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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Select column to sort.

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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
EIF4G3_chr1_20801479_21181897	21075570	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(80): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00639.hp2 HG01081.hp2 HG01106.hp1 HG01109.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01928.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02109.hp1 HG02129.hp2 HG02145.hp2 HG02155.hp2 HG02258.hp1 HG02300.hp1 HG02602.hp1 HG02683.hp1 HG02809.hp2 HG03017.hp2 HG03098.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03710.hp1 HG03927.hp2 HG04184.hp1 HG04199.hp1 HG04228.hp2 NA18906.hp2 NA18943.hp2 NA18947.hp2 NA18960.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18975.hp2 NA18979.hp1 NA18982.hp1 NA18987.hp2 NA18988.hp2 NA19004.hp1 NA19005.hp1 NA19009.hp1 NA19010.hp1 NA19012.hp2 NA19057.hp2 NA19065.hp2 NA19070.hp1 NA19074.hp1 NA19077.hp1 NA19079.hp2 NA19084.hp2 NA19085.hp2 NA19089.hp2 NA19091.hp2 NA19240.hp1 NA20752.hp1 NA20805.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0003 a0004c0006 a0001c0001 a0002c0003 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0002c0003t0001 a0004c0006t0001	a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 others(80): Show a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0233 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0009 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0004g0216 a0001c0001t0004g0218 a0001c0001t0004g0219 a0001c0001t0004g0222 a0001c0001t0004g0223 a0001c0001t0004g0224 a0001c0001t0004g0225 a0001c0001t0004g0226 a0001c0001t0004g0228 a0001c0001t0004g0229 a0001c0001t0004g0231 a0001c0001t0004g0234 a0001c0001t0004g0235 a0001c0001t0010g0220 a0001c0001t0010g0232 a0001c0001t0011g0275 a0001c0001t0011g0277 a0001c0001t0011g0278 a0001c0001t0013g0033 a0001c0001t0013g0034 a0001c0001t0017g0003 a0001c0001t0018g0073 a0001c0001t0020g0023 a0001c0001t0021g0276 a0001c0001t0023g0029 a0002c0003t0001g0211 a0002c0003t0001g0212 a0002c0003t0001g0213 a0004c0006t0001g0119 a0004c0006t0001g0120	83	312	0.2660	-14	c.-19 others(35): Show c.-196+13554_-196+13567delTTTTTTTTTTTTTT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	3/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21083037	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp2 others(90): Show HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00544.hp1 HG00673.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01168.hp1 HG01169.hp1 HG01261.hp2 HG01358.hp1 HG01516.hp1 HG01517.hp1 HG01928.hp2 HG01934.hp1 HG01975.hp1 HG01993.hp1 HG02015.hp2 HG02027.hp2 HG02055.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02155.hp1 HG02300.hp2 HG02523.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02683.hp2 HG02717.hp2 HG02886.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03041.hp2 HG03195.hp2 HG03209.hp1 HG03239.hp2 HG03453.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG04115.hp1 HG04204.hp1 NA18522.hp2 NA18939.hp2 NA18942.hp2 NA18943.hp1 NA18947.hp1 NA18948.hp2 NA18950.hp2 NA18952.hp1 NA18955.hp1 NA18957.hp1 NA18960.hp1 NA18962.hp2 NA18964.hp1 NA18980.hp1 NA18982.hp2 NA18988.hp1 NA19000.hp1 NA19004.hp2 NA19005.hp2 NA19009.hp2 NA19010.hp2 NA19012.hp1 NA19030.hp1 NA19056.hp1 NA19060.hp2 NA19064.hp1 NA19074.hp2 NA19077.hp2 NA19078.hp2 NA19079.hp1 NA19084.hp1 NA19085.hp1 NA19087.hp1 NA19089.hp1 NA19090.hp2 NA20805.hp2	a0001 a0003 a0006 others(2): Show a0001 a0003 a0006 a0007 a0008	a0001c0001 a0003c0005 a0006c0008 others(2): Show a0001c0001 a0003c0005 a0006c0008 a0007c0010 a0008c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0025 a0003c0005t0001 a0006c0008t0001 a0007c0010t0001 a0008c0007t0001	a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 others(90): Show a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0153 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0003g0028 a0001c0001t0003g0240 a0001c0001t0003g0248 a0001c0001t0005g0280 a0001c0001t0005g0281 a0001c0001t0006g0012 a0001c0001t0006g0018 a0001c0001t0006g0149 a0001c0001t0006g0150 a0001c0001t0006g0151 a0001c0001t0006g0152 a0001c0001t0006g0154 a0001c0001t0006g0155 a0001c0001t0006g0164 a0001c0001t0006g0178 a0001c0001t0006g0193 a0001c0001t0008g0301 a0001c0001t0008g0303 a0001c0001t0008g0304 a0001c0001t0008g0305 a0001c0001t0010g0202 a0001c0001t0025g0302 a0003c0005t0001g0137 a0006c0008t0001g0184 a0007c0010t0001g0122 a0008c0007t0001g0191	93	312	0.2981	-14	c.-19 others(33): Show c.-196+6087_-196+6100delTTTTTTTTTTTTTT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	3/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21125771	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp2 others(155): Show HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00673.hp1 HG00673.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01928.hp2 HG01934.hp1 HG01975.hp1 HG01981.hp1 HG01993.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02280.hp1 HG02300.hp2 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp2 HG02622.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02886.hp2 HG02896.