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
EXD2_chr14_69186498_69249018	69201672	G G	GTTTTTTG others(10): Show GTTTTTTGTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01496.hp1 HG02451.hp2 HG01081.hp2 HG01496.hp1 HG02451.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0168 a0001c0004t0007g0169 a0001c0004t0007g0170 a0001c0004t0007g0168 a0001c0004t0007g0169 a0001c0004t0007g0170	3	67	0.0448	17	c.-13 others(36): Show c.-131-2239_-131-2238insGTTTTTTTTTTTTTTTT	EXD2	ENSG00000081177.19	transcript	ENST00000685843.1	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
EXD2_chr14_69186498_69249018	69206455	C C	CCTTTTTT others(10): Show CCTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03195.hp2 HG03098.hp1 HG03195.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0001 a0001c0001t0005 a0002c0002t0001	a0001c0001t0005g0165 a0002c0002t0001g0162 a0001c0001t0005g0165 a0002c0002t0001g0162	2	39	0.0513	17	c.-48 others(34): Show c.-48+2455_-48+2456insCTTTTTTTTTTTTTTTT	EXD2	ENSG00000081177.19	transcript	ENST00000685843.1	protein_coding	2/9			chr14	TogoVar
EXD3_chr9_137301896_137428162	137346238	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0014 a0005c0009t0001g0014	1	37	0.0270	17	c.199 others(36): Show c.1998+1816_1998+1832dupTTTTTTTTTTTTTTTTT	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXOC2_chr6_480154_698139	501121	A A	ATATATAT others(10): Show ATATATATTATATATATC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01255.hp2 NA18970.hp2 HG00323.hp1 HG01255.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0043 a0001c0001t0002g0049 a0001c0001t0002g0165 a0001c0001t0001g0043 a0001c0001t0002g0049 a0001c0001t0002g0165	3	268	0.0112	17	c.238 others(36): Show c.2381-1438_2381-1422dupGATATATATAATATATA	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	501140	A A	ATATATAT others(10): Show ATATATATTATATATATC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG03195.hp2 HG03453.hp1 HG01081.hp1 HG03195.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0188 a0001c0001t0002g0190 a0001c0001t0002g0201 a0001c0001t0002g0188 a0001c0001t0002g0190 a0001c0001t0002g0201	3	173	0.0173	17	c.238 others(36): Show c.2381-1457_2381-1441dupGATATATATAATATATA	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	501225	A A	ATATATAT others(10): Show ATATATATTATATATATC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(20): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00733.hp1 HG01517.hp1 HG02040.hp1 HG02135.hp2 HG02965.hp2 HG02970.hp1 HG03209.hp2 HG03453.hp1 HG03540.hp2 NA18747.hp2 NA18906.hp1 NA18947.hp2 NA18957.hp2 NA18970.hp2 NA18973.hp2 NA18982.hp2 NA19002.hp2 NA19012.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0010 a0001c0001t0018 a0001c0002t0001 a0001c0002t0004 a0001c0002t0010 a0001c0003t0001 a0001c0003t0003 a0001c0018t0003	a0001c0001t0001g0072 a0001c0001t0001g0242 a0001c0001t0002g0049 others(20): Show a0001c0001t0001g0072 a0001c0001t0001g0242 a0001c0001t0002g0049 a0001c0001t0002g0104 a0001c0001t0002g0165 a0001c0001t0002g0190 a0001c0001t0003g0111 a0001c0001t0004g0081 a0001c0001t0009g0103 a0001c0001t0009g0112 a0001c0001t0010g0144 a0001c0001t0018g0083 a0001c0002t0001g0030 a0001c0002t0001g0052 a0001c0002t0001g0253 a0001c0002t0004g0113 a0001c0002t0004g0250 a0001c0002t0010g0035 a0001c0002t0010g0053 a0001c0002t0010g0251 a0001c0003t0001g0207 a0001c0003t0003g0208 a0001c0018t0003g0192	23	223	0.1031	17	c.238 others(36): Show c.2381-1542_2381-1526dupGATATATATAATATATA	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	501280	A A	ATATATAT others(10): Show ATATATATTATATATATC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0008 a0001c0011t0008	a0001c0011t0008g0154 a0001c0011t0008g0154	1	270	0.0037	17	c.238 others(36): Show c.2381-1597_2381-1581dupGATATATATAATATATA	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	501314	C C	CTATATAT others(10): Show CTATATATATTATATATA	intron_variant intron_variant	MODIFIER	HG02135.hp2 NA18747.hp2 HG02135.hp2 NA18747.