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
USP6NL_chr10_11455510_11616650	11555433	A A	AAAAAAAA others(4): Show AAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0204 a0001c0002t0001g0204	1	236	0.0042	11	c.5-2 others(26): Show c.5-27867_5-27866insATTTTTTTTTT	USP6NL	ENSG00000148429.15	transcript	ENST00000609104.6	protein_coding	2/14			chr10	TogoVar
USP6NL_chr10_11455510_11616650	11555433	A A	AAAAAAAA others(4): Show AAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02257.hp1 HG01891.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0195 a0001c0002t0001g0197 a0001c0002t0001g0195 a0001c0002t0001g0197	2	237	0.0084	11	c.5-2 others(26): Show c.5-27867_5-27866insATATTTTTTTT	USP6NL	ENSG00000148429.15	transcript	ENST00000609104.6	protein_coding	2/14			chr10	TogoVar
USP6NL_chr10_11455510_11616650	11555433	A A	AAAAAAAT others(4): Show AAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA19240.hp2 NA20805.hp2 HG03130.hp2 NA19240.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0273 a0001c0002t0001g0196 a0001c0002t0001g0385 a0001c0001t0003g0273 a0001c0002t0001g0196 a0001c0002t0001g0385	3	238	0.0126	11	c.5-2 others(26): Show c.5-27867_5-27866insATATATTTTTT	USP6NL	ENSG00000148429.15	transcript	ENST00000609104.6	protein_coding	2/14			chr10	TogoVar
USP7_chr16_8887097_8968906	8897714	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0319 a0001c0001t0003g0319	1	335	0.0030	11	c.271 others(28): Show c.2719-616_2719-615insATATATATATA	USP7	ENSG00000187555.17	transcript	ENST00000344836.9	protein_coding	25/30			chr16	TogoVar
USP7_chr16_8887097_8968906	8897722	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA19043.hp2 HG02132.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0283 a0001c0001t0001g0214 a0001c0001t0001g0283	2	189	0.0106	11	c.271 others(28): Show c.2719-624_2719-623insATATATATATA	USP7	ENSG00000187555.17	transcript	ENST00000344836.9	protein_coding	25/30			chr16	TogoVar
USP7_chr16_8887097_8968906	8897726	A A	AAAAAAAT others(4): Show AAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp2 HG00639.hp2 others(3): Show HG00280.hp2 HG00438.hp2 HG00639.hp2 HG01496.hp2 NA18906.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0001t0001 a0001c0001t0004 a0001c0001t0010	a0001c0001t0001g0163 a0001c0001t0001g0193 a0001c0001t0001g0239 others(3): Show a0001c0001t0001g0163 a0001c0001t0001g0193 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0004g0232 a0001c0001t0010g0284	6	32	0.1875	11	c.271 others(28): Show c.2719-628_2719-627insATATATTTTTT	USP7	ENSG00000187555.17	transcript	ENST00000344836.9	protein_coding	25/30			chr16	TogoVar
USP7_chr16_8887097_8968906	8897726	A A	AAAAATAT others(4): Show AAAAATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01106.hp2 HG01433.hp1 others(12): Show HG00609.hp1 HG01106.hp2 HG01433.hp1 HG02080.hp2 HG02135.hp2 HG02630.hp2 HG03688.hp1 HG03710.hp1 HG03834.hp1 HG04228.hp1 NA18967.hp2 NA18968.hp2 NA18971.hp2 NA19082.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0100 others(12): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0100 a0001c0001t0001g0152 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0236 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0263 a0001c0001t0001g0266 a0001c0001t0001g0299 a0001c0001t0004g0275	15	41	0.3659	11	c.271 others(28): Show c.2719-628_2719-627insATATATATTTT	USP7	ENSG00000187555.17	transcript	ENST00000344836.9	protein_coding	25/30			chr16	TogoVar
