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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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
ELAPOR1_chr1_109109115_109211781	109113413	A A	AGAGAGAG others(33): Show AGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0007 a0005c0012t0007	a0005c0012t0007g0091 a0005c0012t0007g0091	1	230	0.0044	40	c.-77 others(49): Show c.-771_-770insGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGG GAGG	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding		701		chr1	TogoVar
ELAPOR1_chr1_109109115_109211781	109113417	A A	AGAGAGAG others(33): Show AGAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0011 a0002c0003t0011	a0002c0003t0011g0090 a0002c0003t0011g0090	1	230	0.0044	40	c.-76 others(49): Show c.-767_-766insGAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGG GAGG	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding		697		chr1	TogoVar
ELAPOR1_chr1_109109115_109211781	109177346	G G	GGCTGCCG others(33): Show GGCTGCCGGGCAGAGACGCTCCTCACTTCCCAGACGGGGCA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG04115.hp1 HG03491.hp1 HG03492.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206	3	230	0.0130	40	c.952 others(57): Show c.952+3519_952+3520insAGAGACGCTCCTCACTTCCCAGACGGGG CAGCTGCCGGGC	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELAPOR1_chr1_109109115_109211781	109177514	G G	GCGCTCCT others(33): Show GCGCTCCTCACTTCCTAGATGGGATGGCGGCCGGGCAGAGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(134): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00438.hp1 HG00438.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01255.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01934.hp1 HG01993.hp2 HG02015.hp1 HG02071.hp2 HG02083.hp2 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03209.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04115.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp2 NA18948.hp1 NA18948.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp2 NA18977.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18986.hp1 NA18989.hp1 NA18989.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19058.hp2 NA19060.hp1 NA19063.hp2 NA19074.hp1 NA19074.hp2 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19090.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0007 a0008	a0001c0001 a0001c0002 a0001c0013 others(25): Show a0001c0001 a0001c0002 a0001c0013 a0001c0019 a0001c0024 a0001c0025 a0001c0038 a0002c0003 a0002c0005 a0002c0006 a0002c0009 a0002c0010 a0002c0014 a0002c0015 a0002c0017 a0002c0020 a0002c0027 a0002c0028 a0002c0037 a0003c0004 a0003c0007 a0003c0026 a0003c0031 a0003c0034 a0004c0008 a0004c0011 a0007c0036 a0008c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(50): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0013 a0001c0001t0014 a0001c0001t0020 a0001c0001t0021 a0001c0001t0036 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0010 a0001c0002t0013 a0001c0002t0014 a0001c0002t0015 a0001c0002t0035 a0001c0002t0038 a0001c0013t0001 a0001c0013t0031 a0001c0019t0003 a0001c0024t0001 a0001c0025t0037 a0001c0038t0015 a0002c0003t0003 a0002c0003t0011 a0002c0003t0023 a0002c0003t0039 a0002c0005t0006 a0002c0005t0016 a0002c0005t0025 a0002c0006t0001 a0002c0006t0008 a0002c0009t0003 a0002c0010t0008 a0002c0014t0012 a0002c0015t0017 a0002c0017t0012 a0002c0020t0006 a0002c0027t0030 a0002c0028t0001 a0002c0037t0027 a0003c0004t0004 a0003c0007t0004 a0003c0026t0004 a0003c0031t0004 a0003c0034t0032 a0004c0008t0009 a0004c0008t0041 a0004c0011t0009 a0004c0011t0040 a0007c0036t0003 a0008c0023t0034	a0001c0001t0001g0006 a0001c0001t0001g0020 a0001c0001t0001g0023 others(134): Show a0001c0001t0001g0006 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0042 a0001c0001t0001g0056 a0001c0001t0001g0073 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0229 a0001c0001t0002g0040 a0001c0001t0003g0030 