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
EFHC1_chr6_52415342_52502198	52493365	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00738.hp2 HG01175.hp2 HG01258.hp2 others(8): Show HG00738.hp2 HG01175.hp2 HG01258.hp2 HG02698.hp1 HG03041.hp2 HG03239.hp1 HG03471.hp1 HG03516.hp1 HG03579.hp1 NA18971.hp2 NA19030.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0009	a0001c0001 a0002c0002 a0004c0004 others(1): Show a0001c0001 a0002c0002 a0004c0004 a0009c0009	a0001c0001t0016 a0001c0001t0030 a0001c0001t0031 others(4): Show a0001c0001t0016 a0001c0001t0030 a0001c0001t0031 a0001c0001t0049 a0002c0002t0043 a0004c0004t0016 a0009c0009t0091	a0001c0001t0016g0138 a0001c0001t0016g0139 a0001c0001t0030g0039 others(8): Show a0001c0001t0016g0138 a0001c0001t0016g0139 a0001c0001t0030g0039 a0001c0001t0030g0048 a0001c0001t0031g0111 a0001c0001t0031g0134 a0001c0001t0049g0282 a0002c0002t0043g0144 a0002c0002t0043g0145 a0004c0004t0016g0192 a0009c0009t0091g0280	11	396	0.0278	30	c.10 others(41): Show c.1044_*1045insATATATATATATATATATATATATATATAT	EFHC1	ENSG00000096093.16	transcript	ENST00000371068.11	protein_coding	11/11	1045	INFO_REALIGN_3_PRIME	chr6	TogoVar
EFHC2_chrX_44142872_44348672	44187135	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01928.hp1 HG01978.hp1 others(4): Show HG01081.hp1 HG01928.hp1 HG01978.hp1 HG02258.hp1 HG02615.hp2 HG02723.hp2 NA18522.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0006 a0002c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0006 a0002c0002t0002 a0003c0003t0002	a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0103 others(4): Show a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0103 a0001c0001t0006g0078 a0002c0002t0002g0181 a0003c0003t0002g0061 a0003c0003t0002g0120	7	221	0.0317	30	c.175 others(49): Show c.1752-8572_1752-8571insTATATATATATATATATATATATATA TATA	EFHC2	ENSG00000183690.13	transcript	ENST00000420999.2	protein_coding	11/14			chrX	TogoVar
EFHC2_chrX_44142872_44348672	44187135	G G	GTGTATAT others(23): Show GTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	221	0.0045	30	c.175 others(49): Show c.1752-8572_1752-8571insTATATATATATATATATATATATATA TACA	EFHC2	ENSG00000183690.13	transcript	ENST00000420999.2	protein_coding	11/14			chrX	TogoVar
EFHD1_chr2_232628604_232687776	232677207	T T	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA19012.hp1 NA18981.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0004 a0001c0004t0004 a0001c0001t0004 a0001c0004t0004	a0001c0001t0004g0352 a0001c0004t0004g0143 a0001c0001t0004g0352 a0001c0004t0004g0143	2	382	0.0052	30	c.586 others(47): Show c.586-4373_586-4344dupACACACACACACACACACACACACACAC AC	EFHD1	ENSG00000115468.13	transcript	ENST00000264059.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
EFL1_chr15_82125233_82267734	82211595	G G	GACACACA others(23): Show GACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp2 HG01952.hp2 others(5): Show HG01516.hp2 HG01517.hp2 HG01952.hp2 HG02074.hp2 HG02293.hp2 HG04115.hp1 NA18906.hp2 NA19054.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0062 a0002c0002t0001g0068 a0002c0002t0001g0082 others(5): Show a0002c0002t0001g0062 a0002c0002t0001g0068 a0002c0002t0001g0082 a0002c0002t0001g0084 a0002c0002t0001g0092 a0002c0002t0001g0102 a0002c0002t0001g0179 a0002c0002t0001g0182	8	368	0.0217	30	c.175 others(49): Show c.1750+3121_1750+3122insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	EFL1	ENSG00000140598.16	transcript	ENST00000268206.12	protein_coding	15/19			chr15	TogoVar
