Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ELAPOR1_chr1_109109115_109211781	109183345	AAAACAAA others(8): Show AAAACAAAAAAAAGAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00323.hp2 others(93): Show HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp2 HG01109.hp2 HG01167.hp2 HG01169.hp1 HG01255.hp2 HG01433.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02015.hp2 HG02071.hp1 HG02083.hp1 HG02109.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp2 HG02280.hp2 HG02293.hp2 HG02486.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02723.hp1 HG02735.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03098.hp2 HG03139.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp2 HG03540.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 NA18906.hp2 NA18959.hp1 NA18962.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18977.hp1 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp2 NA19058.hp1 NA19060.hp2 NA19063.hp1 NA19081.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0009	a0001c0001 a0001c0002 a0001c0013 others(22): Show a0001c0001 a0001c0002 a0001c0013 a0001c0019 a0001c0022 a0001c0032 a0001c0035 a0001c0039 a0001c0040 a0002c0003 a0002c0005 a0002c0006 a0002c0009 a0002c0010 a0002c0014 a0002c0015 a0002c0016 a0002c0020 a0002c0028 a0002c0037 a0003c0026 a0003c0031 a0004c0011 a0006c0033 a0009c0041	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(38): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0019 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0013t0001 a0001c0013t0031 a0001c0019t0003 a0001c0022t0005 a0001c0032t0005 a0001c0035t0010 a0001c0039t0005 a0001c0040t0019 a0002c0003t0003 a0002c0003t0010 a0002c0003t0039 a0002c0005t0006 a0002c0005t0016 a0002c0005t0025 a0002c0006t0001 a0002c0006t0002 a0002c0006t0008 a0002c0006t0011 a0002c0009t0003 a0002c0009t0010 a0002c0010t0008 a0002c0014t0006 a0002c0015t0017 a0002c0016t0022 a0002c0020t0006 a0002c0028t0001 a0002c0037t0027 a0003c0026t0004 a0003c0031t0004 a0004c0011t0004 a0006c0033t0014 a0009c0041t0002	a0001c0001t0001g0008 a0001c0001t0001g0123 a0001c0001t0002g0018 others(93): Show a0001c0001t0001g0008 a0001c0001t0001g0123 a0001c0001t0002g0018 a0001c0001t0002g0029 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0055 a0001c0001t0002g0064 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0127 a0001c0001t0002g0130 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0003g0041 a0001c0001t0005g0028 a0001c0001t0005g0031 a0001c0001t0005g0050 a0001c0001t0005g0051 a0001c0001t0005g0058 a0001c0001t0005g0115 a0001c0001t0005g0131 a0001c0001t0019g0019 a0001c0002t0001g0216 a0001c0002t0002g0148 a0001c0002t0002g0151 a0001c0002t0002g0160 a0001c0002t0002g0166 a0001c0002t0002g0174 a0001c0002t0002g0178 a0001c0002t0002g0183 a0001c0002t0002g0189 a0001c0002t0002g0192 a0001c0002t0002g0197 a0001c0002t0002g0212 a0001c0002t0002g0225 a0001c0002t0002g0226 a0001c0002t0003g0168 a0001c0002t0005g0149 a0001c0002t0005g0164 a0001c0002t0005g0177 a0001c0002t0005g0185 a0001c0002t0005g0227 a0001c0013t0001g0105 a0001c0013t0001g0106 a0001c0013t0031g0069 a0001c0019t0003g0136 a0001c0022t0005g0132 a0001c0032t0005g0184 a0001c0035t0010g0198 a0001c0039t0005g0169 a0001c0040t0019g0170 a0002c0003t0003g0079 a0002c0003t0003g0086 a0002c0003t0010g0122 a0002c0003t0039g0112 a0002c0005t0006g0012 a0002c0005t0006g0014 a0002c0005t0006g0015 a0002c0005t0006g0016 a0002c0005t0006g0060 a0002c0005t0006g0061 a0002c0005t0016g0083 a0002c0005t0016g0084 a0002c0005t0025g0011 a0002c0006t0001g0111 a0002c0006t0002g0133 a0002c0006t0002g0134 a0002c0006t0002g0135 a0002c0006t0002g0208 a0002c0006t0008g0062 a0002c0006t0011g0100 a0002c0009t0003g0116 a0002c0009t0010g0143 a0002c0010t0008g0002 a0002c0010t0008g0003 a0002c0010t0008g0004 a0002c0010t0008g0005 a0002c0014t0006g0157 a0002c0015t0017g0082 a0002c0015t0017g0113 a0002c0016t0022g0076 a0002c0016t0022g0085 a0002c0020t0006g0154 a0002c0020t0006g0171 a0002c0028t0001g0072 a0002c0037t0027g0191 a0003c0026t0004g0077 a0003c0031t0004g0088 a0004c0011t0004g0180 a0006c0033t0014g0200 a0009c0041t0002g0156	96	230	0.4174	-15	c.953 others(32): Show c.953-1698_953-1684delAACAAAAAAAAGAGA		ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding	7/21					INFO_REALIGN_3_PRIME	chr1	TogoVar
ELAVL1_chr19_7953573_8010641	7953934	CATTTTGA others(8): Show CATTTTGAAATTCTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0018 a0001c0002t0005g0018	1	276	0.0036	-15	c.95 others(26): Show c.9534_*9548delAAAGAATTTCAAAAT		ELAVL1	ENSG00000066044.15	transcript	ENST00000407627.7	protein_coding					4638		chr19	TogoVar
ELAVL1_chr19_7953573_8010641	8009532	TTTATTAT others(8): Show TTTATTATTATTATTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp1 NA18977.hp2 NA18970.hp1 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0180 a0001c0001t0002g0190 a0001c0001t0002g0180 a0001c0001t0002g0190	2	276	0.0073	-15	c.-40 others(26): Show c.-4069_-4055delTAATAATAATAATAA		ELAVL1	ENSG00000066044.15	transcript	ENST00000407627.7	protein_coding					3892		chr19	TogoVar
