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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ELP3_chr8_28088139_28196153	28106539	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0294 a0001c0001t0004g0294	1	398	0.0025	-16	c.259 others(31): Show c.259-161_259-146delAAAAAAAAAAAAAAAA	ELP3	ENSG00000134014.18	transcript	ENST00000256398.13	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
ELP3_chr8_28088139_28196153	28119572	TTATATAT others(9): Show TTATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01074.hp1 HG01106.hp1 others(25): Show HG00733.hp1 HG01074.hp1 HG01106.hp1 HG01257.hp2 HG01258.hp1 HG01952.hp1 HG02165.hp1 HG02572.hp2 HG02717.hp2 HG02723.hp2 HG02818.hp1 HG02896.hp1 HG02897.hp1 HG02970.hp2 HG03098.hp2 HG03453.hp2 HG03831.hp2 HG03834.hp2 NA18906.hp2 NA18942.hp1 NA18944.hp1 NA18947.hp1 NA18967.hp1 NA18971.hp1 NA18973.hp1 NA19003.hp1 NA19082.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0035 others(21): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0035 a0001c0001t0001g0140 a0001c0001t0001g0173 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0002g0038 a0001c0001t0002g0043 a0001c0001t0002g0054 a0001c0001t0002g0059 a0001c0001t0002g0084 a0001c0001t0002g0135 a0001c0001t0003g0212 a0001c0001t0003g0216 a0001c0001t0003g0231 a0001c0001t0003g0232 a0001c0001t0003g0348 a0001c0001t0003g0359 a0001c0001t0007g0155	28	398	0.0704	-16	c.617 others(33): Show c.617+6441_617+6456delATATATATATATATAT	ELP3	ENSG00000134014.18	transcript	ENST00000256398.13	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
ELP4_chr11_31504767_31795324	31599514	CACACACA others(9): Show CACACACACAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02056.hp2 HG03704.hp1 others(7): Show HG00621.hp1 HG02056.hp2 HG03704.hp1 HG04115.hp1 NA18954.hp2 NA18974.hp2 NA18990.hp2 NA19060.hp2 NA19082.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 a0001c0001t0018 a0001c0001t0057	a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 others(7): Show a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0085 a0001c0001t0004g0051 a0001c0001t0005g0028 a0001c0001t0012g0035 a0001c0001t0018g0013 a0001c0001t0018g0031 a0001c0001t0057g0087	10	270	0.0370	-16	c.514 others(33): Show c.514-4252_514-4237delCACACACAAAAAAAAA	ELP4	ENSG00000109911.19	transcript	ENST00000640961.2	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
ELP4_chr11_31504767_31795324	31678527	GTGTGTGT others(9): Show GTGTGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02615.hp2 HG02647.hp1 others(9): Show HG02257.hp1 HG02615.hp2 HG02647.hp1 HG02896.hp2 HG02897.hp1 HG03098.hp2 HG03130.hp2 HG03831.hp1 HG03927.hp2 HG04115.hp1 NA18946.hp1 NA18984.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0069 a0001c0002t0014 a0001c0002t0024 a0001c0002t0044 a0002c0003t0082	a0001c0001t0001g0025 a0001c0001t0001g0074 a0001c0001t0001g0076 others(9): Show a0001c0001t0001g0025 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0255 a0001c0001t0004g0051 a0001c0001t0007g0045 a0001c0001t0008g0269 a0001c0001t0069g0080 a0001c0002t0014g0246 a0001c0002t0024g0244 a0001c0002t0044g0226 a0002c0003t0082g0207	12	270	0.0444	-16	c.114 others(37): Show c.1143+28308_1143+28323delGTGTGTGTGTGTGTAT	ELP4	ENSG00000109911.19	transcript	ENST00000640961.2	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
ELP4_chr11_31504767_31795324	31794420	CCACACAC others(9): Show CCACACACACACACACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG01099.hp1 HG02258.hp2 others(19): Show HG00738.hp2 HG01099.hp1 HG02258.hp2 HG02300.hp2 HG02615.hp2 HG02647.hp1 HG02717.hp2 HG02818.hp2 HG02922.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03471.hp2 HG03540.hp1 NA18522.hp1 NA18906.hp1 NA18991.hp2 NA19030.hp1 NA19084.hp1 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(10): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0062 a0001c0001t0070 a0001c0001t0074 a0001c0001t0079 a0001c0001t0080 a0001c0002t0014 a0001c0002t0024 a0001c0002t0044 a0001c0002t0045	a0001c0001t0001g0019 a0001c0001t0001g0037 a0001c0001t0001g0135 others(19): Show a0001c0001t0001g0019 a0001c0001t0001g0037 a0001c0001t0001g0135 a0001c0001t0005g0061 a0001c0001t0005g0142 a0001c0001t0007g0072 a0001c0001t0008g0208 a0001c0001t0008g0216 a0001c0001t0008g0269 a0001c0001t0008g0270 a0001c0001t0062g0265 a0001c0001t0070g0219 a0001c0001t0074g0169 a0001c0001t0079g0249 a0001c0001t0080g0250 a0001c0002t0014g0097 a0001c0002t0014g0246 a0001c0002t0014g0256 a0001c0002t0024g0244 a0001c0002t0024g0248 a0001c0002t0044g0226 a0001c0002t0045g0245	22	270	0.0815	-16	c.10 others(29): Show c.10897_*10912delCACACACACACACACA	ELP4	ENSG00000109911.19	transcript	ENST00000640961.2	protein_coding		4097		chr11	TogoVar
