2	2	SNV
1	1	SO:0001483
3	3	SNP
5	2	substitution
4	1	SO:1000002
7	2	copy_number_variation
6	1	SO:0001019
8	3	CNV
10	2	insertion
9	1	SO:0000667
12	2	deletion
11	1	SO:0000159
14	2	indel
13	1	SO:1000032
16	2	tandem_repeat
15	1	SO:0000705
18	2	sequence_alteration
17	1	SO:0001059
375	2	genetic_marker
376	1	SO:0001645
111	2	structural_variant
112	1	SO:0001537
113	3	SV
114	2	probe
115	1	SO:0000051
116	3	CNV_PROBE
200	2	copy_number_gain
201	1	SO:0001742
202	3	Gain
203	2	copy_number_loss
204	1	SO:0001743
205	3	Loss
206	2	inversion
207	1	SO:1000036
208	2	complex_structural_alteration
209	1	SO:0001784
210	3	Complex
211	2	tandem_duplication
212	1	SO:1000173
213	3	Tandem duplication
242	2	mobile_element_insertion
243	1	SO:0001837
244	3	Mobile element insertion
286	2	interchromosomal_breakpoint
287	1	SO:0001873
288	3	Interchromosomal breakpoint
289	2	intrachromosomal_breakpoint
290	1	SO:0001874
291	3	Intrachromosomal breakpoint
292	2	translocation
293	1	SO:0000199
253	2	duplication
254	1	SO:1000035
331	3	Duplication
361	2	novel_sequence_insertion
362	1	SO:0001838
363	3	Novel sequence insertion
19	1	SO:0001628
20	2	intergenic_variant
294	6	38
21	3	INTERGENIC
118	5	transcript
295	1	SO:0001631
296	2	upstream_gene_variant
266	6	24
24	3	UPSTREAM
297	1	SO:0001632
298	2	downstream_gene_variant
265	6	25
27	3	DOWNSTREAM
125	4	splice-5
126	5	primary_transcript
32	1	SO:0001575
33	2	splice_donor_variant
145	6	3
34	3	ESSENTIAL_SPLICE_SITE
128	4	splice-3
129	1	SO:0001574
36	2	splice_acceptor_variant
37	1	SO:0001630
38	2	splice_region_variant
135	6	13
39	3	SPLICE_SITE
131	4	intron
40	1	SO:0001627
41	2	intron_variant
120	6	21
42	3	INTRONIC
133	4	untranslated_5
134	5	mRNA
43	1	SO:0001623
44	2	5_prime_UTR_variant
122	6	18
45	3	5PRIME_UTR
136	4	untranslated_3
46	1	SO:0001624
47	2	3_prime_UTR_variant
124	6	19
48	3	3PRIME_UTR
139	4	cds-synon
299	1	SO:0001819
300	2	synonymous_variant
132	6	15
54	3	SYNONYMOUS_CODING
141	4	missense
55	1	SO:0001583
301	2	missense_variant
153	6	12
57	3	NON_SYNONYMOUS_CODING
302	1	SO:0001821
303	2	inframe_insertion
140	6	10
304	1	SO:0001822
305	2	inframe_deletion
154	6	11
144	4	nonsense
62	1	SO:0001587
63	2	stop_gained
146	6	4
64	3	STOP_GAINED
65	1	SO:0001578
66	2	stop_lost
143	6	6
67	3	STOP_LOST
68	1	SO:0001567
69	2	stop_retained_variant
70	1	SO:0002012
306	2	start_lost
142	6	7
147	4	frameshift
72	1	SO:0001589
73	2	frameshift_variant
138	6	5
74	3	FRAMESHIFT_CODING
75	1	SO:0001626
76	2	incomplete_terminal_codon_variant
137	6	14
77	3	PARTIAL_CODON
78	1	SO:0001621
79	2	NMD_transcript_variant
262	6	22
80	3	NMD_TRANSCRIPT
150	5	ncRNA
81	1	SO:0001619
82	2	non_coding_transcript_variant
263	6	23
83	3	WITHIN_NON_CODING_GENE
307	1	SO:0001792
308	2	non_coding_transcript_exon_variant
119	6	20
152	5	miRNA
84	1	SO:0001620
85	2	mature_miRNA_variant
151	6	17
86	3	WITHIN_MATURE_miRNA
87	1	SO:0001580
88	2	coding_sequence_variant
149	6	16
89	3	CODING_UNKNOWN
155	5	regulatory_region
90	1	SO:0001566
91	2	regulatory_region_variant
309	6	36
92	3	REGULATORY_REGION
157	5	TF_binding_site
158	1	SO:0001782
159	2	TF_binding_site_variant
310	6	30
311	1	SO:0001893
312	2	transcript_ablation
