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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SMC1A_chrX_53369149_53427654	53416327	AAATAAT AAATAAT	A A	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0196 a0001c0001t0002g0196	1	213	0.0047	-6	c.110 others(23): Show c.110-1164_110-1159delATTATT	SMC1A	ENSG00000072501.19	transcript	ENST00000322213.9	protein_coding	1/24			chrX	TogoVar
SMC1B_chr22_45339063_45418599	45415603	GTATATA GTATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00408.hp2 others(189): Show HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG01070.hp1 HG01081.hp1 HG01081.hp2 HG01123.hp1 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01358.hp2 HG01433.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02145.hp2 HG02165.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18940.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18951.hp1 NA18952.hp2 NA18955.hp1 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18962.hp2 NA18963.hp1 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18970.hp1 NA18973.hp1 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18983.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18994.hp1 NA18999.hp1 NA19001.hp1 NA19002.hp1 NA19003.hp1 NA19005.hp1 NA19005.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19056.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19077.hp1 NA19079.hp2 NA19080.hp1 NA19082.hp1 NA19087.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0007 a0009 a0010 a0012 a0014 a0015 a0016	a0001c0002 a0001c0004 a0001c0007 others(13): Show a0001c0002 a0001c0004 a0001c0007 a0001c0008 a0001c0010 a0002c0001 a0003c0003 a0004c0005 a0005c0006 a0007c0011 a0009c0013 a0010c0014 a0012c0020 a0014c0022 a0015c0021 a0016c0017	a0001c0002t0001 a0001c0002t0005 a0001c0004t0003 others(16): Show a0001c0002t0001 a0001c0002t0005 a0001c0004t0003 a0001c0004t0004 a0001c0007t0001 a0001c0008t0003 a0001c0010t0001 a0002c0001t0002 a0003c0003t0001 a0003c0003t0002 a0004c0005t0001 a0005c0006t0001 a0007c0011t0001 a0009c0013t0001 a0010c0014t0001 a0012c0020t0001 a0014c0022t0003 a0015c0021t0001 a0016c0017t0003	a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0024 others(182): Show a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0024 a0001c0002t0001g0029 a0001c0002t0001g0050 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0180 a0001c0002t0001g0182 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0210 a0001c0002t0001g0212 a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0216 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0282 a0001c0002t0001g0287 a0001c0002t0001g0295 a0001c0002t0001g0334 a0001c0002t0001g0335 a0001c0002t0001g0336 a0001c0002t0005g0040 a0001c0002t0005g0041 a0001c0004t0003g0017 a0001c0004t0003g0019 a0001c0004t0003g0035 a0001c0004t0003g0036 a0001c0004t0003g0149 a0001c0004t0003g0150 a0001c0004t0003g0152 a0001c0004t0003g0242 a0001c0004t0003g0288 a0001c0004t0003g0290 a0001c0004t0003g0291 a0001c0004t0003g0296 a0001c0004t0003g0297 a0001c0004t0003g0298 a0001c0004t0003g0299 a0001c0004t0003g0300 a0001c0004t0003g0301 a0001c0004t0003g0302 a0001c0004t0003g0303 a0001c0004t0003g0304 a0001c0004t0003g0306 a0001c0004t0003g0311 a0001c0004t0003g0312 a0001c0004t0003g0313 a0001c0004t0003g0314 a0001c0004t0003g0315 a0001c0004t0003g0316 a0001c0004t0003g0317 a0001c0004t0003g0319 a0001c0004t0003g0320 a0001c0004t0003g0321 a0001c0004t0003g0322 a0001c0004t0003g0323 a0001c0004t0003g0324 a0001c0004t0003g0325 a0001c0004t0003g0326 a0001c0004t0003g0327 a0001c0004t0003g0328 a0001c0004t0003g0329 a0001c0004t0004g0053 a0001c0007t0001g0026 a0001c0008t0003g0018 