA401697164 rs1347701624	1555	I>V		No	ClinGen gnomAD
CA401697219 rs1204884465	1557	K>E		No	ClinGen gnomAD
CA401697326 rs1308469029	1561	L>F		No	ClinGen TOPMed
CA8871544 rs751799047	1565	F>I		No	ClinGen ExAC gnomAD
CA295482087 rs751799047	1565	F>L		No	ClinGen ExAC gnomAD
rs756589979 CA8871548 COSM1388389	1569	S>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs749627182 CA8871550	1570	A>T		No	ClinGen ExAC gnomAD
CA8871551 rs768925386	1570	A>V		No	ClinGen ExAC TOPMed gnomAD
CA401697638 rs1428214885	1573	M>L		No	ClinGen TOPMed
CA401697653 rs1289293152	1573	M>R		No	ClinGen gnomAD
RCV000595709 rs1555651730	1579	E>missing		No	ClinVar dbSNP
CA10606815 rs886044485 RCV000262528	1580	S>G		No	ClinGen ClinVar Ensembl dbSNP
CA401680994 rs1296612398	1582	P>S		No	ClinGen TOPMed
rs1458500893 CA401681030	1585	D>N		No	ClinGen TOPMed gnomAD
CA401681032 rs1458500893	1585	D>Y		No	ClinGen TOPMed gnomAD
rs750438032 CA8871564	1586	S>G		No	ClinGen ExAC gnomAD
rs1226008579 CA401681051	1586	S>N		No	ClinGen gnomAD
rs756181829 CA8871565	1587	T>A		No	ClinGen ExAC TOPMed gnomAD
CA401681068 rs1276706871	1587	T>S		No	ClinGen TOPMed
rs1441467966 CA401681073	1588	E>K		No	ClinGen TOPMed
CA401681118 rs1157882823	1591	I>L		No	ClinGen gnomAD
rs1490592398 CA401681127	1591	I>T		No	ClinGen gnomAD
rs922786308 CA295486179	1594	E>K		No	ClinGen TOPMed
CA401681743 rs369179110	1595	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA8871570 rs746646525 RCV000376901	1596	R>W		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
TCGA novel	1598	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1421827808 CA401681773	1598	P>T		No	ClinGen gnomAD
rs745341420 CA8871573	1599	L>R		No	ClinGen ExAC gnomAD
RCV000270569 rs867598503	1600	L>missing		No	ClinVar dbSNP
CA401681805 rs1455075334	1600	L>S		No	ClinGen TOPMed
CA401681830 rs1371894096	1604	L>V		No	ClinGen gnomAD
CA401681837 rs1299215590	1605	E>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8871576 rs762833763	1606	P>T		No	ClinGen ExAC gnomAD
rs1394642637 CA401681853	1607	Y>C		No	ClinGen gnomAD
rs376326738 CA8871577	1608	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1609	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1227966000 CA401681873	1610	P>L		No	ClinGen gnomAD
rs370675357 CA8871580	1612	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA8871581 rs753746629	1615	N>D		No	ClinGen ExAC gnomAD
rs1422468069 CA401681948	1616	D>V		No	ClinGen gnomAD
TCGA novel	1616	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774306466 CA401681961	1617	V>F		No	ClinGen ExAC gnomAD
rs774306466 CA8871598	1617	V>I		No	ClinGen ExAC gnomAD
rs773454054 CA8871601	1622	Q>K		No	ClinGen ExAC gnomAD
rs760873020 CA8871602	1624	A>T		No	ClinGen ExAC gnomAD
RCV000348909 rs886044257	1627	T>missing		No	ClinVar dbSNP
TCGA novel	1629	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1313066928 CA401682127	1629	E>Q		No	ClinGen TOPMed
rs1274291358 CA401682154	1630	K>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA401682149 rs1431779827	1630	K>R		No	ClinGen gnomAD
CA10606730 RCV000360711 rs886044419	1633	L>*		No	ClinGen ClinVar Ensembl dbSNP
rs1225482238 CA401682194	1633	L>V		No	ClinGen gnomAD