ELSPBP1_chr19_47989632_48030154	47998446	AATCTCAG others(9): Show AATCTCAGGGATTGGGC	A A	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02895.hp2 HG03098.hp1 others(8): Show HG02040.hp2 HG02895.hp2 HG03098.hp1 NA18946.hp2 NA18971.hp2 NA18980.hp2 NA18985.hp2 NA18990.hp1 NA19002.hp2 NA19043.hp1 NA19077.hp1	a0001 a0005 a0006 others(2): Show a0001 a0005 a0006 a0013 a0014	a0001c0001 a0005c0005 a0006c0006 others(2): Show a0001c0001 a0005c0005 a0006c0006 a0013c0018 a0014c0017	a0001c0001t0001 a0005c0005t0003 a0006c0006t0001 others(2): Show a0001c0001t0001 a0005c0005t0003 a0006c0006t0001 a0013c0018t0001 a0014c0017t0003	a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0020 others(8): Show a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0005c0005t0003g0017 a0006c0006t0001g0022 a0013c0018t0001g0018 a0014c0017t0003g0026	11	388	0.0284	-16	c.-18 others(33): Show c.-18+3636_-18+3651delATCTCAGGGATTGGGC	ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding	1/6			chr19	TogoVar
ELSPBP1_chr19_47989632_48030154	48016456	TTTTCTTT others(9): Show TTTTCTTTCCTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00408.hp1 others(61): Show HG00099.hp2 HG00140.hp2 HG00408.hp1 HG00609.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01081.hp1 HG01123.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02165.hp1 HG02165.hp2 HG02293.hp2 HG02523.hp2 HG02630.hp2 HG02735.hp1 HG02976.hp2 HG03130.hp2 HG03579.hp1 HG03704.hp1 HG03831.hp2 HG03942.hp1 HG06807.hp1 NA18943.hp1 NA18948.hp1 NA18949.hp1 NA18952.hp1 NA18971.hp2 NA18979.hp1 NA18980.hp1 NA18983.hp1 NA18983.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA19000.hp1 NA19010.hp1 NA19012.hp2 NA19056.hp1 NA19068.hp2 NA19074.hp2 NA19082.hp1 NA19084.hp1 NA19085.hp2 NA20129.hp2 NA21309.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0007 a0012	a0001c0001 a0001c0022 a0002c0002 others(4): Show a0001c0001 a0001c0022 a0002c0002 a0004c0004 a0005c0005 a0007c0008 a0012c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0022t0001 a0002c0002t0001 a0004c0004t0001 a0004c0004t0002 a0005c0005t0004 a0007c0008t0001 a0007c0008t0002 a0007c0008t0003 a0012c0015t0001 a0012c0015t0002	a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0038 others(61): Show a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0047 a0001c0001t0001g0061 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0096 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0264 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0291 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0309 a0001c0001t0001g0327 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0001g0367 a0001c0001t0001g0369 a0001c0001t0001g0370 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0154 a0001c0001t0002g0156 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0195 a0001c0001t0002g0224 a0001c0001t0002g0226 a0001c0001t0002g0253 a0001c0001t0007g0301 a0001c0001t0008g0069 a0001c0022t0001g0097 a0002c0002t0001g0012 a0004c0004t0001g0041 a0004c0004t0001g0045 a0004c0004t0001g0064 a0004c0004t0001g0094 a0004c0004t0001g0304 a0004c0004t0001g0336 a0004c0004t0001g0343 a0004c0004t0001g0376 a0004c0004t0002g0184 a0004c0004t0002g0191 a0004c0004t0002g0222 a0005c0005t0004g0127 a0005c0005t0004g0135 a0007c0008t0001g0328 a0007c0008t0001g0347 a0007c0008t0001g0348 a0007c0008t0002g0132 a0007c0008t0003g0322 a0012c0015t0001g0277 a0012c0015t0002g0235	64	388	0.1650	-16	c.355 others(31): Show c.355+426_355+441delCTTCTTTCTTTCTTTC	ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
ELSPBP1_chr19_47989632_48030154	48016515	TCTTTCTT others(9): Show TCTTTCTTTCTTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00741.hp2 HG01106.hp2 others(2): Show HG00099.hp1 HG00741.hp2 HG01106.hp2 HG01358.hp1 HG02132.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0083 a0002c0002t0001g0346 a0002c0002t0001g0355 others(2): Show a0002c0002t0001g0083 a0002c0002t0001g0346 a0002c0002t0001g0355 a0002c0002t0002g0155 a0002c0002t0002g0209	5	388	0.0129	-16	c.355 others(31): Show c.355+480_355+495delTCTTTCTTTCTTCCTT	ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
ELSPBP1_chr19_47989632_48030154	48016519	TCTTTCTT others(9): Show TCTTTCTTTCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01099.hp2 HG01109.hp2 others(3): Show HG00738.hp1 HG01099.hp2 HG01109.hp2 NA18985.hp2 NA19030.hp1 NA19030.hp2	a0001 a0002 a0014 a0001 a0002 a0014	a0001c0001 a0002c0002 a0014c0017 a0001c0001 a0002c0002 a0014c0017	a0001c0001t0001 a0002c0002t0001 a0014c0017t0004 a0001c0001t0001 a0002c0002t0001 a0014c0017t0004	a0001c0001t0001g0019 a0001c0001t0001g0274 a0001c0001t0001g0289 others(3): Show a0001c0001t0001g0019 a0001c0001t0001g0274 a0001c0001t0001g0289 a0001c0001t0001g0319 a0002c0002t0001g0340 a0014c0017t0004g0124	6	388	0.0155	-16	c.355 others(31): Show c.355+484_355+499delTCTTTCTTCCTTCCTT	ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
ELSPBP1_chr19_47989632_48030154	48016523	TCTTTCTT others(9): Show TCTTTCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0266	1	388	0.0026	-16	c.355 others(31): Show c.355+488_355+503delTCTTCCTTCCTTCCTT	ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