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0035 a0001c0002t0010g0251 a0001c0002t0010g0035 a0001c0002t0010g0251	2	229	0.0087	17	c.238 others(36): Show c.2381-1631_2381-1615dupTATATATAATATATATA	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	501316	A A	ATATATAT others(10): Show ATATATATTATATATATC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp1 HG00673.hp1 others(45): Show HG00280.hp1 HG00639.hp1 HG00673.hp1 HG01070.hp2 HG01081.hp2 HG01106.hp2 HG01192.hp2 HG01255.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp2 HG02083.hp1 HG02132.hp2 HG02257.hp1 HG02486.hp1 HG02523.hp1 HG02622.hp2 HG02895.hp1 HG03098.hp1 HG03225.hp1 HG03491.hp2 HG03669.hp1 HG03927.hp1 HG04184.hp2 NA18942.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18962.hp1 NA18968.hp1 NA18969.hp1 NA18972.hp1 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18988.hp1 NA19004.hp1 NA19012.hp1 NA19057.hp2 NA19075.hp2 NA20752.hp1 NA21309.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0021 a0003c0006 a0005c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0024 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 a0001c0002t0012 a0001c0002t0020 a0001c0003t0001 a0001c0003t0002 a0001c0003t0016 a0001c0021t0003 a0003c0006t0004 a0005c0016t0001	a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0021 others(45): Show a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0086 a0001c0001t0001g0092 a0001c0001t0001g0100 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0121 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0184 a0001c0001t0001g0204 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0242 a0001c0001t0002g0197 a0001c0001t0003g0137 a0001c0001t0003g0198 a0001c0001t0004g0141 a0001c0001t0006g0255 a0001c0001t0024g0160 a0001c0002t0001g0067 a0001c0002t0001g0069 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0002g0060 a0001c0002t0004g0009 a0001c0002t0004g0070 a0001c0002t0004g0250 a0001c0002t0006g0132 a0001c0002t0012g0056 a0001c0002t0020g0036 a0001c0003t0001g0062 a0001c0003t0001g0206 a0001c0003t0002g0178 a0001c0003t0016g0029 a0001c0021t0003g0180 a0003c0006t0004g0236 a0003c0006t0004g0243 a0003c0006t0004g0244 a0003c0006t0004g0254 a0005c0016t0001g0172	48	245	0.1959	17	c.238 others(36): Show c.2381-1633_2381-1617dupGATATATATAATATATA	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	501325	A A	ATATATAT others(10): Show ATATATATCTATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0234 a0001c0001t0003g0234	1	266	0.0038	17	c.238 others(36): Show c.2381-1642_2381-1626dupATATATATAGATATATA	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	501466	A A	ATATATAT others(10): Show ATATATATTATATATATC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01109.hp1 HG01891.hp1 others(10): Show HG00673.hp2 HG01109.hp1 HG01891.hp1 HG02015.hp1 HG02622.hp2 HG02738.hp2 HG02895.hp1 NA18948.hp1 NA18954.hp1 NA18968.hp1 NA18969.hp1 NA18988.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0022	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0002t0001 a0001c0002t0008 a0001c0003t0001 a0001c0022t0007	a0001c0001t0001g0021 a0001c0001t0001g0100 a0001c0001t0001g0125 others(10): Show a0001c0001t0001g0021 a0001c0001t0001g0100 a0001c0001t0001g0125 a0001c0001t0001g0133 a0001c0001t0003g0198 a0001c0001t0004g0140 a0001c0001t0006g0255 a0001c0002t0001g0114 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0008g0175 a0001c0003t0001g0206 a0001c0022t0007g0163	13	266	0.0489	17	c.238 others(36): Show c.2381-1783_2381-1767dupGATATATATAATATATA	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC3L2_chr19_45207370_45250407	45226747	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp2 HG02615.hp1 others(2): Show HG00423.hp1 HG00597.hp2 HG02615.hp1 NA18979.hp1 NA18995.