Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
EDNRA_chr4_147476097_147549954	147532325	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0187 a0001c0002t0007g0187	1	280	0.0036	11	c.549 others(26): Show c.549-166_549-156dupAAAAAAAAAAA		EDNRA	ENSG00000151617.17	transcript	ENST00000651419.1	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr4	TogoVar
EED_chr11_86239753_86283810	86260516	A A	ACTGCACC others(4): Show ACTGCACCTGGC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(253): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00639.hp1 HG00639.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp2 NA18965.hp1 NA18967.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18993.hp2 NA18995.hp2 NA18997.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19003.hp2 NA19006.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19055.hp2 NA19058.hp2 NA19060.hp2 NA19063.hp2 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19072.hp1 NA19072.hp2 NA19074.hp2 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp1 NA19089.hp1 NA19089.hp2 NA19090.hp2 NA19091.hp1 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0002c0005 a0004c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0004t0001 a0002c0005t0001 a0004c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0016 others(201): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0003g0220 a0001c0001t0004g0231 a0001c0001t0005g0289 a0001c0001t0006g0009 a0001c0002t0001g0002 a0001c0002t0001g0005 a0001c0002t0001g0010 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0253 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0001g0260 a0001c0002t0001g0261 a0001c0002t0001g0262 a0001c0002t0001g0263 a0001c0002t0001g0264 a0001c0002t0001g0265 a0001c0002t0001g0266 a0001c0002t0001g0267 a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0001g0270 a0001c0002t0001g0271 a0001c0002t0001g0272 a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0278 a0001c0004t0001g0016 a0002c0005t0001g0037 a0004c0003t0001g0215	256	392	0.6531	11	c.634 others(28): Show c.634+2924_634+2925insACCTGGCCTGC		EED	ENSG00000074266.23	transcript	ENST00000263360.11	protein_coding	6/11					INFO_REALIGN_3_PRIME	chr11	TogoVar
EEF1A1_chr6_73510750_73526032	73524788	A A	ATATATAT others(4): Show ATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 NA18522.hp2 HG03130.hp2 NA18522.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0021 a0001c0005t0021	a0001c0005t0021g0026 a0001c0005t0021g0026	2	424	0.0047	11	c.-38 others(22): Show c.-3820_-3819insATATATATATA		EEF1A1	ENSG00000156508.19	transcript	ENST00000309268.11	protein_coding					3757		chr6	TogoVar
EEF1A1_chr6_73510750_73526032	73524788	A A	ATATATAT others(4): Show ATATATATATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	424	0.0024	11	c.-38 others(22): Show c.-3820_-3819insAAATATATATA		EEF1A1	ENSG00000156508.19	transcript	ENST00000309268.11	protein_coding					3757		chr6	TogoVar
EEF1A1_chr6_73510750_73526032	73524789	T T	TATATATA others(4): Show TATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00735.hp2 HG01106.hp2 others(7): Show HG00639.hp1 HG00735.hp2 HG01106.hp2 HG01975.hp1 HG03471.hp2 NA18947.hp2 NA18965.hp2 NA18999.hp2 NA19003.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0004t0014 a0001c0001t0003 a0001c0004t0014	a0001c0001t0003g0003 a0001c0004t0014g0048 a0001c0001t0003g0003 a0001c0004t0014g0048	10	424	0.0236	11	c.-38 others(22): Show c.-3821_-3820insTATATATATAT		EEF1A1	ENSG00000156508.19	transcript	ENST00000309268.11	protein_coding					3758		chr6	TogoVar
