Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ESRRB_chr14_76371137_76506837	76489480	C C	CACACACA others(16): Show CACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03927.hp1 HG01891.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0008 a0001c0001t0007 a0001c0001t0008	a0001c0001t0007g0126 a0001c0001t0008g0055 a0001c0001t0007g0126 a0001c0001t0008g0055	2	307	0.0065	23	c.851 others(40): Show c.851-1967_851-1966insACACACACACACACACACACACA	ESRRB	ENSG00000119715.15	transcript	ENST00000644823.1	protein_coding	5/6			chr14	TogoVar
ESS2_chr22_19125279_19149651	19134898	T T	TGCTCTGG others(16): Show TGCTCTGGATAGAGGAGCTGCCAC	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0068 a0001c0004t0004g0068	1	430	0.0023	23	c.115 others(40): Show c.1151+139_1151+161dupGTGGCAGCTCCTCTATCCAGAGC	ESS2	ENSG00000100056.12	transcript	ENST00000252137.11	protein_coding	9/9			chr22	TogoVar
ESYT3_chr3_138429616_138484925	138443756	G G	GTGTGTGT others(16): Show GTGTGTGTGTGTGTGTGTGTGACT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp2 HG01884.hp2 others(8): Show HG00544.hp2 HG00558.hp2 HG01884.hp2 HG03654.hp2 HG03704.hp1 NA18939.hp2 NA18945.hp1 NA18994.hp1 NA19012.hp2 NA19079.hp1 NA19083.hp1	a0002 a0003 a0006 a0002 a0003 a0006	a0002c0002 a0003c0003 a0006c0007 a0002c0002 a0003c0003 a0006c0007	a0002c0002t0001 a0003c0003t0001 a0003c0003t0006 others(1): Show a0002c0002t0001 a0003c0003t0001 a0003c0003t0006 a0006c0007t0001	a0002c0002t0001g0076 a0003c0003t0001g0014 a0003c0003t0001g0026 others(5): Show a0002c0002t0001g0076 a0003c0003t0001g0014 a0003c0003t0001g0026 a0003c0003t0001g0075 a0003c0003t0001g0080 a0003c0003t0001g0112 a0003c0003t0006g0077 a0006c0007t0001g0078	11	263	0.0418	23	c.328 others(40): Show c.328-8292_328-8291insTGTGTGTGTGTGTGTGTGTGACT	ESYT3	ENSG00000158220.14	transcript	ENST00000389567.9	protein_coding	1/22			chr3	TogoVar
ETF1_chr5_138501095_138548236	138501222	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0286 a0001c0001t0007g0286	1	26	0.0385	23	c.70 others(34): Show c.7082_*7083insTTTTTTTTTTTTTTTTTTTTTTT	ETF1	ENSG00000120705.13	transcript	ENST00000360541.10	protein_coding		4872		chr5	TogoVar
ETF1_chr5_138501095_138548236	138512225	A A	AAAAAAAA others(16): Show AAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02738.hp1 HG02683.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0121 a0001c0001t0001g0057 a0001c0001t0001g0121	2	227	0.0088	23	c.732 others(38): Show c.732+538_732+539insATATATATATATATATTTTTTTT	ETF1	ENSG00000120705.13	transcript	ENST00000360541.10	protein_coding	6/10			chr5	TogoVar
ETF1_chr5_138501095_138548236	138512225	A A	AAAAATAT others(16): Show AAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02015.hp2 NA19077.hp2 HG02015.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0063 a0001c0001t0001g0016 a0001c0001t0001g0063	2	227	0.0088	23	c.732 others(38): Show c.732+538_732+539insATATATATATATATATATATTTT	ETF1	ENSG00000120705.13	transcript	ENST00000360541.10	protein_coding	6/10			chr5	TogoVar
ETF1_chr5_138501095_138548236	138512259	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	231	0.0043	23	c.732 others(38): Show c.732+504_732+505insTATATATATATATATATATATAT	ETF1	ENSG00000120705.13	transcript	ENST00000360541.10	protein_coding	6/10			chr5	TogoVar
