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
EHMT1_chr9_137614005_137841127	137716361	G G	GTGTTGGT others(25): Show GTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGT	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA19079.hp1 NA19080.hp2 NA18982.hp2 NA19079.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0077 a0001c0001t0002g0079 a0001c0001t0002g0123 a0001c0001t0001g0077 a0001c0001t0002g0079 a0001c0001t0002g0123	3	90	0.0333	32	c.86- others(45): Show c.86-263_86-262insTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137725049	G G	GGGGCAGG others(25): Show GGGGCAGGCGTGTGGCATTTGTGTGGCATTCAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0170 a0001c0009t0001g0170	1	168	0.0060	32	c.643 others(49): Show c.643-3281_643-3250dupTGTGTGGCATTCATGGGCAGGCGTGTGG CATT	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EIF1AX_chrX_20119525_20146838	20122369	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0063 a0001c0001t0008g0063	1	9	0.1111	32	c.59 others(43): Show c.5936_*5937insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	EIF1AX	ENSG00000173674.11	transcript	ENST00000379607.10	protein_coding		2155		chrX	TogoVar
EIF2AK1_chr7_6017247_6064175	6045733	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02074.hp1 HG02135.hp1 others(7): Show HG00438.hp2 HG02074.hp1 HG02135.hp1 HG02145.hp1 HG02273.hp1 NA18946.hp2 NA18953.hp2 NA18981.hp1 NA19084.hp1 NA19088.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0013 a0002c0003t0030 a0002c0003t0001 a0002c0003t0013 a0002c0003t0030	a0002c0003t0001g0011 a0002c0003t0001g0228 a0002c0003t0001g0264 others(6): Show a0002c0003t0001g0011 a0002c0003t0001g0228 a0002c0003t0001g0264 a0002c0003t0001g0266 a0002c0003t0001g0288 a0002c0003t0001g0296 a0002c0003t0001g0386 a0002c0003t0013g0276 a0002c0003t0030g0396	10	312	0.0321	32	c.630 others(47): Show c.630+337_630+338insTATATATATATATATATATATATATATATA TA	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	6/14			chr7	TogoVar
EIF2AK1_chr7_6017247_6064175	6056613	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0140 a0001c0001t0003g0140	1	129	0.0078	32	c.119 others(49): Show c.119-1910_119-1909insATATATATATATATATATTTTTTTTTTT TTTT	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF2AK1_chr7_6017247_6064175	6056613	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA19000.hp1 NA19056.hp2 NA18980.hp2 NA19000.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089	3	131	0.0229	32	c.119 others(49): Show c.119-1910_119-1909insATATATATATATATATATATTTTTTTTT TTTT	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF2AK1_chr7_6017247_6064175	6056613	A A	AAAAAAAA others(25): Show AAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0070 a0001c0001t0002g0070	1	129	0.0078	32	c.119 others(49): Show c.119-1910_119-1909insATATATATATATATATATATATTTTTTT TTTT	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF2B3_chr1_44845522_44991595	44984797	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03831.hp2 NA18941.hp1 NA18985.hp2 others(2): Show HG03831.hp2 NA18941.hp1 NA18985.hp2 NA18986.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 others(2): Show a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035	5	29	0.1724	32	c.-10 others(49): Show c.-10+1695_-10+1696insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	1/11			chr1	TogoVar
