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
USP51_chrX_55479616_55494848	55492799	T T	TACACACA others(5): Show TACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 NA18965.hp1 HG03516.hp1 NA18965.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0010 a0001c0001 a0005c0010	a0001c0001t0003 a0005c0010t0002 a0001c0001t0003 a0005c0010t0002	a0001c0001t0003g0002 a0005c0010t0002g0023 a0001c0001t0003g0002 a0005c0010t0002g0023	2	58	0.0345	12	c.-32 others(23): Show c.-3271_-3270insGTGTGTGTGTGT	USP51	ENSG00000247746.5	transcript	ENST00000500968.4	protein_coding		2952		chrX	TogoVar
USP53_chr4_119207713_119300518	119213641	G G	GATATATA others(5): Show GATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02735.hp2 HG03239.hp1 others(4): Show HG00280.hp2 HG02735.hp2 HG03239.hp1 HG03490.hp1 HG03942.hp1 HG04228.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0047 a0001c0001t0002g0048 others(4): Show a0001c0001t0002g0043 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052	7	286	0.0245	12	c.-94 others(29): Show c.-941-420_-941-409dupATATATATATAT	USP53	ENSG00000145390.12	transcript	ENST00000692078.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
USP53_chr4_119207713_119300518	119227256	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01517.hp1 HG01884.hp2 others(11): Show HG01243.hp1 HG01517.hp1 HG01884.hp2 HG02055.hp2 HG02083.hp2 HG02145.hp1 HG02622.hp2 NA18990.hp2 NA18994.hp1 NA19089.hp2 NA19240.hp2 NA20129.hp2 NA20752.hp1 NA20805.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0009c0014	a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 others(7): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0028 a0001c0001t0030 a0001c0001t0031 a0001c0003t0003 a0002c0002t0014 a0009c0014t0016	a0001c0001t0002g0107 a0001c0001t0008g0085 a0001c0001t0008g0086 others(11): Show a0001c0001t0002g0107 a0001c0001t0008g0085 a0001c0001t0008g0086 a0001c0001t0008g0094 a0001c0001t0009g0228 a0001c0001t0010g0037 a0001c0001t0028g0106 a0001c0001t0030g0131 a0001c0001t0031g0134 a0001c0003t0003g0252 a0001c0003t0003g0262 a0001c0003t0003g0263 a0002c0002t0014g0258 a0009c0014t0016g0218	14	39	0.3590	12	c.-66 others(31): Show c.-664-8002_-664-7991dupCACACACACACA	USP53	ENSG00000145390.12	transcript	ENST00000692078.1	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
USP53_chr4_119207713_119300518	119265670	A A	AAACAACA others(5): Show AAACAACAACAAC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03139.hp1 HG03540.hp2 HG02818.hp1 HG03139.hp1 HG03540.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0004 a0001c0005t0009 a0001c0003t0004 a0001c0005t0009	a0001c0003t0004g0317 a0001c0005t0009g0295 a0001c0005t0009g0296 a0001c0003t0004g0317 a0001c0005t0009g0295 a0001c0005t0009g0296	3	223	0.0135	12	c.973 others(29): Show c.973-1632_973-1621dupCAACAACAACAA	USP53	ENSG00000145390.12	transcript	ENST00000692078.1	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
USP54_chr10_73492538_73596342	73523880	T T	TTATTTAT others(5): Show TTATTTATTATTA	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA19007.hp1 NA19007.hp2 HG00609.hp2 NA19007.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0164 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0164	3	168	0.0179	12	c.219 others(29): Show c.2195-131_2195-130insTAATAATAAATA	USP54	ENSG00000166348.20	transcript	ENST00000687698.1	protein_coding	16/23			chr10	TogoVar
