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
EGF_chr4_109907883_110018766	109968673	C C	CATCTATC others(13): Show CATCTATCTATCTATCTATCT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00609.hp1 HG01192.hp2 others(18): Show HG00597.hp2 HG00609.hp1 HG01192.hp2 HG01256.hp2 HG01258.hp1 HG01891.hp2 HG01993.hp2 HG02129.hp2 HG02148.hp2 HG02165.hp1 HG02486.hp2 HG02622.hp2 HG02922.hp2 HG03710.hp1 HG04115.hp2 HG06807.hp2 NA18947.hp2 NA18950.hp2 NA18956.hp1 NA19030.hp2 NA19068.hp1	a0001 a0004 a0007 others(3): Show a0001 a0004 a0007 a0012 a0013 a0025	a0001c0001 a0004c0004 a0007c0008 others(3): Show a0001c0001 a0004c0004 a0007c0008 a0012c0014 a0013c0017 a0025c0028	a0001c0001t0002 a0001c0001t0004 a0004c0004t0003 others(5): Show a0001c0001t0002 a0001c0001t0004 a0004c0004t0003 a0004c0004t0010 a0007c0008t0003 a0012c0014t0007 a0013c0017t0007 a0025c0028t0001	a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0087 others(18): Show a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0128 a0001c0001t0004g0339 a0001c0001t0004g0347 a0004c0004t0003g0132 a0004c0004t0003g0256 a0004c0004t0003g0270 a0004c0004t0003g0277 a0004c0004t0010g0057 a0004c0004t0010g0259 a0004c0004t0010g0287 a0007c0008t0003g0349 a0012c0014t0007g0119 a0012c0014t0007g0120 a0013c0017t0007g0118 a0025c0028t0001g0012	21	388	0.0541	20	c.157 others(37): Show c.1576-280_1576-261dupTCTATCTATCTATCTATCTA	EGF	ENSG00000138798.13	transcript	ENST00000265171.10	protein_coding	10/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
EGF_chr4_109907883_110018766	109968707	T T	TCTACCTA others(13): Show TCTACCTACCTACCTACCTAC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01109.hp2 HG01975.hp2 others(12): Show HG00621.hp1 HG01109.hp2 HG01975.hp2 HG02080.hp2 HG02083.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG03486.hp2 NA18945.hp1 NA18947.hp1 NA18953.hp1 NA18965.hp1 NA19065.hp1 NA20129.hp1	a0003 a0004 a0005 others(2): Show a0003 a0004 a0005 a0009 a0017	a0003c0003 a0004c0004 a0005c0005 others(2): Show a0003c0003 a0004c0004 a0005c0005 a0009c0010 a0017c0031	a0003c0003t0005 a0003c0003t0008 a0004c0004t0003 others(5): Show a0003c0003t0005 a0003c0003t0008 a0004c0004t0003 a0005c0005t0011 a0005c0005t0017 a0009c0010t0016 a0009c0010t0042 a0017c0031t0005	a0003c0003t0005g0042 a0003c0003t0008g0027 a0003c0003t0008g0034 others(12): Show a0003c0003t0005g0042 a0003c0003t0008g0027 a0003c0003t0008g0034 a0003c0003t0008g0047 a0003c0003t0008g0052 a0003c0003t0008g0373 a0004c0004t0003g0255 a0005c0005t0011g0319 a0005c0005t0017g0248 a0009c0010t0016g0321 a0009c0010t0016g0322 a0009c0010t0016g0323 a0009c0010t0016g0324 a0009c0010t0042g0320 a0017c0031t0005g0029	15	388	0.0387	20	c.157 others(37): Show c.1576-260_1576-241dupCCTACCTACCTACCTACCTA	EGF	ENSG00000138798.13	transcript	ENST00000265171.10	protein_coding	10/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
EGF_chr4_109907883_110018766	109968707	T T	TCTATCTA others(13): Show TCTATCTATCTATCTATCTAC	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0332 a0001c0001t0004g0332	1	388	0.0026	20	c.157 others(37): Show c.1576-261_1576-260insTCTATCTATCTATCTACCTA	EGF	ENSG00000138798.13	transcript	ENST00000265171.10	protein_coding	10/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
EGF_chr4_109907883_110018766	110004215	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0345 a0002c0002t0006g0345	1	388	0.0026	20	c.317 others(37): Show c.3174-272_3174-253dupCACACACACACACACACACA	EGF	ENSG00000138798.13	transcript	ENST00000265171.10	protein_coding	21/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
