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
EIF3E_chr8_108196216_108253717	108204746	T T	TATATATA others(13): Show TATATATATATATATATATAG	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0158 a0001c0001t0002g0158	1	348	0.0029	20	c.106 others(39): Show c.1062-1244_1062-1243insCTATATATATATATATATAT	EIF3E	ENSG00000104408.11	transcript	ENST00000220849.10	protein_coding	10/12			chr8	TogoVar
EIF3H_chr8_116637130_116760823	116653348	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01981.hp1 HG02257.hp2 others(24): Show HG01167.hp2 HG01981.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02602.hp1 HG02622.hp2 HG02647.hp2 HG02738.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02965.hp2 HG02970.hp2 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG03490.hp1 HG03540.hp2 HG03579.hp2 NA18906.hp2 NA18969.hp1 NA18979.hp2 NA19030.hp1 NA19055.hp2 NA19064.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0002c0002t0002	a0001c0001t0001g0214 a0001c0001t0001g0219 a0001c0001t0001g0221 others(24): Show a0001c0001t0001g0214 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0225 a0001c0001t0001g0235 a0001c0001t0001g0239 a0001c0001t0001g0245 a0001c0001t0001g0329 a0001c0001t0002g0252 a0001c0001t0002g0273 a0001c0001t0002g0310 a0001c0001t0006g0082 a0001c0001t0006g0089 a0001c0001t0006g0090 a0001c0001t0006g0091 a0001c0001t0006g0092 a0001c0001t0006g0094 a0001c0001t0006g0095 a0001c0001t0006g0096 a0001c0001t0006g0098 a0001c0001t0006g0099 a0001c0001t0006g0100 a0001c0001t0009g0155 a0001c0001t0009g0156 a0001c0001t0011g0004 a0001c0001t0011g0005 a0002c0002t0002g0260	27	336	0.0804	20	c.707 others(37): Show c.707+2488_707+2507dupGTGTGTGTGTGTGTGTGTGT	EIF3H	ENSG00000147677.12	transcript	ENST00000521861.6	protein_coding	5/7			chr8	TogoVar
EIF3K_chr19_38614188_38641954	38637325	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02809.hp2 HG02965.hp1 others(1): Show HG02630.hp1 HG02809.hp2 HG02965.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0137 a0001c0001t0001g0190 others(1): Show a0001c0001t0001g0045 a0001c0001t0001g0137 a0001c0001t0001g0190 a0001c0001t0001g0197	4	400	0.0100	20	c.40 others(29): Show c.405_*406insTTTTTTTTTTTTTTTTTTTT	EIF3K	ENSG00000178982.10	transcript	ENST00000248342.9	protein_coding		372		chr19	TogoVar
EIF3L_chr22_37844419_37894407	37868634	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	318	0.0031	20	c.580 others(37): Show c.580-1536_580-1517dupTTTTTTTTTTTTTTTTTTTT	EIF3L	ENSG00000100129.18	transcript	ENST00000652021.1	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
EIF4A1_chr17_7567825_7584006	7571900	T T	TATATATA others(13): Show TATATATATATATATATAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0003 a0001c0003t0002g0003	1	436	0.0023	20	c.-94 others(29): Show c.-942_-941insATATATATATATATATAAAA	EIF4A1	ENSG00000161960.16	transcript	ENST00000293831.13	protein_coding		924		chr17	TogoVar
EIF4A3_chr17_80129369_80152128	80146992	C C	CGCCGCTG others(13): Show CGCCGCTGCCGACCTCGCTGT	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0121 a0001c0001t0049g0121	1	420	0.0024	20	c.-32 others(27): Show c.-32_-31insACAGCGAGGTCGGCAGCGGC	EIF4A3	ENSG00000141543.12	transcript	ENST00000649764.2	protein_coding	1/12	32		chr17	TogoVar
EIF4A3_chr17_80129369_80152128	80147009	C C	CTGCCGCT others(13): Show CTGCCGCTGCCGACCTCGCTG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0162 a0001c0001t0056g0162	1	420	0.0024	20	c.-68 others(27): Show c.-68_-49dupCAGCGAGGTCGGCAGCGGCA	EIF4A3	ENSG00000141543.12	transcript	ENST00000649764.2	protein_coding	1/12	49		chr17	TogoVar
EIF4A3_chr17_80129369_80152128	80147047	C C	CTGCCGCT others(13): Show CTGCCGCTGCCGACCTCGCCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0072 a0001c0001t0072	a0001c0001t0072g0209 a0001c0001t0072g0209	1	420	0.0024	20	c.-87 others(27): Show c.-87_-86insCGGCGAGGTCGGCAGCGGCA	EIF4A3	ENSG00000141543.12	transcript	ENST00000649764.2	protein_coding	1/12	87		chr17	TogoVar