ELAVL2_chr9_23685104_23831240	23699812	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02129.hp2 HG02602.hp1 others(8): Show HG02027.hp2 HG02129.hp2 HG02602.hp1 HG03490.hp1 HG03688.hp1 HG03831.hp1 NA18946.hp2 NA18952.hp1 NA18991.hp2 NA19084.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0012 a0001c0001t0016	a0001c0001t0001g0217 a0001c0001t0001g0232 a0001c0001t0001g0237 others(8): Show a0001c0001t0001g0217 a0001c0001t0001g0232 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0243 a0001c0001t0003g0313 a0001c0001t0003g0341 a0001c0001t0007g0223 a0001c0001t0007g0268 a0001c0001t0012g0293 a0001c0001t0016g0246	11	352	0.0313	-15	c.713 others(32): Show c.713+1552_713+1566delAAAAAAAAAAAAAAA		ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	5/6						chr9	TogoVar
ELAVL2_chr9_23685104_23831240	23702951	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0122 a0001c0001t0006g0122	1	352	0.0028	-15	c.488 others(32): Show c.488-1362_488-1348delTTTTTTTTTTTTTTT		ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	4/6						chr9	TogoVar
ELAVL2_chr9_23685104_23831240	23779979	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0132 a0001c0001t0008g0132	1	352	0.0028	-15	c.-15 others(34): Show c.-15-17745_-15-17731delTTTTTTTTTTTTTTT		ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	1/6						chr9	TogoVar
ELAVL3_chr19_11446326_11486046	11464736	CCACACAC others(8): Show CCACACACATACACCA	C C	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0303 a0001c0001t0005g0303	1	318	0.0031	-15	c.333 others(32): Show c.333+1421_333+1435delTGGTGTATGTGTGTG		ELAVL3	ENSG00000196361.10	transcript	ENST00000359227.8	protein_coding	3/6						chr19	TogoVar
ELAVL3_chr19_11446326_11486046	11465111	TACACCAC others(8): Show TACACCACACACATAC	T T	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03491.hp2 HG03492.hp1 others(1): Show HG02602.hp1 HG03491.hp2 HG03492.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0028 a0001c0001t0020 a0001c0001t0028	a0001c0001t0020g0063 a0001c0001t0020g0064 a0001c0001t0028g0283 others(1): Show a0001c0001t0020g0063 a0001c0001t0020g0064 a0001c0001t0028g0283 a0001c0001t0028g0284	4	318	0.0126	-15	c.333 others(32): Show c.333+1046_333+1060delGTATGTGTGTGGTGT		ELAVL3	ENSG00000196361.10	transcript	ENST00000359227.8	protein_coding	3/6						chr19	TogoVar
ELAVL3_chr19_11446326_11486046	11465265	TACACCAC others(8): Show TACACCACACACATAC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01109.hp1 HG01261.hp1 others(28): Show HG01081.hp1 HG01109.hp1 HG01261.hp1 HG01346.hp1 HG02055.hp2 HG02109.hp1 HG02145.hp1 HG02451.hp1 HG02572.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02886.hp1 HG02897.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03195.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03831.hp2 NA18522.hp2 NA18906.hp2 NA19240.hp1 NA20129.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0035 a0001c0001t0036 a0001c0001t0066	a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 others(24): Show a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0065 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0274 a0001c0001t0001g0282 a0001c0001t0003g0001 a0001c0001t0003g0003 a0001c0001t0003g0013 a0001c0001t0003g0015 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0032 a0001c0001t0006g0048 a0001c0001t0006g0056 a0001c0001t0008g0058 a0001c0001t0035g0028 a0001c0001t0036g0029 a0001c0001t0066g0273	31	318	0.0975	-15	c.333 others(30): Show c.333+892_333+906delGTATGTGTGTGGTGT		ELAVL3	ENSG00000196361.10	transcript	ENST00000359227.8	protein_coding	3/6						chr19	TogoVar
ELAVL3_chr19_11446326_11486046	11465301	CACACACC others(8): Show CACACACCACACACAT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	318	0.0031	-15	c.333 others(30): Show c.333+856_333+870delATGTGTGTGGTGTGT		ELAVL3	ENSG00000196361.10	transcript	ENST00000359227.8	protein_coding	3/6						chr19	TogoVar
ELAVL3_chr19_11446326_11486046	11484482	ACCACAAC others(8): Show ACCACAACCTTGGTCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	318	0.0031	-15	c.-38 others(26): Show c.-3889_-3875delAGACCAAGGTTGTGG		ELAVL3	ENSG00000196361.10	transcript	ENST00000359227.8	protein_coding					3437		chr19	TogoVar
ELF1_chr13_40926924_41024316	41016914	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0078 a0002c0002t0002g0078	1	362	0.0028	-15	c.-22 others(34): Show c.-229+2299_-229+2313delTTTTTTTTTTTTTTT		ELF1	ENSG00000120690.16	transcript	ENST00000239882.7	protein_coding	1/8						chr13	TogoVar
ELF1_chr13_40926924_41024316	41016936	AAAAAAAA others(8): Show AAAAAAAAAAAAATAT	A A	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0279 a0002c0002t0002g0279	1	362	0.0028	-15	c.-22 others(34): Show c.-229+2277_-229+2291delATATTTTTTTTTTTT		ELF1	ENSG00000120690.16	transcript	ENST00000239882.7	protein_coding	1/8						chr13	TogoVar
ELF2_chr4_139052265_139182218	139081628	GATAAAAA others(8): Show GATAAAAAGGTATTCT	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	342	0.0029	-15	c.239 others(32): Show c.239-8076_239-8062delAGAATACCTTTTTAT		ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	4/9						chr4	TogoVar
ELF2_chr4_139052265_139182218	139092409	TAACATAC others(8): Show TAACATACATAACATA	T T	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0117 a0002c0002t0002g0117	1	342	0.0029	-15	c.239 others(34): Show c.239-18857_239-18843delTATGTTATGTATGTT		ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	4/9						chr4	TogoVar