ELSPBP1_chr19_47989632_48030154	48016554	TCCTTCCT others(9): Show TCCTTCCTTCCTTCCTC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG03491.hp2 NA18992.hp1 HG01167.hp1 HG03491.hp2 NA18992.hp1	a0003 a0006 a0003 a0006	a0003c0003 a0006c0014 a0003c0003 a0006c0014	a0003c0003t0002 a0006c0014t0002 a0003c0003t0002 a0006c0014t0002	a0003c0003t0002g0152 a0003c0003t0002g0236 a0006c0014t0002g0136 a0003c0003t0002g0152 a0003c0003t0002g0236 a0006c0014t0002g0136	3	388	0.0077	-16	c.355 others(31): Show c.355+521_355+536delCTTCCTTCCTCCCTTC	ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
ELSPBP1_chr19_47989632_48030154	48023289	AAAGGAAG others(9): Show AAAGGAAGGAAGGAGAG	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01358.hp2 HG02109.hp1 others(20): Show HG01106.hp1 HG01358.hp2 HG02109.hp1 HG02165.hp1 HG02486.hp2 HG02572.hp1 HG02647.hp1 HG02896.hp2 HG03471.hp1 HG03490.hp1 NA18942.hp1 NA18943.hp1 NA18947.hp1 NA18952.hp1 NA18978.hp2 NA18979.hp1 NA18988.hp2 NA19000.hp2 NA19012.hp1 NA19074.hp2 NA19084.hp1 NA20129.hp2 NA20805.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0004c0004t0002 a0001c0001t0001 a0004c0004t0001 a0004c0004t0002	a0001c0001t0001g0030 a0001c0001t0001g0264 a0004c0004t0001g0036 others(20): Show a0001c0001t0001g0030 a0001c0001t0001g0264 a0004c0004t0001g0036 a0004c0004t0001g0039 a0004c0004t0001g0041 a0004c0004t0001g0045 a0004c0004t0001g0058 a0004c0004t0001g0077 a0004c0004t0001g0094 a0004c0004t0001g0095 a0004c0004t0001g0117 a0004c0004t0001g0271 a0004c0004t0001g0306 a0004c0004t0001g0320 a0004c0004t0001g0343 a0004c0004t0001g0371 a0004c0004t0001g0375 a0004c0004t0001g0376 a0004c0004t0002g0034 a0004c0004t0002g0130 a0004c0004t0002g0184 a0004c0004t0002g0222 a0004c0004t0002g0234	23	388	0.0593	-16	c.7+ others(29): Show c.7+959_*7+974delGAAGGAAGGAGAGAAG	ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
EMC10_chr19_50471507_50495871	50472194	GTGTGCAT others(9): Show GTGTGCATGTATATACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0027 a0001c0002t0027	a0001c0002t0027g0011 a0001c0002t0027g0011	1	352	0.0028	-16	c.-43 others(27): Show c.-4350_-4335delTGTGCATGTATATACA	EMC10	ENSG00000161671.17	transcript	ENST00000334976.11	protein_coding		4312		chr19	TogoVar
EMC10_chr19_50471507_50495871	50492039	GGAGAGAG others(9): Show GGAGAGAGAGAGAGAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0170 a0001c0001t0170	a0001c0001t0170g0046 a0001c0001t0170g0046	1	352	0.0028	-16	c.97 others(27): Show c.9781_*9796delGAGAGAGAGAGAGAGA	EMC10	ENSG00000161671.17	transcript	ENST00000334976.11	protein_coding		1169		chr19	TogoVar
EMC2_chr8_108438624_108494196	108457331	CGTGTGTG others(9): Show CGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG03688.hp1 NA19058.hp1 NA20752.hp2 HG03688.hp1 NA19058.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0019 a0001c0001t0002 a0001c0001t0019	a0001c0001t0002g0107 a0001c0001t0019g0029 a0001c0001t0002g0107 a0001c0001t0019g0029	3	364	0.0082	-16	c.363 others(33): Show c.363+1428_363+1443delGTGTGTGTGTGTGTGT	EMC2	ENSG00000104412.8	transcript	ENST00000220853.8	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
EMCN_chr4_100390341_100523022	100403447	ATGGGCAT others(9): Show ATGGGCATCTAGGTTGG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00597.hp2 others(78): Show HG00408.hp1 HG00408.hp2 HG00597.hp2 HG01069.hp1 HG01071.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01169.hp1 HG01192.hp2 HG01255.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01934.hp2 HG01943.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02129.hp2 HG02132.hp2 HG02148.hp2 HG02300.hp1 HG02451.hp1 HG02602.hp1 HG02630.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02809.hp1 HG03017.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp1 HG03704.hp1 HG03831.hp2 HG04115.hp2 NA18747.hp1 NA18943.hp1 NA18943.hp2 NA18946.hp1 NA18946.hp2 NA18955.hp2 NA18973.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18984.hp1 NA19001.hp2 NA19007.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19056.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19088.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0023 a0002c0002t0001 others(8): Show a0001c0001t0001 a0001c0001t0023 a0002c0002t0001 a0002c0002t0010 a0002c0002t0014 a0002c0002t0021 a0002c0002t0022 a0002c0002t0024 a0002c0002t0025 a0002c0002t0026 a0002c0002t0031	a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0101 others(77): Show a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0101 a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0023g0005 a0002c0002t0001g0002 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0042 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0084 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0139 a0002c0002t0001g0144 a0002c0002t0001g0146 a0002c0002t0001g0150 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0237 a0002c0002t0010g0089 a0002c0002t0010g0090 a0002c0002t0010g0145 a0002c0002t0010g0148 a0002c0002t0014g0094 a0002c0002t0014g0137 a0002c0002t0021g0061 a0002c0002t0022g0234 a0002c0002t0024g0097 a0002c0002t0025g0057 a0002c0002t0026g0049 a0002c0002t0031g0138	81	262	0.3092	-16	c.40 others(33): Show c.40-5090_*40-5075delCCAACCTAGATGCCCA	EMCN	ENSG00000164035.10	transcript	ENST00000296420.9	protein_coding	11/11			chr4	TogoVar