USP6NL_chr10_11455510_11616650	11460624	C C	CATATATA others(5): Show CATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02129.hp2 HG03834.hp2 NA19081.hp2 HG02129.hp2 HG03834.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0129 a0001c0002t0001g0147 a0001c0002t0001g0158 a0001c0001t0001g0129 a0001c0002t0001g0147 a0001c0002t0001g0158	3	118	0.0254	12	c.18 others(23): Show c.1805_*1816dupATATATATATAT	USP6NL	ENSG00000148429.15	transcript	ENST00000609104.6	protein_coding	15/15	1816		chr10	TogoVar
USP6NL_chr10_11455510_11616650	11483650	A A	AGGGGTAG others(5): Show AGGGGTAGGGACT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0264 a0001c0001t0003g0264	1	399	0.0025	12	c.925 others(29): Show c.925+1320_925+1321insAGTCCCTACCCC	USP6NL	ENSG00000148429.15	transcript	ENST00000609104.6	protein_coding	13/14			chr10	TogoVar
USP6NL_chr10_11455510_11616650	11528128	G G	GACACACA others(5): Show GACACACACACAC	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0101 a0001c0003t0002g0101	1	276	0.0036	12	c.5-5 others(23): Show c.5-573_5-562dupGTGTGTGTGTGT	USP6NL	ENSG00000148429.15	transcript	ENST00000609104.6	protein_coding	2/14			chr10	TogoVar
USP6NL_chr10_11455510_11616650	11554966	A A	ATTTTTTT others(5): Show ATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01167.hp1 HG01243.hp1 others(23): Show HG00323.hp2 HG01167.hp1 HG01243.hp1 HG01255.hp2 HG01346.hp1 HG01993.hp2 HG02129.hp1 HG02258.hp2 HG02615.hp1 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG03540.hp1 HG03540.hp2 NA18612.hp1 NA18747.hp2 NA18939.hp1 NA18950.hp1 NA18961.hp1 NA18963.hp1 NA18968.hp1 NA18982.hp1 NA19063.hp2 NA19065.hp1 NA20752.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0024 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0024 a0001c0002t0001 a0001c0002t0002 a0001c0003t0002 a0001c0015t0002	a0001c0001t0001g0091 a0001c0001t0002g0013 a0001c0001t0002g0018 others(23): Show a0001c0001t0001g0091 a0001c0001t0002g0013 a0001c0001t0002g0018 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0002g0038 a0001c0001t0002g0044 a0001c0001t0002g0056 a0001c0001t0002g0059 a0001c0001t0002g0083 a0001c0001t0002g0089 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0384 a0001c0001t0024g0398 a0001c0002t0001g0088 a0001c0002t0002g0024 a0001c0002t0002g0041 a0001c0002t0002g0042 a0001c0003t0002g0015 a0001c0003t0002g0060 a0001c0015t0002g0047	26	144	0.1806	12	c.5-2 others(27): Show c.5-27411_5-27400dupAAAAAAAAAAAA	USP6NL	ENSG00000148429.15	transcript	ENST00000609104.6	protein_coding	2/14			chr10	TogoVar
USP6NL_chr10_11455510_11616650	11555415	T T	TAAAAAAA others(5): Show TAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01256.hp2 HG01258.hp2 others(2): Show HG00639.hp1 HG01256.hp2 HG01258.hp2 HG01928.hp1 HG01952.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0012 a0001c0002 a0004c0012	a0001c0002t0003 a0004c0012t0003 a0001c0002t0003 a0004c0012t0003	a0001c0002t0003g0224 a0001c0002t0003g0277 a0001c0002t0003g0278 others(2): Show a0001c0002t0003g0224 a0001c0002t0003g0277 a0001c0002t0003g0278 a0001c0002t0003g0280 a0004c0012t0003g0279	5	233	0.0215	12	c.5-2 others(27): Show c.5-27860_5-27849dupTTTTTTTTTTTT	USP6NL	ENSG00000148429.15	transcript	ENST00000609104.6	protein_coding	2/14			chr10	TogoVar
USP6NL_chr10_11455510_11616650	11555433	A A	AAAAAAAA others(5): Show AAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0012 a0001c0003t0002g0012	1	236	0.0042	12	c.5-2 others(27): Show c.5-27867_5-27866insATTTTTTTTTTT	USP6NL	ENSG00000148429.15	transcript	ENST00000609104.6	protein_coding	2/14			chr10	TogoVar
USP6NL_chr10_11455510_11616650	11555433	A A	AAAAAAAA others(5): Show AAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0228 a0001c0002t0003g0228	1	236	0.0042	12	c.5-2 others(27): Show c.5-27867_5-27866insATATTTTTTTTT	USP6NL	ENSG00000148429.15	transcript	ENST00000609104.6	protein_coding	2/14			chr10	TogoVar