ETFA_chr15_76210353_76316469	76295936	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00733.hp1 HG00735.hp2 others(12): Show HG00673.hp2 HG00733.hp1 HG00735.hp2 HG01109.hp1 HG01167.hp2 HG01928.hp1 HG03710.hp2 NA18944.hp2 NA18945.hp2 NA18960.hp2 NA18989.hp2 NA19010.hp1 NA19054.hp2 NA19064.hp1 NA19080.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0004 a0001c0001t0002 a0002c0002t0004	a0001c0001t0002g0137 a0001c0001t0002g0150 a0001c0001t0002g0151 others(12): Show a0001c0001t0002g0137 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0157 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0176 a0001c0001t0002g0183 a0001c0001t0002g0195 a0001c0001t0002g0197 a0001c0001t0002g0217 a0001c0001t0002g0221 a0002c0002t0004g0256	15	31	0.4839	23	c.40- others(36): Show c.40-222_40-200dupAAAAAAAAAAAAAAAAAAAAAAA	ETFA	ENSG00000140374.17	transcript	ENST00000557943.6	protein_coding	1/11			chr15	TogoVar
ETFRF1_chr12_25190237_25210143	25202063	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01981.hp2 HG01123.hp1 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0051 a0001c0001t0003g0051	2	42	0.0476	23	c.-37 others(40): Show c.-37-1837_-37-1836insAAAAAAAAAAAAAAAAAAAAAAA	ETFRF1	ENSG00000205707.11	transcript	ENST00000381356.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
ETV1_chr7_13886229_13994666	13896743	G G	GAAAGAAA others(16): Show GAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0170 a0001c0001t0008g0170	1	39	0.0256	23	c.121 others(40): Show c.1213-657_1213-656insTTTCTTTCTTTCTTTCTTTCTTT	ETV1	ENSG00000006468.15	transcript	ENST00000430479.6	protein_coding	13/13			chr7	TogoVar
ETV2_chr19_35636745_35649871	35638908	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG02615.hp2 HG01255.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0001 a0001c0001t0001g0003	2	5	0.4000	23	c.-32 others(34): Show c.-3276_-3275insAAAAAAAAAAAAAAAAAAAAAAA	ETV2	ENSG00000105672.15	transcript	ENST00000402764.6	protein_coding		2836		chr19	TogoVar
ETV6_chr12_11644674_11900377	11883276	C C	CTTCTTCT others(16): Show CTTCTTCTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01516.hp1 NA21309.hp1 HG01516.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0063 a0001c0002t0002 a0001c0002t0063	a0001c0002t0002g0177 a0001c0002t0063g0102 a0001c0002t0002g0177 a0001c0002t0063g0102	2	16	0.1250	23	c.101 others(42): Show c.1010-1167_1010-1166insCTTCTTTTTTTTTTTTTTTTTTT	ETV6	ENSG00000139083.11	transcript	ENST00000396373.9	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
EVA1A_chr2_75487318_75565939	75532159	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0036 a0001c0002t0036	a0001c0002t0036g0287 a0001c0002t0036g0287	1	138	0.0072	23	c.-19 others(42): Show c.-191-9695_-191-9673dupTTTTTTTTTTTTTTTTTTTTTTT	EVA1A	ENSG00000115363.14	transcript	ENST00000393913.8	protein_coding	1/3			chr2	TogoVar
EVA1A_chr2_75487318_75565939	75555337	C C	CTCTCTCT others(16): Show CTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	372	0.0027	23	c.-19 others(42): Show c.-192+5342_-192+5343insAGAGAGAGAGAGAGAGAGAGAGA	EVA1A	ENSG00000115363.14	transcript	ENST00000393913.8	protein_coding	1/3			chr2	TogoVar
EVI5_chr1_92503696_92790108	92565948	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0120 a0001c0001t0005g0120	1	14	0.0714	23	c.207 others(42): Show c.2071-2212_2071-2211insTTTTTTTTTTTTTTTTTTTTTTT	EVI5	ENSG00000067208.17	transcript	ENST00000684568.2	protein_coding	18/19			chr1	TogoVar
