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VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
MUTATION TYPE:	CHR: POS:

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SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED SHOW ONLY VARIANTS AT EXACTLY SAME POSITION BETWEEN ALL THE INDIVIDUALS SELECTED EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD SHOW ONLY VARIANTS PRESENT AT HGMD

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1000 GENOMES FREQUENCY	EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES	DBSNP FREQUENCY	EXCLUDE ALL VARIANTS PRESENT IN DBSNP	ESP6500 FREQUENCY	EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

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+ Genes 19

Genes:
AARS, CCDC78, CIITA, CTD-3088G3.8, DNAAF1, E2F4, FA2H, FUS, GAN, GSPT1, IRX3, JPH3, LITAF, MYH11, PRRT2, THAP11, TUBB8P7, VPS35, ZFHX3,

+ Genes associated with diseases 13

Genes at Omim

AARS, CCDC78, CIITA, DNAAF1, FA2H, FUS, GAN, JPH3, LITAF, MYH11, PRRT2, VPS35, ZFHX3,

AARS	Charcot-Marie-Tooth disease, axonal, type 2N, 613287 (3) Epileptic encephalopathy, early infantile, 29, 616339 (3)
CCDC78	?Centronuclear myopathy 4, 614807 (3)
CIITA	Bare lymphocyte syndrome, type II, complementation group A, 209920 (3) {Rheumatoid arthritis, susceptibility to}, 180300 (3)
DNAAF1	Ciliary dyskinesia, primary, 13, 613193 (3)
FA2H	Spastic paraplegia 35, autosomal recessive, 612319 (3)
FUS	Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia, 608030 (3) Essential tremor, hereditary, 4, 614782 (3)
GAN	Giant axonal neuropathy-1, 256850 (3)
JPH3	Huntington disease-like 2, 606438 (3)
LITAF	Charcot-Marie-Tooth disease, type 1C, 601098 (3)
MYH11	Aortic aneurysm, familial thoracic 4, 132900 (3)
PRRT2	Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066 (3) Episodic kinesigenic dyskinesia 1, 128200 (3) Seizures, benign familial infantile, 2, 605751 (3)
VPS35	{Parkinson disease 17}, 614203 (3)
ZFHX3	Prostate cancer, somatic, 176807 (3)

Genes at Clinical Genomics Database

AARS, CIITA, DNAAF1, FA2H, FUS, GAN, JPH3, LITAF, MYH11, PRRT2, VPS35,

AARS	Charcot-Marie-Tooth disease, axonal, type 2N Epileptic encephalopathy, early infantile, 29
CIITA	Bare lymphocyte syndrome, type II
DNAAF1	Ciliary dyskinesia, primary, 13
FA2H	Spastic paraplegia 35, autosomal recessive
FUS	Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia Essential tremor
GAN	Giant axonal neuropathy 1, autosomal recessive
JPH3	Huntington disease-like 2
LITAF	Charcot-Marie-Tooth disease, type 1C
MYH11	Aortic aneurysm, familial thoracic 4
PRRT2	Episodic kinesigenic dyskinesia 1
VPS35	Parkinson disease 17

