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

DBSNP BUILD: EXCLUDE VARIANTS AT VARISNP	READ DEPTH: QUAL:	VARIANTS PER GENE:
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

FREQUENCIES

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

SCORES

SIFT SCORE	EXCLUDE VARIANTS WITHOUT SIFT SCORE	POLYPHEN2 SCORE	EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
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+ Genes 1

Genes:
RBM6,

+ Genes associated with diseases

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 131
Number of Genes: 1

Export to: CSV

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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	combined sample_50.variant14	22	rs151165173,rs58327765 dbSNP Clinvar	30863234	501.49	A	AC...	PASS	3/3	3	None	None	None							None None	None None None None	SEC14L3\|0.147250694\|43.43%
	View	combined sample_50.variant14	10	rs145303948,rs58544210 dbSNP Clinvar	123270292	284.16	A	AT...	PASS	3/3	8	None	None	None	0.24581	0.24580					None None	None None None None	FGFR2\|0.998388411\|0.5%
	View	combined sample_50.variant14	2	.	191002631	107.9	A	AT...	PASS	3/3	6	None	None	None							None None	None None None None	C2orf88\|0.012514697\|78.88%
	View	combined sample_50.variant14	18	rs201936844,rs55849071 dbSNP Clinvar	67515009	1113.28	A	T,...	PASS	3/3	5	None	None	None	0.56190	0.88300					None None	None None None None	DOK6\|0.414097507\|19.92%,CD226\|0.\|85.1%
	View	combined sample_50.variant14	12	rs11171845,rs142212258,rs386376624 dbSNP Clinvar	56826758	1965.02	A	G,...	PASS	3/3	59	None	None	None	0.39537	0.39540					None None	None None None None	TIMELESS\|0.36130758\|23.36%
	View	combined sample_50.variant14	1	rs34366135 dbSNP Clinvar	62417952	476.85	A	AG...	PASS	3/3	13	None	None	None							None None	None None None None	INADL\|0.105153826\|50.2%
	View	combined sample_50.variant14	X	.	8270569	530.65	AA...	AA...	PASS	3/3	18	None	None	None							None None	None None None None	None
	View	combined sample_50.variant14	17	.	18208789	31.21	AAC	AA...	PASS	3/3	12	None	None	None							None None	None None None None	TOP3A\|0.330525347\|25.46%
	View	combined sample_50.variant14	22	rs768960142 dbSNP Clinvar	29313256	306.74	AA...	AA...	PASS	3/3	13	None	None	None							None None	None None None None	ZNRF3\|0.247803411\|31.75%
	View	combined sample_50.variant14	5	.	141257977	253.37	AG...	AG...	PASS	3/3	9	None	None	None							None None	None None None None	PCDH1\|0.2590564\|30.82%
	View	combined sample_50.variant14	2	.	31606985	52.37	AG...	AG...	PASS	3/3	2	None	None	None							None None	None None None None	XDH\|0.142298525\|44.11%
	View	combined sample_50.variant14	7	rs370984666 dbSNP Clinvar	139746521	318.77	AG...	AG...	PASS	3/3	10	None	None	None							None None	None None None None	PARP12\|0.044712183\|64.27%
	View	combined sample_50.variant14	5	rs757352664 dbSNP Clinvar	123966143	771.08	AG...	AG...	PASS	3/3	34	None	None	None							None None	None None None None	None
	View	combined sample_50.variant14	10	rs755011735 dbSNP Clinvar	71098436	54.73	AG...	A,...	PASS	3/3	7	None	None	None							None None	None None None None	HK1\|0.110453712\|49.13%
	View	combined sample_50.variant14	X	.	45606319	307.28	AG...	AG...	PASS	3/3	18	None	None	None							None None	None None None None	None
	View	combined sample_50.variant14	15	.	68594393	35.02	AG...	A,...	PASS	3/3	5	None	None	None							None None	None None None None	ITGA11\|0.205733649\|36.04%
	View	combined sample_50.variant14	8	.	71075146	110.81	AT	AT...	PASS	3/3	6	None	None	None							None None	None None None None	NCOA2\|0.961655489\|1.93%
	View	combined sample_50.variant14	5	.	180004163	4919.23	AT...	AT...	PASS	3/3	118	None	None	None							None None	None None None None	CNOT6\|0.652785136\|9.99%