USP6NL_chr10_11455510_11616650	11555433	A A	AAAAAATA others(5): Show AAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0154	1	236	0.0042	12	c.5-2 others(27): Show c.5-27867_5-27866insATATATATTTTT	USP6NL	ENSG00000148429.15	transcript	ENST00000609104.6	protein_coding	2/14			chr10	TogoVar
USP6NL_chr10_11455510_11616650	11555433	A A	AATATATA others(5): Show AATATATATATAT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	1	236	0.0042	12	c.5-2 others(27): Show c.5-27878_5-27867dupATATATATATAT	USP6NL	ENSG00000148429.15	transcript	ENST00000609104.6	protein_coding	2/14			chr10	TogoVar
USP6NL_chr10_11455510_11616650	11555447	T T	TAGAGAGA others(5): Show TAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19005.hp1 NA19001.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0086 a0001c0001t0002g0080 a0001c0001t0002g0086	2	392	0.0051	12	c.5-2 others(27): Show c.5-27881_5-27880insCTCTCTCTCTCT	USP6NL	ENSG00000148429.15	transcript	ENST00000609104.6	protein_coding	2/14			chr10	TogoVar
USP6NL_chr10_11455510_11616650	11555451	T T	TAGAGAGA others(5): Show TAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00673.hp2 NA18980.hp1 NA18989.hp1 others(1): Show HG00673.hp2 NA18980.hp1 NA18989.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0014 a0001c0001t0002 a0001c0001t0014	a0001c0001t0002g0010 a0001c0001t0002g0035 a0001c0001t0002g0063 others(1): Show a0001c0001t0002g0010 a0001c0001t0002g0035 a0001c0001t0002g0063 a0001c0001t0014g0009	4	214	0.0187	12	c.5-2 others(27): Show c.5-27896_5-27885dupCTCTCTCTCTCT	USP6NL	ENSG00000148429.15	transcript	ENST00000609104.6	protein_coding	2/14			chr10	TogoVar
USP6NL_chr10_11455510_11616650	11555451	T T	TATAGAGA others(5): Show TATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18995.hp2 NA18977.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0053 a0001c0001t0002g0034 a0001c0001t0002g0053	2	212	0.0094	12	c.5-2 others(27): Show c.5-27885_5-27884insCTCTCTCTCTAT	USP6NL	ENSG00000148429.15	transcript	ENST00000609104.6	protein_coding	2/14			chr10	TogoVar
USP6NL_chr10_11455510_11616650	11555451	T T	TATATAGA others(5): Show TATATAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02129.hp1 NA19003.hp2 HG02027.hp1 HG02129.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0078 a0001c0001t0002g0081 a0001c0001t0002g0029 a0001c0001t0002g0078 a0001c0001t0002g0081	3	213	0.0141	12	c.5-2 others(27): Show c.5-27885_5-27884insCTCTCTCTATAT	USP6NL	ENSG00000148429.15	transcript	ENST00000609104.6	protein_coding	2/14			chr10	TogoVar
USP6NL_chr10_11455510_11616650	11555451	T T	TATATATA others(5): Show TATATATAGAGAG	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0060 a0001c0003t0002g0060	1	211	0.0047	12	c.5-2 others(27): Show c.5-27885_5-27884insCTCTCTATATAT	USP6NL	ENSG00000148429.15	transcript	ENST00000609104.6	protein_coding	2/14			chr10	TogoVar
USP6NL_chr10_11455510_11616650	11555451	T T	TATATATA others(5): Show TATATATATAGAG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0042 a0001c0002t0002g0042	1	211	0.0047	12	c.5-2 others(27): Show c.5-27885_5-27884insCTCTATATATAT	USP6NL	ENSG00000148429.15	transcript	ENST00000609104.6	protein_coding	2/14			chr10	TogoVar
USP6NL_chr10_11455510_11616650	11555451	T T	TATATATA others(5): Show TATATATATATAG	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0055 a0001c0003t0002g0055	1	211	0.0047	12	c.5-2 others(27): Show c.5-27885_5-27884insCTATATATATAT	USP6NL	ENSG00000148429.15	transcript	ENST00000609104.6	protein_coding	2/14			chr10	TogoVar