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03041.hp2 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03669.hp1 HG03669.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18522.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18942.hp2 NA18943.hp1 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp2 NA18975.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18987.hp1 NA18988.hp1 NA19000.hp1 NA19000.hp2 NA19004.hp2 NA19005.hp2 NA19009.hp2 NA19010.hp2 NA19012.hp1 NA19030.hp1 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19070.hp2 NA19074.hp2 NA19077.hp2 NA19078.hp2 NA19079.hp1 NA19084.hp1 NA19085.hp1 NA19087.hp1 NA19087.hp2 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0007 others(1): Show a0001 a0003 a0007 a0008	a0001c0001 a0001c0002 a0001c0011 others(3): Show a0001c0001 a0001c0002 a0001c0011 a0003c0005 a0007c0010 a0008c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0022 a0001c0001t0027 a0001c0002t0026 a0001c0011t0003 a0003c0005t0001 a0007c0010t0001 a0008c0007t0001	a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 others(155): Show a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0153 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0248 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0003g0253 a0001c0001t0003g0254 a0001c0001t0003g0255 a0001c0001t0003g0256 a0001c0001t0003g0257 a0001c0001t0003g0258 a0001c0001t0003g0259 a0001c0001t0003g0260 a0001c0001t0003g0261 a0001c0001t0003g0263 a0001c0001t0003g0264 a0001c0001t0003g0265 a0001c0001t0003g0266 a0001c0001t0003g0267 a0001c0001t0003g0268 a0001c0001t0003g0269 a0001c0001t0003g0270 a0001c0001t0003g0274 a0001c0001t0003g0279 a0001c0001t0005g0280 a0001c0001t0005g0281 a0001c0001t0005g0282 a0001c0001t0005g0283 a0001c0001t0005g0284 a0001c0001t0005g0285 a0001c0001t0005g0286 a0001c0001t0005g0287 a0001c0001t0005g0288 a0001c0001t0005g0289 a0001c0001t0005g0290 a0001c0001t0005g0291 a0001c0001t0005g0292 a0001c0001t0005g0293 a0001c0001t0005g0294 a0001c0001t0006g0012 a0001c0001t0006g0018 a0001c0001t0006g0149 a0001c0001t0006g0150 a0001c0001t0006g0151 a0001c0001t0006g0152 a0001c0001t0006g0154 a0001c0001t0006g0155 a0001c0001t0006g0164 a0001c0001t0006g0178 a0001c0001t0006g0193 a0001c0001t0008g0301 a0001c0001t0008g0303 a0001c0001t0008g0304 a0001c0001t0008g0305 a0001c0001t0010g0202 a0001c0001t0012g0297 a0001c0001t0012g0298 a0001c0001t0015g0308 a0001c0001t0015g0309 a0001c0001t0016g0035 a0001c0001t0022g0299 a0001c0001t0027g0307 a0001c0002t0026g0306 a0001c0011t0003g0247 a0003c0005t0001g0137 a0003c0005t0001g0156 a0007c0010t0001g0122 a0008c0007t0001g0191	158	312	0.5064	-14	c.-27 others(35): Show c.-271-36572_-271-36559delGTGTGTGTGTGTGT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	2/36			chr1	TogoVar
EIF4H_chr7_74169356_74202096	74186788	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG02027.hp1 HG02258.hp1 others(7): Show HG01515.hp1 HG02027.hp1 HG02258.hp1 HG02809.hp2 HG04204.hp1 NA18977.hp2 NA18997.hp1 NA19012.hp1 NA19064.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0039 a0001c0001t0001g0046 a0001c0001t0001g0048 others(6): Show a0001c0001t0001g0039 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0062 a0001c0001t0001g0079 a0001c0001t0001g0242 a0001c0001t0001g0259 a0001c0001t0002g0043 a0001c0001t0006g0127	10	374	0.0267	-14	c.60- others(27): Show c.60-784_60-771delTTTTTTTTTTTTTT	EIF4H	ENSG00000106682.16	transcript	ENST00000265753.13	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF4H_chr7_74169356_74202096	74198321	GTTTTTGT others(7): Show GTTTTTGTTTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02451.hp2 HG02818.hp2 HG02258.hp1 HG02451.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0043 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0043	3	374	0.0080	-14	c.30 others(25): Show c.3014_*3027delTTTTTGTTTTTTTT	EIF4H	ENSG00000106682.16	transcript	ENST00000265753.13	protein_coding		1226		chr7	TogoVar
EIF4H_chr7_74169356_74202096	74201186	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02965.hp1 HG02976.hp1 others(1): Show HG01891.hp2 HG02965.hp1 HG02976.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0047 a0001c0001t0001g0099 a0001c0001t0001g0133 others(1): Show a0001c0001t0001g0047 a0001c0001t0001g0099 a0001c0001t0001g0133 a0001c0001t0014g0025	4	374	0.0107	-14	c.58 others(25): Show c.5879_*5892delTTTTTTTTTTTTTT	EIF4H	ENSG00000106682.16	transcript	ENST00000265753.13	protein_coding		4091		chr7	TogoVar