EGLN3_chr14_33919227_33956074	33927152	G G	GATTTATT others(13): Show GATTTATTTATTTATTTATTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0090 a0001c0001t0015g0090	1	424	0.0024	20	c.615 others(35): Show c.615-139_615-120dupAAATAAATAAATAAATAAAT	EGLN3	ENSG00000129521.15	transcript	ENST00000250457.9	protein_coding	3/4			chr14	TogoVar
EGLN3_chr14_33919227_33956074	33936236	T T	TATAAATA others(13): Show TATAAATAAATAAATAAATAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00597.hp1 others(22): Show HG00323.hp1 HG00323.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00738.hp1 HG01070.hp2 HG02004.hp2 HG02040.hp1 HG02080.hp2 HG02165.hp2 HG02523.hp2 HG02735.hp1 HG02735.hp2 HG04228.hp1 NA18747.hp1 NA18950.hp1 NA18954.hp2 NA19004.hp1 NA19009.hp2 NA19058.hp2 NA19062.hp1 NA19078.hp2 NA19084.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0001t0019 a0001c0001t0033	a0001c0001t0001g0148 a0001c0001t0001g0175 a0001c0001t0001g0177 others(21): Show a0001c0001t0001g0148 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0201 a0001c0001t0002g0213 a0001c0001t0003g0180 a0001c0001t0005g0049 a0001c0001t0005g0085 a0001c0001t0005g0112 a0001c0001t0005g0116 a0001c0001t0005g0206 a0001c0001t0005g0234 a0001c0001t0005g0271 a0001c0001t0005g0272 a0001c0001t0005g0275 a0001c0001t0006g0115 a0001c0001t0006g0202 a0001c0001t0006g0273 a0001c0001t0011g0176 a0001c0001t0019g0114 a0001c0001t0019g0156 a0001c0001t0033g0274	25	424	0.0590	20	c.358 others(37): Show c.358-5022_358-5021insTTATTTATTTATTTATTTAT	EGLN3	ENSG00000129521.15	transcript	ENST00000250457.9	protein_coding	1/4			chr14	TogoVar
EHBP1_chr2_62700713_63051487	63019830	G G	GGGAGGGA others(13): Show GGGAGGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00639.hp1 HG01257.hp1 others(11): Show HG00621.hp1 HG00639.hp1 HG01257.hp1 HG01261.hp1 HG02109.hp1 HG02135.hp1 HG02622.hp2 HG02717.hp2 HG03130.hp1 HG03471.hp1 HG03704.hp2 NA18960.hp1 NA19065.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0010 a0001c0001 a0001c0003 a0001c0010	a0001c0001t0001 a0001c0003t0001 a0001c0010t0001 a0001c0001t0001 a0001c0003t0001 a0001c0010t0001	a0001c0001t0001g0044 a0001c0001t0001g0057 a0001c0001t0001g0075 others(11): Show a0001c0001t0001g0044 a0001c0001t0001g0057 a0001c0001t0001g0075 a0001c0001t0001g0106 a0001c0001t0001g0139 a0001c0001t0001g0145 a0001c0001t0001g0154 a0001c0001t0001g0167 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0198 a0001c0003t0001g0188 a0001c0003t0001g0189 a0001c0010t0001g0155	14	198	0.0707	20	c.310 others(41): Show c.3104-17702_3104-17701insGGGAAGGAAGGAAGGAAGGA	EHBP1	ENSG00000115504.15	transcript	ENST00000431489.6	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EHD4_chr15_41890933_41977557	41949016	C C	CTATATAT others(13): Show CTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0237 a0002c0005t0001g0237	1	360	0.0028	20	c.413 others(37): Show c.413+4728_413+4747dupTATATATATATATATATATA	EHD4	ENSG00000103966.11	transcript	ENST00000220325.9	protein_coding	2/5			chr15	TogoVar
EHD4_chr15_41890933_41977557	41949051	T T	TATATATA others(13): Show TATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03688.hp2 HG03834.hp1 HG03017.hp1 HG03688.hp2 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0007 a0001c0001t0001 a0001c0001t0002 a0001c0003t0007	a0001c0001t0001g0084 a0001c0001t0002g0062 a0001c0003t0007g0052 a0001c0001t0001g0084 a0001c0001t0002g0062 a0001c0003t0007g0052	3	360	0.0083	20	c.413 others(37): Show c.413+4712_413+4713insGTATATATATATATATATAT	EHD4	ENSG00000103966.11	transcript	ENST00000220325.9	protein_coding	2/5			chr15	TogoVar
EHF_chr11_34616093_34668288	34666242	A A	AATAAATA others(13): Show AATAAATAAATAAATAAATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0154 a0001c0001t0017g0154	1	410	0.0024	20	c.73 others(31): Show c.7311_*7312insATAAATAAATAAATAAATAC	EHF	ENSG00000135373.13	transcript	ENST00000257831.8	protein_coding		2955		chr11	TogoVar
