Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
EPHX4_chr1_92024985_92068538	92030490	G G	GTGTGTGT others(19): Show GTGTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02630.hp1 HG03471.hp2 HG01169.hp1 HG02630.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0199 a0001c0001t0002g0198 a0001c0001t0002g0200 a0001c0001t0001g0199 a0001c0001t0002g0198 a0001c0001t0002g0200	3	223	0.0135	26	c.231 others(41): Show c.231+180_231+181insTGTGTGTGTGTGTGTGTGTGTGTGTA	EPHX4	ENSG00000172031.7	transcript	ENST00000370383.5	protein_coding	1/6			chr1	TogoVar
EPN2_chr17_19232366_19341715	19289724	G G	GTTTTGTT others(19): Show GTTTTGTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA19088.hp2 NA18972.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0086 a0001c0001t0001g0067 a0001c0001t0001g0086	2	51	0.0392	26	c.766 others(43): Show c.766+3938_766+3939insGTTTTTTTTTTTTTTTTTTTTTTTTT	EPN2	ENSG00000072134.16	transcript	ENST00000314728.10	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
EPN2_chr17_19232366_19341715	19318549	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0054	1	42	0.0238	26	c.114 others(45): Show c.1147+5288_1147+5289insAAAAAAAAAAAAAAAAAAAAAAAAAA	EPN2	ENSG00000072134.16	transcript	ENST00000314728.10	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
EPOR_chr19_11372207_11389314	11384667	T T	TTCTCTCT others(19): Show TTCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 NA18948.hp1 HG03098.hp2 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0003 a0001c0001t0001g0010	2	220	0.0091	26	c.-48 others(35): Show c.-486_-461dupGAGAGAGAGAGAGAGAGAGAGAGAGA	EPOR	ENSG00000187266.14	transcript	ENST00000222139.11	protein_coding		354		chr19	TogoVar
EPOR_chr19_11372207_11389314	11384701	C C	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTCTCTCTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp1 NA18955.hp2 HG01358.hp1 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0003 a0001c0001t0001g0010	2	402	0.0050	26	c.-49 others(35): Show c.-495_-494insAGGAGAGAGAGAGAGAGAGAGAGAGA	EPOR	ENSG00000187266.14	transcript	ENST00000222139.11	protein_coding		388		chr19	TogoVar
EPRS1_chr1_219963600_220051505	219971795	T T	TATATATA others(19): Show TATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0010 a0001c0001t0004g0010	1	197	0.0051	26	c.432 others(43): Show c.4323+273_4323+274insGTGTGTATATATATATATATATATAT	EPRS1	ENSG00000136628.18	transcript	ENST00000366923.8	protein_coding	30/31			chr1	TogoVar
EPRS1_chr1_219963600_220051505	220044681	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0315 a0001c0001t0002g0315	1	13	0.0769	26	c.46+ others(41): Show c.46+1636_46+1661dupTTTTTTTTTTTTTTTTTTTTTTTTTT	EPRS1	ENSG00000136628.18	transcript	ENST00000366923.8	protein_coding	1/31			chr1	TogoVar
EPS15_chr1_51349263_51524266	51489303	A A	ATATATAT others(19): Show ATATATATATATATATATATATGTATG	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0004 a0002c0001t0004	a0002c0001t0004g0042 a0002c0001t0004g0042	1	149	0.0067	26	c.34- others(41): Show c.34-7990_34-7989insCATACATATATATATATATATATATA	EPS15	ENSG00000085832.18	transcript	ENST00000371733.8	protein_coding	1/24			chr1	TogoVar
EPSTI1_chr13_42881388_42997241	42965766	C C	CCTCGTCT others(19): Show CCTCGTCTCCCTCTCCCTCTCCCTCAT	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0277 a0001c0002t0010g0277	1	350	0.0029	26	c.332 others(43): Show c.332-1628_332-1627insATGAGGGAGAGGGAGAGGGAGACGAG	EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding	3/10			chr13	TogoVar
ERAP1_chr5_96769484_96812945	96808187	C C	CGTGTGTG others(19): Show CGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 NA19001.hp2 HG00609.hp2 NA19001.hp2	a0003 a0007 a0003 a0007	a0003c0003 a0007c0007 a0003c0003 a0007c0007	a0003c0003t0003 a0007c0007t0007 a0003c0003t0003 a0007c0007t0007	a0003c0003t0003g0176 a0007c0007t0007g0157 a0003c0003t0003g0176 a0007c0007t0007g0157	2	38	0.0526	26	c.-34 others(35): Show c.-346_-345insACACACACACACACACACACACACAC	ERAP1	ENSG00000164307.13	transcript	ENST00000443439.7	protein_coding		243		chr5	TogoVar
