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
ELAC2_chr17_12986612_13023027	13022550	C C	CTTCCTTC others(2): Show CTTCCTTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG03209.hp2 HG03831.hp2 HG01884.hp2 HG03209.hp2 HG03831.hp2	a0002 a0002	a0002c0002 a0002c0007 a0002c0008 a0002c0002 a0002c0007 a0002c0008	a0002c0002t0005 a0002c0007t0017 a0002c0008t0012 a0002c0002t0005 a0002c0007t0017 a0002c0008t0012	a0002c0002t0005g0091 a0002c0007t0017g0080 a0002c0008t0012g0034 a0002c0002t0005g0091 a0002c0007t0017g0080 a0002c0008t0012g0034	3	400	0.0075	9	c.-46 others(20): Show c.-4604_-4603insAGGAAGGAA	ELAC2	ENSG00000006744.19	transcript	ENST00000338034.9	protein_coding		4524		chr17	TogoVar
ELAPOR2_chr7_86871906_87064654	86953180	G G	GATTTATA others(2): Show GATTTATAAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00597.hp1 HG00639.hp1 others(77): Show HG00423.hp2 HG00597.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG01071.hp2 HG01081.hp2 HG01167.hp1 HG01168.hp2 HG01243.hp2 HG01257.hp2 HG01433.hp2 HG01517.hp2 HG01884.hp2 HG01993.hp1 HG02109.hp1 HG02132.hp1 HG02257.hp1 HG02258.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02622.hp2 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG02922.hp2 HG02970.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG04115.hp2 HG04204.hp1 NA18942.hp1 NA18944.hp1 NA18946.hp2 NA18953.hp1 NA18954.hp2 NA18961.hp2 NA18977.hp2 NA18991.hp2 NA18993.hp2 NA18994.hp1 NA18999.hp1 NA19002.hp2 NA19030.hp1 NA19043.hp2 NA19060.hp2 NA19066.hp1 NA19074.hp1 NA19077.hp1 NA19081.hp2 NA19084.hp2 NA19088.hp1 NA19090.hp1 NA20129.hp2 NA20752.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0008	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0004c0006 a0005c0011 a0008c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0010 a0001c0003t0001 a0001c0003t0004 a0001c0003t0007 a0001c0003t0011 a0001c0004t0001 a0001c0004t0003 a0002c0002t0001 a0002c0002t0002 a0004c0006t0001 a0005c0011t0001 a0008c0010t0004	a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0031 others(77): Show a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0089 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0133 a0001c0001t0001g0142 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0175 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0151 a0001c0001t0003g0018 a0001c0001t0004g0119 a0001c0001t0009g0063 a0001c0001t0010g0108 a0001c0003t0001g0011 a0001c0003t0001g0076 a0001c0003t0001g0091 a0001c0003t0004g0006 a0001c0003t0004g0087 a0001c0003t0004g0090 a0001c0003t0004g0094 a0001c0003t0004g0131 a0001c0003t0004g0137 a0001c0003t0007g0154 a0001c0003t0007g0182 a0001c0003t0011g0100 a0001c0004t0001g0051 a0001c0004t0003g0025 a0001c0004t0003g0026 a0001c0004t0003g0028 a0001c0004t0003g0029 a0001c0004t0003g0030 a0001c0004t0003g0074 a0001c0004t0003g0185 a0002c0002t0001g0015 a0002c0002t0001g0017 a0002c0002t0001g0081 a0002c0002t0001g0084 a0002c0002t0001g0155 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0187 a0002c0002t0002g0140 a0002c0002t0002g0141 a0004c0006t0001g0191 a0004c0006t0001g0192 a0004c0006t0001g0193 a0004c0006t0001g0194 a0004c0006t0001g0195 a0004c0006t0001g0196 a0005c0011t0001g0177 a0008c0010t0004g0176	80	196	0.4082	9	c.311 others(26): Show c.311-5259_311-5258insATTATAAAT	ELAPOR2	ENSG00000164659.15	transcript	ENST00000450689.7	protein_coding	2/21			chr7	TogoVar
ELAPOR2_chr7_86871906_87064654	86993234	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00738.hp2 HG00741.hp2 others(37): Show HG00639.hp1 HG00738.hp2 HG00741.hp2 HG01081.hp2 HG01168.hp2 HG01255.hp1 HG01361.hp1 HG01433.hp2 HG01517.hp2 HG02015.hp2 HG02040.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02622.hp2 HG02630.hp2 HG02723.hp2 HG02818.hp2 HG02895.hp2 HG03041.hp1 HG03098.hp2 HG03195.hp2 HG03225.hp1 HG03471.hp2 HG03486.hp1 HG04204.hp2 HG04228.hp1 NA18955.hp1 NA18977.hp1 NA18981.hp2 NA19002.hp2 NA19043.hp1 NA19066.hp2 NA19077.hp1 NA19090.hp2 NA20805.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0003 a0001c0008 others(3): Show a0001c0001 a0001c0003 a0001c0008 a0002c0002 a0003c0005 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0003t0001 a0001c0003t0004 a0001c0003t0007 a0001c0003t0011 a0001c0008t0001 a0002c0002t0001 a0003c0005t0001 a0004c0006t0001	a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0040 others(37): Show a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0082 a0001c0001t0001g0101 a0001c0001t0001g0110 a0001c0001t0001g0144 a0001c0001t0001g0153 a0001c0001t0002g0151 a0001c0001t0003g0178 a0001c0001t0006g0034 a0001c0003t0001g0076 a0001c0003t0001g0091 a0001c0003t0004g0087 a0001c0003t0004g0090 a0001c0003t0004g0094 a0001c0003t0007g0154 a0001c0003t0007g0182 a0001c0003t0011g0100 a0001c0008t0001g0043 a0002c0002t0001g0015 a0003c0005t0001g0077 a0003c0005t0001g0078 a0003c0005t0001g0079 a0003c0005t0001g0080 a0003c0005t0001g0083 a0004c0006t0001g0191 a0004c0006t0001g0192 a0004c0006t0001g0193 a0004c0006t0001g0194 a0004c0006t0001g0195 a0004c0006t0001g0196	40	196	0.2041	9	c.190 others(28): Show c.190-28219_190-28211dupTTTTTTTTT	ELAPOR2	ENSG00000164659.15	transcript	ENST00000450689.7	protein_coding	1/21			chr7	TogoVar
ELAVL2_chr9_23685104_23831240	23702951	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01884.hp2 HG01928.hp2 others(19): Show HG00438.hp2 HG01884.hp2 HG01928.hp2 HG01975.hp2 HG01978.hp2 HG02071.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02300.hp2 HG02486.hp1 HG02738.hp1 HG03098.hp1 NA18612.hp2 NA18939.hp2 NA18952.hp2 NA18964.hp2 NA18966.hp2 NA18983.hp1 NA18988.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0022 a0001c0002t0002	a0001c0001t0001g0069 a0001c0001t0001g0140 a0001c0001t0001g0153 others(19): Show a0001c0001t0001g0069 a0001c0001t0001g0140 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0160 a0001c0001t0001g0169 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0218 a0001c0001t0001g0224 a0001c0001t0001g0242 a0001c0001t0001g0277 a0001c0001t0001g0281 a0001c0001t0001g0298 a0001c0001t0001g0314 a0001c0001t0004g0130 a0001c0001t0004g0349 a0001c0001t0005g0055 a0001c0001t0005g0061 a0001c0001t0022g0072 a0001c0002t0002g0004 a0001c0002t0002g0029	22	352	0.0625	9	c.488 others(26): Show c.488-1356_488-1348dupTTTTTTTTT	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	4/6			chr9	TogoVar
ELAVL2_chr9_23685104_23831240	23830625	C C	CACACACA others(2): Show CACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02055.hp2 HG02622.hp2 others(4): Show HG01884.hp1 HG02055.hp2 HG02622.hp2 HG02717.hp2 HG03209.hp1 HG03225.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0002t0002 a0001c0001t0010 a0001c0002t0002	a0001c0001t0010g0006 a0001c0001t0010g0008 a0001c0002t0002g0018 others(4): Show a0001c0001t0010g0006 a0001c0001t0010g0008 a0001c0002t0002g0018 a0001c0002t0002g0019 a0001c0002t0002g0025 a0001c0002t0002g0038 a0001c0002t0002g0039	7	352	0.0199	9	c.-48 others(20): Show c.-4836_-4835insTGTGTGTGT	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding		4386		chr9	TogoVar