EIF4A3_chr17_80129369_80152128	80147047	C C	CTGCCGCT others(13): Show CTGCCGCTGCCGACCTCGCTG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00423.hp1 others(104): Show HG00099.hp2 HG00280.hp1 HG00423.hp1 HG00544.hp2 HG00639.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01943.hp1 HG02015.hp2 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02145.hp2 HG02165.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02683.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02886.hp2 HG02965.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03225.hp1 HG03486.hp1 HG03491.hp2 HG03516.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18940.hp1 NA18941.hp1 NA18942.hp2 NA18953.hp2 NA18960.hp1 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18974.hp1 NA18977.hp2 NA18982.hp1 NA18982.hp2 NA18988.hp1 NA18990.hp2 NA18992.hp2 NA18993.hp1 NA18999.hp1 NA18999.hp2 NA19001.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp1 NA19012.hp1 NA19043.hp2 NA19057.hp2 NA19067.hp1 NA19075.hp2 NA19077.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA20129.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0030 a0001c0002t0008 a0001c0003t0031 a0001c0003t0052 a0001c0004t0002 a0001c0005t0002 a0001c0005t0031	a0001c0001t0002g0008 a0001c0001t0002g0010 a0001c0001t0002g0018 others(44): Show a0001c0001t0002g0008 a0001c0001t0002g0010 a0001c0001t0002g0018 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0136 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0154 a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0138 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0008g0009 a0001c0001t0008g0129 a0001c0001t0008g0132 a0001c0001t0008g0135 a0001c0001t0030g0055 a0001c0002t0008g0013 a0001c0002t0008g0051 a0001c0002t0008g0052 a0001c0002t0008g0143 a0001c0003t0031g0156 a0001c0003t0052g0155 a0001c0004t0002g0137 a0001c0005t0002g0142 a0001c0005t0031g0141	107	420	0.2548	20	c.-10 others(28): Show c.-106_-87dupCAGCGAGGTCGGCAGCGGCA	EIF4A3	ENSG00000141543.12	transcript	ENST00000649764.2	protein_coding	1/12	87		chr17	TogoVar
EIF4B_chr12_53001456_53047215	53019437	A A	ATATTTTT others(13): Show ATATTTTTTTTTTCTTTTTTT	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0352 a0001c0002t0003g0352	1	372	0.0027	20	c.360 others(35): Show c.360+432_360+433insATTTTTTTTTTCTTTTTTTT	EIF4B	ENSG00000063046.18	transcript	ENST00000262056.14	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
EIF4B_chr12_53001456_53047215	53027136	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(40): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00642.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01167.hp2 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG02132.hp1 HG02258.hp2 HG02280.hp2 HG02615.hp1 HG02735.hp2 HG03490.hp2 HG03688.hp1 HG03704.hp1 HG03831.hp1 HG03927.hp1 HG03927.hp2 NA18948.hp1 NA18978.hp2 NA18982.hp2 NA19001.hp1 NA19004.hp1 NA19009.hp2 NA19010.hp1 NA19054.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0006 a0001c0001t0016 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0016 a0002c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0012 others(39): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0054 a0001c0001t0001g0060 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0102 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0127 a0001c0001t0001g0133 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0148 a0001c0001t0001g0262 a0001c0001t0001g0269 a0001c0001t0006g0036 a0001c0001t0006g0246 a0001c0001t0016g0092 a0002c0004t0001g0105	43	372	0.1156	20	c.668 others(35): Show c.668-646_668-645insTTTTTTTTTTTTTTTTTTTT	EIF4B	ENSG00000063046.18	transcript	ENST00000262056.14	protein_coding	6/14			chr12	TogoVar