EFNA5_chr5_107371894_107675937	107399318	C C	CGGAAAGG others(23): Show CGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02922.hp1 HG02145.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0082 a0001c0001t0003 a0001c0001t0082	a0001c0001t0003g0130 a0001c0001t0082g0012 a0001c0001t0003g0130 a0001c0001t0082g0012	2	190	0.0105	30	c.419 others(49): Show c.419-11577_419-11548dupTTTCCTTTCCTTTCCTTTCCTTTCCT TTCC	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	2/4			chr5	TogoVar
EFNA5_chr5_107371894_107675937	107476046	C C	CTATATAC others(23): Show CTATATACATATATATATATATATATATGTA	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0179 a0001c0001t0003g0179	1	190	0.0053	30	c.126 others(49): Show c.126-48538_126-48537insTACATATATATATATATATATATGTA TATA	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EFNA5_chr5_107371894_107675937	107476046	C C	CTATATAT others(23): Show CTATATATATATATATATATATATATATGTA	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0051 a0001c0001t0005g0051	1	190	0.0053	30	c.126 others(49): Show c.126-48538_126-48537insTACATATATATATATATATATATATA TATA	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EFNA5_chr5_107371894_107675937	107569373	A A	ATATATAT others(23): Show ATATATATATATATTTTTATGTATATGTGTG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02055.hp1 HG02486.hp1 others(9): Show HG01074.hp2 HG02055.hp1 HG02486.hp1 HG02486.hp2 HG02717.hp2 HG02818.hp2 HG03516.hp1 HG03540.hp1 NA18906.hp2 NA19043.hp1 NA19240.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0013 others(9): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0013 a0001c0001t0028 a0001c0001t0042 a0001c0001t0047 a0001c0001t0050 a0001c0001t0055 a0001c0001t0061 a0001c0001t0063 a0001c0001t0075 a0001c0001t0090	a0001c0001t0003g0068 a0001c0001t0004g0004 a0001c0001t0013g0113 others(9): Show a0001c0001t0003g0068 a0001c0001t0004g0004 a0001c0001t0013g0113 a0001c0001t0028g0101 a0001c0001t0042g0007 a0001c0001t0047g0086 a0001c0001t0050g0111 a0001c0001t0055g0095 a0001c0001t0061g0013 a0001c0001t0063g0100 a0001c0001t0075g0168 a0001c0001t0090g0039	12	190	0.0632	30	c.125 others(51): Show c.125+101115_125+101116insCACACATATACATAAAAATATATA TATATA	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EFNA5_chr5_107371894_107675937	107569383	T T	TTTTATGT others(23): Show TTTTATGTATATGTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02559.hp2 HG02572.hp1 others(15): Show HG01192.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02896.hp2 HG02922.hp1 HG03041.hp2 HG03225.hp1 HG03486.hp2 NA18522.hp1 NA18906.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(15): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0001t0018 a0001c0001t0019 a0001c0001t0025 a0001c0001t0034 a0001c0001t0040 a0001c0001t0044 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0057 a0001c0001t0059 a0001c0001t0067 a0001c0001t0069	a0001c0001t0001g0090 a0001c0001t0003g0130 a0001c0001t0004g0040 others(15): Show a0001c0001t0001g0090 a0001c0001t0003g0130 a0001c0001t0004g0040 a0001c0001t0011g0173 a0001c0001t0018g0110 a0001c0001t0019g0145 a0001c0001t0025g0115 a0001c0001t0034g0131 a0001c0001t0040g0186 a0001c0001t0044g0082 a0001c0001t0051g0025 a0001c0001t0052g0108 a0001c0001t0053g0036 a0001c0001t0054g0140 a0001c0001t0057g0177 a0001c0001t0059g0109 a0001c0001t0067g0175 a0001c0001t0069g0015	18	190	0.0947	30	c.125 others(51): Show c.125+101076_125+101105dupTATATATATATATACACACATATA CATAAA	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EFNA5_chr5_107371894_107675937	107569559	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATTTATA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0059 a0001c0001t0022g0059	1	190	0.0053	30	c.125 others(51): Show c.125+100929_125+100930insTATAAATATATATATATATATATA TATATA	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EFR3A_chr8_131899093_132018642	132014011	T T	TATATATA others(23): Show TATATATATATATATATATATATACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	412	0.0024	30	c.31 others(41): Show c.3116_*3117insATATATATATATATATATATATACACACAC	EFR3A	ENSG00000132294.15	transcript	ENST00000254624.10	protein_coding		370		chr8	TogoVar