USP6NL_chr10_11455510_11616650	11555461	G G	GAGAGAGA others(5): Show GAGAGAGAGAGAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02109.hp1 HG02572.hp2 others(4): Show HG01891.hp1 HG02109.hp1 HG02572.hp2 HG02622.hp2 HG03130.hp2 HG03139.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0208 a0001c0002t0001g0196 a0001c0002t0001g0197 others(4): Show a0001c0001t0001g0208 a0001c0002t0001g0196 a0001c0002t0001g0197 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0207 a0001c0002t0001g0385	7	369	0.0190	12	c.5-2 others(27): Show c.5-27895_5-27894insTTCTCTCTCTCT	USP6NL	ENSG00000148429.15	transcript	ENST00000609104.6	protein_coding	2/14			chr10	TogoVar
USP6NL_chr10_11455510_11616650	11555465	G G	GAGAGAGA others(5): Show GAGAGAGAGAGAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02486.hp1 NA18906.hp1 HG01884.hp1 HG02486.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0002t0001g0192 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0002t0001g0192	3	388	0.0077	12	c.5-2 others(27): Show c.5-27899_5-27898insTTCTCTCTCTCT	USP6NL	ENSG00000148429.15	transcript	ENST00000609104.6	protein_coding	2/14			chr10	TogoVar
USP6NL_chr10_11455510_11616650	11580867	T T	TGATGGAT others(5): Show TGATGGATGGATG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00621.hp2 HG01099.hp1 others(24): Show HG00099.hp2 HG00621.hp2 HG01099.hp1 HG01257.hp2 HG01258.hp1 HG01496.hp2 HG01928.hp1 HG01952.hp2 HG02622.hp2 HG02717.hp1 HG02738.hp2 HG03486.hp1 HG03669.hp2 HG03834.hp1 HG03927.hp1 HG04204.hp1 NA18967.hp1 NA18981.hp2 NA18985.hp2 NA18988.hp1 NA19001.hp2 NA19011.hp1 NA19064.hp2 NA19067.hp1 NA19083.hp1 NA19085.hp2 NA19240.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0016 a0004c0012	a0001c0001t0002 a0001c0001t0003 a0001c0001t0014 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0014 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0003t0002 a0001c0016t0002 a0004c0012t0003	a0001c0001t0002g0062 a0001c0001t0002g0072 a0001c0001t0002g0076 others(24): Show a0001c0001t0002g0062 a0001c0001t0002g0072 a0001c0001t0002g0076 a0001c0001t0002g0084 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0177 a0001c0001t0003g0006 a0001c0001t0003g0260 a0001c0001t0014g0009 a0001c0002t0001g0207 a0001c0002t0001g0385 a0001c0002t0002g0064 a0001c0002t0003g0280 a0001c0003t0002g0003 a0001c0003t0002g0104 a0001c0003t0002g0167 a0001c0003t0002g0168 a0001c0003t0002g0175 a0001c0003t0002g0176 a0001c0003t0002g0178 a0001c0003t0002g0190 a0001c0003t0002g0215 a0001c0016t0002g0082 a0004c0012t0003g0279	27	173	0.1561	12	c.4+1 others(27): Show c.4+16752_4+16763dupCATCCATCCATC	USP6NL	ENSG00000148429.15	transcript	ENST00000609104.6	protein_coding	2/14			chr10	TogoVar
USP6_chr17_5111032_5179991	5115555	A A	AACACACA others(5): Show AACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0095 a0001c0001t0009g0095	1	12	0.0833	12	c.-31 others(23): Show c.-3113_-3112insACACACACACAC	USP6	ENSG00000129204.17	transcript	ENST00000574788.6	protein_coding		476		chr17	TogoVar
USP6_chr17_5111032_5179991	5125678	G G	GCACACAC others(5): Show GCACACACACACA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02559.hp2 HG02486.hp1 HG02559.hp2	a0001 a0017 a0001 a0017	a0001c0001 a0017c0037 a0001c0001 a0017c0037	a0001c0001t0013 a0017c0037t0044 a0001c0001t0013 a0017c0037t0044	a0001c0001t0013g0046 a0017c0037t0044g0061 a0001c0001t0013g0046 a0017c0037t0044g0061	2	204	0.0098	12	c.-59 others(28): Show c.-591-109_-591-98dupACACACACACAC	USP6	ENSG00000129204.17	transcript	ENST00000574788.6	protein_coding	5/37		INFO_REALIGN_3_PRIME	chr17	TogoVar
