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
E2F5_chr8_85172154_85219518	85212918	C C	CTGTCATC others(27): Show CTGTCATCCAGGCTGGAGTGTCATCCAGGCTGGAG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0150 a0001c0002t0001g0150	1	118	0.0085	34	c.931 others(49): Show c.931+717_931+750dupTCATCCAGGCTGGAGTGTCATCCAGGCTGG AGTG	E2F5	ENSG00000133740.11	transcript	ENST00000416274.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
E2F6_chr2_11439375_11471161	11468855	A A	AAAAAATA others(27): Show AAAAAATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	117	0.0085	34	c.-29 others(45): Show c.-2977_-2976insATATATATATATATATATATATATATATATTTTT	E2F6	ENSG00000169016.17	transcript	ENST00000381525.8	protein_coding		2695		chr2	TogoVar
EBF1_chr5_158690920_159104916	159088944	C C	CCCTTAAG others(27): Show CCCTTAAGGTGACAGGAATGCTTGTATAAGAGGAA	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0002 a0001c0002t0013g0002	1	196	0.0051	34	c.412 others(51): Show c.412-4239_412-4206dupTTCCTCTTATACAAGCATTCCTGTCACC TTAAGG	EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	4/15			chr5	TogoVar
EBF3_chr10_129830233_129969274	129917651	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0182 a0001c0001t0023g0182	1	49	0.0204	34	c.554 others(53): Show c.554+39606_554+39607insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	EBF3	ENSG00000108001.16	transcript	ENST00000440978.2	protein_coding	6/16			chr10	TogoVar
ECM2_chr9_92490315_92540990	92534559	A A	AACTTTTT others(27): Show AACTTTTTGAACAACTTTTTGCAATCTACTTTAGT	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0051 a0002c0003t0001g0051	1	398	0.0025	34	c.-28 others(51): Show c.-28+1340_-28+1373dupACTAAAGTAGATTGCAAAAAGTTGTTCA AAAAGT	ECM2	ENSG00000106823.13	transcript	ENST00000344604.10	protein_coding	1/9			chr9	TogoVar
ECPAS_chr9_111355685_111489383	111387797	A A	AGTGCAGT others(27): Show AGTGCAGTTATTGAGGGACAGAGTCTCACTCATCG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01243.hp1 HG01243.hp2 others(10): Show HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01261.hp2 HG01884.hp1 HG02257.hp2 HG02717.hp2 HG02886.hp2 HG03471.hp2 HG03486.hp1 HG03540.hp2 NA19030.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 others(10): Show a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032	13	352	0.0369	34	c.344 others(53): Show c.3448-1342_3448-1341insCGATGAGTGAGACTCTGTCCCTCAAT AACTGCAC	ECPAS	ENSG00000136813.15	transcript	ENST00000684092.1	protein_coding	31/49			chr9	TogoVar
ECPAS_chr9_111355685_111489383	111468689	C C	CGTGTGTG others(27): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00673.hp1 HG02015.hp1 others(6): Show HG00558.hp2 HG00673.hp1 HG02015.hp1 NA18961.hp2 NA18968.hp1 NA18969.hp2 NA18994.hp2 NA18995.hp1 NA19055.hp1	a0002 a0003 a0002 a0003	a0002c0003 a0003c0005 a0002c0003 a0003c0005	a0002c0003t0001 a0003c0005t0002 a0002c0003t0001 a0003c0005t0002	a0002c0003t0001g0011 a0002c0003t0001g0017 a0002c0003t0001g0251 others(6): Show a0002c0003t0001g0011 a0002c0003t0001g0017 a0002c0003t0001g0251 a0002c0003t0001g0261 a0002c0003t0001g0264 a0002c0003t0001g0294 a0003c0005t0002g0278 a0003c0005t0002g0281 a0003c0005t0002g0293	9	301	0.0299	34	c.22+ others(49): Show c.22+4207_22+4208insACACACACACACACACACACACACACACAC ACAC	ECPAS	ENSG00000136813.15	transcript	ENST00000684092.1	protein_coding	2/49			chr9	TogoVar
ECSCR_chr5_139443560_139467743	139446471	T T	TTCTTTCT others(27): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp2 HG03669.hp1 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0076 a0001c0001t0001g0045 a0001c0001t0001g0076	2	359	0.0056	34	c.24 others(45): Show c.2428_*2429insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding		2088		chr5	TogoVar