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0041 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0046 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0118 a0001c0001t0003g0120 a0001c0001t0005g0013 a0001c0001t0005g0057 a0001c0001t0013g0103 a0001c0001t0014g0203 a0001c0001t0020g0117 a0001c0001t0020g0128 a0001c0001t0021g0099 a0001c0001t0021g0107 a0001c0001t0036g0063 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0152 a0001c0002t0001g0158 a0001c0002t0001g0176 a0001c0002t0001g0181 a0001c0002t0001g0195 a0001c0002t0001g0199 a0001c0002t0001g0215 a0001c0002t0001g0220 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0228 a0001c0002t0003g0139 a0001c0002t0003g0145 a0001c0002t0003g0153 a0001c0002t0003g0167 a0001c0002t0003g0182 a0001c0002t0003g0196 a0001c0002t0003g0201 a0001c0002t0005g0190 a0001c0002t0010g0211 a0001c0002t0013g0219 a0001c0002t0014g0159 a0001c0002t0015g0218 a0001c0002t0035g0161 a0001c0002t0038g0144 a0001c0013t0001g0105 a0001c0013t0001g0106 a0001c0013t0031g0069 a0001c0019t0003g0179 a0001c0024t0001g0096 a0001c0025t0037g0102 a0001c0038t0015g0214 a0002c0003t0003g0026 a0002c0003t0003g0079 a0002c0003t0003g0086 a0002c0003t0003g0089 a0002c0003t0011g0097 a0002c0003t0011g0140 a0002c0003t0023g0213 a0002c0003t0039g0112 a0002c0005t0006g0012 a0002c0005t0006g0014 a0002c0005t0006g0015 a0002c0005t0006g0016 a0002c0005t0006g0060 a0002c0005t0006g0061 a0002c0005t0016g0083 a0002c0005t0016g0084 a0002c0005t0025g0011 a0002c0006t0001g0111 a0002c0006t0008g0062 a0002c0009t0003g0147 a0002c0009t0003g0188 a0002c0009t0003g0222 a0002c0010t0008g0002 a0002c0010t0008g0003 a0002c0010t0008g0004 a0002c0010t0008g0005 a0002c0014t0012g0155 a0002c0015t0017g0082 a0002c0015t0017g0113 a0002c0017t0012g0021 a0002c0017t0012g0025 a0002c0020t0006g0154 a0002c0020t0006g0171 a0002c0027t0030g0094 a0002c0028t0001g0072 a0002c0037t0027g0191 a0003c0004t0004g0017 a0003c0004t0004g0022 a0003c0004t0004g0024 a0003c0004t0004g0070 a0003c0004t0004g0075 a0003c0004t0004g0202 a0003c0004t0004g0207 a0003c0007t0004g0146 a0003c0007t0004g0150 a0003c0007t0004g0175 a0003c0007t0004g0186 a0003c0007t0004g0193 a0003c0007t0004g0194 a0003c0026t0004g0077 a0003c0031t0004g0088 a0003c0034t0032g0165 a0004c0008t0009g0065 a0004c0008t0009g0125 a0004c0008t0009g0126 a0004c0008t0009g0129 a0004c0008t0041g0059 a0004c0011t0009g0163 a0004c0011t0040g0173 a0007c0036t0003g0162 a0008c0023t0034g0054	137	230	0.5957	40	c.952 others(57): Show c.952+3691_952+3692insTAGATGGGATGGCGGCCGGGCAGAGACG CTCCTCACTTCC	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELAVL1_chr19_7953573_8010641	7957388	A A	AGAAAGAA others(33): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0177 a0001c0001t0023g0177	1	276	0.0036	40	c.60 others(51): Show c.6094_*6095insCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTC	ELAVL1	ENSG00000066044.15	transcript	ENST00000407627.7	protein_coding		1184		chr19	TogoVar
ELAVL1_chr19_7953573_8010641	7957388	A A	AGAAAGAA others(33): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp2 NA18955.hp2 HG01975.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0175 a0001c0001t0002g0181 a0001c0001t0002g0175 a0001c0001t0002g0181	2	276	0.0073	40	c.60 others(51): Show c.6094_*6095insCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTC	ELAVL1	ENSG00000066044.15	transcript	ENST00000407627.7	protein_coding		1184		chr19	TogoVar
ELAVL1_chr19_7953573_8010641	7957388	A A	AGAAAGAA others(33): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	276	0.0036	40	c.60 others(51): Show c.6094_*6095insCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTT TCTTTC	ELAVL1	ENSG00000066044.15	transcript	ENST00000407627.7	protein_coding		1184		chr19	TogoVar