	View	combined sample_50.variant14	1	rs200924427 dbSNP Clinvar	179317895	932.01	AT...	AT...	PASS	3/3	31	None	None	None							None None	None None None None	SOAT1\|0.187641103\|38.09%
	View	combined sample_50.variant14	6	rs70991068,rs571567653 dbSNP Clinvar	10891651	218.04	ATTTT	AT...	PASS	3/3	2	None	None	None							None None	None None None None	SYCP2L\|0.010875292\|80.19%
	View	combined sample_50.variant14	8	.	71581899	106.78	ATTTT	A,...	PASS	3/3	6	None	None	None							None None	None None None None	XKR9\|0.041312376\|65.36%
	View	combined sample_50.variant14	4	.	109810573	278.04	AT...	AT...	PASS	3/3	8	None	None	None							None None	None None None None	COL25A1\|0.612068275\|11.4%
	View	combined sample_50.variant14	17	rs745938905 dbSNP Clinvar	2588916	129.02	AT...	AT...	PASS	3/3	3	None	None	None							None None	None None None None	None
	View	combined sample_50.variant14	2	rs571309687 dbSNP Clinvar	169104054	2204.67	C	CC...	PASS	3/3	75	None	None	None	0.42931	0.42930					None None	None None None None	STK39\|0.757526204\|6.91%
	View	combined sample_50.variant14	19	rs74176633,rs57613908 dbSNP Clinvar	8319206	111.82	C	CA...	PASS	3/3	4	None	None	None							None None	None None None None	CERS4\|0.004329511\|86.56%
	View	combined sample_50.variant14	3	rs534534280 dbSNP Clinvar	149051269	233.78	C	CT...	PASS	3/3	3	None	None	None							None None	None None None None	TM4SF18\|0.060942194\|59.62%
	View	combined sample_50.variant14	5	rs11442944 dbSNP Clinvar	4095683	223.9	C	CT...	PASS	3/3	7	None	None	None	0.47704	0.47700					None None	None None None None	None
	View	combined sample_50.variant14	17	rs528182725,rs746150803,rs58333377 dbSNP Clinvar	67131029	306.36	C	CT...	PASS	3/3	18	None	None	None	0.84944	0.84940					None None	None None None None	ABCA6\|0.006278632\|84.32%
	View	combined sample_50.variant14	5	rs375484670,rs386404300 dbSNP Clinvar	82135830	597.21	C	CA...	PASS	3/3	4	None	None	None	0.97943	0.97940					None None	None None None None	None
	View	combined sample_50.variant14	17	rs112110060,rs60453390 dbSNP Clinvar	77089873	228.46	C	CC...	PASS	3/3	8	None	None	None							None None	None None None None	RBFOX3\|0.823250139\|5.23%
	View	combined sample_50.variant14	18	rs10651301,rs58012253 dbSNP Clinvar	5197503	482.4	C	CA...	PASS	3/3	14	None	None	None							None None	None None None None	None
	View	combined sample_50.variant14	3	rs36055094 dbSNP Clinvar	8784046	131.07	C	CA...	PASS	3/3	7	None	None	None							None None	None None None None	SSUH2\|0.023073982\|72.66%,CAV3\|0.509446113\|15.4%
	View	combined sample_50.variant14	1	.	16370873	1073.12	C	CA...	PASS	3/3	26	None	None	None	0.72624						None None	None None None None	CLCNKB\|0.024900854\|71.85%
	View	combined sample_50.variant14	1	rs771634818,rs138734960,rs59649331 dbSNP Clinvar	3761262	142.73	C	CA...	PASS	3/3	3	None	None	None							None None	None None None None	CEP104\|0.016991297\|75.85%
	View	combined sample_50.variant14	6	rs71536155,rs9282285 dbSNP Clinvar	32724802	892.28	C	CT...	PASS	3/3	26	None	None	None	0.66973	0.66970					None None	None None None None	HLA-DQB2\|0.00469019\|86.22%
	View	combined sample_50.variant14	17	rs371115974 dbSNP Clinvar	5116303	365.43	C	CT...	PASS	3/3	1	None	None	None							None None	None None None None	SCIMP\|0.003653107\|87.51%
	View	combined sample_50.variant14	4	rs71673486 dbSNP Clinvar	72620865	122.67	C	CT...	PASS	3/3	4	None	None	None	0.26238	0.26240					None None	None None None None	GC\|0.070899488\|57.25%
	View	combined sample_50.variant14	5	rs70988805 dbSNP Clinvar	40728383	319.03	C	CA...	PASS	3/3	5	None	None	None							None None	None None None None	TTC33\|0.177110064\|39.41%
