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
DZIP1_chr13_95573202_95649706	95575590	C C	CGTGTGTG others(35): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0011 a0003c0003t0011	a0003c0003t0011g0137 a0003c0003t0011g0137	1	283	0.0035	42	c.66 others(53): Show c.6643_*6644insACACACACACACACACACACACACACACACACAC ACACACAC	DZIP1	ENSG00000134874.18	transcript	ENST00000376829.7	protein_coding		2611		chr13	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(35): Show ACACACACACACACACACACACACTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02258.hp2 NA18972.hp1 others(1): Show HG00423.hp1 HG02258.hp2 NA18972.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0047 a0001c0001t0001g0096 others(1): Show a0001c0001t0001g0010 a0001c0001t0001g0047 a0001c0001t0001g0096 a0001c0001t0001g0201	4	21	0.1905	42	c.696 others(59): Show c.696+1880_696+1881insACACACACACACACACACACACTCTCTC TCTCTCTCTCTCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(35): Show ACACACACACACACACACACACTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG02165.hp1 NA18998.hp1 HG01928.hp2 HG02165.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0101 a0001c0001t0001g0108 a0001c0001t0001g0031 a0001c0001t0001g0101 a0001c0001t0001g0108	3	20	0.1500	42	c.696 others(59): Show c.696+1880_696+1881insACACACACACACACACACACTCTCTCTC TCTCTCTCTCTCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(35): Show ACACACACACACACACACACTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03704.hp2 NA18974.hp1 HG03704.hp2 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0057 a0001c0001t0001g0050 a0001c0001t0001g0057	2	19	0.1053	42	c.696 others(59): Show c.696+1880_696+1881insACACACACACACACACACTCTCTCTCTC TCTCTCTCTCTCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(35): Show ACACACACACACACACTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	18	0.0556	42	c.696 others(59): Show c.696+1880_696+1881insACACACACACACACTCTCTCTCTCTCTC TCTCTCTCTCTCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(35): Show ACACACACACACACTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	18	0.0556	42	c.696 others(59): Show c.696+1880_696+1881insACACACACACACTCTCTCTCTCTCTCTC TCTCTCTCTCTCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
EBPL_chr13_49655674_49696486	49664400	G G	GGCTCTCA others(35): Show GGCTCTCACACAGTCTCAGCTGTGCTGCTTGGGGAGCCAGTGT	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	408	0.0025	42	c.242 others(59): Show c.242-1247_242-1206dupACACTGGCTCCCCAAGCAGCACAGCTGA GACTGTGTGAGAGC	EBPL	ENSG00000123179.14	transcript	ENST00000242827.11	protein_coding	2/3			chr13	TogoVar
ECM2_chr9_92490315_92540990	92533328	A A	AAAAAAAA others(35): Show AAAAAAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	152	0.0066	42	c.-28 others(59): Show c.-28+2604_-28+2605insATATATATATATATATATATATATATAT ATATATATTTTTTT	ECM2	ENSG00000106823.13	transcript	ENST00000344604.10	protein_coding	1/9			chr9	TogoVar
ECPAS_chr9_111355685_111489383	111468689	C C	CGTGTGTG others(35): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0258 a0002c0003t0001g0258	1	293	0.0034	42	c.22+ others(57): Show c.22+4207_22+4208insACACACACACACACACACACACACACACAC ACACACACACAC	ECPAS	ENSG00000136813.15	transcript	ENST00000684092.1	protein_coding	2/49			chr9	TogoVar
ECSCR_chr5_139443560_139467743	139446465	T T	TTTTCTTT others(35): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	134	0.0075	42	c.24 others(53): Show c.2434_*2435insGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAA	ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding		2094		chr5	TogoVar