ERAP2_chr5_96871500_96924703	96914148	T T	TCTCACAC others(19): Show TCTCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19088.hp2 NA19010.hp2 NA19088.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0249 a0003c0003t0001g0250 a0003c0003t0001g0249 a0003c0003t0001g0250	2	133	0.0150	26	c.265 others(43): Show c.2657+692_2657+693insTCACACACACACACACACACACACAC	ERAP2	ENSG00000164308.17	transcript	ENST00000437043.8	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERBB2_chr17_39695064_39733658	39724272	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02145.hp2 HG02055.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	2	128	0.0156	26	c.230 others(43): Show c.2307+278_2307+279insTTTTTTTTTTTTTTTTTTTTTTTTTT	ERBB2	ENSG00000141736.14	transcript	ENST00000269571.10	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr17	TogoVar
ERBB4_chr2_211370717_212543802	211421224	C C	CAGTTCAT others(19): Show CAGTTCATGAAAACTAATTTTGGGGAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA19043.hp1 HG02258.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0036 a0001c0002t0001g0048 a0001c0002t0001g0036 a0001c0002t0001g0048	2	56	0.0357	26	c.296 others(43): Show c.2965-639_2965-614dupTTCCCCAAAATTAGTTTTCATGAACT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	24/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211599511	T T	TTGTGTGT others(19): Show TTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0003 a0001c0001t0004g0003	1	42	0.0238	26	c.230 others(47): Show c.2301+19665_2301+19666insCACACACACACACACACACACACA CA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	19/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211599513	C C	CTGTGTGT others(19): Show CTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02922.hp2 HG03834.hp1 HG02258.hp1 HG02922.hp2 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0015 a0001c0002t0001 a0001c0001t0001 a0001c0001t0015 a0001c0002t0001	a0001c0001t0001g0045 a0001c0001t0015g0034 a0001c0002t0001g0048 a0001c0001t0001g0045 a0001c0001t0015g0034 a0001c0002t0001g0048	3	10	0.3000	26	c.230 others(47): Show c.2301+19663_2301+19664insCACACACACACACACACACACACA CA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	19/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211673517	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02717.hp1 HG02809.hp2 others(3): Show HG01069.hp2 HG02717.hp1 HG02809.hp2 HG02922.hp1 HG03195.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 others(3): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0002t0001	a0001c0001t0003g0040 a0001c0001t0007g0018 a0001c0001t0010g0005 others(3): Show a0001c0001t0003g0040 a0001c0001t0007g0018 a0001c0001t0010g0005 a0001c0001t0014g0007 a0001c0001t0015g0034 a0001c0002t0001g0030	6	19	0.3158	26	c.162 others(43): Show c.1623-261_1623-260insTTTTTTTTTTTTTTTTTTTTTTTTTT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	13/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211709252	C C	CACACACA others(19): Show CACACACATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	48	0.0208	26	c.112 others(45): Show c.1124+2797_1124+2798insATATATATATATATATATATGTGTGT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	9/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211709274	T T	TATATATA others(19): Show TATATATATACATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0019 a0001c0002t0016g0019	1	30	0.0333	26	c.112 others(45): Show c.1124+2775_1124+2776insGTATATATATATATATGTATATATAT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	9/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211934926	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0043 a0001c0001t0007g0043	1	20	0.0500	26	c.421 others(45): Show c.421+12503_421+12504insTTTTTTTTTTTTTTTTTTTTTTTTTT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	3/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212206589	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03239.hp2 NA18522.hp2 others(1): Show HG02258.hp2 HG03239.hp2 NA18522.