EIF4B_chr12_53001456_53047215	53027137	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	372	0.0027	20	c.668 others(35): Show c.668-644_668-625dupTTTTTTTTTTTTTTTTTTTT	EIF4B	ENSG00000063046.18	transcript	ENST00000262056.14	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
EIF4B_chr12_53001456_53047215	53030413	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01169.hp2 HG01361.hp1 others(16): Show HG00438.hp2 HG01169.hp2 HG01361.hp1 HG01884.hp2 HG01928.hp1 HG01934.hp1 HG02004.hp1 HG02071.hp2 HG02300.hp2 HG02602.hp2 HG02735.hp1 HG03704.hp1 HG03834.hp1 HG03834.hp2 NA18943.hp2 NA18982.hp1 NA18991.hp2 NA20752.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 a0001c0001t0001 a0001c0001t0002 a0001c0001t0014	a0001c0001t0001g0044 a0001c0001t0001g0053 a0001c0001t0001g0066 others(16): Show a0001c0001t0001g0044 a0001c0001t0001g0053 a0001c0001t0001g0066 a0001c0001t0001g0082 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0098 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0002g0162 a0001c0001t0002g0167 a0001c0001t0002g0169 a0001c0001t0002g0194 a0001c0001t0002g0216 a0001c0001t0002g0225 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0251 a0001c0001t0014g0071	19	372	0.0511	20	c.979 others(37): Show c.979+2231_979+2250dupTTTTTTTTTTTTTTTTTTTT	EIF4B	ENSG00000063046.18	transcript	ENST00000262056.14	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
EIF4E3_chr3_71670414_71730402	71686543	A A	AGTGTGTG others(13): Show AGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0253 a0001c0001t0005g0253	1	398	0.0025	20	c.629 others(37): Show c.629-1835_629-1816dupACACACACACACACACACAC	EIF4E3	ENSG00000163412.13	transcript	ENST00000425534.8	protein_coding	6/6			chr3	TogoVar
EIF4E3_chr3_71670414_71730402	71729798	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp1 HG03453.hp1 NA18941.hp1 HG02071.hp1 HG03453.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0020 a0001c0001t0001 a0001c0001t0013 a0001c0001t0020	a0001c0001t0001g0113 a0001c0001t0013g0160 a0001c0001t0020g0277 a0001c0001t0001g0113 a0001c0001t0013g0160 a0001c0001t0020g0277	3	398	0.0075	20	c.-44 others(31): Show c.-4451_-4432dupCACACACACACACACACACA	EIF4E3	ENSG00000163412.13	transcript	ENST00000425534.8	protein_coding		4397		chr3	TogoVar
EIF4ENIF1_chr22_31434367_31494842	31441550	G G	GAAAAAAA others(13): Show GAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0281 a0001c0001t0002g0281	1	366	0.0027	20	c.255 others(37): Show c.2551+204_2551+223dupTTTTTTTTTTTTTTTTTTTT	EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	17/18			chr22	TogoVar
EIF4ENIF1_chr22_31434367_31494842	31464699	A A	AAAAAAAA others(13): Show AAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0353 a0001c0001t0001g0353	1	366	0.0027	20	c.299 others(35): Show c.299-733_299-732insATATATATATATATTTTTTT	EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	4/18			chr22	TogoVar
EIF4E_chr4_98874276_98934133	98896224	A A	AAAATAAA others(13): Show AAAATAAAATAAAATAAAATT	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA18522.hp2 HG03471.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0181 a0001c0001t0001g0183	2	300	0.0067	20	c.126 others(37): Show c.126-4893_126-4892insAATTTTATTTTATTTTATTT	EIF4E	ENSG00000151247.13	transcript	ENST00000450253.7	protein_coding	2/6			chr4	TogoVar