ECSCR_chr5_139443560_139467743	139446467	T T	TTCTTTCT others(35): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	360	0.0028	42	c.24 others(53): Show c.2432_*2433insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGA	ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding		2092		chr5	TogoVar
ECSCR_chr5_139443560_139467743	139446471	T T	TTCTTTCT others(35): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	358	0.0028	42	c.24 others(53): Show c.2428_*2429insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGA	ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding		2088		chr5	TogoVar
ECSCR_chr5_139443560_139467743	139446475	T T	TTCTTTCT others(35): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG01168.hp2 HG02148.hp1 others(1): Show HG00733.hp2 HG01168.hp2 HG02148.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0031 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0031 a0001c0001t0001g0090	4	356	0.0112	42	c.24 others(53): Show c.2424_*2425insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGA	ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding		2084		chr5	TogoVar
ECSCR_chr5_139443560_139467743	139446479	T T	TTCTTTCT others(35): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG02040.hp1 NA18992.hp2 HG01175.hp1 HG02040.hp1 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0001 a0001c0001t0001g0005	3	351	0.0085	42	c.24 others(53): Show c.2420_*2421insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGA	ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding		2080		chr5	TogoVar
ECT2L_chr6_138791087_138909070	138791252	T T	TCAAACCA others(35): Show TCAAACCAACACCCCACACAAACCCCAACACAACCACACAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0092 a0001c0001t0006g0092	1	324	0.0031	42	c.-51 others(53): Show c.-5184_-5183insCAAACCAACACCCCACACAAACCCCAACACAACC ACACAAAC	ECT2L	ENSG00000203734.13	transcript	ENST00000541398.7	protein_coding		4834		chr6	TogoVar
EDA_chrX_69611113_70044472	69645584	T T	TTATATAT others(35): Show TTATATATATATATATATATATATATATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18998.hp1 NA18952.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0167 a0001c0001t0002g0168	2	49	0.0408	42	c.396 others(61): Show c.396+28889_396+28890insATATATATATATATATATATATATAT ATGTGTGTATATATAT	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(35): Show CTCCCTCCCCCCTTCCTTTTCTTCCTCCCTCCCTCCCCCTCTT	intron_variant intron_variant	MODIFIER	HG04228.hp2 NA19056.hp1 HG04228.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0191 a0001c0001t0003g0012 a0001c0001t0002g0191 a0001c0001t0003g0012	2	305	0.0066	42	c.423 others(57): Show c.423+486_423+487insTCCCTCCCCCCTTCCTTTTCTTCCTCCCTC CCTCCCCCTCTT	EDDM13	ENSG00000267710.9	transcript	ENST00000649256.2	protein_coding	13/14			chr19	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124769233	A A	AAAAAAAA others(35): Show AAAAAAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0146 a0001c0001t0003g0146	1	184	0.0054	42	c.400 others(59): Show c.400-3626_400-3625insATATATATATATATATATATATATATTT TTTTTTTTTTTTTT	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	4/6			chr10	TogoVar
EEFSEC_chr3_128148481_128413646	128152985	C C	CCCCCGTC others(35): Show CCCCCGTCTTCCCCCCGCCCCCCCCGCCCCCCCGCCCCCCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	270	0.0037	42	c.-52 others(51): Show c.-523_-522insCCCCGTCTTCCCCCCGCCCCCCCCGCCCCCCCGCCC CCCCCG	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding		495		chr3	TogoVar