USP7_chr16_8887097_8968906	8897726	A A	AAATATAT others(4): Show AAATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02056.hp1 HG02129.hp2 others(5): Show HG01081.hp1 HG02056.hp1 HG02129.hp2 HG03654.hp1 HG03704.hp2 NA18952.hp2 NA19001.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0001 a0001c0001t0001g0078 a0001c0001t0001g0121 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0078 a0001c0001t0001g0121 a0001c0001t0001g0139 a0001c0001t0001g0180 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0015g0055	8	34	0.2353	11	c.271 others(28): Show c.2719-628_2719-627insATATATATATT	USP7	ENSG00000187555.17	transcript	ENST00000344836.9	protein_coding	25/30			chr16	TogoVar
USP8_chr15_50419405_50519421	50445545	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02895.hp1 HG02897.hp2 others(5): Show HG00639.hp1 HG02895.hp1 HG02897.hp2 HG03453.hp2 HG03491.hp1 HG03834.hp1 NA18959.hp1 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0009 a0001c0001t0073 others(5): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0073 a0001c0001t0076 a0001c0001t0085 a0001c0001t0102 a0001c0002t0018 a0001c0002t0195	a0001c0001t0001g0346 a0001c0001t0009g0147 a0001c0001t0073g0353 others(5): Show a0001c0001t0001g0346 a0001c0001t0009g0147 a0001c0001t0073g0353 a0001c0001t0076g0344 a0001c0001t0085g0340 a0001c0001t0102g0345 a0001c0002t0018g0048 a0001c0002t0195g0047	8	16	0.5000	11	c.250 others(28): Show c.250-3841_250-3831dupAAAAAAAAAAA	USP8	ENSG00000138592.14	transcript	ENST00000307179.9	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr15	TogoVar
USP8_chr15_50419405_50519421	50485550	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG03831.hp2 HG01496.hp1 HG03831.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0012 a0003c0004t0122 a0003c0004t0012 a0003c0004t0122	a0003c0004t0012g0249 a0003c0004t0122g0242 a0003c0004t0012g0249 a0003c0004t0122g0242	2	52	0.0385	11	c.189 others(30): Show c.1890+1212_1890+1222dupTTTTTTTTTTT	USP8	ENSG00000138592.14	transcript	ENST00000307179.9	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr15	TogoVar
USP8_chr15_50419405_50519421	50506957	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0190 a0001c0002t0190	a0001c0002t0190g0025 a0001c0002t0190g0025	1	23	0.0435	11	c.78 others(22): Show c.7892_*7902dupAAAAAAAAAAA	USP8	ENSG00000138592.14	transcript	ENST00000307179.9	protein_coding	20/20	7903	INFO_REALIGN_3_PRIME	chr15	TogoVar
USP9X_chrX_41080445_41241579	41099096	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01175.hp2 HG01358.hp1 others(13): Show HG00323.hp1 HG01175.hp2 HG01358.hp1 HG01934.hp1 HG01981.hp2 HG02293.hp1 HG02486.hp1 HG02698.hp1 HG02738.hp1 HG03688.hp1 NA18747.hp1 NA18950.hp2 NA18980.hp2 NA19011.hp2 NA19082.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0003g0256 others(13): Show a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0003g0256 a0001c0001t0003g0257 a0001c0001t0003g0265 a0001c0001t0003g0266 a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0001t0003g0284 a0001c0001t0003g0287 a0001c0001t0004g0248 a0001c0001t0004g0263 a0001c0001t0004g0268 a0001c0001t0004g0270 a0001c0001t0004g0272 a0001c0001t0004g0278	16	97	0.1649	11	c.-15 others(32): Show c.-159+13003_-159+13013dupTTTTTTTTTTT	USP9X	ENSG00000124486.15	transcript	ENST00000378308.7	protein_coding	1/44		INFO_REALIGN_3_PRIME	chrX	TogoVar