Genes at HGMD

Summary

Number of Variants: 978
Number of Genes: 19

Export to: CSV

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AARS
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	9040 cleaned_snpindel	16	rs2070203 dbSNP Clinvar	70303580	7878.77	G	A	VariantFilter	0/1	0	SYNONYMOUS_CODING	LOW	None	0.42532	0.42530	0.49077				None None	None None None None	AARS\|0.341353977\|24.74%
	View	9040 cleaned_snpindel	16	rs4081753 dbSNP Clinvar	70287177	7112.77	A	G	VariantFilter	0/1	0	SYNONYMOUS_CODING	LOW	None	0.88119	0.88120	0.15082				None None	None None None None	AARS\|0.341353977\|24.74%
CCDC78
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	9040 cleaned_snpindel	16	rs2071950 dbSNP Clinvar	774692	4535.77	A	G	PASS	0/1	0	NON_SYNONYMOUS_CODING	MODERATE	None	0.70088	0.70090	0.46407	1.00	0.00		None None	None None None None	CCDC78\|0.002225569\|90.35%
CIITA
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	9040 cleaned_snpindel	16	rs7197779 dbSNP Clinvar	11002927	83.03	A	G	PASS	1/1	0	NON_SYNONYMOUS_CODING	MODERATE	None	0.92871	0.92870	0.08011	0.33	0.00		None None	None None None None	CIITA\|0.029865034\|69.47%
CTD-3088G3.8
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	9040 cleaned_snpindel	16	rs9935550 dbSNP Clinvar	11508311	63.28	T	C	PASS	1/1	0	NON_SYNONYMOUS_CODING	MODERATE	None	0.71506	0.71510		0.87	0.00		None None	None None None None	None
DNAAF1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	9040 cleaned_snpindel	16	rs11644164 dbSNP Clinvar	84203939	5081.77	C	T	VariantFilter	0/1	0	NON_SYNONYMOUS_CODING	MODERATE	None	0.28055	0.28060	0.29903	0.35	0.00		None None	None None None None	DNAAF1\|0.000486573\|98.51%
	View	9040 cleaned_snpindel	16	rs2288022 dbSNP Clinvar	84209816	10546.77	T	C	VariantFilter	0/1	0	NON_SYNONYMOUS_CODING	MODERATE	None	0.26737	0.26740	0.26900	0.36	0.00		None None	None None None None	DNAAF1\|0.000486573\|98.51%
	View	9040 cleaned_snpindel	16	rs2288021 dbSNP Clinvar	84209815	9269.77	C	G	VariantFilter	0/1	0	NON_SYNONYMOUS_CODING	MODERATE	None	0.13139	0.13140	0.15923	0.16	0.04		None None	None None None None	DNAAF1\|0.000486573\|98.51%
	View	9040 cleaned_snpindel	16	rs2288020 dbSNP Clinvar	84209738	8708.77	T	C	VariantFilter	0/1	0	NON_SYNONYMOUS_CODING	MODERATE	None	0.26737	0.26740	0.27254	0.52	0.03		None None	None None None None	DNAAF1\|0.000486573\|98.51%
	View	9040 cleaned_snpindel	16	rs2288019 dbSNP Clinvar	84209634	9206.77	C	G	VariantFilter	0/1	0	SYNONYMOUS_CODING	LOW	None	0.53175	0.53170	0.48931				None None	None None None None	DNAAF1\|0.000486573\|98.51%
	View	9040 cleaned_snpindel	16	rs17856705 dbSNP Clinvar	84203612	10109.77	A	G	VariantFilter	0/1	0	NON_SYNONYMOUS_CODING	MODERATE	None	0.32109	0.32110	0.37875	0.18	0.00		None None	None None None None	DNAAF1\|0.000486573\|98.51%
	View	9040 cleaned_snpindel	16	rs2288023 dbSNP Clinvar	84209864	9845.77	G	C	VariantFilter	0/1	0	NON_SYNONYMOUS_CODING	MODERATE	None	0.26757	0.26760	0.27331	0.12	0.01		None None	None None None None	DNAAF1\|0.000486573\|98.51%
	View	9040 cleaned_snpindel	16	rs149158199 dbSNP Clinvar	84203737	5081.77	G	A	VariantFilter	0/1	0	NON_SYNONYMOUS_CODING	MODERATE	None	0.01857	0.01857	0.03131	0.22	0.09		None None	None None None None	DNAAF1\|0.000486573\|98.51%
E2F4