EHHADH_chr3_185185624_185259049	185194800	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01433.hp1 HG02273.hp2 others(3): Show HG01255.hp2 HG01433.hp1 HG02273.hp2 HG03688.hp2 NA18747.hp1 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0220 a0001c0001t0001g0257 others(3): Show a0001c0001t0001g0178 a0001c0001t0001g0220 a0001c0001t0001g0257 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0332	6	348	0.0172	20	c.911 others(37): Show c.911-1333_911-1314dupTTTTTTTTTTTTTTTTTTTT	EHHADH	ENSG00000113790.11	transcript	ENST00000231887.8	protein_coding	6/6			chr3	TogoVar
EHHADH_chr3_185185624_185259049	185213119	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0038 a0003c0003t0001g0038	1	348	0.0029	20	c.568 others(37): Show c.568+4997_568+5016dupTTTTTTTTTTTTTTTTTTTT	EHHADH	ENSG00000113790.11	transcript	ENST00000231887.8	protein_coding	5/6			chr3	TogoVar
EHHADH_chr3_185185624_185259049	185228257	A A	AAAAAAAA others(13): Show AAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0012 a0012	a0012c0017 a0012c0017	a0012c0017t0001 a0012c0017t0001	a0012c0017t0001g0175 a0012c0017t0001g0175	1	348	0.0029	20	c.463 others(37): Show c.463+1174_463+1175insATATATATATTTTTTTTTTT	EHHADH	ENSG00000113790.11	transcript	ENST00000231887.8	protein_coding	4/6			chr3	TogoVar
EHMT1_chr9_137614005_137841127	137704762	T T	TCCTGCCT others(13): Show TCCTGCCTTCCCTCCCTCCCG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02717.hp2 HG03195.hp2 HG02055.hp1 HG02717.hp2 HG03195.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0001 a0001c0004t0001 a0001c0003t0001 a0001c0004t0001	a0001c0003t0001g0088 a0001c0003t0001g0095 a0001c0004t0001g0169 a0001c0003t0001g0088 a0001c0003t0001g0095 a0001c0004t0001g0169	3	170	0.0177	20	c.22- others(35): Show c.22-6182_22-6163dupTGCCTTCCCTCCCTCCCGCC	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137704785	T T	TGCCTTCC others(13): Show TGCCTTCCCTCCCTCCCGCCC	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	170	0.0059	20	c.22- others(35): Show c.22-6181_22-6162dupGCCTTCCCTCCCTCCCGCCC	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137795401	G G	GCACACAC others(13): Show GCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01257.hp1 HG02145.hp2 others(10): Show HG00099.hp1 HG01257.hp1 HG02145.hp2 HG02165.hp2 HG02735.hp1 HG03098.hp2 HG03491.hp2 HG03492.hp2 NA18947.hp1 NA18979.hp1 NA18982.hp2 NA19080.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0001 a0001c0001t0002 a0001c0015t0001 a0001c0001t0001 a0001c0001t0002 a0001c0015t0001	a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0076 others(10): Show a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0097 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0002g0079 a0001c0001t0002g0123 a0001c0015t0001g0101	13	170	0.0765	20	c.250 others(39): Show c.2506-3404_2506-3385dupACACACACACACACACACAC	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	16/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EID2B_chr19_39525987_39537852	39537216	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00738.hp1 HG01106.hp1 others(14): Show HG00408.hp1 HG00738.hp1 HG01106.hp1 HG01358.hp1 HG01928.hp1 HG02622.hp1 HG03098.hp1 NA18948.hp1 NA18955.hp1 NA18980.hp1 NA18982.hp1 NA18998.hp2 NA19005.hp1 NA19060.hp2 NA19077.hp1 NA19077.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0001	a0001c0001t0002g0000 a0001c0002t0001g0000 a0001c0003t0001g0000 a0001c0001t0002g0000 a0001c0002t0001g0000 a0001c0003t0001g0000	17	418	0.0407	20	c.-44 others(31): Show c.-4415_-4414insTTTTTTTTTTTTTTTTTTTT	EID2B	ENSG00000176401.6	transcript	ENST00000326282.5	protein_coding		4365		chr19	TogoVar