USP9X_chrX_41080445_41241579	41161329	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0216 a0001c0006t0002g0216	1	85	0.0118	11	c.189 others(30): Show c.1898-1444_1898-1434dupTTTTTTTTTTT	USP9X	ENSG00000124486.15	transcript	ENST00000378308.7	protein_coding	14/44		INFO_REALIGN_3_PRIME	chrX	TogoVar
USP9X_chrX_41080445_41241579	41161635	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02155.hp2 NA18950.hp2 others(5): Show HG00597.hp2 HG02155.hp2 NA18950.hp2 NA18959.hp1 NA18965.hp1 NA18980.hp2 NA19007.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0135 a0001c0001t0001g0155 a0001c0001t0003g0257 others(5): Show a0001c0001t0001g0135 a0001c0001t0001g0155 a0001c0001t0003g0257 a0001c0001t0003g0280 a0001c0001t0003g0282 a0001c0001t0003g0285 a0001c0001t0003g0292 a0001c0001t0004g0250	8	102	0.0784	11	c.189 others(30): Show c.1898-1142_1898-1132dupTTTTTTTTTTT	USP9X	ENSG00000124486.15	transcript	ENST00000378308.7	protein_coding	14/44		INFO_REALIGN_3_PRIME	chrX	TogoVar
UST_chr6_148742030_149081990	148871117	C C	CTCTCTCT others(4): Show CTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	9	0.1111	11	c.248 others(30): Show c.248-15869_248-15868insTCTCTCTCTCT	UST	ENSG00000111962.8	transcript	ENST00000367463.5	protein_coding	1/7			chr6	TogoVar
UST_chr6_148742030_149081990	148871146	C C	CTCTCTCT others(4): Show CTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	205	0.0049	11	c.248 others(30): Show c.248-15840_248-15839insTCTCTCTCTCT	UST	ENSG00000111962.8	transcript	ENST00000367463.5	protein_coding	1/7			chr6	TogoVar
UST_chr6_148742030_149081990	148946510	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01255.hp1 HG02886.hp2 others(4): Show HG01175.hp2 HG01255.hp1 HG02886.hp2 HG03710.hp2 HG04115.hp1 NA18974.hp1 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0004t0002	a0001c0001t0001g0006 a0001c0001t0001g0097 a0001c0001t0002g0106 others(4): Show a0001c0001t0001g0006 a0001c0001t0001g0097 a0001c0001t0002g0106 a0001c0001t0002g0138 a0001c0001t0006g0130 a0001c0001t0008g0034 a0001c0004t0002g0133	7	92	0.0761	11	c.447 others(28): Show c.447+5085_447+5095dupAAAAAAAAAAA	UST	ENSG00000111962.8	transcript	ENST00000367463.5	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
UST_chr6_148742030_149081990	149010895	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01981.hp2 HG03688.hp1 HG01081.hp2 HG01981.hp2 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0001 a0001c0001t0004 a0001c0001t0006	a0001c0001t0001g0162 a0001c0001t0004g0027 a0001c0001t0006g0068 a0001c0001t0001g0162 a0001c0001t0004g0027 a0001c0001t0006g0068	3	193	0.0155	11	c.682 others(28): Show c.682-8230_682-8220dupAAAAAAAAAAA	UST	ENSG00000111962.8	transcript	ENST00000367463.5	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
UST_chr6_148742030_149081990	149010913	A A	AAAAAAAA others(4): Show AAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp2 HG01069.hp2 others(29): Show HG00408.hp2 HG00544.hp2 HG01069.hp2 HG01070.hp2 HG01261.hp2 HG01346.hp1 HG02040.hp1 HG02165.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02622.hp1 HG02622.hp2 HG02738.hp2 HG02896.hp1 HG02897.hp1 HG02970.hp1 HG03491.hp1 HG03491.hp2 HG03654.hp1 HG03710.hp2 NA18948.hp2 NA18957.hp2 NA18960.hp2 NA18964.hp2 NA18974.hp1 NA19002.hp2 NA19078.hp2 NA19083.hp1 NA19086.hp2 NA19087.