ELF2_chr4_139052265_139182218	139092399	T T	TAACATAA others(2): Show TAACATAACA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01256.hp1 HG01258.hp2 others(7): Show HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01891.hp2 HG01981.hp2 HG02056.hp1 HG02723.hp2 HG02809.hp1 HG02895.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0026 a0001c0001t0001g0223 a0001c0001t0001g0224 others(7): Show a0001c0001t0001g0026 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0262 a0001c0001t0001g0277 a0001c0001t0002g0199 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0226	10	342	0.0292	9	c.239 others(28): Show c.239-18841_239-18833dupTGTTATGTT	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	4/9			chr4	TogoVar
ELF2_chr4_139052265_139182218	139150967	T T	TGAGCCGA others(2): Show TGAGCCGAGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00323.hp1 others(105): Show HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00621.hp2 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01106.hp2 HG01243.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01884.hp2 HG01981.hp2 HG01993.hp1 HG02055.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp2 HG02145.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02572.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03471.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03688.hp2 HG03704.hp1 HG03834.hp2 HG04184.hp1 HG04199.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18952.hp1 NA18954.hp2 NA18959.hp2 NA18962.hp1 NA18963.hp2 NA18965.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18974.hp2 NA18977.hp1 NA18980.hp1 NA18981.hp2 NA18992.hp2 NA18998.hp2 NA19000.hp2 NA19001.hp1 NA19004.hp2 NA19009.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19057.hp2 NA19063.hp1 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp2 NA19079.hp2 NA19082.hp1 NA19088.hp1 NA20129.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 a0003c0003t0003	a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0195 others(105): Show a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0002g0062 a0001c0001t0002g0109 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0197 a0001c0001t0002g0199 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0220 a0001c0001t0002g0226 a0001c0001t0002g0228 a0001c0001t0002g0231 a0001c0001t0002g0335 a0001c0001t0002g0336 a0001c0001t0002g0340 a0001c0001t0002g0341 a0001c0001t0003g0130 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0229 a0001c0001t0005g0107 a0001c0001t0005g0108 a0001c0001t0011g0190 a0003c0003t0003g0147 a0003c0003t0003g0148	108	342	0.3158	9	c.-25 others(30): Show c.-251-11479_-251-11471dupTCTCGGCTC	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	1/9			chr4	TogoVar
ELF4_chrX_130058955_130115497	130089509	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19055.hp1 NA19075.hp1 NA19043.hp1 NA19055.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0024 a0001c0001t0002 a0001c0001t0005 a0001c0001t0024	a0001c0001t0002g0269 a0001c0001t0005g0249 a0001c0001t0024g0155 a0001c0001t0002g0269 a0001c0001t0005g0249 a0001c0001t0024g0155	3	274	0.0110	9	c.-20 others(28): Show c.-209-7979_-209-7971dupTTTTTTTTT	ELF4	ENSG00000102034.18	transcript	ENST00000308167.10	protein_coding	1/8			chrX	TogoVar
ELFN2_chr22_37362960_37432479	37375836	C C	CCCTCCTC others(2): Show CCCTCCTCCT	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01099.hp1 HG02818.hp2 HG02895.hp1 others(6): Show HG01099.hp1 HG02818.hp2 HG02895.hp1 HG02965.hp1 NA18906.hp1 NA18964.hp1 NA19065.hp1 NA20129.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0024 a0001c0002t0066 a0001c0002t0067 others(5): Show a0001c0001t0024 a0001c0002t0066 a0001c0002t0067 a0001c0002t0068 a0001c0002t0069 a0001c0003t0042 a0001c0003t0043 a0001c0003t0044	a0001c0001t0024g0259 a0001c0001t0024g0260 a0001c0002t0066g0232 others(6): Show a0001c0001t0024g0259 a0001c0001t0024g0260 a0001c0002t0066g0232 a0001c0002t0067g0233 a0001c0002t0068g0133 a0001c0002t0069g0009 a0001c0003t0042g0229 a0001c0003t0043g0230 a0001c0003t0044g0329	9	334	0.0270	9	c.-31 others(18): Show c.-311_-303dupAGGAGGAGG	ELFN2	ENSG00000166897.16	transcript	ENST00000402918.7	protein_coding	3/3	303		chr22	TogoVar
ELK1_chrX_47630521_47655563	47650539	T T	TGGCGGTG others(2): Show TGGCGGTGGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0111 a0001c0001t0012g0111	1	276	0.0036	9	c.-26 others(18): Show c.-266_-258dupGCCACCGCC	ELK1	ENSG00000126767.18	transcript	ENST00000376983.8	protein_coding	1/7	9099		chrX	TogoVar
ELK3_chr12_96189375_96274824	96210597	A A	ACACACCC others(2): Show ACACACCCCC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01993.hp1 HG02293.hp2 others(1): Show HG01070.hp1 HG01993.hp1 HG02293.hp2 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0015 a0001c0001t0009g0016 a0001c0001t0009g0017 others(1): Show a0001c0001t0009g0015 a0001c0001t0009g0016 a0001c0001t0009g0017 a0001c0001t0009g0018	4	354	0.0113	9	c.-2- others(26): Show c.-2-12967_-2-12966insACACCCCCC	ELK3	ENSG00000111145.8	transcript	ENST00000228741.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
ELK3_chr12_96189375_96274824	96210598	C C	CACACACA others(2): Show CACACACACA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03492.hp2 NA18939.hp1 others(2): Show HG02145.hp1 HG03492.hp2 NA18939.hp1 NA18939.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0330 others(2): Show a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0330 a0001c0001t0002g0113 a0001c0001t0005g0290	5	354	0.0141	9	c.-2- others(26): Show c.-2-12967_-2-12966insACACACACA	ELK3	ENSG00000111145.8	transcript	ENST00000228741.8	protein_coding	1/4			chr12	TogoVar
ELK3_chr12_96189375_96274824	96228416	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02559.hp1 HG02895.hp1 others(7): Show HG00639.hp1 HG02559.hp1 HG02895.hp1 HG03130.hp1 NA18612.hp2 NA18946.hp1 NA18948.hp1 NA19043.hp1 NA19057.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0004t0001 a0002c0002t0002	a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0297 others(7): Show a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0297 a0001c0001t0004g0041 a0001c0001t0004g0065 a0001c0001t0004g0106 a0001c0001t0004g0125 a0001c0001t0004g0299 a0001c0004t0001g0189 a0002c0002t0002g0090	10	354	0.0283	9	c.207 others(26): Show c.207+4663_207+4671dupAAAAAAAAA	ELK3	ENSG00000111145.8	transcript	ENST00000228741.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