USP6_chr17_5111032_5179991	5150295	A A	AAAATAAA others(5): Show AAAATAAAAAAAT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02300.hp1 HG01496.hp1 HG02300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0018 a0002c0002t0003 a0002c0002t0018	a0002c0002t0003g0180 a0002c0002t0018g0179 a0002c0002t0003g0180 a0002c0002t0018g0179	2	169	0.0118	12	c.264 others(31): Show c.2643+1535_2643+1536insAAAATAAATAAA	USP6	ENSG00000129204.17	transcript	ENST00000574788.6	protein_coding	30/37		INFO_REALIGN_3_PRIME	chr17	TogoVar
USP6_chr17_5111032_5179991	5158614	G G	GGAGAGAG others(5): Show GGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02572.hp2 HG03453.hp1 others(1): Show HG00609.hp2 HG02572.hp2 HG03453.hp1 NA19074.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0009 a0001c0001 a0002c0009	a0001c0001t0001 a0002c0009t0011 a0001c0001t0001 a0002c0009t0011	a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0102 others(1): Show a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0102 a0002c0009t0011g0024	4	56	0.0714	12	c.282 others(31): Show c.2829-2867_2829-2856dupGAGAGAGAGAGA	USP6	ENSG00000129204.17	transcript	ENST00000574788.6	protein_coding	31/37		INFO_REALIGN_3_PRIME	chr17	TogoVar
USP7_chr16_8887097_8968906	8897718	A A	AATATATA others(5): Show AATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0316 a0001c0001t0003g0316	1	324	0.0031	12	c.271 others(29): Show c.2719-620_2719-619insATATATATATAT	USP7	ENSG00000187555.17	transcript	ENST00000344836.9	protein_coding	25/30			chr16	TogoVar
USP7_chr16_8887097_8968906	8897722	A A	AATACATA others(5): Show AATACATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp2 HG03710.hp2 HG00140.hp2 HG00642.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0016g0052 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0016g0052	3	190	0.0158	12	c.271 others(29): Show c.2719-624_2719-623insATATATATGTAT	USP7	ENSG00000187555.17	transcript	ENST00000344836.9	protein_coding	25/30			chr16	TogoVar
USP7_chr16_8887097_8968906	8897726	A A	AAAAAAAA others(5): Show AAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01257.hp1 HG01258.hp2 others(2): Show HG01169.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp2 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0191 a0001c0001t0001g0233 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0191 a0001c0001t0001g0233 a0001c0001t0001g0265	5	31	0.1613	12	c.271 others(29): Show c.2719-628_2719-627insATATATTTTTTT	USP7	ENSG00000187555.17	transcript	ENST00000344836.9	protein_coding	25/30			chr16	TogoVar
USP7_chr16_8887097_8968906	8897726	A A	AAAAAATA others(5): Show AAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01993.hp1 HG02027.hp1 others(11): Show HG01109.hp2 HG01993.hp1 HG02027.hp1 HG02071.hp2 HG02738.hp1 HG02738.hp2 HG03669.hp2 NA18956.hp2 NA18988.hp1 NA18994.hp1 NA19000.hp2 NA19012.hp2 NA19063.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0001 a0001c0001t0017	a0001c0001t0001g0102 a0001c0001t0001g0188 a0001c0001t0001g0190 others(11): Show a0001c0001t0001g0102 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0194 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0252 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0271 a0001c0001t0001g0274 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0017g0226	14	40	0.3500	12	c.271 others(29): Show c.2719-628_2719-627insATATATATTTTT	USP7	ENSG00000187555.17	transcript	ENST00000344836.9	protein_coding	25/30			chr16	TogoVar
USP7_chr16_8887097_8968906	8897726	A A	AAAATATA others(5): Show AAAATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG04184.hp2 NA19065.hp1 HG01255.hp1 HG04184.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0227 a0001c0001t0001g0264 a0001c0001t0001g0201 a0001c0001t0001g0227 a0001c0001t0001g0264	3	29	0.1034	12	c.271 others(29): Show c.2719-628_2719-627insATATATATATTT	USP7	ENSG00000187555.17	transcript	ENST00000344836.9	protein_coding	25/30			chr16	TogoVar