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0017 a0001c0001t0026 a0002c0002t0003	a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0050 others(29): Show a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0072 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0122 a0001c0001t0001g0181 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0002g0024 a0001c0001t0002g0078 a0001c0001t0002g0106 a0001c0001t0002g0112 a0001c0001t0002g0134 a0001c0001t0002g0138 a0001c0001t0003g0019 a0001c0001t0003g0048 a0001c0001t0003g0161 a0001c0001t0003g0195 a0001c0001t0004g0110 a0001c0001t0004g0157 a0001c0001t0006g0124 a0001c0001t0009g0045 a0001c0001t0010g0011 a0001c0001t0017g0159 a0001c0001t0026g0036 a0002c0002t0003g0145	32	63	0.5079	11	c.682 others(28): Show c.682-8220_682-8219insAAAACAAAAAA	UST	ENSG00000111962.8	transcript	ENST00000367463.5	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
UTP11_chr1_38007734_38029820	38012048	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	143	0.0070	11	c.-75 others(20): Show c.-755_-754insTTTTTTTTTTT	UTP11	ENSG00000183520.12	transcript	ENST00000373014.5	protein_coding		685		chr1	TogoVar
UTP18_chr17_51255546_51302933	51281164	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0011 a0001c0006t0001g0011	1	27	0.0370	11	c.120 others(28): Show c.1204+686_1204+687insATATATATATT	UTP18	ENSG00000011260.14	transcript	ENST00000225298.12	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
UTP20_chr12_101275105_101391618	101310577	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02015.hp2 HG02258.hp2 others(10): Show HG00642.hp1 HG02015.hp2 HG02258.hp2 HG02559.hp2 NA18946.hp1 NA18966.hp1 NA18999.hp1 NA19007.hp1 NA19009.hp2 NA19077.hp2 NA19087.hp2 NA19240.hp1 NA20752.hp2	a0001 a0003 a0008 others(1): Show a0001 a0003 a0008 a0012	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0003c0006 a0003c0026 a0008c0010 a0012c0015	a0001c0001t0002 a0001c0002t0001 a0001c0004t0001 others(5): Show a0001c0001t0002 a0001c0002t0001 a0001c0004t0001 a0003c0006t0001 a0003c0006t0003 a0003c0026t0001 a0008c0010t0001 a0012c0015t0002	a0001c0001t0002g0295 a0001c0002t0001g0241 a0001c0004t0001g0253 others(9): Show a0001c0001t0002g0295 a0001c0002t0001g0241 a0001c0004t0001g0253 a0003c0006t0001g0001 a0003c0006t0001g0041 a0003c0006t0001g0154 a0003c0006t0001g0159 a0003c0006t0001g0161 a0003c0006t0003g0157 a0003c0026t0001g0158 a0008c0010t0001g0276 a0012c0015t0002g0140	13	101	0.1287	11	c.223 others(28): Show c.2231+749_2231+759dupAAAAAAAAAAA	UTP20	ENSG00000120800.5	transcript	ENST00000261637.5	protein_coding	19/61		INFO_REALIGN_3_PRIME	chr12	TogoVar
UTP4_chr16_69127649_69174021	69158161	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03492.hp2 NA19043.hp2 HG03017.hp1 HG03492.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0050 a0001c0001t0001g0087 a0001c0001t0001g0088	3	77	0.0390	11	c.144 others(28): Show c.1444+941_1444+951dupTTTTTTTTTTT	UTP4	ENSG00000141076.18	transcript	ENST00000314423.12	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
UTP4_chr16_69127649_69174021	69164586	T T	TATATATA others(4): Show TATATATATATA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	101	0.0099	11	c.164 others(28): Show c.1648-755_1648-754insATATATATATA	UTP4	ENSG00000141076.18	transcript	ENST00000314423.12	protein_coding	14/16			chr16	TogoVar