ECSCR_chr5_139443560_139467743	139446475	T T	TTCTTTCT others(27): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 NA18989.hp2 HG00639.hp1 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	354	0.0056	34	c.24 others(45): Show c.2424_*2425insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding		2084		chr5	TogoVar
ECSCR_chr5_139443560_139467743	139446479	T T	TTCTTTCT others(27): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG02523.hp1 NA18959.hp1 others(2): Show HG00408.hp1 HG02523.hp1 NA18959.hp1 NA18974.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0028 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0028 a0001c0001t0001g0075	5	353	0.0142	34	c.24 others(45): Show c.2420_*2421insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding		2080		chr5	TogoVar
ECSCR_chr5_139443560_139467743	139446483	T T	TTCTTTCT others(27): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	368	0.0027	34	c.24 others(45): Show c.2416_*2417insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding		2076		chr5	TogoVar
ECSCR_chr5_139443560_139467743	139446491	T T	TTCTTTCT others(27): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	360	0.0028	34	c.24 others(45): Show c.2408_*2409insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding		2068		chr5	TogoVar
EDA_chrX_69611113_70044472	69645584	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0089	1	48	0.0208	34	c.396 others(53): Show c.396+28889_396+28890insATATATATATATATATATATGTGTGT ATATATAT	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
EDA_chrX_69611113_70044472	69645604	A A	ATATATAT others(27): Show ATATATATATGTGTGTGTATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00733.hp2 HG00738.hp1 others(27): Show HG00423.hp1 HG00733.hp2 HG00738.hp1 HG01074.hp1 HG01081.hp1 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01891.hp1 HG01978.hp2 HG01981.hp2 HG02074.hp1 HG02559.hp1 HG02622.hp1 HG02647.hp1 HG02723.hp2 HG02922.hp2 HG03130.hp1 HG03195.hp2 HG03490.hp1 HG03710.hp1 HG03831.hp1 HG03927.hp1 HG04184.hp1 HG04199.hp1 NA18522.hp1 NA18906.hp2 NA19072.hp1 NA20129.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 a0001c0001 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0004t0001 a0002c0003t0001	a0001c0001t0001g0044 a0001c0001t0001g0108 a0001c0001t0001g0114 others(27): Show a0001c0001t0001g0044 a0001c0001t0001g0108 a0001c0001t0001g0114 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0134 a0001c0001t0001g0174 a0001c0001t0001g0198 a0001c0001t0002g0004 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0051 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0122 a0001c0001t0004g0129 a0001c0001t0004g0199 a0001c0001t0005g0121 a0001c0001t0007g0050 a0001c0001t0011g0135 a0001c0001t0012g0109 a0001c0001t0015g0120 a0001c0004t0001g0005 a0002c0003t0001g0110	30	223	0.1345	34	c.396 others(53): Show c.396+28909_396+28910insGTGTGTGTATATATATATATGTGTGT ATATATAT	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
EDA_chrX_69611113_70044472	69645624	A A	ATATATAT others(27): Show ATATATATATATGTGTGTATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA19068.hp1 NA18998.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0063 a0001c0001t0003g0064 a0001c0001t0001g0063 a0001c0001t0003g0064	2	164	0.0122	34	c.396 others(53): Show c.396+28933_396+28934insGTGTATATATATATATGTGTGTATAT ATATATGT	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
EDA_chrX_69611113_70044472	69655762	C C	CTATATAT others(27): Show CTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG03098.hp1 HG03209.hp1 others(2): Show HG01361.hp2 HG03098.hp1 HG03209.hp1 HG03490.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0013 a0001c0001t0002 a0001c0001t0006 a0001c0001t0013	a0001c0001t0002g0004 a0001c0001t0002g0008 a0001c0001t0002g0164 others(2): Show a0001c0001t0002g0004 a0001c0001t0002g0008 a0001c0001t0002g0164 a0001c0001t0006g0191 a0001c0001t0013g0139	5	38	0.1316	34	c.396 others(53): Show c.396+39083_396+39084insATATATATATATATATATATATATAT ATATATAT	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
