Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

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Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
EDA_chrX_69611113_70044472	69645584	T T	TTATATAT others(41): Show TTATATATATATATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0182 a0001c0001t0004g0182	1	226	0.0044	48	c.396 others(67): Show c.396+28889_396+28890insATATATATATATATATATATATATAT ATATATATATATGTATATATAT	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
EDA_chrX_69611113_70044472	69645584	T T	TTATATAT others(41): Show TTATATATATATATATATATATATATATATATATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02056.hp1 HG02896.hp1 others(1): Show HG01496.hp2 HG02056.hp1 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0178 others(1): Show a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0178 a0001c0001t0001g0196	4	226	0.0177	48	c.396 others(67): Show c.396+28889_396+28890insATATATATATATATATATATATATAT ATATATATGTGTGTATATATAT	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
EDA_chrX_69611113_70044472	69645584	T T	TTATATAT others(41): Show TTATATATATATATATATATATATATATATATATATATATATGTGTGTG	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG03654.hp1 HG02135.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0090 a0001c0001t0002g0095 a0001c0001t0001g0090 a0001c0001t0002g0095	2	226	0.0089	48	c.396 others(67): Show c.396+28889_396+28890insATATATATATATATATATATATATAT ATATATGTGTGTGTATATATAT	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
EDA_chrX_69611113_70044472	69655762	C C	CTATATAT others(41): Show CTATATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	226	0.0044	48	c.396 others(67): Show c.396+39083_396+39084insATATATATATATATATATATATATAT ATATATATATATATATATATAT	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
EDA_chrX_69611113_70044472	69655762	C C	CTATATAT others(41): Show CTATATATATATCTATATATATATATCTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	226	0.0044	48	c.396 others(67): Show c.396+39069_396+39070insCTATATATATATATCTATATATATAT ATATATATATATATATATATAT	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
EDIL3_chr5_83935554_84389880	84312356	G G	GGACGGGG others(41): Show GGACGGGGCAGCTGGCCGGGCGGGGGCTGACCCCCCCACCTCCCTCCCC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02965.hp2 HG04184.hp1 HG01243.hp2 HG02965.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0007 a0001c0001t0001 a0001c0001t0003 a0001c0002t0007	a0001c0001t0001g0059 a0001c0001t0003g0138 a0001c0002t0007g0057 a0001c0001t0001g0059 a0001c0001t0003g0138 a0001c0002t0007g0057	3	158	0.0190	48	c.68- others(65): Show c.68-58145_68-58144insGGGGAGGGAGGTGGGGGGGTCAGCCCCC GCCCGGCCAGCTGCCCCGTC	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	1/10			chr5	TogoVar
EFCAB11_chr14_89789669_89959730	89881452	C C	CGCATATA others(41): Show CGCATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0189 a0001c0002t0003g0189	1	284	0.0035	48	c.410 others(67): Show c.410+50088_410+50089insATATATATATATATATATATATATAT ATATATATATATATATATATGC	EFCAB11	ENSG00000140025.16	transcript	ENST00000316738.12	protein_coding	5/5			chr14	TogoVar
EFCAB11_chr14_89789669_89959730	89929031	A A	ATATATAT others(41): Show ATATATATATATATATATATATTTTATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0193 a0001c0002t0004g0193	1	284	0.0035	48	c.410 others(65): Show c.410+2509_410+2510insAAATATATATATATATATATATATAAAA TATATATATATATATATATA	EFCAB11	ENSG00000140025.16	transcript	ENST00000316738.12	protein_coding	5/5			chr14	TogoVar