UTRN_chr6_144280335_144858034	144347837	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0004 a0004	a0004c0017 a0004c0017	a0004c0017t0024 a0004c0017t0024	a0004c0017t0024g0126 a0004c0017t0024g0126	1	79	0.0127	11	c.80- others(28): Show c.80-55284_80-55274dupTTTTTTTTTTT	UTRN	ENSG00000152818.20	transcript	ENST00000367545.8	protein_coding	2/74		INFO_REALIGN_3_PRIME	chr6	TogoVar
UTRN_chr6_144280335_144858034	144645949	T T	TTTAGCAC others(4): Show TTTAGCACACAC	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0100 a0001c0002t0007g0100	1	126	0.0079	11	c.748 others(32): Show c.7480-32455_7480-32445dupTAGCACACACT	UTRN	ENSG00000152818.20	transcript	ENST00000367545.8	protein_coding	51/74		INFO_REALIGN_3_PRIME	chr6	TogoVar
UTRN_chr6_144280335_144858034	144690095	T T	TGTGTGTG others(4): Show TGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0008 a0003c0012t0008	a0003c0012t0008g0036 a0003c0012t0008g0036	1	35	0.0286	11	c.765 others(30): Show c.7653-9992_7653-9991insGTGTGTGTGTG	UTRN	ENSG00000152818.20	transcript	ENST00000367545.8	protein_coding	52/74			chr6	TogoVar
UTRN_chr6_144280335_144858034	144690095	T T	TTTGTGTG others(4): Show TTTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0059 a0001c0010t0002g0059	1	35	0.0286	11	c.765 others(30): Show c.7653-9991_7653-9990insTGTGTGTGTGT	UTRN	ENSG00000152818.20	transcript	ENST00000367545.8	protein_coding	52/74		INFO_REALIGN_3_PRIME	chr6	TogoVar
UTRN_chr6_144280335_144858034	144690095	T T	TTTTTTTT others(4): Show TTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0102 a0001c0001t0005g0102	1	35	0.0286	11	c.765 others(30): Show c.7653-9991_7653-9990insTTTTTTTTTGT	UTRN	ENSG00000152818.20	transcript	ENST00000367545.8	protein_coding	52/74		INFO_REALIGN_3_PRIME	chr6	TogoVar
UTRN_chr6_144280335_144858034	144699473	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02027.hp1 HG02886.hp1 others(2): Show HG01433.hp1 HG02027.hp1 HG02886.hp1 HG03579.hp2 NA19079.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0043 a0001c0001 a0001c0002 a0002c0043	a0001c0001t0001 a0001c0001t0005 a0001c0002t0021 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0021 a0002c0043t0003	a0001c0001t0001g0054 a0001c0001t0001g0062 a0001c0001t0005g0104 others(2): Show a0001c0001t0001g0054 a0001c0001t0001g0062 a0001c0001t0005g0104 a0001c0002t0021g0050 a0002c0043t0003g0093	5	19	0.2632	11	c.765 others(28): Show c.7653-597_7653-587dupTTTTTTTTTTT	UTRN	ENSG00000152818.20	transcript	ENST00000367545.8	protein_coding	52/74		INFO_REALIGN_3_PRIME	chr6	TogoVar
UTS2B_chr3_191262168_191335526	191289408	C C	CATAAATA others(4): Show CATAAATAAATA	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0005 a0006c0006t0005	a0006c0006t0005g0287 a0006c0006t0005g0287	1	270	0.0037	11	c.-12 others(30): Show c.-124-7096_-124-7095insTATTTATTTAT	UTS2B	ENSG00000188958.10	transcript	ENST00000340524.10	protein_coding	4/8			chr3	TogoVar
UTS2R_chr17_82366765_82382458	82379431	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	41	0.0244	11	c.39 others(22): Show c.3937_*3938insAAAAAAAAAAA	UTS2R	ENSG00000181408.5	transcript	ENST00000313135.5	protein_coding		1974		chr17	TogoVar
UVRAG_chr11_75810210_76149232	75859492	T T	TGCTTAAA others(4): Show TGCTTAAAACAA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	144	0.0069	11	c.236 others(28): Show c.236-2254_236-2253insGCTTAAAACAA	UVRAG	ENSG00000198382.9	transcript	ENST00000356136.8	protein_coding	2/14			chr11	TogoVar