ELF2_chr4_139052265_139182218	139134584	ATTTATTT others(8): Show ATTTATTTTATTTTAT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0114 a0002c0002t0003g0114	1	342	0.0029	-15	c.72+ others(30): Show c.72+3031_72+3045delATAAAATAAAATAAA		ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	3/9						chr4	TogoVar
ELF2_chr4_139052265_139182218	139134613	ATTTTATT others(8): Show ATTTTATTTATTTTAT	A A	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01358.hp1 HG03492.hp2 others(1): Show HG01175.hp1 HG01358.hp1 HG03492.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0067 a0001c0001t0001g0068 others(1): Show a0001c0001t0001g0061 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0191	4	342	0.0117	-15	c.72+ others(30): Show c.72+3002_72+3016delATAAAATAAATAAAA		ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	3/9						chr4	TogoVar
ELF2_chr4_139052265_139182218	139172882	CGGGGGGG others(8): Show CGGGGGGGGGGGGGGG	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	342	0.0029	-15	c.-25 others(34): Show c.-252+4070_-252+4084delCCCCCCCCCCCCCCC		ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	1/9						chr4	TogoVar
ELFN1_chr7_1665277_1752946	1677686	GCCGATGT others(8): Show GCCGATGTGGGTTCAT	G G	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	302	0.0033	-15	c.-54 others(34): Show c.-549+7333_-549+7347delCCGATGTGGGTTCAT		ELFN1	ENSG00000225968.8	transcript	ENST00000424383.5	protein_coding	1/3						chr7	TogoVar
ELFN1_chr7_1665277_1752946	1706424	AAAAACAA others(8): Show AAAAACAAAACAAAAC	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 NA19043.hp1 HG01109.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0025 a0001c0001 a0001c0025	a0001c0001t0003 a0001c0025t0058 a0001c0001t0003 a0001c0025t0058	a0001c0001t0003g0039 a0001c0025t0058g0038 a0001c0001t0003g0039 a0001c0025t0058g0038	2	302	0.0066	-15	c.-45 others(34): Show c.-455-2635_-455-2621delAAACAAAACAAAACA		ELFN1	ENSG00000225968.8	transcript	ENST00000424383.5	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr7	TogoVar
ELK3_chr12_96189375_96274824	96201413	GAGTCTGA others(8): Show GAGTCTGAGATCAACC	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01070.hp1 HG01952.hp2 others(4): Show HG00639.hp2 HG01070.hp1 HG01952.hp2 HG01993.hp1 HG02293.hp2 HG02300.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0013 a0001c0001t0009g0014 a0001c0001t0009g0015 others(4): Show a0001c0001t0009g0013 a0001c0001t0009g0014 a0001c0001t0009g0015 a0001c0001t0009g0016 a0001c0001t0009g0017 a0001c0001t0009g0018 a0001c0001t0009g0019	7	354	0.0198	-15	c.-3+ others(30): Show c.-3+6709_-3+6723delAGTCTGAGATCAACC		ELK3	ENSG00000111145.8	transcript	ENST00000228741.8	protein_coding	1/4						chr12	TogoVar
ELK3_chr12_96189375_96274824	96211486	TTTGTGTG others(8): Show TTTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	2	354	0.0057	-15	c.-2- others(32): Show c.-2-12077_-2-12063delTGTGTGTGTGTGTGT		ELK3	ENSG00000111145.8	transcript	ENST00000228741.8	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr12	TogoVar
ELL2_chr5_95880098_95966851	95954583	CTTTTTTT others(8): Show CTTTTTTTTTTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01243.hp1 HG02886.hp2 others(1): Show HG00741.hp2 HG01243.hp1 HG02886.hp2 HG03486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0145 others(1): Show a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146	4	314	0.0127	-15	c.147 others(32): Show c.147+6977_147+6991delAAGAAAAAAAAAAAA		ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	1/11						chr5	TogoVar
ELL3_chr15_43767620_43781966	43778581	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG02630.hp1 HG02809.hp2 others(3): Show HG01243.hp1 HG02630.hp1 HG02809.hp2 HG02886.hp1 HG03209.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	6	372	0.0161	-15	c.-16 others(26): Show c.-1695_-1681delTTTTTTTTTTTTTTT		ELL3	ENSG00000128886.12	transcript	ENST00000319359.8	protein_coding					1616		chr15	TogoVar
ELL_chr19_18437663_18527070	18491249	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03540.hp2 NA20129.hp1 HG02559.hp1 HG03540.hp2 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0111 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0111 a0002c0002t0001g0134 a0002c0002t0001g0135	3	244	0.0123	-15	c.136 others(34): Show c.136-18382_136-18368delAAAAAAAAAAAAAAA		ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	1/11						chr19	TogoVar
ELMO1_chr7_36847906_37453864	36885319	AAACAACA others(8): Show AAACAACAACAACAAC	A A	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01358.hp2 HG01123.hp1 HG01358.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0001 a0001c0002t0004	a0001c0002t0001g0081 a0001c0002t0004g0047 a0001c0002t0001g0081 a0001c0002t0004g0047	2	92	0.0217	-15	c.171 others(34): Show c.1714+2226_1714+2240delGTTGTTGTTGTTGTT		ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	18/21						chr7	TogoVar
ELMO1_chr7_36847906_37453864	36988018	AAAGTGCT others(8): Show AAAGTGCTGGGATTAC	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03453.hp2 HG03130.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0005 a0001c0001t0001 a0001c0002t0005	a0001c0001t0001g0005 a0001c0002t0005g0031 a0001c0001t0001g0005 a0001c0002t0005g0031	2	92	0.0217	-15	c.143 others(36): Show c.1437+25266_1437+25280delGTAATCCCAGCACTT		ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	16/21						chr7	TogoVar
