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
EEA1_chr12_92765637_92934295	92895133	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0034 a0002c0017t0034	a0002c0017t0034g0016 a0002c0017t0034g0016	1	244	0.0041	-17	c.25- others(32): Show c.25-3429_25-3413delAAAAAAAAAAAAAAAAA	EEA1	ENSG00000102189.17	transcript	ENST00000322349.13	protein_coding	1/28			chr12	TogoVar
EEF1A1_chr6_73510750_73526032	73521073	CCACCCTC others(10): Show CCACCCTCGGGAAAAAGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	424	0.0024	-17	c.-12 others(26): Show c.-121_-105delCCTTTTTCCCGAGGGTG	EEF1A1	ENSG00000156508.19	transcript	ENST00000309268.11	protein_coding		42		chr6	TogoVar
EEF1A2_chr20_63483014_63504083	63490758	GGGGAAGG others(10): Show GGGGAAGGTGGGGCCCGA	G G	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0191 a0001c0003t0001g0191	1	374	0.0027	-17	c.773 others(30): Show c.773-40_773-24delTCGGGCCCCACCTTCCC	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding	5/7			chr20	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124774374	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	358	0.0028	-17	c.399 others(32): Show c.399+284_399+300delTTTTTTTTTTTTTTTTT	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	4/6			chr10	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124795595	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0306 a0001c0001t0006g0306	1	358	0.0028	-17	c.-37 others(28): Show c.-3779_-3763delAAAAAAAAAAAAAAAAA	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding		3709		chr10	TogoVar
EEF1AKMT3_chr12_57767614_57787541	57784916	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	1	362	0.0028	-17	c.42 others(28): Show c.4271_*4287delTTTTTTTTTTTTTTTTT	EEF1AKMT3	ENSG00000123427.17	transcript	ENST00000300209.13	protein_coding		2376		chr12	TogoVar
EEF1AKMT4_chr3_184244672_184263759	184262225	TTTGTCTA others(10): Show TTTGTCTATGCCTGTCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0006 a0002c0003t0001g0006	1	378	0.0027	-17	c.36 others(28): Show c.3651_*3667delTTGTCTATGCCTGTCCC	EEF1AKMT4	ENSG00000284753.2	transcript	ENST00000324557.9	protein_coding		3467		chr3	TogoVar
EEF1B2_chr2_206154895_206167928	206165744	ATGAACAC others(10): Show ATGAACACCTTGGAGATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	1	360	0.0028	-17	c.28 others(28): Show c.2862_*2878delTGAACACCTTGGAGATT	EEF1B2	ENSG00000114942.15	transcript	ENST00000392222.7	protein_coding		2817		chr2	TogoVar
EEF1G_chr11_62554596_62578891	62556024	TCTCCAGT others(10): Show TCTCCAGTTTCTCTCACC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	262	0.0038	-17	c.36 others(28): Show c.3638_*3654delGGTGAGAGAAACTGGAG	EEF1G	ENSG00000254772.10	transcript	ENST00000329251.5	protein_coding		3571		chr11	TogoVar
EEF2K_chr16_22201278_22293738	22216423	TTTTTGAG others(10): Show TTTTTGAGGTTGATAAGC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0068 a0001c0002t0004g0068	1	290	0.0035	-17	c.-76 others(34): Show c.-76-9213_-76-9197delTTTTGAGGTTGATAAGC	EEF2K	ENSG00000103319.12	transcript	ENST00000263026.10	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
EEFSEC_chr3_128148481_128413646	128335689	AGGAAGAA others(10): Show AGGAAGAACAGGCTGTGG	A A	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	272	0.0037	-17	c.787 others(34): Show c.787-5530_787-5514delGTGGGGAAGAACAGGCT	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