a0001c0008t0003g0289 a0001c0008t0003g0305 a0001c0008t0003g0307 a0001c0008t0003g0308 a0001c0008t0003g0309 a0001c0008t0003g0310 a0001c0010t0001g0042 a0001c0010t0001g0043 a0001c0010t0001g0044 a0001c0010t0001g0046 a0002c0001t0002g0293 a0002c0001t0002g0294 a0003c0003t0001g0193 a0003c0003t0001g0194 a0003c0003t0001g0198 a0003c0003t0001g0199 a0003c0003t0001g0222 a0003c0003t0001g0223 a0003c0003t0001g0235 a0003c0003t0001g0236 a0003c0003t0001g0237 a0003c0003t0001g0238 a0003c0003t0001g0239 a0003c0003t0001g0243 a0003c0003t0001g0244 a0003c0003t0001g0245 a0003c0003t0001g0246 a0003c0003t0001g0249 a0003c0003t0001g0252 a0003c0003t0001g0253 a0003c0003t0001g0254 a0003c0003t0001g0255 a0003c0003t0001g0256 a0003c0003t0001g0257 a0003c0003t0001g0259 a0003c0003t0001g0260 a0003c0003t0001g0261 a0003c0003t0001g0262 a0003c0003t0001g0263 a0003c0003t0001g0264 a0003c0003t0001g0265 a0003c0003t0001g0266 a0003c0003t0001g0267 a0003c0003t0001g0268 a0003c0003t0001g0269 a0003c0003t0001g0271 a0003c0003t0001g0272 a0003c0003t0001g0273 a0003c0003t0001g0275 a0003c0003t0001g0276 a0003c0003t0001g0277 a0003c0003t0001g0278 a0003c0003t0001g0279 a0003c0003t0001g0280 a0003c0003t0001g0281 a0003c0003t0001g0283 a0003c0003t0001g0284 a0003c0003t0002g0247 a0004c0005t0001g0003 a0004c0005t0001g0021 a0004c0005t0001g0146 a0004c0005t0001g0181 a0004c0005t0001g0183 a0004c0005t0001g0184 a0004c0005t0001g0185 a0004c0005t0001g0186 a0004c0005t0001g0187 a0004c0005t0001g0188 a0004c0005t0001g0189 a0004c0005t0001g0200 a0004c0005t0001g0201 a0004c0005t0001g0202 a0004c0005t0001g0203 a0004c0005t0001g0204 a0004c0005t0001g0205 a0004c0005t0001g0206 a0004c0005t0001g0207 a0004c0005t0001g0208 a0004c0005t0001g0215 a0004c0005t0001g0217 a0004c0005t0001g0286 a0005c0006t0001g0161 a0007c0011t0001g0025 a0007c0011t0001g0047 a0007c0011t0001g0048 a0007c0011t0001g0049 a0009c0013t0001g0051 a0009c0013t0001g0052 a0010c0014t0001g0179 a0010c0014t0001g0192 a0012c0020t0001g0258 a0014c0022t0003g0292 a0015c0021t0001g0251 a0016c0017t0003g0318	192	360	0.5333	-6	c.-20 others(17): Show c.-2042_-2037delTATATA	SMC1B	ENSG00000077935.17	transcript	ENST00000357450.9	protein_coding		2005		chr22	TogoVar
SMC2_chr9_104089309_104146419	104135425	AAACTGG AAACTGG	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03225.hp2 HG03486.hp2 others(1): Show HG02809.hp1 HG03225.hp2 HG03486.hp2 NA19030.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0009 a0003c0004t0025 a0003c0004t0009 a0003c0004t0025	a0003c0004t0009g0024 a0003c0004t0009g0040 a0003c0004t0025g0072 a0003c0004t0009g0024 a0003c0004t0009g0040 a0003c0004t0025g0072	4	278	0.0144	-6	c.326 others(23): Show c.3269+852_3269+857delACTGGA	SMC2	ENSG00000136824.19	transcript	ENST00000374793.8	protein_coding	23/24		INFO_REALIGN_3_PRIME	chr9	TogoVar
SMC3_chr10_110562695_110611048	110582355	CTTGTAG CTTGTAG	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00423.hp2 others(169): Show HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01192.hp2 HG01256.hp2 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01952.hp2 HG01975.hp1 HG01993.hp1 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02109.hp2 HG02129.hp2 HG02145.hp1 HG02148.hp2 HG02165.hp2 HG02273.hp2 HG02293.hp1 HG02451.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG03239.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18612.hp1 NA18906.hp1 NA18939.hp1 NA18940.hp2 NA18941.hp1 NA18946.hp1 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18957.hp2 NA18959.hp2 NA18961.hp2 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18972.hp1 NA18973.hp1 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18987.hp2 NA18988.hp1 NA18990.hp1 NA18992.hp1 NA18993.hp1 NA18994.hp2 NA18998.hp2 NA18999.hp1 NA19001.