EVI5_chr1_92503696_92790108	92669547	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp2 HG00438.hp1 others(22): Show HG00099.hp1 HG00423.hp2 HG00438.hp1 HG01192.hp2 HG01243.hp1 HG02040.hp2 HG02145.hp1 HG02559.hp1 HG02818.hp1 HG03041.hp2 HG03139.hp1 HG03195.hp2 HG03453.hp2 HG03579.hp2 HG03710.hp1 HG03942.hp2 HG04184.hp2 HG06807.hp1 NA18612.hp1 NA18906.hp1 NA18962.hp1 NA18982.hp1 NA19005.hp1 NA19030.hp1 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 a0001c0001t0034 a0001c0001t0049 a0004c0007t0001	a0001c0001t0001g0044 a0001c0001t0001g0061 a0001c0001t0001g0063 others(22): Show a0001c0001t0001g0044 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0073 a0001c0001t0001g0079 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0116 a0001c0001t0002g0060 a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0016g0103 a0001c0001t0016g0104 a0001c0001t0034g0106 a0001c0001t0049g0167 a0004c0007t0001g0089	25	52	0.4808	23	c.115 others(42): Show c.1159-3556_1159-3555insTTTTTTTTTTTTTTTTTTTTTTT	EVI5	ENSG00000067208.17	transcript	ENST00000684568.2	protein_coding	10/19			chr1	TogoVar
EVPLL_chr17_18372778_18394647	18373800	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG01168.hp1 HG01993.hp1 HG00558.hp1 HG01168.hp1 HG01993.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0002 a0002c0001t0001 a0001c0003t0002 a0002c0001t0001	a0001c0003t0002g0003 a0002c0001t0001g0001 a0002c0001t0001g0009 a0001c0003t0002g0003 a0002c0001t0001g0001 a0002c0001t0001g0009	3	26	0.1154	23	c.-42 others(34): Show c.-4220_-4219insAAAAAAAAAAAAAAAAAAAAAAA	EVPLL	ENSG00000214860.5	transcript	ENST00000399134.5	protein_coding		3977		chr17	TogoVar
EVX2_chr2_176072472_176088962	176084421	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0010 a0001c0001t0004g0010	1	106	0.0094	23	c.-64 others(32): Show c.-646_-645insAAAAAAAAAAAAAAAAAAAAAAA	EVX2	ENSG00000174279.5	transcript	ENST00000308618.5	protein_coding		460		chr2	TogoVar
EXD2_chr14_69186498_69249018	69220253	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0018 a0002c0002t0018	a0002c0002t0018g0173 a0002c0002t0018g0173	1	29	0.0345	23	c.334 others(40): Show c.334-8550_334-8528dupTTTTTTTTTTTTTTTTTTTTTTT	EXD2	ENSG00000081177.19	transcript	ENST00000685843.1	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
EXD3_chr9_137301896_137428162	137346238	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02615.hp2 HG02896.hp2 HG00741.hp1 HG02615.hp2 HG02896.hp2	a0003 a0005 a0003 a0005	a0003c0003 a0005c0007 a0003c0003 a0005c0007	a0003c0003t0001 a0005c0007t0001 a0003c0003t0001 a0005c0007t0001	a0003c0003t0001g0037 a0005c0007t0001g0002 a0005c0007t0001g0023 a0003c0003t0001g0037 a0005c0007t0001g0002 a0005c0007t0001g0023	3	39	0.0769	23	c.199 others(42): Show c.1998+1810_1998+1832dupTTTTTTTTTTTTTTTTTTTTTTT	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137408546	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02965.hp2 NA19043.hp1 HG02615.hp2 HG02965.hp2 NA19043.hp1	a0002 a0005 a0031 a0002 a0005 a0031	a0002c0002 a0005c0007 a0031c0034 a0002c0002 a0005c0007 a0031c0034	a0002c0002t0001 a0005c0007t0001 a0031c0034t0001 a0002c0002t0001 a0005c0007t0001 a0031c0034t0001	a0002c0002t0001g0011 a0005c0007t0001g0023 a0031c0034t0001g0067 a0002c0002t0001g0011 a0005c0007t0001g0023 a0031c0034t0001g0067	3	30	0.1000	23	c.-47 others(42): Show c.-47-13143_-47-13142insTTTTTTTTTTTTTTTTTTTTTTT	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	1/21			chr9	TogoVar
EXOC2_chr6_480154_698139	501206	A A	ATATATCT others(16): Show ATATATCTATATATTATATATATC	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA18955.hp2 HG02523.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0051 a0001c0001t0004g0141 a0001c0001t0001g0051 a0001c0001t0004g0141	2	165	0.0121	23	c.238 others(42): Show c.2381-1507_2381-1506insGATATATATAATATATAGATATA	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	575456	A A	ACTCCCTC others(16): Show ACTCCCTCTCCATCCTCTCCCTCG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(85): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01070.hp2 HG01081.hp2 HG01106.hp1 HG01123.hp1 HG01167.hp2 HG01175.hp1 HG01192.hp2 HG01255.hp1 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01517.hp2 HG01884.hp2 HG01952.hp2 HG02027.hp2 HG02055.hp1 HG02074.hp2 HG02080.hp1 HG02135.