ELAVL1_chr19_7953573_8010641	7957388	A A	AGAAAGAA others(33): Show AGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp1 NA19065.hp1 HG01516.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0008 a0001c0001t0002g0006 a0001c0001t0001g0008 a0001c0001t0002g0006	2	276	0.0073	40	c.60 others(51): Show c.6094_*6095insCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTT TCTTTC	ELAVL1	ENSG00000066044.15	transcript	ENST00000407627.7	protein_coding		1184		chr19	TogoVar
ELAVL1_chr19_7953573_8010641	7957390	A A	AAAGAAAG others(33): Show AAAGAAAGAAAGAAAGAAAGAAAGAAGGGAGGGAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0236 a0001c0001t0012g0236	1	276	0.0036	40	c.60 others(51): Show c.6092_*6093insCCCTCCCTCCCTCCCTTCTTTCTTTCTTTCTTTC TTTCTT	ELAVL1	ENSG00000066044.15	transcript	ENST00000407627.7	protein_coding		1182		chr19	TogoVar
ELF1_chr13_40926924_41024316	40955840	C C	CCCGCCCC others(33): Show CCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCA	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	362	0.0028	40	c.253 others(57): Show c.253+2995_253+2996insTGGCCGGGCAGAGGCGCCCCTCACCTCC CGGACGGGGCGG	ELF1	ENSG00000120690.16	transcript	ENST00000239882.7	protein_coding	3/8			chr13	TogoVar
ELF1_chr13_40926924_41024316	41018211	C C	CAGAAATA others(33): Show CAGAAATAAAATACTACTGCACTCATCTTTACAGAGCACCT	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	362	0.0028	40	c.-22 others(58): Show c.-229+977_-229+1016dupAGGTGCTCTGTAAAGATGAGTGCAGTA GTATTTTATTTCT	ELF1	ENSG00000120690.16	transcript	ENST00000239882.7	protein_coding	1/8			chr13	TogoVar
ELF2_chr4_139052265_139182218	139151032	A A	AGAAAAGA others(33): Show AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0206 a0001c0001t0002g0206	1	342	0.0029	40	c.-25 others(61): Show c.-251-11536_-251-11535insCTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTC	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	1/9			chr4	TogoVar
ELL_chr19_18437663_18527070	18454840	C C	CAAAAAAA others(33): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	244	0.0041	40	c.870 others(57): Show c.870-3193_870-3192insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	6/11			chr19	TogoVar
ELMO1_chr7_36847906_37453864	37161905	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0028 a0001c0002t0003g0028	1	92	0.0109	40	c.108 others(61): Show c.1087-28672_1087-28671insATATATATATATATATATATATAT ATATATATATATATAT	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	13/21			chr7	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGCGGGG others(33): Show GGGCGGGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0027	1	312	0.0032	40	c.-47 others(51): Show c.-4772_-4771insACACACACACACACACACACACACACACACACCC CCCGCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGCGGTG others(33): Show GGGCGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	312	0.0032	40	c.-47 others(51): Show c.-4772_-4771insACACACACACACACACACACACACACACACACAC ACCGCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGGCGGG others(33): Show GGGGCGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG01109.hp2 NA18961.hp1 others(1): Show HG00733.hp2 HG01109.hp2 NA18961.hp1 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0060 a0001c0001t0004g0035 a0001c0001t0004g0229 others(1): Show a0001c0001t0003g0060 a0001c0001t0004g0035 a0001c0001t0004g0229 a0001c0001t0004g0241	4	312	0.0128	40	c.-47 others(51): Show c.-4772_-4771insACACACACACACACACACACACACACACACACAC CCGCCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411195	C C	CGGGTGTG others(33): Show CGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 NA18957.hp2 NA19003.hp1 HG02027.hp1 NA18957.hp2 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0085 a0001c0001t0001g0093 a0001c0001t0003g0007 a0001c0001t0001g0085 a0001c0001t0001g0093 a0001c0001t0003g0007	3	312	0.0096	40	c.-47 others(51): Show c.-4774_-4773insACACACACACACACACACACACACACACACACAC ACACCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4581		chr20	TogoVar