ELMO1_chr7_36847906_37453864	37104010	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02559.hp2 HG02615.hp2 others(4): Show HG01243.hp2 HG02559.hp2 HG02615.hp2 HG02717.hp2 HG03579.hp1 HG03579.hp2 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0003 a0001c0003t0002 a0001c0005t0002	a0001c0001t0002g0030 a0001c0001t0003g0017 a0001c0002t0001g0071 others(4): Show a0001c0001t0002g0030 a0001c0001t0003g0017 a0001c0002t0001g0071 a0001c0002t0003g0038 a0001c0003t0002g0076 a0001c0003t0002g0089 a0001c0005t0002g0042	7	92	0.0761	-15	c.119 others(34): Show c.1192-7298_1192-7284delTTTTTTTTTTTTTTT		ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	14/21						chr7	TogoVar
ELMO1_chr7_36847906_37453864	37256724	GGGGAAGG others(8): Show GGGGAAGGGAAGGGAA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00741.hp1 HG01106.hp2 others(40): Show HG00735.hp1 HG00741.hp1 HG01106.hp2 HG01123.hp1 HG01192.hp1 HG01243.hp2 HG01258.hp1 HG01261.hp1 HG01358.hp2 HG01978.hp2 HG02027.hp1 HG02055.hp1 HG02109.hp1 HG02559.hp1 HG02559.hp2 HG02615.hp2 HG02630.hp1 HG02717.hp1 HG02717.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG03098.hp1 HG03098.hp2 HG03195.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03492.hp2 HG03927.hp2 HG04228.hp1 HG06807.hp1 NA18906.hp2 NA18970.hp1 NA19000.hp1 NA19090.hp2 NA19240.hp2 NA20300.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0015 a0001c0001t0016 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0009 a0001c0002t0011 a0001c0005t0002 a0001c0005t0007 a0001c0007t0001	a0001c0001t0001g0005 a0001c0001t0001g0068 a0001c0001t0001g0090 others(40): Show a0001c0001t0001g0005 a0001c0001t0001g0068 a0001c0001t0001g0090 a0001c0001t0002g0030 a0001c0001t0002g0067 a0001c0001t0003g0044 a0001c0001t0003g0072 a0001c0001t0004g0007 a0001c0001t0005g0006 a0001c0001t0005g0075 a0001c0001t0006g0004 a0001c0001t0006g0008 a0001c0001t0015g0061 a0001c0001t0016g0060 a0001c0002t0001g0010 a0001c0002t0001g0052 a0001c0002t0001g0054 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0081 a0001c0002t0002g0033 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0087 a0001c0002t0003g0028 a0001c0002t0003g0032 a0001c0002t0003g0037 a0001c0002t0003g0038 a0001c0002t0003g0051 a0001c0002t0003g0077 a0001c0002t0004g0023 a0001c0002t0004g0047 a0001c0002t0004g0053 a0001c0002t0005g0056 a0001c0002t0006g0021 a0001c0002t0007g0001 a0001c0002t0007g0018 a0001c0002t0007g0064 a0001c0002t0009g0069 a0001c0002t0011g0039 a0001c0005t0002g0042 a0001c0005t0007g0016 a0001c0007t0001g0015	43	92	0.4674	-15	c.413 others(32): Show c.413+2442_413+2456delTTCCCTTCCCTTCCC		ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	6/21						chr7	TogoVar
ELMOD3_chr2_85349769_85396748	85359274	GGTACTAT others(8): Show GGTACTATCAAGCTGT	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01081.hp2 others(2): Show HG01069.hp1 HG01071.hp1 HG01081.hp2 HG01261.hp2 HG01515.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0012 a0003c0003t0001g0074 a0003c0003t0001g0075 others(1): Show a0003c0003t0001g0012 a0003c0003t0001g0074 a0003c0003t0001g0075 a0003c0003t0001g0076	5	386	0.0130	-15	c.54+ others(30): Show c.54+2023_54+2037delGTACTATCAAGCTGT		ELMOD3	ENSG00000115459.18	transcript	ENST00000409013.8	protein_coding	4/13						chr2	TogoVar
ELN_chr7_74023173_74074907	74053290	CCCAGGTG others(8): Show CCCAGGTGCTGCGGTT	C C	splice_donor_variant others(3): Show splice_donor_variant disruptive_inframe_deletion splice_region_variant intron_variant	HIGH	NA19012.hp1 NA19012.hp1	a0015 a0015	a0015c0014 a0015c0014	a0015c0014t0001 a0015c0014t0001	a0015c0014t0001g0060 a0015c0014t0001g0060	1	366	0.0027	-15	c.108 others(26): Show c.1085_1096+3delCTGCGGTTCCAGGTG	p.Ala others(13): Show p.Ala362_Pro365del	ELN	ENSG00000049540.19	transcript	ENST00000252034.12	protein_coding	18/33	1100/3397	1085/2175	362/724		INFO_REALIGN_3_PRIME	chr7	TogoVar
ELOA_chr1_23738471_23767059	23758247	ATTTATTT others(8): Show ATTTATTTATTTATTT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0010 a0003c0011t0010	a0003c0011t0010g0052 a0003c0011t0010g0052	1	400	0.0025	-15	c.225 others(34): Show c.2257+1126_2257+1140delATTTATTTATTTTTT		ELOA	ENSG00000011007.13	transcript	ENST00000613537.5	protein_coding	10/10					INFO_REALIGN_3_PRIME	chr1	TogoVar
ELOA_chr1_23738471_23767059	23758251	ATTTATTT others(8): Show ATTTATTTATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 NA18957.hp2 HG02572.hp2 NA18957.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0143 a0002c0003t0001g0157 a0001c0001t0001g0143 a0002c0003t0001g0157	2	400	0.0050	-15	c.225 others(34): Show c.2257+1130_2257+1144delATTTATTTTTTTTTT		ELOA	ENSG00000011007.13	transcript	ENST00000613537.5	protein_coding	10/10					INFO_REALIGN_3_PRIME	chr1	TogoVar
ELOA_chr1_23738471_23767059	23765206	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp1 NA18940.hp2 NA18940.hp1 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0171 a0001c0002t0001g0235 a0001c0001t0001g0171 a0001c0002t0001g0235	2	400	0.0050	-15	c.56 others(26): Show c.5634_*5648delTTTTTTTTTTTTTTT		ELOA	ENSG00000011007.13	transcript	ENST00000613537.5	protein_coding					3148		chr1	TogoVar