EMCN_chr4_100390341_100523022	100459168	GCTCTCTC others(9): Show GCTCTCTCTCTCTCTCT	G G	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG03041.hp2 HG03491.hp1 others(4): Show HG02602.hp2 HG03041.hp2 HG03491.hp1 NA19030.hp2 NA19240.hp2 NA20905.hp2 NA21309.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0005c0007t0002	a0001c0001t0002g0228 a0001c0001t0003g0235 a0001c0001t0003g0255 others(4): Show a0001c0001t0002g0228 a0001c0001t0003g0235 a0001c0001t0003g0255 a0001c0001t0004g0250 a0001c0001t0004g0253 a0001c0001t0011g0112 a0005c0007t0002g0209	7	262	0.0267	-16	c.376 others(33): Show c.376+6239_376+6254delAGAGAGAGAGAGAGAG	EMCN	ENSG00000164035.10	transcript	ENST00000296420.9	protein_coding	4/11			chr4	TogoVar
EMCN_chr4_100390341_100523022	100475659	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0210 a0001c0001t0003g0210	1	262	0.0038	-16	c.188 others(31): Show c.188-566_188-551delAAAAAAAAAAAAAAAA	EMCN	ENSG00000164035.10	transcript	ENST00000296420.9	protein_coding	2/11			chr4	TogoVar
EMCN_chr4_100390341_100523022	100476241	CTTTCCTT others(9): Show CTTTCCTTCCTTCCTTT	C C	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0233 a0001c0001t0002g0233	1	262	0.0038	-16	c.188 others(33): Show c.188-1148_188-1133delAAAGGAAGGAAGGAAA	EMCN	ENSG00000164035.10	transcript	ENST00000296420.9	protein_coding	2/11			chr4	TogoVar
EMID1_chr22_29200896_29264597	29202908	CGCTTAGC others(9): Show CGCTTAGCACAGCGCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02647.hp1 HG02717.hp2 others(3): Show HG02109.hp2 HG02647.hp1 HG02717.hp2 HG03098.hp2 HG03225.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0001 a0001c0002t0004g0024 a0001c0002t0004g0025 others(2): Show a0001c0002t0004g0001 a0001c0002t0004g0024 a0001c0002t0004g0025 a0001c0002t0004g0026 a0001c0002t0004g0027	6	348	0.0172	-16	c.-31 others(27): Show c.-3130_-3115delGCTTAGCACAGCGCCT	EMID1	ENSG00000186998.16	transcript	ENST00000334018.11	protein_coding		2987		chr22	TogoVar
EMID1_chr22_29200896_29264597	29221066	CGTGTGTG others(9): Show CGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02630.hp1 HG02717.hp1 others(8): Show HG01884.hp2 HG02630.hp1 HG02717.hp1 HG02723.hp1 HG02818.hp1 HG02896.hp2 HG03139.hp1 HG03209.hp2 HG03453.hp2 NA18953.hp2 NA19240.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0002 a0003c0003 a0006c0007 a0001c0002 a0003c0003 a0006c0007	a0001c0002t0001 a0001c0002t0002 a0003c0003t0003 others(1): Show a0001c0002t0001 a0001c0002t0002 a0003c0003t0003 a0006c0007t0003	a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0188 others(8): Show a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0002g0038 a0001c0002t0002g0191 a0001c0002t0002g0192 a0001c0002t0002g0290 a0003c0003t0003g0208 a0006c0007t0003g0187	11	348	0.0316	-16	c.320 others(33): Show c.320-4024_320-4009delGTGTGTGTGTGTGTGT	EMID1	ENSG00000186998.16	transcript	ENST00000334018.11	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
EMID1_chr22_29200896_29264597	29250733	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG03209.hp1 NA18954.hp2 HG02015.hp1 HG03209.hp1 NA18954.hp2	a0002 a0003 a0002 a0003	a0002c0001 a0003c0003 a0002c0001 a0003c0003	a0002c0001t0001 a0003c0003t0003 a0002c0001t0001 a0003c0003t0003	a0002c0001t0001g0294 a0003c0003t0003g0058 a0003c0003t0003g0260 a0002c0001t0001g0294 a0003c0003t0003g0058 a0003c0003t0003g0260	3	348	0.0086	-16	c.112 others(35): Show c.1120-3450_1120-3435delTTTTTTTTTTTTTTTT	EMID1	ENSG00000186998.16	transcript	ENST00000334018.11	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
EMILIN2_chr18_2842006_2921003	2858522	CATATATA others(9): Show CATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03209.hp1 HG02572.hp2 HG03209.hp1	a0001 a0005 a0001 a0005	a0001c0014 a0005c0036 a0001c0014 a0005c0036	a0001c0014t0004 a0005c0036t0004 a0001c0014t0004 a0005c0036t0004	a0001c0014t0004g0047 a0005c0036t0004g0046 a0001c0014t0004g0047 a0005c0036t0004g0046	2	452	0.0044	-16	c.257 others(35): Show c.257+10624_257+10639delATATATATATATATAT	EMILIN2	ENSG00000132205.11	transcript	ENST00000254528.4	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
EMILIN2_chr18_2842006_2921003	2858555	ATATATAT others(9): Show ATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02886.hp2 HG01943.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0002 a0001c0008t0003 a0001c0001t0002 a0001c0008t0003	a0001c0001t0002g0255 a0001c0008t0003g0226 a0001c0001t0002g0255 a0001c0008t0003g0226	2	452	0.0044	-16	c.257 others(35): Show c.257+10626_257+10641delATATATATATATATGT	EMILIN2	ENSG00000132205.11	transcript	ENST00000254528.4	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
