Joint Open Genome and Omics Platform (JoGo)

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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
UNC13C_chr15_53973441_54633605	54339640	G G	GATATATA others(21): Show GATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0011 a0011	a0011c0024 a0011c0024	a0011c0024t0028 a0011c0024t0028	a0011c0024t0028g0017 a0011c0024t0028g0017	1	32	0.0313	28	c.471 others(47): Show c.4713+1175_4713+1176insATATATATATATATATATATATATAT AT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	17/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54455164	C C	CCTCTCTC others(21): Show CCTCTCTCTCTCTCTCTCTCTCTCTCTAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0019 a0001c0003t0001g0019	1	141	0.0071	28	c.493 others(49): Show c.4934-39418_4934-39417insATCTCTCTCTCTCTCTCTCTCTCT CTCT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	19/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54455164	C C	CCTCTCTC others(21): Show CCTCTCTCTCTCTCTCTCTGTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0012 a0002c0015t0012	a0002c0015t0012g0054 a0002c0015t0012g0054	1	141	0.0071	28	c.493 others(49): Show c.4934-39426_4934-39425insGTCTCTCTCTCTCTCTCTCTCTCT CTCT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	19/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54455165	C C	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0003 a0003	a0003c0037 a0003c0037	a0003c0037t0008 a0003c0037t0008	a0003c0037t0008g0094 a0003c0037t0008g0094	1	156	0.0064	28	c.493 others(49): Show c.4934-39416_4934-39415insATCTCTCTCTCTCTCTCTCTCTCT CTCT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	19/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54455205	C C	CTCTCTCT others(21): Show CTCTCTCTCTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0106 a0001c0001t0006g0106	1	54	0.0185	28	c.493 others(49): Show c.4934-39402_4934-39401insCTCTCTCTATATATATATATATAT ATAT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	19/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54455205	C C	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTCTCTCTCTATATA	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18953.hp1 NA18612.hp1 NA18953.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0066 a0001c0005t0003g0068 a0001c0005t0003g0066 a0001c0005t0003g0068	2	55	0.0364	28	c.493 others(49): Show c.4934-39402_4934-39401insCTCTCTCTCTCTCTCTCTCTCTAT ATAT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	19/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC45B_chr17_35142817_35194343	35149372	C C	CACCACCT others(21): Show CACCACCTCCACCCACCCACCCCCTACCA	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0151 a0001c0001t0005g0151	1	432	0.0023	28	c.205 others(43): Show c.205+363_205+364insACCACCTCCACCCACCCACCCCCTACCA	UNC45B	ENSG00000141161.12	transcript	ENST00000394570.7	protein_coding	3/19			chr17	TogoVar
UNC45B_chr17_35142817_35194343	35166086	T T	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02717.hp1 HG01109.hp2 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0262 a0001c0001t0005g0264 a0001c0001t0005g0262 a0001c0001t0005g0264	2	10	0.2000	28	c.115 others(47): Show c.1151+1945_1151+1946insAAAAAAAAAAAAAAAAAAAAAAAAAA AA	UNC45B	ENSG00000141161.12	transcript	ENST00000394570.7	protein_coding	9/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