TCGA novel	1635	Q>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401682237 rs1328478195	1636	S>C		No	ClinGen gnomAD
TCGA novel	1636	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs376874377 CA8871603	1637	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1447165011 CA401682273	1639	M>T		No	ClinGen TOPMed gnomAD
RCV000594375 rs1555651856 CA401682265	1639	M>V		No	ClinGen ClinVar Ensembl dbSNP
CA8871605 rs759665167	1641	K>E		No	ClinGen ExAC gnomAD
rs765796991 CA8871606	1642	S>C		No	ClinGen ExAC TOPMed gnomAD
CA401682336 rs1490694439	1643	L>S		No	ClinGen gnomAD
CA295486286 rs538484850	1646	A>V		No	ClinGen 1000Genomes
TCGA novel	1647	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401682368 rs375361463	1647	S>R		No	ClinGen gnomAD
CA8871608 rs758810493	1648	Q>R		No	ClinGen ExAC gnomAD
CA401682381 rs1458741625	1649	Q>R		No	ClinGen gnomAD
CA401682392 rs1157336673	1651	L>F		No	ClinGen TOPMed gnomAD
CA8871610 rs750081239	1652	N>D		No	ClinGen ExAC gnomAD
CA8871611 rs755669717	1652	N>I		No	ClinGen ExAC gnomAD
CA8871612 rs202031400	1652	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1197096951 CA401682580	1656	C>F		No	ClinGen TOPMed gnomAD
rs748710562 CA8871613	1656	C>R		No	ClinGen ExAC gnomAD
rs1197096951 CA401682576	1656	C>Y		No	ClinGen TOPMed gnomAD
rs1568356183 CA401682679	1665	E>Q		No	ClinGen Ensembl
rs1438902037 CA401682685	1666	A>T		No	ClinGen gnomAD
rs746740103 CA8871637	1668	L>V		No	ClinGen ExAC TOPMed gnomAD
CA401682705 rs1241705515	1669	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs368367743 CA8871639 RCV000726488	1669	R>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1423153464 CA401682732	1673	K>T		No	ClinGen TOPMed
rs886044129 RCV000372847	1674	I>missing		No	ClinVar dbSNP
CA401682737 rs1253935088	1674	I>V		No	ClinGen TOPMed
CA401682744 rs1568356372	1675	H>D		No	ClinGen Ensembl
rs747684310 CA295486875	1677	I>T		No	ClinGen Ensembl
rs1008936918 CA295486878	1678	D>N		No	ClinGen TOPMed
CA8871641 rs769986044	1680	P>S		No	ClinGen ExAC gnomAD
CA401682784 rs1169731986	1681	T>A		No	ClinGen TOPMed gnomAD
rs1598428769 CA401682792	1682	T>K		No	ClinGen Ensembl
CA401682799 rs1358108111	1683	Q>R		No	ClinGen TOPMed
CA401683276 rs1477764229	1687	H>Q		No	ClinGen gnomAD
CA401683296 rs1174155307	1689	E>*		No	ClinGen gnomAD
TCGA novel	1691	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV000358995 CA10605208 rs886043181	1691	L>R		No	ClinGen ClinVar Ensembl dbSNP
rs1408284396 CA401683352	1694	R>T		No	ClinGen TOPMed gnomAD
CA401683404 rs1348777107	1698	E>A		No	ClinGen TOPMed
CA401683400 rs1436761397	1698	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA8871662 rs780458854	1699	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA401683467 rs1383582911	1702	L>P		No	ClinGen gnomAD
TCGA novel	1705	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1423268474 CA401683518	1705	K>N		No	ClinGen TOPMed
CA8871663 rs541262753	1706	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1326290539 CA401683616	1711	T>A		No	ClinGen gnomAD
rs1417830791 CA401683628	1711	T>I		No	ClinGen TOPMed
CA401683661 rs1224446860	1714	N>D		No	ClinGen gnomAD
CA8871667 rs772311926	1716	T>A		No	ClinGen ExAC gnomAD
CA8871668 rs772311926	1716	T>P		No	ClinGen ExAC gnomAD
CA8871669 rs761031769	1717	K>E		No	ClinGen ExAC gnomAD