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02523.hp2 HG02602.hp1 HG02622.hp2 HG02738.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02970.hp2 HG03017.hp2 HG03453.hp2 HG03491.hp2 HG03492.hp1 HG03704.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04199.hp2 NA18522.hp1 NA18612.hp2 NA18942.hp2 NA18947.hp2 NA18948.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18962.hp1 NA18968.hp1 NA18969.hp2 NA18970.hp2 NA18972.hp2 NA18980.hp1 NA18982.hp1 NA18988.hp2 NA18992.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19003.hp1 NA19004.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19072.hp2 NA19075.hp1 NA19075.hp2 NA19086.hp2 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0024 a0001c0001t0026 a0001c0002t0002 a0001c0002t0004 a0001c0003t0001 a0001c0003t0009 a0001c0004t0002 a0001c0007t0002 a0003c0006t0004	a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0016 others(85): Show a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0034 a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0072 a0001c0001t0001g0085 a0001c0001t0001g0102 a0001c0001t0001g0121 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0138 a0001c0001t0001g0151 a0001c0001t0001g0177 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0203 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0261 a0001c0001t0002g0004 a0001c0001t0002g0014 a0001c0001t0002g0049 a0001c0001t0002g0146 a0001c0001t0002g0168 a0001c0001t0002g0239 a0001c0001t0003g0005 a0001c0001t0003g0042 a0001c0001t0003g0045 a0001c0001t0003g0074 a0001c0001t0003g0117 a0001c0001t0003g0122 a0001c0001t0003g0198 a0001c0001t0003g0241 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0257 a0001c0001t0003g0259 a0001c0001t0004g0011 a0001c0001t0004g0050 a0001c0001t0004g0076 a0001c0001t0004g0081 a0001c0001t0004g0140 a0001c0001t0004g0141 a0001c0001t0004g0145 a0001c0001t0004g0247 a0001c0001t0005g0024 a0001c0001t0005g0027 a0001c0001t0005g0075 a0001c0001t0005g0256 a0001c0001t0005g0258 a0001c0001t0006g0129 a0001c0001t0006g0255 a0001c0001t0010g0144 a0001c0001t0011g0268 a0001c0001t0014g0167 a0001c0001t0015g0019 a0001c0001t0024g0160 a0001c0001t0026g0269 a0001c0002t0002g0071 a0001c0002t0002g0187 a0001c0002t0002g0191 a0001c0002t0004g0250 a0001c0003t0001g0038 a0001c0003t0001g0062 a0001c0003t0009g0149 a0001c0004t0002g0156 a0001c0007t0002g0123 a0003c0006t0004g0236 a0003c0006t0004g0243 a0003c0006t0004g0244 a0003c0006t0004g0254	88	270	0.3259	23	c.131 others(42): Show c.1318+1278_1318+1300dupCGAGGGAGAGGATGGAGAGGGAG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	12/27			chr6	TogoVar
EXOC2_chr6_480154_698139	575525	G G	GCTCCCTC others(16): Show GCTCCCTCTCCATCCTCTCCCTCA	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA19043.hp1 HG02559.hp1 NA19043.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0013 a0001c0008t0013	a0001c0008t0013g0270 a0001c0008t0013g0271 a0001c0008t0013g0270 a0001c0008t0013g0271	2	270	0.0074	23	c.131 others(42): Show c.1318+1231_1318+1232insTGAGGGAGAGGATGGAGAGGGAG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	12/27			chr6	TogoVar
EXOC3L2_chr19_45207370_45250407	45239129	T T	TGTACCGA others(16): Show TGTACCGAGCACTTTGGGGTGAGC	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02486.hp1 HG02886.hp2 others(1): Show HG01071.hp2 HG02486.hp1 HG02886.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0002g0077 others(1): Show a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0002g0077 a0001c0001t0004g0273	4	354	0.0113	23	c.-16 others(36): Show c.-16-91_-16-69dupGCTCACCCCAAAGTGCTCGGTAC	EXOC3L2	ENSG00000283632.4	transcript	ENST00000413988.3	protein_coding	1/11			chr19	TogoVar
