Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
UNK_chr17_75779806_75830799	75782239	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0262 a0001c0006t0005g0262	1	104	0.0096	24	c.-26 others(35): Show c.-2642_-2641insTTTTTTTTTTTTTTTTTTTTTTTT	UNK	ENSG00000132478.10	transcript	ENST00000589666.6	protein_coding		2566		chr17	TogoVar
UPF1_chr19_18826959_18873230	18829271	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0034 a0001c0003t0004g0034	1	86	0.0116	24	c.-29 others(35): Show c.-2939_-2938insATATATATATATATATATATATAT	UPF1	ENSG00000005007.14	transcript	ENST00000262803.10	protein_coding		2687		chr19	TogoVar
UPF1_chr19_18826959_18873230	18829592	C C	CATATATA others(17): Show CATATATATATACATATATATATGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	371	0.0027	24	c.-26 others(35): Show c.-2618_-2617insATATATATATACATATATATATGT	UPF1	ENSG00000005007.14	transcript	ENST00000262803.10	protein_coding		2366		chr19	TogoVar
UPF1_chr19_18826959_18873230	18829593	A A	ATATATAT others(17): Show ATATATATATATACATATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG01981.hp2 HG02071.hp1 others(7): Show HG00140.hp2 HG01981.hp2 HG02071.hp1 HG02300.hp2 HG03654.hp1 HG03942.hp1 NA18948.hp2 NA18956.hp1 NA18957.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0039 a0001c0001t0001g0218 others(6): Show a0001c0001t0001g0012 a0001c0001t0001g0039 a0001c0001t0001g0218 a0001c0001t0001g0232 a0001c0001t0001g0237 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0248	10	392	0.0255	24	c.-26 others(35): Show c.-2617_-2616insTATATATATATACATATATATATG	UPF1	ENSG00000005007.14	transcript	ENST00000262803.10	protein_coding		2365		chr19	TogoVar
UPF2_chr10_11915022_12047809	11917539	T T	TTATTTAT others(17): Show TTATTTATTTATGTATTTATTTATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0333 a0001c0001t0016g0333	1	332	0.0030	24	c.37 others(35): Show c.3758_*3759insCATAAATAAATACATAAATAAATA	UPF2	ENSG00000151461.20	transcript	ENST00000357604.10	protein_coding		2482		chr10	TogoVar
UPK1A_chr19_35661517_35683481	35682244	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG02293.hp2 HG03471.hp1 HG00558.hp2 HG02293.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0057 a0001c0001t0002g0223 a0001c0001t0002g0002 a0001c0001t0002g0057 a0001c0001t0002g0223	3	163	0.0184	24	c.42 others(35): Show c.4225_*4226insATATATATATATATATATATATAT	UPK1A	ENSG00000105668.8	transcript	ENST00000222275.3	protein_coding		3764		chr19	TogoVar
UPK3A_chr22_45279949_45300874	45282183	T T	TAGAAAGA others(17): Show TAGAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00558.hp1 HG01109.hp1 others(5): Show HG00423.hp2 HG00558.hp1 HG01109.hp1 HG01952.hp1 HG02040.hp1 HG02257.hp2 HG02523.hp2 NA18963.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0005 others(1): Show a0001c0002 a0001c0003 a0001c0005 a0002c0004	a0001c0002t0001 a0001c0003t0001 a0001c0005t0001 others(1): Show a0001c0002t0001 a0001c0003t0001 a0001c0005t0001 a0002c0004t0001	a0001c0002t0001g0176 a0001c0003t0001g0006 a0001c0003t0001g0008 others(4): Show a0001c0002t0001g0176 a0001c0003t0001g0006 a0001c0003t0001g0008 a0001c0003t0001g0061 a0001c0003t0001g0077 a0001c0005t0001g0066 a0002c0004t0001g0179	8	241	0.0332	24	c.-28 others(35): Show c.-2831_-2830insAGAAAGAAAGAAAGAAAGAAAGAA	UPK3A	ENSG00000100373.10	transcript	ENST00000216211.9	protein_coding		2765		chr22	TogoVar