EID2_chr19_39533707_39545161	39537216	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00738.hp2 HG01106.hp2 others(13): Show HG00408.hp2 HG00738.hp2 HG01106.hp2 HG01358.hp2 HG01928.hp1 HG02622.hp1 HG02683.hp2 HG03098.hp2 NA18948.hp1 NA18955.hp1 NA18980.hp1 NA18982.hp2 NA18998.hp2 NA19005.hp1 NA19060.hp1 NA19086.hp2	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0004 a0003c0003 a0007c0010 a0001c0004 a0003c0003 a0007c0010	a0001c0004t0001 a0003c0003t0001 a0007c0010t0004 a0001c0004t0001 a0003c0003t0001 a0007c0010t0004	a0001c0004t0001g0000 a0003c0003t0001g0000 a0007c0010t0004g0000 a0001c0004t0001g0000 a0003c0003t0001g0000 a0007c0010t0004g0000	16	420	0.0381	20	c.21 others(31): Show c.2152_*2153insTTTTTTTTTTTTTTTTTTTT	EID2	ENSG00000176396.11	transcript	ENST00000390658.4	protein_coding		1490		chr19	TogoVar
EIF1AX_chrX_20119525_20146838	20122369	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG03098.hp1 NA18959.hp1 others(3): Show HG01175.hp2 HG03098.hp1 NA18959.hp1 NA18989.hp1 NA19074.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0016 a0001c0001t0001 a0001c0001t0007 a0001c0001t0016	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0018 others(3): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0018 a0001c0001t0001g0103 a0001c0001t0007g0060 a0001c0001t0016g0091	6	278	0.0216	20	c.59 others(31): Show c.5936_*5937insTTTTTTTTTTTTTTTTTTTT	EIF1AX	ENSG00000173674.11	transcript	ENST00000379607.10	protein_coding		2155		chrX	TogoVar
EIF2AK1_chr7_6017247_6064175	6018968	T T	TACACACA others(13): Show TACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01168.hp1 HG01169.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0015 a0005c0007t0015	a0005c0007t0015g0394 a0005c0007t0015g0395 a0005c0007t0015g0394 a0005c0007t0015g0395	2	418	0.0048	20	c.56 others(31): Show c.5685_*5704dupGTGTGTGTGTGTGTGTGTGT	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding		3278		chr7	TogoVar
EIF2AK1_chr7_6017247_6064175	6056613	A A	AAAAAAAA others(13): Show AAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0343 a0003c0004t0005g0343	1	418	0.0024	20	c.119 others(37): Show c.119-1910_119-1909insATATATATATATATTTTTTT	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF2AK1_chr7_6017247_6064175	6056613	A A	AAAAAATA others(13): Show AAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0340 a0003c0004t0005g0340	1	418	0.0024	20	c.119 others(37): Show c.119-1910_119-1909insATATATATATATATATTTTT	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF2AK1_chr7_6017247_6064175	6056613	A A	AAAATATA others(13): Show AAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02922.hp2 HG01074.hp1 HG02922.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0005 a0003c0004t0005 a0001c0001t0005 a0003c0004t0005	a0001c0001t0005g0333 a0003c0004t0005g0334 a0001c0001t0005g0333 a0003c0004t0005g0334	2	418	0.0048	20	c.119 others(37): Show c.119-1910_119-1909insATATATATATATATATATTT	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF2AK1_chr7_6017247_6064175	6056628	A A	ATATATAT others(13): Show ATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03579.hp2 NA18990.hp2 others(1): Show HG02965.hp1 HG03579.hp2 NA18990.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0006g0372 others(1): Show a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0006g0372 a0001c0001t0006g0373	4	418	0.0096	20	c.119 others(37): Show c.119-1925_119-1924insCATATATATATATATATATA	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF2AK4_chr15_39929115_40040591	40017501	C C	CTATATAT others(13): Show CTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG03486.hp1 NA18965.hp1 others(3): Show HG02132.hp2 HG03486.hp1 NA18965.hp1 NA18984.hp1 NA19065.