EEF1AKMT1_chr13_20723731_20778961	20747462	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0262 a0001c0002t0001g0262	1	348	0.0029	11	c.145 others(28): Show c.145-9668_145-9658dupAAAAAAAAAAA		EEF1AKMT1	ENSG00000150456.11	transcript	ENST00000382758.6	protein_coding	2/4						chr13	TogoVar
EEF1AKMT1_chr13_20723731_20778961	20748715	G G	GGTTTTTT others(4): Show GGTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0189 a0001c0003t0001g0189	1	348	0.0029	11	c.144 others(28): Show c.144+8739_144+8740insAAAAAAAAAAC		EEF1AKMT1	ENSG00000150456.11	transcript	ENST00000382758.6	protein_coding	2/4						chr13	TogoVar
EEF1AKMT1_chr13_20723731_20778961	20748722	T T	TTTTTGTT others(4): Show TTTTTGTTGTTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00733.hp2 others(7): Show HG00099.hp2 HG00280.hp1 HG00733.hp2 HG01256.hp1 HG01361.hp2 HG01516.hp2 HG01517.hp1 HG02486.hp2 HG03239.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0024 a0001c0001t0001g0113 others(6): Show a0001c0001t0001g0008 a0001c0001t0001g0024 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0121	10	348	0.0287	11	c.144 others(28): Show c.144+8732_144+8733insCAACAACAAAA		EEF1AKMT1	ENSG00000150456.11	transcript	ENST00000382758.6	protein_coding	2/4						chr13	TogoVar
EEF1AKMT1_chr13_20723731_20778961	20748722	T T	TTTTTTTT others(4): Show TTTTTTTTGTTG	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG03688.hp1 HG03927.hp1 HG01358.hp1 HG03688.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0126	3	348	0.0086	11	c.144 others(28): Show c.144+8732_144+8733insCAACAAAAAAA		EEF1AKMT1	ENSG00000150456.11	transcript	ENST00000382758.6	protein_coding	2/4						chr13	TogoVar
EEF1AKMT1_chr13_20723731_20778961	20748723	T T	TTTTTTTT others(4): Show TTTTTTTTGTTG	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	348	0.0029	11	c.144 others(28): Show c.144+8731_144+8732insCAACAAAAAAA		EEF1AKMT1	ENSG00000150456.11	transcript	ENST00000382758.6	protein_coding	2/4						chr13	TogoVar
EEF1AKMT1_chr13_20723731_20778961	20764918	C C	CACACACA others(4): Show CACACACACACA	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0327 a0001c0001t0001g0327	1	348	0.0029	11	c.-19 others(28): Show c.-19-7302_-19-7301insTGTGTGTGTGT		EEF1AKMT1	ENSG00000150456.11	transcript	ENST00000382758.6	protein_coding	1/4						chr13	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124769218	C C	CACAAAAA others(4): Show CACAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01361.hp2 HG03710.hp1 HG00099.hp2 HG01361.hp2 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0016 a0001c0001t0001 a0001c0001t0007 a0001c0001t0016	a0001c0001t0001g0100 a0001c0001t0007g0107 a0001c0001t0016g0117 a0001c0001t0001g0100 a0001c0001t0007g0107 a0001c0001t0016g0117	3	358	0.0084	11	c.400 others(28): Show c.400-3611_400-3610insTTTTTTTTTGT		EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	4/6						chr10	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124774406	A A	AAAAAAAA others(4): Show AAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA19001.hp2 NA18983.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0350 a0001c0001t0001g0220 a0001c0001t0001g0350	2	358	0.0056	11	c.399 others(26): Show c.399+268_399+269insCTTTTTTTTTT		EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	4/6						chr10	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124791801	A A	AGCGCCAC others(4): Show AGCGCCACCGCC	frameshift_variant frameshift_variant	HIGH	NA18970.hp1 NA18970.hp1	a0005 a0005	a0005c0003 a0005c0003	a0005c0003t0002 a0005c0003t0002	a0005c0003t0002g0015 a0005c0003t0002g0015	1	358	0.0028	11	c.22_ others(16): Show c.22_32dupGGCGGTGGCGC	p.Ala others(4): Show p.Ala15fs	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	1/7	86/3599	32/876	11/291			chr10	TogoVar