EIPR1_chr2_3183970_3382818	3269585	CAATCATC others(7): Show CAATCATCGCACTCA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02970.hp2 HG02109.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0005 a0001c0001t0002 a0001c0002t0005	a0001c0001t0002g0174 a0001c0002t0005g0093 a0001c0001t0002g0174 a0001c0002t0005g0093	2	250	0.0080	-14	c.260 others(33): Show c.260-12144_260-12131delTGAGTGCGATGATT	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3354687	ATTATGAA others(7): Show ATTATGAAGTTAGAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(243): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18957.hp1 NA18957.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19079.hp1 NA19079.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0006t0003	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0011 others(243): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0219 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0010 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0022 a0001c0001t0002g0027 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0069 a0001c0001t0002g0073 a0001c0001t0002g0077 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0096 a0001c0001t0002g0106 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0132 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0149 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0158 a0001c0001t0002g0163 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0174 a0001c0001t0002g0183 a0001c0001t0002g0185 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0195 a0001c0001t0002g0208 a0001c0001t0002g0214 a0001c0001t0002g0220 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0015 a0001c0001t0003g0019 a0001c0001t0003g0021 a0001c0001t0003g0025 a0001c0001t0003g0028 a0001c0001t0003g0036 a0001c0001t0003g0038 a0001c0001t0003g0042 a0001c0001t0003g0063 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0070 a0001c0001t0003g0075 a0001c0001t0003g0091 a0001c0001t0003g0117 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0129 a0001c0001t0003g0131 a0001c0001t0003g0143 a0001c0001t0003g0150 a0001c0001t0003g0196 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0209 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0215 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0228 a0001c0001t0003g0230 a0001c0001t0003g0234 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0247 a0001c0001t0004g0008 a0001c0001t0004g0026 a0001c0001t0004g0050 a0001c0001t0004g0103 a0001c0001t0004g0107 a0001c0001t0004g0135 a0001c0001t0004g0136 a0001c0001t0004g0137 a0001c0001t0004g0138 a0001c0001t0004g0162 a0001c0001t0004g0173 a0001c0001t0006g0177 a0001c0001t0006g0182 a0001c0001t0006g0184 a0001c0001t0007g0249 a0001c0001t0007g0250 a0001c0001t0008g0076 a0001c0001t0009g0248 a0001c0002t0001g0092 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0002g0020 a0001c0002t0002g0116 a0001c0002t0002g0118 a0001c0002t0002g0124 a0001c0002t0002g0142 a0001c0002t0002g0181 a0001c0002t0005g0078 a0001c0002t0005g0093 a0001c0002t0005g0094 a0001c0003t0001g0095 a0001c0003t0001g0193 a0001c0004t0001g0074 a0001c0005t0001g0104 a0001c0006t0003g0203	246	250	0.9840	-14	c.43- others(25): Show c.43-68_43-55delATCTAACTTCATAA	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	1/8			chr2	TogoVar
ELAC2_chr17_12986612_13023027	13022554	TTCTTTCT others(7): Show TTCTTTCTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp1 HG01981.hp2 HG01943.hp1 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0126 a0001c0001t0001g0011 a0001c0001t0001g0126	2	400	0.0050	-14	c.-46 others(25): Show c.-4621_-4608delGAAAGAAAGAAAGA	ELAC2	ENSG00000006744.19	transcript	ENST00000338034.9	protein_coding		4528		chr17	TogoVar
ELAC2_chr17_12986612_13023027	13022604	CTTTCTTT others(7): Show CTTTCTTTCTTTCTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0022 a0004c0012t0022	a0004c0012t0022g0059 a0004c0012t0022g0059	1	400	0.0025	-14	c.-46 others(25): Show c.-4671_-4658delCAGAAAGAAAGAAA	ELAC2	ENSG00000006744.19	transcript	ENST00000338034.9	protein_coding		4578		chr17	TogoVar
ELAPOR1_chr1_109109115_109211781	109113402	GAGAGAGA others(7): Show GAGAGAGAGAGAGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0166 a0001c0002t0002g0166	1	230	0.0044	-14	c.-78 others(23): Show c.-781_-768delAGAGAGAGAGAGAA	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding		712		chr1	TogoVar
ELAPOR1_chr1_109109115_109211781	109113416	AAGAGAGA others(7): Show AAGAGAGAGAGAGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0020 a0002c0020	a0002c0020t0006 a0002c0020t0006	a0002c0020t0006g0154 a0002c0020t0006g0154	1	230	0.0044	-14	c.-76 others(23): Show c.-767_-754delAGAGAGAGAGAGAG	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding		698		chr1	TogoVar
ELAPOR1_chr1_109109115_109211781	109174413	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp2 HG03540.hp2 HG01516.hp1 HG01517.hp2 HG03540.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0008 a0002c0010t0008	a0002c0010t0008g0002 a0002c0010t0008g0003 a0002c0010t0008g0004 a0002c0010t0008g0002 a0002c0010t0008g0003 a0002c0010t0008g0004	3	230	0.0130	-14	c.952 others(29): Show c.952+598_952+611delAAAAAAAAAAAAAA	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELAPOR1_chr1_109109115_109211781	109183346	AAACAAAA others(7): Show AAACAAAAAAAAGAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp1 HG00438.hp2 others(74): Show HG00099.hp1 HG00438.hp1 HG00438.hp2 HG00733.hp1 HG00738.hp2 HG01074.hp1 HG01099.hp1 HG01106.hp1 HG01167.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01884.hp2 HG01993.hp2 HG02015.hp1 HG02071.hp2 HG02083.hp2 HG02145.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02622.hp1 HG02683.hp2 HG02717.hp2 HG02735.hp2 HG02809.hp1 HG02965.hp1 HG03098.hp1 HG03130.hp2 HG03209.hp1 HG03471.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03654.hp2 HG03704.hp1 HG04115.hp1 HG04115.hp2 NA18522.hp1 NA18948.hp1 NA18948.