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0109 a0001c0001t0003g0180 a0001c0001t0003g0188 others(3): Show a0001c0001t0003g0109 a0001c0001t0003g0180 a0001c0001t0003g0188 a0001c0001t0003g0190 a0001c0001t0003g0201 a0001c0001t0005g0033	6	368	0.0163	20	c.406 others(37): Show c.4065+293_4065+312dupATATATATATATATATATAT	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(13): Show ATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03654.hp1 NA19074.hp2 HG03654.hp1 NA19074.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0127 a0002c0002t0001g0300 a0001c0001t0001g0127 a0002c0002t0001g0300	2	368	0.0054	20	c.406 others(37): Show c.4065+312_4065+313insATATATATATATATATGTAT	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(13): Show ATATATATATATATGTATATG	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG03704.hp1 NA18522.hp2 others(4): Show HG02273.hp2 HG03704.hp1 NA18522.hp2 NA18980.hp1 NA19060.hp2 NA19068.hp2 NA20300.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0003c0003t0002 a0002c0002t0002 a0003c0003t0002	a0002c0002t0002g0242 a0002c0002t0002g0310 a0003c0003t0002g0054 others(4): Show a0002c0002t0002g0242 a0002c0002t0002g0310 a0003c0003t0002g0054 a0003c0003t0002g0056 a0003c0003t0002g0087 a0003c0003t0002g0092 a0003c0003t0002g0098	7	368	0.0190	20	c.406 others(37): Show c.4065+312_4065+313insATATATATATGTATATGTAT	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(13): Show ATATATATATATGTATGTATG	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02809.hp2 NA19043.hp1 HG02074.hp2 HG02809.hp2 NA19043.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0008 a0002c0002 a0005c0008	a0002c0002t0001 a0005c0008t0001 a0005c0008t0004 a0002c0002t0001 a0005c0008t0001 a0005c0008t0004	a0002c0002t0001g0160 a0005c0008t0001g0299 a0005c0008t0004g0340 a0002c0002t0001g0160 a0005c0008t0001g0299 a0005c0008t0004g0340	3	368	0.0082	20	c.406 others(37): Show c.4065+312_4065+313insATATATATGTATGTATGTAT	EIF2AK4	ENSG00000128829.12	transcript	ENST00000263791.10	protein_coding	29/38		INFO_REALIGN_3_PRIME	chr15	TogoVar
EIF2AK4_chr15_39929115_40040591	40037279	G G	GAAAAAAA others(13): Show GAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0032 a0001c0005t0001g0032	1	368	0.0027	20	c.21 others(31): Show c.2195_*2196insAAAAAAAAAAAAAAAAAAAA	EIF2AK4	ENSG00000128829.12	transcript	ENST00000263791.10	protein_coding		1689		chr15	TogoVar
EIF2A_chr3_150541787_150591016	150590741	G G	GTATATGT others(13): Show GTATATGTATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0005 a0001c0001t0006g0005	1	394	0.0025	20	c.68 others(31): Show c.6830_*6831insTATATGTATATATATATATA	EIF2A	ENSG00000144895.12	transcript	ENST00000460851.6	protein_coding		4726		chr3	TogoVar
EIF2A_chr3_150541787_150591016	150590741	G G	GTATATGT others(13): Show GTATATGTGTATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0005 a0001c0001t0006g0005	1	394	0.0025	20	c.68 others(31): Show c.6830_*6831insTATATGTGTATATATATATA	EIF2A	ENSG00000144895.12	transcript	ENST00000460851.6	protein_coding		4726		chr3	TogoVar
EIF2B2_chr14_74997921_75017366	75004689	A A	ATATATAT others(13): Show ATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0068 a0001c0001t0006g0068	1	326	0.0031	20	c.434 others(33): Show c.434-47_434-46insATATATATATATATATTTTT	EIF2B2	ENSG00000119718.11	transcript	ENST00000266126.10	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