EFHC2_chrX_44142872_44348672	44187135	G G	GTATATAT others(41): Show GTATATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA19080.hp2 NA18977.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0169 a0001c0001t0005g0212 a0001c0001t0005g0169 a0001c0001t0005g0212	2	221	0.0091	48	c.175 others(67): Show c.1752-8572_1752-8571insTATATATATATATATATATATATATA TATATATATATATATATATATA	EFHC2	ENSG00000183690.13	transcript	ENST00000420999.2	protein_coding	11/14			chrX	TogoVar
EFL1_chr15_82125233_82267734	82211595	G G	GACACACA others(41): Show GACACACACACACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0010 a0001c0008t0001g0010	1	368	0.0027	48	c.175 others(67): Show c.1750+3121_1750+3122insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGT	EFL1	ENSG00000140598.16	transcript	ENST00000268206.12	protein_coding	15/19			chr15	TogoVar
EFNA5_chr5_107371894_107675937	107476046	C C	CTATATAT others(41): Show CTATATATATATATATATATATATATATATATATATATATATATGTATA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG03579.hp1 HG01192.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0053 a0001c0001t0012 a0001c0001t0053	a0001c0001t0012g0178 a0001c0001t0053g0036 a0001c0001t0012g0178 a0001c0001t0053g0036	2	190	0.0105	48	c.126 others(67): Show c.126-48538_126-48537insTATACATATATATATATATATATATA TATATATATATATATATATATA	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EGFL7_chr9_136657916_136677678	136671139	A A	AGGCAGGC others(41): Show AGGCAGGCAGTCCAGGGTGGACCTGCTGGAGGAGGTGAGGCGTCGGGGG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02451.hp1 HG02970.hp2 HG02258.hp2 HG02451.hp1 HG02970.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0003 a0001c0003t0001 a0001c0003t0003	a0001c0003t0001g0151 a0001c0003t0001g0152 a0001c0003t0003g0153 a0001c0003t0001g0151 a0001c0003t0001g0152 a0001c0003t0003g0153	3	432	0.0069	48	c.636 others(63): Show c.636+207_636+254dupGTGAGGCGTCGGGGGGGCAGGCAGTCCAGG GTGGACCTGCTGGAGGAG	EGFL7	ENSG00000172889.16	transcript	ENST00000308874.12	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
EGF_chr4_109907883_110018766	109959418	A A	AGACCGGA others(41): Show AGACCGGAAGTACTGTGAAGGTAATGACTGGAAGTACTGTGAAGGTAAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0025 a0025	a0025c0035 a0025c0035	a0025c0035t0017 a0025c0035t0017	a0025c0035t0017g0131 a0025c0035t0017g0131	1	388	0.0026	48	c.104 others(60): Show c.1049_1066+30dupACCGGAAGTACTGTGAAGGTAATGACTGGAAGT ACTGTGAAGGTAATG	EGF	ENSG00000138798.13	transcript	ENST00000265171.10	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
EHD3_chr2_31229152_31274451	31245553	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0214 a0001c0001t0013g0214	1	378	0.0027	48	c.404 others(65): Show c.404+1104_404+1105insATATATATATATATATATATATATATAT ATATATATATATATATATTT	EHD3	ENSG00000013016.16	transcript	ENST00000322054.10	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
EIF2AK1_chr7_6017247_6064175	6045733	T T	TTATATAT others(41): Show TTATATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0247 a0002c0003t0001g0247	1	418	0.0024	48	c.630 others(63): Show c.630+337_630+338insTATATATATATATATATATATATATATATA TATATATATATATATATA	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	6/14			chr7	TogoVar