EDDM13_chr19_56267748_56315454	56302581	C C	CTCCCTCC others(27): Show CTCCCTCCCCCCTTCCTTTTCTTCCTCCCCCTCTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02486.hp1 HG02809.hp1 HG01884.hp2 HG02486.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0061 a0001c0001t0001g0003 a0001c0001t0001g0061	3	306	0.0098	34	c.423 others(49): Show c.423+486_423+487insTCCCTCCCCCCTTCCTTTTCTTCCTCCCCC TCTT	EDDM13	ENSG00000267710.9	transcript	ENST00000649256.2	protein_coding	13/14			chr19	TogoVar
EDIL3_chr5_83935554_84389880	84132498	T T	TAAAATAT others(27): Show TAAAATATATAATATATATTTTAATATATATTATA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03486.hp2 HG03041.hp1 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0003 a0001c0002t0001 a0001c0004t0003	a0001c0002t0001g0144 a0001c0004t0003g0152 a0001c0002t0001g0144 a0001c0004t0003g0152	2	156	0.0128	34	c.469 others(51): Show c.469+4742_469+4743insTATAATATATATTAAAATATATATTATA TATTTT	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	5/10			chr5	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124769233	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02818.hp2 HG03540.hp1 HG01106.hp2 HG02818.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0029 a0001c0001t0002g0068 a0001c0001t0002g0069	3	186	0.0161	34	c.400 others(51): Show c.400-3626_400-3625insATATATATATTTTTTTTTTTTTTTTTTT TTTTTT	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	4/6			chr10	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124769233	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	184	0.0054	34	c.400 others(51): Show c.400-3626_400-3625insATATATATATATTTTTTTTTTTTTTTTT TTTTTT	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	4/6			chr10	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124769233	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19081.hp1 NA19058.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0074 a0001c0001t0002g0049 a0001c0001t0002g0074	2	185	0.0108	34	c.400 others(51): Show c.400-3626_400-3625insATATATATATATATTTTTTTTTTTTTTT TTTTTT	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	4/6			chr10	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124788710	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03942.hp2 NA18747.hp1 others(4): Show HG01109.hp1 HG03942.hp2 NA18747.hp1 NA18975.hp2 NA18986.hp1 NA19065.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0251 others(4): Show a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0003g0146	7	86	0.0814	34	c.291 others(49): Show c.291+332_291+333insTATATATATATATATATATATATATATATA TATA	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	3/6			chr10	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124788710	T T	TTTTATAT others(27): Show TTTTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0324 a0001c0001t0004g0324	1	80	0.0125	34	c.291 others(49): Show c.291+332_291+333insTATATATATATATATATATATATATATATA TAAA	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	3/6			chr10	TogoVar
EEFSEC_chr3_128148481_128413646	128348265	T T	TGTGTGTG others(27): Show TGTGTGTGCGTGTGTGTGTGCGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0013 a0001c0002t0001g0013	1	268	0.0037	34	c.144 others(53): Show c.1443+6381_1443+6382insTGCGTGTGTGTGTGCGTGTGTGTGTG TGCGTGTG	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
EEFSEC_chr3_128148481_128413646	128348271	C C	CGTGTGTG others(27): Show CGTGTGTGTGTGCGTGTGTGTGTGTGTGCGTGTGT	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0007	1	105	0.0095	34	c.144 others(53): Show c.1443+6387_1443+6388insTGTGTGCGTGTGTGTGTGTGTGCGTG TGTGTGTG	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