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0003c0005t0004	a0001c0001t0001g0194 a0001c0002t0001g0109 a0001c0002t0001g0249 others(2): Show a0001c0001t0001g0194 a0001c0002t0001g0109 a0001c0002t0001g0249 a0001c0002t0002g0213 a0003c0005t0004g0339	5	211	0.0237	17	c.158 others(34): Show c.1583+898_1583+914dupAAAAAAAAAAAAAAAAA	EXOC3L2	ENSG00000283632.4	transcript	ENST00000413988.3	protein_coding	7/11			chr19	TogoVar
EXOC3_chr5_438176_472290	441497	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00642.hp1 HG03579.hp2 others(4): Show HG00408.hp2 HG00642.hp1 HG03579.hp2 HG03688.hp1 HG04184.hp1 NA18961.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0046 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0046 a0001c0001t0001g0145 a0001c0001t0002g0160	7	33	0.2121	17	c.-18 others(28): Show c.-1850_-1849insTTTTTTTTTTTTTTTTT	EXOC3	ENSG00000180104.16	transcript	ENST00000512944.6	protein_coding		1678		chr5	TogoVar
EXOC4_chr7_133248078_134070761	133516758	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01071.hp1 HG01071.hp2 others(19): Show HG00639.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01192.hp1 HG01261.hp1 HG01496.hp2 HG01943.hp1 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02896.hp1 HG02976.hp2 NA18906.hp1 NA18948.hp1 NA18948.hp2 NA18954.hp1 NA18954.hp2 NA19005.hp1 NA19056.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0003 a0001c0002t0016 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0004t0008	a0001c0001t0001g0009 a0001c0001t0001g0027 a0001c0001t0001g0042 others(19): Show a0001c0001t0001g0009 a0001c0001t0001g0027 a0001c0001t0001g0042 a0001c0001t0001g0077 a0001c0001t0001g0083 a0001c0001t0002g0003 a0001c0001t0003g0095 a0001c0002t0001g0002 a0001c0002t0001g0011 a0001c0002t0001g0026 a0001c0002t0001g0047 a0001c0002t0001g0053 a0001c0002t0001g0099 a0001c0002t0003g0014 a0001c0002t0003g0056 a0001c0002t0003g0089 a0001c0002t0016g0054 a0001c0003t0001g0048 a0001c0003t0002g0060 a0001c0004t0001g0064 a0001c0004t0001g0072 a0001c0004t0008g0028	22	23	0.9565	17	c.141 others(38): Show c.1417+36634_1417+36635insTTTTTTTTTTTTTTTTT	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC6B_chr2_72170984_72831033	72226225	T T	TGGCATTA others(10): Show TGGCATTAGTAGAAAAAC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	102	0.0098	17	c.219 others(38): Show c.2197-42055_2197-42039dupGTTTTTCTACTAATGCC	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	20/21			chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72767808	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02451.hp2 HG02559.hp1 others(5): Show HG00642.hp2 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03490.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0003c0007	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0002t0005 a0001c0003t0001 a0003c0007t0006	a0001c0001t0002g0060 a0001c0001t0003g0056 a0001c0001t0006g0053 others(5): Show a0001c0001t0002g0060 a0001c0001t0003g0056 a0001c0001t0006g0053 a0001c0001t0007g0036 a0001c0002t0005g0072 a0001c0003t0001g0084 a0001c0003t0001g0088 a0003c0007t0006g0070	8	18	0.4444	17	c.114 others(36): Show c.114-26356_114-26340dupTTTTTTTTTTTTTTTTT	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	1/21			chr2	TogoVar