EIF2AK1_chr7_6017247_6064175	6056613	A A	AAAAAAAA others(41): Show AAAAAAAAAAAAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0316 a0001c0001t0007g0316	1	418	0.0024	48	c.119 others(65): Show c.119-1910_119-1909insATATATATATATATATATATATATATAT ATATATATTTTTTTTTTTTT	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF2AK1_chr7_6017247_6064175	6056613	A A	AAAATATA others(41): Show AAAATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0313 a0001c0001t0005g0313	1	418	0.0024	48	c.119 others(65): Show c.119-1910_119-1909insATATATATATATATATATATATATATAT ATATATATATATATATATTT	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF3A_chr10_119028670_119085817	119052368	T T	TTGTGTGT others(41): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG04228.hp1 NA18995.hp2 others(1): Show HG03139.hp1 HG04228.hp1 NA18995.hp2 NA19065.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0002 a0003c0004t0009 a0001c0001t0002 a0003c0004t0009	a0001c0001t0002g0082 a0001c0001t0002g0122 a0001c0001t0002g0140 others(1): Show a0001c0001t0002g0082 a0001c0001t0002g0122 a0001c0001t0002g0140 a0003c0004t0009g0019	4	350	0.0114	48	c.219 others(67): Show c.2197-1048_2197-1047insCACACACACACACACACACACACACA CACACACACACACACACACACA	EIF3A	ENSG00000107581.14	transcript	ENST00000369144.8	protein_coding	14/21			chr10	TogoVar
EIF3K_chr19_38614188_38641954	38637325	C C	CTTTTTTT others(41): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0221 a0001c0002t0001g0221	1	400	0.0025	48	c.40 others(57): Show c.405_*406insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	EIF3K	ENSG00000178982.10	transcript	ENST00000248342.9	protein_coding		372		chr19	TogoVar
EIF4EBP2_chr10_70399145_70433618	70406646	A A	ACCATACT others(41): Show ACCATACTTTTAAAAATAAGGGCATAGTCTTTAAGCGTTGCTTCAAAGC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02809.hp1 HG03098.hp1 others(2): Show HG02622.hp1 HG02809.hp1 HG03098.hp1 NA18522.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0098 a0001c0001t0012g0099 a0001c0001t0012g0100 others(2): Show a0001c0001t0012g0098 a0001c0001t0012g0099 a0001c0001t0012g0100 a0001c0001t0012g0101 a0001c0001t0012g0102	5	422	0.0119	48	c.145 others(65): Show c.145+2100_145+2101insCCATACTTTTAAAAATAAGGGCATAGTC TTTAAGCGTTGCTTCAAAGC	EIF4EBP2	ENSG00000148730.7	transcript	ENST00000373218.5	protein_coding	1/2			chr10	TogoVar
ELAPOR1_chr1_109109115_109211781	109113409	A A	AGAGAGAG others(41): Show AGAGAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0007 a0003c0004t0007	a0003c0004t0007g0087 a0003c0004t0007g0087	1	230	0.0044	48	c.-77 others(57): Show c.-775_-774insGAGAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGG GAGGGAGGGAGG	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding		705		chr1	TogoVar
ELAPOR1_chr1_109109115_109211781	109113413	A A	AGAGAGAG others(41): Show AGAGAGAGAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0027 a0002c0027	a0002c0027t0030 a0002c0027t0030	a0002c0027t0030g0094 a0002c0027t0030g0094	1	230	0.0044	48	c.-77 others(57): Show c.-771_-770insGAGAGAGAGAGAGAGAGAGGGAGGGAGGGAGGGAGG GAGGGAGGGAGG	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding		701		chr1	TogoVar
ELAPOR1_chr1_109109115_109211781	109138570	C C	CCAGCAGC others(41): Show CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0008 a0002c0006t0008	a0002c0006t0008g0062 a0002c0006t0008g0062	1	230	0.0044	48	c.154 others(67): Show c.154-23300_154-23299insCAGCAGCAGCAGCAGCAGCAGCAGCA GCAGCAGCAGCAGCAGCAGCAG	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELAVL1_chr19_7953573_8010641	7957388	A A	AGAAAGAA others(41): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0150 a0001c0001t0002g0150	1	276	0.0036	48	c.60 others(59): Show c.6094_*6095insCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTC	ELAVL1	ENSG00000066044.15	transcript	ENST00000407627.7	protein_coding		1184		chr19	TogoVar