EFR3A_chr8_131899093_132018642	132018174	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp2 HG03516.hp1 HG02300.hp2 HG03516.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0003c0004 a0001c0003 a0003c0004	a0001c0003t0003 a0003c0004t0008 a0001c0003t0003 a0003c0004t0008	a0001c0003t0003g0062 a0003c0004t0008g0095 a0001c0003t0003g0062 a0003c0004t0008g0095	2	412	0.0049	30	c.72 others(41): Show c.7279_*7280insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	EFR3A	ENSG00000132294.15	transcript	ENST00000254624.10	protein_coding		4533		chr8	TogoVar
EFR3B_chr2_25037076_25164135	25080283	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	306	0.0033	30	c.8-1 others(45): Show c.8-11014_8-11013insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	EFR3B	ENSG00000084710.14	transcript	ENST00000403714.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EGF_chr4_109907883_110018766	109932360	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp2 HG01358.hp2 others(23): Show HG01167.hp1 HG01167.hp2 HG01358.hp2 HG01496.hp1 HG01891.hp1 HG01934.hp1 HG02027.hp2 HG02080.hp1 HG02148.hp1 HG02293.hp1 HG02717.hp2 HG03239.hp1 HG03453.hp1 HG03491.hp2 HG03669.hp1 NA18522.hp2 NA18941.hp1 NA18942.hp1 NA18946.hp2 NA18949.hp2 NA18959.hp1 NA18963.hp1 NA18963.hp2 NA19076.hp1 NA19080.hp1 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0002 a0001c0001 a0001c0007 a0002c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(8): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0027 a0001c0001t0029 a0001c0007t0002 a0002c0002t0006 a0002c0002t0021	a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0068 others(23): Show a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0068 a0001c0001t0002g0072 a0001c0001t0002g0078 a0001c0001t0002g0082 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0004g0334 a0001c0001t0004g0366 a0001c0001t0004g0367 a0001c0001t0004g0368 a0001c0001t0006g0079 a0001c0001t0006g0086 a0001c0001t0006g0315 a0001c0001t0012g0376 a0001c0001t0013g0361 a0001c0001t0014g0232 a0001c0001t0027g0063 a0001c0001t0029g0243 a0001c0007t0002g0089 a0001c0007t0002g0104 a0002c0002t0006g0333 a0002c0002t0006g0345 a0002c0002t0006g0372 a0002c0002t0021g0342	26	388	0.0670	30	c.128 others(47): Show c.128-8569_128-8568insTATATATATATATATATATATATATATA TA	EGF	ENSG00000138798.13	transcript	ENST00000265171.10	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
EGF_chr4_109907883_110018766	109932376	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18947.hp2 NA18957.hp2 others(4): Show NA18939.hp2 NA18947.hp2 NA18957.hp2 NA18974.hp2 NA19064.hp2 NA19078.hp1 NA19090.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0033 a0002c0002 others(1): Show a0001c0001 a0001c0033 a0002c0002 a0008c0008	a0001c0001t0004 a0001c0001t0013 a0001c0033t0004 others(2): Show a0001c0001t0004 a0001c0001t0013 a0001c0033t0004 a0002c0002t0021 a0008c0008t0003	a0001c0001t0004g0326 a0001c0001t0004g0338 a0001c0001t0013g0344 others(4): Show a0001c0001t0004g0326 a0001c0001t0004g0338 a0001c0001t0013g0344 a0001c0033t0004g0336 a0002c0002t0021g0354 a0008c0008t0003g0348 a0008c0008t0003g0349	7	388	0.0180	30	c.128 others(47): Show c.128-8569_128-8568insTATATATATATATATATATATATATATA AA	EGF	ENSG00000138798.13	transcript	ENST00000265171.10	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