rs375081758 CA8871670	1718	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA401683717 rs1262755337	1718	G>S		No	ClinGen gnomAD
rs912052573 CA295487163	1719	S>R		No	ClinGen TOPMed gnomAD
rs762347022 CA401683767	1721	D>A		No	ClinGen ExAC TOPMed gnomAD
rs762347022 CA8871672	1721	D>G		No	ClinGen ExAC TOPMed gnomAD
rs2075998748 RCV001289228	1722	V>I		No	ClinVar dbSNP
RCV000297801 CA10606732 rs763696893	1725	K>N		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA8871691 rs763496791	1726	I>T		No	ClinGen ExAC gnomAD
CA401684246 rs1294268737	1727	A>V		No	ClinGen gnomAD
rs1293720403 CA401684256	1728	H>L		No	ClinGen TOPMed
CA401684291 rs1457135224	1732	I>V		No	ClinGen TOPMed
rs764368684 CA295487871	1734	D>G		No	ClinGen Ensembl
rs761230936 CA8871693	1739	M>V		No	ClinGen ExAC gnomAD
TCGA novel	1741	I>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1249535855 CA401684626	1747	S>N		No	ClinGen gnomAD
CA401684667 rs1255257488	1749	M>T		No	ClinGen gnomAD
rs1185028309 CA401684716	1752	V>I		No	ClinGen gnomAD
rs1385544122 CA401684774	1756	T>A		No	ClinGen gnomAD
rs755944894 CA8871696	1757	T>A		No	ClinGen ExAC gnomAD
CA8871698 rs753994912	1759	A>T		No	ClinGen ExAC TOPMed gnomAD
rs370977174 CA8871699	1761	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA401684867 rs202006154	1762	R>C		No	ClinGen gnomAD
CA295487879 rs202006154	1762	R>G		No	ClinGen gnomAD
CA401684870 rs1427732854	1762	R>H		No	ClinGen TOPMed gnomAD
CA401684874 rs1427732854	1762	R>L		No	ClinGen TOPMed gnomAD
rs202006154 CA401684862	1762	R>S		No	ClinGen gnomAD
CA401684885 rs1269969231	1763	I>T		No	ClinGen TOPMed
CA401684878 rs1405768061	1763	I>V		No	ClinGen gnomAD
rs1167815943 CA401684901 RCV000598378	1764	Y>C		No	ClinGen ClinVar dbSNP gnomAD
rs758494463 CA8871702	1768	Q>H		No	ClinGen ExAC gnomAD
CA8871701 rs564741755	1768	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
CA401685125 rs1213988580	1775	P>T		No	ClinGen gnomAD
CA8871703 rs530550521	1778	S>C		No	ClinGen 1000Genomes ExAC gnomAD
CA401685821 rs1262486084	1782	K>T		No	ClinGen gnomAD
rs373881061 CA401685865	1786	D>H		No	ClinGen ESP gnomAD
CA401685888 rs1448512959	1787	W>*		No	ClinGen gnomAD
CA8871715 rs771751003	1792	P>L		No	ClinGen ExAC gnomAD
CA295488287 rs867694014	1795	R>*		No	ClinGen gnomAD
CA8871716 rs773281523	1795	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8871717 rs760754729	1796	N>T		No	ClinGen ExAC TOPMed gnomAD
CA401686263 rs1243536317	1797	G>E		No	ClinGen gnomAD
rs1190193153 CA401686297	1800	Y>C		No	ClinGen gnomAD
CA295488293 rs867822551	1803	P>T		No	ClinGen Ensembl
CA10606667 rs886044362 RCV000337289	1806	D>N		No	ClinGen ClinVar Ensembl dbSNP
rs1479748403 CA401686363	1806	D>V		No	ClinGen gnomAD
rs868745253 CA295488296	1810	A>S		No	ClinGen Ensembl
rs1393598519 CA401686409	1811	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA295488297 rs759281751	1811	R>L		No	ClinGen ExAC gnomAD
CA8871720 rs759281751	1811	R>Q		No	ClinGen ExAC gnomAD
rs765449164 CA8871721	1812	D>G		No	ClinGen ExAC gnomAD
CA401686526 rs1431491054	1823	C>W		No	ClinGen gnomAD
CA401686538 rs1302645678	1825	T>I		No	ClinGen gnomAD
CA401686572 rs1244754864	1828	G>D		No	ClinGen gnomAD
CA8871735 rs772792070	1829	M>T		No	ClinGen ExAC gnomAD