UNC45B_chr17_35142817_35194343	35175060	G G	GAAGAAAG others(21): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01993.hp1 HG02109.hp1 others(3): Show HG01346.hp1 HG01993.hp1 HG02109.hp1 NA19088.hp1 NA20129.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0002 a0001c0002t0002 a0002c0003t0002 a0001c0001t0002 a0001c0002t0002 a0002c0003t0002	a0001c0001t0002g0064 a0001c0001t0002g0139 a0001c0002t0002g0001 others(2): Show a0001c0001t0002g0064 a0001c0001t0002g0139 a0001c0002t0002g0001 a0002c0003t0002g0011 a0002c0003t0002g0030	6	249	0.0241	28	c.195 others(45): Show c.1958+692_1958+719dupAAGAAAGAAAGAAAGAAAGAAAGAAAGA	UNC45B	ENSG00000141161.12	transcript	ENST00000394570.7	protein_coding	14/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
UNC45B_chr17_35142817_35194343	35175075	G G	GAAAGAAA others(21): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAC	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18947.hp1 NA18950.hp2 others(1): Show NA18940.hp1 NA18947.hp1 NA18950.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0023 a0001c0001t0001g0055 a0001c0001t0001g0056	4	425	0.0094	28	c.195 others(45): Show c.1958+719_1958+720insAAGAAAGAAAGAAACAAAGAAAGAAAGA	UNC45B	ENSG00000141161.12	transcript	ENST00000394570.7	protein_coding	14/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
UNC5A_chr5_176805559_176885898	176805981	A A	AGAAAGAA others(21): Show AGAAAGAAAGAAAGAAAGAAAGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0006	1	128	0.0078	28	c.-47 others(39): Show c.-4770_-4769insGAAAGAAAGAAAGAAAGAAAGAAGGAAG	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding		4577		chr5	TogoVar
UNC5A_chr5_176805559_176885898	176805984	A A	AAGAAAGA others(21): Show AAGAAAGAAAGAAAGAGGGAGGGAGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02723.hp2 HG02818.hp1 HG02615.hp1 HG02723.hp2 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0003 a0001c0005t0002 a0001c0001t0003 a0001c0005t0002	a0001c0001t0003g0250 a0001c0001t0003g0254 a0001c0005t0002g0241 a0001c0001t0003g0250 a0001c0001t0003g0254 a0001c0005t0002g0241	3	260	0.0115	28	c.-47 others(39): Show c.-4767_-4766insAGAAAGAAAGAAAGAGGGAGGGAGGGAG	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding		4574		chr5	TogoVar
UNC5A_chr5_176805559_176885898	176806022	G G	GAAGGAAG others(21): Show GAAGGAAGGAAGGAAGGAGGAAGGAAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0257 a0001c0001t0002g0257	1	68	0.0147	28	c.-47 others(39): Show c.-4729_-4728insAAGGAAGGAAGGAAGGAGGAAGGAAGGA	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding		4536		chr5	TogoVar
UNC5A_chr5_176805559_176885898	176842492	G G	GATATATA others(21): Show GATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03130.hp1 HG02572.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0184 a0001c0001t0002g0231 a0001c0001t0002g0184 a0001c0001t0002g0231	2	202	0.0099	28	c.71- others(45): Show c.71-20114_71-20113insATATATATATATATATATATATATATAT	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
UNC5A_chr5_176805559_176885898	176858772	A A	AAGGAAGG others(21): Show AAGGAAGGAAGGAAGGAAGGCAGGCAGGC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0013 a0001c0001t0005g0013	1	250	0.0040	28	c.71- others(43): Show c.71-3849_71-3848insAAGGAAGGAAGGAAGGCAGGCAGGCAGG	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
UNC5A_chr5_176805559_176885898	176858774	G G	GGAAGGAA others(21): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG02145.hp1 others(5): Show HG01257.hp2 HG01258.hp2 HG02145.hp1 HG02683.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0005t0002 a0001c0001t0001 a0001c0001t0002 a0001c0005t0002	a0001c0001t0001g0086 a0001c0001t0002g0118 a0001c0001t0002g0204 others(5): Show a0001c0001t0001g0086 a0001c0001t0002g0118 a0001c0001t0002g0204 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0248 a0001c0005t0002g0235 a0001c0005t0002g0241	8	81	0.0988	28	c.71- others(43): Show c.71-3849_71-3848insAAGGAAGGAAGGAAGGAAGGAAGGAAAG	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