EXOC4_chr7_133248078_134070761	133516758	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02717.hp1 HG02055.hp2 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0003 a0001c0005t0012 a0001c0001t0003 a0001c0005t0012	a0001c0001t0003g0004 a0001c0005t0012g0024 a0001c0001t0003g0004 a0001c0005t0012g0024	2	3	0.6667	23	c.141 others(44): Show c.1417+36634_1417+36635insTTTTTTTTTTTTTTTTTTTTTTT	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC6B_chr2_72170984_72831033	72307161	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02622.hp1 HG01884.hp2 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0009 a0001c0002t0002 a0001c0002t0009	a0001c0002t0002g0064 a0001c0002t0009g0076 a0001c0002t0002g0064 a0001c0002t0009g0076	2	51	0.0392	23	c.219 others(44): Show c.2196+27785_2196+27786insAAAAAAAAAAAAAAAAAAAAAAA	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	20/21			chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72767808	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0080 a0001c0002t0005g0080	1	11	0.0909	23	c.114 others(42): Show c.114-26362_114-26340dupTTTTTTTTTTTTTTTTTTTTTTT	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	1/21			chr2	TogoVar
EXOC6_chr10_92843520_93064490	92858022	T T	TCCCCCCC others(16): Show TCCCCCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0167 a0004c0005t0002g0167	1	145	0.0069	23	c.101 others(40): Show c.101+9395_101+9396insCCCCCCCCCCCCCCCCCCCCCCC	EXOC6	ENSG00000138190.17	transcript	ENST00000260762.10	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
EXOC7_chr17_76076016_76108787	76077966	C C	CGGGGGGG others(16): Show CGGGGGGGGGGGGGGGGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0270 a0001c0002t0008g0270	1	79	0.0127	23	c.56 others(34): Show c.5681_*5682insCCCCCCCCCCCCCCCCCCCCCCC	EXOC7	ENSG00000182473.22	transcript	ENST00000589210.6	protein_coding		3049		chr17	TogoVar
EXOSC1_chr10_97430909_97451006	97449861	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	177	0.0056	23	c.-38 others(34): Show c.-3877_-3876insAAAAAAAAAAAAAAAAAAAAAAA	EXOSC1	ENSG00000171311.13	transcript	ENST00000370902.8	protein_coding		3856		chr10	TogoVar
EXOSC3_chr9_37774714_37790064	37777194	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	68	0.0147	23	c.34 others(34): Show c.3462_*3484dupTTTTTTTTTTTTTTTTTTTTTTT	EXOSC3	ENSG00000107371.14	transcript	ENST00000327304.10	protein_coding		2519		chr9	TogoVar
EXPH5_chr11_108500435_108598768	108532366	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0020 a0008c0009t0001g0020	1	258	0.0039	23	c.444 others(40): Show c.444-4183_444-4182insATATATATATATATATATATATA	EXPH5	ENSG00000110723.12	transcript	ENST00000265843.9	protein_coding	3/5			chr11	TogoVar
EXPH5_chr11_108500435_108598768	108532366	A A	ATATATAT others(16): Show ATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 NA19043.hp1 HG01255.hp1 NA19043.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0302 a0003c0003t0002g0303 a0003c0003t0002g0302 a0003c0003t0002g0303	2	259	0.0077	23	c.444 others(40): Show c.444-4183_444-4182insAAAAAAATATATATATATATATA	EXPH5	ENSG00000110723.12	transcript	ENST00000265843.9	protein_coding	3/5			chr11	TogoVar