EEIG1_chr9_127935582_127985989	127965106	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG02293.hp2 HG02523.hp2 others(4): Show HG01928.hp2 HG02293.hp2 HG02523.hp2 HG02896.hp1 NA18950.hp2 NA18962.hp1 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0174 a0001c0001t0001g0175 others(1): Show a0001c0001t0001g0011 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0225	7	342	0.0205	-17	c.147 others(36): Show c.147-11198_147-11182delTTTTTTTTTTTTTTTTT	EEIG1	ENSG00000167106.12	transcript	ENST00000373095.6	protein_coding	1/10			chr9	TogoVar
EEIG2_chr1_108555100_108644322	108635361	GTGTGCCT others(10): Show GTGTGCCTTGGAAGCACC	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00738.hp1 HG01978.hp2 HG00738.hp1 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0026 a0001c0001t0014g0027 a0001c0001t0014g0026 a0001c0001t0014g0027	2	272	0.0074	-17	c.21 others(26): Show c.214_*230delTGCCTTGGAAGCACCTG	EEIG2	ENSG00000162636.16	transcript	ENST00000370035.8	protein_coding	11/11	214	INFO_REALIGN_3_PRIME	chr1	TogoVar
EFCAB5_chr17_29936634_30113452	29998417	AATATTCA others(10): Show AATATTCATTGAGCCCTC	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02451.hp2 HG03130.hp2 HG01891.hp1 HG02451.hp2 HG03130.hp2	a0009 a0014 a0009 a0014	a0009c0011 a0014c0021 a0009c0011 a0014c0021	a0009c0011t0002 a0014c0021t0002 a0009c0011t0002 a0014c0021t0002	a0009c0011t0002g0020 a0009c0011t0002g0021 a0014c0021t0002g0012 a0009c0011t0002g0020 a0009c0011t0002g0021 a0014c0021t0002g0012	3	248	0.0121	-17	c.974 others(34): Show c.974-1487_974-1471delTATTCATTGAGCCCTCA	EFCAB5	ENSG00000176927.16	transcript	ENST00000394835.8	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB5_chr17_29936634_30113452	30026961	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02055.hp1 HG03098.hp2 others(4): Show HG01243.hp2 HG02055.hp1 HG03098.hp2 HG03209.hp1 HG03540.hp1 NA18961.hp1 NA21309.hp1	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0002 a0003c0003 a0004c0004 a0002c0002 a0003c0003 a0004c0004	a0002c0002t0002 a0003c0003t0002 a0004c0004t0002 a0002c0002t0002 a0003c0003t0002 a0004c0004t0002	a0002c0002t0002g0062 a0003c0003t0002g0135 a0003c0003t0002g0137 others(4): Show a0002c0002t0002g0062 a0003c0003t0002g0135 a0003c0003t0002g0137 a0003c0003t0002g0138 a0003c0003t0002g0143 a0004c0004t0002g0015 a0004c0004t0002g0099	7	248	0.0282	-17	c.104 others(36): Show c.1045-7242_1045-7226delTTTTTTTTTTTTTTTTT	EFCAB5	ENSG00000176927.16	transcript	ENST00000394835.8	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB8_chr20_32853923_32966845	32902419	GACAGAGC others(10): Show GACAGAGCAAGACCCTGT	G G	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0173 a0003c0003t0001g0173	1	284	0.0035	-17	c.108 others(36): Show c.1088+3797_1088+3813delACAGAGCAAGACCCTGT	EFCAB8	ENSG00000215529.13	transcript	ENST00000400522.9	protein_coding	11/26			chr20	TogoVar
EFCAB8_chr20_32853923_32966845	32939127	CTTTCTTT others(10): Show CTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0032 a0032	a0032c0060 a0032c0060	a0032c0060t0001 a0032c0060t0001	a0032c0060t0001g0079 a0032c0060t0001g0079	1	284	0.0035	-17	c.279 others(36): Show c.2791-4506_2791-4490delTCTTTCTTTCTTTCTTT	EFCAB8	ENSG00000215529.13	transcript	ENST00000400522.9	protein_coding	22/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