EIF4G3_chr1_20801479_21181897	20863378	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG03139.hp1 HG01952.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0004 a0001c0001t0007	a0001c0001t0004g0221 a0001c0001t0007g0041 a0001c0001t0004g0221 a0001c0001t0007g0041	2	312	0.0064	20	c.300 others(39): Show c.3007-1066_3007-1047dupTTTTTTTTTTTTTTTTTTTT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	22/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	20943967	A A	AGTGTGTG others(13): Show AGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA19089.hp1 HG02040.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0028 a0001c0001t0003g0254 a0001c0001t0003g0028 a0001c0001t0003g0254	2	312	0.0064	20	c.824 others(37): Show c.824-1638_824-1637insACACACACACACACACACAC	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	13/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	20989056	A A	AGGAGGGG others(13): Show AGGAGGGGAGGGGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA19005.hp1 NA19065.hp2 HG03209.hp2 NA19005.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0021 a0001c0001t0011 a0001c0001t0021	a0001c0001t0011g0275 a0001c0001t0011g0277 a0001c0001t0021g0276 a0001c0001t0011g0275 a0001c0001t0011g0277 a0001c0001t0021g0276	3	312	0.0096	20	c.178 others(37): Show c.178-6668_178-6649dupCCTCCCCTCCCCTCCCCTCC	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	7/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21068375	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0093 a0001c0001t0019g0093	1	312	0.0032	20	c.-19 others(41): Show c.-195-17401_-195-17382dupTTTTTTTTTTTTTTTTTTTT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	3/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21117736	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01168.hp1 HG01358.hp1 others(12): Show HG01106.hp2 HG01168.hp1 HG01358.hp1 HG02027.hp2 HG02135.hp2 HG02622.hp1 HG03195.hp2 HG03453.hp1 NA18943.hp1 NA18950.hp2 NA18962.hp2 NA19009.hp2 NA19074.hp2 NA19077.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008	a0001c0001t0001g0016 a0001c0001t0001g0136 a0001c0001t0001g0138 others(12): Show a0001c0001t0001g0016 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0166 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0177 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0003g0028 a0001c0001t0006g0150 a0001c0001t0006g0152 a0001c0001t0006g0154 a0001c0001t0006g0155 a0001c0001t0008g0304	15	312	0.0481	20	c.-27 others(41): Show c.-271-28543_-271-28524dupTTTTTTTTTTTTTTTTTTTT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	2/36			chr1	TogoVar
EIPR1_chr2_3183970_3382818	3237221	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	250	0.0040	20	c.416 others(39): Show c.416+20058_416+20077dupGTGTGTGTGTGTGTGTGTGT	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3246857	A A	AAGGGAGG others(13): Show AAGGGAGGGAAGGAGGAAGGG	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	250	0.0040	20	c.416 others(39): Show c.416+10441_416+10442insCCCTTCCTCCTTCCCTCCCT	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3246867	A A	AGGAGGGA others(13): Show AGGAGGGAGGGAAGGAGGGAG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03471.hp1 HG03453.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0109 a0001c0001t0001g0110	2	250	0.0080	20	c.416 others(39): Show c.416+10431_416+10432insCTCCCTCCTTCCCTCCCTCC	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3246879	G G	GGGAAGGA others(13): Show GGGAAGGAGGGAGGGAGGGAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02647.hp2 HG02965.hp1 HG02257.hp1 HG02647.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0004g0050 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0004g0050	3	250	0.0120	20	c.416 others(39): Show c.416+10419_416+10420insTTCCCTCCCTCCCTCCTTCC	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3341095	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0093 a0001c0002t0005g0093	1	250	0.0040	20	c.127 others(37): Show c.127-2966_127-2947dupTTTTTTTTTTTTTTTTTTTT	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	2/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3355812	T T	TAAATAAA others(13): Show TAAATAAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00621.hp1 HG00642.hp1 others(23): Show HG00280.hp1 HG00621.hp1 HG00642.hp1 HG01069.hp1 HG01099.hp1 HG01106.hp2 HG01123.hp2 HG01255.hp1 HG01255.hp2 HG01346.hp1 HG01981.hp1 HG02145.hp2 HG02451.hp2 HG02615.hp2 HG02630.hp2 HG02717.hp2 HG02723.hp2 HG02886.hp2 HG02895.hp2 HG03195.hp2 HG03540.hp2 HG03654.hp2 HG03942.hp2 NA18971.hp2 NA19030.