EXT1_chr8_117789490_118116826	117870849	A A	ACACACAC others(16): Show ACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0018 a0001c0013t0018	a0001c0013t0018g0163 a0001c0013t0018g0163	1	190	0.0053	23	c.963 others(42): Show c.963-33649_963-33648insGTGTGTGTGTGTGTGTGTGTGTG	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EXT1_chr8_117789490_118116826	117874575	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01081.hp1 HG01515.hp1 others(11): Show HG00544.hp2 HG01081.hp1 HG01515.hp1 HG02015.hp1 HG02132.hp2 HG02145.hp1 HG03017.hp2 HG03239.hp1 HG03490.hp2 HG03491.hp1 HG03704.hp2 NA18957.hp1 NA18966.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0005 a0001c0001t0011 a0001c0001t0021 others(7): Show a0001c0001t0005 a0001c0001t0011 a0001c0001t0021 a0001c0001t0041 a0001c0001t0052 a0001c0002t0002 a0001c0002t0007 a0001c0002t0010 a0001c0002t0054 a0001c0006t0004	a0001c0001t0005g0100 a0001c0001t0005g0152 a0001c0001t0011g0095 others(11): Show a0001c0001t0005g0100 a0001c0001t0005g0152 a0001c0001t0011g0095 a0001c0001t0011g0096 a0001c0001t0021g0023 a0001c0001t0041g0033 a0001c0001t0052g0108 a0001c0002t0002g0059 a0001c0002t0002g0129 a0001c0002t0007g0124 a0001c0002t0007g0147 a0001c0002t0010g0149 a0001c0002t0054g0111 a0001c0006t0004g0020	14	82	0.1707	23	c.963 others(42): Show c.963-37375_963-37374insTTTTTTTTTTTTTTTTTTTTTTT	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EYA2_chr20_46889843_47193844	47148058	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	196	0.0051	23	c.978 others(40): Show c.978+4925_978+4926insAAAAAAAAAAAAAAAAAAAAAAA	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA3_chr1_27965344_28093610	28073127	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 NA18974.hp2 HG02647.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0006 a0001c0001t0003g0044 a0001c0001t0001g0006 a0001c0001t0003g0044	2	99	0.0202	23	c.-68 others(42): Show c.-68-15034_-68-15033insATATATATATATATATATATATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28073127	A A	ATATATAT others(16): Show ATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA19240.hp2 NA18522.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0094 a0001c0001t0008g0292 a0001c0001t0001g0094 a0001c0001t0008g0292	2	99	0.0202	23	c.-68 others(42): Show c.-68-15034_-68-15033insAAAAAAATATATATATATATATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28073128	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02293.hp1 NA18612.hp1 others(9): Show HG02155.hp1 HG02293.hp1 NA18612.hp1 NA18939.hp1 NA18952.hp1 NA18968.hp2 NA18969.hp1 NA18973.hp2 NA19010.hp2 NA19060.hp1 NA19067.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0338 a0001c0001t0004g0359 a0001c0001t0004g0360 others(9): Show a0001c0001t0004g0338 a0001c0001t0004g0359 a0001c0001t0004g0360 a0001c0001t0004g0361 a0001c0001t0004g0362 a0001c0001t0004g0363 a0001c0001t0004g0364 a0001c0001t0004g0372 a0001c0001t0004g0373 a0001c0001t0004g0376 a0001c0001t0004g0377 a0001c0001t0004g0387	12	361	0.0332	23	c.-68 others(42): Show c.-68-15035_-68-15034insTATATATATATATATATATATAT	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28084595	A A	ATATATAT others(16): Show ATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0147 a0001c0001t0002g0147	1	273	0.0037	23	c.-69 others(40): Show c.-69+3928_-69+3929insAAATATATATATATATATATATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA4_chr6_133236357_133537128	133294023	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	26	0.0385	23	c.33+ others(40): Show c.33+19210_33+19211insATATATATATATATATATATATA	EYA4	ENSG00000112319.21	transcript	ENST00000355286.12	protein_coding	2/19			chr6	TogoVar