CA295488335 rs374169704	1838	D>N		No	ClinGen ESP TOPMed
rs1360964402 CA401686667	1839	N>S		No	ClinGen gnomAD
rs1320604268 CA401686690	1841	D>E		No	ClinGen TOPMed
CA401686686 rs1338908557	1841	D>G		No	ClinGen TOPMed
rs1291135032 CA401686693	1842	A>T		No	ClinGen gnomAD
COSM178447 CA401686701 rs1437775906	1842	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
RCV000284561 rs867875905 CA10606666	1843	A>T		No	ClinGen ClinVar Ensembl dbSNP
TCGA novel	1844	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776455179 CA8871739	1849	E>K		No	ClinGen ExAC gnomAD
rs758058632 CA8871754	1850	V>A		No	ClinGen ExAC gnomAD
rs1469039491 CA401688146	1850	V>I		No	ClinGen gnomAD
rs777602350 CA8871755	1852	K>T		No	ClinGen ExAC gnomAD
CA8871756 rs746470716	1855	H>Y		No	ClinGen ExAC gnomAD
CA401688291 rs1568383892 RCV000730969	1856	C>*		No	ClinGen ClinVar Ensembl dbSNP
TCGA novel	1863	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV000330129 CA10606943 rs886044586	1866	R>Q		No	ClinGen ClinVar Ensembl dbSNP
CA401688492 rs1229050345 COSM263788	1868	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
TCGA novel	1869	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1871	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA295489444 rs867040021	1876	L>I		No	ClinGen Ensembl
RCV000594147 CA8871758 rs776598393	1883	M>V		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
COSM178450 rs1462790313 CA401688829	1887	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs904763448 CA295489449	1889	M>V		No	ClinGen TOPMed
CA8871759 rs745859698	1893	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs368440720 CA295489452	1894	P>S		No	ClinGen ESP TOPMed gnomAD
rs1445352304 CA401688975	1895	V>L		No	ClinGen gnomAD
CA8871760 rs769617610	1896	P>A		No	ClinGen ExAC gnomAD
rs775085894 CA8871761	1897	K>E		No	ClinGen ExAC gnomAD
rs531557946 CA8871763	1901	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA401689075 rs1367811184	1904	E>*		No	ClinGen gnomAD
rs1466401928 CA401689094	1906	I>T		No	ClinGen gnomAD
TCGA novel	1907	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761853422 CA401689098	1907	D>H		No	ClinGen ExAC TOPMed gnomAD
rs761853422 CA8871765	1907	D>N		No	ClinGen ExAC TOPMed gnomAD
CA401690410 rs1458894102	1908	L>V		No	ClinGen gnomAD
TCGA novel	1909	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8871783 rs371207770	1910	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1449537289 CA628047275	1912	Y>*		No	ClinGen gnomAD
CA295491541 rs764493125	1913	R>C		No	ClinGen TOPMed gnomAD
CA8871784 rs773099791	1913	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA295491543 rs937696891	1914	S>Y		No	ClinGen TOPMed
CA401690520 rs1568408187 RCV000734974	1915	A>S		No	ClinGen ClinVar Ensembl dbSNP
CA295491545 rs974970512	1918	K>T		No	ClinGen gnomAD
CA8871785 rs760839430	1920	D>E		No	ClinGen ExAC gnomAD
CA401690611 rs1226557930	1920	D>G		No	ClinGen gnomAD
CA401690607 rs1322208200	1920	D>H		No	ClinGen gnomAD
CA8871786 rs766748917	1921	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8871787 rs754447017	1923	N>I		No	ClinGen ExAC TOPMed gnomAD
rs754447017 CA401690683	1923	N>T		No	ClinGen ExAC TOPMed gnomAD
CA401690712 rs1242085146	1925	D>N		No	ClinGen TOPMed gnomAD