ELF2_chr4_139052265_139182218	139151032	A A	AAAAAAAG others(41): Show AAAAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGGAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0341 a0001c0001t0002g0341	1	342	0.0029	48	c.-25 others(69): Show c.-251-11536_-251-11535insCTTTCTTTCTTTCTTCCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTTT	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	1/9			chr4	TogoVar
ELL2_chr5_95880098_95966851	95927643	A A	ATATAGAC others(41): Show ATATAGACATACACACACACGTGTGTATAGACATACACACACACGTGTG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0217 a0001c0001t0002g0217	1	314	0.0032	48	c.196 others(65): Show c.196-8099_196-8098insCACACGTGTGTGTGTATGTCTATACACA CGTGTGTGTGTATGTCTATA	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11			chr5	TogoVar
ELL2_chr5_95880098_95966851	95927708	C C	CACACACG others(41): Show CACACACGTGTGTATATAGACATACACACACACGTGTGTATATAGACAT	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG04228.hp2 NA19006.hp2 others(2): Show HG02300.hp2 HG04228.hp2 NA19006.hp2 NA19058.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0214 a0001c0001t0002g0233 a0001c0001t0002g0241 others(2): Show a0001c0001t0002g0214 a0001c0001t0002g0233 a0001c0001t0002g0241 a0001c0001t0002g0264 a0001c0001t0002g0294	5	314	0.0159	48	c.196 others(65): Show c.196-8164_196-8163insATGTCTATATACACACGTGTGTGTGTAT GTCTATATACACACGTGTGT	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11			chr5	TogoVar
ELL2_chr5_95880098_95966851	95927772	C C	CATGTGTA others(41): Show CATGTGTATATATAGACATATATACACATGTGTATATATAGACATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0111 a0003c0007t0001g0111	1	314	0.0032	48	c.196 others(65): Show c.196-8228_196-8227insATATATGTCTATATATACACATGTGTAT ATATGTCTATATATACACAT	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11			chr5	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGGCGGG others(41): Show GGGGCGGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	312	0.0032	48	c.-47 others(59): Show c.-4772_-4771insACACACACACACACACACACACACACACACACAC ACACACCCCCGCCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGGCGGG others(41): Show GGGGCGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG03942.hp1 NA18940.hp2 others(1): Show HG02886.hp2 HG03942.hp1 NA18940.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0035 a0001c0001t0004g0220 a0001c0001t0004g0224 others(1): Show a0001c0001t0004g0035 a0001c0001t0004g0220 a0001c0001t0004g0224 a0001c0001t0004g0225	4	312	0.0128	48	c.-47 others(59): Show c.-4772_-4771insACACACACACACACACACACACACACACACACAC ACACACACCCGCCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411195	C C	CGGGGGTG others(41): Show CGGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0015	1	312	0.0032	48	c.-47 others(59): Show c.-4774_-4773insACACACACACACACACACACACACACACACACAC ACACACACACCCCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4581		chr20	TogoVar
ELMOD1_chr11_107586147_107671779	107621666	T T	TTCTCATG others(41): Show TTCTCATGTTTGTGTCACATCACCCCATTACTGTGAGCCCACTGTGAGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00408.hp1 others(110): Show HG00099.hp1 HG00099.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01256.hp2 HG01346.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01934.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp2 HG02056.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02809.hp2 HG02886.hp2 HG02895.hp2 HG02965.hp2 HG02970.hp2 HG03017.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03669.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG04115.hp1 HG04199.hp2 HG04204.hp2 NA18612.hp1 NA18940.hp2 NA18943.hp2 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18949.hp2 NA18951.hp1 NA18954.hp1 NA18955.hp1 NA18960.hp1 NA18962.