EGF_chr4_109907883_110018766	109932382	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02080.hp2 HG02735.hp1 others(1): Show HG00609.hp2 HG02080.hp2 HG02735.hp1 NA18979.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0008 a0003c0003t0005 a0003c0003t0008	a0003c0003t0005g0020 a0003c0003t0005g0037 a0003c0003t0008g0051 others(1): Show a0003c0003t0005g0020 a0003c0003t0005g0037 a0003c0003t0008g0051 a0003c0003t0008g0052	4	388	0.0103	30	c.128 others(47): Show c.128-8564_128-8563insATATATATATATATATATATATATATAT AA	EGF	ENSG00000138798.13	transcript	ENST00000265171.10	protein_coding	1/23			chr4	TogoVar
EHBP1_chr2_62700713_63051487	62894927	A A	AAGAGAGA others(23): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0197 a0004c0009t0001g0197	1	198	0.0051	30	c.118 others(51): Show c.1185+20424_1185+20425insGAGAGAGAGAGAGAGAGAGAGAGA GAGAGA	EHBP1	ENSG00000115504.15	transcript	ENST00000431489.6	protein_coding	10/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EHBP1_chr2_62700713_63051487	62900682	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA19043.hp1 HG02258.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0001 a0001c0001t0001 a0001c0008t0001	a0001c0001t0001g0078 a0001c0008t0001g0076 a0001c0001t0001g0078 a0001c0008t0001g0076	2	198	0.0101	30	c.118 others(51): Show c.1185+26151_1185+26152insATATATATATATATATATATATAT ATATAT	EHBP1	ENSG00000115504.15	transcript	ENST00000431489.6	protein_coding	10/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EHD2_chr19_47708422_47748134	47731279	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAATTATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0320 a0001c0002t0002g0320	1	398	0.0025	30	c.915 others(47): Show c.915+5056_915+5057insAAAAAAAAAAAAAAATTATATATATATA TA	EHD2	ENSG00000024422.12	transcript	ENST00000263277.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
EHD4_chr15_41890933_41977557	41949051	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01517.hp1 NA19009.hp2 HG01517.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0010 a0001c0001t0001 a0001c0002t0010	a0001c0001t0001g0078 a0001c0002t0010g0072 a0001c0001t0001g0078 a0001c0002t0010g0072	2	360	0.0056	30	c.413 others(47): Show c.413+4712_413+4713insGTATATATATATATATATATATATATAT AT	EHD4	ENSG00000103966.11	transcript	ENST00000220325.9	protein_coding	2/5			chr15	TogoVar
EIF2AK1_chr7_6017247_6064175	6045733	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00741.hp1 HG02040.hp2 others(11): Show HG00423.hp1 HG00741.hp1 HG02040.hp2 HG02074.hp2 HG02155.hp1 HG03688.hp2 HG03710.hp2 NA18947.hp1 NA18999.hp1 NA19002.hp2 NA19056.hp1 NA19062.hp2 NA19081.hp2 NA19087.hp1	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0002c0003 a0011c0014 a0001c0001 a0002c0003 a0011c0014	a0001c0001t0001 a0001c0001t0003 a0002c0003t0001 others(4): Show a0001c0001t0001 a0001c0001t0003 a0002c0003t0001 a0002c0003t0012 a0002c0003t0025 a0002c0003t0029 a0011c0014t0001	a0001c0001t0001g0293 a0001c0001t0003g0250 a0002c0003t0001g0010 others(10): Show a0001c0001t0001g0293 a0001c0001t0003g0250 a0002c0003t0001g0010 a0002c0003t0001g0229 a0002c0003t0001g0246 a0002c0003t0001g0248 a0002c0003t0001g0262 a0002c0003t0001g0272 a0002c0003t0001g0291 a0002c0003t0012g0274 a0002c0003t0025g0275 a0002c0003t0029g0259 a0011c0014t0001g0231	14	418	0.0335	30	c.630 others(45): Show c.630+337_630+338insTATATATATATATATATATATATATATATA	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	6/14			chr7	TogoVar
EIF2AK1_chr7_6017247_6064175	6045750	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18970.hp1 NA18994.hp2 others(1): Show NA18966.hp1 NA18970.hp1 NA18994.hp2 NA19000.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0232 a0002c0003t0001g0265 a0002c0003t0001g0271 others(1): Show a0002c0003t0001g0232 a0002c0003t0001g0265 a0002c0003t0001g0271 a0002c0003t0001g0286	4	418	0.0096	30	c.630 others(45): Show c.630+320_630+321insTTATATATATATATATATATATATATATAT	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	6/14			chr7	TogoVar