ELK4_chr1_205602943_205637011	205604005	C C	CAAAAAAA others(2): Show CAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00544.hp1 others(34): Show HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00597.hp2 HG00673.hp2 HG01168.hp2 HG01169.hp1 HG01243.hp2 HG01358.hp1 HG01358.hp2 HG01975.hp1 HG02080.hp2 HG02300.hp2 HG02451.hp2 HG02622.hp1 HG02738.hp1 HG02886.hp2 HG03017.hp1 HG03486.hp2 HG03942.hp2 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp2 NA18979.hp2 NA18982.hp2 NA18985.hp1 NA18995.hp1 NA18997.hp2 NA19055.hp1 NA19059.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp1 NA19091.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(8): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0017 a0001c0001t0029 a0001c0001t0051 a0001c0001t0055 a0001c0002t0002 a0001c0002t0016 a0001c0002t0062 a0001c0002t0072	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 others(30): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0053 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0078 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0149 a0001c0001t0006g0054 a0001c0001t0006g0055 a0001c0001t0006g0063 a0001c0001t0006g0065 a0001c0001t0006g0089 a0001c0001t0006g0104 a0001c0001t0006g0129 a0001c0001t0007g0031 a0001c0001t0007g0140 a0001c0001t0017g0230 a0001c0001t0029g0061 a0001c0001t0029g0079 a0001c0001t0051g0138 a0001c0001t0055g0108 a0001c0002t0002g0014 a0001c0002t0016g0033 a0001c0002t0062g0145 a0001c0002t0072g0235	37	424	0.0873	9	c.12 others(22): Show c.12532_*12540dupTTTTTTTTT	ELK4	ENSG00000158711.14	transcript	ENST00000357992.9	protein_coding		3937		chr1	TogoVar
ELL2_chr5_95880098_95966851	95948429	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01123.hp2 HG01496.hp1 others(44): Show HG01070.hp2 HG01123.hp2 HG01496.hp1 HG01934.hp2 HG02040.hp2 HG02056.hp1 HG02074.hp1 HG02273.hp2 HG02523.hp1 HG02647.hp1 HG02976.hp2 HG03130.hp2 HG03139.hp2 HG03540.hp2 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG04204.hp2 NA18612.hp2 NA18747.hp2 NA18941.hp1 NA18941.hp2 NA18946.hp2 NA18953.hp2 NA18957.hp1 NA18962.hp1 NA18975.hp1 NA18977.hp1 NA18980.hp1 NA18983.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18998.hp1 NA19006.hp1 NA19009.hp1 NA19030.hp2 NA19057.hp1 NA19060.hp1 NA19063.hp2 NA19068.hp2 NA19072.hp1 NA19074.hp2 NA19075.hp1 NA19087.hp1 NA19090.hp1 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0001c0006 a0002c0002 others(1): Show a0001c0003 a0001c0006 a0002c0002 a0003c0007	a0001c0003t0004 a0001c0003t0005 a0001c0006t0004 others(9): Show a0001c0003t0004 a0001c0003t0005 a0001c0006t0004 a0001c0006t0011 a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0002c0002t0009 a0002c0002t0013 a0002c0002t0019 a0002c0002t0020 a0003c0007t0001	a0001c0003t0004g0005 a0001c0003t0004g0040 a0001c0003t0005g0030 others(41): Show a0001c0003t0004g0005 a0001c0003t0004g0040 a0001c0003t0005g0030 a0001c0003t0005g0035 a0001c0003t0005g0038 a0001c0003t0005g0039 a0001c0006t0004g0047 a0001c0006t0011g0027 a0002c0002t0001g0001 a0002c0002t0001g0053 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0076 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0103 a0002c0002t0001g0121 a0002c0002t0001g0127 a0002c0002t0001g0129 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0002g0083 a0002c0002t0002g0136 a0002c0002t0006g0055 a0002c0002t0006g0090 a0002c0002t0009g0054 a0002c0002t0013g0063 a0002c0002t0019g0094 a0002c0002t0020g0052 a0003c0007t0001g0104	47	314	0.1497	9	c.148 others(26): Show c.148-5389_148-5381dupTTTTTTTTT	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	1/11			chr5	TogoVar
ELL2_chr5_95880098_95966851	95963725	C C	CTTTTTTT others(2): Show CTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG01496.hp1 HG02258.hp2 others(19): Show HG00609.hp1 HG01496.hp1 HG02258.hp2 HG02280.hp2 HG02647.hp1 HG03139.hp2 HG03471.hp2 HG03491.hp2 HG03492.hp2 NA18941.hp1 NA18957.hp1 NA18961.hp2 NA18966.hp2 NA18975.hp1 NA18981.hp1 NA18989.hp1 NA19009.hp1 NA19011.hp2 NA19030.hp2 NA19063.hp1 NA19070.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0006 a0002c0002 a0001c0003 a0001c0006 a0002c0002	a0001c0003t0004 a0001c0003t0005 a0001c0006t0004 others(2): Show a0001c0003t0004 a0001c0003t0005 a0001c0006t0004 a0001c0006t0011 a0002c0002t0001	a0001c0003t0004g0003 a0001c0003t0004g0004 a0001c0003t0004g0005 others(16): Show a0001c0003t0004g0003 a0001c0003t0004g0004 a0001c0003t0004g0005 a0001c0003t0004g0040 a0001c0003t0004g0041 a0001c0003t0004g0043 a0001c0003t0004g0045 a0001c0003t0004g0046 a0001c0003t0005g0030 a0001c0003t0005g0032 a0001c0003t0005g0034 a0001c0003t0005g0035 a0001c0003t0005g0036 a0001c0003t0005g0038 a0001c0003t0005g0039 a0001c0006t0004g0042 a0001c0006t0004g0047 a0001c0006t0011g0028 a0002c0002t0001g0026	22	314	0.0701	9	c.-20 others(20): Show c.-2005_-2004insAAAAAAAAA	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding		1875		chr5	TogoVar
ELL_chr19_18437663_18527070	18462367	G G	GTGTGTGG others(2): Show GTGTGTGGGC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01943.hp1 HG02132.hp2 others(3): Show HG01167.hp1 HG01943.hp1 HG02132.hp2 HG02976.hp1 NA19090.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0168 a0001c0001t0001g0183 others(3): Show a0001c0001t0001g0155 a0001c0001t0001g0168 a0001c0001t0001g0183 a0001c0001t0001g0212 a0001c0001t0001g0227 a0001c0001t0001g0236	6	244	0.0246	9	c.470 others(24): Show c.470-516_470-515insGCCCACACA	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	4/11			chr19	TogoVar
ELL_chr19_18437663_18527070	18482763	T T	TTTGTTGT others(2): Show TTTGTTGTTG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01081.hp2 HG02145.hp2 others(13): Show HG00323.hp2 HG01081.hp2 HG02145.hp2 HG02559.hp1 HG02615.hp1 HG02735.hp1 HG02735.hp2 HG02896.hp2 HG02897.hp2 HG03209.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp2 HG04184.hp1 NA20129.hp1 NA20752.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0005 a0002c0002t0001 a0002c0002t0005	a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0014 others(13): Show a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0016 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0118 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0130 a0002c0002t0001g0135 a0002c0002t0001g0139 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0005g0123 a0002c0002t0005g0128	16	244	0.0656	9	c.136 others(26): Show c.136-9890_136-9882dupCAACAACAA	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	1/11			chr19	TogoVar
ELL_chr19_18437663_18527070	18482794	T T	TTGCTGCT others(2): Show TTGCTGCTGC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02647.hp1 HG02896.hp1 HG02622.hp1 HG02647.hp1 HG02896.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0174 a0001c0005t0007g0175 a0001c0005t0007g0176 a0001c0005t0007g0174 a0001c0005t0007g0175 a0001c0005t0007g0176	3	244	0.0123	9	c.136 others(26): Show c.136-9913_136-9912insGCAGCAGCA	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	1/11			chr19	TogoVar
ELL_chr19_18437663_18527070	18482794	T T	TTGTTGCT others(2): Show TTGTTGCTGC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02148.hp2 HG02809.hp2 others(3): Show HG02055.hp2 HG02148.hp2 HG02809.hp2 HG03098.hp2 NA19043.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0160 others(3): Show a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0188	6	244	0.0246	9	c.136 others(26): Show c.136-9913_136-9912insGCAGCAACA	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	1/11			chr19	TogoVar