UNC5A_chr5_176805559_176885898	176858774	G G	GGAAGGAA others(21): Show GGAAGGAAGGAAGGAAGGAAGGCAGGCAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA19085.hp2 HG03471.hp1 NA19085.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0021 a0002c0002t0004g0166 a0002c0002t0004g0021 a0002c0002t0004g0166	2	75	0.0267	28	c.71- others(43): Show c.71-3849_71-3848insAAGGAAGGAAGGAAGGAAGGCAGGCAAG	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
UNC5A_chr5_176805559_176885898	176858774	G G	GGAAGGAA others(21): Show GGAAGGAAGGAAGGCAGGCAGGCAGGCAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0015 a0001c0001t0011g0015	1	74	0.0135	28	c.71- others(43): Show c.71-3849_71-3848insAAGGAAGGAAGGCAGGCAGGCAGGCAAG	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
UNC5B_chr10_71207570_71307864	71227687	C C	CACATATA others(21): Show CACATATATACATATATATACACATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02622.hp1 HG02647.hp2 others(14): Show HG01884.hp1 HG02622.hp1 HG02647.hp2 HG02723.hp2 HG02818.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02970.hp1 HG03098.hp1 HG03139.hp2 HG03516.hp1 HG06807.hp1 NA18522.hp2 NA19043.hp1 NA20129.hp1 NA20129.hp2	a0001 a0003 a0017 others(2): Show a0001 a0003 a0017 a0021 a0026	a0001c0002 a0001c0003 a0001c0006 others(5): Show a0001c0002 a0001c0003 a0001c0006 a0001c0010 a0003c0007 a0017c0029 a0021c0018 a0026c0020	a0001c0002t0072 a0001c0003t0007 a0001c0003t0011 others(11): Show a0001c0002t0072 a0001c0003t0007 a0001c0003t0011 a0001c0003t0024 a0001c0003t0044 a0001c0003t0075 a0001c0006t0007 a0001c0010t0035 a0001c0010t0076 a0003c0007t0010 a0003c0007t0012 a0017c0029t0018 a0021c0018t0020 a0026c0020t0020	a0001c0002t0072g0117 a0001c0003t0007g0105 a0001c0003t0007g0357 others(14): Show a0001c0002t0072g0117 a0001c0003t0007g0105 a0001c0003t0007g0357 a0001c0003t0011g0133 a0001c0003t0024g0064 a0001c0003t0044g0201 a0001c0003t0075g0327 a0001c0006t0007g0335 a0001c0010t0035g0008 a0001c0010t0076g0008 a0003c0007t0010g0023 a0003c0007t0012g0066 a0003c0007t0012g0113 a0003c0007t0012g0116 a0017c0029t0018g0053 a0021c0018t0020g0353 a0026c0020t0020g0337	17	363	0.0468	28	c.79+ others(45): Show c.79+14632_79+14633insCATATATATACACATATATACATATATA	UNC5B	ENSG00000107731.12	transcript	ENST00000335350.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
UNC5C_chr4_95157504_95553973	95256699	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0016 a0001c0004t0016	a0001c0004t0016g0058 a0001c0004t0016g0058	1	143	0.0070	28	c.595 others(45): Show c.595-6033_595-6032insATATATATATATATATATATATATATAT	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	4/15			chr4	TogoVar
UNC5C_chr4_95157504_95553973	95394651	C C	CTGTGTGT others(21): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0054 a0001c0005t0004g0054	1	105	0.0095	28	c.125 others(47): Show c.125-59021_125-59020insCACACACACACACACACACACACACA CA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	1/15			chr4	TogoVar
UNC5C_chr4_95157504_95553973	95424518	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0031 a0001c0003t0001g0031	1	71	0.0141	28	c.125 others(47): Show c.125-88888_125-88887insAAAAAAAAAAAAAAAAAAAAAAAAAA AA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	1/15			chr4	TogoVar
UNC5D_chr8_35230475_35801540	35487593	A A	ACACACAC others(21): Show ACACACACACACACACACACACACACCCC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0056 a0001c0003t0011g0056	1	58	0.0172	28	c.104 others(47): Show c.104-61698_104-61697insACACACACACACACACACACACACCC CC	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC5D_chr8_35230475_35801540	35657080	G G	GTGTATAT others(21): Show GTGTATATATATATATATATATATGTATA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0021 a0001c0002t0001g0021	1	37	0.0270	28	c.571 others(47): Show c.571-26466_571-26465insGTATATATATATATATATATATGTAT AT	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC79_chr14_93425939_93712876	93695890	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0023 a0001c0002t0001g0023	1	61	0.0164	28	c.788 others(47): Show c.7881+1498_7881+1499insAAAAAAAAAAAAAAAAAAAAAAAAAA AA	UNC79	ENSG00000133958.14	transcript	ENST00000695012.1	protein_coding	50/51		INFO_REALIGN_3_PRIME	chr14	TogoVar