EML1_chr14_99788413_99947060	99796186	CAGAGAGA others(9): Show CAGAGAGAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02109.hp2 HG01109.hp2 HG02109.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0232 a0001c0003t0001g0233 a0001c0003t0001g0232 a0001c0003t0001g0233	2	288	0.0069	-16	c.67+ others(31): Show c.67+2673_67+2688delGAGAGAGAGAGAGAGA	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EML1_chr14_99788413_99947060	99919409	CATACGCA others(9): Show CATACGCATGCACACAG	C C	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0130 a0003c0002t0001g0130	1	288	0.0035	-16	c.182 others(35): Show c.1821-1378_1821-1363delTACGCATGCACACAGA	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EML1_chr14_99788413_99947060	99923735	ATAGTGTT others(9): Show ATAGTGTTGGCTATTTT	A A	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0176 a0002c0001t0002g0176	1	288	0.0035	-16	c.190 others(35): Show c.1909+2859_1909+2874delTAGTGTTGGCTATTTT	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21			chr14	TogoVar
EML3_chr11_62597218_62617775	62611721	TGAATGCT others(9): Show TGAATGCTCGTCCAGAG	T T	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	312	0.0032	-16	c.23- others(29): Show c.23-141_23-126delCTCTGGACGAGCATTC	EML3	ENSG00000149499.12	transcript	ENST00000394773.7	protein_coding	1/21			chr11	TogoVar
EML4_chr2_42164353_42337548	42325596	TTATATTT others(9): Show TTATATTTATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0183 a0001c0001t0003g0183	1	358	0.0028	-16	c.224 others(31): Show c.2242+48_2242+63delTTATATATATATATAT	EML4	ENSG00000143924.19	transcript	ENST00000318522.10	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML4_chr2_42164353_42337548	42325602	TTATATAT others(9): Show TTATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02055.hp1 HG02572.hp1 others(10): Show HG01074.hp2 HG02055.hp1 HG02572.hp1 HG02615.hp1 HG02723.hp2 HG02965.hp1 HG02970.hp2 HG03130.hp2 HG03486.hp1 HG03710.hp1 HG03831.hp1 NA18906.hp2 NA19240.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0005 a0001c0012 others(2): Show a0001c0001 a0001c0005 a0001c0012 a0003c0003 a0007c0008	a0001c0001t0005 a0001c0001t0006 a0001c0001t0018 others(5): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0018 a0001c0001t0024 a0001c0005t0003 a0001c0012t0003 a0003c0003t0004 a0007c0008t0003	a0001c0001t0005g0320 a0001c0001t0005g0321 a0001c0001t0005g0340 others(10): Show a0001c0001t0005g0320 a0001c0001t0005g0321 a0001c0001t0005g0340 a0001c0001t0006g0310 a0001c0001t0006g0343 a0001c0001t0006g0347 a0001c0001t0018g0174 a0001c0001t0024g0002 a0001c0005t0003g0341 a0001c0005t0003g0342 a0001c0012t0003g0339 a0003c0003t0004g0308 a0007c0008t0003g0338	13	358	0.0363	-16	c.224 others(31): Show c.2242+70_2242+85delATATATATATATATAT	EML4	ENSG00000143924.19	transcript	ENST00000318522.10	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML5_chr14_88607431_88797953	88796212	ATATATAT others(9): Show ATATATATATTATATGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00423.hp2 others(72): Show HG00280.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00741.hp1 HG01069.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01175.hp1 HG01257.hp2 HG01261.hp2 HG01516.hp2 HG01517.hp2 HG01928.hp1 HG01934.hp2 HG01952.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp2 HG02055.hp1 HG02132.hp2 HG02165.hp2 HG02258.hp1 HG02572.hp2 HG02602.hp2 HG02630.hp1 HG02735.hp1 HG02895.hp2 HG02897.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03139.hp1 HG03225.hp1 HG03486.hp2 HG03654.hp1 HG03710.hp1 HG03831.hp2 HG04115.hp1 HG06807.hp1 NA18939.hp1 NA18943.hp2 NA18944.hp1 NA18947.hp1 NA18951.hp1 NA18952.hp2 NA18957.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp1 NA18968.hp2 NA18970.hp1 NA18971.hp1 NA18973.hp2 NA18974.hp2 NA18982.hp1 NA18986.hp2 NA18987.hp2 NA18994.hp1 NA19000.hp1 NA19006.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19081.hp1 NA19084.hp1 NA19086.hp2 NA19087.hp1 NA20300.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0002 a0008c0011 a0001c0001 a0002c0002 a0008c0011	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0029 a0002c0002t0003 a0008c0011t0008	a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0086 others(70): Show a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0167 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0001t0006g0202 a0001c0001t0007g0134 a0001c0001t0008g0099 a0001c0001t0008g0100 a0001c0001t0008g0102 a0001c0001t0008g0103 a0001c0001t0008g0104 a0001c0001t0029g0157 a0002c0002t0003g0093 a0008c0011t0008g0101	75	332	0.2259	-16	c.-37 others(27): Show c.-3725_-3710delACATATAATATATATA	EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding		3260		chr14	TogoVar
EML5_chr14_88607431_88797953	88796383	ATATATAT others(9): Show ATATATATATTATATGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0285 a0001c0001t0006g0285	1	332	0.0030	-16	c.-38 others(27): Show c.-3896_-3881delACATATAATATATATA	EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding		3431		chr14	TogoVar