ELOVL2_chr6_10975759_11049305	10978305	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATAATTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0283	1	380	0.0026	40	c.54 others(51): Show c.5475_*5476insAAAAAAAAATTATATATATATATATATATATATA TATATA	ELOVL2	ENSG00000197977.4	transcript	ENST00000354666.4	protein_coding		2453		chr6	TogoVar
ELOVL2_chr6_10975759_11049305	11037171	A A	AAGAGAGG others(33): Show AAGAGAGGCAGAGAGGGAAAGAGAGAGGCAGAGAGGGAAAG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp1 HG00558.hp2 others(37): Show HG00423.hp1 HG00544.hp1 HG00558.hp2 HG00621.hp1 HG02015.hp2 HG02027.hp1 HG02056.hp2 HG02074.hp1 HG02129.hp2 HG02155.hp1 HG02300.hp2 HG02523.hp2 NA18612.hp2 NA18940.hp1 NA18942.hp2 NA18943.hp2 NA18946.hp1 NA18953.hp1 NA18955.hp1 NA18965.hp1 NA18967.hp2 NA18974.hp1 NA18985.hp2 NA18986.hp1 NA18989.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp2 NA18997.hp1 NA19001.hp1 NA19005.hp2 NA19012.hp1 NA19054.hp2 NA19058.hp2 NA19060.hp2 NA19064.hp2 NA19065.hp2 NA19067.hp1 NA19088.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0019 a0001c0001t0003g0311 others(30): Show a0001c0001t0003g0001 a0001c0001t0003g0019 a0001c0001t0003g0311 a0001c0001t0003g0312 a0001c0001t0003g0313 a0001c0001t0003g0314 a0001c0001t0003g0315 a0001c0001t0003g0316 a0001c0001t0003g0317 a0001c0001t0003g0318 a0001c0001t0003g0319 a0001c0001t0003g0320 a0001c0001t0003g0321 a0001c0001t0003g0322 a0001c0001t0003g0323 a0001c0001t0003g0324 a0001c0001t0003g0325 a0001c0001t0003g0326 a0001c0001t0003g0327 a0001c0001t0003g0328 a0001c0001t0003g0329 a0001c0001t0003g0330 a0001c0001t0003g0331 a0001c0001t0003g0332 a0001c0001t0003g0333 a0001c0001t0003g0334 a0001c0001t0003g0335 a0001c0001t0003g0337 a0001c0001t0003g0338 a0001c0001t0003g0339 a0001c0001t0003g0340 a0001c0001t0003g0341 a0001c0001t0003g0342	40	380	0.1053	40	c.3+7 others(53): Show c.3+7017_3+7056dupCTTTCCCTCTCTGCCTCTCTCTTTCCCTCTCT GCCTCTCT	ELOVL2	ENSG00000197977.4	transcript	ENST00000354666.4	protein_coding	1/7			chr6	TogoVar
ELOVL2_chr6_10975759_11049305	11043467	A A	AACACACA others(33): Show AACACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01928.hp1 NA18960.hp1 HG01928.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0031 a0001c0001t0001g0032	2	380	0.0053	40	c.3+7 others(51): Show c.3+760_3+761insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	ELOVL2	ENSG00000197977.4	transcript	ENST00000354666.4	protein_coding	1/7			chr6	TogoVar
ELOVL6_chr4_110040846_110203615	110117903	A A	AAAAAAAA others(33): Show AAAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	338	0.0030	40	c.90- others(57): Show c.90-12276_90-12275insATATATATATATATATATATATATATAT TTTTTTTTTTTT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110117903	A A	AAAAAAAA others(33): Show AAAAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18974.hp1 NA18974.hp2 NA18941.hp2 NA18974.hp1 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0001 a0001c0001t0003 a0001c0001t0006	a0001c0001t0001g0118 a0001c0001t0003g0053 a0001c0001t0006g0113 a0001c0001t0001g0118 a0001c0001t0003g0053 a0001c0001t0006g0113	3	338	0.0089	40	c.90- others(57): Show c.90-12276_90-12275insATATATATATATATATATATATATATAT ATATTTTTTTTT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELP5_chr17_7247215_7264937	7258763	G G	GTTGGGGG others(33): Show GTTGGGGGTGGGGTCAGGGATTCTAGGGATGGGGCAGATGT	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	412	0.0024	40	c.688 others(53): Show c.688-26_688-25insTGTTTGGGGGTGGGGTCAGGGATTCTAGGGAT GGGGCAGA	ELP5	ENSG00000170291.16	transcript	ENST00000396628.7	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr17	TogoVar
EMC10_chr19_50471507_50495871	50472090	A A	ATGTATAT others(33): Show ATGTATATGTATATATACGTGTGTATATGTATATATACGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp1 NA18973.hp1 NA18954.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0046 a0001c0001t0024 a0001c0001t0046	a0001c0001t0024g0001 a0001c0001t0046g0056 a0001c0001t0024g0001 a0001c0001t0046g0056	2	352	0.0057	40	c.-44 others(51): Show c.-4455_-4454insTGTATATGTATATATACGTGTGTATATGTATATA TACGTG	EMC10	ENSG00000161671.17	transcript	ENST00000334976.11	protein_coding		4416		chr19	TogoVar