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19006.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19074.hp2 NA19077.hp1 NA19078.hp1 NA19079.hp2 NA19081.hp1 NA19082.hp2 NA19083.hp2 NA19085.hp1 NA19087.hp1 NA19088.hp2 NA19240.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0006 others(1): Show a0001c0001 a0001c0004 a0001c0006 a0001c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(13): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0024 a0001c0001t0025 a0001c0004t0001 a0001c0006t0001 a0001c0007t0004	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(116): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0118 a0001c0001t0001g0164 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0181 a0001c0001t0003g0015 a0001c0001t0003g0065 a0001c0001t0003g0170 a0001c0001t0003g0172 a0001c0001t0004g0005 a0001c0001t0004g0022 a0001c0001t0004g0167 a0001c0001t0007g0004 a0001c0001t0007g0020 a0001c0001t0007g0076 a0001c0001t0007g0078 a0001c0001t0007g0165 a0001c0001t0008g0001 a0001c0001t0008g0081 a0001c0001t0011g0057 a0001c0001t0011g0058 a0001c0001t0012g0020 a0001c0001t0014g0166 a0001c0001t0016g0048 a0001c0001t0019g0013 a0001c0001t0020g0117 a0001c0001t0024g0022 a0001c0001t0025g0019 a0001c0004t0001g0010 a0001c0004t0001g0062 a0001c0006t0001g0003 a0001c0007t0004g0005	172	328	0.5244	-6	c.724 others(21): Show c.724-199_724-194delTGTAGT	SMC3	ENSG00000108055.11	transcript	ENST00000361804.5	protein_coding	9/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
SMC4_chr3_160394650_160439953	160436192	TATTCTC TATTCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02818.hp1 HG03579.hp2 HG02622.hp2 HG02818.hp1 HG03579.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0017 a0001c0005t0003 a0001c0005t0017	a0001c0005t0003g0029 a0001c0005t0003g0123 a0001c0005t0017g0029 a0001c0005t0003g0029 a0001c0005t0003g0123 a0001c0005t0017g0029	3	332	0.0090	-6	c.23 others(17): Show c.2384_*2389delATTCTC	SMC4	ENSG00000113810.16	transcript	ENST00000357388.8	protein_coding		1240		chr3	TogoVar
SMC5_chr9_70253978_70359873	70277854	CTATATT CTATATT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01070.hp2 HG01071.hp2 others(6): Show HG00140.hp2 HG01070.hp2 HG01071.hp2 HG01255.hp2 HG01346.hp1 HG03654.hp2 HG04115.hp2 NA18955.hp2 NA18999.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0324 a0004c0004t0001g0325 a0004c0004t0001g0326 others(6): Show a0004c0004t0001g0324 a0004c0004t0001g0325 a0004c0004t0001g0326 a0004c0004t0001g0327 a0004c0004t0001g0328 a0004c0004t0001g0329 a0004c0004t0001g0330 a0004c0004t0001g0341 a0004c0004t0001g0343	9	366	0.0246	-6	c.543 others(21): Show c.543+387_543+392delTTTATA	SMC5	ENSG00000198887.9	transcript	ENST00000361138.7	protein_coding	4/24		INFO_REALIGN_3_PRIME	chr9	TogoVar
SMC5_chr9_70253978_70359873	70297014	TTATTTC TTATTTC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02615.hp2 HG02970.hp1 others(2): Show HG01891.hp2 HG02615.hp2 HG02970.hp1 HG03209.hp2 HG03225.hp1	a0002 a0012 a0002 a0012	a0002c0009 a0002c0013 a0012c0020 a0002c0009 a0002c0013 a0012c0020	a0002c0009t0006 a0002c0009t0014 a0002c0013t0006 others(1): Show a0002c0009t0006 a0002c0009t0014 a0002c0013t0006 a0012c0020t0006	a0002c0009t0006g0095 a0002c0009t0006g0098 a0002c0009t0014g0097 others(2): Show a0002c0009t0006g0095 a0002c0009t0006g0098 a0002c0009t0014g0097 a0002c0013t0006g0099 a0012c0020t0006g0096	5	366	0.0137	-6	c.105 others(23): Show c.1054-950_1054-945delATTTCT	SMC5	ENSG00000198887.9	transcript	ENST00000361138.7	protein_coding	8/24		INFO_REALIGN_3_PRIME	chr9	TogoVar