	View	combined sample_50.variant14	1	.	27992800	476.74	CA	CA...	PASS	3/3	11	None	None	None							None None	None None None None	IFI6\|0.002694525\|89.24%
	View	combined sample_50.variant14	7	rs113503344 dbSNP Clinvar	21905938	96.14	CA	CA...	PASS	3/3	1	None	None	None							None None	None None None None	DNAH11\|0.38215847\|21.9%
	View	combined sample_50.variant14	18	rs111241934 dbSNP Clinvar	59478280	292.8	CA	CA...	PASS	3/3	21	None	None	None							None None	None None None None	RNF152\|0.214748923\|35.04%
	View	combined sample_50.variant14	16	.	21994284	110.83	CAA	C,...	PASS	3/3	6	None	None	None							None None	None None None None	UQCRC2\|0.300516158\|27.63%
	View	combined sample_50.variant14	19	.	7116711	876.8	CAAA	CA...	PASS	3/3	11	None	None	None							None None	None None None None	INSR\|0.981323022\|1.43%
	View	combined sample_50.variant14	X	rs372778192 dbSNP Clinvar	110464173	512.46	CAAA	C,...	PASS	3/3	14	None	None	None							None None	None None None None	PAK3\|0.832123135\|5.06%
	View	combined sample_50.variant14	4	rs766458834 dbSNP Clinvar	155295154	233.84	CA...	CA...	PASS	3/3	10	None	None	None							None None	None None None None	DCHS2\|0.027332994\|70.73%
	View	combined sample_50.variant14	18	.	32838833	193.57	CA...	C,...	PASS	3/3	4	None	None	None							None None	None None None None	ZNF397\|0.019004242\|74.67%,ZSCAN30\|0.013257278\|78.33%
	View	combined sample_50.variant14	7	rs777311253 dbSNP Clinvar	150327234	781.72	CA...	CA...	PASS	3/3	18	None	None	None							None None	None None None None	GIMAP6\|0.000963002\|95.71%
	View	combined sample_50.variant14	13	rs753115876 dbSNP Clinvar	75873959	53.36	CA...	CA...	PASS	3/3	5	None	None	None							None None	None None None None	TBC1D4\|0.202912973\|36.39%
	View	combined sample_50.variant14	3	.	109049147	97.73	CA...	CA...	PASS	3/3	7	None	None	None							None None	None None None None	DPPA4\|0.001219572\|94.35%
	View	combined sample_50.variant14	7	rs780401264 dbSNP Clinvar	43665352	622.22	CAGAG	CA...	PASS	3/3	19	None	None	None							None None	None None None None	STK17A\|0.045556394\|64.03%,COA1\|0.003135532\|88.41%
	View	combined sample_50.variant14	5	rs141222541 dbSNP Clinvar	52251176	4339.05	CA...	C,...	PASS	3/3	61	None	None	None	0.40635	0.40630					None None	None None None None	ITGA1\|0.38715487\|21.59%
	View	combined sample_50.variant14	4	.	100226658	328.16	CA...	CA...	PASS	3/3	2	None	None	None							None None	None None None None	ADH1B\|0.074839204\|56.32%
	View	combined sample_50.variant14	X	rs796916849 dbSNP Clinvar	109917685	446.04	CCA	CC...	PASS	3/3	8	None	None	None							None None	None None None None	CHRDL1\|0.341792402\|24.72%
	View	combined sample_50.variant14	12	.	102063901	1103.65	CC...	CC...	PASS	3/3	21	None	None	None							None None	None None None None	MYBPC1\|0.380233302\|22.03%
	View	combined sample_50.variant14	5	rs530676282,rs368360524 dbSNP Clinvar	1799989	171.03	CG	CG...	PASS	3/3	17	None	None	None	0.37121	0.37120					None None	None None None None	MRPL36\|0.002012562\|90.97%
	View	combined sample_50.variant14	1	.	236924732	272.02	CG...	C,...	PASS	3/3	9	None	None	None							None None	None None None None	ACTN2\|0.55570405\|13.49%
	View	combined sample_50.variant14	19	rs59258670,rs796243818 dbSNP Clinvar	44006609	165.09	CT	CT...	PASS	3/3	18	None	None	None	0.16913	0.16910					None None	None None None None	PHLDB3\|0.011111956\|79.96%
	View	combined sample_50.variant14	21	rs574050191 dbSNP Clinvar	18816599	152.48	CT	CT...	PASS	3/3	3	None	None	None	0.05391	0.05391					None None	None None None None	LINC01549\|0.001582759\|92.4%
	View	combined sample_50.variant14	14	.	73959703	693.61	CT	CT...	PASS	3/3	33	None	None	None							None None	None None None None	HEATR4\|0.005039419\|85.75%