EIF2B3_chr1_44845522_44991595	44942417	A A	ATATATAT others(13): Show ATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01256.hp1 HG01258.hp2 HG00609.hp1 HG01256.hp1 HG01258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0175 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0175	3	322	0.0093	20	c.295 others(35): Show c.295-753_295-752insAATATATATATATATATATA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	3/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44942417	A A	ATATATAT others(13): Show ATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02723.hp1 HG00408.hp2 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0100 a0001c0001t0002g0095 a0001c0001t0002g0100	2	322	0.0062	20	c.295 others(35): Show c.295-753_295-752insAAAATATATATATATATATA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	3/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44942417	A A	ATATATAT others(13): Show ATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0102 a0001c0001t0002g0102	1	322	0.0031	20	c.295 others(35): Show c.295-753_295-752insAAAAAATATATATATATATA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	3/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44942417	A A	ATATATAT others(13): Show ATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0162 a0001c0002t0001g0162	1	322	0.0031	20	c.295 others(35): Show c.295-753_295-752insAAAAAAAATATATATATATA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	3/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44951954	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03471.hp1 HG03942.hp1 others(4): Show HG02602.hp1 HG03471.hp1 HG03942.hp1 NA18968.hp1 NA18968.hp2 NA19009.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0001 a0001c0001t0002g0025 a0001c0001t0002g0027 others(4): Show a0001c0001t0002g0001 a0001c0001t0002g0025 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0073 a0001c0001t0002g0102 a0001c0002t0001g0202	7	322	0.0217	20	c.295 others(39): Show c.295-10309_295-10290dupAAAAAAAAAAAAAAAAAAAA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	3/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44984797	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0093 a0001c0001t0002g0093	1	322	0.0031	20	c.-10 others(37): Show c.-10+1676_-10+1695dupAAAAAAAAAAAAAAAAAAAA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	1/11			chr1	TogoVar
EIF2D_chr1_206586642_206617465	206593506	A A	AGTGTGTG others(13): Show AGTGTGTGTGTGCGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02300.hp2 HG02486.hp1 others(3): Show HG01361.hp2 HG02300.hp2 HG02486.hp1 NA18942.hp1 NA18988.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0084 a0001c0001t0001g0136 a0001c0001t0001g0018 a0001c0001t0001g0084 a0001c0001t0001g0136	6	426	0.0141	20	c.168 others(37): Show c.1684+112_1684+113insACACACACGCACACACACAC	EIF2D	ENSG00000143486.16	transcript	ENST00000271764.7	protein_coding	14/14			chr1	TogoVar
EIF2D_chr1_206586642_206617465	206593508	A A	AGAGAGTG others(13): Show AGAGAGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	426	0.0024	20	c.168 others(37): Show c.1684+110_1684+111insACACACACACACACACTCTC	EIF2D	ENSG00000143486.16	transcript	ENST00000271764.7	protein_coding	14/14			chr1	TogoVar
EIF2D_chr1_206586642_206617465	206593508	A A	AGAGTGTG others(13): Show AGAGTGTGTGTGTGCGTGTGT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	2	426	0.0047	20	c.168 others(37): Show c.1684+110_1684+111insACACACGCACACACACACTC	EIF2D	ENSG00000143486.16	transcript	ENST00000271764.7	protein_coding	14/14			chr1	TogoVar
EIF2D_chr1_206586642_206617465	206593508	A A	AGTGTGTG others(13): Show AGTGTGTGTGTGCGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02074.hp1 NA19080.hp1 others(1): Show HG00673.hp1 HG02074.hp1 NA19080.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0153 a0001c0001t0001g0160 a0001c0001t0001g0044 a0001c0001t0001g0153 a0001c0001t0001g0160	4	426	0.0094	20	c.168 others(37): Show c.1684+110_1684+111insACACACACGCACACACACAC	EIF2D	ENSG00000143486.16	transcript	ENST00000271764.7	protein_coding	14/14			chr1	TogoVar