UNC80_chr2_209766832_210004296	209844451	T T	TTTTCTTT others(21): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01358.hp2 HG01975.hp1 HG01069.hp1 HG01358.hp2 HG01975.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0011 a0001c0001 a0001c0002 a0002c0011	a0001c0001t0002 a0001c0002t0002 a0002c0011t0001 a0001c0001t0002 a0001c0002t0002 a0002c0011t0001	a0001c0001t0002g0061 a0001c0002t0002g0052 a0002c0011t0001g0010 a0001c0001t0002g0061 a0001c0002t0002g0052 a0002c0011t0001g0010	3	111	0.0270	28	c.345 others(47): Show c.3454+2006_3454+2033dupTTTCTTTCTTTCTTTCTTTCTTTCTT TC	UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	21/64		INFO_REALIGN_3_PRIME	chr2	TogoVar
UPF1_chr19_18826959_18873230	18829613	A A	ATATGTAT others(21): Show ATATGTATATATATATACATATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	374	0.0027	28	c.-25 others(39): Show c.-2597_-2596insTATGTATATATATATACATATATATATG	UPF1	ENSG00000005007.14	transcript	ENST00000262803.10	protein_coding		2345		chr19	TogoVar
UPK1A_chr19_35661517_35683481	35682244	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG01257.hp2 others(13): Show HG00423.hp2 HG00438.hp2 HG01257.hp2 HG02074.hp2 HG02683.hp2 HG03710.hp2 HG04228.hp1 NA18940.hp2 NA18941.hp1 NA18950.hp1 NA18964.hp1 NA18968.hp2 NA18988.hp2 NA19000.hp2 NA19065.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0016 a0001c0001t0002g0017 others(6): Show a0001c0001t0002g0002 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0029 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0207 a0001c0001t0002g0210 a0001c0001t0002g0224	16	176	0.0909	28	c.42 others(39): Show c.4225_*4226insATATATATATATATATATATATATATAT	UPK1A	ENSG00000105668.8	transcript	ENST00000222275.3	protein_coding		3764		chr19	TogoVar
UPK1A_chr19_35661517_35683481	35682268	T T	TATATATA others(21): Show TATATATATATATATATATATATATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	413	0.0024	28	c.42 others(39): Show c.4249_*4250insATATATATATATATATATATATATATAA	UPK1A	ENSG00000105668.8	transcript	ENST00000222275.3	protein_coding		3788		chr19	TogoVar
UPK3A_chr22_45279949_45300874	45282183	T T	TAGAAAGA others(21): Show TAGAAAGAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 NA18946.hp1 NA19070.hp2 HG00621.hp2 NA18946.hp1 NA19070.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0006 a0001c0003t0001g0076 a0001c0003t0001g0006 a0001c0003t0001g0076	3	236	0.0127	28	c.-28 others(39): Show c.-2831_-2830insAGAAAGAAAGAAAGAAAGAAAGAAAGAA	UPK3A	ENSG00000100373.10	transcript	ENST00000216211.9	protein_coding		2765		chr22	TogoVar
UPK3BL1_chr7_102632025_102647791	102646920	A A	AGAGAAAG others(21): Show AGAGAAAGGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0010 a0008c0009t0010	a0008c0009t0010g0024 a0008c0009t0010g0024	1	111	0.0090	28	c.-41 others(39): Show c.-4180_-4179insCTTTCTTTCTTTCTTTCTTTCCTTTCTC	UPK3BL1	ENSG00000267368.1	transcript	ENST00000340457.8	protein_coding		4130		chr7	TogoVar
UPK3BL2_chr7_102532919_102548696	102547832	G G	GGAAAGAA others(21): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp1 HG01934.hp1 HG02004.hp1 others(4): Show HG01928.hp1 HG01934.hp1 HG02004.hp1 HG02165.hp1 NA18940.hp1 NA19004.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0001 a0001c0001t0001g0002	7	36	0.1944	28	c.-41 others(39): Show c.-4197_-4196insTTTCTTTCTTTCTTTCTTTCTTTCTTTC	UPK3BL2	ENSG00000284981.2	transcript	ENST00000644544.2	protein_coding		4137		chr7	TogoVar