EML6_chr2_54718662_54977025	54744905	TACACACA others(9): Show TACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp2 HG01255.hp1 others(11): Show HG01167.hp1 HG01167.hp2 HG01255.hp1 HG01943.hp1 HG01975.hp2 HG01978.hp2 HG02451.hp2 HG02486.hp2 HG02615.hp2 HG02965.hp1 HG06807.hp1 HG06807.hp2 NA18953.hp1 NA18995.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0018 a0005c0031	a0001c0001t0019 a0001c0002t0004 a0001c0002t0006 others(6): Show a0001c0001t0019 a0001c0002t0004 a0001c0002t0006 a0001c0002t0010 a0001c0002t0013 a0001c0003t0054 a0001c0005t0024 a0001c0018t0001 a0005c0031t0053	a0001c0001t0019g0167 a0001c0001t0019g0168 a0001c0001t0019g0169 others(11): Show a0001c0001t0019g0167 a0001c0001t0019g0168 a0001c0001t0019g0169 a0001c0002t0004g0066 a0001c0002t0004g0075 a0001c0002t0006g0077 a0001c0002t0010g0054 a0001c0002t0013g0022 a0001c0002t0013g0023 a0001c0002t0013g0024 a0001c0003t0054g0166 a0001c0005t0024g0050 a0001c0018t0001g0053 a0005c0031t0053g0165	14	264	0.0530	-16	c.197 others(35): Show c.197+19690_197+19705delACACACACACACACAC	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54905321	GACACACA others(9): Show GACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG03688.hp2 NA19043.hp1 NA20300.hp1 HG03688.hp2 NA19043.hp1 NA20300.hp1	a0001 a0001	a0001c0005 a0001c0015 a0001c0034 a0001c0005 a0001c0015 a0001c0034	a0001c0005t0001 a0001c0015t0001 a0001c0034t0047 a0001c0005t0001 a0001c0015t0001 a0001c0034t0047	a0001c0005t0001g0221 a0001c0015t0001g0030 a0001c0034t0047g0032 a0001c0005t0001g0221 a0001c0015t0001g0030 a0001c0034t0047g0032	3	264	0.0114	-16	c.340 others(35): Show c.3409+1861_3409+1876delCACACACACACACACA	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	24/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54907900	TTAGATAG others(9): Show TTAGATAGATAGATAGA	T T	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01978.hp1 HG02257.hp1 others(1): Show HG01516.hp1 HG01978.hp1 HG02257.hp1 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0007 a0001c0003t0002 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0003t0002 a0001c0003t0009	a0001c0001t0001g0147 a0001c0001t0007g0026 a0001c0003t0002g0158 others(1): Show a0001c0001t0001g0147 a0001c0001t0007g0026 a0001c0003t0002g0158 a0001c0003t0009g0100	4	264	0.0152	-16	c.341 others(35): Show c.3410-3023_3410-3008delGATAGATAGATAGATA	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	24/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54907934	AGATAGAT others(9): Show AGATAGATAGATAAGAT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01081.hp2 HG03540.hp2 others(2): Show HG00558.hp2 HG01081.hp2 HG03540.hp2 NA18948.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0011 a0001c0025	a0001c0001t0003 a0001c0002t0004 a0001c0004t0007 others(2): Show a0001c0001t0003 a0001c0002t0004 a0001c0004t0007 a0001c0011t0012 a0001c0025t0004	a0001c0001t0003g0137 a0001c0002t0004g0066 a0001c0004t0007g0185 others(2): Show a0001c0001t0003g0137 a0001c0002t0004g0066 a0001c0004t0007g0185 a0001c0011t0012g0011 a0001c0025t0004g0064	5	264	0.0189	-16	c.341 others(35): Show c.3410-3019_3410-3004delGATAGATAGATAAGAT	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	24/41			chr2	TogoVar
EML6_chr2_54718662_54977025	54907938	AGATAGAT others(9): Show AGATAGATAAGATAGAT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 NA18951.hp1 NA18957.hp2 others(1): Show HG02572.hp2 NA18951.hp1 NA18957.hp2 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007	a0001c0001t0001 a0001c0002t0011 a0001c0004t0007 others(1): Show a0001c0001t0001 a0001c0002t0011 a0001c0004t0007 a0001c0007t0052	a0001c0001t0001g0187 a0001c0002t0011g0108 a0001c0004t0007g0046 others(1): Show a0001c0001t0001g0187 a0001c0002t0011g0108 a0001c0004t0007g0046 a0001c0007t0052g0001	4	264	0.0152	-16	c.341 others(35): Show c.3410-3015_3410-3000delGATAGATAAGATAGAT	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	24/41			chr2	TogoVar
EML6_chr2_54718662_54977025	54907942	AGATAAGA others(9): Show AGATAAGATAGATAGAT	A A	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02970.hp1 HG02135.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0023 a0001c0001 a0001c0023	a0001c0001t0003 a0001c0023t0026 a0001c0001t0003 a0001c0023t0026	a0001c0001t0003g0105 a0001c0023t0026g0171 a0001c0001t0003g0105 a0001c0023t0026g0171	2	264	0.0076	-16	c.341 others(35): Show c.3410-3011_3410-2996delGATAAGATAGATAGAT	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	24/41			chr2	TogoVar
EMP2_chr16_10523422_10585598	10531748	GATGAATG others(9): Show GATGAATGAATGAATGA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00423.hp2 HG00609.hp1 HG00673.hp2 others(6): Show HG00423.hp2 HG00609.hp1 HG00673.hp2 HG02135.hp1 HG02523.hp2 NA18612.hp2 NA18960.hp2 NA18983.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0042 a0001c0001t0064 others(2): Show a0001c0001t0018 a0001c0001t0042 a0001c0001t0064 a0001c0001t0068 a0001c0001t0096	a0001c0001t0018g0041 a0001c0001t0018g0074 a0001c0001t0018g0342 others(6): Show a0001c0001t0018g0041 a0001c0001t0018g0074 a0001c0001t0018g0342 a0001c0001t0018g0343 a0001c0001t0042g0071 a0001c0001t0042g0192 a0001c0001t0064g0297 a0001c0001t0068g0286 a0001c0001t0096g0029	9	402	0.0224	-16	c.11 others(27): Show c.1141_*1156delTCATTCATTCATTCAT	EMP2	ENSG00000213853.10	transcript	ENST00000359543.8	protein_coding	5/5	1141		chr16	TogoVar