EMC2_chr8_108438624_108494196	108443350	A A	AACACACA others(33): Show AACACACACACACACACACACACACACACACACACACACCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG02451.hp2 HG03139.hp2 HG01167.hp2 HG02451.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0014 a0001c0001t0004 a0001c0001t0014	a0001c0001t0004g0186 a0001c0001t0014g0184 a0001c0001t0014g0185 a0001c0001t0004g0186 a0001c0001t0014g0184 a0001c0001t0014g0185	3	364	0.0082	40	c.-30 others(49): Show c.-309_-308insACACACACACACACACACACACACACACACACACAC ACCC	EMC2	ENSG00000104412.8	transcript	ENST00000220853.8	protein_coding		273		chr8	TogoVar
EMC2_chr8_108438624_108494196	108443350	A A	AACACACA others(33): Show AACACACACACACACACACACACACACACACACCCACACCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00544.hp1 HG00558.hp1 others(83): Show HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00609.hp1 HG00621.hp1 HG00738.hp2 HG01069.hp2 HG01071.hp1 HG01081.hp1 HG01123.hp2 HG01192.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01934.hp1 HG01975.hp1 HG02040.hp2 HG02074.hp1 HG02129.hp2 HG02155.hp2 HG02257.hp2 HG02293.hp1 HG02523.hp1 HG02630.hp1 HG02683.hp1 HG02698.hp1 HG02735.hp1 HG02738.hp2 HG02896.hp2 HG02897.hp1 HG03130.hp2 HG03239.hp2 HG03516.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03834.hp1 HG04115.hp1 HG04184.hp1 HG04204.hp1 HG04228.hp1 NA18612.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18948.hp2 NA18951.hp2 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18973.hp2 NA18976.hp2 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18982.hp1 NA18983.hp1 NA18985.hp1 NA18986.hp1 NA18991.hp1 NA18993.hp2 NA18994.hp2 NA19004.hp2 NA19007.hp1 NA19010.hp2 NA19057.hp2 NA19058.hp1 NA19065.hp2 NA19066.hp2 NA19074.hp1 NA19079.hp2 NA19081.hp1 NA19082.hp2 NA19084.hp1 NA19087.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp2 NA20805.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 others(5): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0013 a0001c0001t0024 a0001c0001t0029 a0001c0001t0031 a0003c0004t0002	a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0006 others(61): Show a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0117 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0143 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0152 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0006g0012 a0001c0001t0007g0020 a0001c0001t0007g0095 a0001c0001t0007g0096 a0001c0001t0007g0097 a0001c0001t0013g0003 a0001c0001t0024g0060 a0001c0001t0029g0003 a0001c0001t0031g0118 a0003c0004t0002g0135	86	364	0.2363	40	c.-30 others(49): Show c.-309_-308insACACACACACACACACACACACACACACACACCCAC ACCC	EMC2	ENSG00000104412.8	transcript	ENST00000220853.8	protein_coding		273		chr8	TogoVar
EMC2_chr8_108438624_108494196	108443350	A A	AACACACA others(33): Show AACACACACACACACACACACACACACACACCCCCACACCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG01168.hp1 HG01891.hp2 others(16): Show HG00099.hp1 HG01168.hp1 HG01891.hp2 HG02027.hp2 HG02055.hp1 HG02109.hp2 HG02280.hp2 HG02559.hp1 HG02809.hp2 HG02970.hp2 HG03130.hp1 HG03471.hp1 HG04204.hp2 NA18950.hp1 NA18952.hp1 NA18964.hp2 NA18975.hp1 NA19012.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0003 a0001c0001t0003 a0001c0002t0003	a0001c0001t0003g0002 a0001c0001t0003g0008 a0001c0001t0003g0018 others(12): Show a0001c0001t0003g0002 a0001c0001t0003g0008 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0062 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0077 a0001c0001t0003g0082 a0001c0001t0003g0091 a0001c0002t0003g0083	19	364	0.0522	40	c.-30 others(49): Show c.-309_-308insACACACACACACACACACACACACACACACCCCCAC ACCC	EMC2	ENSG00000104412.8	transcript	ENST00000220853.8	protein_coding		273		chr8	TogoVar