ELL_chr19_18437663_18527070	18524439	C C	CAAAAAAA others(2): Show CAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG02896.hp1 HG02922.hp1 others(2): Show HG01081.hp1 HG02896.hp1 HG02922.hp1 HG02976.hp1 NA18906.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0005 a0006c0011 a0001c0001 a0001c0005 a0006c0011	a0001c0001t0001 a0001c0005t0007 a0006c0011t0001 a0001c0001t0001 a0001c0005t0007 a0006c0011t0001	a0001c0001t0001g0155 a0001c0001t0001g0163 a0001c0001t0001g0169 others(2): Show a0001c0001t0001g0155 a0001c0001t0001g0163 a0001c0001t0001g0169 a0001c0005t0007g0176 a0006c0011t0001g0171	5	244	0.0205	9	c.-23 others(20): Show c.-2385_-2384insTTTTTTTTT	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding		2370		chr19	TogoVar
ELMO1_chr7_36847906_37453864	36899684	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01261.hp2 HG02922.hp1 others(1): Show HG00741.hp2 HG01261.hp2 HG02922.hp1 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0002 a0001c0004t0002 a0001c0003t0002 a0001c0004t0002	a0001c0003t0002g0035 a0001c0003t0002g0050 a0001c0003t0002g0076 others(1): Show a0001c0003t0002g0035 a0001c0003t0002g0050 a0001c0003t0002g0076 a0001c0004t0002g0003	4	92	0.0435	9	c.143 others(28): Show c.1438-4676_1438-4668dupAAAAAAAAA	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	16/21			chr7	TogoVar
ELMO1_chr7_36847906_37453864	37221705	C C	CTTTTCTT others(2): Show CTTTTCTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00741.hp1 HG01123.hp1 others(27): Show HG00735.hp1 HG00741.hp1 HG01123.hp1 HG01192.hp1 HG01243.hp2 HG01258.hp1 HG01261.hp1 HG01358.hp2 HG02055.hp1 HG02109.hp1 HG02559.hp2 HG02615.hp2 HG02630.hp2 HG02717.hp2 HG02818.hp1 HG02886.hp2 HG02965.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03471.hp1 HG03471.hp2 HG03492.hp2 HG06807.hp2 NA18906.hp2 NA18970.hp1 NA19240.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0017 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0009 a0001c0002t0011 a0001c0003t0002 a0001c0005t0002 a0001c0005t0007 a0001c0007t0001	a0001c0001t0001g0090 a0001c0001t0002g0019 a0001c0001t0002g0030 others(27): Show a0001c0001t0001g0090 a0001c0001t0002g0019 a0001c0001t0002g0030 a0001c0001t0005g0006 a0001c0001t0006g0004 a0001c0001t0017g0012 a0001c0002t0001g0054 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0081 a0001c0002t0002g0048 a0001c0002t0002g0087 a0001c0002t0003g0013 a0001c0002t0003g0038 a0001c0002t0003g0077 a0001c0002t0004g0047 a0001c0002t0004g0053 a0001c0002t0005g0031 a0001c0002t0005g0056 a0001c0002t0006g0014 a0001c0002t0006g0021 a0001c0002t0007g0001 a0001c0002t0007g0018 a0001c0002t0007g0064 a0001c0002t0009g0069 a0001c0002t0011g0039 a0001c0003t0002g0091 a0001c0005t0002g0042 a0001c0005t0007g0016 a0001c0007t0001g0015	30	92	0.3261	9	c.780 others(24): Show c.780+909_780+910insAAAAGAAAA	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	10/21			chr7	TogoVar
ELMO1_chr7_36847906_37453864	37331333	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02486.hp2 HG02886.hp1 others(6): Show HG00741.hp1 HG02486.hp2 HG02886.hp1 HG02896.hp1 HG02965.hp2 HG03195.hp2 HG03471.hp1 NA18906.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 others(4): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0013 a0001c0002t0003 a0001c0002t0004 a0001c0002t0007	a0001c0001t0004g0063 a0001c0001t0006g0004 a0001c0001t0008g0059 others(6): Show a0001c0001t0004g0063 a0001c0001t0006g0004 a0001c0001t0008g0059 a0001c0001t0013g0078 a0001c0002t0003g0013 a0001c0002t0003g0077 a0001c0002t0004g0053 a0001c0002t0007g0001 a0001c0002t0007g0064	9	92	0.0978	9	c.78+ others(26): Show c.78+11271_78+11279dupAAAAAAAAA	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	2/21			chr7	TogoVar
ELMO1_chr7_36847906_37453864	37449431	C C	CAAAAAAA others(2): Show CAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG01123.hp2 HG01243.hp1 others(15): Show HG00741.hp2 HG01123.hp2 HG01243.hp1 HG01256.hp2 HG01258.hp2 HG01361.hp1 HG01934.hp1 HG02080.hp1 HG02080.hp2 HG02559.hp2 HG03453.hp1 HG03453.hp2 HG03492.hp1 HG06807.hp2 NA19000.hp1 NA19090.hp2 NA19240.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0015 a0001c0002t0001 a0001c0002t0003 a0001c0002t0007 a0001c0003t0002 a0001c0006t0004	a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0022 others(15): Show a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0083 a0001c0001t0002g0019 a0001c0001t0003g0026 a0001c0001t0003g0044 a0001c0001t0003g0082 a0001c0001t0004g0036 a0001c0001t0004g0046 a0001c0001t0015g0061 a0001c0002t0001g0071 a0001c0002t0003g0051 a0001c0002t0007g0001 a0001c0003t0002g0050 a0001c0006t0004g0058	18	92	0.1957	9	c.-83 others(18): Show c.-831_-830insTTTTTTTTT	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding		568		chr7	TogoVar
ELMO3_chr16_67194131_67209004	67195890	A A	ACAGCAGC others(2): Show ACAGCAGCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp1 HG02622.hp2 HG02818.hp1 others(5): Show HG02132.hp1 HG02622.hp2 HG02818.hp1 HG02896.hp1 HG03195.hp2 HG03486.hp1 HG03540.hp2 HG06807.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0015 a0001c0001 a0002c0015	a0001c0001t0001 a0002c0015t0001 a0001c0001t0001 a0002c0015t0001	a0001c0001t0001g0005 a0002c0015t0001g0001 a0001c0001t0001g0005 a0002c0015t0001g0001	8	328	0.0244	9	c.-34 others(20): Show c.-3437_-3436insCAGCAGCAG	ELMO3	ENSG00000102890.16	transcript	ENST00000393997.8	protein_coding		3240		chr16	TogoVar
ELMOD1_chr11_107586147_107671779	107599740	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01981.hp1 HG02647.hp2 others(6): Show HG01433.hp2 HG01981.hp1 HG02647.hp2 HG03927.hp1 NA18940.hp1 NA18954.hp1 NA18968.hp1 NA18969.hp1 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0011	a0001c0001t0001g0019 a0001c0001t0001g0062 a0001c0001t0002g0090 others(6): Show a0001c0001t0001g0019 a0001c0001t0001g0062 a0001c0001t0002g0090 a0001c0001t0008g0061 a0001c0002t0004g0088 a0001c0002t0005g0091 a0001c0002t0006g0011 a0001c0002t0006g0020 a0001c0002t0011g0293	9	342	0.0263	9	c.-86 others(26): Show c.-86+8334_-86+8342dupAAAAAAAAA	ELMOD1	ENSG00000110675.13	transcript	ENST00000265840.12	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
ELMOD1_chr11_107586147_107671779	107655573	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01433.hp1 HG02148.hp1 others(3): Show HG01081.hp2 HG01433.hp1 HG02148.hp1 HG02258.hp1 HG02622.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0010 others(1): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0010 a0001c0001t0028	a0001c0001t0002g0193 a0001c0001t0002g0253 a0001c0001t0009g0225 others(3): Show a0001c0001t0002g0193 a0001c0001t0002g0253 a0001c0001t0009g0225 a0001c0001t0009g0266 a0001c0001t0010g0321 a0001c0001t0028g0256	6	342	0.0175	9	c.699 others(24): Show c.699-353_699-345dupTTTTTTTTT	ELMOD1	ENSG00000110675.13	transcript	ENST00000265840.12	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