ELOVL5_chr6_53262404_53353950	53304436	CTTTTATT others(8): Show CTTTTATTTTATTTTA	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02818.hp2 HG02886.hp2 others(7): Show HG02257.hp2 HG02818.hp2 HG02886.hp2 HG03486.hp1 NA18960.hp1 NA18961.hp2 NA18964.hp1 NA19000.hp2 NA19007.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0072 others(5): Show a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139	10	320	0.0313	-15	c.-8- others(30): Show c.-8-8744_-8-8730delTAAAATAAAATAAAA		ELOVL5	ENSG00000012660.14	transcript	ENST00000304434.11	protein_coding	1/7						chr6	TogoVar
ELOVL5_chr6_53262404_53353950	53319270	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03098.hp1 NA21309.hp2 HG02055.hp1 HG03098.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0017 a0001c0001t0001 a0001c0001t0006 a0001c0001t0017	a0001c0001t0001g0042 a0001c0001t0006g0307 a0001c0001t0017g0302 a0001c0001t0001g0042 a0001c0001t0006g0307 a0001c0001t0017g0302	3	320	0.0094	-15	c.-8- others(32): Show c.-8-23578_-8-23564delTTTTTTTTTTTTTTT		ELOVL5	ENSG00000012660.14	transcript	ENST00000304434.11	protein_coding	1/7						chr6	TogoVar
ELOVL6_chr4_110040846_110203615	110044285	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 NA18969.hp2 HG00323.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0081 a0001c0001t0055 a0001c0001t0081	a0001c0001t0055g0063 a0001c0001t0081g0068 a0001c0001t0055g0063 a0001c0001t0081g0068	2	338	0.0059	-15	c.70 others(26): Show c.7038_*7052delGTTTTTTTTTTTTTT		ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding					1560		chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110084582	ATATATAT others(8): Show ATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA18945.hp2 NA18990.hp1 HG02083.hp2 NA18945.hp2 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0041 a0001c0001t0005 a0001c0001t0041	a0001c0001t0005g0201 a0001c0001t0005g0285 a0001c0001t0041g0119 a0001c0001t0005g0201 a0001c0001t0005g0285 a0001c0001t0041g0119	3	338	0.0089	-15	c.221 others(34): Show c.221+20900_221+20914delAAAAAAAAATATATA		ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3						chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110100136	CTGGCCAT others(8): Show CTGGCCATATTTATAA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00558.hp2 others(92): Show HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00735.hp2 HG01109.hp1 HG01168.hp2 HG01169.hp1 HG01261.hp2 HG01358.hp2 HG01515.hp2 HG01884.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02027.hp2 HG02040.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02129.hp2 HG02132.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp1 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02523.hp1 HG02559.hp2 HG02615.hp1 HG02630.hp1 HG02647.hp1 HG02717.hp2 HG02738.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03831.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG06807.hp1 NA18612.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18946.hp2 NA18947.hp2 NA18949.hp1 NA18951.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18966.hp2 NA18969.hp2 NA18970.hp2 NA18974.hp2 NA18982.hp2 NA18984.hp1 NA18985.hp1 NA18992.hp1 NA18999.hp1 NA19000.hp2 NA19003.hp1 NA19004.hp2 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19066.hp1 NA19067.hp2 NA19080.hp1 NA19080.hp2 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19240.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0016 a0001c0001t0019 a0001c0001t0021 a0001c0001t0025 a0001c0001t0027 a0001c0001t0034 a0001c0001t0037 a0001c0001t0038 a0001c0001t0044 a0001c0001t0046 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0071 a0001c0001t0073 a0001c0001t0074 a0001c0001t0076	a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0115 others(92): Show a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0127 a0001c0001t0001g0147 a0001c0001t0001g0182 a0001c0001t0001g0203 a0001c0001t0001g0213 a0001c0001t0001g0234 a0001c0001t0001g0241 a0001c0001t0001g0275 a0001c0001t0001g0279 a0001c0001t0001g0303 a0001c0001t0001g0305 a0001c0001t0001g0338 a0001c0001t0002g0032 a0001c0001t0002g0061 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0076 a0001c0001t0002g0142 a0001c0001t0002g0159 a0001c0001t0002g0164 a0001c0001t0002g0178 a0001c0001t0002g0180 a0001c0001t0002g0189 a0001c0001t0002g0240 a0001c0001t0002g0244 a0001c0001t0002g0272 a0001c0001t0002g0286 a0001c0001t0002g0288 a0001c0001t0002g0290 a0001c0001t0002g0295 a0001c0001t0002g0298 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0314 a0001c0001t0003g0053 a0001c0001t0003g0094 a0001c0001t0003g0135 a0001c0001t0003g0196 a0001c0001t0003g0205 a0001c0001t0003g0292 a0001c0001t0003g0310 a0001c0001t0003g0313 a0001c0001t0004g0122 a0001c0001t0005g0134 a0001c0001t0005g0197 a0001c0001t0005g0202 a0001c0001t0005g0312 a0001c0001t0006g0194 a0001c0001t0007g0048 a0001c0001t0007g0078 a0001c0001t0007g0079 a0001c0001t0007g0158 a0001c0001t0007g0160 a0001c0001t0007g0250 a0001c0001t0007g0291 a0001c0001t0009g0073 a0001c0001t0009g0157 a0001c0001t0010g0181 a0001c0001t0010g0187 a0001c0001t0010g0269 a0001c0001t0010g0317 a0001c0001t0010g0322 a0001c0001t0013g0011 a0001c0001t0013g0012 a0001c0001t0016g0098 a0001c0001t0016g0177 a0001c0001t0019g0124 a0001c0001t0019g0229 a0001c0001t0021g0018 a0001c0001t0021g0107 a0001c0001t0025g0256 a0001c0001t0027g0022 a0001c0001t0034g0043 a0001c0001t0037g0002 a0001c0001t0038g0179 a0001c0001t0044g0100 a0001c0001t0046g0006 a0001c0001t0052g0191 a0001c0001t0053g0237 a0001c0001t0054g0284 a0001c0001t0055g0063 a0001c0001t0056g0297 a0001c0001t0060g0311 a0001c0001t0061g0083 a0001c0001t0062g0116 a0001c0001t0071g0075 a0001c0001t0073g0126 a0001c0001t0074g0015 a0001c0001t0076g0080	95	338	0.2811	-15	c.221 others(32): Show c.221+5346_221+5360delTTATAAATATGGCCA		ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3						chr4	TogoVar