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	9040 cleaned_snpindel	16	rs774472392,rs3830472 dbSNP Clinvar	67229793	492.73	ACAG	A	PASS	0/1	0	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None							None None	None None None None	E2F4\|0.500599501\|15.79%
FA2H
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	9040 cleaned_snpindel	16	rs2301865 dbSNP Clinvar	74750405	19185.77	G	A	VariantFilter	1/1	0	SYNONYMOUS_CODING	LOW	None	0.72524	0.72520	0.21884				None None	None None None None	FA2H\|0.063517581\|59.01%
FUS
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	9040 cleaned_snpindel	16	rs741810 dbSNP Clinvar	31193942	9171.77	C	A	VariantFilter	0/1	0	SYNONYMOUS_CODING	LOW	None	0.27895	0.27900	0.21672				None None	None None None None	FUS\|0.947076631\|2.33%
	View	9040 cleaned_snpindel	16	rs1052352 dbSNP Clinvar	31195279	7974.77	C	T	VariantFilter	0/1	0	SYNONYMOUS_CODING	LOW	None	0.47384	0.47380	0.45837				None None	None None None None	FUS\|0.947076631\|2.33%
GAN
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	9040 cleaned_snpindel	16	rs2608555 dbSNP Clinvar	81398635	7779.77	C	T	VariantFilter	0/1	0	SYNONYMOUS_CODING	LOW	None	0.15116	0.15120	0.22978				None None	None None None None	GAN\|0.138066353\|44.7%
GSPT1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	9040 cleaned_snpindel	16	rs774581447 dbSNP Clinvar	12009530	26.74	CCCG	C	LowQual;VariantFilter	0/1	0	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None							None None	None None None None	GSPT1\|0.477722435\|16.86%
	View	9040 cleaned_snpindel	16	rs424518 dbSNP Clinvar	12009279	705.77	A	G	PASS	1/1	0	NON_SYNONYMOUS_CODING	MODERATE	None	0.98502	0.98500	0.01067	0.87	0.00		None None	None None None None	GSPT1\|0.477722435\|16.86%
IRX3
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	9040 cleaned_snpindel	16	rs1450355 dbSNP Clinvar	54318528	11193.77	A	G	PASS	1/1	0	NON_SYNONYMOUS_CODING	MODERATE	None	0.96865	0.96870	0.01756	0.33	0.00		None None	None None None None	IRX3\|0.489031423\|16.35%
	View	9040 cleaned_snpindel	16	rs61744547 dbSNP Clinvar	54317628	2059.77	G	A	PASS	0/1	0	SYNONYMOUS_CODING	LOW	None	0.00639	0.00639	0.01308				None None	None None None None	IRX3\|0.489031423\|16.35%
JPH3
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	9040 cleaned_snpindel	16	rs8051448 dbSNP Clinvar	87678441	1406.77	C	T	PASS	0/1	0	SYNONYMOUS_CODING	LOW	None	0.11242	0.11240	0.13781				None None	None None None None	JPH3\|0.231218042\|33.27%
	View	9040 cleaned_snpindel	16	rs918368 dbSNP Clinvar	87678144	400.77	T	C	PASS	0/1	0	SYNONYMOUS_CODING	LOW	None	0.65176	0.65180	0.42775				None None	None None None None	JPH3\|0.231218042\|33.27%
	View	9040 cleaned_snpindel	16	rs9934222 dbSNP Clinvar	87678249	1043.77	G	A	PASS	0/1	0	SYNONYMOUS_CODING	LOW	None	0.10264	0.10260	0.15954				None None	None None None None	JPH3\|0.231218042\|33.27%
LITAF
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	9040 cleaned_snpindel	16	rs4280262 dbSNP Clinvar	11647492	6676.77	T	C	VariantFilter	0/1	0	NON_SYNONYMOUS_CODING	MODERATE	None	0.10264	0.10260	0.16538	1.00	0.00		None None	None None None None	LITAF\|0.097079199\|51.7%
	View	9040 cleaned_snpindel	16	rs3743582 dbSNP Clinvar	11650325	7298.77	G	A	VariantFilter	0/1	0	None	None	None	0.51018	0.51020	0.43659	0.00	0.08		None None	None None None None	LITAF\|0.097079199\|51.7%
MYH11