EEF1AKMT4_chr3_184244672_184263759	184256272	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp2 HG00544.hp1 others(56): Show HG00280.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG01069.hp2 HG01168.hp2 HG01884.hp1 HG01952.hp2 HG02015.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp2 HG02135.hp2 HG02615.hp1 HG02630.hp1 HG02723.hp2 HG02809.hp1 HG02886.hp1 HG02922.hp2 HG02970.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03540.hp2 HG03579.hp2 HG03710.hp2 NA18940.hp2 NA18947.hp1 NA18949.hp2 NA18957.hp1 NA18960.hp1 NA18963.hp1 NA18963.hp2 NA18969.hp1 NA18982.hp1 NA18997.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19060.hp2 NA19065.hp2 NA19070.hp1 NA19078.hp2 NA19082.hp2 NA19085.hp1 NA19090.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0054 a0001c0001t0001g0067 a0001c0001t0001g0088 others(27): Show a0001c0001t0001g0054 a0001c0001t0001g0067 a0001c0001t0001g0088 a0001c0002t0001g0003 a0001c0002t0001g0009 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0019 a0001c0002t0001g0040 a0001c0002t0001g0043 a0001c0002t0001g0047 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0055 a0001c0002t0001g0057 a0001c0002t0001g0063 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0074 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0085 a0001c0002t0001g0089 a0001c0002t0001g0093 a0001c0002t0001g0146 a0001c0002t0002g0023 a0001c0002t0002g0041	59	378	0.1561	11	c.197 others(28): Show c.197-1193_197-1183dupAAAAAAAAAAA		EEF1AKMT4	ENSG00000284753.2	transcript	ENST00000324557.9	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr3	TogoVar
EEF1AKMT4_chr3_184244672_184263759	184256272	C C	CAGAAAAA others(4): Show CAGAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0094 a0001c0008t0001g0094	1	378	0.0027	11	c.197 others(28): Show c.197-1200_197-1199insGAAAAAAAAAA		EEF1AKMT4	ENSG00000284753.2	transcript	ENST00000324557.9	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr3	TogoVar
EEF1AKMT4_chr3_184244672_184263759	184263686	A A	AGAGAGAG others(4): Show AGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG03491.hp1 HG00544.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0137 a0001c0002t0001g0009 a0001c0001t0001g0137 a0001c0002t0001g0009	2	378	0.0053	11	c.51 others(22): Show c.5111_*5112insGAGAGAGAGAG		EEF1AKMT4	ENSG00000284753.2	transcript	ENST00000324557.9	protein_coding					4928		chr3	TogoVar
EEF1B2_chr2_206154895_206167928	206165619	C C	CCAGGCGC others(4): Show CCAGGCGCGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	360	0.0028	11	c.27 others(22): Show c.2736_*2737insCAGGCGCGGTG		EEF1B2	ENSG00000114942.15	transcript	ENST00000392222.7	protein_coding					2692		chr2	TogoVar
EEF1E1_chr6_8074395_8107548	8101225	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	442	0.0023	11	c.87+ others(26): Show c.87+1199_87+1209dupTTTTTTTTTTT		EEF1E1	ENSG00000124802.12	transcript	ENST00000379715.10	protein_coding	1/3						chr6	TogoVar
EEF1E1_chr6_8074395_8107548	8101243	A A	AAAAAAAA others(4): Show AAAAAAAAATAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA19085.hp2 NA18522.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0075 a0001c0001t0001g0062 a0001c0001t0001g0075	2	442	0.0045	11	c.87+ others(26): Show c.87+1191_87+1192insATATTTTTTTT		EEF1E1	ENSG00000124802.12	transcript	ENST00000379715.10	protein_coding	1/3						chr6	TogoVar