rs759947358 CA8871788	1925	D>V		No	ClinGen ExAC gnomAD
rs751244017 CA8871790	1926	L>P		No	ClinGen ExAC gnomAD
rs756800933 CA8871791	1927	N>H		No	ClinGen ExAC gnomAD
RCV000516887 rs1555658855	1928	S>missing		No	ClinVar dbSNP
CA8871794 rs755669572	1934	R>C		No	ClinGen ExAC TOPMed gnomAD
rs779941077 CA8871795	1934	R>H		No	ClinGen ExAC TOPMed gnomAD
rs779941077 CA401690906	1934	R>L		No	ClinGen ExAC TOPMed gnomAD
CA401690895 rs755669572	1934	R>S		No	ClinGen ExAC TOPMed gnomAD
RCV000297312 CA10606086 rs886043895	1935	T>S		No	ClinGen ClinVar Ensembl dbSNP
CA401690936 rs1379955354	1936	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA401690942 rs1293274856	1937	D>N		No	ClinGen TOPMed gnomAD
CA401690946 rs1293274856	1937	D>Y		No	ClinGen TOPMed gnomAD
CA401691068 rs1218967006	1943	Q>R		No	ClinGen gnomAD
rs1262315524 CA401691113	1945	L>F		No	ClinGen gnomAD
rs1245325884 CA401691169	1948	H>R		No	ClinGen TOPMed
CA8871798 rs778626038	1951	N>K		No	ClinGen ExAC gnomAD
rs1459141256 CA401691259	1954	L>V		No	ClinGen Ensembl
CA401691440 rs1568409239	1961	M>V		No	ClinGen Ensembl
rs1220805438 CA401691479	1964	I>K		No	ClinGen gnomAD
rs750136221 CA8871812	1965	R>C		No	ClinGen ExAC gnomAD
rs755578313 CA8871813	1965	R>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1966	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1488354554 CA401691502	1966	K>Q		No	ClinGen gnomAD
CA401691522 rs1389062237	1967	C>R		No	ClinGen TOPMed
CA401691527 rs1300209215	1967	C>Y		No	ClinGen TOPMed
RCV000376377 rs553815732 CA8871815	1969	D>E		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA8871820 rs777828468	1973	H>P		No	ClinGen ExAC gnomAD
CA401691607 rs777828468	1973	H>R		No	ClinGen ExAC gnomAD
rs1168784839 CA401691604	1973	H>Y		No	ClinGen TOPMed
CA10604799 RCV000261238 rs886042874	1975	P>S		No	ClinGen ClinVar Ensembl dbSNP
CA401691664 rs1430043041	1977	V>A		No	ClinGen TOPMed
CA8871822 rs747322089	1979	T>K		No	ClinGen ExAC TOPMed gnomAD
COSM178456 CA8871821 rs747322089	1979	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1420450347 CA401691693	1981	D>Y		No	ClinGen gnomAD
rs1302468965 CA401691702	1982	C>Y		No	ClinGen gnomAD
rs1363642198 CA401691723	1984	V>F		No	ClinGen gnomAD
rs1438271687 CA401691753	1986	P>R		No	ClinGen gnomAD
CA8871824 rs759693283	1989	M>I		No	ClinGen ExAC gnomAD
rs757510495 CA295491616	1991	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA401691822 rs1221685804	1991	R>Q		No	ClinGen gnomAD
CA401691857 rs1416328448	1994	T>A		No	ClinGen gnomAD
CA401691868 rs1353781706	1994	T>I		No	ClinGen gnomAD
rs776083239 CA8871826	1995	R>G		No	ClinGen ExAC gnomAD
rs763202284 CA8871827	1998	R>K		No	ClinGen ExAC gnomAD
CA401692669 rs1366758478	1999	I>F		No	ClinGen gnomAD
rs1366758478 CA401692668	1999	I>V		No	ClinGen gnomAD
rs745891281 CA8871845	2000	I>V		No	ClinGen ExAC gnomAD
rs1163758171 CA401692687	2002	K>E		No	ClinGen gnomAD
rs775826487 CA8871847	2003	T>A		No	ClinGen ExAC gnomAD
rs374747323 CA295492557	2004	D>G		No	ClinGen ESP TOPMed gnomAD
CA401692699 rs1172586631	2004	D>H		No	ClinGen gnomAD
CA401692710 rs1334340984	2005	V>G		No	ClinGen gnomAD
CA401692707 rs1451422586	2005	V>I		No	ClinGen gnomAD
CA295492558 rs866093593	2006	V>L		No	ClinGen Ensembl