EEIG1_chr9_127935582_127985989	127985676	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATATATATATATACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	262	0.0038	42	c.-55 others(53): Show c.-5540_-5539insGTGTATATATATATATATATATATATATATATAT ATATATAT	EEIG1	ENSG00000167106.12	transcript	ENST00000373095.6	protein_coding		4688		chr9	TogoVar
EFCAB11_chr14_89789669_89959730	89881452	C C	CATATATA others(35): Show CATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02015.hp2 HG02257.hp2 others(5): Show HG01192.hp1 HG02015.hp2 HG02257.hp2 HG02280.hp1 HG02559.hp1 NA18955.hp2 NA19007.hp1 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0015	a0001c0001t0001g0098 a0001c0001t0002g0038 a0001c0001t0004g0163 others(5): Show a0001c0001t0001g0098 a0001c0001t0002g0038 a0001c0001t0004g0163 a0001c0001t0005g0034 a0001c0001t0005g0138 a0001c0001t0008g0178 a0001c0001t0010g0236 a0001c0001t0015g0027	8	72	0.1111	42	c.410 others(61): Show c.410+50088_410+50089insATATATATATATATATATATATATAT ATATATATATATATAT	EFCAB11	ENSG00000140025.16	transcript	ENST00000316738.12	protein_coding	5/5			chr14	TogoVar
EFCAB11_chr14_89789669_89959730	89881452	C C	CGCATATA others(35): Show CGCATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0042 a0001c0002t0042	a0001c0002t0042g0227 a0001c0002t0042g0227	1	65	0.0154	42	c.410 others(61): Show c.410+50088_410+50089insATATATATATATATATATATATATAT ATATATATATATATGC	EFCAB11	ENSG00000140025.16	transcript	ENST00000316738.12	protein_coding	5/5			chr14	TogoVar
EFCAB6_chr22_43523778_43817305	43784556	T T	TACACATA others(35): Show TACACATATATGTGTATATATACACATATATGTGTATATATAC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	229	0.0044	42	c.-7- others(57): Show c.-7-2232_-7-2231insGTATATATACACATATATGTGTATATATAC ACATATATGTGT	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	2/31			chr22	TogoVar
EFEMP1_chr2_55860967_55928782	55865188	A A	AATATATA others(35): Show AATATATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0266 a0003c0005t0001g0266	1	265	0.0038	42	c.18 others(53): Show c.1884_*1885insATATATATATATATATATATATATATATATATAT ATATATAT	EFEMP1	ENSG00000115380.20	transcript	ENST00000355426.8	protein_coding		778		chr2	TogoVar
EFHC2_chrX_44142872_44348672	44187135	G G	GTATATAT others(35): Show GTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18981.hp1 NA18988.hp1 others(3): Show NA18953.hp1 NA18981.hp1 NA18988.hp1 NA19058.hp1 NA19079.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0001 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0039 a0001c0001t0003g0118 a0001c0001t0003g0123 others(3): Show a0001c0001t0001g0039 a0001c0001t0003g0118 a0001c0001t0003g0123 a0001c0001t0003g0153 a0001c0001t0005g0080 a0001c0001t0005g0116	6	94	0.0638	42	c.175 others(61): Show c.1752-8572_1752-8571insTATATATATATATATATATATATATA TATATATATATATATA	EFHC2	ENSG00000183690.13	transcript	ENST00000420999.2	protein_coding	11/14			chrX	TogoVar
EFL1_chr15_82125233_82267734	82211595	G G	GACACACA others(35): Show GACACACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01257.hp1 HG01433.hp2 others(8): Show HG00408.hp2 HG01257.hp1 HG01433.hp2 HG01515.hp1 HG01517.hp1 HG02486.hp2 HG02683.hp2 HG02895.hp2 HG03540.hp2 NA18522.hp2 NA18947.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0009	a0001c0005 a0002c0002 a0005c0009 others(1): Show a0001c0005 a0002c0002 a0005c0009 a0009c0012	a0001c0005t0001 a0002c0002t0001 a0005c0009t0001 others(1): Show a0001c0005t0001 a0002c0002t0001 a0005c0009t0001 a0009c0012t0001	a0001c0005t0001g0013 a0001c0005t0001g0014 a0001c0005t0001g0017 others(8): Show a0001c0005t0001g0013 a0001c0005t0001g0014 a0001c0005t0001g0017 a0001c0005t0001g0019 a0001c0005t0001g0025 a0001c0005t0001g0061 a0001c0005t0001g0345 a0002c0002t0001g0074 a0002c0002t0001g0127 a0005c0009t0001g0006 a0009c0012t0001g0065	11	174	0.0632	42	c.175 others(61): Show c.1750+3121_1750+3122insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGT	EFL1	ENSG00000140598.16	transcript	ENST00000268206.12	protein_coding	15/19			chr15	TogoVar