ELMOD3_chr2_85349769_85396748	85364826	T T	TATATATA others(2): Show TATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01167.hp1 HG01169.hp1 others(10): Show HG00741.hp1 HG01167.hp1 HG01169.hp1 NA18947.hp1 NA18964.hp1 NA18968.hp2 NA18973.hp1 NA18979.hp2 NA18988.hp1 NA18990.hp2 NA19005.hp1 NA19010.hp1 NA19065.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0002 a0001c0001t0001g0092 a0001c0001t0001g0125 others(6): Show a0001c0001t0001g0002 a0001c0001t0001g0092 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0036 a0002c0002t0002g0037	13	386	0.0337	9	c.199 others(26): Show c.199+1660_199+1661insATATATATA	ELMOD3	ENSG00000115459.18	transcript	ENST00000409013.8	protein_coding	6/13			chr2	TogoVar
ELOC_chr8_73940119_73977191	73951647	C C	CACAACAA others(2): Show CACAACAACA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp1 HG02055.hp1 others(13): Show HG01515.hp1 HG01517.hp1 HG02055.hp1 HG02083.hp1 HG02145.hp2 HG02572.hp1 HG02615.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG03098.hp1 HG03516.hp2 HG03540.hp1 NA18983.hp1 NA20129.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0029 a0001c0001t0001g0173 others(8): Show a0001c0001t0001g0007 a0001c0001t0001g0029 a0001c0001t0001g0173 a0001c0001t0001g0177 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0243 a0001c0001t0001g0281 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291	16	404	0.0396	9	c.148 others(26): Show c.148+4255_148+4263dupTGTTGTTGT	ELOC	ENSG00000154582.18	transcript	ENST00000520242.6	protein_coding	3/3			chr8	TogoVar
ELOC_chr8_73940119_73977191	73975355	G G	GTTTTTTT others(2): Show GTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG01070.hp2 HG02109.hp1 others(16): Show HG00735.hp2 HG01070.hp2 HG02109.hp1 HG02698.hp2 HG02886.hp1 HG03453.hp1 HG03490.hp2 HG03492.hp1 HG03704.hp2 HG03927.hp2 HG04204.hp2 NA18946.hp1 NA18959.hp1 NA18967.hp2 NA18986.hp1 NA19000.hp1 NA19074.hp2 NA19081.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0005 a0001c0001t0001g0019 a0001c0001t0001g0020 others(13): Show a0001c0001t0001g0005 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0249 a0001c0001t0001g0257 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0288 a0001c0001t0001g0296 a0001c0001t0002g0024 a0001c0001t0002g0084 a0001c0001t0002g0100 a0001c0001t0003g0102 a0001c0001t0003g0123 a0001c0001t0003g0127 a0001c0001t0003g0135	19	404	0.0470	9	c.-33 others(20): Show c.-3338_-3330dupAAAAAAAAA	ELOC	ENSG00000154582.18	transcript	ENST00000520242.6	protein_coding		3165		chr8	TogoVar
ELOVL2_chr6_10975759_11049305	10978304	T T	TATATATA others(2): Show TATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 NA18989.hp2 NA19063.hp2 HG01256.hp1 NA18989.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0114 a0001c0001t0001g0124 a0001c0001t0001g0050 a0001c0001t0001g0114 a0001c0001t0001g0124	3	380	0.0079	9	c.54 others(20): Show c.5476_*5477insTATATATAT	ELOVL2	ENSG00000197977.4	transcript	ENST00000354666.4	protein_coding		2454		chr6	TogoVar
ELOVL6_chr4_110040846_110203615	110069131	A A	AAATAATA others(2): Show AAATAATAAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00609.hp2 HG01496.hp1 others(28): Show HG00140.hp1 HG00609.hp2 HG01496.hp1 HG01516.hp1 HG02004.hp1 HG02155.hp1 HG02559.hp1 HG02717.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02976.hp2 HG03098.hp2 HG03130.hp2 HG03453.hp2 HG03471.hp1 HG03491.hp1 HG03540.hp1 HG03540.hp2 NA18612.hp2 NA18951.hp2 NA18961.hp1 NA18966.hp1 NA18968.hp1 NA19007.hp1 NA19011.hp2 NA19030.hp2 NA19064.hp2 NA19077.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(13): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0022 a0001c0001t0025 a0001c0001t0033 a0001c0001t0058 a0001c0001t0071 a0001c0001t0073 a0001c0001t0080	a0001c0001t0001g0067 a0001c0001t0001g0144 a0001c0001t0001g0226 others(28): Show a0001c0001t0001g0067 a0001c0001t0001g0144 a0001c0001t0001g0226 a0001c0001t0001g0246 a0001c0001t0004g0139 a0001c0001t0004g0145 a0001c0001t0004g0258 a0001c0001t0004g0271 a0001c0001t0005g0005 a0001c0001t0005g0123 a0001c0001t0005g0192 a0001c0001t0006g0120 a0001c0001t0006g0130 a0001c0001t0006g0231 a0001c0001t0013g0266 a0001c0001t0013g0283 a0001c0001t0014g0014 a0001c0001t0014g0025 a0001c0001t0014g0111 a0001c0001t0015g0227 a0001c0001t0017g0223 a0001c0001t0018g0040 a0001c0001t0018g0041 a0001c0001t0018g0042 a0001c0001t0022g0105 a0001c0001t0025g0256 a0001c0001t0033g0060 a0001c0001t0058g0249 a0001c0001t0071g0075 a0001c0001t0073g0126 a0001c0001t0080g0104	31	338	0.0917	9	c.222 others(26): Show c.222-9386_222-9378dupATTATTATT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110090600	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01981.hp1 HG02148.hp2 others(8): Show HG00735.hp2 HG01981.hp1 HG02148.hp2 HG02559.hp2 HG02647.hp2 HG03516.hp1 HG03942.hp2 HG04184.hp2 NA18949.hp1 NA18961.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0016 a0001c0001t0019 a0001c0001t0034 a0001c0001t0043 a0001c0001t0062 a0001c0001t0074	a0001c0001t0001g0303 a0001c0001t0002g0032 a0001c0001t0002g0189 others(8): Show a0001c0001t0001g0303 a0001c0001t0002g0032 a0001c0001t0002g0189 a0001c0001t0005g0202 a0001c0001t0016g0098 a0001c0001t0016g0177 a0001c0001t0019g0229 a0001c0001t0034g0043 a0001c0001t0043g0038 a0001c0001t0062g0116 a0001c0001t0074g0015	11	338	0.0325	9	c.221 others(28): Show c.221+14888_221+14896dupAAAAAAAAA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110094443	A A	ATATATAT others(2): Show ATATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp1 HG00597.hp2 others(15): Show HG00544.hp2 HG00597.hp1 HG00597.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01243.hp2 HG01891.hp1 HG02083.hp1 HG02895.hp1 HG03225.hp1 HG03492.hp1 HG03516.hp1 NA18906.hp1 NA18941.hp2 NA18949.hp1 NA18992.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0018 a0001c0001t0025 a0001c0001t0032 a0001c0001t0034 a0001c0001t0052 a0001c0001t0062	a0001c0001t0001g0118 a0001c0001t0001g0168 a0001c0001t0001g0220 others(15): Show a0001c0001t0001g0118 a0001c0001t0001g0168 a0001c0001t0001g0220 a0001c0001t0001g0224 a0001c0001t0001g0232 a0001c0001t0001g0241 a0001c0001t0002g0295 a0001c0001t0002g0301 a0001c0001t0002g0332 a0001c0001t0003g0050 a0001c0001t0003g0084 a0001c0001t0009g0019 a0001c0001t0018g0153 a0001c0001t0025g0108 a0001c0001t0032g0173 a0001c0001t0034g0043 a0001c0001t0052g0191 a0001c0001t0062g0116	18	338	0.0533	9	c.221 others(28): Show c.221+11053_221+11054insATATATATA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELP2_chr18_36124899_36185557	36166319	G G	GTTTTTTT others(2): Show GTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02572.hp2 HG02647.hp1 others(4): Show HG01891.hp2 HG02572.hp2 HG02647.hp1 HG02818.hp2 HG02896.hp2 HG03209.hp1 HG04199.hp2	a0004 a0006 a0004 a0006	a0004c0004 a0006c0005 a0004c0004 a0006c0005	a0004c0004t0009 a0004c0004t0016 a0004c0004t0041 others(2): Show a0004c0004t0009 a0004c0004t0016 a0004c0004t0041 a0004c0004t0042 a0006c0005t0009	a0004c0004t0009g0268 a0004c0004t0009g0275 a0004c0004t0016g0272 others(4): Show a0004c0004t0009g0268 a0004c0004t0009g0275 a0004c0004t0016g0272 a0004c0004t0016g0276 a0004c0004t0041g0279 a0004c0004t0042g0264 a0006c0005t0009g0270	7	378	0.0185	9	c.195 others(26): Show c.1955-762_1955-754dupTTTTTTTTT	ELP2	ENSG00000134759.14	transcript	ENST00000358232.11	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr18	TogoVar