EEF2K_chr16_22201278_22293738	22226517	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03516.hp1 HG03579.hp1 others(3): Show HG03098.hp2 HG03516.hp1 HG03579.hp1 NA18522.hp1 NA18962.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0002t0001 a0001c0001t0009 a0001c0002t0001	a0001c0001t0009g0023 a0001c0001t0009g0024 a0001c0001t0009g0025 others(3): Show a0001c0001t0009g0023 a0001c0001t0009g0024 a0001c0001t0009g0025 a0001c0001t0009g0026 a0001c0001t0009g0027 a0001c0002t0001g0214	6	290	0.0207	11	c.246 others(26): Show c.246+547_246+557dupTTTTTTTTTTT		EEF2K	ENSG00000103319.12	transcript	ENST00000263026.10	protein_coding	2/17					INFO_REALIGN_3_PRIME	chr16	TogoVar
EEF2K_chr16_22201278_22293738	22289211	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02280.hp2 HG02572.hp1 others(2): Show HG02257.hp2 HG02280.hp2 HG02572.hp1 HG03471.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0057 a0001c0001t0002g0058 others(2): Show a0001c0001t0002g0041 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0061	5	290	0.0172	11	c.52 others(22): Show c.5215_*5216insAAAAAAAAAAA		EEF2K	ENSG00000103319.12	transcript	ENST00000263026.10	protein_coding					474		chr16	TogoVar
EEF2_chr19_3971056_3990463	3978803	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA19000.hp2 HG06807.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0099 a0001c0001t0001g0100	2	403	0.0050	11	c.171 others(28): Show c.1713+515_1713+525dupTTTTTTTTTTT		EEF2	ENSG00000167658.16	transcript	ENST00000309311.7	protein_coding	11/14						chr19	TogoVar
EEFSEC_chr3_128148481_128413646	128150798	T T	TTATATAT others(4): Show TTATATATTCTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	272	0.0037	11	c.-27 others(22): Show c.-2710_-2709insTATATATTCTA		EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding					2682		chr3	TogoVar
EEFSEC_chr3_128148481_128413646	128151111	G G	GTATATAT others(4): Show GTATATATTCTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02647.hp1 HG02818.hp1 others(1): Show HG02630.hp1 HG02647.hp1 HG02818.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0002g0055 a0001c0001t0002g0056 others(1): Show a0001c0001t0001g0001 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0058	4	272	0.0147	11	c.-23 others(22): Show c.-2397_-2396insTATATATTCTA		EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding					2369		chr3	TogoVar
EEFSEC_chr3_128148481_128413646	128293660	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03017.hp2 HG03041.hp2 others(1): Show HG02717.hp2 HG03017.hp2 HG03041.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0001 a0001c0007t0001 a0001c0002t0001 a0001c0007t0001	a0001c0002t0001g0010 a0001c0002t0001g0015 a0001c0002t0001g0022 others(1): Show a0001c0002t0001g0010 a0001c0002t0001g0015 a0001c0002t0001g0022 a0001c0007t0001g0223	4	272	0.0147	11	c.786 others(30): Show c.786+28896_786+28906dupAAAAAAAAAAA		EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr3	TogoVar
EEIG1_chr9_127935582_127985989	127965106	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0050 a0001c0002t0002g0050	1	342	0.0029	11	c.147 others(30): Show c.147-11192_147-11182dupTTTTTTTTTTT		EEIG1	ENSG00000167106.12	transcript	ENST00000373095.6	protein_coding	1/10						chr9	TogoVar