EYA4_chr6_133236357_133537128	133342605	A A	ATATATTA others(16): Show ATATATTATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02895.hp1 HG02896.hp2 HG02723.hp1 HG02895.hp1 HG02896.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0012 a0002c0002t0003 a0001c0001t0012 a0002c0002t0003	a0001c0001t0012g0177 a0001c0001t0012g0178 a0002c0002t0003g0114 a0001c0001t0012g0177 a0001c0001t0012g0178 a0002c0002t0003g0114	3	229	0.0131	23	c.34- others(40): Show c.34-39787_34-39786insTATATTATATATATATATATATC	EYA4	ENSG00000112319.21	transcript	ENST00000355286.12	protein_coding	2/19			chr6	TogoVar
EYA4_chr6_133236357_133537128	133439049	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01978.hp1 HG03490.hp2 HG01975.hp1 HG01978.hp1 HG03490.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0043 a0002c0002t0001g0022 a0002c0002t0001g0209 a0001c0001t0001g0043 a0002c0002t0001g0022 a0002c0002t0001g0209	3	28	0.1071	23	c.84- others(38): Show c.84-7576_84-7554dupAAAAAAAAAAAAAAAAAAAAAAA	EYA4	ENSG00000112319.21	transcript	ENST00000355286.12	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
EYS_chr6_63714980_65712226	64274481	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0010 a0010	a0010c0015 a0010c0015	a0010c0015t0002 a0010c0015t0002	a0010c0015t0002g0023 a0010c0015t0002g0023	1	6	0.1667	23	c.619 others(44): Show c.6191+32488_6191+32489insAAAAAAAAAAAAAAAAAAAAAAA	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	30/42			chr6	TogoVar
EYS_chr6_63714980_65712226	65204918	C C	CTTTATAT others(16): Show CTTTATATATTCTAGAAGAATATA	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02630.hp1 HG01169.hp1 HG02630.hp1	a0004 a0008 a0004 a0008	a0004c0024 a0008c0001 a0004c0024 a0008c0001	a0004c0024t0001 a0008c0001t0001 a0004c0024t0001 a0008c0001t0001	a0004c0024t0001g0001 a0008c0001t0001g0013 a0004c0024t0001g0001 a0008c0001t0001g0013	2	14	0.1429	23	c.202 others(44): Show c.2023+90922_2023+90944dupTATATTCTTCTAGAATATATAAA	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	12/42			chr6	TogoVar
EYS_chr6_63714980_65712226	65519708	A A	ATATATAT others(16): Show ATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0019 a0019	a0019c0023 a0019c0023	a0019c0023t0001 a0019c0023t0001	a0019c0023t0001g0010 a0019c0023t0001g0010	1	8	0.1250	23	c.-33 others(44): Show c.-332-23716_-332-23715insAAAAAAAAATATATATATATATA	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	2/42			chr6	TogoVar
EZH2_chr7_148802383_148889291	148853715	A A	AGTATGTA others(16): Show AGTATGTACATGTTCAGTACACAC	intron_variant intron_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0072	1	378	0.0026	23	c.-7- others(38): Show c.-7-6433_-7-6411dupGTGTGTACTGAACATGTACATAC	EZH2	ENSG00000106462.12	transcript	ENST00000320356.7	protein_coding	1/19			chr7	TogoVar
F10_chr13_113117799_113154529	113148343	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0369 a0001c0002t0001g0369	1	387	0.0026	23	c.866 others(38): Show c.866-573_866-572insTATATATATATATATATATATAT	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding	7/7			chr13	TogoVar
F5_chr1_169506951_169591481	169556425	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02723.hp2 HG03471.hp2 others(1): Show HG02486.hp2 HG02723.hp2 HG03471.hp2 HG03486.hp2	a0004 a0010 a0013 others(1): Show a0004 a0010 a0013 a0037	a0004c0040 a0010c0012 a0013c0031 others(1): Show a0004c0040 a0010c0012 a0013c0031 a0037c0044	a0004c0040t0002 a0010c0012t0002 a0013c0031t0001 others(1): Show a0004c0040t0002 a0010c0012t0002 a0013c0031t0001 a0037c0044t0001	a0004c0040t0002g0296 a0010c0012t0002g0055 a0013c0031t0001g0057 others(1): Show a0004c0040t0002g0296 a0010c0012t0002g0055 a0013c0031t0001g0057 a0037c0044t0001g0012	4	14	0.2857	23	c.952 others(38): Show c.952+220_952+221insTTTTTTTTTTTTTTTTTTTTTTT	F5	ENSG00000198734.12	transcript	ENST00000367797.9	protein_coding	6/24			chr1	TogoVar

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