UPK3BL1_chr7_102632025_102647791	102646920	A A	AGAGAAAG others(17): Show AGAGAAAGGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 NA18961.hp2 NA19062.hp1 HG01074.hp1 NA18961.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0004 a0001c0001t0006	a0001c0001t0004g0009 a0001c0001t0004g0014 a0001c0001t0006g0006 a0001c0001t0004g0009 a0001c0001t0004g0014 a0001c0001t0006g0006	3	113	0.0265	24	c.-41 others(35): Show c.-4180_-4179insCTTTCTTTCTTTCTTTCCTTTCTC	UPK3BL1	ENSG00000267368.1	transcript	ENST00000340457.8	protein_coding		4130		chr7	TogoVar
UPK3BL2_chr7_102532919_102548696	102547832	G G	GGAAAGAA others(17): Show GGAAAGAAAGAAAGAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp2 HG01884.hp1 HG01934.hp2 others(12): Show HG01258.hp2 HG01884.hp1 HG01934.hp2 HG02071.hp2 HG02132.hp1 HG03471.hp1 HG04115.hp1 NA18980.hp1 NA18990.hp1 NA18999.hp1 NA19007.hp1 NA19054.hp1 NA19054.hp2 NA19060.hp2 NA19089.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0002c0002t0003	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0002g0003 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0002g0003 a0001c0001t0004g0011 a0002c0002t0003g0004	15	44	0.3409	24	c.-41 others(35): Show c.-4197_-4196insTTTCTTTCTTTCTTTCTTTCTTTC	UPK3BL2	ENSG00000284981.2	transcript	ENST00000644544.2	protein_coding		4137		chr7	TogoVar
UPK3BL2_chr7_102532919_102548696	102547867	A A	AAGAAAGA others(17): Show AAGAAAGAAAGAAAGAAAGAAAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	175	0.0057	24	c.-42 others(35): Show c.-4232_-4231insATCTTTCTTTCTTTCTTTCTTTCT	UPK3BL2	ENSG00000284981.2	transcript	ENST00000644544.2	protein_coding		4172		chr7	TogoVar
UQCC1_chr20_35297578_35416973	35338888	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0042 a0002c0002t0003g0042	1	173	0.0058	24	c.573 others(41): Show c.573+8275_573+8276insATATATATATATATATATATATAT	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding	7/9			chr20	TogoVar
UQCC1_chr20_35297578_35416973	35338892	A A	AAAAAATA others(17): Show AAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02622.hp2 HG00642.hp1 HG02622.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0004 a0001c0001t0002 a0002c0002t0004	a0001c0001t0002g0243 a0002c0002t0004g0037 a0001c0001t0002g0243 a0002c0002t0004g0037	2	26	0.0769	24	c.573 others(41): Show c.573+8271_573+8272insATATATATATATATATATATTTTT	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding	7/9			chr20	TogoVar
UQCC1_chr20_35297578_35416973	35338892	A A	AAAATATA others(17): Show AAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	25	0.0400	24	c.573 others(41): Show c.573+8271_573+8272insATATATATATATATATATATATTT	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding	7/9			chr20	TogoVar
UQCC1_chr20_35297578_35416973	35338892	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03453.hp2 HG02572.hp1 HG03453.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0001 a0002c0002t0003	a0002c0002t0001g0095 a0002c0002t0003g0047 a0002c0002t0001g0095 a0002c0002t0003g0047	2	26	0.0769	24	c.573 others(41): Show c.573+8271_573+8272insATATATATATATATATATATATAT	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding	7/9			chr20	TogoVar
UQCC1_chr20_35297578_35416973	35338913	A A	ATATATAT others(17): Show ATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp2 HG01109.hp2 others(1): Show HG00140.hp2 HG00642.hp2 HG01109.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0190 a0001c0001t0001g0206 a0001c0001t0001g0230 others(1): Show a0001c0001t0001g0190 a0001c0001t0001g0206 a0001c0001t0001g0230 a0001c0001t0002g0244	4	112	0.0357	24	c.573 others(41): Show c.573+8250_573+8251insCATATATATATATATATATATATA	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding	7/9			chr20	TogoVar