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18969.hp1 NA18975.hp2 NA18983.hp1 NA18986.hp2 NA18988.hp2 NA18994.hp1 NA19000.hp1 NA19001.hp2 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19011.hp1 NA19055.hp1 NA19066.hp1 NA19067.hp1 NA19070.hp1 NA19074.hp1 NA19076.hp1 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19085.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0021 a0001c0001t0025 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0009 a0001c0002t0010 a0001c0002t0011 a0001c0002t0014 a0001c0002t0017 a0001c0002t0031 a0002c0003t0001 a0004c0004t0023	a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0014 others(109): Show a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0021 a0001c0001t0001g0028 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0094 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0184 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0214 a0001c0001t0001g0232 a0001c0001t0001g0236 a0001c0001t0001g0240 a0001c0001t0001g0260 a0001c0001t0001g0296 a0001c0001t0001g0310 a0001c0001t0001g0312 a0001c0001t0001g0315 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0002g0048 a0001c0001t0002g0056 a0001c0001t0002g0074 a0001c0001t0002g0080 a0001c0001t0002g0090 a0001c0001t0002g0098 a0001c0001t0002g0191 a0001c0001t0002g0239 a0001c0001t0002g0313 a0001c0001t0003g0066 a0001c0001t0003g0069 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0124 a0001c0001t0003g0136 a0001c0001t0003g0149 a0001c0001t0003g0153 a0001c0001t0003g0162 a0001c0001t0003g0173 a0001c0001t0003g0195 a0001c0001t0003g0201 a0001c0001t0003g0331 a0001c0001t0005g0128 a0001c0001t0005g0135 a0001c0001t0005g0164 a0001c0001t0005g0165 a0001c0001t0005g0167 a0001c0001t0005g0196 a0001c0001t0008g0061 a0001c0001t0008g0082 a0001c0001t0008g0157 a0001c0001t0008g0160 a0001c0001t0008g0192 a0001c0001t0008g0198 a0001c0001t0010g0134 a0001c0001t0010g0140 a0001c0001t0021g0161 a0001c0001t0025g0143 a0001c0002t0002g0110 a0001c0002t0002g0122 a0001c0002t0002g0123 a0001c0002t0002g0125 a0001c0002t0004g0141 a0001c0002t0005g0001 a0001c0002t0005g0060 a0001c0002t0005g0119 a0001c0002t0005g0145 a0001c0002t0006g0011 a0001c0002t0006g0012 a0001c0002t0006g0017 a0001c0002t0006g0054 a0001c0002t0006g0063 a0001c0002t0006g0070 a0001c0002t0006g0078 a0001c0002t0006g0152 a0001c0002t0006g0175 a0001c0002t0006g0194 a0001c0002t0006g0257 a0001c0002t0007g0049 a0001c0002t0007g0077 a0001c0002t0009g0144 a0001c0002t0010g0316 a0001c0002t0011g0016 a0001c0002t0011g0181 a0001c0002t0011g0182 a0001c0002t0014g0281 a0001c0002t0017g0262 a0001c0002t0031g0071 a0002c0003t0001g0190 a0004c0004t0023g0179	113	342	0.3304	48	c.17+ others(63): Show c.17+3479_17+3480insCACCCCATTACTGTGAGCCCACTGTGAGGT CTCATGTTTGTGTCACAT	ELMOD1	ENSG00000110675.13	transcript	ENST00000265840.12	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
ELMOD1_chr11_107586147_107671779	107621666	T T	TTCTCATG others(41): Show TTCTCATGTTTGTGTCACATTACCCCATTACTGTGAGCCCACTGTGAGG	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0109 a0001c0001t0003g0109	1	342	0.0029	48	c.17+ others(63): Show c.17+3462_17+3509dupCTCATGTTTGTGTCACATTACCCCATTACT GTGAGCCCACTGTGAGGT	ELMOD1	ENSG00000110675.13	transcript	ENST00000265840.12	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