EXOC6_chr10_92843520_93064490	92858021	T T	TCCCCCCC others(10): Show TCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	283	0.0035	17	c.101 others(34): Show c.101+9387_101+9388insCCCCCCCCCCCCCCCCC	EXOC6	ENSG00000138190.17	transcript	ENST00000260762.10	protein_coding	1/21			chr10	TogoVar
EXOC6_chr10_92843520_93064490	93050759	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01175.hp2 HG01981.hp2 others(12): Show HG00423.hp1 HG01175.hp2 HG01981.hp2 HG02074.hp2 HG02135.hp2 HG02155.hp1 HG02257.hp2 HG02273.hp2 HG02683.hp2 NA18946.hp1 NA18979.hp1 NA18981.hp2 NA19000.hp1 NA19005.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 others(12): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0046 a0001c0001t0001g0098 a0001c0001t0001g0169 a0001c0001t0001g0213	15	17	0.8824	17	c.217 others(36): Show c.2170-6159_2170-6143dupAAAAAAAAAAAAAAAAA	EXOC6	ENSG00000138190.17	transcript	ENST00000260762.10	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
EXOSC10_chr1_11061618_11104869	11078264	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0255 a0001c0003t0001g0255	1	228	0.0044	17	c.175 others(34): Show c.1750-614_1750-613insAAAAAAAAAAAAAAAAA	EXOSC10	ENSG00000171824.14	transcript	ENST00000376936.9	protein_coding	14/24			chr1	TogoVar
EXOSC10_chr1_11061618_11104869	11083562	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02109.hp1 HG01891.hp2 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0206 a0001c0001t0001g0207	2	78	0.0256	17	c.109 others(34): Show c.1090-701_1090-685dupTTTTTTTTTTTTTTTTT	EXOSC10	ENSG00000171824.14	transcript	ENST00000376936.9	protein_coding	9/24			chr1	TogoVar
EXOSC1_chr10_97430909_97451006	97449861	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp1 HG03098.hp1 NA18906.hp2 HG02300.hp1 HG03098.hp1 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0051 a0001c0002t0001g0056 a0001c0002t0001g0058 a0001c0002t0001g0051 a0001c0002t0001g0056 a0001c0002t0001g0058	3	179	0.0168	17	c.-38 others(28): Show c.-3893_-3877dupAAAAAAAAAAAAAAAAA	EXOSC1	ENSG00000171311.13	transcript	ENST00000370902.8	protein_coding		3856		chr10	TogoVar
EXPH5_chr11_108500435_108598768	108532366	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0188 a0001c0001t0002g0188	1	258	0.0039	17	c.444 others(34): Show c.444-4183_444-4182insATATATATATATATATA	EXPH5	ENSG00000110723.12	transcript	ENST00000265843.9	protein_coding	3/5			chr11	TogoVar
EXPH5_chr11_108500435_108598768	108532367	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01070.hp1 HG01361.hp1 others(5): Show HG00280.hp2 HG01070.hp1 HG01361.hp1 HG02027.hp2 HG02735.hp2 HG02738.hp2 HG03654.hp1 NA18960.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0001 a0003c0003t0002 a0001c0001t0002 a0003c0003t0001 a0003c0003t0002	a0001c0001t0002g0129 a0001c0001t0002g0141 a0001c0001t0002g0143 others(5): Show a0001c0001t0002g0129 a0001c0001t0002g0141 a0001c0001t0002g0143 a0001c0001t0002g0185 a0001c0001t0002g0187 a0003c0003t0001g0214 a0003c0003t0002g0272 a0003c0003t0002g0288	8	249	0.0321	17	c.444 others(34): Show c.444-4184_444-4183insTATATATATATATATAT	EXPH5	ENSG00000110723.12	transcript	ENST00000265843.9	protein_coding	3/5			chr11	TogoVar
EXT1_chr8_117789490_118116826	117867260	G G	GAAAAAAA others(10): Show GAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04199.hp2 NA18950.hp2 others(1): Show HG04184.hp1 HG04199.hp2 NA18950.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0005 a0001c0001t0007 a0001c0002t0002 others(1): Show a0001c0001t0005 a0001c0001t0007 a0001c0002t0002 a0001c0005t0053	a0001c0001t0005g0036 a0001c0001t0007g0142 a0001c0002t0002g0045 others(1): Show a0001c0001t0005g0036 a0001c0001t0007g0142 a0001c0002t0002g0045 a0001c0005t0053g0070	4	85	0.0471	17	c.963 others(36): Show c.963-30060_963-30059insTTTTTTTTTTTTTTTTT	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EXT2_chr11_44090678_44256962	44119124	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	220	0.0045	17	c.743 others(34): Show c.743+4823_743+4824insATATATATATATATATA	EXT2	ENSG00000151348.16	transcript	ENST00000533608.7	protein_coding	4/13			chr11	TogoVar