UQCC1_chr20_35297578_35416973	35410704	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01346.hp1 HG02622.hp1 others(2): Show HG01168.hp1 HG01346.hp1 HG02622.hp1 HG03453.hp1 NA18978.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0216 others(2): Show a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0216 a0001c0001t0001g0217 a0002c0002t0001g0086	5	61	0.0820	24	c.24+ others(39): Show c.24+1235_24+1236insTTTTTTTTTTTTTTTTTTTTTTTT	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding	1/9			chr20	TogoVar
UQCC1_chr20_35297578_35416973	35412617	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG02622.hp2 NA18947.hp2 others(1): Show HG01081.hp2 HG02622.hp2 NA18947.hp2 NA18949.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0004 a0002c0002t0001 a0002c0002t0004	a0002c0002t0001g0071 a0002c0002t0001g0079 a0002c0002t0001g0080 others(1): Show a0002c0002t0001g0071 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0004g0037	4	68	0.0588	24	c.-65 others(33): Show c.-655_-654insTTTTTTTTTTTTTTTTTTTTTTTT	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding		645		chr20	TogoVar
UQCC5_chr3_52531605_52546890	52542619	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	6	0.1667	24	c.21 others(35): Show c.2134_*2135insAAAAAAAAAAAAAAAAAAAAAAAA	UQCC5	ENSG00000168273.8	transcript	ENST00000477703.6	protein_coding		730		chr3	TogoVar
UQCR10_chr22_29762369_29775413	29763292	C C	CAATAAAT others(17): Show CAATAAATAAATAAATAAATAAATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 NA18984.hp2 HG00099.hp1 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0001 a0001c0001t0001g0013	2	166	0.0120	24	c.-41 others(35): Show c.-4107_-4106insAATAAATAAATAAATAAATAAATA	UQCR10	ENSG00000184076.13	transcript	ENST00000330029.6	protein_coding		4076		chr22	TogoVar
URAD_chr13_27972717_27993693	27990845	A A	ATAGGTAT others(17): Show ATAGGTATAGGTATAGGTATATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0125 a0001c0005t0002g0125	1	159	0.0063	24	c.-22 others(35): Show c.-2209_-2208insCACATATACCTATACCTATACCTA	URAD	ENSG00000183463.7	transcript	ENST00000332715.6	protein_coding		2153		chr13	TogoVar
URAD_chr13_27972717_27993693	27990950	G G	GGTATATG others(17): Show GGTATATGTATATGTATATGTATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG03453.hp1 NA19043.hp2 HG01243.hp2 HG03453.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0129 a0001c0001t0002g0021 a0001c0001t0002g0129	3	396	0.0076	24	c.-23 others(35): Show c.-2314_-2313insATATACATATACATATACATATAC	URAD	ENSG00000183463.7	transcript	ENST00000332715.6	protein_coding		2258		chr13	TogoVar
URAD_chr13_27972717_27993693	27991142	G G	GGTATATG others(17): Show GGTATATGTATATGTATATGTATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG02630.hp1 HG01243.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0038 a0001c0001t0001g0014 a0001c0001t0001g0038	2	221	0.0090	24	c.-25 others(35): Show c.-2506_-2505insATATACATATACATATACATATAC	URAD	ENSG00000183463.7	transcript	ENST00000332715.6	protein_coding		2450		chr13	TogoVar
URAD_chr13_27972717_27993693	27991331	A A	ATAGGTAT others(17): Show ATAGGTATATGTATATGTATAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0125 a0001c0005t0002g0125	1	403	0.0025	24	c.-26 others(35): Show c.-2695_-2694insCACCTATACATATACATATACCTA	URAD	ENSG00000183463.7	transcript	ENST00000332715.6	protein_coding		2639		chr13	TogoVar