EFNA2_chr19_1280873_1306431	1300399	C C	CGGGAACA others(35): Show CGGGAACACAGCCGCTCCCCTCTGCTCTGCACCCCACTCGTGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp1 HG00735.hp1 HG03239.hp1 others(3): Show HG00140.hp1 HG00735.hp1 HG03239.hp1 HG03516.hp2 HG03654.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0042 a0001c0001t0060 others(2): Show a0001c0001t0022 a0001c0001t0042 a0001c0001t0060 a0001c0001t0062 a0001c0001t0075	a0001c0001t0022g0002 a0001c0001t0022g0069 a0001c0001t0042g0103 others(3): Show a0001c0001t0022g0002 a0001c0001t0022g0069 a0001c0001t0042g0103 a0001c0001t0060g0145 a0001c0001t0062g0002 a0001c0001t0075g0090	6	269	0.0223	42	c.59 others(51): Show c.592_*633dupCGCTCCCCTCTGCTCTGCACCCCACTCGTGGGGGAA CACAGC	EFNA2	ENSG00000099617.4	transcript	ENST00000215368.4	protein_coding	4/4	634	INFO_REALIGN_3_PRIME	chr19	TogoVar
EFNA2_chr19_1280873_1306431	1300537	C C	CGCTCCCC others(35): Show CGCTCCCCTCTGCTCTGCACCCCACTCGTGGGGGAACACAGCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00733.hp1 HG01433.hp2 HG01891.hp2 others(14): Show HG00733.hp1 HG01433.hp2 HG01891.hp2 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02622.hp1 HG02647.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02976.hp1 HG03130.hp1 HG03453.hp1 HG03704.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0023 a0001c0001t0025 others(7): Show a0001c0001t0008 a0001c0001t0023 a0001c0001t0025 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046	a0001c0001t0008g0012 a0001c0001t0008g0023 a0001c0001t0008g0047 others(12): Show a0001c0001t0008g0012 a0001c0001t0008g0023 a0001c0001t0008g0047 a0001c0001t0008g0098 a0001c0001t0023g0081 a0001c0001t0023g0121 a0001c0001t0025g0048 a0001c0001t0025g0124 a0001c0001t0038g0158 a0001c0001t0039g0071 a0001c0001t0040g0043 a0001c0001t0041g0050 a0001c0001t0044g0053 a0001c0001t0045g0072 a0001c0001t0046g0123	17	292	0.0582	42	c.59 others(51): Show c.595_*636dupTCCCCTCTGCTCTGCACCCCACTCGTGGGGGAACAC AGCTGC	EFNA2	ENSG00000099617.4	transcript	ENST00000215368.4	protein_coding	4/4	637	INFO_REALIGN_3_PRIME	chr19	TogoVar
EFNA5_chr5_107371894_107675937	107476046	C C	CTATATAT others(35): Show CTATATATATATATATATATATATATATATATATATATATGTA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02717.hp2 NA19030.hp1 HG02486.hp1 HG02717.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0003 a0001c0001t0012	a0001c0001t0003g0068 a0001c0001t0012g0112 a0001c0001t0012g0113 a0001c0001t0003g0068 a0001c0001t0012g0112 a0001c0001t0012g0113	3	73	0.0411	42	c.126 others(61): Show c.126-48538_126-48537insTACATATATATATATATATATATATA TATATATATATATATA	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EFNA5_chr5_107371894_107675937	107476046	C C	CTATATAT others(35): Show CTATATATATATATATATATATATATATATATATATATGTATA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03704.hp2 NA18957.hp1 others(3): Show HG03195.hp1 HG03704.hp2 NA18957.hp1 NA18983.hp1 NA18994.