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0006t0003	a0001c0001t0001g0014 a0001c0001t0001g0194 a0001c0001t0001g0227 others(23): Show a0001c0001t0001g0014 a0001c0001t0001g0194 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0245 a0001c0001t0002g0195 a0001c0001t0003g0196 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0234 a0001c0006t0003g0203	26	250	0.1040	20	c.43- others(35): Show c.43-1199_43-1180dupTATTTTATTTTATTTTATTT	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	1/8			chr2	TogoVar
ELAC2_chr17_12986612_13023027	13021115	T T	TTGCAGTG others(13): Show TTGCAGTGGCTGCTGGGTGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	400	0.0025	20	c.-31 others(31): Show c.-3169_-3168insGCCACCCAGCAGCCACTGCA	ELAC2	ENSG00000006744.19	transcript	ENST00000338034.9	protein_coding		3089		chr17	TogoVar
ELAC2_chr17_12986612_13023027	13022621	T T	TTTCTTTC others(13): Show TTTCTTTCTTTCTTTCTTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0031 a0002c0003t0007g0031	1	400	0.0025	20	c.-46 others(31): Show c.-4675_-4674insGGAAAGAAAGAAAGAAAGAA	ELAC2	ENSG00000006744.19	transcript	ENST00000338034.9	protein_coding		4595		chr17	TogoVar
ELAC2_chr17_12986612_13023027	13022650	C C	CTCTCTCT others(13): Show CTCTCTCTCTCTCCCTCTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0031 a0002c0002t0031	a0002c0002t0031g0171 a0002c0002t0031g0171	1	400	0.0025	20	c.-47 others(31): Show c.-4704_-4703insAAGAGAGGGAGAGAGAGAGA	ELAC2	ENSG00000006744.19	transcript	ENST00000338034.9	protein_coding		4624		chr17	TogoVar
ELAPOR1_chr1_109109115_109211781	109113451	A A	AGAGAGAG others(13): Show AGAGAGAGAGAGAGAGGGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp1 NA18974.hp2 NA18977.hp1 others(3): Show HG01952.hp1 NA18974.hp2 NA18977.hp1 NA18989.hp1 NA19058.hp1 NA20129.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0004c0008t0041	a0001c0001t0001g0073 a0001c0001t0002g0052 a0001c0001t0002g0055 others(3): Show a0001c0001t0001g0073 a0001c0001t0002g0052 a0001c0001t0002g0055 a0001c0001t0005g0050 a0001c0001t0005g0051 a0004c0008t0041g0059	6	230	0.0261	20	c.-73 others(29): Show c.-733_-732insGAGAGAGAGAGAGAGGGAGT	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding		663		chr1	TogoVar
ELAPOR1_chr1_109109115_109211781	109120395	T T	TTAAAATA others(13): Show TTAAAATAAAATAAAATAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01433.hp1 HG01516.hp1 others(8): Show HG01099.hp2 HG01433.hp1 HG01516.hp1 HG01517.hp2 HG02109.hp1 HG02145.hp1 HG02886.hp2 HG02896.hp2 HG02965.hp1 HG03540.hp2 NA18906.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0002c0005 others(3): Show a0001c0001 a0002c0003 a0002c0005 a0002c0010 a0002c0015 a0003c0004	a0001c0001t0001 a0002c0003t0024 a0002c0005t0016 others(3): Show a0001c0001t0001 a0002c0003t0024 a0002c0005t0016 a0002c0010t0008 a0002c0015t0017 a0003c0004t0029	a0001c0001t0001g0006 a0002c0003t0024g0001 a0002c0005t0016g0083 others(7): Show a0001c0001t0001g0006 a0002c0003t0024g0001 a0002c0005t0016g0083 a0002c0005t0016g0084 a0002c0010t0008g0002 a0002c0010t0008g0003 a0002c0010t0008g0004 a0002c0010t0008g0005 a0002c0015t0017g0082 a0003c0004t0029g0007	11	230	0.0478	20	c.153 others(37): Show c.153+6074_153+6093dupATAAAATAAAATAAAATAAA	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELAPOR1_chr1_109109115_109211781	109183590	T T	TTCCTTCC others(13): Show TTCCTTCCTTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00323.hp2 others(71): Show HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00642.hp2 HG00733.