ELP4_chr11_31504767_31795324	31593227	C C	CTGTTGTT others(2): Show CTGTTGTTGT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00738.hp1 HG01123.hp2 others(48): Show HG00323.hp2 HG00738.hp1 HG01123.hp2 HG01258.hp1 HG01433.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG02055.hp2 HG02056.hp2 HG02080.hp1 HG02132.hp2 HG02148.hp1 HG02257.hp2 HG02300.hp2 HG02630.hp2 HG02647.hp1 HG02698.hp2 HG02809.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03540.hp1 HG04199.hp2 NA18906.hp2 NA18941.hp2 NA18943.hp1 NA18946.hp1 NA18960.hp1 NA18970.hp1 NA18987.hp1 NA18990.hp2 NA18994.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19066.hp2 NA19079.hp1 NA19082.hp1 NA19084.hp1 NA20129.hp1 NA21309.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0005c0006 a0006c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(24): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0027 a0001c0001t0038 a0001c0001t0049 a0001c0001t0050 a0001c0001t0055 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0068 a0001c0001t0069 a0001c0001t0077 a0001c0002t0024 a0001c0002t0044 a0001c0002t0045 a0002c0003t0001 a0005c0006t0032 a0006c0004t0076	a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0032 others(48): Show a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0076 a0001c0001t0001g0082 a0001c0001t0001g0255 a0001c0001t0001g0258 a0001c0001t0004g0017 a0001c0001t0004g0026 a0001c0001t0004g0071 a0001c0001t0005g0029 a0001c0001t0005g0061 a0001c0001t0005g0067 a0001c0001t0006g0231 a0001c0001t0007g0014 a0001c0001t0007g0054 a0001c0001t0008g0092 a0001c0001t0012g0035 a0001c0001t0012g0038 a0001c0001t0018g0013 a0001c0001t0019g0084 a0001c0001t0019g0095 a0001c0001t0020g0228 a0001c0001t0020g0242 a0001c0001t0027g0050 a0001c0001t0038g0053 a0001c0001t0049g0262 a0001c0001t0050g0235 a0001c0001t0055g0083 a0001c0001t0063g0047 a0001c0001t0064g0239 a0001c0001t0065g0030 a0001c0001t0068g0039 a0001c0001t0069g0080 a0001c0001t0077g0008 a0001c0002t0024g0244 a0001c0002t0044g0226 a0001c0002t0045g0245 a0002c0003t0001g0093 a0002c0003t0001g0094 a0002c0003t0001g0096 a0005c0006t0032g0253 a0006c0004t0076g0063	51	270	0.1889	9	c.382 others(26): Show c.382-1508_382-1500dupGTTGTTGTT	ELP4	ENSG00000109911.19	transcript	ENST00000640961.2	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
ELP6_chr3_47490640_47518712	47514055	T T	TTTATTAT others(2): Show TTTATTATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(119): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00438.hp2 HG00609.hp1 HG00642.hp2 HG00741.hp2 HG01069.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG01928.hp1 HG01934.hp2 HG01975.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02135.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02451.hp1 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02630.hp1 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02886.hp2 HG03017.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03492.hp2 HG03516.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18943.hp1 NA18943.hp2 NA18954.hp1 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18973.hp1 NA18980.hp2 NA18983.hp1 NA18985.hp1 NA18988.hp1 NA18988.hp2 NA18997.hp2 NA19000.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19054.hp1 NA19063.hp1 NA19066.hp1 NA19070.hp1 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19080.hp2 NA19081.hp1 NA19082.hp2 NA19083.hp1 NA19084.hp1 NA19085.hp1 NA19090.hp2 NA19240.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0003c0003t0002	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(70): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0017 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0060 a0001c0001t0002g0063 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0073 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0092 a0001c0001t0003g0007 a0001c0001t0003g0032 a0001c0001t0003g0094 a0001c0001t0003g0101 a0001c0001t0004g0069 a0001c0001t0005g0144 a0003c0003t0002g0068	122	374	0.3262	9	c.-46 others(18): Show c.-466_-465insTAATAATAA	ELP6	ENSG00000163832.16	transcript	ENST00000296149.9	protein_coding		344		chr3	TogoVar
EMC1_chr1_19210660_19256524	19245627	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00408.hp2 others(139): Show HG00140.hp1 HG00280.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00738.hp1 HG00738.hp2 HG01099.hp1 HG01109.hp1 HG01168.hp2 HG01169.hp2 HG01255.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG02015.hp2 HG02055.hp2 HG02074.hp1 HG02083.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp2 HG02523.hp2 HG02572.hp2 HG02602.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03195.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG04115.hp1 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18906.hp1 NA18939.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18947.hp2 NA18948.hp1 NA18953.hp1 NA18954.hp2 NA18959.hp2 NA18961.hp2 NA18964.hp1 NA18966.hp1 NA18967.hp2 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18991.hp2 NA18992.hp2 NA18994.hp2 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19004.hp2 NA19007.hp1 NA19011.hp1 NA19012.hp2 NA19057.hp2 NA19058.hp2 NA19063.hp2 NA19064.hp2 NA19066.hp1 NA19068.hp2 NA19076.hp1 NA19077.hp1 NA19080.hp1 NA19081.hp2 NA19082.hp1 NA19088.hp1 NA19089.hp1 NA19090.hp1 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20905.hp1	a0001 a0003 a0008 others(2): Show a0001 a0003 a0008 a0012 a0013	a0001c0001 a0001c0006 a0001c0015 others(5): Show a0001c0001 a0001c0006 a0001c0015 a0001c0017 a0003c0003 a0008c0020 a0012c0014 a0013c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0021 a0001c0001t0024 a0001c0001t0029 a0001c0006t0001 a0001c0006t0003 a0001c0006t0025 a0001c0015t0020 a0001c0017t0002 a0003c0003t0009 a0003c0003t0013 a0008c0020t0002 a0012c0014t0002 a0013c0016t0001	a0001c0001t0001g0022 a0001c0001t0001g0046 a0001c0001t0001g0048 others(95): Show a0001c0001t0001g0022 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0082 a0001c0001t0001g0095 a0001c0001t0001g0168 a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0026 a0001c0001t0002g0043 a0001c0001t0002g0054 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0073 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0094 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0122 a0001c0001t0002g0125 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0133 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0141 a0001c0001t0002g0166 a0001c0001t0002g0184 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0196 a0001c0001t0002g0229 a0001c0001t0003g0123 a0001c0001t0003g0195 a0001c0001t0004g0062 a0001c0001t0005g0006 a0001c0001t0005g0036 a0001c0001t0005g0041 a0001c0001t0005g0088 a0001c0001t0005g0129 a0001c0001t0005g0140 a0001c0001t0008g0111 a0001c0001t0008g0126 a0001c0001t0008g0167 a0001c0001t0008g0193 a0001c0001t0008g0197 a0001c0001t0010g0035 a0001c0001t0010g0132 a0001c0001t0010g0134 a0001c0001t0014g0112 a0001c0001t0014g0121 a0001c0001t0015g0074 a0001c0001t0015g0194 a0001c0001t0016g0027 a0001c0001t0021g0096 a0001c0001t0024g0138 a0001c0001t0029g0047 a0001c0006t0001g0067 a0001c0006t0001g0068 a0001c0006t0001g0089 a0001c0006t0003g0021 a0001c0006t0003g0069 a0001c0006t0003g0090 a0001c0006t0003g0092 a0001c0006t0025g0091 a0001c0015t0020g0124 a0001c0017t0002g0108 a0003c0003t0009g0017 a0003c0003t0009g0239 a0003c0003t0009g0242 a0003c0003t0013g0106 a0003c0003t0013g0234 a0008c0020t0002g0198 a0012c0014t0002g0120 a0013c0016t0001g0051	142	350	0.4057	9	c.96- others(22): Show c.96-606_96-598dupAAAAAAAAA	EMC1	ENSG00000127463.16	transcript	ENST00000477853.6	protein_coding	1/22			chr1	TogoVar