EYA2_chr20_46889843_47193844	47182628	T T	TCAAAAAA others(10): Show TCAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03486.hp1 HG02886.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0173 a0001c0003t0001g0098 a0001c0001t0001g0173 a0001c0003t0001g0098	2	69	0.0290	17	c.143 others(34): Show c.1436-663_1436-662insCAAAAAAAAAAAAAAAA	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	14/15			chr20	TogoVar
EYA3_chr1_27965344_28093610	28038439	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	166	0.0060	17	c.224 others(32): Show c.224+383_224+399dupTTTTTTTTTTTTTTTTT	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	5/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28073127	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	98	0.0102	17	c.-68 others(36): Show c.-68-15034_-68-15033insATATATATATATATATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28073127	A A	ATATATAT others(10): Show ATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0322 a0001c0001t0001g0322	1	98	0.0102	17	c.-68 others(36): Show c.-68-15034_-68-15033insAAATATATATATATATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28073127	A A	ATATATAT others(10): Show ATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01515.hp2 HG01993.hp2 others(2): Show HG01169.hp1 HG01515.hp2 HG01993.hp2 HG02735.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0015 a0001c0001t0001 a0001c0001t0003 a0001c0001t0015	a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0213 others(2): Show a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0213 a0001c0001t0003g0035 a0001c0001t0015g0239	5	102	0.0490	17	c.-68 others(36): Show c.-68-15034_-68-15033insAAAAATATATATATATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28073128	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG03225.hp1 NA18972.hp1 others(1): Show HG02523.hp2 HG03225.hp1 NA18972.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0325 a0001c0001t0004g0329 a0001c0001t0004g0356 others(1): Show a0001c0001t0004g0325 a0001c0001t0004g0329 a0001c0001t0004g0356 a0001c0001t0004g0384	4	353	0.0113	17	c.-68 others(36): Show c.-68-15035_-68-15034insTATATATATATATATAT	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28084595	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0300 a0001c0001t0003g0300	1	273	0.0037	17	c.-69 others(34): Show c.-69+3928_-69+3929insATATATATATATATATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28084595	A A	ATATATAT others(10): Show ATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0063 a0001c0001t0003g0063	1	273	0.0037	17	c.-69 others(34): Show c.-69+3928_-69+3929insAAAAAAATATATATATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28084596	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0089 a0001c0001t0018g0089	1	353	0.0028	17	c.-69 others(34): Show c.-69+3927_-69+3928insTATATATATATATATAT	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA4_chr6_133236357_133537128	133428911	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0219 a0002c0002t0005g0219	1	28	0.0357	17	c.84- others(34): Show c.84-17704_84-17688dupTTTTTTTTTTTTTTTTT	EYA4	ENSG00000112319.21	transcript	ENST00000355286.12	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