EIF2AK1_chr7_6017247_6064175	6056613	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01258.hp1 NA18979.hp1 NA19001.hp1 others(1): Show HG01258.hp1 NA18979.hp1 NA19001.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 others(1): Show a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124	4	418	0.0096	30	c.119 others(47): Show c.119-1910_119-1909insATATATATATATATATTTTTTTTTTTTT TT	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF2AK1_chr7_6017247_6064175	6056613	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01978.hp1 HG02056.hp2 others(4): Show HG01192.hp1 HG01978.hp1 HG02056.hp2 HG03831.hp2 HG04228.hp1 NA18944.hp1 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0001 a0001c0001t0002 a0002c0003t0001	a0001c0001t0002g0031 a0001c0001t0002g0103 a0001c0001t0002g0104 others(4): Show a0001c0001t0002g0031 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0108 a0002c0003t0001g0106	7	418	0.0168	30	c.119 others(47): Show c.119-1910_119-1909insATATATATATATATATATTTTTTTTTTT TT	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF2AK1_chr7_6017247_6064175	6056613	A A	AAAAAAAA others(23): Show AAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18969.hp1 NA18972.hp1 others(1): Show NA18956.hp2 NA18969.hp1 NA18972.hp1 NA18994.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0010 a0001c0001 a0007c0010	a0001c0001t0002 a0007c0010t0002 a0001c0001t0002 a0007c0010t0002	a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0002g0139 others(1): Show a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0002g0139 a0007c0010t0002g0081	4	418	0.0096	30	c.119 others(47): Show c.119-1910_119-1909insATATATATATATATATATATTTTTTTTT TT	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF2AK1_chr7_6017247_6064175	6056613	A A	AAAAAAAA others(23): Show AAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0067 a0001c0001t0017g0067	1	418	0.0024	30	c.119 others(47): Show c.119-1910_119-1909insATATATATATATATATATATATTTTTTT TT	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF2AK1_chr7_6017247_6064175	6056613	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0319 a0001c0001t0005g0319	1	418	0.0024	30	c.119 others(47): Show c.119-1910_119-1909insATATATATATATATATATATATATATAT AT	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF2AK4_chr15_39929115_40040591	40017501	C C	CTATATAT others(23): Show CTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0277 a0002c0002t0003g0277	1	368	0.0027	30	c.406 others(47): Show c.4065+283_4065+312dupATATATATATATATATATATATATATAT AT	EIF2AK4	ENSG00000128829.12	transcript	ENST00000263791.10	protein_coding	29/38		INFO_REALIGN_3_PRIME	chr15	TogoVar
EIF2AK4_chr15_39929115_40040591	40017551	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATGTATG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0020 a0002c0002t0001g0020	1	368	0.0027	30	c.406 others(47): Show c.4065+312_4065+313insATATATATATATATATATATATGTATGT AT	EIF2AK4	ENSG00000128829.12	transcript	ENST00000263791.10	protein_coding	29/38		INFO_REALIGN_3_PRIME	chr15	TogoVar
EIF2AK4_chr15_39929115_40040591	40017551	A A	ATATATAT others(23): Show ATATATATATATATATATATATATGTATATG	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0101 a0003c0003t0002g0101	1	368	0.0027	30	c.406 others(47): Show c.4065+312_4065+313insATATATATATATATATATATGTATATGT AT	EIF2AK4	ENSG00000128829.12	transcript	ENST00000263791.10	protein_coding	29/38		INFO_REALIGN_3_PRIME	chr15	TogoVar
EIF2B2_chr14_74997921_75017366	75004689	A A	ATATATAT others(23): Show ATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	326	0.0031	30	c.434 others(43): Show c.434-47_434-46insATATATATATATATATTTTTTTTTTTTTTT	EIF2B2	ENSG00000119718.11	transcript	ENST00000266126.10	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