EFHC2_chrX_44142872_44348672	44251597	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG03688.hp1 NA18986.hp1 NA18995.hp1 HG03688.hp1 NA18986.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0075 a0001c0001t0001g0087 a0001c0001t0003g0183 a0001c0001t0001g0075 a0001c0001t0001g0087 a0001c0001t0003g0183	3	221	0.0136	-17	c.607 others(34): Show c.607-1169_607-1153delTTTTTTTTTTTTTTTTT	EFHC2	ENSG00000183690.13	transcript	ENST00000420999.2	protein_coding	4/14			chrX	TogoVar
EFHC2_chrX_44142872_44348672	44282630	GGGGGGGT others(10): Show GGGGGGGTGGGGGGGGGT	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01074.hp1 HG01256.hp1 others(3): Show HG00438.hp1 HG01074.hp1 HG01256.hp1 HG02723.hp2 HG02735.hp1 HG03492.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0002 a0001c0001t0006 a0002c0002t0002 others(2): Show a0001c0001t0002 a0001c0001t0006 a0002c0002t0002 a0002c0002t0007 a0003c0003t0002	a0001c0001t0002g0082 a0001c0001t0006g0078 a0002c0002t0002g0014 others(3): Show a0001c0001t0002g0082 a0001c0001t0006g0078 a0002c0002t0002g0014 a0002c0002t0007g0155 a0002c0002t0007g0217 a0003c0003t0002g0020	6	221	0.0272	-17	c.232 others(34): Show c.232-9811_232-9795delACCCCCCCCCACCCCCC	EFHC2	ENSG00000183690.13	transcript	ENST00000420999.2	protein_coding	2/14			chrX	TogoVar
EFHC2_chrX_44142872_44348672	44339968	ATAAATAC others(10): Show ATAAATACTGATTTGTTG	A A	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0014 a0009c0011t0014	a0009c0011t0014g0002 a0009c0011t0014g0002	1	221	0.0045	-17	c.42+ others(32): Show c.42+3562_42+3578delCAACAAATCAGTATTTA	EFHC2	ENSG00000183690.13	transcript	ENST00000420999.2	protein_coding	1/14			chrX	TogoVar
EFHD1_chr2_232628604_232687776	232687350	AAAAAAAG others(10): Show AAAAAAAGAAAAGAAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA19030.hp2 NA18906.hp2 NA19030.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0041 a0001c0004t0006g0042 a0001c0004t0006g0041 a0001c0004t0006g0042	2	382	0.0052	-17	c.56 others(28): Show c.5632_*5648delAAAAAAGAAAAGAAAAG	EFHD1	ENSG00000115468.13	transcript	ENST00000264059.8	protein_coding		4575		chr2	TogoVar
EFNB3_chr17_7700202_7716372	7707123	CCTGAGAC others(10): Show CCTGAGACCCTGTCTCAG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01981.hp2 HG00323.hp1 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0010 a0001c0001t0006g0010	2	434	0.0046	-17	c.123 others(32): Show c.123-833_123-817delTGAGACCCTGTCTCAGC	EFNB3	ENSG00000108947.5	transcript	ENST00000226091.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFR3B_chr2_25037076_25164135	25082485	CAACTGTT others(10): Show CAACTGTTCTATAACAGG	C C	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0005	1	306	0.0033	-17	c.8-8 others(30): Show c.8-8835_8-8819delGTTCTATAACAGGAACT	EFR3B	ENSG00000084710.14	transcript	ENST00000403714.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EFR3B_chr2_25037076_25164135	25118726	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0179 a0001c0002t0001g0179	1	306	0.0033	-17	c.364 others(34): Show c.364-2931_364-2915delAAAAAAAAAAAAAAAAA	EFR3B	ENSG00000084710.14	transcript	ENST00000403714.8	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EGFL8_chr6_32159595_32173281	32167275	CGGGCCAC others(10): Show CGGGCCACCCGAGGGACT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00741.hp2 others(14): Show HG00323.hp1 HG00323.hp2 HG00741.hp2 HG01361.hp1 HG02109.hp1 HG02258.hp1 HG02451.hp2 HG02976.hp2 HG03516.hp2 HG03704.hp1 HG06807.hp1 NA18612.hp2 NA18906.hp2 NA18997.hp2 NA19060.hp2 NA19068.hp2 NA19074.