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	9040 cleaned_snpindel	16	rs2075511 dbSNP Clinvar	15818141	20647.77	A	C	VariantFilter	1/1	0	SYNONYMOUS_CODING	LOW	None	0.41014	0.41010	0.45898				None None	None None None None	NDE1\|0.20927018\|35.66%,MYH11\|0.723905691\|7.87%
	View	9040 cleaned_snpindel	16	rs1050162 dbSNP Clinvar	15811062	21804.77	C	T	VariantFilter	1/1	0	SYNONYMOUS_CODING	LOW	None	0.39677	0.39680	0.43943				None None	None None None None	NDE1\|0.20927018\|35.66%,MYH11\|0.723905691\|7.87%
	View	9040 cleaned_snpindel	16	rs1050163 dbSNP Clinvar	15811023	21947.77	C	T	VariantFilter	1/1	0	SYNONYMOUS_CODING	LOW	None	0.39617	0.39620	0.43897				None None	None None None None	NDE1\|0.20927018\|35.66%,MYH11\|0.723905691\|7.87%
PRRT2
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	9040 cleaned_snpindel	16	rs11150573 dbSNP Clinvar	29825126	19936.77	T	C	VariantFilter	1/1	0	SYNONYMOUS_CODING	LOW	None	0.99181	0.99180	0.00924				None None	None None None None	PRRT2\|0.028693623\|70.09%
THAP11
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	9040 cleaned_snpindel	16	rs377516180 dbSNP Clinvar	67876823	354.73	ACAG	A	VariantFilter	0/1	0	CODON_DELETION	MODERATE	None							None None	None None None None	CENPT\|0.023116671\|72.61%,THAP11\|0.375340768\|22.39%
TUBB8P7
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	9040 cleaned_snpindel	16	rs4299156 dbSNP Clinvar	90162186	79.77	T	C	PASS	0/1	0	NON_SYNONYMOUS_CODING	MODERATE	None	0.33207	0.33210			0.00		None None	None None None None	None
	View	9040 cleaned_snpindel	16	rs11076666 dbSNP Clinvar	90161852	212.77	A	G	PASS	0/1	0	SYNONYMOUS_CODING	LOW	None	0.46406	0.46410					None None	None None None None	None
	View	9040 cleaned_snpindel	16	rs56265310,rs796068812 dbSNP Clinvar	90161965	12.96	GT	G	LowQual;VariantFilter	0/1	0	FRAME_SHIFT	HIGH	None	0.58506	0.58510					None None	None None None None	None
VPS35
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	9040 cleaned_snpindel	16	rs168745 dbSNP Clinvar	46696284	21851.77	G	A	VariantFilter	1/1	0	SYNONYMOUS_CODING	LOW	None	0.97444	0.97440	0.02883				None None	None None None None	VPS35\|0.637218809\|10.55%
ZFHX3
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	9040 cleaned_snpindel	16	rs10852515 dbSNP Clinvar	72991660	261.78	C	G	PASS	1/1	0	SYNONYMOUS_CODING	LOW	None	0.77097	0.77100	0.16405				None None	None None None None	ZFHX3\|0.937778878\|2.56%
	View	9040 cleaned_snpindel	16	rs4788682 dbSNP Clinvar	72991715	267.77	A	G	PASS	0/1	0	NON_SYNONYMOUS_CODING	MODERATE	None	0.76558	0.76560	0.17791	0.67	0.00		None None	None None None None	ZFHX3\|0.937778878\|2.56%
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	9040 cleaned_snpindel	16	rs191202602 dbSNP Clinvar	2352899	65.77	C	T	PASS	0/1	0	None	None	None	0.00200	0.00200					None None	None None None None	ABCA3\|0.043607901\|64.64%
	View	9040 cleaned_snpindel	16	rs732055 dbSNP Clinvar	2750192	78.77	T	C	PASS	0/1	0	None	None	None	0.37859	0.37860					None None	None None None None	KCTD5\|0.070138457\|57.46%
	View	9040 cleaned_snpindel	16	rs3094780 dbSNP Clinvar	2801159	65.28	A	G	PASS	1/1	0	None	None	None	0.72923	0.72920					None None	None None None None	None
	View	9040 cleaned_snpindel	16	rs6500549 dbSNP Clinvar	3736698	111.9	T	G	PASS	1/1	0	None	None	None	0.38099	0.38100					None None	None None None None	TRAP1\|0.168599632\|40.51%
	View	9040 cleaned_snpindel	16	rs1861153 dbSNP Clinvar	3963309	98.28	C	G	PASS	1/1	0	None	None	None	0.98482	0.98480					None None	None None None None	None