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp2 NA18960.hp2 NA18962.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp2 NA18977.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18986.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19043.hp1 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 NA21309.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0007 a0008	a0001c0001 a0001c0002 a0001c0024 others(7): Show a0001c0001 a0001c0002 a0001c0024 a0001c0025 a0001c0038 a0002c0003 a0004c0008 a0004c0011 a0007c0036 a0008c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0013 a0001c0001t0014 a0001c0001t0020 a0001c0001t0021 a0001c0001t0036 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0010 a0001c0002t0013 a0001c0002t0014 a0001c0002t0015 a0001c0002t0035 a0001c0002t0038 a0001c0024t0001 a0001c0025t0037 a0001c0038t0015 a0002c0003t0023 a0004c0008t0009 a0004c0011t0009 a0004c0011t0040 a0007c0036t0003 a0008c0023t0034	a0001c0001t0001g0006 a0001c0001t0001g0020 a0001c0001t0001g0023 others(74): 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 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0046 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0118 a0001c0001t0005g0013 a0001c0001t0005g0057 a0001c0001t0013g0103 a0001c0001t0014g0203 a0001c0001t0020g0117 a0001c0001t0020g0128 a0001c0001t0021g0099 a0001c0001t0021g0107 a0001c0001t0036g0063 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0152 a0001c0002t0001g0158 a0001c0002t0001g0176 a0001c0002t0001g0195 a0001c0002t0001g0199 a0001c0002t0001g0215 a0001c0002t0001g0220 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0228 a0001c0002t0003g0139 a0001c0002t0003g0145 a0001c0002t0003g0153 a0001c0002t0003g0167 a0001c0002t0003g0182 a0001c0002t0003g0196 a0001c0002t0003g0201 a0001c0002t0005g0190 a0001c0002t0010g0211 a0001c0002t0013g0219 a0001c0002t0014g0159 a0001c0002t0015g0218 a0001c0002t0035g0161 a0001c0002t0038g0144 a0001c0024t0001g0096 a0001c0025t0037g0102 a0001c0038t0015g0214 a0002c0003t0023g0213 a0004c0008t0009g0065 a0004c0008t0009g0125 a0004c0008t0009g0126 a0004c0011t0009g0163 a0004c0011t0040g0173 a0007c0036t0003g0162 a0008c0023t0034g0054	77	230	0.3348	-14	c.953 others(31): Show c.953-1697_953-1684delACAAAAAAAAGAGA	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELAPOR2_chr7_86871906_87064654	86908150	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02630.hp2 HG02809.hp1 others(3): Show HG00639.hp2 HG02630.hp2 HG02809.hp1 HG02965.hp2 HG03130.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 others(3): Show a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0151	6	196	0.0306	-14	c.245 others(31): Show c.2456+283_2456+296delGTGTGTGTGTGTGT	ELAPOR2	ENSG00000164659.15	transcript	ENST00000450689.7	protein_coding	17/21			chr7	TogoVar
ELAVL2_chr9_23685104_23831240	23699812	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG03017.hp2 HG02148.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0225 a0001c0001t0003g0173 a0001c0001t0001g0225 a0001c0001t0003g0173	2	352	0.0057	-14	c.713 others(31): Show c.713+1553_713+1566delAAAAAAAAAAAAAA	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	5/6			chr9	TogoVar
ELAVL2_chr9_23685104_23831240	23779979	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0065 a0001c0001t0003g0065	1	352	0.0028	-14	c.-15 others(33): Show c.-15-17744_-15-17731delTTTTTTTTTTTTTT	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	1/6			chr9	TogoVar
ELAVL3_chr19_11446326_11486046	11461125	GCTATGAT others(7): Show GCTATGATCACACCA	G G	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0073 a0001c0003t0073	a0001c0003t0073g0068 a0001c0003t0073g0068	1	318	0.0031	-14	c.334 others(31): Show c.334-2528_334-2515delTGGTGTGATCATAG	ELAVL3	ENSG00000196361.10	transcript	ENST00000359227.8	protein_coding	3/6			chr19	TogoVar
ELAVL4_chr1_50103920_50208772	50119080	GAAAGAAA others(7): Show GAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG03516.hp1 HG02273.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0100 a0001c0001t0006g0101 a0001c0001t0002g0100 a0001c0001t0006g0101	2	276	0.0073	-14	c.9+9 others(27): Show c.9+9890_9+9903delGAAAGAAAAAGAAA	ELAVL4	ENSG00000162374.18	transcript	ENST00000371824.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELAVL4_chr1_50103920_50208772	50175387	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	276	0.0036	-14	c.251 others(31): Show c.251-1679_251-1666delACACACACACACAC	ELAVL4	ENSG00000162374.18	transcript	ENST00000371824.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELAVL4_chr1_50103920_50208772	50192519	GCACACAC others(7): Show GCACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0146 a0001c0002t0001g0146	1	276	0.0036	-14	c.355 others(31): Show c.355-1214_355-1201delACACACACACACAC	ELAVL4	ENSG00000162374.18	transcript	ENST00000371824.7	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELF1_chr13_40926924_41024316	41000237	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03834.hp2 NA18612.hp1 NA18950.hp1 others(7): Show HG03834.hp2 NA18612.hp1 NA18950.hp1 NA18960.hp1 NA18966.hp1 NA18970.hp1 NA18986.hp2 NA19001.hp2 NA19004.hp1 NA19082.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0132 a0001c0005t0003g0166 a0001c0005t0003g0341 others(7): Show a0001c0005t0003g0132 a0001c0005t0003g0166 a0001c0005t0003g0341 a0001c0005t0003g0342 a0001c0005t0003g0343 a0001c0005t0003g0344 a0001c0005t0003g0345 a0001c0005t0003g0346 a0001c0005t0003g0347 a0001c0005t0003g0348	10	362	0.0276	-14	c.-22 others(35): Show c.-228-17969_-228-17956delAAAAAAAAAAAAAA	ELF1	ENSG00000120690.16	transcript	ENST00000239882.7	protein_coding	1/8			chr13	TogoVar