ELOVL7_chr5_60746791_60849269	60819020	AGAGGGGA others(8): Show AGAGGGGAGGGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG03831.hp1 NA19063.hp1 HG03831.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0207 a0001c0001t0002g0213 a0001c0001t0002g0207 a0001c0001t0002g0213	2	258	0.0078	-15	c.-85 others(34): Show c.-85-19805_-85-19791delCCCTCCCCTCCCCTC		ELOVL7	ENSG00000164181.14	transcript	ENST00000508821.6	protein_coding	1/8						chr5	TogoVar
ELP1_chr9_108862517_108939124	108872803	TGAAAAAA others(8): Show TGAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03225.hp2 HG01243.hp1 HG03225.hp2	a0005 a0021 a0005 a0021	a0005c0030 a0021c0044 a0005c0030 a0021c0044	a0005c0030t0001 a0021c0044t0001 a0005c0030t0001 a0021c0044t0001	a0005c0030t0001g0125 a0021c0044t0001g0126 a0005c0030t0001g0125 a0021c0044t0001g0126	2	416	0.0048	-15	c.393 others(34): Show c.3931+2077_3931+2091delTTTTTTTTTTTTTTC		ELP1	ENSG00000070061.16	transcript	ENST00000374647.10	protein_coding	36/36						chr9	TogoVar
ELP1_chr9_108862517_108939124	108924745	GCAATCAC others(8): Show GCAATCACATATGGTC	G G	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01109.hp1 HG02145.hp2 others(5): Show HG00733.hp2 HG01109.hp1 HG02145.hp2 HG02257.hp1 HG03195.hp2 HG03453.hp1 HG03486.hp1 NA18522.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0009 a0007c0010t0009	a0007c0010t0009g0361 a0007c0010t0009g0363 a0007c0010t0009g0367 others(5): Show a0007c0010t0009g0361 a0007c0010t0009g0363 a0007c0010t0009g0367 a0007c0010t0009g0368 a0007c0010t0009g0369 a0007c0010t0009g0370 a0007c0010t0009g0371 a0007c0010t0009g0385	8	416	0.0192	-15	c.466 others(32): Show c.466+1763_466+1777delGACCATATGTGATTG		ELP1	ENSG00000070061.16	transcript	ENST00000374647.10	protein_coding	5/36						chr9	TogoVar
ELP3_chr8_28088139_28196153	28106539	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(281): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18988.hp1 NA18988.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19067.hp1 NA19067.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0014 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0002t0001 a0001c0002t0009 a0001c0002t0011 a0001c0004t0001 a0002c0005t0002	a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0015 others(263): Show a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0297 a0001c0001t0001g0369 a0001c0001t0001g0370 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0038 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0003g0177 a0001c0001t0003g0187 a0001c0001t0003g0189 a0001c0001t0003g0203 a0001c0001t0003g0212 a0001c0001t0003g0216 a0001c0001t0004g0002 a0001c0001t0004g0017 a0001c0001t0004g0018 a0001c0001t0004g0019 a0001c0001t0004g0020 a0001c0001t0004g0021 a0001c0001t0004g0245 a0001c0001t0004g0246 a0001c0001t0004g0247 a0001c0001t0004g0248 a0001c0001t0004g0249 a0001c0001t0004g0250 a0001c0001t0004g0251 a0001c0001t0004g0252 a0001c0001t0004g0259 a0001c0001t0004g0260 a0001c0001t0004g0261 a0001c0001t0004g0262 a0001c0001t0004g0263 a0001c0001t0004g0264 a0001c0001t0004g0265 a0001c0001t0004g0266 a0001c0001t0004g0267 a0001c0001t0004g0268 a0001c0001t0004g0269 a0001c0001t0004g0270 a0001c0001t0004g0271 a0001c0001t0004g0272 a0001c0001t0004g0273 a0001c0001t0004g0274 a0001c0001t0004g0275 a0001c0001t0004g0276 a0001c0001t0004g0277 a0001c0001t0004g0280 a0001c0001t0004g0281 a0001c0001t0004g0282 a0001c0001t0004g0283 a0001c0001t0004g0284 a0001c0001t0004g0288 a0001c0001t0004g0289 a0001c0001t0004g0290 a0001c0001t0004g0292 a0001c0001t0004g0293 a0001c0001t0004g0295 a0001c0001t0004g0298 a0001c0001t0004g0299 a0001c0001t0004g0300 a0001c0001t0004g0302 a0001c0001t0004g0303 a0001c0001t0004g0304 a0001c0001t0004g0305 a0001c0001t0004g0306 a0001c0001t0005g0239 a0001c0001t0005g0258 a0001c0001t0005g0278 a0001c0001t0005g0279 a0001c0001t0005g0285 a0001c0001t0005g0286 a0001c0001t0005g0287 a0001c0001t0005g0296 a0001c0001t0005g0301 a0001c0001t0006g0240 a0001c0001t0006g0253 a0001c0001t0006g0254 a0001c0001t0006g0255 a0001c0001t0006g0256 a0001c0001t0006g0257 a0001c0001t0007g0150 a0001c0001t0007g0151 a0001c0001t0007g0152 a0001c0001t0007g0153 a0001c0001t0007g0154 a0001c0001t0007g0155 a0001c0001t0010g0169 a0001c0001t0014g0209 a0001c0001t0016g0002 a0001c0001t0018g0244 a0001c0001t0019g0291 a0001c0002t0001g0148 a0001c0002t0009g0141 a0001c0002t0009g0142 a0001c0002t0009g0143 a0001c0002t0009g0146 a0001c0002t0009g0147 a0001c0002t0011g0149 a0001c0004t0001g0145 a0002c0005t0002g0127	284	398	0.7136	-15	c.259 others(30): Show c.259-160_259-146delAAAAAAAAAAAAAAA		ELP3	ENSG00000134014.18	transcript	ENST00000256398.13	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