URB1_chr21_32306018_32398012	32361159	A A	AAAAGAAA others(17): Show AAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00621.hp2 HG00673.hp1 others(57): Show HG00408.hp1 HG00621.hp2 HG00673.hp1 HG00733.hp1 HG00738.hp2 HG01069.hp2 HG01099.hp1 HG01106.hp2 HG01167.hp2 HG01168.hp1 HG01243.hp1 HG01243.hp2 HG01261.hp1 HG01934.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02132.hp1 HG02132.hp2 HG02300.hp1 HG02451.hp1 HG02523.hp1 HG02622.hp2 HG02647.hp1 HG02683.hp2 HG02738.hp2 HG02895.hp1 HG02896.hp1 HG02965.hp1 HG02965.hp2 HG03209.hp1 HG03492.hp2 HG03540.hp1 HG04199.hp1 NA18747.hp1 NA18906.hp2 NA18942.hp1 NA18945.hp2 NA18947.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp2 NA18962.hp2 NA18963.hp2 NA18973.hp2 NA18984.hp2 NA18993.hp1 NA19004.hp1 NA19030.hp2 NA19060.hp1 NA19065.hp2 NA19067.hp1 NA19079.hp1 NA19079.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20805.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0007 a0012 a0014 a0030 a0031	a0001c0001 a0001c0002 a0001c0008 others(14): Show a0001c0001 a0001c0002 a0001c0008 a0001c0010 a0001c0013 a0001c0014 a0001c0046 a0001c0049 a0002c0004 a0003c0003 a0004c0007 a0004c0016 a0007c0012 a0012c0023 a0014c0025 a0030c0044 a0031c0030	a0001c0001t0001 a0001c0001t0010 a0001c0001t0028 others(21): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0028 a0001c0002t0003 a0001c0002t0016 a0001c0008t0020 a0001c0010t0014 a0001c0010t0047 a0001c0013t0006 a0001c0014t0003 a0001c0046t0027 a0001c0049t0014 a0002c0004t0002 a0003c0003t0004 a0003c0003t0015 a0003c0003t0026 a0003c0003t0042 a0004c0007t0005 a0004c0016t0040 a0007c0012t0002 a0012c0023t0003 a0014c0025t0019 a0030c0044t0005 a0031c0030t0046	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(55): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0146 a0001c0001t0001g0172 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0010g0143 a0001c0001t0028g0315 a0001c0002t0003g0169 a0001c0002t0003g0185 a0001c0002t0003g0186 a0001c0002t0003g0192 a0001c0002t0003g0193 a0001c0002t0003g0197 a0001c0002t0003g0202 a0001c0002t0003g0226 a0001c0002t0003g0251 a0001c0002t0003g0296 a0001c0002t0003g0305 a0001c0002t0003g0310 a0001c0002t0016g0079 a0001c0008t0020g0006 a0001c0010t0014g0268 a0001c0010t0014g0269 a0001c0010t0047g0073 a0001c0013t0006g0196 a0001c0013t0006g0302 a0001c0014t0003g0312 a0001c0046t0027g0063 a0001c0049t0014g0254 a0002c0004t0002g0189 a0002c0004t0002g0211 a0003c0003t0004g0001 a0003c0003t0004g0021 a0003c0003t0004g0022 a0003c0003t0004g0032 a0003c0003t0004g0045 a0003c0003t0004g0050 a0003c0003t0015g0026 a0003c0003t0026g0036 a0003c0003t0042g0054 a0004c0007t0005g0208 a0004c0016t0040g0118 a0007c0012t0002g0278 a0012c0023t0003g0287 a0014c0025t0019g0072 a0030c0044t0005g0206 a0031c0030t0046g0064	60	77	0.7792	24	c.164 others(39): Show c.1640-60_1640-37dupCTTTCTTTCTTTCTTTCTTTCTTT	URB1	ENSG00000142207.7	transcript	ENST00000382751.4	protein_coding	12/38			chr21	TogoVar
USF3_chr3_113643385_113701642	113696643	A A	AGCCCCCC others(17): Show AGCCCCCCTCCCCCCGCCCCTCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0141 a0003c0004t0004g0141	1	340	0.0029	24	c.-40 others(33): Show c.-409_-408insGGGGAGGGGCGGGGGGAGGGGGGC	USF3	ENSG00000176542.10	transcript	ENST00000316407.9	protein_coding		2		chr3	TogoVar
USH2A_chr1_215617891_216428448	216050558	C C	CTCTTTCT others(17): Show CTCTTTCTTTCTCTCTCTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0046 a0046	a0046c0007 a0046c0007	a0046c0007t0001 a0046c0007t0001	a0046c0007t0001g0010 a0046c0007t0001g0010	1	71	0.0141	24	c.605 others(43): Show c.6050-1912_6050-1911insAAGAAAGAGAGAGAGAAAGAAAGA	USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	30/71			chr1	TogoVar