ELF1_chr13_40926924_41024316	41016914	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19087.hp1 NA19083.hp2 NA19087.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0001 a0005c0007t0001 a0001c0001t0001 a0005c0007t0001	a0001c0001t0001g0070 a0005c0007t0001g0079 a0001c0001t0001g0070 a0005c0007t0001g0079	2	362	0.0055	-14	c.-22 others(33): Show c.-229+2300_-229+2313delTTTTTTTTTTTTTT	ELF1	ENSG00000120690.16	transcript	ENST00000239882.7	protein_coding	1/8			chr13	TogoVar
ELF1_chr13_40926924_41024316	41016935	AAAAAAAA others(7): Show AAAAAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0335 a0001c0001t0001g0335	1	362	0.0028	-14	c.-22 others(33): Show c.-229+2279_-229+2292delATTTTTTTTTTTTT	ELF1	ENSG00000120690.16	transcript	ENST00000239882.7	protein_coding	1/8			chr13	TogoVar
ELF1_chr13_40926924_41024316	41016943	AAAAAATA others(7): Show AAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0319 a0002c0002t0002g0319	1	362	0.0028	-14	c.-22 others(33): Show c.-229+2271_-229+2284delATATATATATTTTT	ELF1	ENSG00000120690.16	transcript	ENST00000239882.7	protein_coding	1/8			chr13	TogoVar
ELF4_chrX_130058955_130115497	130102874	GAGAGAGA others(7): Show GAGAGAGAGAGAGAA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01074.hp1 HG01255.hp1 others(4): Show HG00735.hp1 HG01074.hp1 HG01255.hp1 HG01943.hp1 HG01952.hp1 NA18997.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0002t0004 a0001c0002t0006	a0001c0001t0001g0136 a0001c0001t0004g0145 a0001c0001t0007g0081 others(4): Show a0001c0001t0001g0136 a0001c0001t0004g0145 a0001c0001t0007g0081 a0001c0002t0004g0140 a0001c0002t0006g0137 a0001c0002t0006g0138 a0001c0002t0006g0139	7	274	0.0256	-14	c.-21 others(33): Show c.-210+7437_-210+7450delTTCTCTCTCTCTCT	ELF4	ENSG00000102034.18	transcript	ENST00000308167.10	protein_coding	1/8			chrX	TogoVar
ELF4_chrX_130058955_130115497	130105854	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02257.hp2 HG02486.hp1 others(2): Show HG01243.hp1 HG02257.hp2 HG02486.hp1 HG02630.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0021 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0021 a0001c0001t0025 a0001c0001t0030	a0001c0001t0001g0235 a0001c0001t0003g0246 a0001c0001t0021g0245 others(2): Show a0001c0001t0001g0235 a0001c0001t0003g0246 a0001c0001t0021g0245 a0001c0001t0025g0268 a0001c0001t0030g0247	5	274	0.0183	-14	c.-21 others(33): Show c.-210+4457_-210+4470delCACACACACACACA	ELF4	ENSG00000102034.18	transcript	ENST00000308167.10	protein_coding	1/8			chrX	TogoVar
ELF5_chr11_34473791_34518794	34474653	AACTCCAT others(7): Show AACTCCATCTTAGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01891.hp2 HG02258.hp2 others(17): Show HG01884.hp2 HG01891.hp2 HG02258.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02809.hp1 HG02922.hp2 HG03098.hp2 HG03471.hp2 NA18949.hp1 NA18952.hp2 NA18955.hp2 NA18971.hp2 NA19004.hp2 NA19056.hp2 NA19086.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0003c0004t0008	a0001c0001t0002g0237 a0001c0001t0002g0326 a0001c0001t0003g0228 others(14): Show a0001c0001t0002g0237 a0001c0001t0002g0326 a0001c0001t0003g0228 a0001c0001t0003g0287 a0001c0001t0007g0136 a0001c0001t0007g0224 a0001c0001t0007g0230 a0001c0001t0007g0254 a0001c0001t0007g0272 a0001c0001t0007g0273 a0001c0001t0007g0309 a0001c0001t0007g0314 a0001c0001t0008g0009 a0001c0001t0008g0160 a0001c0001t0008g0208 a0001c0001t0011g0318 a0003c0004t0008g0127	20	436	0.0459	-14	c.55 others(25): Show c.5551_*5564delCTCTAAGATGGAGT	ELF5	ENSG00000135374.11	transcript	ENST00000257832.7	protein_coding		4137		chr11	TogoVar
ELF5_chr11_34473791_34518794	34484472	CACTATAC others(7): Show CACTATACTAACTAT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01106.hp2 HG01175.hp1 others(13): Show HG00544.hp1 HG01106.hp2 HG01175.hp1 HG02040.hp2 HG03225.hp2 NA18949.hp2 NA18970.hp1 NA18980.hp2 NA18984.hp2 NA18990.hp1 NA19066.hp1 NA19068.hp1 NA19074.hp1 NA19079.hp1 NA19087.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0001 a0001c0001t0005 a0001c0001t0006	a0001c0001t0001g0008 a0001c0001t0001g0064 a0001c0001t0001g0128 others(10): Show a0001c0001t0001g0008 a0001c0001t0001g0064 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0182 a0001c0001t0001g0288 a0001c0001t0001g0299 a0001c0001t0001g0303 a0001c0001t0001g0329 a0001c0001t0001g0332 a0001c0001t0005g0190 a0001c0001t0006g0079	16	436	0.0367	-14	c.407 others(31): Show c.407-1987_407-1974delATAGTTAGTATAGT	ELF5	ENSG00000135374.11	transcript	ENST00000257832.7	protein_coding	4/6			chr11	TogoVar
ELF5_chr11_34473791_34518794	34508505	AAAAAAAT others(7): Show AAAAAAATAAAAAAT	A A	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0267	1	436	0.0023	-14	c.-4- others(29): Show c.-4-2766_-4-2753delATTTTTTATTTTTT	ELF5	ENSG00000135374.11	transcript	ENST00000257832.7	protein_coding	1/6			chr11	TogoVar