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp2 HG01074.hp2 HG01109.hp2 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01255.hp2 HG01433.hp1 HG01515.hp2 HG01516.hp2 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02015.hp2 HG02071.hp1 HG02083.hp1 HG02148.hp1 HG02148.hp2 HG02280.hp2 HG02293.hp2 HG02486.hp2 HG02615.hp2 HG02683.hp1 HG02735.hp1 HG02895.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03098.hp2 HG03139.hp2 HG03453.hp1 HG03471.hp2 HG03491.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 NA18959.hp1 NA18962.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18977.hp1 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19058.hp1 NA19060.hp2 NA19063.hp1 NA19081.hp1 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0007	a0001c0001 a0001c0002 a0001c0019 others(16): Show a0001c0001 a0001c0002 a0001c0019 a0001c0022 a0001c0032 a0001c0035 a0001c0039 a0001c0040 a0002c0003 a0002c0006 a0002c0009 a0002c0014 a0002c0015 a0002c0016 a0002c0028 a0002c0037 a0003c0026 a0004c0011 a0007c0041	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(27): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0019 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0019t0003 a0001c0022t0005 a0001c0032t0005 a0001c0035t0010 a0001c0039t0005 a0001c0040t0019 a0002c0003t0010 a0002c0003t0039 a0002c0006t0001 a0002c0006t0002 a0002c0006t0011 a0002c0009t0003 a0002c0009t0010 a0002c0014t0006 a0002c0015t0017 a0002c0016t0022 a0002c0028t0001 a0002c0037t0027 a0003c0026t0004 a0004c0011t0004 a0004c0011t0040 a0007c0041t0002	a0001c0001t0001g0008 a0001c0001t0001g0123 a0001c0001t0002g0018 others(71): Show a0001c0001t0001g0008 a0001c0001t0001g0123 a0001c0001t0002g0018 a0001c0001t0002g0029 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0055 a0001c0001t0002g0064 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0127 a0001c0001t0002g0130 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0005g0028 a0001c0001t0005g0031 a0001c0001t0005g0050 a0001c0001t0005g0051 a0001c0001t0005g0058 a0001c0001t0005g0115 a0001c0001t0005g0131 a0001c0001t0019g0019 a0001c0002t0001g0216 a0001c0002t0002g0148 a0001c0002t0002g0151 a0001c0002t0002g0160 a0001c0002t0002g0166 a0001c0002t0002g0174 a0001c0002t0002g0178 a0001c0002t0002g0183 a0001c0002t0002g0189 a0001c0002t0002g0192 a0001c0002t0002g0197 a0001c0002t0002g0212 a0001c0002t0002g0225 a0001c0002t0002g0226 a0001c0002t0003g0168 a0001c0002t0005g0149 a0001c0002t0005g0164 a0001c0002t0005g0177 a0001c0002t0005g0185 a0001c0002t0005g0227 a0001c0019t0003g0136 a0001c0022t0005g0132 a0001c0032t0005g0184 a0001c0035t0010g0198 a0001c0039t0005g0169 a0001c0040t0019g0170 a0002c0003t0010g0122 a0002c0003t0039g0112 a0002c0006t0001g0111 a0002c0006t0002g0133 a0002c0006t0002g0134 a0002c0006t0002g0135 a0002c0006t0002g0208 a0002c0006t0011g0100 a0002c0009t0003g0116 a0002c0009t0010g0143 a0002c0014t0006g0157 a0002c0015t0017g0082 a0002c0015t0017g0113 a0002c0016t0022g0076 a0002c0016t0022g0085 a0002c0028t0001g0072 a0002c0037t0027g0191 a0003c0026t0004g0077 a0004c0011t0004g0180 a0004c0011t0004g0187 a0004c0011t0040g0173 a0007c0041t0002g0156	74	230	0.3217	20	c.953 others(37): Show c.953-1444_953-1443insCTCCCTCCCTCCTTCCTTCC	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELAPOR2_chr7_86871906_87064654	86905070	A A	AGAAGGAA others(13): Show AGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18946.hp1 NA18954.hp1 others(1): Show NA18747.hp2 NA18946.hp1 NA18954.hp1 NA19074.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0009 a0001c0001 a0008c0009	a0001c0001t0001 a0008c0009t0013 a0001c0001t0001 a0008c0009t0013	a0001c0001t0001g0019 a0001c0001t0001g0126 a0001c0001t0001g0186 others(1): Show a0001c0001t0001g0019 a0001c0001t0001g0126 a0001c0001t0001g0186 a0008c0009t0013g0103	4	196	0.0204	20	c.255 others(39): Show c.2558+2580_2558+2599dupCTTCCTTCCTTCCTTCCTTC	ELAPOR2	ENSG00000164659.15	transcript	ENST00000450689.7	protein_coding	18/21			chr7	TogoVar