EIF2S2_chr20_34083309_34117243	34111939	C C	CGGGGGGG others(25): Show CGGGGGGGGGGGGGGGGGGGGAGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0040 a0001c0002t0001g0040	1	360	0.0028	32	c.15+ others(45): Show c.15+156_15+157insCCCCCCCCCCCTCCCCCCCCCCCCCCCCCCCC	EIF2S2	ENSG00000125977.7	transcript	ENST00000374980.3	protein_coding	1/8			chr20	TogoVar
EIF3A_chr10_119028670_119085817	119052366	T T	TTGTGTGT others(25): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01516.hp2 NA18967.hp2 HG00544.hp2 HG01516.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0005t0003 a0001c0001t0002 a0001c0005t0003	a0001c0001t0002g0057 a0001c0001t0002g0137 a0001c0005t0003g0050 a0001c0001t0002g0057 a0001c0001t0002g0137 a0001c0005t0003g0050	3	337	0.0089	32	c.219 others(51): Show c.2197-1046_2197-1045insCACACACACACACACACACACACACA CACACA	EIF3A	ENSG00000107581.14	transcript	ENST00000369144.8	protein_coding	14/21			chr10	TogoVar
EIF3A_chr10_119028670_119085817	119052368	T T	TTGTGTGT others(25): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01993.hp2 HG02074.hp2 others(7): Show HG01175.hp2 HG01993.hp2 HG02074.hp2 HG02735.hp1 HG02735.hp2 HG02922.hp2 NA18982.hp2 NA18987.hp2 NA19089.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0040 a0001c0001t0002g0059 others(7): Show a0001c0001t0002g0007 a0001c0001t0002g0040 a0001c0001t0002g0059 a0001c0001t0002g0068 a0001c0001t0002g0090 a0001c0001t0002g0107 a0001c0001t0002g0127 a0001c0001t0002g0131 a0001c0001t0002g0142 a0001c0001t0002g0143	10	18	0.5556	32	c.219 others(51): Show c.2197-1048_2197-1047insCACACACACACACACACACACACACA CACACA	EIF3A	ENSG00000107581.14	transcript	ENST00000369144.8	protein_coding	14/21			chr10	TogoVar
EIF3E_chr8_108196216_108253717	108201250	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp2 HG01069.hp2 HG02647.hp1 HG00140.hp2 HG01069.hp2 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0095 a0001c0001t0015g0173 a0001c0001t0015g0179 a0001c0001t0015g0095 a0001c0001t0015g0173 a0001c0001t0015g0179	3	177	0.0169	32	c.63 others(41): Show c.634_*635insATATATATATATATATATATATATATATATAT	EIF3E	ENSG00000104408.11	transcript	ENST00000220849.10	protein_coding	13/13	634		chr8	TogoVar
EIF3H_chr8_116637130_116760823	116653348	A A	AACACACA others(25): Show AACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18979.hp1 NA19012.hp2 others(2): Show NA18941.hp2 NA18979.hp1 NA19012.hp2 NA19057.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0087 a0001c0001t0004g0173 a0001c0001t0004g0182 others(2): Show a0001c0001t0004g0087 a0001c0001t0004g0173 a0001c0001t0004g0182 a0001c0001t0004g0189 a0001c0001t0004g0190	5	77	0.0649	32	c.707 others(49): Show c.707+2507_707+2508insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	EIF3H	ENSG00000147677.12	transcript	ENST00000521861.6	protein_coding	5/7			chr8	TogoVar
EIF3L_chr22_37844419_37894407	37868634	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03710.hp1 HG02717.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0290 a0001c0001t0001g0136 a0001c0001t0001g0290	2	58	0.0345	32	c.580 others(49): Show c.580-1517_580-1516insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	EIF3L	ENSG00000100129.18	transcript	ENST00000652021.1	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
EIF4B_chr12_53001456_53047215	53030413	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	30	0.0333	32	c.979 others(49): Show c.979+2250_979+2251insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	EIF4B	ENSG00000063046.18	transcript	ENST00000262056.14	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