UQCC1_chr20_35297578_35416973	35338892	A A	AAAAAATA others(21): Show AAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0185 a0001c0001t0005g0185	1	25	0.0400	28	c.573 others(45): Show c.573+8271_573+8272insATATATATATATATATATATATATTTTT	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding	7/9			chr20	TogoVar
UQCC1_chr20_35297578_35416973	35338913	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	109	0.0092	28	c.573 others(45): Show c.573+8250_573+8251insCATATATATATATATATATATATATATA	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding	7/9			chr20	TogoVar
UQCC1_chr20_35297578_35416973	35410704	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0091 a0002c0002t0001g0091	1	57	0.0175	28	c.24+ others(43): Show c.24+1235_24+1236insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding	1/9			chr20	TogoVar
UQCC1_chr20_35297578_35416973	35412617	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0052 a0002c0002t0001g0052	1	65	0.0154	28	c.-65 others(37): Show c.-655_-654insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding		645		chr20	TogoVar
UQCC5_chr3_52531605_52546890	52542619	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG02074.hp1 HG01123.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	7	0.2857	28	c.21 others(39): Show c.2134_*2135insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	UQCC5	ENSG00000168273.8	transcript	ENST00000477703.6	protein_coding		730		chr3	TogoVar
UQCR10_chr22_29762369_29775413	29763292	C C	CAATAAAT others(21): Show CAATAAATAAATAAATAAATAAATAAATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01167.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	2	166	0.0120	28	c.-41 others(39): Show c.-4107_-4106insAATAAATAAATAAATAAATAAATAAATA	UQCR10	ENSG00000184076.13	transcript	ENST00000330029.6	protein_coding		4076		chr22	TogoVar
URB1_chr21_32306018_32398012	32361159	A A	AAAAGAAA others(21): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00741.hp2 HG01081.hp1 others(25): Show HG00323.hp1 HG00741.hp2 HG01081.hp1 HG01106.hp1 HG01109.hp2 HG01192.hp2 HG01884.hp1 HG02004.hp1 HG02155.hp2 HG02293.hp1 HG02572.hp1 HG02572.hp2 HG02698.hp2 HG02717.hp2 HG03130.hp2 HG03209.hp2 HG03540.hp2 HG03688.hp2 HG03942.hp1 HG04184.hp1 HG06807.hp2 NA18906.hp1 NA18965.hp1 NA18980.hp1 NA18993.hp2 NA19043.hp1 NA19065.hp1 NA19088.hp2	a0001 a0003 a0004 others(4): Show a0001 a0003 a0004 a0007 a0014 a0015 a0028	a0001c0001 a0001c0002 a0001c0010 others(9): Show a0001c0001 a0001c0002 a0001c0010 a0001c0013 a0003c0003 a0003c0015 a0004c0007 a0004c0045 a0007c0012 a0014c0026 a0015c0034 a0028c0060	a0001c0001t0001 a0001c0001t0010 a0001c0002t0003 others(13): Show a0001c0001t0001 a0001c0001t0010 a0001c0002t0003 a0001c0002t0008 a0001c0002t0041 a0001c0010t0014 a0001c0013t0006 a0003c0003t0004 a0003c0003t0009 a0003c0015t0045 a0004c0007t0005 a0004c0045t0019 a0007c0012t0002 a0014c0026t0019 a0015c0034t0001 a0028c0060t0033	a0001c0001t0001g0007 a0001c0001t0001g0099 a0001c0001t0001g0106 others(24): Show a0001c0001t0001g0007 a0001c0001t0001g0099 a0001c0001t0001g0106 a0001c0001t0001g0117 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0010g0128 a0001c0002t0003g0014 a0001c0002t0003g0191 a0001c0002t0003g0201 a0001c0002t0003g0218 a0001c0002t0003g0219 a0001c0002t0003g0229 a0001c0002t0008g0216 a0001c0002t0041g0173 a0001c0010t0014g0270 a0001c0013t0006g0303 a0003c0003t0004g0023 a0003c0003t0004g0061 a0003c0003t0009g0035 a0003c0015t0045g0058 a0004c0007t0005g0180 a0004c0045t0019g0087 a0007c0012t0002g0277 a0014c0026t0019g0071 a0015c0034t0001g0102 a0028c0060t0033g0019	28	45	0.6222	28	c.164 others(43): Show c.1640-64_1640-37dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT	URB1	ENSG00000142207.7	transcript	ENST00000382751.4	protein_coding	12/38			chr21	TogoVar