EEPD1_chr7_36148254_36306538	36151852	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG01069.hp1 HG01069.hp2 others(37): Show HG00642.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01167.hp1 HG01169.hp1 HG01243.hp2 HG01515.hp2 HG01934.hp2 HG01975.hp1 HG01978.hp1 HG02155.hp2 HG02273.hp1 HG02280.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02896.hp1 HG03017.hp1 HG03017.hp2 HG03195.hp1 HG03239.hp2 HG03490.hp1 HG03834.hp1 HG04115.hp2 NA18942.hp1 NA18944.hp1 NA18960.hp2 NA18971.hp1 NA18978.hp2 NA18979.hp2 NA19009.hp2 NA19064.hp1 NA19074.hp2 NA19240.hp2 NA20752.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0005 a0003c0002 a0001c0001 a0002c0005 a0003c0002	a0001c0001t0004 a0001c0001t0008 a0001c0001t0012 others(9): Show a0001c0001t0004 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0030 a0001c0001t0033 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0002c0005t0022 a0003c0002t0021	a0001c0001t0004g0075 a0001c0001t0004g0200 a0001c0001t0004g0202 others(37): Show a0001c0001t0004g0075 a0001c0001t0004g0200 a0001c0001t0004g0202 a0001c0001t0004g0204 a0001c0001t0004g0205 a0001c0001t0004g0208 a0001c0001t0004g0215 a0001c0001t0004g0223 a0001c0001t0004g0230 a0001c0001t0004g0231 a0001c0001t0004g0240 a0001c0001t0004g0248 a0001c0001t0004g0297 a0001c0001t0008g0126 a0001c0001t0008g0143 a0001c0001t0008g0206 a0001c0001t0008g0214 a0001c0001t0008g0216 a0001c0001t0008g0236 a0001c0001t0012g0185 a0001c0001t0012g0186 a0001c0001t0012g0217 a0001c0001t0013g0203 a0001c0001t0013g0218 a0001c0001t0013g0220 a0001c0001t0013g0222 a0001c0001t0013g0235 a0001c0001t0015g0245 a0001c0001t0015g0246 a0001c0001t0015g0247 a0001c0001t0030g0209 a0001c0001t0030g0219 a0001c0001t0033g0232 a0001c0001t0048g0063 a0001c0001t0049g0226 a0001c0001t0050g0224 a0002c0005t0022g0210 a0003c0002t0021g0062 a0003c0002t0021g0227 a0003c0002t0021g0249	40	346	0.1156	11	c.-20 others(22): Show c.-2015_-2014insTTTTTTTTTTT		EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding					1401		chr7	TogoVar
EEPD1_chr7_36148254_36306538	36198332	A A	AAAAAAGA others(4): Show AAAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02615.hp2 HG02622.hp2 others(2): Show HG02280.hp1 HG02615.hp2 HG02622.hp2 HG03098.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0033 a0001c0004t0006 others(1): Show a0001c0001t0002 a0001c0001t0033 a0001c0004t0006 a0001c0004t0012	a0001c0001t0002g0012 a0001c0001t0033g0232 a0001c0004t0006g0013 others(2): Show a0001c0001t0002g0012 a0001c0001t0033g0232 a0001c0004t0006g0013 a0001c0004t0006g0258 a0001c0004t0012g0196	5	346	0.0145	11	c.879 others(30): Show c.879-40649_879-40648insAGAAAAGAAAA		EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr7	TogoVar
EEPD1_chr7_36148254_36306538	36248994	A A	ACACACAC others(4): Show ACACACACACAC	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA19064.hp2 HG02976.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0113 a0001c0001t0004g0191 a0001c0001t0001g0113 a0001c0001t0004g0191	2	346	0.0058	11	c.930 others(28): Show c.930+9958_930+9959insCACACACACAC		EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding	3/7						chr7	TogoVar
EFCAB10_chr7_105560124_105586493	105570240	A A	AAATATAT others(4): Show AAATATATATAT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	428	0.0023	11	c.107 others(26): Show c.107-670_107-669insATATATATATT		EFCAB10	ENSG00000185055.11	transcript	ENST00000480514.6	protein_coding	1/4						chr7	TogoVar
EFCAB11_chr14_89789669_89959730	89835643	T T	TGTGTGTG others(4): Show TGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0250 a0002c0005t0002g0250	1	284	0.0035	11	c.411 others(30): Show c.411-38320_411-38319insCACACACACAC		EFCAB11	ENSG00000140025.16	transcript	ENST00000316738.12	protein_coding	5/5						chr14	TogoVar