EIF4B_chr12_53001456_53047215	53043060	T T	TCTTTTTT others(25): Show TCTTTTTTTTTTCCCCCCCCCACCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0155 a0004c0008t0001g0155	1	370	0.0027	32	c.28 others(43): Show c.2837_*2838insCTTTTTTTTTTCCCCCCCCCACCCCCCCCCCC	EIF4B	ENSG00000063046.18	transcript	ENST00000262056.14	protein_coding		846		chr12	TogoVar
EIF4ENIF1_chr22_31434367_31494842	31464699	A A	AAAAAAAA others(25): Show AAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0291 a0001c0003t0001g0291	1	195	0.0051	32	c.299 others(47): Show c.299-733_299-732insATATATATATATATATATATATTTTTTTTT TT	EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	4/18			chr22	TogoVar
EIF4G3_chr1_20801479_21181897	21180124	C C	CATATATT others(25): Show CATATATTATATATAATATATATTATATATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0013 a0001c0001t0007g0013	1	309	0.0032	32	c.-38 others(43): Show c.-3859_-3858insATTATATATAATATATATTATATATAATATAT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding		3228		chr1	TogoVar
ELAPOR1_chr1_109109115_109211781	109183586	T T	TTTCTTCC others(25): Show TTTCTTCCTTTCTTCCTTCCTTCCTTCCCTCCC	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02300.hp2 HG02683.hp2 others(6): Show HG01346.hp1 HG02300.hp2 HG02683.hp2 HG02886.hp2 HG02896.hp2 HG03041.hp1 HG03704.hp1 NA18522.hp1 NA18906.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0038 others(3): Show a0001c0001 a0001c0002 a0001c0038 a0002c0005 a0002c0027 a0003c0031	a0001c0001t0001 a0001c0002t0001 a0001c0002t0015 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0015 a0001c0038t0015 a0002c0005t0016 a0002c0027t0030 a0003c0031t0004	a0001c0001t0001g0101 a0001c0002t0001g0138 a0001c0002t0001g0196 others(6): Show a0001c0001t0001g0101 a0001c0002t0001g0138 a0001c0002t0001g0196 a0001c0002t0015g0218 a0001c0038t0015g0214 a0002c0005t0016g0083 a0002c0005t0016g0084 a0002c0027t0030g0094 a0003c0031t0004g0088	9	227	0.0396	32	c.953 others(49): Show c.953-1458_953-1457insTCTTCCTTTCTTCCTTCCTTCCTTCCCT CCCT	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELAPOR1_chr1_109109115_109211781	109183598	T T	TTCCCTCC others(25): Show TTCCCTCCCTCCCTCCTTCCTTCCTTCTTTCCA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02257.hp2 HG02630.hp2 others(6): Show HG00642.hp1 HG02257.hp2 HG02630.hp2 HG02723.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG03486.hp2 NA19043.hp2	a0002 a0002	a0002c0005 a0002c0020 a0002c0005 a0002c0020	a0002c0005t0006 a0002c0005t0025 a0002c0020t0006 a0002c0005t0006 a0002c0005t0025 a0002c0020t0006	a0002c0005t0006g0012 a0002c0005t0006g0014 a0002c0005t0006g0015 others(6): Show a0002c0005t0006g0012 a0002c0005t0006g0014 a0002c0005t0006g0015 a0002c0005t0006g0016 a0002c0005t0006g0060 a0002c0005t0006g0061 a0002c0005t0025g0011 a0002c0020t0006g0155 a0002c0020t0006g0175	9	228	0.0395	32	c.953 others(49): Show c.953-1444_953-1443insCTCCCTCCCTCCTTCCTTCCTTCTTTCC ATCC	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELAVL1_chr19_7953573_8010641	7953841	T T	TGGGGGGA others(25): Show TGGGGGGAGGAGGCTGCCCTGGAGGCGGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	272	0.0037	32	c.96 others(43): Show c.9641_*9642insTCCCTCCGCCTCCAGGGCAGCCTCCTCCCCCC	ELAVL1	ENSG00000066044.15	transcript	ENST00000407627.7	protein_coding		4731		chr19	TogoVar
ELAVL1_chr19_7953573_8010641	7957359	G G	GAAAGAAA others(25): Show GAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	176	0.0057	32	c.61 others(43): Show c.6123_*6124insTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTT	ELAVL1	ENSG00000066044.15	transcript	ENST00000407627.7	protein_coding		1213		chr19	TogoVar