ELMOD1_chr11_107586147_107671779	107621686	T T	TACCCCAT others(41): Show TACCCCATTACTGTGAGCCCACTGTGAGGTCTCATGTTTGTGTCACATC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG02723.hp1 HG03486.hp2 others(1): Show HG01256.hp1 HG02723.hp1 HG03486.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0004 a0001c0002t0012	a0001c0001t0001g0314 a0001c0001t0002g0166 a0001c0002t0004g0282 others(1): Show a0001c0001t0001g0314 a0001c0001t0002g0166 a0001c0002t0004g0282 a0001c0002t0012g0092	4	342	0.0117	48	c.17+ others(63): Show c.17+3509_17+3510insCTCATGTTTGTGTCACATCACCCCATTACT GTGAGCCCACTGTGAGGT	ELMOD1	ENSG00000110675.13	transcript	ENST00000265840.12	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
ELOC_chr8_73940119_73977191	73945985	G G	GAGTCATG others(41): Show GAGTCATGTAGTTTACCATCTTACTACTACTTACTAAGTCATGTAGTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02257.hp1 NA18522.hp1 NA20300.hp1 HG02257.hp1 NA18522.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0183 a0001c0001t0005g0250 a0001c0001t0005g0264 a0001c0001t0005g0183 a0001c0001t0005g0250 a0001c0001t0005g0264	3	404	0.0074	48	c.64 others(57): Show c.644_*645insAAACTACATGACTTAGTAAGTAGTAGTAAGATGGTA AACTACATGACT	ELOC	ENSG00000154582.18	transcript	ENST00000520242.6	protein_coding	4/4	644		chr8	TogoVar
ELOVL5_chr6_53262404_53353950	53305333	C C	CCCCCCCA others(41): Show CCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTGA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02258.hp1 HG02572.hp2 others(4): Show HG02055.hp1 HG02258.hp1 HG02572.hp2 HG02922.hp2 HG02970.hp1 HG03209.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 others(4): Show a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044	7	320	0.0219	48	c.-8- others(63): Show c.-8-9627_-8-9626insTCAGCCCCCCGCCCGGCCAGCTGCCCCGTC CGGGAGGGAGGTGGGGGG	ELOVL5	ENSG00000012660.14	transcript	ENST00000304434.11	protein_coding	1/7			chr6	TogoVar
ELOVL5_chr6_53262404_53353950	53305333	C C	CCCCCCCA others(41): Show CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00423.hp1 others(123): Show HG00099.hp1 HG00280.hp1 HG00423.hp1 HG00544.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp2 HG01099.hp2 HG01123.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01516.hp1 HG01884.hp2 HG01993.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp2 HG02074.hp2 HG02109.hp1 HG02129.hp1 HG02135.hp2 HG02145.hp1 HG02257.hp2 HG02280.hp1 HG02451.hp2 HG02523.hp1 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02698.hp2 HG02723.hp2 HG02738.hp2 HG02818.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18945.hp1 NA18947.hp2 NA18951.hp2 NA18954.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18964.hp1 NA18965.hp1 NA18968.hp1 NA18973.hp2 NA18977.hp2 NA18978.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18987.hp1 NA18989.hp2 NA18993.hp1 NA19000.hp2 NA19002.hp1 NA19003.hp1 NA19004.hp1 NA19006.hp1 NA19007.hp2 NA19010.hp1 NA19012.hp1 NA19054.hp2 NA19057.hp2 NA19060.hp1 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19077.hp2 NA19082.hp2 NA19086.hp1 NA19087.hp2 NA19088.hp1 NA19240.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(117): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0192 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0003g0093 a0001c0001t0003g0101 a0001c0001t0003g0103 a0001c0001t0003g0116 a0001c0001t0003g0121 a0001c0001t0007g0131 a0001c0001t0007g0135 a0001c0001t0008g0153 a0001c0001t0008g0154 a0001c0001t0012g0056 a0001c0001t0014g0106 a0001c0001t0015g0105	126	320	0.3938	48	c.-8- others(63): Show c.-8-9627_-8-9626insTCAGCCCCCCGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGG	ELOVL5	ENSG00000012660.14	transcript	ENST00000304434.11	protein_coding	1/7			chr6	TogoVar