ELF5_chr11_34473791_34518794	34516667	TCACAATT others(7): Show TCACAATTATCGTGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02717.hp2 HG02055.hp1 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0017 a0001c0001t0005 a0001c0001t0017	a0001c0001t0005g0319 a0001c0001t0017g0320 a0001c0001t0005g0319 a0001c0001t0017g0320	2	436	0.0046	-14	c.-30 others(25): Show c.-3009_-2996delCCACGATAATTGTG	ELF5	ENSG00000135374.11	transcript	ENST00000257832.7	protein_coding		2874		chr11	TogoVar
ELFN1_chr7_1665277_1752946	1711575	TGAGAGAG others(7): Show TGAGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02602.hp2 HG03688.hp1 HG01074.hp2 HG02602.hp2 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0022 a0001c0002t0004 a0001c0001t0001 a0001c0001t0022 a0001c0002t0004	a0001c0001t0001g0177 a0001c0001t0022g0073 a0001c0002t0004g0262 a0001c0001t0001g0177 a0001c0001t0022g0073 a0001c0002t0004g0262	3	302	0.0099	-14	c.-29 others(33): Show c.-294+2362_-294+2375delGAGAGAGAGAGAGA	ELFN1	ENSG00000225968.8	transcript	ENST00000424383.5	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
ELK3_chr12_96189375_96274824	96222370	CACCAGAG others(7): Show CACCAGAGTTGAAGG	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00438.hp1 others(130): Show HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01106.hp2 HG01123.hp2 HG01175.hp1 HG01243.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02486.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02922.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03139.hp2 HG03209.hp2 HG03239.hp2 HG03471.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03654.hp2 HG03704.hp2 HG03831.hp1 HG04204.hp1 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp2 NA18941.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18972.hp2 NA18975.hp2 NA18977.hp2 NA18982.hp2 NA18989.hp2 NA18994.hp1 NA18999.hp2 NA19000.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp2 NA19007.hp1 NA19009.hp2 NA19012.hp2 NA19056.hp1 NA19057.hp1 NA19060.hp2 NA19063.hp2 NA19065.hp1 NA19066.hp1 NA19068.hp2 NA19075.hp1 NA19077.hp1 NA19081.hp2 NA19085.hp1 NA19086.hp2 NA19088.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0001c0005 others(4): Show a0001c0001 a0001c0004 a0001c0005 a0001c0008 a0001c0011 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0014 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0023 a0001c0004t0001 a0001c0005t0002 a0001c0008t0001 a0001c0011t0001 a0002c0002t0002 a0003c0003t0001	a0001c0001t0001g0004 a0001c0001t0001g0026 a0001c0001t0001g0061 others(127): Show a0001c0001t0001g0004 a0001c0001t0001g0026 a0001c0001t0001g0061 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0132 a0001c0001t0001g0149 a0001c0001t0001g0174 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0260 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0283 a0001c0001t0001g0293 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0346 a0001c0001t0002g0007 a0001c0001t0002g0078 a0001c0001t0002g0087 a0001c0001t0002g0218 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0328 a0001c0001t0002g0332 a0001c0001t0002g0334 a0001c0001t0002g0339 a0001c0001t0003g0076 a0001c0001t0004g0212 a0001c0001t0005g0006 a0001c0001t0005g0024 a0001c0001t0005g0095 a0001c0001t0005g0193 a0001c0001t0005g0194 a0001c0001t0005g0195 a0001c0001t0005g0196 a0001c0001t0005g0197 a0001c0001t0005g0198 a0001c0001t0005g0238 a0001c0001t0005g0261 a0001c0001t0005g0262 a0001c0001t0005g0271 a0001c0001t0005g0272 a0001c0001t0005g0290 a0001c0001t0005g0338 a0001c0001t0005g0340 a0001c0001t0005g0341 a0001c0001t0005g0342 a0001c0001t0006g0190 a0001c0001t0006g0204 a0001c0001t0006g0208 a0001c0001t0006g0209 a0001c0001t0006g0210 a0001c0001t0006g0219 a0001c0001t0006g0220 a0001c0001t0006g0274 a0001c0001t0007g0211 a0001c0001t0010g0119 a0001c0001t0010g0234 a0001c0001t0010g0254 a0001c0001t0010g0258 a0001c0001t0014g0231 a0001c0001t0016g0214 a0001c0001t0018g0250 a0001c0001t0019g0086 a0001c0001t0023g0239 a0001c0004t0001g0189 a0001c0005t0002g0335 a0001c0008t0001g0281 a0001c0011t0001g0222 a0002c0002t0002g0094 a0002c0002t0002g0191 a0002c0002t0002g0221 a0002c0002t0002g0227 a0002c0002t0002g0259 a0003c0003t0001g0246 a0003c0003t0001g0247	133	354	0.3757	-14	c.-2- others(29): Show c.-2-1193_-2-1180delCCAGAGTTGAAGGA	ELK3	ENSG00000111145.8	transcript	ENST00000228741.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
ELK3_chr12_96189375_96274824	96271490	TGTGTGTG others(7): Show TGTGTGTGTGTGTGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp1 NA19054.hp1 NA19066.hp2 others(1): Show NA18975.hp1 NA19054.hp1 NA19066.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0294 a0001c0001t0002g0313 a0001c0001t0002g0314 others(1): Show a0001c0001t0002g0294 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0316	4	354	0.0113	-14	c.43 others(25): Show c.4311_*4324delGTGTGTGTGTGTGC	ELK3	ENSG00000111145.8	transcript	ENST00000228741.8	protein_coding		1667		chr12	TogoVar