EMC2_chr8_108438624_108494196	108443350	A A	AACACACA others(33): Show AACACACACACACACACACACACACACACCCCCCCACACCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00423.hp2 others(30): Show HG00140.hp2 HG00323.hp2 HG00423.hp2 HG00609.hp2 HG00733.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01099.hp1 HG01106.hp2 HG01168.hp2 HG01169.hp2 HG01952.hp1 HG02015.hp1 HG02074.hp2 HG02257.hp1 HG02698.hp2 HG03041.hp2 HG03209.hp1 HG03490.hp2 HG03491.hp1 HG03669.hp2 HG03710.hp1 HG04115.hp2 HG04228.hp2 NA18947.hp2 NA19006.hp2 NA19010.hp1 NA19070.hp1 NA19084.hp2 NA20129.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0026 a0001c0002t0003 a0001c0001t0003 a0001c0001t0026 a0001c0002t0003	a0001c0001t0003g0002 a0001c0001t0003g0018 a0001c0001t0003g0019 others(23): Show a0001c0001t0003g0002 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0026 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0061 a0001c0001t0003g0063 a0001c0001t0003g0065 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0076 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0084 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0026g0079 a0001c0002t0003g0085 a0001c0002t0003g0086	33	364	0.0907	40	c.-30 others(49): Show c.-309_-308insACACACACACACACACACACACACACACCCCCCCAC ACCC	EMC2	ENSG00000104412.8	transcript	ENST00000220853.8	protein_coding		273		chr8	TogoVar
EMC2_chr8_108438624_108494196	108443350	A A	AACACACA others(33): Show AACACACACACACACACACACACACACCCACACCCACACCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0257 a0001c0001t0030g0257	1	364	0.0028	40	c.-30 others(49): Show c.-309_-308insACACACACACACACACACACACACACCCACACCCAC ACCC	EMC2	ENSG00000104412.8	transcript	ENST00000220853.8	protein_coding		273		chr8	TogoVar
EMC2_chr8_108438624_108494196	108443350	A A	AACACACA others(33): Show AACACACACACACACACACACACACACCCCCCCCCACACCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0078 a0001c0001t0003g0078	1	364	0.0028	40	c.-30 others(49): Show c.-309_-308insACACACACACACACACACACACACACCCCCCCCCAC ACCC	EMC2	ENSG00000104412.8	transcript	ENST00000220853.8	protein_coding		273		chr8	TogoVar
EMC2_chr8_108438624_108494196	108443350	A A	AACACACA others(33): Show AACACACACACACACACAGACACACACACACACCCACACCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0122 a0001c0001t0002g0122	1	364	0.0028	40	c.-30 others(49): Show c.-309_-308insACACACACACACACACAGACACACACACACACCCAC ACCC	EMC2	ENSG00000104412.8	transcript	ENST00000220853.8	protein_coding		273		chr8	TogoVar
EMC3_chr3_9957682_9991841	9963456	T T	TAGATAGA others(33): Show TAGATAGATAGATATAGATATATATATATATATAGATATAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0062	a0001c0001t0062g0267 a0001c0001t0062g0267	1	322	0.0031	40	c.61 others(49): Show c.612_*613insCTATATCTATATATATATATATATCTATATCTATCT ATCT	EMC3	ENSG00000125037.13	transcript	ENST00000245046.7	protein_coding	8/8	612		chr3	TogoVar
EMC7_chr15_34079017_34106862	34093806	C C	CACACACA others(33): Show CACACACACACACACATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	410	0.0024	40	c.356 others(57): Show c.356+2088_356+2089insATATATATATATATATATATATATATGT GTGTGTGTGTGT	EMC7	ENSG00000134153.10	transcript	ENST00000256545.9	protein_coding	2/4			chr15	TogoVar
EMC7_chr15_34079017_34106862	34093806	C C	CACACACA others(33): Show CACACACACACACATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	410	0.0024	40	c.356 others(57): Show c.356+2088_356+2089insATATATATATATATATATATATATATAT GTGTGTGTGTGT	EMC7	ENSG00000134153.10	transcript	ENST00000256545.9	protein_coding	2/4			chr15	TogoVar
EMCN_chr4_100390341_100523022	100448822	T T	TCCTTCCT others(33): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0212 a0001c0001t0003g0212	1	262	0.0038	40	c.377 others(57): Show c.377-1252_377-1251insGAGGGAGGGAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGG	EMCN	ENSG00000164035.10	transcript	ENST00000296420.9	protein_coding	4/11			chr4	TogoVar