EMC7_chr15_34079017_34106862	34093823	A A	ATTTTTTT others(2): Show ATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01255.hp1 HG02071.hp2 others(16): Show HG00642.hp2 HG01255.hp1 HG02071.hp2 HG02280.hp1 HG02451.hp2 HG02572.hp1 HG02630.hp2 HG03098.hp1 HG03471.hp2 HG03516.hp1 HG03579.hp1 HG03831.hp1 HG04199.hp2 HG04204.hp1 NA18988.hp1 NA19059.hp2 NA19083.hp1 NA19090.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0067 a0001c0001t0001g0262 a0001c0001t0001g0271 others(16): Show a0001c0001t0001g0067 a0001c0001t0001g0262 a0001c0001t0001g0271 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0329 a0001c0002t0001g0046	19	410	0.0463	9	c.356 others(26): Show c.356+2063_356+2071dupAAAAAAAAA	EMC7	ENSG00000134153.10	transcript	ENST00000256545.9	protein_coding	2/4			chr15	TogoVar
EMCN_chr4_100390341_100523022	100473365	G G	GTTTTTTT others(2): Show GTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01257.hp2 HG01258.hp1 others(4): Show HG00741.hp2 HG01257.hp2 HG01258.hp1 HG01981.hp2 HG02004.hp2 NA20129.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0001 a0001c0001t0002g0010 a0001c0001t0002g0033 others(3): Show a0001c0001t0002g0001 a0001c0001t0002g0010 a0001c0001t0002g0033 a0001c0001t0002g0037 a0001c0001t0002g0161 a0002c0002t0001g0146	7	262	0.0267	9	c.259 others(26): Show c.259+1672_259+1673insAAAAAAAAA	EMCN	ENSG00000164035.10	transcript	ENST00000296420.9	protein_coding	3/11			chr4	TogoVar
EMD_chrX_154374295_154386523	154375871	C C	CAAAAAAA others(2): Show CAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02559.hp1 HG03195.hp1 others(1): Show HG02145.hp1 HG02559.hp1 HG03195.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	4	284	0.0141	9	c.-36 others(20): Show c.-3614_-3613insAAAAAAAAA	EMD	ENSG00000102119.12	transcript	ENST00000369842.9	protein_coding		3423		chrX	TogoVar
EMID1_chr22_29200896_29264597	29250733	A A	ATTTTTTT others(2): Show ATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01167.hp1 HG01258.hp1 others(3): Show HG00733.hp2 HG01167.hp1 HG01258.hp1 HG01517.hp2 HG02886.hp2 homoSapiens_chm13v2.hp1	a0002 a0004 a0002 a0004	a0002c0001 a0004c0004 a0002c0001 a0004c0004	a0002c0001t0001 a0002c0001t0002 a0004c0004t0003 a0002c0001t0001 a0002c0001t0002 a0004c0004t0003	a0002c0001t0001g0023 a0002c0001t0001g0089 a0002c0001t0001g0141 others(3): Show a0002c0001t0001g0023 a0002c0001t0001g0089 a0002c0001t0001g0141 a0002c0001t0001g0166 a0002c0001t0002g0051 a0004c0004t0003g0306	6	348	0.0172	9	c.112 others(28): Show c.1120-3443_1120-3435dupTTTTTTTTT	EMID1	ENSG00000186998.16	transcript	ENST00000334018.11	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
EML1_chr14_99788413_99947060	99830546	C C	CTTTTTGT others(2): Show CTTTTTGTTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01074.hp1 HG01884.hp1 others(21): Show HG00609.hp2 HG01074.hp1 HG01884.hp1 HG02257.hp2 HG02486.hp2 HG02559.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02723.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02976.hp1 HG03041.hp2 HG03209.hp2 HG03453.hp2 HG03471.hp2 HG03540.hp2 HG03579.hp2 NA18522.hp2 NA20805.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0003 a0001c0004 a0001c0005 others(4): Show a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0002c0001 a0003c0002 a0004c0008	a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 others(10): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0007 a0001c0004t0003 a0001c0004t0004 a0001c0005t0005 a0001c0007t0018 a0002c0001t0001 a0003c0002t0001 a0003c0002t0008 a0004c0008t0004	a0001c0003t0001g0010 a0001c0003t0001g0163 a0001c0003t0001g0214 others(21): Show a0001c0003t0001g0010 a0001c0003t0001g0163 a0001c0003t0001g0214 a0001c0003t0001g0272 a0001c0003t0001g0273 a0001c0003t0001g0283 a0001c0003t0001g0286 a0001c0003t0002g0105 a0001c0003t0002g0106 a0001c0003t0002g0116 a0001c0003t0003g0032 a0001c0003t0003g0033 a0001c0003t0003g0034 a0001c0003t0003g0279 a0001c0003t0004g0258 a0001c0003t0007g0117 a0001c0004t0003g0280 a0001c0004t0004g0017 a0001c0005t0005g0265 a0001c0007t0018g0241 a0002c0001t0001g0239 a0003c0002t0001g0237 a0003c0002t0008g0238 a0004c0008t0004g0004	24	288	0.0833	9	c.68- others(26): Show c.68-20294_68-20286dupTTGTTTTTT	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EML1_chr14_99788413_99947060	99892986	T T	TTGGTTGT others(2): Show TTGGTTGTGG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00438.hp1 others(119): Show HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp2 HG01081.hp1 HG01109.hp1 HG01109.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01433.hp1 HG01496.hp2 HG01884.hp2 HG01928.hp2 HG01943.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02071.hp1 HG02109.hp2 HG02145.hp2 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02451.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03704.hp1 HG03927.hp1 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18947.hp1 NA18951.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18957.hp2 NA18960.hp2 NA18961.hp2 NA18966.hp1 NA18969.hp2 NA18974.hp2 NA18977.hp2 NA18983.hp2 NA18991.hp2 NA18994.hp2 NA18998.hp2 NA19002.hp2 NA19005.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19060.hp2 NA19063.hp2 NA19064.hp2 NA19066.hp1 NA19074.hp1 NA19074.