2 associated diseases with A6NHR9

[MIM: 158901]: Facioscapulohumeral muscular dystrophy 2, digenic (FSHD2)

A degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation. This tends to be followed by facial weakness, primarily involving the orbicularis oris and orbicularis oculi muscles. {ECO:0000269|PubMed:23143600, ECO:0000269|PubMed:24075187, ECO:0000269|PubMed:24128691, ECO:0000269|PubMed:25256356, ECO:0000269|PubMed:25370034, ECO:0000269|PubMed:27059856, ECO:0000269|PubMed:28067911, ECO:0000269|PubMed:29748383}. Note=The disease is caused by variants affecting the gene represented in this entry. SMCHD1 mutations lead to DUX4 expression in somatic tissues, including muscle cells, when an haplotype on chromosome 4 is permissive for DUX4 expression (PubMed:23143600). Ectopic expression of DUX4 in skeletal muscle activates the expression of stem cell and germline genes, and, when overexpressed in somatic cells, DUX4 can ultimately lead to cell death (PubMed:23143600). FSHD2 and FSHD1 share a common pathophysiological pathway in which the FSHD2 gene SMCHD1 can act as a modifier for disease severity in families affected by FSHD1 (PubMed:24075187, PubMed:25370034). {ECO:0000269|PubMed:23143600, ECO:0000269|PubMed:24075187, ECO:0000269|PubMed:25370034}.

[MIM: 603457]: Bosma arhinia microphthalmia syndrome (BAMS)

An autosomal dominant syndrome characterized by severe hypoplasia of the nose, palatal abnormalities, hypoplasia of the eyes, sensory abnormalities of taste and smell, hypogonadotropic hypogonadism with cryptorchidism, and normal intelligence. {ECO:0000269|PubMed:28067909, ECO:0000269|PubMed:28067911, ECO:0000269|PubMed:29748383}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation. This tends to be followed by facial weakness, primarily involving the orbicularis oris and orbicularis oculi muscles. {ECO:0000269|PubMed:23143600, ECO:0000269|PubMed:24075187, ECO:0000269|PubMed:24128691, ECO:0000269|PubMed:25256356, ECO:0000269|PubMed:25370034, ECO:0000269|PubMed:27059856, ECO:0000269|PubMed:28067911, ECO:0000269|PubMed:29748383}. Note=The disease is caused by variants affecting the gene represented in this entry. SMCHD1 mutations lead to DUX4 expression in somatic tissues, including muscle cells, when an haplotype on chromosome 4 is permissive for DUX4 expression (PubMed:23143600). Ectopic expression of DUX4 in skeletal muscle activates the expression of stem cell and germline genes, and, when overexpressed in somatic cells, DUX4 can ultimately lead to cell death (PubMed:23143600). FSHD2 and FSHD1 share a common pathophysiological pathway in which the FSHD2 gene SMCHD1 can act as a modifier for disease severity in families affected by FSHD1 (PubMed:24075187, PubMed:25370034). {ECO:0000269|PubMed:23143600, ECO:0000269|PubMed:24075187, ECO:0000269|PubMed:25370034}.
An autosomal dominant syndrome characterized by severe hypoplasia of the nose, palatal abnormalities, hypoplasia of the eyes, sensory abnormalities of taste and smell, hypogonadotropic hypogonadism with cryptorchidism, and normal intelligence. {ECO:0000269|PubMed:28067909, ECO:0000269|PubMed:28067911, ECO:0000269|PubMed:29748383}. Note=The disease is caused by variants affecting the gene represented in this entry.

1 regional properties for A6NHR9

Type	Name	Position	InterPro Accession
domain	SMCs flexible hinge	1720 - 1847	IPR010935

Functions

		Description
EC Number
Subcellular Localization	Chromosome	Recruited to inactivated chromosome X in females by Xist RNA (By similarity) Localizes at sites of DNA damage at double-strand breaks (DSBs) (PubMed:24790221, PubMed:25294876)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

2 GO annotations of cellular component

Name	Definition
Barr body	A structure found in a female mammalian cell containing an unpaired X chromosome that has become densely heterochromatic, silenced and localized at the nuclear periphery.
site of double-strand break	A region of a chromosome at which a DNA double-strand break has occurred. DNA damage signaling and repair proteins accumulate at the lesion to respond to the damage and repair the DNA to form a continuous DNA helix.