SMC5_chr9_70253978_70359873	70303301	CTATAAT CTATAAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp2 HG00597.hp2 others(56): Show HG00099.hp2 HG00438.hp2 HG00597.hp2 HG00673.hp1 HG00733.hp1 HG01167.hp2 HG01169.hp2 HG01358.hp1 HG02056.hp1 HG02080.hp1 HG02132.hp2 HG02523.hp1 HG02602.hp1 HG03017.hp1 HG03017.hp2 HG03490.hp1 HG03710.hp1 HG03831.hp2 HG03927.hp2 HG04184.hp2 HG04204.hp1 HG04228.hp1 NA18612.hp1 NA18747.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18943.hp2 NA18947.hp1 NA18949.hp2 NA18950.hp2 NA18953.hp1 NA18962.hp1 NA18963.hp2 NA18965.hp2 NA18967.hp1 NA18968.hp2 NA18969.hp2 NA18972.hp1 NA18979.hp2 NA18984.hp1 NA18986.hp1 NA18987.hp1 NA18989.hp2 NA18991.hp1 NA18992.hp2 NA18995.hp1 NA18999.hp1 NA19000.hp2 NA19002.hp1 NA19004.hp2 NA19006.hp1 NA19010.hp2 NA19012.hp2 NA19056.hp1 NA19077.hp1 NA19078.hp1 NA19088.hp2 NA19091.hp1	a0002 a0008 a0011 a0002 a0008 a0011	a0002c0002 a0008c0014 a0011c0021 a0002c0002 a0008c0014 a0011c0021	a0002c0002t0001 a0002c0002t0010 a0002c0002t0019 others(2): Show a0002c0002t0001 a0002c0002t0010 a0002c0002t0019 a0008c0014t0001 a0011c0021t0001	a0002c0002t0001g0002 a0002c0002t0001g0004 a0002c0002t0001g0005 others(52): Show a0002c0002t0001g0002 a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0109 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0315 a0002c0002t0001g0318 a0002c0002t0010g0055 a0002c0002t0019g0045 a0008c0014t0001g0065 a0011c0021t0001g0064	59	366	0.1612	-6	c.146 others(25): Show c.1465-1941_1465-1936delATTATA	SMC5	ENSG00000198887.9	transcript	ENST00000361138.7	protein_coding	10/24		INFO_REALIGN_3_PRIME	chr9	TogoVar
SMC5_chr9_70253978_70359873	70355996	TCTGGCC TCTGGCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02109.hp2 HG02257.hp2 others(3): Show HG02055.hp2 HG02109.hp2 HG02257.hp2 HG02717.hp2 HG02809.hp2 HG02818.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0331 a0004c0006t0001g0332 a0004c0006t0001g0333 others(3): Show a0004c0006t0001g0331 a0004c0006t0001g0332 a0004c0006t0001g0333 a0004c0006t0001g0336 a0004c0006t0001g0340 a0004c0006t0001g0342	6	366	0.0164	-6	c.36 others(17): Show c.3666_*3671delCTGGCC	SMC5	ENSG00000198887.9	transcript	ENST00000361138.7	protein_coding		1124		chr9	TogoVar
SMC5_chr9_70253978_70359873	70359065	AATTATT AATTATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG01070.hp1 HG02602.hp2 others(7): Show HG00733.hp1 HG01070.hp1 HG02602.hp2 HG02647.hp2 HG02738.hp1 HG02809.hp1 HG02896.hp1 HG03453.hp1 NA20129.hp2 NA20752.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0008 a0001c0001 a0002c0002 a0004c0008	a0001c0001t0002 a0001c0001t0007 a0002c0002t0001 others(2): Show a0001c0001t0002 a0001c0001t0007 a0002c0002t0001 a0002c0002t0013 a0004c0008t0005	a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0289 others(7): Show a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0289 a0001c0001t0007g0293 a0002c0002t0001g0083 a0002c0002t0001g0318 a0002c0002t0013g0319 a0004c0008t0005g0100 a0004c0008t0005g0103 a0004c0008t0005g0104	10	366	0.0273	-6	c.67 others(17): Show c.6735_*6740delATTATT	SMC5	ENSG00000198887.9	transcript	ENST00000361138.7	protein_coding		4193		chr9	TogoVar