EEIG1_chr9_127935582_127985989	127985663	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00639.hp2 HG01192.hp1 others(10): Show HG00544.hp1 HG00639.hp2 HG01192.hp1 HG01993.hp2 HG02056.hp1 HG02738.hp1 HG02922.hp2 HG03130.hp2 HG03471.hp1 HG06807.hp2 NA18966.hp2 NA18975.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0019 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0001t0019 a0001c0002t0003 a0001c0002t0016	a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0032 others(9): Show a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0145 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0205 a0001c0001t0001g0223 a0001c0001t0019g0107 a0001c0002t0003g0212 a0001c0002t0016g0099	13	174	0.0747	34	c.-55 others(45): Show c.-5527_-5526insTATATATATATATATATATATATATATATATATA	EEIG1	ENSG00000167106.12	transcript	ENST00000373095.6	protein_coding		4675		chr9	TogoVar
EEIG1_chr9_127935582_127985989	127985676	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02630.hp1 HG02896.hp2 others(5): Show HG02280.hp2 HG02630.hp1 HG02896.hp2 HG03486.hp1 HG03516.hp1 NA18971.hp2 NA18986.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0029 a0001c0001t0001 a0001c0001t0029	a0001c0001t0001g0002 a0001c0001t0001g0045 a0001c0001t0001g0159 others(5): Show a0001c0001t0001g0002 a0001c0001t0001g0045 a0001c0001t0001g0159 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0029g0182	8	269	0.0297	34	c.-55 others(45): Show c.-5540_-5539insGTATATATATATATATATATATATATATATATAT	EEIG1	ENSG00000167106.12	transcript	ENST00000373095.6	protein_coding		4688		chr9	TogoVar
EEPD1_chr7_36148254_36306538	36151852	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00597.hp1 others(9): Show HG00099.hp1 HG00323.hp1 HG00597.hp1 HG00639.hp1 HG01070.hp2 HG01099.hp2 HG01496.hp2 HG01975.hp2 HG02293.hp1 HG03942.hp2 HG04228.hp1 NA18970.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0006 a0001c0008 others(1): Show a0001c0001 a0001c0006 a0001c0008 a0003c0002	a0001c0001t0005 a0001c0001t0007 a0001c0001t0027 others(5): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0027 a0001c0006t0007 a0001c0006t0020 a0001c0008t0011 a0003c0002t0017 a0003c0002t0040	a0001c0001t0005g0038 a0001c0001t0005g0040 a0001c0001t0005g0051 others(9): Show a0001c0001t0005g0038 a0001c0001t0005g0040 a0001c0001t0005g0051 a0001c0001t0007g0020 a0001c0001t0007g0029 a0001c0001t0027g0056 a0001c0006t0007g0046 a0001c0006t0020g0045 a0001c0008t0011g0048 a0003c0002t0017g0035 a0003c0002t0017g0049 a0003c0002t0040g0041	12	68	0.1765	34	c.-20 others(45): Show c.-2015_-2014insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding		1401		chr7	TogoVar
EFCAB11_chr14_89789669_89959730	89881452	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00735.hp1 HG01109.hp2 others(19): Show HG00621.hp2 HG00735.hp1 HG01109.hp2 HG01175.hp1 HG01261.hp2 HG01346.hp1 HG01884.hp1 HG02155.hp1 HG02155.hp2 HG02630.hp2 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02965.hp1 HG03195.hp2 HG03209.hp2 NA18991.hp2 NA19003.hp1 NA19030.hp2 NA19068.hp1 NA19068.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0004 a0001c0006 others(2): Show a0001c0001 a0001c0004 a0001c0006 a0002c0005 a0004c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0018 a0001c0001t0034 a0001c0004t0002 a0001c0006t0004 a0001c0006t0009 a0002c0005t0007 a0004c0010t0004	a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0167 others(19): Show a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0167 a0001c0001t0002g0032 a0001c0001t0002g0129 a0001c0001t0002g0136 a0001c0001t0002g0155 a0001c0001t0003g0101 a0001c0001t0004g0054 a0001c0001t0004g0151 a0001c0001t0005g0055 a0001c0001t0006g0037 a0001c0001t0008g0239 a0001c0001t0010g0237 a0001c0001t0012g0089 a0001c0001t0018g0048 a0001c0001t0034g0066 a0001c0004t0002g0279 a0001c0006t0004g0265 a0001c0006t0009g0262 a0002c0005t0007g0251 a0004c0010t0004g0041	22	86	0.2558	34	c.410 others(53): Show c.410+50088_410+50089insATATATATATATATATATATATATAT ATATATAT	EFCAB11	ENSG00000140025.16	transcript	ENST00000316738.12	protein_coding	5/5			chr14	TogoVar