ELAVL1_chr19_7953573_8010641	7957388	A A	AGAAAGAA others(25): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG01099.hp1 NA18747.hp2 others(1): Show HG00558.hp1 HG01099.hp1 NA18747.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0001t0001 a0001c0001t0002 a0001c0004t0001	a0001c0001t0001g0089 a0001c0001t0002g0003 a0001c0001t0002g0189 others(1): Show a0001c0001t0001g0089 a0001c0001t0002g0003 a0001c0001t0002g0189 a0001c0004t0001g0107	4	94	0.0426	32	c.60 others(43): Show c.6094_*6095insCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTC	ELAVL1	ENSG00000066044.15	transcript	ENST00000407627.7	protein_coding		1184		chr19	TogoVar
ELAVL1_chr19_7953573_8010641	7957388	A A	AGAAAGAA others(25): Show AGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG06807.hp2 HG03098.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0025 a0001c0001t0001 a0001c0001t0025	a0001c0001t0001g0008 a0001c0001t0025g0038 a0001c0001t0001g0008 a0001c0001t0025g0038	2	92	0.0217	32	c.60 others(43): Show c.6094_*6095insCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTC	ELAVL1	ENSG00000066044.15	transcript	ENST00000407627.7	protein_coding		1184		chr19	TogoVar
ELAVL1_chr19_7953573_8010641	7957388	A A	AGAAAGAA others(25): Show AGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0235 a0001c0001t0012g0235	1	91	0.0110	32	c.60 others(43): Show c.6094_*6095insCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTC	ELAVL1	ENSG00000066044.15	transcript	ENST00000407627.7	protein_coding		1184		chr19	TogoVar
ELAVL1_chr19_7953573_8010641	7957388	A A	AGAAAGAA others(25): Show AGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0139 a0001c0001t0006g0139	1	91	0.0110	32	c.60 others(43): Show c.6094_*6095insCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTC	ELAVL1	ENSG00000066044.15	transcript	ENST00000407627.7	protein_coding		1184		chr19	TogoVar
ELAVL2_chr9_23685104_23831240	23735105	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA19012.hp1 NA19065.hp1 NA18991.hp1 NA19012.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0001t0001 a0001c0001t0003 a0001c0002t0002	a0001c0001t0001g0048 a0001c0001t0003g0065 a0001c0002t0002g0022 a0001c0001t0001g0048 a0001c0001t0003g0065 a0001c0002t0002g0022	3	41	0.0732	32	c.230 others(49): Show c.230-3981_230-3980insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	2/6			chr9	TogoVar
ELF2_chr4_139052265_139182218	139151031	A A	AAGAAAAG others(25): Show AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA19043.hp2 HG02258.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0206 a0001c0001t0003g0209 a0001c0001t0002g0206 a0001c0001t0003g0209	2	336	0.0060	32	c.-25 others(53): Show c.-251-11535_-251-11534insCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCT	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	1/9			chr4	TogoVar
ELFN1_chr7_1665277_1752946	1719289	A A	ACCAACAG others(25): Show ACCAACAGGGCCCCGCCCACCAACAGGGCCCCG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02258.hp2 HG02451.hp1 others(13): Show HG01243.hp2 HG02258.hp2 HG02451.hp1 HG02622.hp2 HG02818.hp2 HG02895.hp2 HG02976.hp2 HG03139.hp1 HG03195.hp2 HG03453.hp2 HG03486.hp1 HG03540.hp2 NA18522.hp1 NA18906.hp1 NA19030.hp1 NA20805.hp2	a0001 a0002 a0015 a0001 a0002 a0015	a0001c0001 a0001c0005 a0002c0003 others(1): Show a0001c0001 a0001c0005 a0002c0003 a0015c0023	