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0001c0001t0009 a0001c0001t0024 others(1): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0024 a0002c0003t0001	a0001c0001t0003g0049 a0001c0001t0009g0046 a0001c0001t0024g0038 others(1): Show a0001c0001t0003g0049 a0001c0001t0009g0046 a0001c0001t0024g0038 a0002c0003t0001g0014	4	24	0.1667	26	c.83- others(43): Show c.83-81687_83-81686insAAAAAAAAAAAAAAAAAAAAAAAAAA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212286767	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0002 a0001c0001t0019g0002	1	10	0.1000	26	c.83- others(45): Show c.83-161865_83-161864insAAAAAAAAAAAAAAAAAAAAAAAAAA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212331058	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01192.hp1 HG03453.hp1 HG01175.hp2 HG01192.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008	a0001c0001t0004g0003 a0001c0001t0005g0015 a0001c0001t0008g0013 a0001c0001t0004g0003 a0001c0001t0005g0015 a0001c0001t0008g0013	3	37	0.0811	26	c.83- others(45): Show c.83-206156_83-206155insTATATATATATATATATATATATATA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212345265	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG03453.hp1 HG03453.hp2 HG01496.hp1 HG03453.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008	a0001c0001t0002g0047 a0001c0001t0004g0003 a0001c0001t0008g0004 a0001c0001t0002g0047 a0001c0001t0004g0003 a0001c0001t0008g0004	3	22	0.1364	26	c.82+ others(45): Show c.82+193183_82+193184insTTTTTTTTTTTTTTTTTTTTTTTTTT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212374021	C C	CATATATA others(19): Show CATATATATATATCCATATATATCCAT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0036 a0001c0002t0001g0036	1	50	0.0200	26	c.82+ others(45): Show c.82+164402_82+164427dupATGGATATATATGGATATATATATAT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212374081	C C	CATATATA others(19): Show CATATATATATATCCATATATATCCAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0018 a0001c0001t0007g0018	1	56	0.0179	26	c.82+ others(45): Show c.82+164367_82+164368insATGGATATATATGGATATATATATAT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212510205	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0022 a0001c0001t0010g0022	1	12	0.0833	26	c.82+ others(43): Show c.82+28218_82+28243dupTATATATATATATATATATATATATA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBIN_chr5_65921575_66087546	65987367	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01256.hp2 NA18963.hp1 HG01256.hp2 NA18963.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0111 a0003c0004t0001g0269 a0001c0001t0001g0111 a0003c0004t0001g0269	2	53	0.0377	26	c.-57 others(43): Show c.-57-1265_-57-1240dupACACACACACACACACACACACACAC	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERBIN_chr5_65921575_66087546	66018466	A A	ATATATAT others(19): Show ATATATATTATATTATATAATATATAT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0197 a0002c0003t0003g0197	1	221	0.0045	26	c.534 others(43): Show c.534-2844_534-2843insTATATAATATATATTATATATTATAT	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	7/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERBIN_chr5_65921575_66087546	66018480	T T	TTATATAA others(19): Show TTATATAATATATATTATATAATATAA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02976.hp2 HG03209.hp1 HG02818.hp2 HG02976.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0043 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0043	3	231	0.0130	26	c.534 others(43): Show c.534-2836_534-2835insATATATATTATATAATATAATATATA	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	7/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERBIN_chr5_65921575_66087546	66018480	T T	TTATATAA others(19): Show TTATATAATATATATTATATTATATAA	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0127 a0003c0004t0001g0127	1	229	0.0044	26	c.534 others(43): Show c.534-2836_534-2835insATATATATTATATTATATAATATATA	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	7/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERC1_chr12_986223_1500931	990948	T T	TGTGTGTG others(19): Show TGTGTGTGAGTGTGTGTGTGTGTGTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0077	a0001c0001t0077g0049 a0001c0001t0077g0049	1	138	0.0072	26	c.-53 others(35): Show c.-531_-530insGTGTGTGAGTGTGTGTGTGTGTGTGA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding		274		chr12	TogoVar