EMP2_chr16_10523422_10585598	10575237	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01433.hp2 HG01884.hp1 others(25): Show HG01243.hp2 HG01433.hp2 HG01884.hp1 HG01884.hp2 HG02056.hp1 HG02258.hp2 HG02280.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG03041.hp2 HG03195.hp1 HG03195.hp2 HG03453.hp1 HG03540.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003	a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 others(14): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 a0001c0001t0015 a0001c0001t0028 a0001c0001t0040 a0001c0001t0057 a0001c0001t0099 a0001c0001t0115 a0001c0001t0121 a0001c0002t0002 a0001c0002t0011 a0001c0002t0017 a0001c0002t0021 a0001c0002t0095 a0001c0006t0108 a0002c0003t0010	a0001c0001t0003g0397 a0001c0001t0007g0002 a0001c0001t0007g0007 others(23): Show a0001c0001t0003g0397 a0001c0001t0007g0002 a0001c0001t0007g0007 a0001c0001t0007g0013 a0001c0001t0007g0015 a0001c0001t0007g0212 a0001c0001t0010g0010 a0001c0001t0015g0004 a0001c0001t0028g0268 a0001c0001t0040g0359 a0001c0001t0057g0012 a0001c0001t0099g0374 a0001c0001t0115g0008 a0001c0001t0121g0016 a0001c0002t0002g0206 a0001c0002t0011g0001 a0001c0002t0011g0011 a0001c0002t0011g0019 a0001c0002t0011g0207 a0001c0002t0017g0009 a0001c0002t0017g0020 a0001c0002t0017g0213 a0001c0002t0021g0017 a0001c0002t0095g0018 a0001c0006t0108g0014 a0002c0003t0010g0003	28	402	0.0697	-16	c.-61 others(33): Show c.-61+5296_-61+5311delAAAAAAAAAAAAAAAA	EMP2	ENSG00000213853.10	transcript	ENST00000359543.8	protein_coding	1/4			chr16	TogoVar
EMP2_chr16_10523422_10585598	10581967	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG02486.hp1 HG02630.hp1 others(1): Show HG01433.hp2 HG02486.hp1 HG02630.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0002t0002 a0001c0002t0011 others(1): Show a0001c0001t0007 a0001c0002t0002 a0001c0002t0011 a0001c0002t0017	a0001c0001t0007g0212 a0001c0002t0002g0206 a0001c0002t0011g0207 others(1): Show a0001c0001t0007g0212 a0001c0002t0002g0206 a0001c0002t0011g0207 a0001c0002t0017g0213	4	402	0.0100	-16	c.-14 others(27): Show c.-1495_-1480delCACACACACACACACA	EMP2	ENSG00000213853.10	transcript	ENST00000359543.8	protein_coding		1370		chr16	TogoVar
EMP3_chr19_48320552_48335553	48334416	CTCTTTCT others(9): Show CTCTTTCTTTCTTTCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG00738.hp1 HG01167.hp2 others(16): Show HG00735.hp2 HG00738.hp1 HG01167.hp2 HG01943.hp2 HG02015.hp2 HG02145.hp1 HG02280.hp1 HG04115.hp1 NA18950.hp1 NA18952.hp1 NA18955.hp1 NA18997.hp1 NA19002.hp2 NA19007.hp1 NA19011.hp1 NA19012.hp2 NA19056.hp2 NA19090.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0029 a0001c0001t0001g0043 a0001c0001t0003g0015 a0001c0001t0004g0004 a0001c0001t0004g0022	19	376	0.0505	-16	c.39 others(27): Show c.3947_*3962delTCTTTCTTTCTTTCTT	EMP3	ENSG00000142227.11	transcript	ENST00000270221.11	protein_coding		3864		chr19	TogoVar
EMSY_chr11_76440018_76558031	76494649	CCCTTCCT others(9): Show CCCTTCCTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01123.hp2 HG01168.hp1 others(45): Show HG01106.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01346.hp2 HG01358.hp2 HG01496.hp2 HG02004.hp2 HG02273.hp1 HG02300.hp2 HG02486.hp2 HG02630.hp2 HG03195.hp2 HG03225.hp1 HG03491.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp2 NA18906.hp2 NA18942.hp2 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18960.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18970.hp2 NA18979.hp2 NA18993.hp2 NA18997.hp1 NA19004.hp2 NA19005.hp2 NA19006.hp1 NA19010.hp1 NA19068.hp1 NA19068.hp2 NA19077.hp1 NA19077.hp2 NA19083.hp1 NA19085.hp1 NA19240.hp1 NA20805.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0025	a0001c0001t0001g0322 a0001c0001t0001g0324 a0001c0001t0001g0325 others(45): Show a0001c0001t0001g0322 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0328 a0001c0001t0001g0332 a0001c0001t0001g0334 a0001c0001t0001g0346 a0001c0001t0002g0092 a0001c0001t0002g0106 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0117 a0001c0001t0002g0119 a0001c0001t0002g0125 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0139 a0001c0001t0002g0143 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0168 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0245 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0270 a0001c0001t0002g0278 a0001c0001t0002g0281 a0001c0001t0004g0096 a0001c0001t0004g0099 a0001c0001t0004g0100 a0001c0001t0004g0102 a0001c0001t0004g0103 a0001c0001t0007g0124 a0001c0001t0007g0126 a0001c0001t0007g0130 a0001c0001t0025g0355	48	360	0.1333	-16	c.115 others(35): Show c.1154-1493_1154-1478delCCTTCCTTCCTTCCTT	EMSY	ENSG00000158636.17	transcript	ENST00000695367.1	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