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0043 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0043 a0001c0001t0082	a0001c0001t0001g0162 a0001c0001t0002g0104 a0001c0001t0002g0135 others(3): Show a0001c0001t0001g0162 a0001c0001t0002g0104 a0001c0001t0002g0135 a0001c0001t0002g0137 a0001c0001t0043g0025 a0001c0001t0082g0055	6	76	0.0789	42	c.126 others(61): Show c.126-48538_126-48537insTATACATATATATATATATATATATA TATATATATATATATA	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EGFR_chr7_55014017_55216628	55167030	T T	TGTTACTG others(35): Show TGTTACTGGTGGTGACGAGGTGGGAGTCACAATGGTGGTGGTG	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0232 a0001c0003t0010g0232	1	246	0.0041	42	c.188 others(61): Show c.1880+1593_1880+1594insGTTACTGGTGGTGACGAGGTGGGAGT CACAATGGTGGTGGTG	EGFR	ENSG00000146648.21	transcript	ENST00000275493.7	protein_coding	15/27			chr7	TogoVar
EHD3_chr2_31229152_31274451	31245553	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0187 a0001c0001t0014g0187	1	335	0.0030	42	c.404 others(59): Show c.404+1104_404+1105insATATATATATATATATATATATATATAT ATATATATATATTT	EHD3	ENSG00000013016.16	transcript	ENST00000322054.10	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
EHMT1_chr9_137614005_137841127	137781011	T T	TGTGTGGT others(35): Show TGTGTGGTGATGACGCCGAGACATGTGGTGATGACGCCGAGAC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03486.hp2 NA20300.hp1 HG02145.hp1 HG03486.hp2 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0001 a0001c0003t0001g0084 a0001c0003t0001g0103 a0001c0003t0001g0001 a0001c0003t0001g0084 a0001c0003t0001g0103	3	152	0.0197	42	c.227 others(61): Show c.2276-1259_2276-1258insATGTGGTGATGACGCCGAGACGTGTG GTGATGACGCCGAGAC	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EIF2AK1_chr7_6017247_6064175	6045733	T T	TTATATAT others(35): Show TTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18993.hp1 NA20905.hp2 NA18986.hp2 NA18993.hp1 NA20905.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0251 a0002c0003t0001g0257 a0002c0003t0001g0258 a0002c0003t0001g0251 a0002c0003t0001g0257 a0002c0003t0001g0258	3	305	0.0098	42	c.630 others(57): Show c.630+337_630+338insTATATATATATATATATATATATATATATA TATATATATATA	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	6/14			chr7	TogoVar
EIF2AK1_chr7_6017247_6064175	6056613	A A	AAAAAAAA others(35): Show AAAAAAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0066 a0001c0001t0003g0066	1	129	0.0078	42	c.119 others(59): Show c.119-1910_119-1909insATATATATATATATATATATATATTTTT TTTTTTTTTTTTTT	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF2AK1_chr7_6017247_6064175	6056613	A A	AAAAAAAA others(35): Show AAAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA19240.hp2 HG03041.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0043 a0001c0001t0003g0044	2	130	0.0154	42	c.119 others(59): Show c.119-1910_119-1909insATATATATATATATATATATATATATAT ATATATTTTTTTTT	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF2AK1_chr7_6017247_6064175	6056613	A A	AATATATA others(35): Show AATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0301 a0001c0001t0004g0301	1	129	0.0078	42	c.119 others(59): Show c.119-1910_119-1909insATATATATATATATATATATATATATAT ATATATATATATAT	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF3A_chr10_119028670_119085817	119052368	T T	TTGTGTGT others(35): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01358.hp1 HG02257.hp2 others(5): Show HG01069.hp1 HG01358.hp1 HG02257.hp2 HG02683.hp2 HG03139.hp2 NA18954.hp1 NA18999.hp1 NA19084.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0007c0008 a0001c0001 a0001c0002 a0007c0008	a0001c0001t0002 a0001c0002t0003 a0007c0008t0002 a0001c0001t0002 a0001c0002t0003 a0007c0008t0002	a0001c0001t0002g0039 a0001c0001t0002g0061 a0001c0001t0002g0072 others(5): Show a0001c0001t0002g0039 a0001c0001t0002g0061 a0001c0001t0002g0072 a0001c0001t0002g0075 a0001c0001t0002g0095 a0001c0001t0002g0141 a0001c0002t0003g0024 a0007c0008t0002g0056	8	16	0.5000	42	c.219 others(61): Show c.2197-1048_2197-1047insCACACACACACACACACACACACACA CACACACACACACACA	EIF3A	ENSG00000107581.14	transcript	ENST00000369144.8	protein_coding	14/21			chr10	TogoVar