EFCAB11_chr14_89789669_89959730	89921072	A A	AAAAAAAA others(4): Show AAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02109.hp2 HG02258.hp2 others(10): Show HG02055.hp1 HG02109.hp2 HG02258.hp2 HG02486.hp1 HG02622.hp2 HG02717.hp1 HG02922.hp1 HG02965.hp1 HG03098.hp2 HG03225.hp1 HG03486.hp2 NA18522.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0006 a0001c0001 a0001c0004 a0001c0006	a0001c0001t0007 a0001c0004t0001 a0001c0004t0002 others(6): Show a0001c0001t0007 a0001c0004t0001 a0001c0004t0002 a0001c0004t0006 a0001c0004t0009 a0001c0004t0017 a0001c0004t0023 a0001c0004t0036 a0001c0006t0004	a0001c0001t0007g0231 a0001c0004t0001g0277 a0001c0004t0001g0278 others(10): Show a0001c0001t0007g0231 a0001c0004t0001g0277 a0001c0004t0001g0278 a0001c0004t0002g0276 a0001c0004t0002g0279 a0001c0004t0006g0280 a0001c0004t0009g0271 a0001c0004t0009g0272 a0001c0004t0009g0275 a0001c0004t0017g0281 a0001c0004t0023g0274 a0001c0004t0036g0282 a0001c0006t0004g0265	13	284	0.0458	11	c.410 others(30): Show c.410+10468_410+10469insCTTTTTTTTTT		EFCAB11	ENSG00000140025.16	transcript	ENST00000316738.12	protein_coding	5/5						chr14	TogoVar
EFCAB13_chr17_47318955_47446312	47424874	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02683.hp1 HG03017.hp2 others(1): Show HG01175.hp1 HG02683.hp1 HG03017.hp2 NA18522.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0006 a0003c0008 a0001c0001 a0001c0006 a0003c0008	a0001c0001t0001 a0001c0006t0002 a0003c0008t0004 a0001c0001t0001 a0001c0006t0002 a0003c0008t0004	a0001c0001t0001g0090 a0001c0001t0001g0201 a0001c0006t0002g0099 others(1): Show a0001c0001t0001g0090 a0001c0001t0001g0201 a0001c0006t0002g0099 a0003c0008t0004g0005	4	356	0.0112	11	c.249 others(30): Show c.2495-4928_2495-4918dupTTTTTTTTTTT		EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	23/24					INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB2_chr1_244964682_245092837	244980040	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01081.hp2 HG01099.hp2 others(21): Show HG00639.hp2 HG01081.hp2 HG01099.hp2 HG01255.hp2 HG01256.hp1 HG01496.hp1 HG01516.hp1 HG02129.hp2 HG02300.hp2 HG03017.hp2 NA18612.hp1 NA18944.hp2 NA18961.hp1 NA18969.hp1 NA18971.hp1 NA18982.hp1 NA18986.hp1 NA18998.hp2 NA19001.hp2 NA19003.hp2 NA19010.hp2 NA19077.hp1 NA19080.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0004 a0001c0001t0003 a0001c0002t0004	a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0001t0003g0005 others(21): Show a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0001t0003g0005 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0017 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0075 a0001c0001t0003g0112 a0001c0002t0004g0047 a0001c0002t0004g0048 a0001c0002t0004g0064 a0001c0002t0004g0066	24	290	0.0828	11	c.25+ others(26): Show c.25+9616_25+9626dupAAAAAAAAAAA		EFCAB2	ENSG00000203666.13	transcript	ENST00000366523.6	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr1	TogoVar
EFCAB2_chr1_244964682_245092837	245084059	T T	TCCCCCCC others(4): Show TCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0285	1	290	0.0035	11	c.373 others(26): Show c.373+373_373+374insCCCCCCCCCCC		EFCAB2	ENSG00000203666.13	transcript	ENST00000366523.6	protein_coding	7/7					INFO_REALIGN_3_PRIME	chr1	TogoVar