4 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: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient.
DNA binding	Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
protein homodimerization activity	Binding to an identical protein to form a homodimer.

7 GO annotations of biological process

Name	Definition
dosage compensation by inactivation of X chromosome	Compensating for the two-fold variation in X-chromosome:autosome ratios between sexes by a global inactivation of all, or most of, the genes on one of the X-chromosomes in the XX sex.
double-strand break repair	The repair of double-strand breaks in DNA via homologous and nonhomologous mechanisms to reform a continuous DNA helix.
inactivation of X chromosome by heterochromatin assembly	Compensating for the two-fold variation in X-chromosome: autosome ratios between sexes by a global inactivation of all, or most of, the genes on one of the X-chromosomes in the XX sex by the mechanism of heterochromatin formation.
negative regulation of double-strand break repair via homologous recombination	Any process that stops, prevents, or reduces the frequency, rate or extent of double-strand break repair via homologous recombination.
nose development	The process whose specific outcome is the progression of the nose over time, from its formation to the mature structure. The nose is the specialized structure of the face that serves as the organ of the sense of smell and as part of the respiratory system. Includes the nasi externus (external nose) and cavitas nasi (nasal cavity).
positive regulation of DNA repair	Any process that activates or increases the frequency, rate or extent of DNA repair.
positive regulation of double-strand break repair via nonhomologous end joining	Any process that activates or increases the frequency, rate or extent of double-strand break repair via nonhomologous end joining.

No homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
No homologous proteins