EMSY_chr11_76440018_76558031	76536133	TTATTATT others(9): Show TTATTATTTATTATTAC	T T	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18957.hp1 NA19076.hp1 NA18942.hp1 NA18957.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0298 a0001c0001t0001g0301 a0001c0001t0001g0312 a0001c0001t0001g0298 a0001c0001t0001g0301 a0001c0001t0001g0312	3	360	0.0083	-16	c.240 others(32): Show c.2404+90_2404+105delCTATTATTTATTATTA	EMSY	ENSG00000158636.17	transcript	ENST00000695367.1	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
ENAH_chr1_225481829_225658123	225492943	GTCTCCTC others(9): Show GTCTCCTCACCAAAAGA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0147 a0001c0001t0063g0147	1	308	0.0033	-16	c.48 others(27): Show c.4816_*4831delTCTTTTGGTGAGGAGA	ENAH	ENSG00000154380.19	transcript	ENST00000366843.7	protein_coding	14/14	4816		chr1	TogoVar
ENAH_chr1_225481829_225658123	225509061	AATTCCTT others(9): Show AATTCCTTCTTTTTTAT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0079 a0001c0001t0079	a0001c0001t0079g0013 a0001c0001t0079g0013	1	308	0.0033	-16	c.147 others(35): Show c.1472-1060_1472-1045delATAAAAAAGAAGGAAT	ENAH	ENSG00000154380.19	transcript	ENST00000366843.7	protein_coding	10/13			chr1	TogoVar
ENAH_chr1_225481829_225658123	225520922	AAGGGAGG others(9): Show AAGGGAGGGAGGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01167.hp2 HG01175.hp2 others(32): Show HG01109.hp2 HG01167.hp2 HG01175.hp2 HG01261.hp2 HG01361.hp1 HG01884.hp2 HG02027.hp2 HG02109.hp1 HG02258.hp2 HG02451.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp2 HG02886.hp2 HG02922.hp2 HG02965.hp1 HG03017.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03486.hp2 HG03579.hp1 HG03579.hp2 HG03834.hp1 HG04115.hp2 HG04204.hp2 NA18522.hp1 NA18943.hp2 NA18959.hp2 NA18973.hp2 NA18983.hp1 NA19011.hp2 NA19056.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0002c0006	a0001c0001t0005 a0001c0001t0010 a0001c0001t0015 others(20): Show a0001c0001t0005 a0001c0001t0010 a0001c0001t0015 a0001c0001t0028 a0001c0001t0036 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0050 a0001c0001t0067 a0001c0001t0077 a0001c0001t0079 a0001c0001t0089 a0001c0001t0104 a0001c0001t0106 a0001c0003t0014 a0001c0003t0029 a0001c0003t0107 a0001c0003t0110 a0001c0003t0111 a0002c0002t0028 a0002c0006t0108 a0002c0006t0109	a0001c0001t0005g0299 a0001c0001t0010g0162 a0001c0001t0010g0163 others(32): Show a0001c0001t0005g0299 a0001c0001t0010g0162 a0001c0001t0010g0163 a0001c0001t0010g0164 a0001c0001t0010g0233 a0001c0001t0010g0234 a0001c0001t0015g0002 a0001c0001t0015g0003 a0001c0001t0015g0004 a0001c0001t0015g0007 a0001c0001t0028g0067 a0001c0001t0028g0068 a0001c0001t0036g0089 a0001c0001t0042g0001 a0001c0001t0043g0006 a0001c0001t0044g0005 a0001c0001t0050g0212 a0001c0001t0067g0109 a0001c0001t0077g0084 a0001c0001t0079g0013 a0001c0001t0089g0151 a0001c0001t0104g0161 a0001c0001t0106g0150 a0001c0003t0014g0022 a0001c0003t0014g0049 a0001c0003t0014g0050 a0001c0003t0029g0051 a0001c0003t0029g0052 a0001c0003t0029g0054 a0001c0003t0107g0023 a0001c0003t0110g0058 a0001c0003t0111g0053 a0002c0002t0028g0066 a0002c0006t0108g0020 a0002c0006t0109g0024	35	308	0.1136	-16	c.435 others(33): Show c.435-1373_435-1358delCCCTCCCTCCCTCCCT	ENAH	ENSG00000154380.19	transcript	ENST00000366843.7	protein_coding	4/13			chr1	TogoVar
ENAH_chr1_225481829_225658123	225539760	ACCTTTCC others(9): Show ACCTTTCCTCTGCAGAG	A A	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02258.hp2 HG02451.hp2 others(5): Show HG01261.hp2 HG02258.hp2 HG02451.hp2 HG02615.hp2 HG02922.hp1 HG02965.hp1 HG03195.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0036 a0001c0001t0043 others(1): Show a0001c0001t0015 a0001c0001t0036 a0001c0001t0043 a0001c0001t0044	a0001c0001t0015g0002 a0001c0001t0015g0003 a0001c0001t0015g0004 others(5): Show a0001c0001t0015g0002 a0001c0001t0015g0003 a0001c0001t0015g0004 a0001c0001t0015g0007 a0001c0001t0036g0089 a0001c0001t0036g0282 a0001c0001t0043g0006 a0001c0001t0044g0005	8	308	0.0260	-16	c.350 others(33): Show c.350-9138_350-9123delCTCTGCAGAGGAAAGG	ENAH	ENSG00000154380.19	transcript	ENST00000366843.7	protein_coding	3/13			chr1	TogoVar
ENAH_chr1_225481829_225658123	225562571	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0080 a0001c0001t0080	a0001c0001t0080g0083 a0001c0001t0080g0083	1	308	0.0033	-16	c.171 others(33): Show c.171+4662_171+4677delTTTTTTTTTTTTTTTT	ENAH	ENSG00000154380.19	transcript	ENST00000366843.7	protein_coding	2/13			chr1	TogoVar
ENAH_chr1_225481829_225658123	225590082	AACACACA others(9): Show AACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0109 a0002c0006t0109	a0002c0006t0109g0024 a0002c0006t0109g0024	1	308	0.0033	-16	c.6-2 others(31): Show c.6-22684_6-22669delGTGTGTGTGTGTGTGT	ENAH	ENSG00000154380.19	transcript	ENST00000366843.7	protein_coding	1/13			chr1	TogoVar

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