UVRAG_chr11_75810210_76149232	75897871	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01884.hp2 HG02630.hp2 others(9): Show HG01074.hp1 HG01884.hp2 HG02630.hp2 HG02886.hp1 HG02896.hp1 HG02922.hp2 HG03130.hp2 HG03209.hp2 HG03453.hp2 HG06807.hp1 HG06807.hp2 NA20300.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0005 a0001c0001 a0002c0002 a0003c0005	a0001c0001t0003 a0001c0001t0004 a0001c0001t0028 others(8): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0028 a0001c0001t0038 a0002c0002t0006 a0002c0002t0007 a0002c0002t0024 a0002c0002t0025 a0002c0002t0031 a0002c0002t0036 a0003c0005t0007	a0001c0001t0003g0133 a0001c0001t0004g0053 a0001c0001t0028g0135 others(9): Show a0001c0001t0003g0133 a0001c0001t0004g0053 a0001c0001t0028g0135 a0001c0001t0038g0122 a0002c0002t0006g0116 a0002c0002t0006g0119 a0002c0002t0007g0120 a0002c0002t0024g0082 a0002c0002t0025g0091 a0002c0002t0031g0081 a0002c0002t0036g0123 a0003c0005t0007g0117	12	23	0.5217	11	c.507 others(28): Show c.507+8976_507+8986dupTTTTTTTTTTT	UVRAG	ENSG00000198382.9	transcript	ENST00000356136.8	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
UVRAG_chr11_75810210_76149232	75920008	G G	GTTTTTTG others(4): Show GTTTTTTGTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0036 a0002c0002t0036	a0002c0002t0036g0123 a0002c0002t0036g0123	1	11	0.0909	11	c.593 others(28): Show c.593+7975_593+7976insGTTTTTTTTTT	UVRAG	ENSG00000198382.9	transcript	ENST00000356136.8	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
UVRAG_chr11_75810210_76149232	75928939	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03130.hp2 HG02886.hp1 HG03130.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0028 a0002c0002t0025 a0001c0001t0028 a0002c0002t0025	a0001c0001t0028g0135 a0002c0002t0025g0091 a0001c0001t0028g0135 a0002c0002t0025g0091	2	29	0.0690	11	c.593 others(30): Show c.593+16915_593+16925dupAAAAAAAAAAA	UVRAG	ENSG00000198382.9	transcript	ENST00000356136.8	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
UXS1_chr2_106088311_106199301	106143408	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02040.hp2 HG02451.hp2 others(4): Show HG00408.hp2 HG02040.hp2 HG02451.hp2 HG02683.hp1 NA18940.hp1 NA18953.hp1 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0209 a0001c0001t0001g0225 others(4): Show a0001c0001t0001g0172 a0001c0001t0001g0209 a0001c0001t0001g0225 a0001c0001t0001g0235 a0001c0001t0001g0240 a0001c0001t0001g0244 a0001c0001t0001g0246	7	75	0.0933	11	c.472 others(28): Show c.472+1771_472+1781dupTTTTTTTTTTT	UXS1	ENSG00000115652.15	transcript	ENST00000283148.12	protein_coding	6/14			chr2	TogoVar
VAMP1_chr12_6457237_6475677	6473044	G G	GAAAGAAA others(4): Show GAAAGAAAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0068 a0001c0001t0028g0068	1	161	0.0062	11	c.-25 others(22): Show c.-2514_-2513insTCTTTTTCTTT	VAMP1	ENSG00000139190.17	transcript	ENST00000396308.4	protein_coding		2368		chr12	TogoVar
VAMP2_chr17_8154149_8167948	8160377	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01099.hp2 HG01261.hp1 HG01261.hp2 others(11): Show HG01099.hp2 HG01261.hp1 HG01261.hp2 HG02132.hp1 HG02165.hp2 HG02683.hp2 HG03490.hp1 NA18941.hp1 NA18960.hp1 NA18984.hp2 NA18986.hp1 NA19068.hp2 NA19070.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0010 a0001c0001t0010g0039 a0001c0001t0010g0010 a0001c0001t0010g0039	14	348	0.0402	11	c.47 others(20): Show c.477_*478insAAAAAAAAAAA	VAMP2	ENSG00000220205.10	transcript	ENST00000316509.11	protein_coding	5/5	477		chr17	TogoVar