	View	combined sample_50.variant14	18	.	64171528	34.03	CT	CT...	PASS	3/3	6	None	None	None							None None	None None None None	CDH19\|0.03445316\|67.64%
	View	combined sample_50.variant14	14	.	23281982	86.65	CT...	CT...	PASS	3/3	3	None	None	None							None None	None None None None	SLC7A7\|0.311807291\|26.7%
	View	combined sample_50.variant14	5	.	33969170	305.57	CT...	CT...	PASS	3/3	4	None	None	None							None None	None None None None	SLC45A2\|0.156382322\|42.11%
	View	combined sample_50.variant14	4	.	16168614	36.12	CTT	C,...	PASS	3/3	2	None	None	None							None None	None None None None	TAPT1\|0.263958572\|30.38%
	View	combined sample_50.variant14	3	.	151538304	596.94	CTT	CT...	PASS	3/3	16	None	None	None							None None	None None None None	AADAC\|0.00221398\|90.39%
	View	combined sample_50.variant14	9	.	115635917	3306.71	CTT	C,...	PASS	3/3	154	None	None	None	0.32129						None None	None None None None	SNX30\|0.232108411\|33.19%
	View	combined sample_50.variant14	7	rs796351129,rs569248538 dbSNP Clinvar	143047873	210.81	CTT	CT...	PASS	3/3	8	None	None	None							None None	None None None None	CLCN1\|0.158802473\|41.75%
	View	combined sample_50.variant14	17	rs770357502 dbSNP Clinvar	65720448	59.28	CTTT	C,...	PASS	3/3	11	None	None	None							None None	None None None None	NOL11\|0.149207772\|43.11%
	View	combined sample_50.variant14	2	.	39181774	40.09	CTTT	CT...	PASS	3/3	6	None	None	None							None None	None None None None	ARHGEF33\|0.317513071\|26.27%
	View	combined sample_50.variant14	7	rs71074666 dbSNP Clinvar	83098714	852.98	CTTT	C,...	PASS	3/3	10	None	None	None	0.00140	0.00000					None None	None None None None	SEMA3E\|0.36164343\|23.33%
	View	combined sample_50.variant14	19	rs752273905,rs551686350 dbSNP Clinvar	18257909	42.32	CTTTT	CT...	PASS	3/3	3	None	None	None							None None	None None None None	MAST3\|0.05778294\|60.46%
	View	combined sample_50.variant14	15	.	59913070	130.65	CTTTT	CT...	PASS	3/3	8	None	None	None							None None	None None None None	GCNT3\|0.055622139\|61.04%
RBM6
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	combined sample_50.variant14	3	rs751626525 dbSNP Clinvar	50098993	419.42	CTTTT	CT...	PASS	3/3	38	None	None	None							None None	None None None None	RBM6\|0.375632091\|22.35%
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	combined sample_50.variant14	20	.	42225376	59.69	CT...	CT...	PASS	3/3	5	None	None	None							None None	None None None None	IFT52\|0.386520609\|21.64%
	View	combined sample_50.variant14	15	.	42622968	121.82	CT...	CT...	PASS	3/3	8	None	None	None							None None	None None None None	GANC\|0.071251222\|57.16%
	View	combined sample_50.variant14	11	.	118036178	103.99	CT...	C,...	PASS	3/3	7	None	None	None							None None	None None None None	SCN2B\|0.19363982\|37.45%
	View	combined sample_50.variant14	16	.	30390961	78.08	CT...	CT...	PASS	3/3	5	None	None	None							None None	None None None None	ZNF48\|0.026379714\|71.15%,SEPT1\|0.199779524\|36.76%
	View	combined sample_50.variant14	13	rs752967645 dbSNP Clinvar	76447950	128.7	CT...	CT...	PASS	3/3	5	None	None	None							None None	None None None None	LMO7DN\|0.000900221\|96.02%
	View	combined sample_50.variant14	11	rs763952101 dbSNP Clinvar	63663130	490.81	CT...	CT...	PASS	3/3	35	None	None	None							None None	None None None None	MARK2\|0.497643577\|15.95%
	View	combined sample_50.variant14	1	rs756474860 dbSNP Clinvar	45961327	200.49	CT...	CT...	PASS	3/3	3	None	None	None							None None	None None None None	CCDC163P\|0.014743479\|77.34%
	View	combined sample_50.variant14	12	rs763018873 dbSNP Clinvar	57496748	538.0	CT...	CT...	PASS	3/3	18	None	None	None							None None	None None None None	STAT6\|0.660002282\|9.7%