ELL2_chr5_95880098_95966851	95950898	GTATGTGT others(7): Show GTATGTGTATATATA	G G	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01891.hp1 HG01928.hp1 others(33): Show HG00673.hp1 HG01891.hp1 HG01928.hp1 HG02015.hp1 HG02056.hp1 HG02074.hp1 HG02080.hp2 HG02155.hp2 HG02523.hp1 HG03130.hp2 HG03239.hp2 HG03710.hp2 HG03831.hp2 HG04204.hp2 NA18612.hp2 NA18941.hp2 NA18946.hp2 NA18951.hp1 NA18953.hp2 NA18954.hp1 NA18965.hp2 NA18973.hp1 NA18977.hp1 NA18998.hp1 NA19001.hp2 NA19006.hp1 NA19043.hp2 NA19057.hp1 NA19058.hp1 NA19060.hp1 NA19063.hp2 NA19068.hp2 NA19072.hp1 NA19075.hp1 NA19086.hp2 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0007 a0002c0002t0001 a0002c0002t0002 others(2): Show a0001c0003t0007 a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0002c0002t0019	a0001c0003t0007g0017 a0002c0002t0001g0001 a0002c0002t0001g0060 others(31): Show a0001c0003t0007g0017 a0002c0002t0001g0001 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0082 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0139 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0147 a0002c0002t0001g0149 a0002c0002t0001g0151 a0002c0002t0002g0083 a0002c0002t0002g0136 a0002c0002t0002g0137 a0002c0002t0006g0059 a0002c0002t0006g0090 a0002c0002t0019g0094	36	314	0.1147	-14	c.148 others(31): Show c.148-7863_148-7850delTATATATACACATA	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	1/11			chr5	TogoVar
ELL2_chr5_95880098_95966851	95950902	GTGTATAT others(7): Show GTGTATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01975.hp1 HG02622.hp2 others(15): Show HG00609.hp1 HG01975.hp1 HG02622.hp2 HG03041.hp2 HG03491.hp2 HG03492.hp2 NA18941.hp1 NA18951.hp2 NA18961.hp2 NA18966.hp2 NA18975.hp1 NA18981.hp1 NA18985.hp2 NA18989.hp1 NA19009.hp1 NA19011.hp2 NA19063.hp1 NA19070.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0006 a0001c0003 a0001c0005 a0001c0006	a0001c0003t0004 a0001c0005t0010 a0001c0006t0004 others(1): Show a0001c0003t0004 a0001c0005t0010 a0001c0006t0004 a0001c0006t0011	a0001c0003t0004g0003 a0001c0003t0004g0004 a0001c0003t0004g0005 others(12): Show a0001c0003t0004g0003 a0001c0003t0004g0004 a0001c0003t0004g0005 a0001c0003t0004g0033 a0001c0003t0004g0041 a0001c0003t0004g0043 a0001c0003t0004g0044 a0001c0003t0004g0045 a0001c0003t0004g0046 a0001c0005t0010g0049 a0001c0005t0010g0050 a0001c0006t0004g0042 a0001c0006t0004g0047 a0001c0006t0011g0027 a0001c0006t0011g0028	18	314	0.0573	-14	c.148 others(31): Show c.148-7867_148-7854delTATATATATATACA	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	1/11			chr5	TogoVar
ELL2_chr5_95880098_95966851	95950904	GTATATAT others(7): Show GTATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01074.hp1 HG02074.hp2 others(1): Show HG01069.hp1 HG01074.hp1 HG02074.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0016 a0001c0001t0002 a0001c0001t0003 a0001c0001t0016	a0001c0001t0002g0303 a0001c0001t0003g0157 a0001c0001t0003g0159 others(1): Show a0001c0001t0002g0303 a0001c0001t0003g0157 a0001c0001t0003g0159 a0001c0001t0016g0158	4	314	0.0127	-14	c.148 others(31): Show c.148-7869_148-7856delTATATATATATATA	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	1/11			chr5	TogoVar
ELL2_chr5_95880098_95966851	95954583	CTTTTTTT others(7): Show CTTTTTTTTTTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02723.hp1 HG02818.hp2 HG02572.hp1 HG02723.hp1 HG02818.hp2	a0001 a0005 a0001 a0005	a0001c0003 a0001c0005 a0005c0011 a0001c0003 a0001c0005 a0005c0011	a0001c0003t0008 a0001c0005t0008 a0005c0011t0008 a0001c0003t0008 a0001c0005t0008 a0005c0011t0008	a0001c0003t0008g0013 a0001c0005t0008g0014 a0005c0011t0008g0012 a0001c0003t0008g0013 a0001c0005t0008g0014 a0005c0011t0008g0012	3	314	0.0096	-14	c.147 others(31): Show c.147+6978_147+6991delAGAAAAAAAAAAAA	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	1/11			chr5	TogoVar
ELL3_chr15_43767620_43781966	43778581	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp2 NA18963.hp1 NA19005.hp1 NA18612.hp2 NA18963.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0001 a0001c0001t0001 a0001c0008t0001	a0001c0001t0001g0001 a0001c0008t0001g0023 a0001c0001t0001g0001 a0001c0008t0001g0023	3	372	0.0081	-14	c.-16 others(25): Show c.-1694_-1681delTTTTTTTTTTTTTT	ELL3	ENSG00000128886.12	transcript	ENST00000319359.8	protein_coding		1616		chr15	TogoVar
ELL_chr19_18437663_18527070	18463325	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	244	0.0041	-14	c.470 others(31): Show c.470-1487_470-1474delAAAAAAAAAAAAAA	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	4/11			chr19	TogoVar
ELL_chr19_18437663_18527070	18467631	CCACACAC others(7): Show CCACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02004.hp2 HG02451.hp1 others(6): Show HG01123.hp1 HG02004.hp2 HG02451.hp1 HG02809.hp2 HG02886.hp1 HG02965.hp1 HG03041.hp2 NA18906.hp2 NA18964.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0002c0002 others(1): Show a0001c0001 a0001c0004 a0002c0002 a0003c0006	a0001c0001t0001 a0001c0004t0006 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0004t0006 a0002c0002t0001 a0003c0006t0001	a0001c0001t0001g0144 a0001c0001t0001g0195 a0001c0001t0001g0203 others(6): Show a0001c0001t0001g0144 a0001c0001t0001g0195 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0004t0006g0156 a0001c0004t0006g0157 a0001c0004t0006g0158 a0002c0002t0001g0109 a0003c0006t0001g0221	9	244	0.0369	-14	c.184 others(31): Show c.184-1727_184-1714delTGTGTGTGTGTGTG	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	2/11			chr19	TogoVar