USF3_chr3_113643385_113701642	113683243	C C	CTCTAGTT others(21): Show CTCTAGTTTTTAATCTATAAAAACTATTA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00408.hp1 others(49): Show HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00438.hp2 HG00609.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00735.hp2 HG00741.hp2 HG01071.hp1 HG01074.hp2 HG01123.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01496.hp1 HG01934.hp2 HG02080.hp2 HG02129.hp2 HG02148.hp1 HG02523.hp2 HG02735.hp1 HG02976.hp1 HG03239.hp2 HG03516.hp1 HG03654.hp1 HG03927.hp1 HG03942.hp1 HG04199.hp2 HG04204.hp1 NA18942.hp1 NA18944.hp2 NA18949.hp2 NA18951.hp1 NA18955.hp2 NA18957.hp2 NA18968.hp1 NA18977.hp1 NA18980.hp1 NA18983.hp2 NA18999.hp1 NA19000.hp1 NA19068.hp1 NA19072.hp2 NA19074.hp1 NA19086.hp2 NA19091.hp1 NA19091.hp2 NA20752.hp1 NA20905.hp1 NA20905.hp2	a0001 a0006 a0007 others(3): Show a0001 a0006 a0007 a0018 a0019 a0020	a0001c0001 a0001c0002 a0001c0014 others(6): Show a0001c0001 a0001c0002 a0001c0014 a0001c0016 a0006c0009 a0007c0010 a0018c0025 a0019c0019 a0020c0020	a0001c0001t0003 a0001c0001t0011 a0001c0001t0013 others(15): Show a0001c0001t0003 a0001c0001t0011 a0001c0001t0013 a0001c0001t0029 a0001c0001t0059 a0001c0001t0061 a0001c0002t0002 a0001c0002t0056 a0001c0014t0006 a0001c0014t0064 a0001c0016t0025 a0006c0009t0028 a0006c0009t0048 a0006c0009t0060 a0007c0010t0081 a0018c0025t0003 a0019c0019t0003 a0020c0020t0053	a0001c0001t0003g0007 a0001c0001t0003g0011 a0001c0001t0003g0012 others(42): Show a0001c0001t0003g0007 a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0020 a0001c0001t0003g0027 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0153 a0001c0001t0003g0197 a0001c0001t0003g0218 a0001c0001t0003g0221 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0234 a0001c0001t0003g0236 a0001c0001t0003g0284 a0001c0001t0011g0061 a0001c0001t0011g0253 a0001c0001t0011g0273 a0001c0001t0011g0281 a0001c0001t0013g0154 a0001c0001t0013g0220 a0001c0001t0029g0217 a0001c0001t0059g0223 a0001c0001t0061g0246 a0001c0002t0002g0163 a0001c0002t0002g0187 a0001c0002t0002g0188 a0001c0002t0056g0062 a0001c0014t0006g0277 a0001c0014t0064g0278 a0001c0016t0025g0060 a0001c0016t0025g0274 a0006c0009t0028g0219 a0006c0009t0028g0226 a0006c0009t0048g0225 a0006c0009t0060g0198 a0007c0010t0081g0224 a0018c0025t0003g0222 a0019c0019t0003g0240 a0020c0020t0053g0147	52	225	0.2311	28	c.-13 others(47): Show c.-134-5874_-134-5847dupTAATAGTTTTTATAGATTAAAAACTA GA	USF3	ENSG00000176542.10	transcript	ENST00000316407.9	protein_coding	1/6			chr3	TogoVar
USH2A_chr1_215617891_216428448	215627421	C C	CTTCCTTC others(21): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCT	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA18522.hp1 NA19043.hp2 HG03540.hp1 NA18522.hp1 NA19043.hp2	a0056 a0060 a0063 a0056 a0060 a0063	a0056c0034 a0060c0014 a0063c0052 a0056c0034 a0060c0014 a0063c0052	a0056c0034t0003 a0060c0014t0003 a0063c0052t0003 a0056c0034t0003 a0060c0014t0003 a0063c0052t0003	a0056c0034t0003g0045 a0060c0014t0003g0006 a0063c0052t0003g0072 a0056c0034t0003g0045 a0060c0014t0003g0006 a0063c0052t0003g0072	3	68	0.0441	28	c.155 others(49): Show c.15519+1392_15519+1393insAGAAGGAAGGAAGGAAGGAAGGAA GGAA	USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	71/71			chr1	TogoVar
USH2A_chr1_215617891_216428448	216050560	T T	TTTTCTTT others(21): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0044 a0044	a0044c0016 a0044c0016	a0044c0016t0001 a0044c0016t0001	a0044c0016t0001g0009 a0044c0016t0001g0009	1	38	0.0263	28	c.605 others(47): Show c.6050-1941_6050-1914dupGAAAGAAAGAAAGAAAGAAAGAAAGA AA	USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	30/71			chr1	TogoVar