EMCN_chr4_100390341_100523022	100448822	T T	TCCTTCCT others(33): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03209.hp2 NA18522.hp1 others(2): Show HG02559.hp2 HG03209.hp2 NA18522.hp1 NA19043.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0009 a0002c0002t0009 a0001c0001t0003 a0001c0001t0009 a0002c0002t0009	a0001c0001t0003g0207 a0001c0001t0003g0255 a0001c0001t0009g0242 others(2): Show a0001c0001t0003g0207 a0001c0001t0003g0255 a0001c0001t0009g0242 a0001c0001t0009g0243 a0002c0002t0009g0171	5	262	0.0191	40	c.377 others(57): Show c.377-1252_377-1251insGAGGGAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGG	EMCN	ENSG00000164035.10	transcript	ENST00000296420.9	protein_coding	4/11			chr4	TogoVar
EMCN_chr4_100390341_100523022	100448822	T T	TCCTTCCT others(33): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0162 a0002c0002t0004g0162	1	262	0.0038	40	c.377 others(57): Show c.377-1252_377-1251insGAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGG	EMCN	ENSG00000164035.10	transcript	ENST00000296420.9	protein_coding	4/11			chr4	TogoVar
EML4_chr2_42164353_42337548	42245094	C C	CTTTTTTT others(33): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0014 a0001c0005t0014	a0001c0005t0014g0348 a0001c0005t0014g0348	1	358	0.0028	40	c.26- others(53): Show c.26-393_26-392insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	EML4	ENSG00000143924.19	transcript	ENST00000318522.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54823850	T T	TTCTCTCT others(33): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0159 a0001c0003t0002g0159	1	264	0.0038	40	c.525 others(57): Show c.525+3415_525+3416insCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCT	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	5/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54882857	C C	CAAAAAAA others(33): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01175.hp2 HG01081.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0002 a0001c0001t0003 a0001c0003t0002	a0001c0001t0003g0137 a0001c0003t0002g0148 a0001c0001t0003g0137 a0001c0003t0002g0148	2	264	0.0076	40	c.243 others(59): Show c.2438+3234_2438+3235insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAA	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	17/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54944971	C C	CTCGCCCC others(33): Show CTCGCCCCTCCCTTTCTCCCTCCCCTCCCCCATCCATTCCT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0029 a0001c0007t0029	a0001c0007t0029g0103 a0001c0007t0029g0103	1	264	0.0038	40	c.400 others(59): Show c.4005-3910_4005-3871dupTCGCCCCTCCCTTTCTCCCTCCCCTC CCCCATCCATTCCT	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	28/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
ENDOD1_chr11_95084846_95137645	95114260	G G	GCAATTCT others(33): Show GCAATTCTCCTGCCTCACCCTCCCAGGTAGCTGGGATTACA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02896.hp2 HG02897.hp1 others(2): Show HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007	a0001c0001t0002g0184 a0001c0001t0004g0025 a0001c0001t0007g0017 a0001c0001t0002g0184 a0001c0001t0004g0025 a0001c0001t0007g0017	5	368	0.0136	40	c.301 others(59): Show c.301-14117_301-14116insCAATTCTCCTGCCTCACCCTCCCAGG TAGCTGGGATTACA	ENDOD1	ENSG00000149218.5	transcript	ENST00000278505.5	protein_coding	1/1			chr11	TogoVar
ENDOD1_chr11_95084846_95137645	95114260	G G	GCAATTCT others(33): Show GCAATTCTCCTGCCTCACCCTCCCAGGTAGCTGGGATTATA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03579.hp1 HG03195.hp2 HG03579.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0046 a0002c0002t0002g0205 a0002c0002t0002g0046 a0002c0002t0002g0205	2	368	0.0054	40	c.301 others(59): Show c.301-14117_301-14116insCAATTCTCCTGCCTCACCCTCCCAGG TAGCTGGGATTATA	ENDOD1	ENSG00000149218.5	transcript	ENST00000278505.5	protein_coding	1/1			chr11	TogoVar