	View	9040 cleaned_snpindel	16	rs28373233 dbSNP Clinvar	32485974	162.77	G	A	PASS	0/1	0	None	None	None							None None	None None None None	None
	View	9040 cleaned_snpindel	16	rs2255499 dbSNP Clinvar	4072616	201.8	C	T	PASS	1/1	0	None	None	None	0.94529	0.94530					None None	None None None None	ADCY9\|0.187231083\|38.15%
	View	9040 cleaned_snpindel	16	rs758443 dbSNP Clinvar	4072774	818.77	A	G	PASS	1/1	0	None	None	None	0.94509	0.94510					None None	None None None None	ADCY9\|0.187231083\|38.15%
	View	9040 cleaned_snpindel	16	rs566188416,rs34384781 dbSNP Clinvar	5097472	12.96	C	CT	LowQual;VariantFilter	0/1	0	None	None	None	0.22983	0.22980					None None	None None None None	ALG1\|0.0336465\|67.9%,C16orf89\|0.005419562\|85.31%
	View	9040 cleaned_snpindel	16	rs35626345,rs397855425 dbSNP Clinvar	5188597	48.25	CT	C	PASS	1/1	0	None	None	None	0.51578	0.51580					None None	None None None None	None
	View	9040 cleaned_snpindel	16	rs2049696 dbSNP Clinvar	5344183	100.03	T	A	PASS	1/1	0	None	None	None	0.78594	0.78590					None None	None None None None	None
	View	9040 cleaned_snpindel	16	rs6501014 dbSNP Clinvar	7767526	81.28	T	A	PASS	1/1	0	None	None	None	0.60543	0.60540					None None	None None None None	None
	View	9040 cleaned_snpindel	16	rs7190648 dbSNP Clinvar	5442530	174.77	A	T	PASS	0/1	0	None	None	None	0.32828	0.32830					None None	None None None None	None
	View	9040 cleaned_snpindel	16	rs12920675 dbSNP Clinvar	5507103	227.77	G	A	PASS	0/1	0	None	None	None	0.35763	0.35760					None None	None None None None	None
	View	9040 cleaned_snpindel	16	rs112342476 dbSNP Clinvar	5507363	89.77	T	A	PASS	0/1	0	None	None	None	0.14397	0.14400					None None	None None None None	None
	View	9040 cleaned_snpindel	16	rs11863148 dbSNP Clinvar	7125901	61.28	T	G	PASS	1/1	0	None	None	None	0.87320	0.87320					None None	None None None None	RBFOX1\|0.999507918\|0.34%
	View	9040 cleaned_snpindel	16	rs1478723 dbSNP Clinvar	7220379	444.77	A	C	PASS	1/1	0	None	None	None	0.88698	0.88700					None None	None None None None	RBFOX1\|0.999507918\|0.34%
	View	9040 cleaned_snpindel	16	rs71152905,rs398028674 dbSNP Clinvar	8707640	107.73	C	CA	PASS	0/1	0	None	None	None							None None	None None None None	None
	View	9040 cleaned_snpindel	16	rs62015808 dbSNP Clinvar	7266511	66.28	T	C	PASS	1/1	0	None	None	None	0.37400	0.37400					None None	None None None None	RBFOX1\|0.999507918\|0.34%
	View	9040 cleaned_snpindel	16	rs62015809 dbSNP Clinvar	7266558	65.28	G	A	PASS	1/1	0	None	None	None	0.38179	0.38180					None None	None None None None	RBFOX1\|0.999507918\|0.34%
	View	9040 cleaned_snpindel	16	rs28626024 dbSNP Clinvar	7417203	57.28	A	G	PASS	1/1	0	None	None	None	0.92772	0.92770					None None	None None None None	RBFOX1\|0.999507918\|0.34%
	View	9040 cleaned_snpindel	16	rs1034987 dbSNP Clinvar	7560424	183.9	G	C	PASS	1/1	0	None	None	None	0.70787	0.70790					None None	None None None None	RBFOX1\|0.999507918\|0.34%
	View	9040 cleaned_snpindel	16	rs12919992 dbSNP Clinvar	7560484	245.79	T	C	PASS	1/1	0	None	None	None	0.37420	0.37420					None None	None None None None	RBFOX1\|0.999507918\|0.34%
	View	9040 cleaned_snpindel	16	rs59583874,rs572773444,rs149996427,rs796657465 dbSNP Clinvar	7560489	263.74	CTG	C	PASS	1/1	0	None	None	None							None None	None None None None	RBFOX1\|0.999507918\|0.34%