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0004c0006t0001 a0001c0001t0001 a0004c0006t0001	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0020 others(5): Show a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0030 a0004c0006t0001g0013	17	433	0.0393	-17	c.601 others(30): Show c.601+19_601+35delGGGCCACCCGAGGGACT	EGFL8	ENSG00000241404.7	transcript	ENST00000333845.11	protein_coding	6/8			chr6	TogoVar
EGFR_chr7_55014017_55216628	55027988	AAAAATAT others(10): Show AAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0078 a0001c0004t0003g0078	1	250	0.0040	-17	c.88+ others(32): Show c.88+8625_88+8641delAAATATATATATATATA	EGFR	ENSG00000146648.21	transcript	ENST00000275493.7	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
EGFR_chr7_55014017_55216628	55027990	AAATATAT others(10): Show AAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02559.hp2 HG02965.hp2 others(2): Show HG02258.hp2 HG02559.hp2 HG02965.hp2 HG03540.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0035 a0001c0001 a0001c0004 a0001c0035	a0001c0001t0003 a0001c0004t0003 a0001c0035t0003 a0001c0001t0003 a0001c0004t0003 a0001c0035t0003	a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0004t0003g0195 others(1): Show a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0004t0003g0195 a0001c0035t0003g0003	5	250	0.0200	-17	c.88+ others(32): Show c.88+8627_88+8643delATATATATATATATATA	EGFR	ENSG00000146648.21	transcript	ENST00000275493.7	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
EGFR_chr7_55014017_55216628	55168549	TTTAGTCT others(10): Show TTTAGTCTCCCACTAAAA	T T	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG03486.hp2 HG01175.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0011t0001 a0001c0001t0001 a0001c0011t0001	a0001c0001t0001g0104 a0001c0011t0001g0217 a0001c0001t0001g0104 a0001c0011t0001g0217	2	250	0.0080	-17	c.188 others(36): Show c.1881-2625_1881-2609delTTAGTCTCCCACTAAAA	EGFR	ENSG00000146648.21	transcript	ENST00000275493.7	protein_coding	15/27			chr7	TogoVar
EGF_chr4_109907883_110018766	109991544	TAATGTAA others(10): Show TAATGTAAAATTGAGAGG	T T	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0077 a0001c0001t0027g0077	1	388	0.0026	-17	c.273 others(36): Show c.2735-1700_2735-1684delTGTAAAATTGAGAGGAA	EGF	ENSG00000138798.13	transcript	ENST00000265171.10	protein_coding	18/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
EGLN1_chr1_231358756_231427287	231412011	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA21309.hp2 NA19043.hp1 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0013	a0002c0002t0013g0065 a0002c0002t0013g0123 a0002c0002t0013g0065 a0002c0002t0013g0123	2	338	0.0059	-17	c.891 others(34): Show c.891+8970_891+8986delTTTTTTTTTTTTTTTTT	EGLN1	ENSG00000135766.9	transcript	ENST00000366641.4	protein_coding	1/4			chr1	TogoVar