ERC1_chr12_986223_1500931	1093957	C C	CTATATAT others(19): Show CTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03669.hp2 HG02615.hp1 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0015 a0001c0001t0006 a0001c0001t0015	a0001c0001t0006g0120 a0001c0001t0015g0023 a0001c0001t0006g0120 a0001c0001t0015g0023	2	23	0.0870	26	c.108 others(47): Show c.1086+10380_1086+10405dupTATATATATATATATATATATATA TA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1121677	A A	ATCTCTAT others(19): Show ATCTCTATCTCTATCTCTATCTGTGTC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01433.hp2 HG03579.hp1 others(2): Show HG00140.hp1 HG01433.hp2 HG03579.hp1 HG03654.hp1 HG06807.hp1	a0001 a0007 a0008 a0001 a0007 a0008	a0001c0001 a0007c0012 a0008c0011 a0001c0001 a0007c0012 a0008c0011	a0001c0001t0001 a0001c0001t0019 a0001c0001t0021 others(2): Show a0001c0001t0001 a0001c0001t0019 a0001c0001t0021 a0007c0012t0013 a0008c0011t0007	a0001c0001t0001g0007 a0001c0001t0019g0144 a0001c0001t0021g0147 others(2): Show a0001c0001t0001g0007 a0001c0001t0019g0144 a0001c0001t0021g0147 a0007c0012t0013g0067 a0008c0011t0007g0068	5	77	0.0649	26	c.156 others(45): Show c.1569+5647_1569+5648insCTATCTCTATCTCTATCTGTGTCTCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1121677	A A	ATCTCTAT others(19): Show ATCTCTATCTCTATCTGTGTCTCTATC	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0076 a0001c0001t0076	a0001c0001t0076g0033 a0001c0001t0076g0033	1	73	0.0137	26	c.156 others(45): Show c.1569+5647_1569+5648insCTATCTCTATCTGTGTCTCTATCTCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1121759	C C	CTGTGCCT others(19): Show CTGTGCCTATTGATATATCTGTATATA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0085 a0001c0001t0042g0085	1	153	0.0065	26	c.156 others(45): Show c.1569+5727_1569+5728insGTGCCTATTGATATATCTGTATATAT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1121839	C C	CTCTATCT others(19): Show CTCTATCTCTATCTCTATCTCTATCTG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0068	a0001c0001t0068g0003 a0001c0001t0068g0003	1	114	0.0088	26	c.156 others(45): Show c.1569+5807_1569+5808insCTATCTCTATCTCTATCTCTATCTGT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1121905	C C	CTATCTCT others(19): Show CTATCTCTATCTGTGTCTCTATCTCTA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02895.hp2 HG01952.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0068 a0001c0001t0043 a0001c0001t0068	a0001c0001t0043g0156 a0001c0001t0068g0003 a0001c0001t0043g0156 a0001c0001t0068g0003	2	151	0.0132	26	c.156 others(45): Show c.1569+5883_1569+5884insGTGTCTCTATCTCTATATCTCTATCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122127	G G	GCCTATTG others(19): Show GCCTATTGATATATCTGTATATATCTA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0020 a0002c0007t0020	a0002c0007t0020g0071 a0002c0007t0020g0071	1	123	0.0081	26	c.156 others(45): Show c.1569+6094_1569+6095insCCTATTGATATATCTGTATATATCTA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18			chr12	TogoVar
ERC1_chr12_986223_1500931	1122135	C C	CTATCTCT others(19): Show CTATCTCTATCTCTATCTCTATCTCTA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0149 a0002c0002t0009g0149	1	149	0.0067	26	c.156 others(45): Show c.1569+6103_1569+6104insATCTCTATCTCTATCTCTATCTCTAT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122171	C C	CTATCTCT others(19): Show CTATCTCTATCTCTATCTCTATCTCTA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0087 a0002c0002t0087	a0002c0002t0087g0096 a0002c0002t0087g0096	1	150	0.0067	26	c.156 others(45): Show c.1569+6139_1569+6140insATCTCTATCTCTATCTCTATCTCTAT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122343	G G	GCCTATTG others(19): Show GCCTATTGATATATCTGTATATATCTA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01175.hp2 HG01106.hp1 HG01175.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0042 a0003c0004t0001 a0001c0001t0042 a0003c0004t0001	a0001c0001t0042g0085 a0003c0004t0001g0059 a0001c0001t0042g0085 a0003c0004t0001g0059	2	122	0.0164	26	c.156 others(45): Show c.1569+6310_1569+6311insCCTATTGATATATCTGTATATATCTA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18			chr12	TogoVar