SMC6_chr2_17658812_17758810	17691233	TACACAC TACACAC	T T	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00639.hp1 HG02451.hp1 others(19): Show HG00621.hp1 HG00639.hp1 HG02451.hp1 HG02896.hp2 HG02897.hp1 HG03098.hp1 NA18945.hp1 NA18946.hp1 NA18957.hp1 NA18968.hp1 NA18971.hp1 NA18977.hp2 NA18979.hp1 NA18984.hp1 NA18992.hp1 NA18993.hp1 NA19001.hp2 NA19006.hp1 NA19012.hp1 NA19043.hp1 NA19064.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0003 a0001c0001t0004g0022 a0001c0001t0004g0023 others(18): Show a0001c0001t0004g0003 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0004g0026 a0001c0001t0004g0027 a0001c0001t0004g0028 a0001c0001t0004g0029 a0001c0001t0004g0030 a0001c0001t0004g0031 a0001c0001t0004g0032 a0001c0001t0004g0033 a0001c0001t0004g0034 a0001c0001t0004g0035 a0001c0001t0004g0036 a0001c0001t0004g0037 a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0040 a0001c0001t0004g0055	22	254	0.0866	-6	c.267 others(25): Show c.2678+3913_2678+3918delGTGTGT	SMC6	ENSG00000163029.16	transcript	ENST00000448223.7	protein_coding	23/27			chr2	TogoVar
SMC6_chr2_17658812_17758810	17701033	AAATAAT AAATAAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp1 others(50): Show HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00735.hp2 HG00738.hp2 HG01099.hp2 HG01109.hp1 HG01168.hp2 HG01175.hp2 HG01192.hp2 HG01256.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp1 HG01433.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01981.hp1 HG02004.hp2 HG02055.hp1 HG02257.hp1 HG02280.hp2 HG02300.hp2 HG02559.hp1 HG02622.hp2 HG02717.hp1 HG02723.hp2 HG02896.hp1 HG02897.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp2 HG03834.hp2 HG04228.hp1 NA18522.hp1 NA18955.hp2 NA19057.hp1 NA19067.hp2 NA19077.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0002c0004 others(1): Show a0001c0001 a0002c0003 a0002c0004 a0003c0002	a0001c0001t0002 a0002c0003t0001 a0002c0004t0002 others(3): Show a0001c0001t0002 a0002c0003t0001 a0002c0004t0002 a0003c0002t0001 a0003c0002t0009 a0003c0002t0011	a0001c0001t0002g0206 a0002c0003t0001g0007 a0002c0003t0001g0008 others(47): Show a0001c0001t0002g0206 a0002c0003t0001g0007 a0002c0003t0001g0008 a0002c0003t0001g0151 a0002c0003t0001g0152 a0002c0003t0001g0153 a0002c0003t0001g0154 a0002c0003t0001g0155 a0002c0003t0001g0156 a0002c0003t0001g0164 a0002c0003t0001g0165 a0002c0003t0001g0169 a0002c0003t0001g0170 a0002c0003t0001g0172 a0002c0003t0001g0177 a0002c0003t0001g0181 a0002c0003t0001g0182 a0002c0004t0002g0179 a0002c0004t0002g0183 a0002c0004t0002g0184 a0002c0004t0002g0185 a0002c0004t0002g0186 a0002c0004t0002g0188 a0003c0002t0001g0009 a0003c0002t0001g0157 a0003c0002t0001g0158 a0003c0002t0001g0160 a0003c0002t0001g0161 a0003c0002t0001g0162 a0003c0002t0001g0163 a0003c0002t0001g0166 a0003c0002t0001g0167 a0003c0002t0001g0168 a0003c0002t0001g0173 a0003c0002t0001g0178 a0003c0002t0001g0180 a0003c0002t0001g0189 a0003c0002t0001g0190 a0003c0002t0001g0191 a0003c0002t0001g0192 a0003c0002t0001g0193 a0003c0002t0001g0194 a0003c0002t0001g0196 a0003c0002t0001g0198 a0003c0002t0001g0199 a0003c0002t0001g0200 a0003c0002t0001g0201 a0003c0002t0009g0232 a0003c0002t0009g0233 a0003c0002t0011g0197	53	254	0.2087	-6	c.222 others(23): Show c.2224-661_2224-656delATTATT	SMC6	ENSG00000163029.16	transcript	ENST00000448223.7	protein_coding	20/27			chr2	TogoVar
SMC6_chr2_17658812_17758810	17707997	TACACAC TACACAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(143): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00735.hp2 HG00738.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01981.hp1 HG02004.hp2 HG02055.hp1 HG02056.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18945.hp1 NA18946.hp1 NA18955.hp2 NA18957.hp1 NA18959.hp2 NA18971.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18984.hp1 NA18989.hp2 NA18992.hp1 NA18993.hp1 NA19001.hp2 NA19004.hp2 NA19006.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19064.hp1 NA19067.hp2 NA19070.hp2 NA19077.