VAMP2_chr17_8154149_8167948	8160380	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00738.hp1 others(13): Show HG00323.hp1 HG00323.hp2 HG00738.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG01358.hp2 HG01978.hp1 HG02145.hp1 HG02273.hp2 HG02735.hp2 HG03516.hp1 HG03669.hp2 HG03688.hp1 HG04199.hp1 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0008 a0001c0001t0006g0058 a0001c0001t0006g0008 a0001c0001t0006g0058	16	76	0.2105	11	c.46 others(20): Show c.464_*474dupAAAAAAAAAAA	VAMP2	ENSG00000220205.10	transcript	ENST00000316509.11	protein_coding	5/5	474		chr17	TogoVar
VAMP4_chr1_171695160_171747065	171723387	C C	CATCCCTT others(4): Show CATCCCTTATCT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02630.hp2 HG02818.hp1 others(2): Show HG01884.hp2 HG02630.hp2 HG02818.hp1 HG03486.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0072 a0001c0001t0081 others(1): Show a0001c0001t0041 a0001c0001t0072 a0001c0001t0081 a0001c0001t0082	a0001c0001t0041g0118 a0001c0001t0041g0119 a0001c0001t0072g0120 others(2): Show a0001c0001t0041g0118 a0001c0001t0041g0119 a0001c0001t0072g0120 a0001c0001t0081g0291 a0001c0001t0082g0117	5	364	0.0137	11	c.114 others(28): Show c.114-4177_114-4167dupAGATAAGGGAT	VAMP4	ENSG00000117533.15	transcript	ENST00000236192.12	protein_coding	3/7			chr1	TogoVar
VANGL2_chr1_160395564_160433670	160403034	T T	TCCTCAGG others(4): Show TCCTCAGGGCTC	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0104 a0001c0001t0003g0104	1	388	0.0026	11	c.-19 others(30): Show c.-191+2169_-191+2179dupCAGGGCTCCCT	VANGL2	ENSG00000162738.7	transcript	ENST00000368061.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
VAPB_chr20_58384229_58456101	58412576	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01261.hp1 HG01433.hp1 others(11): Show HG00738.hp2 HG01261.hp1 HG01433.hp1 HG02145.hp2 HG02630.hp2 HG02809.hp2 HG02970.hp2 HG03130.hp1 HG03209.hp2 HG03471.hp1 HG03669.hp1 HG04228.hp2 NA19030.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0013 others(4): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0013 a0001c0001t0017 a0001c0001t0018 a0001c0001t0021 a0001c0001t0069	a0001c0001t0005g0237 a0001c0001t0005g0243 a0001c0001t0005g0346 others(11): Show a0001c0001t0005g0237 a0001c0001t0005g0243 a0001c0001t0005g0346 a0001c0001t0007g0185 a0001c0001t0007g0192 a0001c0001t0013g0175 a0001c0001t0013g0178 a0001c0001t0013g0179 a0001c0001t0017g0018 a0001c0001t0017g0019 a0001c0001t0018g0236 a0001c0001t0018g0239 a0001c0001t0021g0039 a0001c0001t0069g0238	14	133	0.1053	11	c.59- others(26): Show c.59-5631_59-5621dupAAAAAAAAAAA	VAPB	ENSG00000124164.16	transcript	ENST00000475243.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
VASP_chr19_45502479_45531983	45513468	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01952.hp1 others(10): Show HG01070.hp1 HG01071.hp2 HG01952.hp1 HG01975.hp2 HG01993.hp2 HG02004.hp1 HG02572.hp2 HG02976.hp2 HG03579.hp1 NA18981.hp1 NA19062.hp1 NA19074.hp1 NA19077.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0007 a0001c0001 a0001c0002 a0004c0007	a0001c0001t0001 a0001c0002t0001 a0004c0007t0001 a0001c0001t0001 a0001c0002t0001 a0004c0007t0001	a0001c0001t0001g0031 a0001c0001t0001g0183 a0001c0001t0001g0224 others(8): Show a0001c0001t0001g0031 a0001c0001t0001g0183 a0001c0001t0001g0224 a0001c0002t0001g0021 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0337 a0001c0002t0001g0338 a0004c0007t0001g0042	13	157	0.0828	11	c.6-4 others(24): Show c.6-4184_6-4174dupTTTTTTTTTTT	VASP	ENSG00000125753.15	transcript	ENST00000245932.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