ELAPOR2_chr7_86871906_87064654	86924374	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	196	0.0051	20	c.139 others(39): Show c.1399+1134_1399+1153dupGTGTGTGTGTGTGTGTGTGT	ELAPOR2	ENSG00000164659.15	transcript	ENST00000450689.7	protein_coding	10/21			chr7	TogoVar
ELAPOR2_chr7_86871906_87064654	87052776	C C	CTTTTGTT others(13): Show CTTTTGTTTTGTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0108 a0001c0001t0010g0108	1	196	0.0051	20	c.189 others(37): Show c.189+6529_189+6548dupCAAAACAAAACAAAACAAAA	ELAPOR2	ENSG00000164659.15	transcript	ENST00000450689.7	protein_coding	1/21			chr7	TogoVar
ELAVL1_chr19_7953573_8010641	7957388	A A	AGAAAGAA others(13): Show AGAAAGAAAGAAAGAAGGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG01884.hp2 HG02055.hp1 others(3): Show HG00544.hp1 HG01884.hp2 HG02055.hp1 HG02630.hp1 HG03195.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0078 a0001c0001t0001g0081 others(2): Show a0001c0001t0001g0011 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0096 a0001c0001t0001g0126	6	276	0.0217	20	c.60 others(31): Show c.6094_*6095insCTTCCTTCTTTCTTTCTTTC	ELAVL1	ENSG00000066044.15	transcript	ENST00000407627.7	protein_coding		1184		chr19	TogoVar
ELAVL1_chr19_7953573_8010641	7957388	A A	AGAAAGAA others(13): Show AGAAAGAAGGAAGGAAGGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	276	0.0036	20	c.60 others(31): Show c.6094_*6095insCTTCCTTCCTTCCTTCTTTC	ELAVL1	ENSG00000066044.15	transcript	ENST00000407627.7	protein_coding		1184		chr19	TogoVar
ELAVL1_chr19_7953573_8010641	7957429	G G	GAAGGAAG others(13): Show GAAGGAAGGAAGGAAGGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG02451.hp2 HG02559.hp2 others(5): Show HG01261.hp2 HG02451.hp2 HG02559.hp2 HG02615.hp2 HG03688.hp2 NA18942.hp1 NA18961.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0001 a0001c0001t0003 a0001c0001t0006	a0001c0001t0001g0130 a0001c0001t0001g0142 a0001c0001t0001g0144 others(5): Show a0001c0001t0001g0130 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0003g0076 a0001c0001t0003g0153 a0001c0001t0006g0145 a0001c0001t0006g0160 a0001c0001t0006g0199	8	276	0.0290	20	c.60 others(31): Show c.6053_*6054insTCTTCCTTCCTTCCTTCCTT	ELAVL1	ENSG00000066044.15	transcript	ENST00000407627.7	protein_coding		1143		chr19	TogoVar
ELAVL2_chr9_23685104_23831240	23702343	T T	TGACTACA others(13): Show TGACTACAGAAGATCACTCCC	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0032 a0001c0002t0002g0032	1	352	0.0028	20	c.488 others(35): Show c.488-759_488-740dupGGGAGTGATCTTCTGTAGTC	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	4/6			chr9	TogoVar
ELAVL2_chr9_23685104_23831240	23735105	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02055.hp2 HG02165.hp1 others(11): Show HG00558.hp1 HG02055.hp2 HG02165.hp1 HG02486.hp2 HG02630.hp2 HG03688.hp1 HG03927.hp1 NA18955.hp1 NA18962.hp1 NA18992.hp1 NA18995.hp2 NA19062.hp2 NA19072.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0002t0002	a0001c0001t0001g0071 a0001c0001t0001g0105 a0001c0001t0001g0128 others(11): Show a0001c0001t0001g0071 a0001c0001t0001g0105 a0001c0001t0001g0128 a0001c0001t0001g0133 a0001c0001t0001g0141 a0001c0001t0001g0254 a0001c0001t0001g0306 a0001c0001t0003g0341 a0001c0001t0005g0262 a0001c0002t0002g0023 a0001c0002t0002g0025 a0001c0002t0002g0027 a0001c0002t0002g0031 a0001c0002t0002g0034	14	352	0.0398	20	c.230 others(37): Show c.230-4000_230-3981dupTTTTTTTTTTTTTTTTTTTT	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	2/6			chr9	TogoVar