USH2A_chr1_215617891_216428448	216050560	T T	TTTTCTTT others(17): Show TTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0008 a0008	a0008c0037 a0008c0037	a0008c0037t0001 a0008c0037t0001	a0008c0037t0001g0033 a0008c0037t0001g0033	1	38	0.0263	24	c.605 others(43): Show c.6050-1937_6050-1914dupGAAAGAAAGAAAGAAAGAAAGAAA	USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	30/71			chr1	TogoVar
USH2A_chr1_215617891_216428448	216355307	A A	AAAAGAAA others(17): Show AAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA19043.hp1 HG03139.hp2 NA19043.hp1	a0045 a0062 a0045 a0062	a0045c0002 a0062c0042 a0045c0002 a0062c0042	a0045c0002t0002 a0062c0042t0001 a0045c0002t0002 a0062c0042t0001	a0045c0002t0002g0019 a0062c0042t0001g0031 a0045c0002t0002g0019 a0062c0042t0001g0031	2	13	0.1538	24	c.784 others(41): Show c.784+9622_784+9645dupCTTTCTTTCTTTCTTTCTTTCTTT	USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	4/71			chr1	TogoVar
USP10_chr16_84695000_84784922	84702993	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0337 a0003c0008t0001g0337	1	187	0.0053	24	c.21+ others(39): Show c.21+2902_21+2903insAAAAAAAAAAAAAAAAAAAAAAAA	USP10	ENSG00000103194.16	transcript	ENST00000219473.12	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
USP10_chr16_84695000_84784922	84720576	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA18988.hp1 NA18998.hp2 HG00438.hp2 NA18988.hp1 NA18998.hp2	a0002 a0003 a0002 a0003	a0002c0001 a0003c0003 a0002c0001 a0003c0003	a0002c0001t0001 a0003c0003t0001 a0002c0001t0001 a0003c0003t0001	a0002c0001t0001g0069 a0002c0001t0001g0070 a0003c0003t0001g0084 a0002c0001t0001g0069 a0002c0001t0001g0070 a0003c0003t0001g0084	3	50	0.0600	24	c.22- others(41): Show c.22-12836_22-12835insTTTTTTTTTTTTTTTTTTTTTTTT	USP10	ENSG00000103194.16	transcript	ENST00000219473.12	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
USP10_chr16_84695000_84784922	84778091	C C	CTGTGTGT others(17): Show CTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03017.hp1 NA18979.hp1 HG02280.hp2 HG03017.hp1 NA18979.hp1	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0001 a0003c0032 a0004c0014 a0002c0001 a0003c0032 a0004c0014	a0002c0001t0002 a0003c0032t0001 a0004c0014t0002 a0002c0001t0002 a0003c0032t0001 a0004c0014t0002	a0002c0001t0002g0199 a0003c0032t0001g0049 a0004c0014t0002g0208 a0002c0001t0002g0199 a0003c0032t0001g0049 a0004c0014t0002g0208	3	310	0.0097	24	c.221 others(41): Show c.2210-800_2210-777dupGTGTGTGTGTGTGTGTGTGTGTGT	USP10	ENSG00000103194.16	transcript	ENST00000219473.12	protein_coding	13/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
USP12_chr13_27061156_27176811	27148795	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp2 HG02622.hp2 others(9): Show HG02559.hp1 HG02559.hp2 HG02622.hp2 HG02630.hp2 HG02717.hp2 HG03209.hp1 HG03486.hp2 HG04228.hp1 NA18906.hp1 NA19043.hp1 NA19043.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008	a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 others(9): Show a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0154 a0001c0001t0002g0004 a0001c0001t0003g0043 a0001c0001t0007g0024 a0001c0001t0008g0079 a0001c0001t0008g0080 a0001c0001t0008g0140	12	29	0.4138	24	c.48+ others(41): Show c.48+22796_48+22797insGTGTGTGTGTGTGTGTGTGTGTGT	USP12	ENSG00000152484.14	transcript	ENST00000282344.11	protein_coding	1/8			chr13	TogoVar