EIF2B2_chr14_74997921_75017366	75010079	C C	CGAGTGCT others(23): Show CGAGTGCTTCAGAGCTAATTGACATTGCTGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0017 a0001c0001t0029g0017	1	326	0.0031	30	c.89 others(39): Show c.891_*892insGAGTGCTTCAGAGCTAATTGACATTGCTGG	EIF2B2	ENSG00000119718.11	transcript	ENST00000266126.10	protein_coding	8/8	892		chr14	TogoVar
EIF2B3_chr1_44845522_44991595	44922836	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0319 a0001c0001t0001g0319	1	322	0.0031	30	c.566 others(47): Show c.566+3791_566+3792insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	5/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44951954	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01071.hp1 HG02523.hp1 HG00323.hp1 HG01071.hp1 HG02523.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0002 a0004c0006t0001 a0001c0001t0002 a0004c0006t0001	a0001c0001t0002g0003 a0001c0001t0002g0063 a0004c0006t0001g0228 a0001c0001t0002g0003 a0001c0001t0002g0063 a0004c0006t0001g0228	3	322	0.0093	30	c.295 others(49): Show c.295-10290_295-10289insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	3/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44984797	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01981.hp1 HG02071.hp1 others(5): Show HG01071.hp2 HG01981.hp1 HG02071.hp1 HG02273.hp2 HG02738.hp2 NA18947.hp1 NA18980.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 others(5): Show a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051	8	322	0.0248	30	c.-10 others(47): Show c.-10+1695_-10+1696insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	1/11			chr1	TogoVar
EIF2S3B_chr12_10500890_10513525	10504330	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0000 a0005c0006t0001g0000	1	422	0.0024	30	c.-15 others(41): Show c.-1573_-1572insATATATATATATATATATATATATATATAC	EIF2S3B	ENSG00000180574.4	transcript	ENST00000538173.2	protein_coding		1559		chr12	TogoVar
EIF3A_chr10_119028670_119085817	119052366	T T	TTGTGTGT others(23): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02273.hp2 NA19060.hp1 HG01496.hp1 HG02273.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0005t0002 a0001c0001t0002 a0001c0005t0002	a0001c0001t0002g0032 a0001c0001t0002g0139 a0001c0005t0002g0125 a0001c0001t0002g0032 a0001c0001t0002g0139 a0001c0005t0002g0125	3	350	0.0086	30	c.219 others(49): Show c.2197-1046_2197-1045insCACACACACACACACACACACACACA CACA	EIF3A	ENSG00000107581.14	transcript	ENST00000369144.8	protein_coding	14/21			chr10	TogoVar
EIF3A_chr10_119028670_119085817	119052368	T T	TTGTGTGT others(23): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00609.hp1 HG01361.hp2 others(3): Show HG00408.hp1 HG00609.hp1 HG01361.hp2 HG02451.hp2 NA18747.hp1 NA18975.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0007 a0001c0001 a0001c0002 a0004c0007	a0001c0001t0002 a0001c0002t0004 a0004c0007t0021 a0001c0001t0002 a0001c0002t0004 a0004c0007t0021	a0001c0001t0002g0036 a0001c0001t0002g0069 a0001c0001t0002g0117 others(3): Show a0001c0001t0002g0036 a0001c0001t0002g0069 a0001c0001t0002g0117 a0001c0001t0002g0145 a0001c0002t0004g0281 a0004c0007t0021g0025	6	350	0.0171	30	c.219 others(49): Show c.2197-1077_2197-1048dupCACACACACACACACACACACACACA CACA	EIF3A	ENSG00000107581.14	transcript	ENST00000369144.8	protein_coding	14/21			chr10	TogoVar
EIF3E_chr8_108196216_108253717	108201250	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0028 a0001c0001t0019g0028	1	348	0.0029	30	c.63 others(39): Show c.634_*635insATATATATATATATATATATATATATATAT	EIF3E	ENSG00000104408.11	transcript	ENST00000220849.10	protein_coding	13/13	634		chr8	TogoVar