EFHB_chr3_19874472_19939217	19894989	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0045 a0008c0011t0001g0045	1	278	0.0036	34	c.172 others(53): Show c.1725+1697_1725+1698insATATATATATATATATATATATATAT ATATATAT	EFHB	ENSG00000163576.18	transcript	ENST00000295824.14	protein_coding	9/12			chr3	TogoVar
EFHB_chr3_19874472_19939217	19908562	A A	AAGAGAGA others(27): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0099 a0002c0002t0001g0099	1	214	0.0047	34	c.128 others(53): Show c.1289-2847_1289-2814dupCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCT	EFHB	ENSG00000163576.18	transcript	ENST00000295824.14	protein_coding	5/12			chr3	TogoVar
EFHB_chr3_19874472_19939217	19908598	G G	GAGAGAGA others(27): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAA	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0124 a0002c0002t0001g0124	1	167	0.0060	34	c.128 others(53): Show c.1289-2850_1289-2849insTTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCT	EFHB	ENSG00000163576.18	transcript	ENST00000295824.14	protein_coding	5/12			chr3	TogoVar
EFHC1_chr6_52415342_52502198	52493365	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00280.hp1 HG01257.hp2 HG01258.hp1 others(9): Show HG00280.hp1 HG01257.hp2 HG01258.hp1 HG01515.hp1 HG02135.hp1 HG02300.hp1 HG02559.hp2 HG02818.hp1 HG04115.hp2 HG04228.hp1 NA19068.hp2 NA19083.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0002 a0004c0004 a0001c0001 a0003c0002 a0004c0004	a0001c0001t0008 a0001c0001t0028 a0001c0001t0057 others(4): Show a0001c0001t0008 a0001c0001t0028 a0001c0001t0057 a0001c0001t0059 a0003c0002t0048 a0003c0002t0058 a0004c0004t0008	a0001c0001t0008g0026 a0001c0001t0028g0020 a0001c0001t0057g0299 others(8): Show a0001c0001t0008g0026 a0001c0001t0028g0020 a0001c0001t0057g0299 a0001c0001t0059g0131 a0003c0002t0048g0307 a0003c0002t0058g0147 a0004c0004t0008g0066 a0004c0004t0008g0070 a0004c0004t0008g0124 a0004c0004t0008g0125 a0004c0004t0008g0136	12	137	0.0876	34	c.10 others(45): Show c.1044_*1045insATATATATATATATATATATATATATATATATAT	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(27): Show GTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02451.hp2 HG02970.hp1 others(5): Show HG01496.hp1 HG02451.hp2 HG02970.hp1 HG03209.hp1 NA18939.hp1 NA18962.hp1 NA18967.hp1 NA18969.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0006 a0003c0003 a0001c0001 a0001c0006 a0003c0003	a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 others(3): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0006t0001 a0001c0006t0006 a0003c0003t0002	a0001c0001t0003g0112 a0001c0001t0003g0208 a0001c0001t0003g0219 others(5): Show a0001c0001t0003g0112 a0001c0001t0003g0208 a0001c0001t0003g0219 a0001c0001t0006g0040 a0001c0001t0007g0111 a0001c0006t0001g0016 a0001c0006t0006g0103 a0003c0003t0002g0057	8	96	0.0833	34	c.175 others(53): Show c.1752-8572_1752-8571insTATATATATATATATATATATATATA TATATATA	EFHC2	ENSG00000183690.13	transcript	ENST00000420999.2	protein_coding	11/14			chrX	TogoVar