10	20	30	40	50	60
MAAADGGGPG	GASVGTEEDG	GGVGHRTVYL	FDRREKESEL	GDRPLQVGER	SDYAGFRACV
70	80	90	100	110	120
CQTLGISPEE	KFVITTTSRK	EITCDNFDET	VKDGVTLYLL	QSVNQLLLTA	TKERIDFLPH
130	140	150	160	170	180
YDTLVKSGMY	EYYASEGQNP	LPFALAELID	NSLSATSRNI	GVRRIQIKLL	FDETQGKPAV
190	200	210	220	230	240
AVIDNGRGMT	SKQLNNWAVY	RLSKFTRQGD	FESDHSGYVR	PVPVPRSLNS	DISYFGVGGK
250	260	270	280	290	300
QAVFFVGQSA	RMISKPADSQ	DVHELVLSKE	DFEKKEKNKE	AIYSGYIRNR	KPSDSVHITN
310	320	330	340	350	360
DDERFLHHLI	IEEKEKDSFT	AVVITGVQPE	HIQYLKNYFH	LWTRQLAHIY	HYYIHGPKGN
370	380	390	400	410	420
EIRTSKEVEP	FNNIDIEISM	FEKGKVPKIV	NLREIQDDMQ	TLYVNTAADS	FEFKAHVEGD
430	440	450	460	470	480
GVVEGIIRYH	PFLYDRETYP	DDPCFPSKLK	DEDDEDDCFI	LEKAARGKRP	IFECFWNGRL
490	500	510	520	530	540
IPYTSVEDFD	WCTPPKKRGL	APIECYNRIS	GALFTNDKFQ	VSTNKLTFMD	LELKLKDKNT
550	560	570	580	590	600
LFTRILNGQE	QRMKIDREFA	LWLKDCHEKY	DKQIKFTLFK	GVITRPDLPS	KKQGPWATYA
610	620	630	640	650	660
AIEWDGKIYK	AGQLVKTIKT	LPLFYGSIVR	FFLYGDHDGE	VYATGGEVQI	AMEPQALYDE
670	680	690	700	710	720
VRTVPIAKLD	RTVAEKAVKK	YVEDEMARLP	DRLSVTWPEG	DELLPNEVRP	AGTPIGALRI
730	740	750	760	770	780
EILNKKGEAM	QKLPGTSHGG	SKKLLVELKV	ILHSSSGNKE	IISHISQHGG	KWPYWFKKME
790	800	810	820	830	840
NIQKLGNYTL	KLQVVLNESN	ADTYAGRPLP	SKAIKFSVKE	GKPEKFSFGL	LDLPFRVGVP
850	860	870	880	890	900
FNIPLEFQDE	FGHTSQLVTD	IQPVLEASGL	SLHYEEITKG	PNCVIRGVTA	KGPVNSCQGK
910	920	930	940	950	960
NYNLKVTLPG	LKEDSQILKI	RLLPGHPRRL	KVKPDSEILV	IENGTAFPFQ	VEVLDESDNI
970	980	990	1000	1010	1020
TAQPKLIVHC	KFSGAPNLPV	YVVDCSSSGT	SILTGSAIQV	QNIKKDQTLK	ARIEIPSCKD
1030	1040	1050	1060	1070	1080
VAPVEKTIKL	LPSSHVARLQ	IFSVEGQKAI	QIKHQDEVNW	IAGDIMHNLI	FQMYDEGERE
1090	1100	1110	1120	1130	1140
INITSALAEK	IKVNWTPEIN	KEHLLQGLLP	DVQVPTSVKD	MRYCQVSFQD	DHVSLESAFT
1150	1160	1170	1180	1190	1200
VRPLPDEPKH	LKCEMKGGKT	VQMGQELQGE	VVIIITDQYG	NQIQAFSPSS	LSSLSIAGVG
1210	1220	1230	1240	1250	1260
LDSSNLKTTF	QENTQSISVR	GIKFIPGPPG	NKDLCFTWRE	FSDFIRVQLI	SGPPAKLLLI
1270	1280	1290	1300	1310	1320
DWPELKESIP	VINGRDLQNP	IIVQLCDQWD	NPAPVQHVKI	SLTKASNLKL	MPSNQQHKTD
1330	1340	1350	1360	1370	1380
EKGRANLGVF	SVFAPRGEHT	LQVKAIYNKS	IIEGPIIKLM	ILPDPEKPVR	LNVKYDKDAS
1390	1400	1410	1420	1430	1440
FLAGGLFTDF	MISVISEDDS	IIKNINPARI	SMKMWKLSTS	GNRPPANAET	FSCNKIKDND
1450	1460	1470	1480	1490	1500
KEDGCFYFRD	KVIPNKVGTY	CIQFGFMMDK	TNILNSEQVI	VEVLPNQPVK	LVPKIKPPTP
1510	1520	1530	1540	1550	1560
AVSNVRSVAS	RTLVRDLHLS	ITDDYDNHTG	IDLVGTIIAT	IKGSNEEDTD	TPLFIGKVRT
1570	1580	1590	1600	1610	1620
LEFPFVNGSA	EIMSLVLAES	SPGRDSTEYF	IVFEPRLPLL	SRTLEPYILP	FMFYNDVKKQ
1630	1640	1650	1660	1670	1680
QQMAALTKEK	DQLSQSIVMY	KSLFEASQQL	LNEMKCQVEE	ARLKEAQLRN	ELKIHNIDIP
1690	1700	1710	1720	1730	1740
TTQQVPHIEA	LLKRKLSEQE	ELKKKPRRSC	TLPNYTKGSG	DVLGKIAHLA	QIEDDRAAMV
1750	1760	1770	1780	1790	1800
ISWHLASDMD	CVVTLTTDAA	RRIYDETQGR	QQVLPLDSIY	KKTLPDWKRS	LPHFRNGKLY
1810	1820	1830	1840	1850	1860
FKPIGDPVFA	RDLLTFPDNV	EHCETVFGML	LGDTIILDNL	DAANHYRKEV	VKITHCPTLL
1870	1880	1890	1900	1910	1920
TRDGDRIRSN	GKFGGLQNKA	PPMDKLRGMV	FGAPVPKQCL	ILGEQIDLLQ	QYRSAVCKLD
1930	1940	1950	1960	1970	1980
SVNKDLNSQL	EYLRTPDMRK	KKQELDEHEK	NLKLIEEKLG	MTPIRKCNDS	LRHSPKVETT
1990	2000
DCPVPPKRMR	REATRQNRII	TKTDV