ELAVL2_chr9_23685104_23831240	23759754	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01167.hp1 HG01169.hp1 others(8): Show HG01099.hp1 HG01167.hp1 HG01169.hp1 HG02074.hp2 HG02257.hp2 HG04199.hp1 NA18943.hp1 NA18992.hp2 NA19011.hp1 NA19011.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0002	a0001c0001t0001g0091 a0001c0001t0001g0114 a0001c0001t0001g0143 others(8): Show a0001c0001t0001g0091 a0001c0001t0001g0114 a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0003g0144 a0001c0001t0004g0049 a0001c0002t0002g0013 a0001c0002t0002g0024 a0001c0002t0002g0041	11	352	0.0313	20	c.229 others(37): Show c.229+2232_229+2251dupTATATATATATATATATATA	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	2/6			chr9	TogoVar
ELAVL2_chr9_23685104_23831240	23759754	T T	TTTTATAT others(13): Show TTTTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0023 a0001c0002t0002g0023	1	352	0.0028	20	c.229 others(37): Show c.229+2251_229+2252insTATATATATATATATATAAA	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	2/6			chr9	TogoVar
ELAVL2_chr9_23685104_23831240	23821756	C C	CCCGCGCC others(13): Show CCCGCGCCGGGCCGCGCCGCG	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0303 a0001c0001t0001g0303	1	352	0.0028	20	c.-16 others(37): Show c.-16+4049_-16+4050insCGCGGCGCGGCCCGGCGCGG	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	1/6			chr9	TogoVar
ELAVL2_chr9_23685104_23831240	23830601	T T	TACACACA others(13): Show TACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG00741.hp1 HG01074.hp2 others(19): Show HG00735.hp2 HG00741.hp1 HG01074.hp2 HG01081.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01975.hp1 HG02165.hp1 HG02451.hp2 HG02683.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03688.hp1 HG03831.hp2 HG03834.hp1 HG04184.hp2 NA18964.hp2 NA18970.hp2 NA18994.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0017 a0001c0001t0020	a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0062 others(19): Show a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0094 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0332 a0001c0001t0003g0341 a0001c0001t0005g0061 a0001c0001t0008g0132 a0001c0001t0017g0085 a0001c0001t0020g0063	22	352	0.0625	20	c.-48 others(31): Show c.-4812_-4811insGTGTGTGTGTGTGTGTGTGT	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding		4362		chr9	TogoVar
ELAVL3_chr19_11446326_11486046	11464123	G G	GTCTCTCT others(13): Show GTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03209.hp1 HG02976.hp2 HG03209.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0013 a0001c0004t0037 a0001c0004t0013 a0001c0004t0037	a0001c0004t0013g0031 a0001c0004t0037g0020 a0001c0004t0013g0031 a0001c0004t0037g0020	2	318	0.0063	20	c.333 others(37): Show c.333+2029_333+2048dupGAGAGAGAGAGAGAGAGAGA	ELAVL3	ENSG00000196361.10	transcript	ENST00000359227.8	protein_coding	3/6			chr19	TogoVar
ELAVL3_chr19_11446326_11486046	11464123	G G	GTCTCTCT others(13): Show GTCTCTCTCTGTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03130.hp2 HG02109.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0060 a0001c0001t0001g0055 a0001c0001t0001g0060	2	318	0.0063	20	c.333 others(37): Show c.333+2048_333+2049insGAGAGAGAGACAGAGAGAGA	ELAVL3	ENSG00000196361.10	transcript	ENST00000359227.8	protein_coding	3/6			chr19	TogoVar
ELAVL4_chr1_50103920_50208772	50119036	A A	AAAAGAAA others(13): Show AAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA19005.hp1 HG02622.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0003 a0001c0001t0002 a0001c0002t0003	a0001c0001t0002g0045 a0001c0002t0003g0175 a0001c0001t0002g0045 a0001c0002t0003g0175	2	276	0.0073	20	c.9+9 others(33): Show c.9+9878_9+9897dupGAAAGAAAGAAAGAAAGAAA	ELAVL4	ENSG00000162374.18	transcript	ENST00000371824.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar

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