EFHD1_chr2_232628604_232687776	232650561	T T	TGAGATTG others(27): Show TGAGATTGCAGGCGTGAGCCACCATGCCCAGCTGC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00323.hp2 others(22): Show HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00642.hp1 HG01175.hp2 HG01975.hp1 HG02735.hp1 HG02895.hp2 HG02897.hp2 HG03239.hp1 NA18942.hp1 NA18951.hp1 NA18972.hp2 NA18981.hp1 NA19030.hp2 NA19056.hp1 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19085.hp2 NA19087.hp2 NA19091.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0004 a0002c0002 others(2): Show a0001c0001 a0001c0004 a0002c0002 a0002c0003 a0008c0013	a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 others(10): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0004t0004 a0001c0004t0006 a0002c0002t0001 a0002c0002t0005 a0002c0002t0017 a0002c0003t0001 a0008c0013t0001	a0001c0001t0004g0319 a0001c0001t0004g0352 a0001c0001t0004g0353 others(22): Show a0001c0001t0004g0319 a0001c0001t0004g0352 a0001c0001t0004g0353 a0001c0001t0004g0354 a0001c0001t0005g0300 a0001c0001t0005g0303 a0001c0001t0006g0277 a0001c0001t0006g0278 a0001c0001t0007g0304 a0001c0001t0010g0301 a0001c0001t0010g0306 a0001c0001t0012g0351 a0001c0004t0004g0064 a0001c0004t0004g0065 a0001c0004t0004g0081 a0001c0004t0004g0168 a0001c0004t0004g0171 a0001c0004t0006g0041 a0002c0002t0001g0199 a0002c0002t0001g0201 a0002c0002t0005g0302 a0002c0002t0017g0311 a0002c0003t0001g0091 a0002c0003t0001g0170 a0008c0013t0001g0027	25	230	0.1087	34	c.303 others(53): Show c.303-12241_303-12240insGAGATTGCAGGCGTGAGCCACCATGC CCAGCTGC	EFHD1	ENSG00000115468.13	transcript	ENST00000264059.8	protein_coding	1/3			chr2	TogoVar
EFHD1_chr2_232628604_232687776	232677207	T T	TACACACA others(27): Show TACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0171 a0001c0004t0004g0171	1	48	0.0208	34	c.586 others(51): Show c.586-4377_586-4344dupACACACACACACACACACACACACACAC ACACAC	EFHD1	ENSG00000115468.13	transcript	ENST00000264059.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
EFNA5_chr5_107371894_107675937	107476046	C C	CTATATAT others(27): Show CTATATATATATATATATATATATATATATATGTA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp1 others(8): Show HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp1 HG01978.hp2 HG02145.hp2 HG02922.hp2 NA18522.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0010 a0001c0001t0017 a0001c0001t0024 a0001c0001t0028 a0001c0001t0030 a0001c0001t0069	a0001c0001t0001g0150 a0001c0001t0002g0139 a0001c0001t0003g0080 others(8): Show a0001c0001t0001g0150 a0001c0001t0002g0139 a0001c0001t0003g0080 a0001c0001t0004g0091 a0001c0001t0009g0035 a0001c0001t0010g0173 a0001c0001t0017g0087 a0001c0001t0024g0067 a0001c0001t0028g0042 a0001c0001t0030g0002 a0001c0001t0069g0085	11	81	0.1358	34	c.126 others(53): Show c.126-48538_126-48537insTACATATATATATATATATATATATA TATATATA	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EFR3B_chr2_25037076_25164135	25046506	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0114 a0001c0001t0008g0114	1	52	0.0192	34	c.7+4 others(47): Show c.7+4203_7+4204insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	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(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0116 a0001c0007t0002g0116	1	279	0.0036	34	c.128 others(51): Show c.128-8569_128-8568insTATATATATATATATATATATATATATA TATATA	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(27): Show TATATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0049 a0003c0003t0005g0049	1	340	0.0029	34	c.128 others(51): Show c.128-8564_128-8563insATATATATATATATATATATATATATAT ATATAA	EGF	ENSG00000138798.13	transcript	ENST00000265171.10	protein_coding	1/23			chr4	TogoVar
EHBP1_chr2_62700713_63051487	62900682	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03195.hp1 HG02280.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0077 a0001c0001t0001g0061 a0001c0001t0001g0077	2	184	0.0109	34	c.118 others(55): Show c.1185+26151_1185+26152insATATATATATATATATATATATAT ATATATATAT	EHBP1	ENSG00000115504.15	transcript	ENST00000431489.6	protein_coding	10/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EHMT1_chr9_137614005_137841127	137780803	C C	CGAGACGT others(27): Show CGAGACGTGTGGTGATGACGCCGGGATGTGTGGTG	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0109 a0001c0002t0001g0109	1	164	0.0061	34	c.227 others(53): Show c.2275+1086_2275+1087insGAGACGTGTGGTGATGACGCCGGGAT GTGTGGTG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	14/26			chr9	TogoVar