EYA4_chr6_133236357_133537128	133439049	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01074.hp1 HG01099.hp1 others(4): Show HG01069.hp1 HG01074.hp1 HG01099.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0023 a0001c0001t0001 a0002c0002t0001 a0002c0002t0023	a0001c0001t0001g0032 a0001c0001t0001g0211 a0002c0002t0001g0016 others(4): Show a0001c0001t0001g0032 a0001c0001t0001g0211 a0002c0002t0001g0016 a0002c0002t0001g0061 a0002c0002t0001g0167 a0002c0002t0001g0173 a0002c0002t0023g0204	7	32	0.2188	17	c.84- others(32): Show c.84-7570_84-7554dupAAAAAAAAAAAAAAAAA	EYA4	ENSG00000112319.21	transcript	ENST00000355286.12	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
EYS_chr6_63714980_65712226	63727735	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0004 a0004	a0004c0024 a0004c0024	a0004c0024t0001 a0004c0024t0001	a0004c0024t0001g0001 a0004c0024t0001g0001	1	16	0.0625	17	c.807 others(36): Show c.8072-1056_8072-1055insATATATATATATATATA	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	41/42			chr6	TogoVar
EYS_chr6_63714980_65712226	63727737	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0021 a0021	a0021c0007 a0021c0007	a0021c0007t0001 a0021c0007t0001	a0021c0007t0001g0009 a0021c0007t0001g0009	1	2	0.5000	17	c.807 others(36): Show c.8072-1058_8072-1057insATATATATATATATATA	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	41/42			chr6	TogoVar
EYS_chr6_63714980_65712226	63828380	G G	GAAATAGG others(10): Show GAAATAGGAGATGTTATA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02451.hp1 HG02622.hp1 others(3): Show HG01169.hp2 HG02451.hp1 HG02622.hp1 HG02809.hp2 HG02965.hp2 HG03195.hp2	a0001 a0005 a0007 others(2): Show a0001 a0005 a0007 a0009 a0019	a0001c0002 a0001c0019 a0005c0011 others(3): Show a0001c0002 a0001c0019 a0005c0011 a0007c0006 a0009c0013 a0019c0023	a0001c0002t0002 a0001c0019t0001 a0005c0011t0002 others(3): Show a0001c0002t0002 a0001c0019t0001 a0005c0011t0002 a0007c0006t0001 a0009c0013t0001 a0019c0023t0001	a0001c0002t0002g0019 a0001c0019t0001g0006 a0005c0011t0002g0018 others(3): Show a0001c0002t0002g0019 a0001c0019t0001g0006 a0005c0011t0002g0018 a0007c0006t0001g0004 a0009c0013t0001g0017 a0019c0023t0001g0010	6	24	0.2500	17	c.722 others(38): Show c.7229-22009_7229-22008insTATAACATCTCCTATTT	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	36/42			chr6	TogoVar
EYS_chr6_63714980_65712226	64169431	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0014 a0014	a0014c0003 a0014c0003	a0014c0003t0001 a0014c0003t0001	a0014c0003t0001g0016 a0014c0003t0001g0016	1	7	0.1429	17	c.642 others(38): Show c.6424+61160_6424+61161insAAAAAAAAAAAAAAAAA	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	31/42			chr6	TogoVar
EYS_chr6_63714980_65712226	64249063	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02809.hp2 HG02965.hp1 HG02622.hp1 HG02809.hp2 HG02965.hp1	a0007 a0009 a0013 a0007 a0009 a0013	a0007c0006 a0009c0013 a0013c0005 a0007c0006 a0009c0013 a0013c0005	a0007c0006t0001 a0009c0013t0001 a0013c0005t0001 a0007c0006t0001 a0009c0013t0001 a0013c0005t0001	a0007c0006t0001g0004 a0009c0013t0001g0017 a0013c0005t0001g0014 a0007c0006t0001g0004 a0009c0013t0001g0017 a0013c0005t0001g0014	3	9	0.3333	17	c.619 others(38): Show c.6192-18256_6192-18240dupTTTTTTTTTTTTTTTTT	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	30/42			chr6	TogoVar
EYS_chr6_63714980_65712226	64506908	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03098.hp2 HG02965.hp1 HG03098.hp2	a0013 a0017 a0013 a0017	a0013c0005 a0017c0014 a0013c0005 a0017c0014	a0013c0005t0001 a0017c0014t0001 a0013c0005t0001 a0017c0014t0001	a0013c0005t0001g0014 a0017c0014t0001g0005 a0013c0005t0001g0014 a0017c0014t0001g0005	2	11	0.1818	17	c.564 others(38): Show c.5645-67573_5645-67557dupTTTTTTTTTTTTTTTTT	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	26/42			chr6	TogoVar