EHD2_chr19_47708422_47748134	47724981	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02109.hp2 HG02145.hp1 others(9): Show HG01891.hp2 HG02109.hp2 HG02145.hp1 HG02630.hp2 HG02922.hp1 HG02970.hp1 HG03098.hp2 HG03139.hp2 HG03453.hp2 HG03927.hp1 HG06807.hp1 NA20129.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0023 others(1): Show a0001c0003 a0001c0004 a0001c0023 a0001c0026	a0001c0003t0002 a0001c0004t0003 a0001c0004t0006 others(5): Show a0001c0003t0002 a0001c0004t0003 a0001c0004t0006 a0001c0004t0007 a0001c0004t0009 a0001c0004t0019 a0001c0023t0003 a0001c0026t0003	a0001c0003t0002g0311 a0001c0004t0003g0019 a0001c0004t0003g0021 others(9): Show a0001c0003t0002g0311 a0001c0004t0003g0019 a0001c0004t0003g0021 a0001c0004t0003g0180 a0001c0004t0006g0269 a0001c0004t0007g0060 a0001c0004t0007g0062 a0001c0004t0007g0394 a0001c0004t0009g0027 a0001c0004t0019g0020 a0001c0023t0003g0344 a0001c0026t0003g0294	12	398	0.0302	-17	c.503 others(32): Show c.503-809_503-793delAAAAAAAAAAAAAAAAA	EHD2	ENSG00000024422.12	transcript	ENST00000263277.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
EHD4_chr15_41890933_41977557	41929630	GGGAAGTT others(10): Show GGGAAGTTGGTAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03098.hp2 HG02258.hp1 HG03098.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0195 a0001c0004t0006g0278 a0001c0004t0006g0195 a0001c0004t0006g0278	2	360	0.0056	-17	c.512 others(36): Show c.512-10025_512-10009delTTTTTTTACCAACTTCC	EHD4	ENSG00000103966.11	transcript	ENST00000220325.9	protein_coding	3/5			chr15	TogoVar
EHF_chr11_34616093_34668288	34630142	AACTTTGA others(10): Show AACTTTGAAATTAAAAGT	A A	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0285 a0001c0002t0004g0285	1	410	0.0024	-17	c.-4+ others(32): Show c.-4+8916_-4+8932delCTTTGAAATTAAAAGTA	EHF	ENSG00000135373.13	transcript	ENST00000257831.8	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
EHF_chr11_34616093_34668288	34661775	TCACCTGT others(10): Show TCACCTGTGCTGAATGTC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0051 a0001c0003t0051	a0001c0003t0051g0320 a0001c0003t0051g0320	1	410	0.0024	-17	c.28 others(28): Show c.2848_*2864delCTGTGCTGAATGTCCAC	EHF	ENSG00000135373.13	transcript	ENST00000257831.8	protein_coding	9/9	2848	INFO_REALIGN_3_PRIME	chr11	TogoVar
EHMT1_chr9_137614005_137841127	137768529	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	170	0.0059	-17	c.164 others(36): Show c.1647+5731_1647+5747delTTTTTTTTTTTTTTTTT	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	10/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EIF2AK2_chr2_37094210_37161980	37107667	ATTCCCTC others(10): Show ATTCCCTCTCTCCTACAC	A A	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA20300.hp1 NA19043.hp2 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0026 a0001c0002t0023g0027 a0001c0002t0023g0026 a0001c0002t0023g0027	2	326	0.0061	-17	c.148 others(34): Show c.1480-157_1480-141delGTGTAGGAGAGAGGGAA	EIF2AK2	ENSG00000055332.19	transcript	ENST00000233057.9	protein_coding	15/16			chr2	TogoVar
EIF2AK2_chr2_37094210_37161980	37126967	GAAAAAAA others(10): Show GAAAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02257.hp1 HG02615.hp1 others(3): Show HG01074.hp1 HG02257.hp1 HG02615.hp1 HG02717.hp1 HG03139.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0050 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0050 a0001c0002t0073	a0001c0001t0001g0290 a0001c0001t0004g0114 a0001c0001t0004g0115 others(3): Show a0001c0001t0001g0290 a0001c0001t0004g0114 a0001c0001t0004g0115 a0001c0001t0004g0116 a0001c0001t0050g0262 a0001c0002t0073g0318	6	326	0.0184	-17	c.786 others(32): Show c.786-573_786-557delTTTTTTTTTTTTTTTTT	EIF2AK2	ENSG00000055332.19	transcript	ENST00000233057.9	protein_coding	10/16			chr2	TogoVar