	View	combined sample_50.variant14	16	rs71389676,rs59287517 dbSNP Clinvar	71599604	1021.04	G	GC...	PASS	3/3	56	None	None	None	0.27756	0.27760					None None	None None None None	TAT\|0.948524499\|2.29%
	View	combined sample_50.variant14	1	rs71570909,rs57809020 dbSNP Clinvar	242048514	148.84	G	GT...	PASS	3/3	1	None	None	None	0.09704	0.14020					None None	None None None None	EXO1\|0.567140153\|13.1%
	View	combined sample_50.variant14	8	.	82754618	174.2	G	GG...	PASS	3/3	0	None	None	None							None None	None None None None	SNX16\|0.204860374\|36.14%
	View	combined sample_50.variant14	2	rs34879718,rs386391032,rs70949307 dbSNP Clinvar	120439702	89.9	G	GT...	PASS	3/3	9	None	None	None	0.55970	0.55970					None None	None None None None	TMEM177\|0.015159171\|77.04%
	View	combined sample_50.variant14	1	.	32044641	1710.94	G	GT...	PASS	3/3	26	None	None	None							None None	None None None None	TINAGL1\|0.063040472\|59.09%
	View	combined sample_50.variant14	20	rs149996168,rs71195440 dbSNP Clinvar	60900171	142.73	G	GG...	PASS	3/3	15	None	None	None							None None	None None None None	LAMA5\|0.046968919\|63.61%
	View	combined sample_50.variant14	17	rs374602514 dbSNP Clinvar	14252807	252.62	G	GC...	PASS	3/3	46	None	None	None	0.72804	0.72800					None None	None None None None	None
	View	combined sample_50.variant14	5	rs141819080,rs57372594 dbSNP Clinvar	141691500	405.93	G	GG...	PASS	3/3	32	None	None	None	0.77037	0.77040					None None	None None None None	SPRY4\|0.453499581\|18%
	View	combined sample_50.variant14	7	rs58295141,rs10268443 dbSNP Clinvar	38543104	2206.53	G	C,...	PASS	3/3	21	None	None	None	0.31789	0.31790					None None	None None None None	AMPH\|0.168231418\|40.54%
	View	combined sample_50.variant14	2	.	97909899	142.22	G	GT...	PASS	3/3	6	None	None	None							None None	None None None None	ANKRD36\|0.001192347\|94.46%
	View	combined sample_50.variant14	7	rs200396435,rs531376380 dbSNP Clinvar	138453892	933.51	GAAA	GA...	PASS	3/3	37	None	None	None		0.09645					None None	None None None None	ATP6V0A4\|0.084008171\|54.41%
	View	combined sample_50.variant14	19	rs760885537 dbSNP Clinvar	543845	264.03	GAAA	GA...	PASS	3/3	13	None	None	None							None None	None None None None	None
	View	combined sample_50.variant14	5	rs757370808 dbSNP Clinvar	142606050	37.73	GA...	GA...	PASS	3/3	4	None	None	None							None None	None None None None	ARHGAP26\|0.689373516\|8.81%
	View	combined sample_50.variant14	19	rs752954723 dbSNP Clinvar	15225438	334.26	GC	G,...	PASS	3/3	7	None	None	None							None None	None None None None	SYDE1\|0.041852611\|65.16%
	View	combined sample_50.variant14	1	rs781809390 dbSNP Clinvar	145472558	1437.38	GCCC	G,...	PASS	3/3	57	None	None	None							None None	None None None None	ANKRD34A\|0.19061906\|37.75%
	View	combined sample_50.variant14	18	rs564378270,rs10617278 dbSNP Clinvar	812328	142.73	GCCCC	GC...	PASS	3/3	3	None	None	None	0.98482	0.98480					None None	None None None None	YES1\|0.823064094\|5.24%
	View	combined sample_50.variant14	10	rs782325219 dbSNP Clinvar	118466662	1358.46	GC...	GC...	PASS	3/3	23	None	None	None							None None	None None None None	HSPA12A\|0.32170374\|26.03%
	View	combined sample_50.variant14	2	rs763791656 dbSNP Clinvar	211036019	794.42	GG...	GG...	PASS	3/3	6	None	None	None							None None	None None None None	KANSL1L\|0.271793554\|29.78%
	View	combined sample_50.variant14	2	rs144890858 dbSNP Clinvar	100167615	121.6	GGTGT	G,...	PASS	3/3	3	None	None	None							None None	None None None None	AFF3\|0.40331812\|20.57%
	View	combined sample_50.variant14	2	.	217123230	73.82	GG...	GG...	PASS	3/3	13	None	None	None							None None	None None None None	MARCH4\|0.393664746\|21.15%

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