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0005 a0002c0003 others(3): Show a0001c0001 a0001c0005 a0002c0003 a0002c0004 a0003c0002 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0017 a0001c0005t0001 a0002c0003t0001 a0002c0004t0002 a0003c0002t0001 a0003c0002t0009 a0003c0002t0011 a0004c0008t0012	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0016 others(136): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0066 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0171 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0187 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0004g0003 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0024 a0001c0001t0004g0026 a0001c0001t0004g0027 a0001c0001t0004g0028 a0001c0001t0004g0029 a0001c0001t0004g0030 a0001c0001t0004g0031 a0001c0001t0004g0032 a0001c0001t0004g0033 a0001c0001t0004g0034 a0001c0001t0004g0035 a0001c0001t0004g0036 a0001c0001t0004g0037 a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0040 a0001c0001t0004g0055 a0001c0001t0005g0234 a0001c0001t0005g0235 a0001c0001t0005g0236 a0001c0001t0005g0237 a0001c0001t0005g0238 a0001c0001t0005g0239 a0001c0001t0005g0240 a0001c0001t0005g0241 a0001c0001t0005g0242 a0001c0001t0005g0243 a0001c0001t0008g0215 a0001c0001t0008g0216 a0001c0001t0017g0244 a0001c0005t0001g0021 a0002c0003t0001g0007 a0002c0003t0001g0008 a0002c0003t0001g0133 a0002c0003t0001g0134 a0002c0003t0001g0135 a0002c0003t0001g0136 a0002c0003t0001g0137 a0002c0003t0001g0144 a0002c0003t0001g0145 a0002c0003t0001g0150 a0002c0003t0001g0151 a0002c0003t0001g0153 a0002c0003t0001g0154 a0002c0003t0001g0155 a0002c0003t0001g0156 a0002c0003t0001g0164 a0002c0003t0001g0165 a0002c0003t0001g0170 a0002c0003t0001g0172 a0002c0003t0001g0177 a0002c0003t0001g0181 a0002c0003t0001g0182 a0002c0004t0002g0179 a0002c0004t0002g0183 a0002c0004t0002g0184 a0002c0004t0002g0185 a0002c0004t0002g0186 a0002c0004t0002g0188 a0003c0002t0001g0009 a0003c0002t0001g0157 a0003c0002t0001g0158 a0003c0002t0001g0160 a0003c0002t0001g0161 a0003c0002t0001g0162 a0003c0002t0001g0163 a0003c0002t0001g0166 a0003c0002t0001g0167 a0003c0002t0001g0168 a0003c0002t0001g0173 a0003c0002t0001g0178 a0003c0002t0001g0180 a0003c0002t0001g0189 a0003c0002t0001g0190 a0003c0002t0001g0191 a0003c0002t0001g0192 a0003c0002t0001g0193 a0003c0002t0001g0194 a0003c0002t0001g0196 a0003c0002t0001g0198 a0003c0002t0001g0199 a0003c0002t0001g0200 a0003c0002t0001g0201 a0003c0002t0009g0232 a0003c0002t0009g0233 a0003c0002t0011g0197 a0004c0008t0012g0195	146	254	0.5748	-6	c.184 others(23): Show c.1846-624_1846-619delGTGTGT	SMC6	ENSG00000163029.16	transcript	ENST00000448223.7	protein_coding	17/27			chr2	TogoVar
SMC6_chr2_17658812_17758810	17726251	GGAAATT GGAAATT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp2 HG01069.hp2 others(28): Show HG00140.hp1 HG00639.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01243.hp1 HG01261.hp2 HG01433.hp2 HG01496.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG02145.hp2 HG02451.hp2 HG02486.hp1 HG02809.hp1 HG02922.hp2 HG02976.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03239.hp1 HG03471.hp2 HG03516.hp2 HG03704.hp2 HG03710.hp1 HG06807.hp2 NA18906.hp2 NA20129.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0187 a0001c0001t0002g0202 a0001c0001t0002g0203 others(28): Show a0001c0001t0002g0187 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0008g0215 a0001c0001t0008g0216	31	254	0.1221	-6	c.624 others(21): Show c.624+132_624+137delAATTTC	SMC6	ENSG00000163029.16	transcript	ENST00000448223.7	protein_coding	8/27			chr2	TogoVar
SMC6_chr2_17658812_17758810	17727505	TTATATA TTATATA	T T	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03225.hp1 HG03453.hp2 HG02717.hp2 HG03225.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0066 a0001c0001t0001g0004 a0001c0001t0001g0066	3	254	0.0118	-6	c.544 others(23): Show c.544-1042_544-1037delTATATA	SMC6	ENSG00000163029.16	transcript	ENST00000448223.7	protein_coding	7/27			chr2	TogoVar