EIF2AK2_chr2_37094210_37161980	37145742	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00738.hp2 HG01070.hp1 others(13): Show HG00673.hp2 HG00738.hp2 HG01070.hp1 HG01071.hp1 HG01515.hp1 HG02055.hp2 HG02257.hp1 HG02257.hp2 HG02615.hp2 HG02630.hp2 HG03139.hp2 HG03195.hp2 HG03486.hp2 HG04204.hp2 NA18906.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0013 a0001c0001t0022 a0001c0001t0025 others(8): Show a0001c0001t0013 a0001c0001t0022 a0001c0001t0025 a0001c0001t0074 a0001c0002t0012 a0001c0002t0073 a0001c0002t0077 a0001c0002t0078 a0001c0003t0043 a0001c0003t0064 a0001c0003t0071	a0001c0001t0013g0309 a0001c0001t0013g0310 a0001c0001t0013g0311 others(13): Show a0001c0001t0013g0309 a0001c0001t0013g0310 a0001c0001t0013g0311 a0001c0001t0022g0013 a0001c0001t0022g0014 a0001c0001t0025g0082 a0001c0001t0074g0317 a0001c0002t0012g0312 a0001c0002t0012g0315 a0001c0002t0012g0319 a0001c0002t0073g0318 a0001c0002t0077g0316 a0001c0002t0078g0314 a0001c0003t0043g0150 a0001c0003t0064g0296 a0001c0003t0071g0306	16	326	0.0491	-17	c.240 others(34): Show c.240+1094_240+1110delAAAAAAAAAAAAAAAAA	EIF2AK2	ENSG00000055332.19	transcript	ENST00000233057.9	protein_coding	4/16			chr2	TogoVar
EIF2AK2_chr2_37094210_37161980	37161235	AAAGAAAG others(10): Show AAAGAAAGAAAGAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG02273.hp2 NA18972.hp1 others(1): Show HG00741.hp2 HG02273.hp2 NA18972.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0027 a0001c0001t0001 a0001c0001t0005 a0001c0001t0027	a0001c0001t0001g0236 a0001c0001t0005g0095 a0001c0001t0005g0139 others(1): Show a0001c0001t0001g0236 a0001c0001t0005g0095 a0001c0001t0005g0139 a0001c0001t0027g0161	4	326	0.0123	-17	c.-45 others(28): Show c.-4528_-4512delCTTTCTCTTTCTTTCTT	EIF2AK2	ENSG00000055332.19	transcript	ENST00000233057.9	protein_coding		4256		chr2	TogoVar
EIF2AK2_chr2_37094210_37161980	37161246	GAGAAAGA others(10): Show GAGAAAGAAAAGAAAGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 NA18906.hp1 HG02280.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0030 a0001c0001t0007 a0001c0001t0030	a0001c0001t0007g0012 a0001c0001t0030g0304 a0001c0001t0007g0012 a0001c0001t0030g0304	2	326	0.0061	-17	c.-45 others(28): Show c.-4539_-4523delTTCTTTCTTTTCTTTCT	EIF2AK2	ENSG00000055332.19	transcript	ENST00000233057.9	protein_coding		4267		chr2	TogoVar
EIF2B3_chr1_44845522_44991595	44917755	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02055.hp1 HG02257.hp1 others(21): Show HG01167.hp2 HG02055.hp1 HG02257.hp1 HG02486.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02723.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02976.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp2 NA19043.hp1 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0005	a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0259 others(21): Show a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0259 a0001c0001t0001g0278 a0001c0001t0002g0100 a0001c0002t0001g0230 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0238 a0001c0002t0001g0239 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0005g0231	24	322	0.0745	-17	c.566 others(34): Show c.566+8856_566+8872delAAAAAAAAAAAAAAAAA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	5/11			chr1	TogoVar