EHMT1_chr9_137614005_137841127	137818816	A A	AGGGGGGG others(27): Show AGGGGGGGGCGCCATGTACCGAGACCGTAGAGAGG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0001 a0001c0025t0001	a0001c0025t0001g0051 a0001c0025t0001g0051	1	166	0.0060	34	c.354 others(51): Show c.3540+678_3540+679insGGGGGGGGCGCCATGTACCGAGACCGTA GAGAGG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26			chr9	TogoVar
EHMT1_chr9_137614005_137841127	137819272	A A	AGGGGGGG others(27): Show AGGGGGGGGCGCCATGTACCGAGACCGTAGAGAGG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0001 a0001c0025t0001	a0001c0025t0001g0051 a0001c0025t0001g0051	1	168	0.0060	34	c.354 others(53): Show c.3540+1134_3540+1135insGGGGGGGGCGCCATGTACCGAGACCG TAGAGAGG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26			chr9	TogoVar
EIF2AK1_chr7_6017247_6064175	6045733	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp2 HG02071.hp1 others(4): Show HG00544.hp2 HG00558.hp2 HG02071.hp1 HG02602.hp1 NA18940.hp1 NA18973.hp1 NA19080.hp1	a0002 a0002	a0002c0003 a0002c0012 a0002c0003 a0002c0012	a0002c0003t0001 a0002c0012t0001 a0002c0003t0001 a0002c0012t0001	a0002c0003t0001g0233 a0002c0003t0001g0239 a0002c0003t0001g0256 others(4): Show a0002c0003t0001g0233 a0002c0003t0001g0239 a0002c0003t0001g0256 a0002c0003t0001g0268 a0002c0003t0001g0282 a0002c0003t0001g0297 a0002c0012t0001g0227	7	309	0.0227	34	c.630 others(49): Show c.630+337_630+338insTATATATATATATATATATATATATATATA TATA	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	6/14			chr7	TogoVar
EIF2AK1_chr7_6017247_6064175	6056613	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0113 a0001c0001t0003g0114	2	130	0.0154	34	c.119 others(51): Show c.119-1910_119-1909insATATATATATATATATATTTTTTTTTTT TTTTTT	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF2AK1_chr7_6017247_6064175	6056613	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01074.hp2 HG01099.hp1 others(1): Show HG00099.hp1 HG01074.hp2 HG01099.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0027 a0001c0001t0003g0093 a0001c0001t0003g0094 others(1): Show a0001c0001t0002g0027 a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0095	4	132	0.0303	34	c.119 others(51): Show c.119-1910_119-1909insATATATATATATATATATATTTTTTTTT TTTTTT	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF2AK1_chr7_6017247_6064175	6056613	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0075 a0001c0001t0003g0075	1	129	0.0078	34	c.119 others(51): Show c.119-1910_119-1909insATATATATATATATATATATATTTTTTT TTTTTT	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF2AK1_chr7_6017247_6064175	6056613	A A	AAAAAAAA others(27): Show AAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01070.hp2 HG01192.hp2 others(4): Show HG00280.hp2 HG01070.hp2 HG01192.hp2 HG01517.hp2 HG02615.hp2 HG03834.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 others(4): Show a0001c0001t0002g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0063	7	135	0.0519	34	c.119 others(51): Show c.119-1910_119-1909insATATATATATATATATATATATATTTTT TTTTTT	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF2AK4_chr15_39929115_40040591	40017501	C C	CTATATAT others(27): Show CTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02602.hp2 NA18957.hp1 HG02165.hp1 HG02602.hp2 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0126 a0001c0001t0003g0170 a0001c0001t0003g0181 a0001c0001t0002g0126 a0001c0001t0003g0170 a0001c0001t0003g0181	3	152	0.0197	34	c.406 others(51): Show c.4065+279_4065+312dupATATATATATATATATATATATATATAT ATATAT	EIF2AK4	ENSG00000128829.12	transcript	ENST00000263791.10	protein_coding	29/38		INFO_REALIGN_3_PRIME	chr15	TogoVar

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