EFCAB5_chr17_29936634_30113452	30096677	A A	ATATATAT others(4): Show ATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02896.hp1 HG03453.hp1 HG02895.hp1 HG02896.hp1 HG03453.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0097 a0004c0004t0002g0104 a0004c0004t0002g0105 a0004c0004t0002g0097 a0004c0004t0002g0104 a0004c0004t0002g0105	3	248	0.0121	11	c.432 others(30): Show c.4321+3742_4321+3743insATATATTTTTT		EFCAB5	ENSG00000176927.16	transcript	ENST00000394835.8	protein_coding	22/22					INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB6_chr22_43523778_43817305	43586340	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01258.hp1 HG01884.hp1 others(3): Show HG00642.hp2 HG01258.hp1 HG01884.hp1 HG02896.hp2 HG03130.hp1 NA19007.hp1	a0002 a0009 a0002 a0009	a0002c0002 a0009c0011 a0002c0002 a0009c0011	a0002c0002t0001 a0002c0002t0004 a0009c0011t0001 a0002c0002t0001 a0002c0002t0004 a0009c0011t0001	a0002c0002t0001g0118 a0002c0002t0001g0121 a0002c0002t0001g0144 others(3): Show a0002c0002t0001g0118 a0002c0002t0001g0121 a0002c0002t0001g0144 a0002c0002t0001g0146 a0002c0002t0004g0289 a0009c0011t0001g0113	6	290	0.0207	11	c.303 others(30): Show c.3032+3723_3032+3733dupAAAAAAAAAAA		EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	24/31						chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43614177	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02572.hp2 HG02615.hp2 others(7): Show HG02055.hp1 HG02572.hp2 HG02615.hp2 HG02717.hp2 HG02809.hp2 HG02895.hp2 HG02896.hp2 HG02965.hp1 HG03139.hp1 HG06807.hp1	a0001 a0002 a0019 others(1): Show a0001 a0002 a0019 a0020	a0001c0001 a0002c0002 a0019c0032 others(1): Show a0001c0001 a0002c0002 a0019c0032 a0020c0025	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0019c0032t0002 a0020c0025t0002	a0001c0001t0001g0083 a0001c0001t0002g0006 a0001c0001t0002g0007 others(7): Show a0001c0001t0001g0083 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0013 a0002c0002t0001g0118 a0019c0032t0002g0012 a0020c0025t0002g0011	10	290	0.0345	11	c.256 others(30): Show c.2562+1638_2562+1648dupTTTTTTTTTTT		EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	21/31						chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43643285	G G	GACACAAG others(4): Show GACACAAGTGGT	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0032 a0032	a0032c0046 a0032c0046	a0032c0046t0001 a0032c0046t0001	a0032c0046t0001g0224 a0032c0046t0001g0224	1	290	0.0035	11	c.198 others(30): Show c.1984-8080_1984-8070dupACCACTTGTGT		EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	17/31						chr22	TogoVar
EFCAB8_chr20_32853923_32966845	32875502	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0012 a0012	a0012c0012 a0012c0012	a0012c0012t0004 a0012c0012t0004	a0012c0012t0004g0109 a0012c0012t0004g0109	1	284	0.0035	11	c.209 others(26): Show c.209-416_209-406dupTTTTTTTTTTT		EFCAB8	ENSG00000215529.13	transcript	ENST00000400522.9	protein_coding	3/26					INFO_REALIGN_3_PRIME	chr20	TogoVar
EFCAB8_chr20_32853923_32966845	32935188	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03453.hp1 HG03471.hp2 HG02145.hp1 HG03453.hp1 HG03471.hp2	a0019 a0044 a0019 a0044	a0019c0017 a0044c0046 a0019c0017 a0044c0046	a0019c0017t0007 a0044c0046t0007 a0019c0017t0007 a0044c0046t0007	a0019c0017t0007g0217 a0019c0017t0007g0228 a0044c0046t0007g0133 a0019c0017t0007g0217 a0019c0017t0007g0228 a0044c0046t0007g0133	3	284	0.0106	11	c.279 others(30): Show c.2790+3855_2790+3856insTTTTTTTTTTT		EFCAB8	ENSG00000215529.13	transcript	ENST00000400522.9	protein_coding	22/26					INFO_REALIGN_3_PRIME	chr20	TogoVar
EFCAB8_chr20_32853923_32966845	32935192	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0256 a0001c0001t0005g0256	1	284	0.0035	11	c.279 others(30): Show c.2790+3871_2790+3881dupTTTTTTTTTTT		EFCAB8	ENSG00000215529.13	transcript	ENST00000400522.9	protein_coding	22/26					INFO_REALIGN_3_PRIME	chr20	TogoVar