ELP4_chr11_31504767_31795324	31593227	CTGTTGTT others(8): Show CTGTTGTTGTTGTTGT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(133): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01981.hp2 HG01993.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02080.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02300.hp1 HG02486.hp2 HG02523.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02698.hp1 HG02717.hp2 HG02738.hp1 HG02818.hp1 HG02818.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG03041.hp2 HG03139.hp2 HG03239.hp1 HG03239.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp2 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18747.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp2 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18951.hp2 NA18954.hp1 NA18959.hp2 NA18960.hp2 NA18967.hp1 NA18968.hp2 NA18970.hp2 NA18971.hp1 NA18974.hp1 NA18977.hp1 NA18978.hp1 NA18983.hp2 NA18984.hp2 NA18987.hp2 NA18988.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18991.hp1 NA18994.hp1 NA18998.hp2 NA18999.hp1 NA19004.hp1 NA19060.hp1 NA19063.hp2 NA19065.hp1 NA19066.hp1 NA19068.hp2 NA19070.hp1 NA19079.hp2 NA19082.hp2 NA19083.hp1 NA19084.hp2 NA19086.hp2 NA19090.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0008 a0002c0003 others(2): Show a0001c0001 a0001c0008 a0002c0003 a0003c0007 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(49): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0028 a0001c0001t0029 a0001c0001t0031 a0001c0001t0035 a0001c0001t0037 a0001c0001t0039 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0051 a0001c0001t0052 a0001c0001t0054 a0001c0001t0056 a0001c0001t0059 a0001c0001t0060 a0001c0001t0062 a0001c0001t0066 a0001c0001t0070 a0001c0001t0072 a0001c0001t0074 a0001c0001t0075 a0001c0001t0078 a0001c0001t0081 a0001c0001t0083 a0001c0008t0002 a0002c0003t0082 a0003c0007t0001 a0004c0005t0009	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0114 others(133): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0114 a0001c0001t0001g0118 a0001c0001t0001g0128 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0185 a0001c0001t0002g0100 a0001c0001t0002g0102 a0001c0001t0002g0106 a0001c0001t0002g0109 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0120 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0130 a0001c0001t0002g0137 a0001c0001t0002g0139 a0001c0001t0002g0143 a0001c0001t0002g0148 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0173 a0001c0001t0002g0175 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0254 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0003g0103 a0001c0001t0003g0181 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0186 a0001c0001t0003g0190 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0196 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0206 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0220 a0001c0001t0004g0001 a0001c0001t0005g0131 a0001c0001t0005g0142 a0001c0001t0005g0191 a0001c0001t0005g0203 a0001c0001t0005g0264 a0001c0001t0006g0163 a0001c0001t0006g0170 a0001c0001t0007g0158 a0001c0001t0008g0208 a0001c0001t0008g0209 a0001c0001t0008g0216 a0001c0001t0008g0218 a0001c0001t0008g0269 a0001c0001t0008g0270 a0001c0001t0009g0180 a0001c0001t0009g0187 a0001c0001t0009g0195 a0001c0001t0009g0198 a0001c0001t0010g0009 a0001c0001t0010g0110 a0001c0001t0010g0122 a0001c0001t0010g0132 a0001c0001t0010g0145 a0001c0001t0011g0104 a0001c0001t0011g0189 a0001c0001t0011g0197 a0001c0001t0012g0136 a0001c0001t0013g0149 a0001c0001t0013g0154 a0001c0001t0013g0156 a0001c0001t0015g0119 a0001c0001t0015g0146 a0001c0001t0015g0162 a0001c0001t0016g0168 a0001c0001t0016g0171 a0001c0001t0017g0266 a0001c0001t0017g0268 a0001c0001t0018g0205 a0001c0001t0021g0107 a0001c0001t0021g0112 a0001c0001t0022g0101 a0001c0001t0023g0121 a0001c0001t0023g0160 a0001c0001t0025g0155 a0001c0001t0025g0224 a0001c0001t0028g0201 a0001c0001t0028g0204 a0001c0001t0029g0164 a0001c0001t0029g0165 a0001c0001t0031g0125 a0001c0001t0035g0108 a0001c0001t0037g0147 a0001c0001t0039g0212 a0001c0001t0041g0129 a0001c0001t0042g0157 a0001c0001t0043g0153 a0001c0001t0046g0172 a0001c0001t0047g0176 a0001c0001t0048g0215 a0001c0001t0051g0134 a0001c0001t0052g0267 a0001c0001t0054g0140 a0001c0001t0056g0111 a0001c0001t0059g0182 a0001c0001t0060g0202 a0001c0001t0062g0265 a0001c0001t0066g0141 a0001c0001t0070g0219 a0001c0001t0072g0159 a0001c0001t0074g0169 a0001c0001t0075g0217 a0001c0001t0078g0099 a0001c0001t0081g0223 a0001c0001t0083g0105 a0001c0008t0002g0113 a0002c0003t0082g0207 a0003c0007t0001g0225 a0004c0005t0009g0188	136	270	0.5037	-15	c.382 others(32): Show c.382-1514_382-1500delGTTGTTGTTGTTGTT		ELP4	ENSG00000109911.19	transcript	ENST00000640961.2	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr11	TogoVar