EIF4A3_chr17_80129369_80152128	80147047	C C	CTGTGCCG others(35): Show CTGTGCCGCTGCCGACCTCGCTGTGCCGCTGCCGACCTCGCTG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0071 a0001c0001t0034g0071	1	146	0.0068	42	c.-87 others(49): Show c.-87_-86insCAGCGAGGTCGGCAGCGGCACAGCGAGGTCGGCAGCGG CACA	EIF4A3	ENSG00000141543.12	transcript	ENST00000649764.2	protein_coding	1/12	87		chr17	TogoVar
EIF4ENIF1_chr22_31434367_31494842	31464699	A A	AAAAAAAA others(35): Show AAAAAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03831.hp1 NA18989.hp1 NA19012.hp1 HG03831.hp1 NA18989.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0303 a0001c0001t0001g0306 a0001c0003t0001g0327 a0001c0001t0001g0303 a0001c0001t0001g0306 a0001c0003t0001g0327	3	197	0.0152	42	c.299 others(57): Show c.299-733_299-732insATATATATATATATATATATATATATATTT TTTTTTTTTTTT	EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	4/18			chr22	TogoVar
EIF4G3_chr1_20801479_21181897	20841857	C C	CAAGGGGG others(35): Show CAAGGGGGAGGATGTAGGTAGGAAGGGGGAGGATGTAGGTAGG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01256.hp1 HG01952.hp1 others(22): Show HG01069.hp1 HG01256.hp1 HG01952.hp1 HG02015.hp1 HG02040.hp2 HG02602.hp1 HG03239.hp1 HG03710.hp1 HG03927.hp1 HG03927.hp2 NA18942.hp1 NA18943.hp2 NA18947.hp2 NA18960.hp2 NA18966.hp1 NA18979.hp1 NA18988.hp2 NA19004.hp1 NA19010.hp1 NA19070.hp1 NA19074.hp1 NA19078.hp1 NA19078.hp2 NA19085.hp2 NA19091.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0012 a0001c0001 a0007c0012	a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 others(4): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0017 a0001c0001t0023 a0007c0012t0002	a0001c0001t0004g0210 a0001c0001t0004g0211 a0001c0001t0004g0212 others(22): Show a0001c0001t0004g0210 a0001c0001t0004g0211 a0001c0001t0004g0212 a0001c0001t0004g0213 a0001c0001t0004g0215 a0001c0001t0004g0216 a0001c0001t0004g0217 a0001c0001t0004g0218 a0001c0001t0004g0219 a0001c0001t0004g0220 a0001c0001t0004g0221 a0001c0001t0004g0222 a0001c0001t0004g0224 a0001c0001t0004g0225 a0001c0001t0004g0227 a0001c0001t0004g0230 a0001c0001t0004g0231 a0001c0001t0004g0232 a0001c0001t0006g0181 a0001c0001t0007g0012 a0001c0001t0010g0214 a0001c0001t0010g0228 a0001c0001t0017g0031 a0001c0001t0023g0299 a0007c0012t0002g0044	25	302	0.0828	42	c.388 others(59): Show c.3889-871_3889-830dupCCTACCTACATCCTCCCCCTTCCTACCT ACATCCTCCCCCTT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	29/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21180122	T T	TACATATA others(35): Show TACATATATTACGTAATATATGTTATATATTACATAATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	306	0.0033	42	c.-38 others(53): Show c.-3857_-3856insTATATATTATGTAATATATAACATATATTACGTA ATATATGT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding		3226		chr1	TogoVar