EFCAB8_chr20_32853923_32966845	32939200	T T	TTTCTTTC others(4): Show TTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	284	0.0035	11	c.279 others(30): Show c.2791-4433_2791-4432insTTTCTTTCTTC		EFCAB8	ENSG00000215529.13	transcript	ENST00000400522.9	protein_coding	22/26					INFO_REALIGN_3_PRIME	chr20	TogoVar
EFHB_chr3_19874472_19939217	19908598	G G	GAGAAGAA others(4): Show GAGAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0174 a0003c0004t0001g0174	1	344	0.0029	11	c.128 others(30): Show c.1289-2850_1289-2849insTTCTTTCTTCT		EFHB	ENSG00000163576.18	transcript	ENST00000295824.14	protein_coding	5/12						chr3	TogoVar
EFHB_chr3_19874472_19939217	19931128	A A	ACTGGGTG others(4): Show ACTGGGTGCAAT	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0195 a0001c0001t0002g0195	1	344	0.0029	11	c.789 others(28): Show c.789+2101_789+2102insATTGCACCCAG		EFHB	ENSG00000163576.18	transcript	ENST00000295824.14	protein_coding	1/12						chr3	TogoVar
EFHC2_chrX_44142872_44348672	44342875	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp1 HG00621.hp1 others(17): Show HG00438.hp2 HG00609.hp1 HG00621.hp1 HG01255.hp1 HG01981.hp2 HG02145.hp1 HG02257.hp2 HG02615.hp2 HG02630.hp1 HG02723.hp1 HG02818.hp1 HG02896.hp1 HG02970.hp1 HG03225.hp1 HG04115.hp1 NA19000.hp1 NA19030.hp1 NA20129.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0006 a0003c0003 others(1): Show a0001c0001 a0001c0006 a0003c0003 a0007c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0006t0006 a0003c0003t0002 a0007c0009t0003	a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0010 others(17): Show a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0002g0107 a0001c0001t0004g0105 a0001c0001t0004g0108 a0001c0001t0005g0110 a0001c0001t0006g0005 a0001c0001t0009g0007 a0001c0001t0009g0009 a0001c0001t0011g0011 a0001c0006t0006g0106 a0003c0003t0002g0109 a0007c0009t0003g0117	20	221	0.0905	11	c.42+ others(24): Show c.42+661_42+671dupTTTTTTTTTTT		EFHC2	ENSG00000183690.13	transcript	ENST00000420999.2	protein_coding	1/14						chrX	TogoVar
EFHD2_chr1_15404888_15435339	15415925	A A	AAGTGAAG others(4): Show AAGTGAAGCCGT	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	424	0.0024	11	c.308 others(28): Show c.308+5647_308+5657dupAGTGAAGCCGT		EFHD2	ENSG00000142634.13	transcript	ENST00000375980.9	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr1	TogoVar
EFNA2_chr19_1280873_1306431	1282509	A A	AAGAGGGA others(4): Show AAGAGGGAGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 NA18522.hp2 NA19063.hp2 HG01981.hp1 NA18522.hp2 NA19063.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0008 a0001c0001 a0001c0002 a0005c0008	a0001c0001t0072 a0001c0002t0001 a0005c0008t0003 a0001c0001t0072 a0001c0002t0001 a0005c0008t0003	a0001c0001t0072g0005 a0001c0002t0001g0063 a0005c0008t0003g0064 a0001c0001t0072g0005 a0001c0002t0001g0063 a0005c0008t0003g0064	3	294	0.0102	11	c.-36 others(22): Show c.-3660_-3659insAGAGGGAGGGG		EFNA2	ENSG00000099617.4	transcript	ENST00000215368.4	protein_coding					3363		chr19	TogoVar
EFNA2_chr19_1280873_1306431	1300241	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0070 a0001c0001t0070	a0001c0001t0070g0004 a0001c0001t0070g0004	1	294	0.0034	11	c.32 others(20): Show c.321_*331dupTTTTTTTTTTT		EFNA2	ENSG00000099617.4	transcript	ENST00000215368.4	protein_coding	4/4				332	INFO_REALIGN_3_PRIME	chr19	TogoVar

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