	View	9040 cleaned_snpindel	16	rs4787040 dbSNP Clinvar	7560980	17470.77	A	T	VariantFilter	1/1	0	None	None	None	0.36961	0.36960					None None	None None None None	RBFOX1\|0.999507918\|0.34%
	View	9040 cleaned_snpindel	16	rs7404084 dbSNP Clinvar	7561046	14543.77	T	C	VariantFilter	1/1	0	None	None	None	0.91294	0.91290					None None	None None None None	RBFOX1\|0.999507918\|0.34%
	View	9040 cleaned_snpindel	16	rs7186099 dbSNP Clinvar	7561333	856.77	G	A	PASS	1/1	0	None	None	None	0.75220	0.75220					None None	None None None None	RBFOX1\|0.999507918\|0.34%
	View	9040 cleaned_snpindel	16	rs8049085 dbSNP Clinvar	7603145	185.9	T	G	PASS	1/1	0	None	None	None	0.54273	0.54270					None None	None None None None	RBFOX1\|0.999507918\|0.34%
	View	9040 cleaned_snpindel	16	rs6501013 dbSNP Clinvar	7767521	81.28	C	T	PASS	1/1	0	None	None	None	0.98962	0.98960					None None	None None None None	None
	View	9040 cleaned_snpindel	16	rs1273366 dbSNP Clinvar	8788182	273.8	C	G	PASS	1/1	0	None	None	None	0.47344	0.47340					None None	None None None None	ABAT\|0.163825558\|41.04%
	View	9040 cleaned_snpindel	16	rs6498173 dbSNP Clinvar	8945149	166.8	T	C	PASS	1/1	0	None	None	None	0.97504	0.97500					None None	None None None None	None
	View	9040 cleaned_snpindel	16	rs4985007 dbSNP Clinvar	8945208	42.77	A	C	PASS	0/1	0	None	None	None	0.07628	0.07628					None None	None None None None	None
	View	9040 cleaned_snpindel	16	.	8945834	502.73	CT...	C	PASS	0/1	0	None	None	None							None None	None None None None	None
	View	9040 cleaned_snpindel	16	rs1657090 dbSNP Clinvar	8971671	112.9	G	C	PASS	1/1	0	None	None	None	0.52736	0.52740					None None	None None None None	None
	View	9040 cleaned_snpindel	16	rs7199048 dbSNP Clinvar	8971711	142.84	A	C	PASS	1/1	0	None	None	None	0.92692	0.92690					None None	None None None None	None
	View	9040 cleaned_snpindel	16	rs56958347 dbSNP Clinvar	32486171	271.73	G	GC	VariantFilter	0/1	0	None	None	None							None None	None None None None	None
	View	9040 cleaned_snpindel	16	rs11639706 dbSNP Clinvar	9119249	65.28	G	C	PASS	1/1	0	None	None	None	0.32129	0.32130					None None	None None None None	None
	View	9040 cleaned_snpindel	16	rs16965133 dbSNP Clinvar	9409465	64.28	A	G	PASS	1/1	0	None	None	None	0.20787	0.20790					None None	None None None None	None
	View	9040 cleaned_snpindel	16	rs11643736 dbSNP Clinvar	9450312	62.28	C	A	PASS	1/1	0	None	None	None	0.25899	0.25900					None None	None None None None	None
	View	9040 cleaned_snpindel	16	rs7187882 dbSNP Clinvar	9517889	242.77	G	A	PASS	0/1	0	None	None	None	0.33546	0.33550					None None	None None None None	None
	View	9040 cleaned_snpindel	16	rs28556717 dbSNP Clinvar	10666035	139.77	G	A	PASS	0/1	0	None	None	None	0.26777	0.26780					None None	None None None None	EMP2\|0.028816981\|69.99%
	View	9040 cleaned_snpindel	16	rs1084542 dbSNP Clinvar	10821610	247.78	A	G	PASS	1/1	0	None	None	None	0.82828	0.82830					None None	None None None None	None
	View	9040 cleaned_snpindel	16	rs2032929 dbSNP Clinvar	11444403	65.28	T	C	PASS	1/1	0	None	None	None	0.88638	0.88640					None None	None None None None	RMI2\|0.047383579\|63.49%
	View	9040 cleaned_snpindel	16	rs8053983 dbSNP Clinvar	11507025	139.9	T	C	PASS	1/1	0	None	None	None	0.70986	0.70990					None None	None None None None	None
	View	9040 cleaned_snpindel	16	rs4332761 dbSNP Clinvar	11529995	64.28	T	C	PASS	1/1	0	None	None	None	0.57129	0.57130					None None	None None None None	None