ENOX1_chr13_43208130_43791972	43541173	G G	GTTTTTTT others(33): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0126 a0001c0001t0004g0126	1	188	0.0053	40	c.-21 others(61): Show c.-218-57022_-218-57021insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAA	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	2/16			chr13	TogoVar
ENPP6_chr4_184083706_184222873	184131259	T T	TTTCTCTT others(33): Show TTTCTCTTTCTTTCTTTCTTTCCTTCTTTCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG03041.hp2 HG01975.hp1 HG03041.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0024 a0001c0003t0003g0121 a0001c0003t0003g0024 a0001c0003t0003g0121	2	320	0.0063	40	c.422 others(57): Show c.422-6988_422-6987insGAAGGAAGGAAGAAAGAAGGAAAGAAAG AAAGAAAGAGAA	ENPP6	ENSG00000164303.11	transcript	ENST00000296741.7	protein_coding	2/7			chr4	TogoVar
ENPP6_chr4_184083706_184222873	184162576	A A	AAAGGAAG others(33): Show AAAGGAAGGAAAGAAGGAAGGAAAGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03490.hp1 HG03654.hp2 others(4): Show HG03017.hp2 HG03490.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG04228.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0002 a0001c0002t0013 a0002c0001t0001 a0001c0002t0002 a0001c0002t0013 a0002c0001t0001	a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0101 others(4): Show a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0101 a0001c0002t0013g0043 a0002c0001t0001g0044 a0002c0001t0001g0290 a0002c0001t0001g0292	7	320	0.0219	40	c.242 others(57): Show c.242-8844_242-8843insCCTTCCTTCCTTCCTTCTTTCCTTCCTT CTTTCCTTCCTT	ENPP6	ENSG00000164303.11	transcript	ENST00000296741.7	protein_coding	1/7			chr4	TogoVar
ENPP7_chr17_79725943_79747219	79732121	C C	CATATATA others(33): Show CATATATATATATACACATATATACACATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0124 a0002c0001t0001g0124	1	430	0.0023	40	c.253 others(55): Show c.253+739_253+740insATACACATATATACACATATATATATATAT ATATATATAT	ENPP7	ENSG00000182156.10	transcript	ENST00000328313.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
ENPP7_chr17_79725943_79747219	79732121	C C	CATATATA others(33): Show CATATATATATATATACATATATACACACATATATATATAT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0128 a0002c0001t0002g0128	1	430	0.0023	40	c.253 others(55): Show c.253+739_253+740insATATACATATATACACACATATATATATAT ATATATATAT	ENPP7	ENSG00000182156.10	transcript	ENST00000328313.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
ENPP7_chr17_79725943_79747219	79732121	C C	CATATATA others(33): Show CATATATATATATATACATATATACACATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00558.hp2 HG00642.hp1 others(26): Show HG00323.hp2 HG00558.hp2 HG00642.hp1 HG00738.hp1 HG01081.hp2 HG01099.hp1 HG01192.hp1 HG01192.hp2 HG02027.hp1 HG02071.hp2 HG02074.hp2 HG02559.hp2 HG02622.hp1 HG03139.hp1 NA18952.hp1 NA18964.hp1 NA18964.hp2 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18989.hp1 NA19004.hp2 NA19067.hp2 NA19084.hp2 NA19087.hp1 NA19088.hp2 NA19091.hp1 NA20752.hp1 NA20905.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0011	a0001c0008 a0002c0001 a0002c0020 others(2): Show a0001c0008 a0002c0001 a0002c0020 a0003c0005 a0011c0033	a0001c0008t0001 a0002c0001t0001 a0002c0001t0002 others(3): Show a0001c0008t0001 a0002c0001t0001 a0002c0001t0002 a0002c0020t0001 a0003c0005t0001 a0011c0033t0001	a0001c0008t0001g0014 a0002c0001t0001g0004 a0002c0001t0001g0014 others(13): Show a0001c0008t0001g0014 a0002c0001t0001g0004 a0002c0001t0001g0014 a0002c0001t0001g0029 a0002c0001t0001g0054 a0002c0001t0001g0055 a0002c0001t0001g0155 a0002c0001t0001g0156 a0002c0001t0001g0157 a0002c0001t0001g0158 a0002c0001t0001g0160 a0002c0001t0002g0004 a0002c0001t0002g0029 a0002c0020t0001g0014 a0003c0005t0001g0050 a0011c0033t0001g0159	29	430	0.0674	40	c.253 others(55): Show c.253+739_253+740insATATACATATATACACATATATATATATAT ATATATATAT	ENPP7	ENSG00000182156.10	transcript	ENST00000328313.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr17	TogoVar

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