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0020 a0001c0001t0025 a0001c0001t0026 a0001c0001t0038 a0001c0001t0048 a0001c0005t0010 a0002c0003t0024 a0015c0023t0003	a0001c0001t0001g0026 a0001c0001t0003g0134 a0001c0001t0003g0135 others(13): Show a0001c0001t0001g0026 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0185 a0001c0001t0005g0137 a0001c0001t0008g0124 a0001c0001t0008g0132 a0001c0001t0020g0017 a0001c0001t0020g0133 a0001c0001t0025g0012 a0001c0001t0026g0136 a0001c0001t0038g0287 a0001c0001t0048g0125 a0001c0005t0010g0142 a0002c0003t0024g0045 a0015c0023t0003g0131	16	290	0.0552	32	c.-29 others(53): Show c.-294+10063_-294+10064insGCCCCGCCAACAGGGCCCCGCCCA CCAACAGG	ELFN1	ENSG00000225968.8	transcript	ENST00000424383.5	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
ELL2_chr5_95880098_95966851	95907296	A A	ATATATAT others(25): Show ATATATATATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0014 a0001c0003t0012g0014	1	147	0.0068	32	c.482 others(47): Show c.482-515_482-514insAAAAAAAAAAAAAAAAAATATATATATATA TA	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	4/11			chr5	TogoVar
ELL2_chr5_95880098_95966851	95927400	T T	TACACACA others(25): Show TACACACACACACGTGTGTATATATAGACATAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0241 a0001c0001t0002g0241	1	177	0.0056	32	c.196 others(49): Show c.196-7856_196-7855insGTATGTCTATATATACACACGTGTGTGT GTGT	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11			chr5	TogoVar
ELL2_chr5_95880098_95966851	95927408	C C	CACGTGTG others(25): Show CACGTGTGTATATATAGACATACACACACACGT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp1 HG03490.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	2	209	0.0096	32	c.196 others(49): Show c.196-7864_196-7863insACGTGTGTGTGTATGTCTATATATACAC ACGT	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11			chr5	TogoVar
ELL_chr19_18437663_18527070	18454840	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG03453.hp1 HG01074.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0217 a0001c0001t0001g0184 a0001c0001t0001g0217	2	107	0.0187	32	c.870 others(49): Show c.870-3193_870-3192insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	6/11			chr19	TogoVar
ELMO1_chr7_36847906_37453864	36897336	G G	GTGTGTGT others(25): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp2 NA18906.hp1 HG02055.hp1 HG02055.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0005 a0001c0002t0001 a0001c0001t0003 a0001c0001t0005 a0001c0002t0001	a0001c0001t0003g0065 a0001c0001t0005g0073 a0001c0002t0001g0070 a0001c0001t0003g0065 a0001c0001t0005g0073 a0001c0002t0001g0070	3	29	0.1034	32	c.143 others(51): Show c.1438-2320_1438-2319insTACACACACACACACACACACACACA CACACA	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	16/21			chr7	TogoVar
ELMO1_chr7_36847906_37453864	37161905	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01192.hp2 HG01243.hp1 others(2): Show HG00735.hp2 HG01192.hp2 HG01243.hp1 HG03492.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0008 a0001c0001 a0002c0008	a0001c0001t0001 a0001c0001t0004 a0002c0008t0004 a0001c0001t0001 a0001c0001t0004 a0002c0008t0004	a0001c0001t0001g0029 a0001c0001t0001g0083 a0001c0001t0004g0046 others(2): Show a0001c0001t0001g0029 a0001c0001t0001g0083 a0001c0001t0004g0046 a0001c0001t0004g0057 a0002c0008t0004g0034	5	13	0.3846	32	c.108 others(53): Show c.1087-28672_1087-28671insATATATATATATATATATATATAT ATATATAT	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	13/21			chr7	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGGCGGG others(25): Show GGGGCGGGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp1 NA19088.hp1 NA18747.hp1 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0004 a0002c0003t0001 a0001c0001t0004 a0002c0003t0001	a0001c0001t0004g0038 a0002c0003t0001g0105 a0001c0001t0004g0038 a0002c0003t0001g0105	2	73	0.0274	32	c.