EIF2B5_chr3_184130358_184150311	184135951	GGTAATAT others(10): Show GGTAATATGCCTTAAAAA	G G	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	426	0.0024	-17	c.195 others(32): Show c.195+373_195+389delTAATATGCCTTAAAAAG	EIF2B5	ENSG00000145191.15	transcript	ENST00000648915.2	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
EIF3A_chr10_119028670_119085817	119066505	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	350	0.0029	-17	c.951 others(32): Show c.951-952_951-936delTTTTTTTTTTTTTTTTT	EIF3A	ENSG00000107581.14	transcript	ENST00000369144.8	protein_coding	6/21			chr10	TogoVar
EIF3CL_chr16_28374715_28408841	28386775	CACACACC others(10): Show CACACACCCCTAAAAGAT	C C	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0002 a0001c0012t0002	a0001c0012t0002g0009 a0001c0012t0002g0009	1	172	0.0058	-17	c.182 others(36): Show c.1821+1266_1821+1282delATCTTTTAGGGGTGTGT	EIF3CL	ENSG00000205609.13	transcript	ENST00000380876.5	protein_coding	15/20			chr16	TogoVar
EIF3G_chr19_10110014_10124899	10122882	GATGTAAC others(10): Show GATGTAACATATAAATAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0033 a0001c0002t0002g0033	1	458	0.0022	-17	c.-30 others(28): Show c.-3040_-3024delATATTTATATGTTACAT	EIF3G	ENSG00000130811.12	transcript	ENST00000253108.9	protein_coding		2984		chr19	TogoVar
EIF4A1_chr17_7567825_7584006	7571836	TTTATATA others(10): Show TTTATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 NA18612.hp1 HG02735.hp2 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0010t0001 a0001c0001t0001 a0001c0010t0001	a0001c0001t0001g0004 a0001c0010t0001g0004 a0001c0001t0001g0004 a0001c0010t0001g0004	2	436	0.0046	-17	c.-10 others(27): Show c.-1005_-989delTTATATATATATATATA	EIF4A1	ENSG00000161960.16	transcript	ENST00000293831.13	protein_coding		988		chr17	TogoVar
EIF4A1_chr17_7567825_7584006	7573020	CGGCCGAC others(10): Show CGGCCGACGCGGCCACCA	C C	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18997.hp1 NA18967.hp2 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0025 a0001c0001t0007g0025 a0001c0001t0001g0025 a0001c0001t0007g0025	2	436	0.0046	-17	c.23+ others(30): Show c.23+159_23+175delCCGACGCGGCCACCAGG	EIF4A1	ENSG00000161960.16	transcript	ENST00000293831.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
EIF4A3_chr17_80129369_80152128	80144792	CTGCAGGG others(10): Show CTGCAGGGTGTCCTATGT	C C	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0202 a0001c0001t0009g0202	1	420	0.0024	-17	c.170 others(32): Show c.170-565_170-549delACATAGGACACCCTGCA	EIF4A3	ENSG00000141543.12	transcript	ENST00000649764.2	protein_coding	1/11			chr17	TogoVar
EIF4EBP2_chr10_70399145_70433618	70408177	CCCGGACG others(10): Show CCCGGACGGGGCGGCTGG	C C	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0095 a0001c0001t0004g0095	1	422	0.0024	-17	c.145 others(34): Show c.145+3636_145+3652delACGGGGCGGCTGGCCGG	EIF4EBP2	ENSG00000148730.7	transcript	ENST00000373218.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
EIF4ENIF1_chr22_31434367_31494842	31477367	AAAAAAAA others(10): Show AAAAAAAACAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0269 a0001c0003t0001g0269	1	366	0.0027	-17	c.97- others(32): Show c.97-5467_97-5451delGTTTTTTTTGTTTTTTT	EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	2/18			chr22	TogoVar

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