EIF3H_chr8_116637130_116760823	116653348	A A	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0175 a0001c0001t0004g0175	1	336	0.0030	30	c.707 others(47): Show c.707+2507_707+2508insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT	EIF3H	ENSG00000147677.12	transcript	ENST00000521861.6	protein_coding	5/7			chr8	TogoVar
EIF3K_chr19_38614188_38641954	38637325	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0216 a0003c0004t0001g0216	1	400	0.0025	30	c.40 others(39): Show c.405_*406insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	EIF3K	ENSG00000178982.10	transcript	ENST00000248342.9	protein_coding		372		chr19	TogoVar
EIF3L_chr22_37844419_37894407	37868634	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02922.hp1 HG04204.hp1 HG01175.hp2 HG02922.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0003g0268 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0003g0268	3	318	0.0094	30	c.580 others(47): Show c.580-1517_580-1516insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	EIF3L	ENSG00000100129.18	transcript	ENST00000652021.1	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
EIF4B_chr12_53001456_53047215	53030413	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01433.hp1 HG01243.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0096 a0001c0001t0001g0061 a0001c0001t0001g0096	2	372	0.0054	30	c.979 others(47): Show c.979+2250_979+2251insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	EIF4B	ENSG00000063046.18	transcript	ENST00000262056.14	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
EIF4ENIF1_chr22_31434367_31494842	31441550	G G	GAAAAAAA others(23): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	366	0.0027	30	c.255 others(47): Show c.2551+223_2551+224insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	17/18			chr22	TogoVar
EIF4ENIF1_chr22_31434367_31494842	31464699	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0318 a0001c0003t0001g0318	1	366	0.0027	30	c.299 others(45): Show c.299-733_299-732insATATATATATATATATATTTTTTTTTTTTT	EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	4/18			chr22	TogoVar
EIF4ENIF1_chr22_31434367_31494842	31464699	A A	AAAAAAAA others(23): Show AAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0292 a0001c0003t0001g0292	1	366	0.0027	30	c.299 others(45): Show c.299-733_299-732insATATATATATATATATATATTTTTTTTTTT	EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	4/18			chr22	TogoVar
EIF4ENIF1_chr22_31434367_31494842	31464699	A A	AAAAAAAA others(23): Show AAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 NA19067.hp1 HG01081.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0055 a0001c0003t0001g0320 a0001c0001t0001g0055 a0001c0003t0001g0320	2	366	0.0055	30	c.299 others(45): Show c.299-733_299-732insATATATATATATATATATATATTTTTTTTT	EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	4/18			chr22	TogoVar
EIF4E_chr4_98874276_98934133	98896224	A A	AAAATAAA others(23): Show AAAATAAAATAAAATAAAATAAAATAAAATT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	300	0.0033	30	c.126 others(47): Show c.126-4893_126-4892insAATTTTATTTTATTTTATTTTATTTTAT TT	EIF4E	ENSG00000151247.13	transcript	ENST00000450253.7	protein_coding	2/6			chr4	TogoVar
EIF4G3_chr1_20801479_21181897	20814748	T T	TCTCCCTC others(23): Show TCTCCCTCTCCCCCTCCCCCTCCCCCTCCCC	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA19079.hp1 NA18988.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0181 a0001c0001t0001g0132 a0001c0001t0001g0181	2	312	0.0064	30	c.451 others(49): Show c.4516-1510_4516-1509insGGGGAGGGGGAGGGGGAGGGGGAGAG GGAG	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	34/36			chr1	TogoVar

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