127	6	1
313	1	SO:0001889
314	2	transcript_amplification
130	6	8
315	1	SO:0001895
316	2	TFBS_ablation
261	6	26
317	1	SO:0001892
318	2	TFBS_amplification
319	6	28
320	1	SO:0001894
321	2	regulatory_region_ablation
322	6	31
323	1	SO:0001891
324	2	regulatory_region_amplification
325	6	33
346	5	sequence_feature
326	1	SO:0001907
327	2	feature_elongation
328	1	SO:0001906
329	2	feature_truncation
330	6	37
416	1	SO:0001818
417	2	protein_altering_variant
98	2	mRNA
97	1	SO:0000234
100	2	transcript
99	1	SO:0000673
102	2	primary_transcript
101	1	SO:0000185
104	2	ncRNA
103	1	SO:0000655
106	2	miRNA
105	1	SO:0000276
108	2	regulatory_region
107	1	SO:0005836
110	2	binding_site
109	1	SO:0000409
255	2	sequence_feature
256	1	SO:0000110
377	420	uncertain significance
378	420	not provided
379	420	benign
380	420	likely benign
381	420	likely pathogenic
382	420	pathogenic
383	420	drug response
384	420	histocompatibility
385	420	other
386	420	confers sensitivity
387	420	risk factor
388	420	association
389	420	protective
215	10	unknown
216	10	untested
217	10	non-pathogenic
218	10	probable-non-pathogenic
219	10	probable-pathogenic
220	10	pathogenic
221	10	drug-response
222	10	histocompatibility
223	10	other
176	9	hapmap
177	9	ind_venter
178	9	ind_watson
179	9	fail_all
180	9	fail_nonref
181	9	fail_ambig
182	9	fail_gt_fq
183	9	fail_incons_map
184	9	fail_mult_map
185	9	fail_no_alleles
186	9	fail_no_gt
187	9	fail_no_map
188	9	fail_no_seq
189	9	fail_non_nt
190	9	fail_mult_alleles
214	9	fail_dbsnp_suspect
191	9	ph_hgmd_pub
193	9	ph_nhgri
194	9	ph_omim
195	9	ph_variants
196	9	ph_uniprot
197	9	ph_cosmic
198	9	ph_ega
257	9	hapmap_ceu
258	9	hapmap_hcb
259	9	hapmap_jpt
260	9	hapmap_yri
332	9	Affy_500K
333	9	Affy_SNP6
337	9	Cardio-Metabo_Chip
338	9	HumanOmni1-Quad
335	9	Illumina_1M-duo
334	9	Illumina_660Q
339	9	Illumina_CytoSNP12v1
342	9	Human610_Quad
343	9	HumanHap550
340	9	HumanHap650Y
341	9	HumanOmni2.5
245	9	PorcineSNP60
344	9	esp_6500
345	9	clin_assoc
360	9	all_chips
348	9	Chicken600K
349	9	EquineSNP50
350	9	BovineHD
351	9	BovineLD
352	9	BovineSNP50
355	9	phencode
354	9	HumanOmni5
356	9	OvineSNP50
357	9	OvineHDSNP
358	9	ExomeChip
359	9	ImmunoChip
373	9	HumanOmniExpress
374	9	ClinVar
353	9	MGP
390	9	HumanCoreExome
404	9	1kg_3
405	9	1kg_3_afr
406	9	1kg_3_amr
407	9	1kg_3_eas
408	9	1kg_3_sas
409	9	1kg_3_eur
410	9	1kg_3_com
411	9	1kg_3_afr_com
412	9	1kg_3_amr_com
413	9	1kg_3_eas_com
414	9	1kg_3_sas_com
415	9	1kg_3_eur_com
395	9	LSDB
396	9	dbPEX
397	9	HbVar
398	9	Infevers
399	9	KAT6BDB
400	9	LMDD
401	9	OIVD
402	9	PAHdb
270	8	tolerated
271	8	deleterious
391	8	tolerated - low confidence
392	8	deleterious - low confidence
272	7	probably damaging
273	7	possibly damaging
274	7	benign
275	7	unknown
267	12	sift
268	12	polyphen_humvar
269	12	polyphen_humdiv
224	11	Not tested
225	11	Benign
226	11	Pathogenic
227	11	Uncertain Significance
228	11	likely benign
229	11	likely pathogenic
364	11	not provided
365	11	association
366	11	risk factor
367	419	Multiple_observations
368	419	Frequency
369	419	HapMap
370	419	1000Genomes
371	419	Cited
372	419	ESP
418	419	Phenotype_or_Disease
421	419	ExAC