SMC6_chr2_17658812_17758810	17739879	AACACAC AACACAC	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01070.hp2 HG01071.hp2 others(27): Show HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01256.hp2 HG01261.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG02258.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02615.hp2 HG02622.hp1 HG02717.hp1 HG02723.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG03041.hp1 HG03139.hp1 HG03195.hp2 HG03225.hp1 HG03579.hp1 HG03704.hp2 NA18906.hp2 NA20129.hp2 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0005 a0002c0003 others(1): Show a0001c0001 a0001c0005 a0002c0003 a0003c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0005t0001 a0002c0003t0001 a0003c0002t0001	a0001c0001t0001g0066 a0001c0001t0001g0148 a0001c0001t0001g0149 others(27): Show a0001c0001t0001g0066 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0171 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0225 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0008g0215 a0001c0005t0001g0021 a0002c0003t0001g0135 a0002c0003t0001g0136 a0002c0003t0001g0151 a0002c0003t0001g0172 a0003c0002t0001g0160 a0003c0002t0001g0161 a0003c0002t0001g0173 a0003c0002t0001g0180	30	254	0.1181	-6	c.239 others(23): Show c.239-1559_239-1554delGTGTGT	SMC6	ENSG00000163029.16	transcript	ENST00000448223.7	protein_coding	4/27			chr2	TogoVar
SMCHD1_chr18_2650726_2810017	2662202	AAGAAAG AAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01081.hp1 HG01106.hp2 others(50): Show HG00639.hp2 HG01081.hp1 HG01106.hp2 HG01167.hp1 HG01192.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02055.hp1 HG02109.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03453.hp1 HG03471.hp1 HG03516.hp2 HG03942.hp2 NA19030.hp1 NA19043.hp2 NA19240.hp1 NA20300.hp2 NA21309.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0009 a0010 a0011 a0012	a0001c0005 a0001c0007 a0001c0012 others(7): Show a0001c0005 a0001c0007 a0001c0012 a0002c0001 a0002c0016 a0004c0008 a0009c0020 a0010c0022 a0011c0024 a0012c0021	a0001c0005t0007 a0001c0005t0009 a0001c0005t0016 others(22): Show a0001c0005t0007 a0001c0005t0009 a0001c0005t0016 a0001c0005t0026 a0001c0007t0004 a0001c0007t0011 a0001c0007t0013 a0001c0007t0016 a0001c0012t0022 a0001c0012t0028 a0002c0001t0008 a0002c0001t0021 a0002c0001t0025 a0002c0001t0029 a0002c0016t0023 a0002c0016t0034 a0004c0008t0001 a0004c0008t0011 a0004c0008t0017 a0004c0008t0019 a0004c0008t0047 a0009c0020t0017 a0010c0022t0011 a0011c0024t0043 a0012c0021t0045	a0001c0005t0007g0022 a0001c0005t0007g0023 a0001c0005t0007g0024 others(50): Show a0001c0005t0007g0022 a0001c0005t0007g0023 a0001c0005t0007g0024 a0001c0005t0007g0025 a0001c0005t0007g0026 a0001c0005t0007g0027 a0001c0005t0007g0028 a0001c0005t0007g0029 a0001c0005t0007g0033 a0001c0005t0009g0031 a0001c0005t0016g0032 a0001c0005t0026g0030 a0001c0007t0004g0238 a0001c0007t0004g0239 a0001c0007t0011g0230 a0001c0007t0013g0233 a0001c0007t0013g0234 a0001c0007t0013g0235 a0001c0007t0013g0236 a0001c0007t0013g0237 a0001c0007t0016g0226 a0001c0007t0016g0227 a0001c0007t0016g0228 a0001c0012t0022g0020 a0001c0012t0028g0021 a0002c0001t0008g0004 a0002c0001t0008g0006 a0002c0001t0008g0007 a0002c0001t0008g0008 a0002c0001t0008g0009 a0002c0001t0008g0010 a0002c0001t0008g0011 a0002c0001t0021g0247 a0002c0001t0021g0339 a0002c0001t0025g0005 a0002c0001t0029g0338 a0002c0016t0023g0002 a0002c0016t0023g0003 a0002c0016t0034g0019 a0004c0008t0001g0001 a0004c0008t0011g0221 a0004c0008t0011g0222 a0004c0008t0011g0223 a0004c0008t0017g0248 a0004c0008t0017g0249 a0004c0008t0019g0218 a0004c0008t0019g0219 a0004c0008t0019g0224 a0004c0008t0047g0225 a0009c0020t0017g0220 a0010c0022t0011g0229 a0011c0024t0043g0231 a0012c0021t0045g0232	53	340	0.1559	-6	c.187 others(23): Show c.187-3953_187-3948delGAAAGA	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	1/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2708867	CATATAT CATATAT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02738.hp2 HG06807.hp1 HG00741.hp1 HG02738.hp2 HG06807.