ELOVL6_chr4_110040846_110203615	110084134	A A	ATATATGA others(41): Show ATATATGATATATAACATATATGTGATATATATGATATATAACATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01123.hp1 HG01515.hp1 others(3): Show HG00140.hp2 HG01123.hp1 HG01515.hp1 HG01517.hp1 HG02148.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0079 a0001c0001t0008 a0001c0001t0079	a0001c0001t0008g0009 a0001c0001t0008g0028 a0001c0001t0008g0029 others(3): Show a0001c0001t0008g0009 a0001c0001t0008g0028 a0001c0001t0008g0029 a0001c0001t0008g0030 a0001c0001t0008g0219 a0001c0001t0079g0289	6	338	0.0178	48	c.221 others(67): Show c.221+21362_221+21363insATATATGTTATATATCATATATATCA CATATATGTTATATATCATATA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110084169	A A	ATATATGA others(41): Show ATATATGATATATATAACATAACTTATATGATATATATAACATATAACT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0333 a0001c0001t0047g0333	1	338	0.0030	48	c.221 others(67): Show c.221+21327_221+21328insAGTTATATGTTATATATATCATATAA GTTATGTTATATATATCATATA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110084185	A A	ACATATAA others(41): Show ACATATAACTTATATGATATATATCATATAACTTATATGATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0058 a0001c0001t0042g0058	1	338	0.0030	48	c.221 others(67): Show c.221+21311_221+21312insATATATATATCATATAAGTTATATGA TATATATCATATAAGTTATATG	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110117903	A A	AAAAAAAA others(41): Show AAAAAAAAAAAATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0240 a0001c0001t0002g0240	1	338	0.0030	48	c.90- others(65): Show c.90-12276_90-12275insATATATATATATATATATATATATATAT ATATATATATTTTTTTTTTT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110117926	C C	CTATATCT others(41): Show CTATATCTATATCTATATCTATATATATATCTATATCTATATCTATCTA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0151 a0001c0001t0011g0151	1	338	0.0030	48	c.90- others(65): Show c.90-12299_90-12298insTAGATAGATATAGATATAGATATATATA TAGATATAGATATAGATATA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
EMC10_chr19_50471507_50495871	50471642	A A	ATATACGC others(41): Show ATATACGCATACATGCACGTGTGTGTATACGCATACATGCACGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG01884.hp2 HG02071.hp2 others(23): Show HG00738.hp2 HG01884.hp2 HG02071.hp2 HG02080.hp1 HG02129.hp1 HG02132.hp1 HG02738.hp2 HG03017.hp2 HG03942.hp2 HG04115.hp2 NA18747.hp1 NA18947.hp1 NA18947.hp2 NA18954.hp1 NA18959.hp2 NA18966.hp1 NA18973.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp1 NA18999.hp1 NA19007.hp1 NA19010.hp1 NA19081.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0009 a0001c0001t0014 others(11): Show a0001c0001t0006 a0001c0001t0009 a0001c0001t0014 a0001c0001t0017 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0032 a0001c0001t0046 a0001c0001t0107 a0001c0001t0113 a0001c0001t0114 a0001c0001t0115 a0001c0001t0172	a0001c0001t0006g0001 a0001c0001t0009g0001 a0001c0001t0014g0001 others(12): Show a0001c0001t0006g0001 a0001c0001t0009g0001 a0001c0001t0014g0001 a0001c0001t0017g0001 a0001c0001t0024g0001 a0001c0001t0025g0001 a0001c0001t0026g0001 a0001c0001t0032g0001 a0001c0001t0046g0001 a0001c0001t0046g0056 a0001c0001t0107g0001 a0001c0001t0113g0001 a0001c0001t0114g0001 a0001c0001t0115g0001 a0001c0001t0172g0001	26	352	0.0739	48	c.-49 others(59): Show c.-4903_-4902insTATACGCATACATGCACGTGTGTGTATACGCATA CATGCACGTGTGTG	EMC10	ENSG00000161671.17	transcript	ENST00000334976.11	protein_coding		4864		chr19	TogoVar