-47 others(43): Show c.-4772_-4771insACACACACACACACACACACACACACCCGCCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGGGGGG others(25): Show GGGGGGGGCGGGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0024 a0001c0001t0005g0024	1	72	0.0139	32	c.-47 others(43): Show c.-4772_-4771insACACACACACACACACACACACCCGCCCCCCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411195	C C	CGGGTGTG others(25): Show CGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 NA19078.hp1 NA19090.hp2 HG01074.hp1 NA19078.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0042 a0001c0001t0001g0122 a0001c0001t0003g0058 a0001c0001t0001g0042 a0001c0001t0001g0122 a0001c0001t0003g0058	3	10	0.3000	32	c.-47 others(43): Show c.-4774_-4773insACACACACACACACACACACACACACACACCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4581		chr20	TogoVar
ELOA_chr1_23738471_23767059	23758255	A A	ATTTTTTT others(25): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	283	0.0035	32	c.225 others(51): Show c.2257+1133_2257+1134insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	ELOA	ENSG00000011007.13	transcript	ENST00000613537.5	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELOC_chr8_73940119_73977191	73975355	G G	GTTTTTTT others(25): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0026 a0001c0001t0007g0026	1	172	0.0058	32	c.-33 others(43): Show c.-3330_-3329insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ELOC	ENSG00000154582.18	transcript	ENST00000520242.6	protein_coding		3165		chr8	TogoVar
ELOVL2_chr6_10975759_11049305	10978310	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0338 a0001c0001t0001g0338	1	318	0.0031	32	c.54 others(43): Show c.5470_*5471insTTATATATATATATATATATATATATATATAT	ELOVL2	ENSG00000197977.4	transcript	ENST00000354666.4	protein_coding		2448		chr6	TogoVar
ELOVL2_chr6_10975759_11049305	10996743	T T	TGAGGCAG others(25): Show TGAGGCAGGTGCATCACCTGAGGTAGGGAGGCC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0272 a0001c0001t0025g0272	1	378	0.0026	32	c.334 others(49): Show c.334-1597_334-1566dupGGCCTCCCTACCTCAGGTGATGCACCTG CCTC	ELOVL2	ENSG00000197977.4	transcript	ENST00000354666.4	protein_coding	4/7			chr6	TogoVar
ELOVL2_chr6_10975759_11049305	11043467	A A	AACACACA others(25): Show AACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01256.hp1 HG02155.hp2 others(5): Show HG01106.hp1 HG01256.hp1 HG02155.hp2 NA18941.hp1 NA18943.hp1 NA18984.hp2 NA18994.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0067 others(5): Show a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0076 a0001c0001t0001g0117 a0001c0001t0007g0065	8	238	0.0336	32	c.3+7 others(43): Show c.3+760_3+761insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	ELOVL2	ENSG00000197977.4	transcript	ENST00000354666.4	protein_coding	1/7			chr6	TogoVar