USP7_chr16_8887097_8968906	8897726	A A	AATATATA others(5): Show AATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	27	0.0370	12	c.271 others(29): Show c.2718+622_2719-628dupATATATATATAT	USP7	ENSG00000187555.17	transcript	ENST00000344836.9	protein_coding	25/30			chr16	TogoVar
USP7_chr16_8887097_8968906	8963934	G G	GGGGGAGG others(5): Show GGGGGAGGGGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0323 a0001c0001t0027g0323	1	336	0.0030	12	c.-65 others(21): Show c.-650_-649insGGCCCCCTCCCC	USP7	ENSG00000187555.17	transcript	ENST00000344836.9	protein_coding		29		chr16	TogoVar
USP8_chr15_50419405_50519421	50419438	A A	AACACACA others(5): Show AACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0015 a0002c0003t0015	a0002c0003t0015g0079 a0002c0003t0015g0079	1	217	0.0046	12	c.-51 others(23): Show c.-5142_-5141insACACACACACAC	USP8	ENSG00000138592.14	transcript	ENST00000307179.9	protein_coding		4966		chr15	TogoVar
USP8_chr15_50419405_50519421	50431165	C C	CTGTGTGT others(5): Show CTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02451.hp2 HG02630.hp2 others(15): Show HG01167.hp1 HG02451.hp2 HG02630.hp2 HG02717.hp1 HG02895.hp1 HG02897.hp2 HG03098.hp2 HG03688.hp1 HG03834.hp2 NA18951.hp1 NA18954.hp1 NA18974.hp2 NA18998.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19081.hp2 NA19091.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0007c0012 a0001c0001 a0001c0002 a0007c0012	a0001c0001t0003 a0001c0001t0214 a0001c0001t0279 others(11): Show a0001c0001t0003 a0001c0001t0214 a0001c0001t0279 a0001c0001t0282 a0001c0001t0283 a0001c0001t0284 a0001c0001t0285 a0001c0001t0286 a0001c0002t0018 a0001c0002t0134 a0001c0002t0173 a0001c0002t0194 a0001c0002t0195 a0007c0012t0168	a0001c0001t0003g0108 a0001c0001t0003g0129 a0001c0001t0003g0131 others(15): Show a0001c0001t0003g0108 a0001c0001t0003g0129 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0214g0122 a0001c0001t0279g0130 a0001c0001t0282g0263 a0001c0001t0283g0034 a0001c0001t0284g0033 a0001c0001t0285g0032 a0001c0001t0286g0031 a0001c0002t0018g0048 a0001c0002t0134g0045 a0001c0002t0173g0056 a0001c0002t0194g0046 a0001c0002t0195g0047 a0007c0012t0168g0068	18	19	0.9474	12	c.-66 others(29): Show c.-66+6665_-66+6676dupGTGTGTGTGTGT	USP8	ENSG00000138592.14	transcript	ENST00000307179.9	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr15	TogoVar
USP8_chr15_50419405_50519421	50439790	C C	CAATAATA others(5): Show CAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG04199.hp2 NA18959.hp1 others(1): Show HG02818.hp1 HG04199.hp2 NA18959.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0072 a0001c0001t0073 others(1): Show a0001c0001t0026 a0001c0001t0072 a0001c0001t0073 a0001c0001t0131	a0001c0001t0026g0328 a0001c0001t0072g0354 a0001c0001t0073g0353 others(1): Show a0001c0001t0026g0328 a0001c0001t0072g0354 a0001c0001t0073g0353 a0001c0001t0131g0260	4	146	0.0274	12	c.104 others(27): Show c.104+641_104+652dupAATAATAATAAT	USP8	ENSG00000138592.14	transcript	ENST00000307179.9	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr15	TogoVar