EMCN_chr4_100390341_100523022	100448822	T T	TCCTTCCT others(41): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01934.hp1 HG02109.hp1 others(9): Show HG01516.hp1 HG01934.hp1 HG02109.hp1 HG02129.hp1 HG02257.hp1 HG02602.hp2 HG03669.hp2 NA18984.hp2 NA19007.hp1 NA19056.hp2 NA19062.hp1 NA19064.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0018 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0018 a0002c0002t0003	a0001c0001t0002g0189 a0001c0001t0002g0216 a0001c0001t0003g0102 others(9): Show a0001c0001t0002g0189 a0001c0001t0002g0216 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0106 a0001c0001t0003g0188 a0001c0001t0003g0217 a0001c0001t0003g0220 a0001c0001t0003g0235 a0001c0001t0018g0219 a0002c0002t0003g0082 a0002c0002t0003g0083	12	262	0.0458	48	c.377 others(65): Show c.377-1252_377-1251insGAGGGAGGGAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGG	EMCN	ENSG00000164035.10	transcript	ENST00000296420.9	protein_coding	4/11			chr4	TogoVar
EMCN_chr4_100390341_100523022	100448822	T T	TCCTTCCT others(41): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0153 a0001c0001t0009g0153	1	262	0.0038	48	c.377 others(65): Show c.377-1252_377-1251insGAGGGAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGG	EMCN	ENSG00000164035.10	transcript	ENST00000296420.9	protein_coding	4/11			chr4	TogoVar
EML1_chr14_99788413_99947060	99927975	G G	GTGGTGGT others(41): Show GTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01884.hp1 HG02630.hp1 others(2): Show HG01515.hp2 HG01884.hp1 HG02630.hp1 HG02976.hp2 HG03927.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0002c0001 a0003c0002 a0001c0003 a0002c0001 a0003c0002	a0001c0003t0001 a0002c0001t0001 a0003c0002t0001 a0001c0003t0001 a0002c0001t0001 a0003c0002t0001	a0001c0003t0001g0113 a0001c0003t0001g0114 a0001c0003t0001g0120 others(2): Show a0001c0003t0001g0113 a0001c0003t0001g0114 a0001c0003t0001g0120 a0002c0001t0001g0239 a0003c0002t0001g0124	5	288	0.0174	48	c.190 others(67): Show c.1909+7109_1909+7110insATGGTGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGATGGTGGTGGTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EML1_chr14_99788413_99947060	99928050	A A	ATGGTGGT others(41): Show ATGGTGGTGGAGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0084 a0002c0001t0002g0084	1	288	0.0035	48	c.190 others(67): Show c.1909+7182_1909+7183insAGGTGGTGGTGGTGGTGATGGTGGTG GTGGTGGAGGTGGTGGTGGTGG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
ENOSF1_chr18_665318_717630	667388	T T	TGATGGTG others(41): Show TGATGGTGATGGAGATGGTGATGGCGATGGAGATGGCGATGGAGATGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0083 a0001c0001t0002g0083	1	418	0.0024	48	c.69 others(59): Show c.6916_*6917insGCCATCTCCATCGCCATCTCCATCGCCATCACCA TCTCCATCACCATC	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		2929		chr18	TogoVar
ENOX1_chr13_43208130_43791972	43780527	G G	GGTCTTGT others(41): Show GGTCTTGTTGCTAACGATAGGGTTTTAGAGTCTATCAGTGTCAATCCAT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0110 a0001c0001t0014g0110	1	188	0.0053	48	c.-28 others(67): Show c.-285+6124_-285+6125insATGGATTGACACTGATAGACTCTAAA ACCCTATCGTTAGCAACAAGAC	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	1/16			chr13	TogoVar
ENPP6_chr4_184083706_184222873	184131259	T T	TTTCTCTT others(41): Show TTTCTCTTTCTTTCTTTCTTTCCTTCTTTCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG03225.hp2 HG02300.hp2 HG03225.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0114 a0001c0003t0003g0130 a0001c0003t0003g0114 a0001c0003t0003g0130	2	320	0.0063	48	c.422 others(65): Show c.422-6988_422-6987insGAAGGAAGGAAGGAAGGAAGAAAGAAGG AAAGAAAGAAAGAAAGAGAA	ENPP6	ENSG00000164303.11	transcript	ENST00000296741.7	protein_coding	2/7			chr4	TogoVar

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