EIF2D_chr1_206586642_206617465	206593508	A A	AGTGTGTG others(13): Show AGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	426	0.0024	20	c.168 others(36): Show c.1684+91_1684+110dupACACACACACACACACACAC	EIF2D	ENSG00000143486.16	transcript	ENST00000271764.7	protein_coding	14/14			chr1	TogoVar
EIF2D_chr1_206586642_206617465	206616249	A A	AATTTGCT others(13): Show AATTTGCTTGAAACCCTAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	426	0.0024	20	c.-39 others(31): Show c.-3908_-3907insCCCTAGGGTTTCAAGCAAAT	EIF2D	ENSG00000143486.16	transcript	ENST00000271764.7	protein_coding		3785		chr1	TogoVar
EIF2S3B_chr12_10500890_10513525	10504306	C C	CATATATA others(13): Show CATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02717.hp2 HG02895.hp2 others(4): Show HG02109.hp2 HG02717.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG03130.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	7	422	0.0166	20	c.-15 others(31): Show c.-1597_-1596insATATATATATATATATATAT	EIF2S3B	ENSG00000180574.4	transcript	ENST00000538173.2	protein_coding		1583		chr12	TogoVar
EIF2S3B_chr12_10500890_10513525	10504330	T T	TATATATA others(13): Show TATATATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp2 HG03491.hp2 HG03492.hp2 others(9): Show HG02132.hp2 HG03491.hp2 HG03492.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18953.hp1 NA18995.hp1 NA18998.hp2 NA19012.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	12	422	0.0284	20	c.-15 others(31): Show c.-1573_-1572insATATATATATATATATATAC	EIF2S3B	ENSG00000180574.4	transcript	ENST00000538173.2	protein_coding		1559		chr12	TogoVar
EIF3A_chr10_119028670_119085817	119052368	T T	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA18522.hp1 NA18965.hp2 others(3): Show HG03486.hp1 NA18522.hp1 NA18965.hp2 NA18981.hp1 NA19009.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0004 a0001c0002t0019 others(1): Show a0001c0001t0002 a0001c0002t0004 a0001c0002t0019 a0001c0002t0023	a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0002t0004g0287 others(3): Show a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0002t0004g0287 a0001c0002t0004g0289 a0001c0002t0019g0279 a0001c0002t0023g0324	6	350	0.0171	20	c.219 others(39): Show c.2197-1067_2197-1048dupCACACACACACACACACACA	EIF3A	ENSG00000107581.14	transcript	ENST00000369144.8	protein_coding	14/21			chr10	TogoVar
EIF3B_chr7_2349827_2385745	2381132	T T	TTCAAGCG others(13): Show TTCAAGCGATGCTCCTGCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0331 a0001c0003t0001g0331	1	384	0.0026	20	c.94 others(29): Show c.943_*944insTCAAGCGATGCTCCTGCCTC	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding		388		chr7	TogoVar
EIF3E_chr8_108196216_108253717	108201250	C C	CATATATA others(13): Show CATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00738.hp1 HG01099.hp2 HG01106.hp1 others(5): Show HG00738.hp1 HG01099.hp2 HG01106.hp1 HG01261.hp2 HG01358.hp2 HG02602.hp2 HG03239.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0027 a0001c0001t0009g0029 a0001c0001t0009g0085 others(5): Show a0001c0001t0009g0027 a0001c0001t0009g0029 a0001c0001t0009g0085 a0001c0001t0009g0086 a0001c0001t0009g0095 a0001c0001t0009g0099 a0001c0001t0009g0101 a0001c0001t0009g0149	8	348	0.0230	20	c.63 others(29): Show c.634_*635insATATATATATATATATATAT	EIF3E	ENSG00000104408.11	transcript	ENST00000220849.10	protein_coding	13/13	634		chr8	TogoVar
EIF3E_chr8_108196216_108253717	108204731	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0157 a0001c0001t0002g0157	1	348	0.0029	20	c.106 others(39): Show c.1062-1229_1062-1228insTATATATATATATATATATA	EIF3E	ENSG00000104408.11	transcript	ENST00000220849.10	protein_coding	10/12			chr8	TogoVar

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