USP8_chr15_50419405_50519421	50445545	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG03516.hp2 HG03688.hp1 others(4): Show HG01257.hp1 HG03516.hp2 HG03688.hp1 NA18955.hp2 NA18981.hp2 NA18990.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0029 a0001c0001t0043 a0001c0001t0083 others(4): Show a0001c0001t0029 a0001c0001t0043 a0001c0001t0083 a0001c0001t0205 a0001c0002t0037 a0001c0002t0040 a0001c0002t0173	a0001c0001t0029g0278 a0001c0001t0043g0149 a0001c0001t0083g0342 others(4): Show a0001c0001t0029g0278 a0001c0001t0043g0149 a0001c0001t0083g0342 a0001c0001t0205g0146 a0001c0002t0037g0051 a0001c0002t0040g0043 a0001c0002t0173g0056	7	15	0.4667	12	c.250 others(29): Show c.250-3842_250-3831dupAAAAAAAAAAAA	USP8	ENSG00000138592.14	transcript	ENST00000307179.9	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr15	TogoVar
USP8_chr15_50419405_50519421	50499896	T T	TAGTATTC others(5): Show TAGTATTCTCACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0157 a0001c0006t0157	a0001c0006t0157g0069 a0001c0006t0157g0069	1	380	0.0026	12	c.80 others(21): Show c.809_*820dupAGTATTCTCACA	USP8	ENSG00000138592.14	transcript	ENST00000307179.9	protein_coding	20/20	821	INFO_REALIGN_3_PRIME	chr15	TogoVar
USP9X_chrX_41080445_41241579	41099096	G G	GTTTTTTT others(5): Show GTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01978.hp1 HG02004.hp1 others(6): Show HG00423.hp1 HG01978.hp1 HG02004.hp1 HG03831.hp1 NA18965.hp1 NA18992.hp1 NA19007.hp1 NA19066.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0259 a0001c0001t0003g0260 a0001c0001t0003g0281 others(6): Show a0001c0001t0003g0259 a0001c0001t0003g0260 a0001c0001t0003g0281 a0001c0001t0003g0285 a0001c0001t0003g0290 a0001c0001t0003g0292 a0001c0001t0004g0240 a0001c0001t0004g0254 a0001c0001t0004g0267	9	90	0.1000	12	c.-15 others(33): Show c.-159+13002_-159+13013dupTTTTTTTTTTTT	USP9X	ENSG00000124486.15	transcript	ENST00000378308.7	protein_coding	1/44		INFO_REALIGN_3_PRIME	chrX	TogoVar
USP9X_chrX_41080445_41241579	41125643	A A	AACACACA others(5): Show AACACACACACAC	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	253	0.0040	12	c.96+ others(27): Show c.96+1950_96+1961dupACACACACACAC	USP9X	ENSG00000124486.15	transcript	ENST00000378308.7	protein_coding	2/44		INFO_REALIGN_3_PRIME	chrX	TogoVar
USP9X_chrX_41080445_41241579	41125678	A A	ACTCTCTC others(5): Show ACTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0120 a0001c0002t0002g0120	1	285	0.0035	12	c.96+ others(27): Show c.96+1955_96+1956insTCTCTCTCTCTC	USP9X	ENSG00000124486.15	transcript	ENST00000378308.7	protein_coding	2/44		INFO_REALIGN_3_PRIME	chrX	TogoVar
USP9X_chrX_41080445_41241579	41125684	A A	ACACACAC others(5): Show ACACACACACACT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01515.hp1 NA20805.hp1 HG00099.hp2 HG01515.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0006g0125 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0006g0125	3	66	0.0455	12	c.96+ others(27): Show c.96+1961_96+1962insACACACACACTC	USP9X	ENSG00000124486.15	transcript	ENST00000378308.7	protein_coding	2/44		INFO_REALIGN_3_PRIME	chrX	TogoVar
USP9X_chrX_41080445_41241579	41125684	A A	ACACACAC others(5): Show ACACACACTCTCT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	64	0.0156	12	c.96+ others(27): Show c.96+1961_96+1962insACACACTCTCTC	USP9X	ENSG00000124486.15	transcript	ENST00000378308.7	protein_coding	2/44		INFO_REALIGN_3_PRIME	chrX	TogoVar
USP9X_chrX_41080445_41241579	41125684	A A	ACACTCTC others(5): Show ACACTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0043	1	64	0.0156	12	c.96+ others(27): Show c.96+1961_96+1962insACTCTCTCTCTC	USP9X	ENSG00000124486.15	transcript	ENST00000378308.7	protein_coding	2/44		INFO_REALIGN_3_PRIME	chrX	TogoVar