	View	9040 cleaned_snpindel	16	rs9935945 dbSNP Clinvar	11643631	6473.77	G	A	VariantFilter	0/1	0	None	None	None	0.16773	0.16770	0.19951				None None	None None None None	LITAF\|0.097079199\|51.7%
	View	9040 cleaned_snpindel	16	rs80032403 dbSNP Clinvar	33953069	107.28	A	G	PASS	1/1	0	None	None	None							None None	None None None None	None
	View	9040 cleaned_snpindel	16	rs79852290 dbSNP Clinvar	11643727	3192.79	G	A	PASS	0/1	0	None	None	None	0.04952	0.04952					None None	None None None None	LITAF\|0.097079199\|51.7%
	View	9040 cleaned_snpindel	16	rs75012078 dbSNP Clinvar	11643856	1110.77	G	A	PASS	0/1	0	None	None	None	0.04972	0.04972					None None	None None None None	LITAF\|0.097079199\|51.7%
	View	9040 cleaned_snpindel	16	rs74469401 dbSNP Clinvar	11643896	474.77	G	A	PASS	0/1	0	None	None	None	0.04972	0.04972					None None	None None None None	LITAF\|0.097079199\|51.7%
	View	9040 cleaned_snpindel	16	rs9921698 dbSNP Clinvar	11645232	47.77	C	T	PASS	0/1	0	None	None	None	0.56889	0.56890					None None	None None None None	LITAF\|0.097079199\|51.7%
	View	9040 cleaned_snpindel	16	rs7206280 dbSNP Clinvar	11645520	2033.73	C	A	PASS	0/1	0	None	None	None	0.52177	0.52180					None None	None None None None	LITAF\|0.097079199\|51.7%
	View	9040 cleaned_snpindel	16	rs228788 dbSNP Clinvar	32486499	10901.77	A	G	VariantFilter	0/1	0	None	None	None							None None	None None None None	None
	View	9040 cleaned_snpindel	16	rs35493477,rs397855238,rs397745687 dbSNP Clinvar	11645776	1664.73	CT	C	PASS	0/1	0	None	None	None	0.45727	0.45730					None None	None None None None	LITAF\|0.097079199\|51.7%
	View	9040 cleaned_snpindel	16	rs4270190 dbSNP Clinvar	11649454	106.03	A	G	PASS	1/1	0	None	None	None	0.74261	0.74260					None None	None None None None	LITAF\|0.097079199\|51.7%
	View	9040 cleaned_snpindel	16	rs7403964 dbSNP Clinvar	11650057	1469.77	T	C	PASS	1/1	0	None	None	None	0.74062	0.74060					None None	None None None None	LITAF\|0.097079199\|51.7%
	View	9040 cleaned_snpindel	16	rs11644565 dbSNP Clinvar	11650091	1166.77	A	T	PASS	0/1	0	None	None	None	0.07907	0.07907					None None	None None None None	LITAF\|0.097079199\|51.7%
	View	9040 cleaned_snpindel	16	rs6498222 dbSNP Clinvar	11650887	1069.77	C	T	PASS	0/1	0	None	None	None	0.59245	0.59250					None None	None None None None	LITAF\|0.097079199\|51.7%
	View	9040 cleaned_snpindel	16	rs372560572 dbSNP Clinvar	11650920	317.73	G	GT	PASS	0/1	0	None	None	None							None None	None None None None	LITAF\|0.097079199\|51.7%
	View	9040 cleaned_snpindel	16	rs112158406 dbSNP Clinvar	11650930	1300.73	G	GT...	PASS	1/1	0	None	None	None							None None	None None None None	LITAF\|0.097079199\|51.7%
	View	9040 cleaned_snpindel	16	.	15829033	316.73	C	CA	VariantFilter	0/1	0	None	None	None							None None	None None None None	MYH11\|0.723905691\|7.87%
	View	9040 cleaned_snpindel	16	rs435108 dbSNP Clinvar	12009614	727.77	G	A	PASS	0/1	0	None	None	None	0.84984	0.84980	0.08339				None None	None None None None	GSPT1\|0.477722435\|16.86%

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+ Genes 19

+ Genes associated with diseases 13

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

AARS

CCDC78

CIITA

CTD-3088G3.8

DNAAF1

E2F4

FA2H

FUS

GAN

GSPT1

IRX3

JPH3

LITAF

MYH11

PRRT2

THAP11

TUBB8P7

VPS35

ZFHX3

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