EZR_chr6_158760748_158824368	158765187	G G	GGGCGGGG others(10): Show GGGCGGGGGGCGGGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00673.hp2 HG00738.hp1 others(6): Show HG00642.hp1 HG00673.hp2 HG00738.hp1 HG01109.hp2 HG01884.hp2 HG02056.hp1 HG02258.hp2 HG03834.hp2 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0009 a0001c0001t0021 a0001c0001t0006 a0001c0001t0009 a0001c0001t0021	a0001c0001t0006g0258 a0001c0001t0006g0262 a0001c0001t0006g0263 others(6): Show a0001c0001t0006g0258 a0001c0001t0006g0262 a0001c0001t0006g0263 a0001c0001t0006g0265 a0001c0001t0006g0268 a0001c0001t0009g0281 a0001c0001t0009g0282 a0001c0001t0009g0285 a0001c0001t0021g0260	9	298	0.0302	17	c.17 others(28): Show c.1726_*1727insGCCCCCCGCCCCCCGCC	EZR	ENSG00000092820.19	transcript	ENST00000367075.4	protein_coding		560		chr6	TogoVar
F10_chr13_113117799_113154529	113148345	A A	AAATATAT others(10): Show AAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0032 a0001c0002t0001g0032	1	187	0.0053	17	c.866 others(32): Show c.866-570_866-569insATATATATATATATATA	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
F10_chr13_113117799_113154529	113148345	A A	AATTATAT others(10): Show AATTATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0253 a0001c0002t0001g0253	1	187	0.0053	17	c.866 others(32): Show c.866-569_866-568insTATATATATATATATAT	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
F10_chr13_113117799_113154529	113148345	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0330 a0001c0002t0001g0330	1	187	0.0053	17	c.866 others(32): Show c.866-571_866-570insTATATATATATATATAT	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding	7/7			chr13	TogoVar
F10_chr13_113117799_113154529	113154196	G G	GAGGAGGG others(10): Show GAGGAGGGGCGCGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0362 a0001c0002t0001g0362	1	334	0.0030	17	c.46 others(28): Show c.4679_*4680insAGGAGGGGCGCGGGGGA	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding		4668		chr13	TogoVar
F10_chr13_113117799_113154529	113154196	G G	GAGGCGGG others(10): Show GAGGCGGGGCGCGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0234 a0001c0002t0001g0234	1	334	0.0030	17	c.46 others(28): Show c.4679_*4680insAGGCGGGGCGCGGGGGA	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding		4668		chr13	TogoVar
F10_chr13_113117799_113154529	113154245	G G	GGCAGGGG others(10): Show GGCAGGGGCACGTGACGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00733.hp1 HG01106.hp1 others(17): Show HG00408.hp2 HG00733.hp1 HG01106.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01978.hp2 HG02074.hp2 HG02148.hp1 HG02451.hp1 HG02738.hp2 HG03453.hp2 HG03516.hp1 HG03688.hp2 NA18975.hp1 NA19030.hp1 NA19063.hp1 NA19064.hp1 NA19080.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0029 others(17): Show a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0029 a0001c0001t0001g0060 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0092 a0001c0001t0001g0108 a0001c0001t0001g0135 a0001c0001t0001g0142 a0001c0001t0001g0170 a0001c0001t0001g0183 a0001c0001t0001g0187 a0001c0001t0001g0221 a0001c0001t0001g0231 a0001c0001t0001g0251 a0001c0001t0001g0286 a0001c0001t0001g0343 a0001c0001t0001g0352 a0001c0001t0001g0356	20	362	0.0552	17	c.47 others(28): Show c.4728_*4729insGCAGGGGCACGTGACGC	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding		4717		chr13	TogoVar
F10_chr13_113117799_113154529	113154308	C C	CGGGGCGC others(10): Show CGGGGCGCGGGGGAGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0307 a0001c0002t0001g0307	1	408	0.0025	17	c.47 others(28): Show c.4791_*4792insGGGGCGCGGGGGAGGCG	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding		4780		chr13	TogoVar

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