VASP_chr19_45502479_45531983	45516983	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0323 a0001c0001t0002g0323	1	64	0.0156	11	c.6-6 others(22): Show c.6-667_6-657dupAAAAAAAAAAA	VASP	ENSG00000125753.15	transcript	ENST00000245932.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
VASP_chr19_45502479_45531983	45519894	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03579.hp1 HG02572.hp2 HG03579.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0001 a0004c0007t0001 a0001c0001t0001 a0004c0007t0001	a0001c0001t0001g0224 a0004c0007t0001g0042 a0001c0001t0001g0224 a0004c0007t0001g0042	2	123	0.0163	11	c.344 others(28): Show c.344-1410_344-1400dupTTTTTTTTTTT	VASP	ENSG00000125753.15	transcript	ENST00000245932.11	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
VASP_chr19_45502479_45531983	45523190	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0105 a0001c0002t0001g0105	1	106	0.0094	11	c.821 others(26): Show c.821+392_821+402dupTTTTTTTTTTT	VASP	ENSG00000125753.15	transcript	ENST00000245932.11	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
VASP_chr19_45502479_45531983	45527402	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp1 NA19009.hp2 NA18947.hp1 NA19009.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0083 a0001c0002t0001g0105 a0001c0002t0001g0083 a0001c0002t0001g0105	2	230	0.0087	11	c.12 others(22): Show c.1225_*1226insTTTTTTTTTTT	VASP	ENSG00000125753.15	transcript	ENST00000245932.11	protein_coding		420		chr19	TogoVar
VASP_chr19_45502479_45531983	45527419	T T	TTTTTTTT others(4): Show TTTTTTTTTTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00673.hp2 HG00733.hp2 others(19): Show HG00558.hp2 HG00673.hp2 HG00733.hp2 HG01891.hp2 HG02056.hp2 HG02080.hp2 HG02129.hp2 HG02165.hp2 HG02647.hp2 HG02683.hp2 HG02965.hp2 HG03017.hp2 HG03654.hp2 HG03688.hp2 NA18747.hp1 NA18950.hp2 NA18977.hp1 NA18982.hp1 NA19009.hp1 NA19011.hp2 NA19012.hp2 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0018 others(14): Show a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0114 a0001c0001t0001g0205 a0001c0001t0007g0050 a0001c0001t0007g0059	22	375	0.0587	11	c.12 others(22): Show c.1242_*1243insTTTTTTTTTTA	VASP	ENSG00000125753.15	transcript	ENST00000245932.11	protein_coding		437		chr19	TogoVar
VAT1L_chr16_77783564_77985107	77805865	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01255.hp1 HG02895.hp1 others(1): Show HG00738.hp2 HG01255.hp1 HG02895.hp1 HG02897.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0005 a0001c0001 a0001c0002 a0002c0005	a0001c0001t0009 a0001c0002t0004 a0002c0005t0016 a0001c0001t0009 a0001c0002t0004 a0002c0005t0016	a0001c0001t0009g0217 a0001c0002t0004g0304 a0002c0005t0016g0271 others(1): Show a0001c0001t0009g0217 a0001c0002t0004g0304 a0002c0005t0016g0271 a0002c0005t0016g0272	4	118	0.0339	11	c.234 others(30): Show c.234-11051_234-11041dupTTTTTTTTTTT	VAT1L	ENSG00000171724.3	transcript	ENST00000302536.3	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr16	TogoVar

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