ELOVL6_chr4_110040846_110203615	110084237	A A	ATATAACT others(25): Show ATATAACTTATATGATATATATAACATATAACT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA19082.hp1 NA18945.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0131 a0001c0001t0003g0132	2	336	0.0060	32	c.221 others(51): Show c.221+21259_221+21260insAGTTATATGTTATATATATCATATAA GTTATA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110117903	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0006 a0001c0001t0045g0006	1	55	0.0182	32	c.90- others(49): Show c.90-12276_90-12275insATATATATATATATATTTTTTTTTTTTT TTTT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110117903	A A	AAAAAAAA others(25): Show AAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	55	0.0182	32	c.90- others(49): Show c.90-12276_90-12275insATATATATATATATATATATATATTTTT TTTT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELP1_chr9_108862517_108939124	108900809	A A	ACACACAC others(25): Show ACACACACATACACGCCACACACACATACACGC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0009 a0008c0010t0009	a0008c0010t0009g0365 a0008c0010t0009g0365	1	411	0.0024	32	c.201 others(49): Show c.2015-466_2015-435dupGCGTGTATGTGTGTGTGGCGTGTATGTG TGTG	ELP1	ENSG00000070061.16	transcript	ENST00000374647.10	protein_coding	18/36			chr9	TogoVar
ELP1_chr9_108862517_108939124	108900826	A A	ACACACAC others(25): Show ACACACACATACACGCCACACACACATACACGC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00544.hp1 HG00673.hp2 others(16): Show HG00280.hp1 HG00544.hp1 HG00673.hp2 HG02015.hp2 HG02486.hp2 HG02572.hp1 HG02647.hp1 HG03098.hp1 NA18906.hp2 NA18989.hp2 NA18998.hp2 NA19000.hp2 NA19012.hp1 NA19067.hp2 NA19072.hp2 NA19074.hp1 NA19078.hp2 NA19240.hp1 NA20300.hp1	a0002 a0006 a0032 a0002 a0006 a0032	a0002c0003 a0006c0006 a0032c0037 a0002c0003 a0006c0006 a0032c0037	a0002c0003t0001 a0006c0006t0008 a0032c0037t0001 a0002c0003t0001 a0006c0006t0008 a0032c0037t0001	a0002c0003t0001g0009 a0002c0003t0001g0010 a0002c0003t0001g0011 others(13): Show a0002c0003t0001g0009 a0002c0003t0001g0010 a0002c0003t0001g0011 a0002c0003t0001g0035 a0002c0003t0001g0040 a0002c0003t0001g0043 a0002c0003t0001g0045 a0002c0003t0001g0046 a0006c0006t0008g0346 a0006c0006t0008g0347 a0006c0006t0008g0348 a0006c0006t0008g0354 a0006c0006t0008g0355 a0006c0006t0008g0356 a0006c0006t0008g0359 a0032c0037t0001g0039	19	412	0.0461	32	c.201 others(49): Show c.2015-483_2015-452dupGCGTGTATGTGTGTGTGGCGTGTATGTG TGTG	ELP1	ENSG00000070061.16	transcript	ENST00000374647.10	protein_coding	18/36			chr9	TogoVar
ELP1_chr9_108862517_108939124	108900843	A A	ACACACAC others(25): Show ACACACACATACACGCCACACACACATACACGC	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18963.hp1 NA18964.hp2 others(1): Show NA18943.hp1 NA18963.hp1 NA18964.hp2 NA18993.hp1	a0002 a0013 a0028 a0002 a0013 a0028	a0002c0003 a0013c0020 a0028c0038 a0002c0003 a0013c0020 a0028c0038	a0002c0003t0007 a0013c0020t0007 a0028c0038t0007 a0002c0003t0007 a0013c0020t0007 a0028c0038t0007	a0002c0003t0007g0112 a0013c0020t0007g0129 a0013c0020t0007g0130 others(1): Show a0002c0003t0007g0112 a0013c0020t0007g0129 a0013c0020t0007g0130 a0028c0038t0007g0103	4	401	0.0100	32	c.201 others(49): Show c.2015-500_2015-469dupGCGTGTATGTGTGTGTGGCGTGTATGTG TGTG	ELP1	ENSG00000070061.16	transcript	ENST00000374647.10	protein_coding	18/36			chr9	TogoVar
ELP4_chr11_31504767_31795324	31668675	C C	CATGTGTG others(25): Show CATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0168 a0001c0001t0047g0168	1	112	0.0089	32	c.114 others(53): Show c.1143+18454_1143+18455insATGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT	ELP4	ENSG00000109911.19	transcript	ENST00000640961.2	protein_coding	9/9			chr11	TogoVar

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