ERC1_chr12_986223_1500931	1126986	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0072 a0001c0001t0009g0072	1	16	0.0625	26	c.156 others(47): Show c.1569+10955_1569+10980dupAAAAAAAAAAAAAAAAAAAAAAAA AA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1196838	C C	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTCTCTGTCTG	intron_variant intron_variant	MODIFIER	HG01256.hp2 NA19090.hp2 HG01256.hp2 NA19090.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0005 a0003c0004t0003 a0001c0001t0005 a0003c0004t0003	a0001c0001t0005g0118 a0003c0004t0003g0053 a0001c0001t0005g0118 a0003c0004t0003g0053	2	114	0.0175	26	c.235 others(45): Show c.2351+6791_2351+6792insCTCTCTCTCTCTCTCTGTCTGTCTCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1438954	A A	AAAAAAAA others(19): Show AAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02976.hp2 HG02809.hp2 HG02976.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0033 a0002c0002t0035 a0002c0002t0033 a0002c0002t0035	a0002c0002t0033g0143 a0002c0002t0035g0042 a0002c0002t0033g0143 a0002c0002t0035g0042	2	49	0.0408	26	c.302 others(45): Show c.3025-5607_3025-5606insAAAAAAAAAATATATATATATATATA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1463697	C C	CTGTGTGT others(19): Show CTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02280.hp2 NA18612.hp2 others(1): Show HG01346.hp2 HG02280.hp2 NA18612.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0003 a0001c0003t0002 a0002c0002t0044 others(1): Show a0001c0001t0003 a0001c0003t0002 a0002c0002t0044 a0002c0002t0052	a0001c0001t0003g0034 a0001c0003t0002g0021 a0002c0002t0044g0040 others(1): Show a0001c0001t0003g0034 a0001c0003t0002g0021 a0002c0002t0044g0040 a0002c0002t0052g0145	4	66	0.0606	26	c.321 others(47): Show c.3213+18957_3213+18982dupGTGTGTGTGTGTGTGTGTGTGTGT GT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1493542	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0077	a0001c0001t0077g0049 a0001c0001t0077g0049	1	154	0.0065	26	c.33 others(37): Show c.3313_*3314insTATATATATATATATATATATATATA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	19/19	3314	INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1493544	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0017 a0002c0002t0017	a0002c0002t0017g0077 a0002c0002t0017g0077	1	130	0.0077	26	c.33 others(37): Show c.3315_*3316insTATATATATATATATATATATATATA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	19/19	3316	INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1493548	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0085 a0001c0001t0042g0085	1	22	0.0455	26	c.33 others(37): Show c.3323_*3348dupATATATATATATATATATATATATAT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	19/19	3349	INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC2_chr3_55503311_56473467	56040611	A A	AATATATA others(19): Show AATATATAGATGTATATGTATATATAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02486.hp2 HG03834.hp1 HG01109.hp1 HG02486.hp2 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0002t0004 a0001c0001t0002 a0001c0001t0004 a0001c0002t0004	a0001c0001t0002g0034 a0001c0001t0004g0022 a0001c0002t0004g0001 a0001c0001t0002g0034 a0001c0001t0004g0022 a0001c0002t0004g0001	3	44	0.0682	26	c.164 others(47): Show c.1642-21606_1642-21581dupGTATATATACATATACATCTATAT AT	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	7/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	56340542	A A	ATGTGTGT others(19): Show ATGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	14	0.0714	26	c.658 others(45): Show c.658-44133_658-44108dupCACACACACACACACACACACACACA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	2/17			chr3	TogoVar

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