USH2A_chr1_215617891_216428448	216355307	A A	AAAAGAAA others(21): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0070 a0070	a0070c0068 a0070c0068	a0070c0068t0001 a0070c0068t0001	a0070c0068t0001g0053 a0070c0068t0001g0053	1	12	0.0833	28	c.784 others(45): Show c.784+9618_784+9645dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT	USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	4/71			chr1	TogoVar
USP12_chr13_27061156_27176811	27148795	T T	TACACACA others(21): Show TACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01943.hp2 HG02602.hp2 others(3): Show HG00738.hp2 HG01943.hp2 HG02602.hp2 HG03927.hp1 NA18522.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0001 a0001c0001t0003 a0001c0001t0007	a0001c0001t0001g0020 a0001c0001t0003g0041 a0001c0001t0003g0042 others(3): Show a0001c0001t0001g0020 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0007g0025	6	23	0.2609	28	c.48+ others(45): Show c.48+22796_48+22797insGTGTGTGTGTGTGTGTGTGTGTGTGTGT	USP12	ENSG00000152484.14	transcript	ENST00000282344.11	protein_coding	1/8			chr13	TogoVar
USP13_chr3_179648040_179794401	179687659	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02280.hp2 HG03490.hp1 others(1): Show HG00323.hp2 HG02280.hp2 HG03490.hp1 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009	a0001c0001t0001g0207 a0001c0001t0006g0081 a0001c0001t0007g0099 others(1): Show a0001c0001t0001g0207 a0001c0001t0006g0081 a0001c0001t0007g0099 a0001c0001t0009g0103	4	27	0.1481	28	c.295 others(45): Show c.295-2556_295-2555insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	USP13	ENSG00000058056.10	transcript	ENST00000263966.8	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
USP13_chr3_179648040_179794401	179750326	G G	GTGTGTAT others(21): Show GTGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01257.hp1 HG01258.hp1 others(4): Show HG01255.hp1 HG01257.hp1 HG01258.hp1 NA18959.hp1 NA18967.hp2 NA18977.hp1 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0003 a0001c0001t0003 a0001c0002t0003	a0001c0001t0003g0022 a0001c0001t0003g0028 a0001c0001t0003g0042 others(4): Show a0001c0001t0003g0022 a0001c0001t0003g0028 a0001c0001t0003g0042 a0001c0001t0003g0047 a0001c0001t0003g0061 a0001c0002t0003g0123 a0001c0002t0003g0148	7	197	0.0355	28	c.171 others(47): Show c.1710-1958_1710-1957insGTGTATATATATATATATATATATAT AT	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(21): Show AATATATATATATATATAGATAGATATAT	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	271	0.0037	28	c.195 others(45): Show c.195+4205_195+4206insTATATATATATATATAGATAGATATATA	USP14	ENSG00000101557.15	transcript	ENST00000261601.8	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr18	TogoVar
USP14_chr18_153557_219629	171023	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18956.hp1 NA18945.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	2	272	0.0074	28	c.195 others(45): Show c.195+4205_195+4206insTATATATATATATATATATATATATATA	USP14	ENSG00000101557.15	transcript	ENST00000261601.8	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr18	TogoVar
USP14_chr18_153557_219629	171025	A A	AAAAAATA others(21): Show AAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0011 a0001c0001t0003g0011	1	169	0.0059	28	c.195 others(45): Show c.195+4207_195+4208insAAAATATATATATATATATATATATATA	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(21): Show AAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	169	0.0059	28	c.195 others(45): Show c.195+4207_195+4208insAATATATATATATATATATATATATATA	USP14	ENSG00000101557.15	transcript	ENST00000261601.8	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr18	TogoVar

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