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0006	a0001c0003 a0001c0004 a0001c0005 others(8): Show a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0003c0002 a0003c0010 a0003c0014 a0003c0015 a0003c0016 a0005c0009 a0006c0011	a0001c0003t0001 a0001c0003t0002 a0001c0003t0005 others(26): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0005 a0001c0003t0007 a0001c0003t0008 a0001c0004t0004 a0001c0005t0001 a0001c0005t0004 a0001c0005t0005 a0001c0005t0008 a0001c0005t0009 a0001c0007t0002 a0001c0007t0018 a0003c0002t0001 a0003c0002t0002 a0003c0002t0003 a0003c0002t0006 a0003c0002t0008 a0003c0002t0010 a0003c0002t0011 a0003c0002t0012 a0003c0002t0016 a0003c0002t0017 a0003c0010t0006 a0003c0014t0004 a0003c0015t0001 a0003c0016t0014 a0005c0009t0002 a0006c0011t0001	a0001c0003t0001g0006 a0001c0003t0001g0012 a0001c0003t0001g0080 others(118): Show a0001c0003t0001g0006 a0001c0003t0001g0012 a0001c0003t0001g0080 a0001c0003t0001g0111 a0001c0003t0001g0112 a0001c0003t0001g0113 a0001c0003t0001g0114 a0001c0003t0001g0158 a0001c0003t0001g0163 a0001c0003t0001g0167 a0001c0003t0001g0168 a0001c0003t0001g0220 a0001c0003t0001g0221 a0001c0003t0001g0225 a0001c0003t0001g0232 a0001c0003t0001g0233 a0001c0003t0001g0243 a0001c0003t0001g0244 a0001c0003t0001g0245 a0001c0003t0001g0259 a0001c0003t0001g0260 a0001c0003t0001g0272 a0001c0003t0001g0273 a0001c0003t0001g0274 a0001c0003t0001g0283 a0001c0003t0002g0116 a0001c0003t0005g0246 a0001c0003t0005g0247 a0001c0003t0007g0117 a0001c0003t0007g0281 a0001c0003t0008g0271 a0001c0004t0004g0017 a0001c0005t0001g0079 a0001c0005t0001g0250 a0001c0005t0004g0284 a0001c0005t0004g0285 a0001c0005t0005g0003 a0001c0005t0005g0097 a0001c0005t0005g0265 a0001c0005t0008g0077 a0001c0005t0009g0078 a0001c0007t0002g0005 a0001c0007t0018g0241 a0003c0002t0001g0002 a0003c0002t0001g0019 a0003c0002t0001g0036 a0003c0002t0001g0037 a0003c0002t0001g0044 a0003c0002t0001g0053 a0003c0002t0001g0054 a0003c0002t0001g0055 a0003c0002t0001g0070 a0003c0002t0001g0087 a0003c0002t0001g0094 a0003c0002t0001g0100 a0003c0002t0001g0104 a0003c0002t0001g0107 a0003c0002t0001g0124 a0003c0002t0001g0130 a0003c0002t0001g0146 a0003c0002t0001g0154 a0003c0002t0001g0161 a0003c0002t0001g0166 a0003c0002t0001g0170 a0003c0002t0001g0171 a0003c0002t0001g0172 a0003c0002t0001g0185 a0003c0002t0001g0186 a0003c0002t0001g0187 a0003c0002t0001g0190 a0003c0002t0001g0191 a0003c0002t0001g0192 a0003c0002t0001g0194 a0003c0002t0001g0198 a0003c0002t0001g0201 a0003c0002t0001g0204 a0003c0002t0001g0205 a0003c0002t0001g0207 a0003c0002t0001g0209 a0003c0002t0001g0210 a0003c0002t0001g0213 a0003c0002t0001g0215 a0003c0002t0001g0217 a0003c0002t0001g0218 a0003c0002t0001g0223 a0003c0002t0001g0237 a0003c0002t0001g0262 a0003c0002t0001g0263 a0003c0002t0001g0264 a0003c0002t0002g0050 a0003c0002t0002g0138 a0003c0002t0002g0162 a0003c0002t0002g0203 a0003c0002t0002g0211 a0003c0002t0002g0222 a0003c0002t0002g0231 a0003c0002t0003g0125 a0003c0002t0003g0155 a0003c0002t0003g0159 a0003c0002t0003g0169 a0003c0002t0003g0208 a0003c0002t0003g0212 a0003c0002t0003g0230 a0003c0002t0003g0261 a0003c0002t0006g0042 a0003c0002t0006g0043 a0003c0002t0006g0088 a0003c0002t0006g0140 a0003c0002t0006g0228 a0003c0002t0008g0238 a0003c0002t0010g0200 a0003c0002t0011g0024 a0003c0002t0012g0253 a0003c0002t0016g0202 a0003c0002t0017g0028 a0003c0010t0006g0226 a0003c0014t0004g0254 a0003c0015t0001g0013 a0003c0016t0014g0060 a0005c0009t0002g0132 a0006c0011t0001g0011	122	288	0.4236	9	c.548 others(26): Show c.548-1641_548-1633dupGGTTGTGGT	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EML1_chr14_99788413_99947060	99927869	A A	AGTGGTGG others(2): Show AGTGGTGGTG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03471.hp1 HG03579.hp2 others(2): Show HG02486.hp2 HG03471.hp1 HG03579.hp2 HG06807.hp2 NA18906.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0001c0005 a0003c0002 a0001c0003 a0001c0005 a0003c0002	a0001c0003t0001 a0001c0005t0001 a0003c0002t0001 a0001c0003t0001 a0001c0005t0001 a0003c0002t0001	a0001c0003t0001g0008 a0001c0003t0001g0010 a0001c0003t0001g0214 others(2): Show a0001c0003t0001g0008 a0001c0003t0001g0010 a0001c0003t0001g0214 a0001c0005t0001g0079 a0003c0002t0001g0130	5	288	0.0174	9	c.190 others(28): Show c.1909+6999_1909+7000insTGGTGGTGG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EML1_chr14_99788413_99947060	99927895	T T	TGGGGGTG others(2): Show TGGGGGTGGG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01123.hp2 HG01169.hp2 others(12): Show HG00735.hp1 HG01123.hp2 HG01169.hp2 HG02055.hp1 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02723.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG03098.hp1 HG03130.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0004 a0001c0005 others(2): Show a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0002c0001	a0001c0003t0001 a0001c0003t0003 a0001c0004t0004 others(4): Show a0001c0003t0001 a0001c0003t0003 a0001c0004t0004 a0001c0004t0013 a0001c0005t0004 a0001c0007t0002 a0002c0001t0002	a0001c0003t0001g0006 a0001c0003t0001g0007 a0001c0003t0001g0016 others(12): Show a0001c0003t0001g0006 a0001c0003t0001g0007 a0001c0003t0001g0016 a0001c0003t0001g0020 a0001c0003t0003g0032 a0001c0003t0003g0033 a0001c0003t0003g0034 a0001c0004t0004g0017 a0001c0004t0013g0108 a0001c0005t0004g0285 a0001c0007t0002g0005 a0002c0001t0002g0021 a0002c0001t0002g0031 a0002c0001t0002g0066 a0002c0001t0002g0129	15	288	0.0521	9	c.190 others(28): Show c.1909+7020_1909+7021insGGGTGGGGG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EML1_chr14_99788413_99947060	99927940	T T	TGGTGGTG others(2): Show TGGTGGTGGA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02273.hp2 NA18991.hp2 others(1): Show HG01109.hp1 HG02273.hp2 NA18991.hp2 NA20300.hp2	a0003 a0003	a0003c0002 a0003c0010 a0003c0002 a0003c0010	a0003c0002t0001 a0003c0002t0006 a0003c0010t0006 a0003c0002t0001 a0003c0002t0006 a0003c0010t0006	a0003c0002t0001g0223 a0003c0002t0006g0042 a0003c0002t0006g0228 others(1): Show a0003c0002t0001g0223 a0003c0002t0006g0042 a0003c0002t0006g0228 a0003c0010t0006g0226	4	288	0.0139	9	c.190 others(28): Show c.1909+7071_1909+7072insAGGTGGTGG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EML1_chr14_99788413_99947060	99928207	T T	TGGTGGTG others(2): Show TGGTGGTGGA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02109.hp1 HG02723.hp1 others(2): Show HG02055.hp1 HG02109.hp1 HG02723.hp1 HG03098.hp1 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0001 a0001c0004t0013 a0001c0003t0001 a0001c0004t0013	a0001c0003t0001g0006 a0001c0003t0001g0007 a0001c0003t0001g0016 others(2): Show a0001c0003t0001g0006 a0001c0003t0001g0007 a0001c0003t0001g0016 a0001c0003t0001g0020 a0001c0004t0013g0108	5	288	0.0174	9	c.190 others(28): Show c.1909+7331_1909+7332insGTGGTGGAG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EML2_chr19_45604400_45644397	45611499	C C	CTTCTTCT others(2): Show CTTCTTCTTA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02055.hp2 HG02280.hp2 others(9): Show HG01243.hp1 HG02055.hp2 HG02280.hp2 HG02486.hp2 HG02895.hp2 HG02896.hp1 HG02965.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03516.hp1 NA19240.hp2	a0001 a0005 a0012 a0001 a0005 a0012	a0001c0001 a0005c0005 a0012c0022 a0001c0001 a0005c0005 a0012c0022	a0001c0001t0001 a0005c0005t0001 a0012c0022t0002 a0001c0001t0001 a0005c0005t0001 a0012c0022t0002	a0001c0001t0001g0015 a0001c0001t0001g0175 a0001c0001t0001g0220 others(8): Show a0001c0001t0001g0015 a0001c0001t0001g0175 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0229 a0005c0005t0001g0333 a0012c0022t0002g0234	12	382	0.0314	9	c.182 others(28): Show c.1825-1712_1825-1711insTAAGAAGAA	EML2	ENSG00000125746.18	transcript	ENST00000245925.8	protein_coding	18/18			chr19	TogoVar

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