USP9X_chrX_41080445_41241579	41161635	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG01243.hp1 others(17): Show HG00423.hp1 HG00423.hp2 HG01243.hp1 HG02071.hp1 HG02109.hp2 HG02622.hp1 HG02698.hp1 HG03688.hp1 HG03710.hp1 NA18747.hp1 NA18941.hp2 NA18954.hp1 NA18974.hp1 NA18975.hp2 NA18992.hp1 NA19043.hp1 NA19057.hp2 NA19083.hp1 NA19090.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0023	a0001c0001t0001g0145 a0001c0001t0001g0156 a0001c0001t0003g0237 others(17): Show a0001c0001t0001g0145 a0001c0001t0001g0156 a0001c0001t0003g0237 a0001c0001t0003g0239 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0256 a0001c0001t0003g0260 a0001c0001t0003g0275 a0001c0001t0003g0279 a0001c0001t0003g0283 a0001c0001t0003g0287 a0001c0001t0003g0291 a0001c0001t0004g0240 a0001c0001t0004g0246 a0001c0001t0004g0247 a0001c0001t0004g0254 a0001c0001t0004g0262 a0001c0001t0004g0270 a0001c0001t0023g0241	20	114	0.1754	12	c.189 others(31): Show c.1898-1143_1898-1132dupTTTTTTTTTTTT	USP9X	ENSG00000124486.15	transcript	ENST00000378308.7	protein_coding	14/44		INFO_REALIGN_3_PRIME	chrX	TogoVar
USP9X_chrX_41080445_41241579	41175772	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp1 HG00597.hp2 others(45): Show HG00323.hp1 HG00423.hp1 HG00597.hp2 HG01074.hp1 HG01109.hp1 HG01175.hp2 HG01243.hp1 HG01256.hp1 HG01358.hp1 HG01496.hp2 HG01934.hp1 HG01952.hp1 HG01978.hp1 HG01981.hp2 HG02004.hp1 HG02071.hp1 HG02109.hp2 HG02145.hp1 HG02155.hp2 HG02293.hp1 HG02523.hp1 HG02622.hp1 HG02630.hp2 HG02698.hp1 HG03453.hp2 HG03669.hp1 HG03710.hp1 HG03831.hp1 HG04184.hp1 NA18747.hp1 NA18906.hp1 NA18941.hp2 NA18954.hp1 NA18957.hp2 NA18964.hp1 NA18965.hp1 NA18975.hp2 NA18980.hp2 NA18990.hp1 NA18992.hp1 NA19007.hp1 NA19009.hp1 NA19011.hp2 NA19043.hp1 NA19057.hp2 NA19063.hp1 NA19090.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0022 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0022 a0001c0001t0023	a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0003g0239 others(45): Show a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0252 a0001c0001t0003g0253 a0001c0001t0003g0256 a0001c0001t0003g0261 a0001c0001t0003g0266 a0001c0001t0003g0271 a0001c0001t0003g0275 a0001c0001t0003g0280 a0001c0001t0003g0281 a0001c0001t0003g0282 a0001c0001t0003g0283 a0001c0001t0003g0284 a0001c0001t0003g0285 a0001c0001t0003g0287 a0001c0001t0003g0288 a0001c0001t0003g0289 a0001c0001t0003g0290 a0001c0001t0003g0291 a0001c0001t0003g0292 a0001c0001t0004g0240 a0001c0001t0004g0245 a0001c0001t0004g0246 a0001c0001t0004g0247 a0001c0001t0004g0248 a0001c0001t0004g0249 a0001c0001t0004g0250 a0001c0001t0004g0251 a0001c0001t0004g0254 a0001c0001t0004g0258 a0001c0001t0004g0262 a0001c0001t0004g0263 a0001c0001t0004g0264 a0001c0001t0004g0267 a0001c0001t0004g0268 a0001c0001t0004g0269 a0001c0001t0004g0270 a0001c0001t0004g0272 a0001c0001t0004g0273 a0001c0001t0004g0274 a0001c0001t0004g0278 a0001c0001t0022g0276 a0001c0001t0023g0241	48	284	0.1690	12	c.314 others(31): Show c.3148+3816_3148+3827dupCACACACACACA	USP9X	ENSG00000124486.15	transcript	ENST00000378308.7	protein_coding	21/44		INFO_REALIGN_3_PRIME	chrX	TogoVar
USP9X_chrX_41080445_41241579	41175784	C C	CACACACA others(5): Show CACACACACACAT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0279 a0001c0001t0003g0279	1	291	0.0034	12	c.314 others(31): Show c.3148+3827_3148+3828insCACACACACATA	USP9X	ENSG00000124486.15	transcript	ENST00000378308.7	protein_coding	21/44		INFO_REALIGN_3_PRIME	chrX	TogoVar
USP9X_chrX_41080445_41241579	41232219	T T	TTTTTTGT others(5): Show TTTTTTGTTTTTG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0261 a0001c0001t0003g0261	1	2	0.5000	12	c.752 others(29): Show c.7528-151_7528-140dupTGTTTTTGTTTT	USP9X	ENSG00000124486.15	transcript	ENST00000378308.7	protein_coding	44/44		INFO_REALIGN_3_PRIME	chrX	TogoVar

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