USP13_chr3_179648040_179794401	179687659	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0209 a0001c0001t0007g0209	1	24	0.0417	24	c.295 others(41): Show c.295-2579_295-2556dupAAAAAAAAAAAAAAAAAAAAAAAA	USP13	ENSG00000058056.10	transcript	ENST00000263966.8	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
USP13_chr3_179648040_179794401	179727983	C C	CAGTAGGG others(17): Show CAGTAGGGGCGGCCGGGCAGAGGCG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03516.hp2 HG03225.hp2 HG03516.hp2	a0001 a0001	a0001c0004 a0001c0006 a0001c0004 a0001c0006	a0001c0004t0034 a0001c0006t0004 a0001c0004t0034 a0001c0006t0004	a0001c0004t0034g0072 a0001c0006t0004g0179 a0001c0004t0034g0072 a0001c0006t0004g0179	2	297	0.0067	24	c.108 others(43): Show c.1089-2206_1089-2205insAGTAGGGGCGGCCGGGCAGAGGCG	USP13	ENSG00000058056.10	transcript	ENST00000263966.8	protein_coding	8/20			chr3	TogoVar
USP13_chr3_179648040_179794401	179750326	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	191	0.0052	24	c.171 others(43): Show c.1710-1940_1710-1939insATATATATATATATATATATATAT	USP13	ENSG00000058056.10	transcript	ENST00000263966.8	protein_coding	13/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
USP13_chr3_179648040_179794401	179750326	G G	GTGTGTAT others(17): Show GTGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA19060.hp2 HG02074.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0251 a0001c0001t0003g0090 a0001c0001t0001g0251 a0001c0001t0003g0090	2	192	0.0104	24	c.171 others(43): Show c.1710-1958_1710-1957insGTGTATATATATATATATATATAT	USP13	ENSG00000058056.10	transcript	ENST00000263966.8	protein_coding	13/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
USP14_chr18_153557_219629	171023	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG03942.hp2 NA18967.hp1 HG02056.hp2 HG03942.hp2 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0025 a0001c0001t0001 a0001c0001t0025	a0001c0001t0001g0091 a0001c0001t0001g0102 a0001c0001t0025g0085 a0001c0001t0001g0091 a0001c0001t0001g0102 a0001c0001t0025g0085	3	273	0.0110	24	c.195 others(41): Show c.195+4205_195+4206insTATATATATATATATATATATATA	USP14	ENSG00000101557.15	transcript	ENST00000261601.8	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr18	TogoVar
USP14_chr18_153557_219629	171025	A A	AAAATATA others(17): Show AAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	169	0.0059	24	c.195 others(41): Show c.195+4207_195+4208insAATATATATATATATATATATATA	USP14	ENSG00000101557.15	transcript	ENST00000261601.8	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr18	TogoVar
USP14_chr18_153557_219629	171025	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	169	0.0059	24	c.195 others(41): Show c.195+4214_195+4237dupTATATATATATATATATATATATA	USP14	ENSG00000101557.15	transcript	ENST00000261601.8	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr18	TogoVar
USP14_chr18_153557_219629	171038	A A	ATAGATAT others(17): Show ATAGATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	378	0.0026	24	c.195 others(41): Show c.195+4221_195+4222insGATATATATATATATATATATCTA	USP14	ENSG00000101557.15	transcript	ENST00000261601.8	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr18	TogoVar
USP20_chr9_129830458_129886828	129846247	A A	ATATATAT others(17): Show ATATATATATATGTATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0011 a0003c0008t0011	a0003c0008t0011g0262 a0003c0008t0011g0262	1	104	0.0096	24	c.-12 others(43): Show c.-128-3565_-128-3564insATATATATATGTATTTTTTTTTTT	USP20	ENSG00000136878.14	transcript	ENST00000372429.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