EIPR1_chr2_3183970_3382818	3331176	G G	GGCGTGTA others(35): Show GGCGTGTAGACACCCATGAGATGGTGTCAGCAGAGGCAGGTGT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG03834.hp1 HG02015.hp2 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0149 a0001c0001t0002g0148 a0001c0001t0001g0149 a0001c0001t0002g0148	2	217	0.0092	42	c.259 others(59): Show c.259+6840_259+6841insACACCTGCCTCTGCTGACACCATCTCAT GGGTGTCTACACGC	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3331179	G G	GTGTATAC others(35): Show GTGTATACACCCATGAGATGGTGTCAGCAGAGGCAGGTGTGTA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02647.hp2 HG02965.hp1 others(2): Show HG02257.hp1 HG02647.hp2 HG02965.hp1 HG02970.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0045 others(2): Show a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0188 a0001c0001t0004g0042	5	135	0.0370	42	c.259 others(59): Show c.259+6837_259+6838insTACACACCTGCCTCTGCTGACACCATCT CATGGGTGTATACA	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3331179	G G	GTGTATAC others(35): Show GTGTATACACTCACGAGATGGTGTCAGCAGAGGCAGGTGTGTA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00544.hp1 HG00738.hp2 others(24): Show HG00140.hp1 HG00544.hp1 HG00738.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01243.hp1 HG01255.hp1 HG01346.hp1 HG03225.hp2 NA18747.hp2 NA18947.hp2 NA18950.hp2 NA18952.hp1 NA18957.hp1 NA18963.hp2 NA18970.hp1 NA18995.hp2 NA18999.hp2 NA19004.hp1 NA19005.hp1 NA19011.hp1 NA19012.hp1 NA19043.hp1 NA19064.hp2 NA19085.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0001	a0001c0001t0001g0017 a0001c0001t0001g0126 a0001c0001t0001g0127 others(24): Show a0001c0001t0001g0017 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0227 a0001c0001t0002g0115 a0001c0001t0002g0207 a0001c0001t0003g0015 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0217 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0228 a0001c0001t0003g0230 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0003t0001g0095 a0001c0003t0001g0193	27	157	0.1720	42	c.259 others(59): Show c.259+6837_259+6838insTACACACCTGCCTCTGCTGACACCATCT CGTGAGTGTATACA	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
ELAC1_chr18_50963040_50993121	50988486	T T	TCTCTCTC others(35): Show TCTCTCTCAACAACAACAACGGAGGAGGGGGGGAAAAAAGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	382	0.0026	42	c.14 others(53): Show c.1401_*1402insCTCTCTCAACAACAACAACGGAGGAGGGGGGGAA AAAAGGGG	ELAC1	ENSG00000141642.9	transcript	ENST00000269466.8	protein_coding		366		chr18	TogoVar
ELAC2_chr17_12986612_13023027	13022551	T T	TTCCTTCC others(35): Show TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0104 a0002c0002t0005g0104	1	382	0.0026	42	c.-46 others(53): Show c.-4605_-4604insGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGA	ELAC2	ENSG00000006744.19	transcript	ENST00000338034.9	protein_coding		4525		chr17	TogoVar
ELAPOR1_chr1_109109115_109211781	109113415	A A	AGAGAGAG others(35): Show AGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0003 a0003	a0003c0031 a0003c0031	a0003c0031t0004 a0003c0031t0004	a0003c0031t0004g0088 a0003c0031t0004g0088	1	225	0.0044	42	c.-76 others(51): Show c.-769_-768insGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA GGGAGG	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding		699		chr1	TogoVar
ELAVL1_chr19_7953573_8010641	7957359	G G	GAAAGAAA others(35): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0183 a0001c0001t0002g0183	1	176	0.0057	42	c.61 others(53): Show c.6123_*6124insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTT	ELAVL1	ENSG00000066044.15	transcript	ENST00000407627.7	protein_coding		1213		chr19	TogoVar
ELF1_chr13_40926924_41024316	40955789	C C	CCGCCCGG others(35): Show CCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0307 a0009c0010t0001g0307	1	357	0.0028	42	c.253 others(59): Show c.253+3046_253+3047insAGAGGCGCCCCTCACCTCCCGGACGGGG CGGCTGGCCGGGCG	ELF1	ENSG00000120690.16	transcript	ENST00000239882.7	protein_coding	3/8			chr13	TogoVar

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