ELSPBP1_chr19_47989632_48030154	48003886	CTTCTATT others(8): Show CTTCTATTCTATTCTA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(83): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01106.hp1 HG01123.hp2 HG01169.hp2 HG01175.hp2 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG01361.hp2 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01891.hp1 HG01928.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp2 HG02040.hp1 HG02071.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02148.hp2 HG02523.hp1 HG02572.hp2 HG02615.hp1 HG02683.hp2 HG02723.hp1 HG02809.hp2 HG02886.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG03130.hp1 HG03139.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp2 HG03516.hp1 HG03688.hp1 HG03710.hp2 HG04115.hp1 HG04228.hp1 NA18747.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp2 NA18948.hp1 NA18949.hp2 NA18954.hp1 NA18957.hp1 NA18957.hp2 NA18963.hp2 NA18977.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18988.hp1 NA18989.hp2 NA18990.hp1 NA18998.hp2 NA19000.hp2 NA19012.hp2 NA19043.hp1 NA19064.hp2 NA19066.hp2 NA19074.hp1 NA19077.hp2 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19089.hp2 NA20129.hp2 NA20752.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0010 a0012 a0015 a0016 a0018	a0001c0001 a0002c0002 a0003c0003 others(9): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0005c0005 a0006c0006 a0007c0008 a0010c0011 a0012c0015 a0015c0016 a0016c0019 a0018c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 a0003c0003t0002 a0004c0004t0001 a0005c0005t0003 a0005c0005t0004 a0006c0006t0001 a0006c0006t0002 a0007c0008t0001 a0010c0011t0001 a0012c0015t0001 a0015c0016t0002 a0016c0019t0001 a0018c0020t0001	a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0030 others(82): Show a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0066 a0001c0001t0001g0100 a0001c0001t0001g0104 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0266 a0001c0001t0001g0273 a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0302 a0001c0001t0001g0308 a0001c0001t0001g0310 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0001g0363 a0001c0001t0002g0145 a0001c0001t0002g0156 a0001c0001t0002g0158 a0001c0001t0002g0160 a0001c0001t0002g0195 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0257 a0001c0001t0006g0258 a0001c0001t0006g0259 a0001c0001t0007g0301 a0001c0001t0010g0245 a0001c0001t0011g0239 a0002c0002t0001g0004 a0002c0002t0001g0053 a0002c0002t0001g0063 a0002c0002t0001g0076 a0002c0002t0001g0101 a0002c0002t0001g0267 a0002c0002t0001g0272 a0002c0002t0001g0312 a0002c0002t0001g0355 a0002c0002t0002g0128 a0002c0002t0002g0196 a0002c0002t0002g0197 a0003c0003t0001g0031 a0003c0003t0001g0297 a0003c0003t0001g0338 a0003c0003t0001g0349 a0003c0003t0002g0216 a0003c0003t0002g0238 a0003c0003t0002g0240 a0003c0003t0002g0244 a0004c0004t0001g0032 a0004c0004t0001g0045 a0004c0004t0001g0077 a0004c0004t0001g0271 a0004c0004t0001g0376 a0005c0005t0003g0017 a0005c0005t0004g0129 a0006c0006t0001g0377 a0006c0006t0002g0001 a0007c0008t0001g0347 a0007c0008t0001g0348 a0010c0011t0001g0251 a0012c0015t0001g0277 a0015c0016t0002g0146 a0016c0019t0001g0281 a0018c0020t0001g0005	86	388	0.2217	-15	c.-17 others(32): Show c.-17-4705_-17-4691delATTCTATTCTATTCT		ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr19	TogoVar
ELSPBP1_chr19_47989632_48030154	48016455	CTTTTCTT others(8): Show CTTTTCTTTCCTTCTT	C C	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	388	0.0026	-15	c.355 others(30): Show c.355+418_355+432delTTTCTTTCCTTCTTT		ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr19	TogoVar
EMC3_chr3_9957682_9991841	9978145	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02257.hp1 HG02622.hp1 others(5): Show HG01891.hp2 HG02257.hp1 HG02622.hp1 HG02809.hp2 HG02976.hp1 HG03098.hp2 HG03471.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0065 a0001c0001t0008 a0001c0001t0065	a0001c0001t0008g0017 a0001c0001t0008g0273 a0001c0001t0008g0274 others(4): Show a0001c0001t0008g0017 a0001c0001t0008g0273 a0001c0001t0008g0274 a0001c0001t0008g0275 a0001c0001t0008g0277 a0001c0001t0008g0278 a0001c0001t0065g0279	8	322	0.0248	-15	c.156 others(30): Show c.156-714_156-700delTTTTTTTTTTTTTTT		EMC3	ENSG00000125037.13	transcript	ENST00000245046.7	protein_coding	1/7						chr3	TogoVar
EMID1_chr22_29200896_29264597	29238254	AATTATTA others(8): Show AATTATTATTATTATT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03195.hp2 HG02622.hp1 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0001 a0001c0008t0002 a0001c0002t0001 a0001c0008t0002	a0001c0002t0001g0052 a0001c0008t0002g0047 a0001c0002t0001g0052 a0001c0008t0002g0047	2	348	0.0058	-15	c.107 others(34): Show c.1074+3940_1074+3954delTTATTATTATTATTA		EMID1	ENSG00000186998.16	transcript	ENST00000334018.11	protein_coding	12/14					INFO_REALIGN_3_PRIME	chr22	TogoVar
EMID1_chr22_29200896_29264597	29250733	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA19063.hp2 NA18986.hp1 NA19063.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0003 a0001c0002t0001 a0002c0001t0003	a0001c0002t0001g0060 a0002c0001t0003g0130 a0001c0002t0001g0060 a0002c0001t0003g0130	2	348	0.0058	-15	c.112 others(34): Show c.1120-3449_1120-3435delTTTTTTTTTTTTTTT		EMID1	ENSG00000186998.16	transcript	ENST00000334018.11	protein_coding	13/14					INFO_REALIGN_3_PRIME	chr22	TogoVar
EMILIN1_chr2_27073615_27091403	27086721	CCGGGGCG others(8): Show CCGGGGCGGGGCGGGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 NA20300.hp1 HG03540.hp2 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0018 a0002c0002t0003g0018	2	316	0.0063	-15	c.70 others(24): Show c.707_*721delCGGGGCGGGGCGGGG		EMILIN1	ENSG00000138080.14	transcript	ENST00000380320.9	protein_coding					319		chr2	TogoVar

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