USP24_chr1_55061359_55220364	55079800	T T	TCTCACAG others(17): Show TCTCACAGAGTACTCACACAGAGTA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0011 a0003c0003t0003g0011	1	196	0.0051	24	c.707 others(41): Show c.7079-142_7079-141insTACTCTGTGTGAGTACTCTGTGAG	USP24	ENSG00000162402.15	transcript	ENST00000294383.7	protein_coding	59/67			chr1	TogoVar
USP25_chr21_15724982_15885064	15730976	G G	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0059 a0001c0002t0002g0059	1	22	0.0455	24	c.45+ others(37): Show c.45+540_45+563dupTTTTTTTTTTTTTTTTTTTTTTTT	USP25	ENSG00000155313.16	transcript	ENST00000400183.7	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr21	TogoVar
USP26_chrX_133018168_133102109	133057866	A A	ATATATAT others(17): Show ATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0228 a0002c0003t0003g0228	1	43	0.0233	24	c.-77 others(43): Show c.-77+25840_-77+25841insAAAAAATATATATATATATATATA	USP26	ENSG00000134588.13	transcript	ENST00000511190.6	protein_coding	5/5			chrX	TogoVar
USP32_chr17_60172327_60397133	60368991	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03579.hp2 HG02647.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0120 a0001c0001t0001g0111 a0001c0001t0001g0120	2	83	0.0241	24	c.58+ others(41): Show c.58+22890_58+22891insAAAAAAAAAAAAAAAAAAAAAAAA	USP32	ENSG00000170832.13	transcript	ENST00000300896.9	protein_coding	1/33			chr17	TogoVar
USP33_chr1_77690987_77764852	77702141	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03209.hp1 HG02451.hp2 HG03209.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0285 a0001c0003t0001g0287 a0001c0003t0001g0285 a0001c0003t0001g0287	2	62	0.0323	24	c.240 others(41): Show c.2407-694_2407-671dupTTTTTTTTTTTTTTTTTTTTTTTT	USP33	ENSG00000077254.14	transcript	ENST00000370794.7	protein_coding	21/23			chr1	TogoVar
USP34_chr2_61182463_61476087	61358193	A A	AAAATAAA others(17): Show AAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02071.hp2 NA18990.hp1 NA18992.hp1 HG02071.hp2 NA18990.hp1 NA18992.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0005 a0001c0003t0001 a0001c0003t0005	a0001c0003t0001g0250 a0001c0003t0001g0252 a0001c0003t0005g0101 a0001c0003t0001g0250 a0001c0003t0001g0252 a0001c0003t0005g0101	3	131	0.0229	24	c.125 others(43): Show c.1252-7524_1252-7501dupATTTATTTATTTATTTATTTATTT	USP34	ENSG00000115464.15	transcript	ENST00000398571.7	protein_coding	10/79			chr2	TogoVar
USP34_chr2_61182463_61476087	61365944	C C	CTATTTAT others(17): Show CTATTTATTTATTTATTTATTTATT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0275 a0001c0003t0001g0275	1	144	0.0069	24	c.125 others(43): Show c.1251+4353_1251+4376dupAATAAATAAATAAATAAATAAATA	USP34	ENSG00000115464.15	transcript	ENST00000398571.7	protein_coding	10/79			chr2	TogoVar
USP34_chr2_61182463_61476087	61437774	A A	AAAATAAA others(17): Show AAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0059 a0001c0002t0002g0059	1	89	0.0112	24	c.44- others(41): Show c.44-16965_44-16942dupATTTATTTATTTATTTATTTATTT	USP34	ENSG00000115464.15	transcript	ENST00000398571.7	protein_coding	1/79			chr2	TogoVar
USP35_chr11_78183919_78220232	78215547	C C	CAAGAACT others(17): Show CAAGAACTCAAGACACAAGACAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0007 a0003c0003t0007	a0003c0003t0007g0076 a0003c0003t0007g0076	1	414	0.0024	24	c.17 others(35): Show c.1734_*1735insAAGAACTCAAGACACAAGACAAGA	USP35	ENSG00000118369.13	transcript	ENST00000529308.6	protein_coding		316		chr11	TogoVar

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