ELL_chr19_18437663_18527070	18491249	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02572.hp1 HG02630.hp2 others(1): Show HG02257.hp2 HG02572.hp1 HG02630.hp2 HG02970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0136 a0002c0002t0001g0140 a0002c0002t0001g0141 others(1): Show a0002c0002t0001g0136 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0142	4	244	0.0164	-14	c.136 others(33): Show c.136-18381_136-18368delAAAAAAAAAAAAAA	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	1/11			chr19	TogoVar
ELL_chr19_18437663_18527070	18509591	GCGCACAT others(7): Show GCGCACATACACACA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01928.hp2 HG03654.hp1 HG01167.hp1 HG01928.hp2 HG03654.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0003c0006t0001 a0001c0001t0001 a0003c0006t0001	a0001c0001t0001g0183 a0001c0001t0001g0225 a0003c0006t0001g0226 a0001c0001t0001g0183 a0001c0001t0001g0225 a0003c0006t0001g0226	3	244	0.0123	-14	c.135 others(33): Show c.135+12316_135+12329delTGTGTGTATGTGCG	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	1/11			chr19	TogoVar
ELL_chr19_18437663_18527070	18509593	GCACATAC others(7): Show GCACATACACACACA	G G	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03041.hp2 HG03225.hp1 others(1): Show HG02970.hp1 HG03041.hp2 HG03225.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0004t0006 a0002c0002t0001 a0001c0001t0001 a0001c0004t0006 a0002c0002t0001	a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0004t0006g0156 others(1): Show a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0004t0006g0156 a0002c0002t0001g0142	4	244	0.0164	-14	c.135 others(33): Show c.135+12314_135+12327delTGTGTGTGTATGTG	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	1/11			chr19	TogoVar
ELL_chr19_18437663_18527070	18509598	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03130.hp1 HG06807.hp1 HG02818.hp2 HG03130.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0040 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0002g0040 a0001c0001t0003g0022 a0001c0001t0003g0023	3	244	0.0123	-14	c.135 others(33): Show c.135+12309_135+12322delGTGTGTGTGTGTGT	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	1/11			chr19	TogoVar
ELMO1_chr7_36847906_37453864	36953839	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG04228.hp1 HG01934.hp1 HG04228.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0002 a0001c0006t0004 a0001c0002t0002 a0001c0006t0004	a0001c0002t0002g0049 a0001c0006t0004g0058 a0001c0002t0002g0049 a0001c0006t0004g0058	2	92	0.0217	-14	c.143 others(35): Show c.1438-58836_1438-58823delCACACACACACACA	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	16/21			chr7	TogoVar
ELMO1_chr7_36847906_37453864	36970180	AACACACA others(7): Show AACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01256.hp1 HG01361.hp2 HG00741.hp1 HG01256.hp1 HG01361.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0004 a0001c0003t0008 a0001c0002t0004 a0001c0003t0008	a0001c0002t0004g0053 a0001c0003t0008g0045 a0001c0003t0008g0079 a0001c0002t0004g0053 a0001c0003t0008g0045 a0001c0003t0008g0079	3	92	0.0326	-14	c.143 others(35): Show c.1437+43105_1437+43118delGTGTGTGTGTGTGT	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	16/21			chr7	TogoVar
ELMO1_chr7_36847906_37453864	37005692	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 NA18906.hp2 HG02109.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0007 a0001c0001t0002 a0001c0002t0007	a0001c0001t0002g0002 a0001c0002t0007g0064 a0001c0001t0002g0002 a0001c0002t0007g0064	2	92	0.0217	-14	c.143 others(33): Show c.1437+7593_1437+7606delTTTTTTTTTTTTTT	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	16/21			chr7	TogoVar
ELMO1_chr7_36847906_37453864	37092366	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp2 HG02615.hp1 others(6): Show HG02055.hp1 HG02055.hp2 HG02615.hp1 HG02818.hp2 HG03098.hp2 HG03453.hp1 HG06807.hp2 NA19240.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0002t0001 a0001c0002t0007	a0001c0001t0001g0009 a0001c0001t0002g0019 a0001c0001t0002g0067 others(6): Show a0001c0001t0001g0009 a0001c0001t0002g0019 a0001c0001t0002g0067 a0001c0001t0005g0011 a0001c0001t0005g0073 a0001c0001t0008g0092 a0001c0002t0001g0070 a0001c0002t0007g0001 a0001c0002t0007g0018	9	92	0.0978	-14	c.130 others(33): Show c.1300+4239_1300+4252delAAAAAAAAAAAAAA	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	15/21			chr7	TogoVar
ELMO1_chr7_36847906_37453864	37313436	GCTGATCT others(7): Show GCTGATCTCGAACTC	G G	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03195.hp1 HG06807.hp2 HG02886.hp2 HG03195.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0017 a0001c0003t0002 a0001c0001t0002 a0001c0001t0017 a0001c0003t0002	a0001c0001t0002g0019 a0001c0001t0017g0012 a0001c0003t0002g0091 a0001c0001t0002g0019 a0001c0001t0017g0012 a0001c0003t0002g0091	3	92	0.0326	-14	c.192 others(31): Show c.192+1400_192+1413delGAGTTCGAGATCAG	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	4/21			chr7	TogoVar

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