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0043 a0003c0003t0004g0044 a0003c0003t0004g0067 a0003c0003t0004g0043 a0003c0003t0004g0044 a0003c0003t0004g0067	3	340	0.0088	-6	c.226 others(23): Show c.2260+983_2260+988delTATATA	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	17/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2736654	CATCATA CATCATA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(59): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00621.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01081.hp2 HG01106.hp1 HG01168.hp1 HG01169.hp1 HG01255.hp2 HG01258.hp2 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01943.hp2 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG02055.hp2 HG02109.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02165.hp2 HG02486.hp2 HG02559.hp2 HG02683.hp1 HG02735.hp1 HG02738.hp1 HG02886.hp2 HG03041.hp2 HG03239.hp2 HG03491.hp2 HG03516.hp1 HG03579.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 NA18522.hp2 NA18951.hp1 NA18952.hp2 NA18962.hp2 NA18972.hp2 NA18974.hp2 NA19003.hp1 NA19012.hp1 NA19043.hp1 NA19058.hp1 NA19062.hp2 NA19066.hp1 NA19081.hp1 NA20129.hp1 NA20752.hp2	a0001 a0015 a0001 a0015	a0001c0002 a0001c0004 a0001c0012 others(1): Show a0001c0002 a0001c0004 a0001c0012 a0015c0025	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(7): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0015 a0001c0002t0018 a0001c0002t0036 a0001c0002t0037 a0001c0004t0001 a0001c0012t0003 a0015c0025t0022	a0001c0002t0001g0176 a0001c0002t0001g0178 a0001c0002t0001g0179 others(59): Show a0001c0002t0001g0176 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0208 a0001c0002t0002g0156 a0001c0002t0002g0157 a0001c0002t0003g0013 a0001c0002t0003g0014 a0001c0002t0003g0015 a0001c0002t0003g0016 a0001c0002t0003g0017 a0001c0002t0003g0035 a0001c0002t0003g0036 a0001c0002t0003g0160 a0001c0002t0003g0161 a0001c0002t0003g0162 a0001c0002t0003g0163 a0001c0002t0003g0164 a0001c0002t0003g0165 a0001c0002t0003g0166 a0001c0002t0003g0167 a0001c0002t0003g0168 a0001c0002t0003g0169 a0001c0002t0003g0170 a0001c0002t0003g0171 a0001c0002t0003g0172 a0001c0002t0003g0173 a0001c0002t0003g0174 a0001c0002t0003g0175 a0001c0002t0003g0177 a0001c0002t0003g0183 a0001c0002t0003g0184 a0001c0002t0003g0185 a0001c0002t0003g0186 a0001c0002t0003g0188 a0001c0002t0003g0190 a0001c0002t0003g0197 a0001c0002t0003g0199 a0001c0002t0003g0200 a0001c0002t0003g0201 a0001c0002t0003g0202 a0001c0002t0003g0205 a0001c0002t0003g0336 a0001c0002t0003g0337 a0001c0002t0015g0191 a0001c0002t0018g0187 a0001c0002t0018g0204 a0001c0002t0018g0207 a0001c0002t0036g0206 a0001c0002t0037g0198 a0001c0004t0001g0182 a0001c0004t0001g0189 a0001c0012t0003g0254 a0001c0012t0003g0272 a0015c0025t0022g0203	62	340	0.1824	-6	c.327 others(25): Show c.3277-1731_3277-1726delAATCAT	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	25/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2748342	TTGTGTG TTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp1 HG01169.hp2 others(17): Show HG00423.hp1 HG00609.hp1 HG01169.hp2 HG01943.hp1 HG01975.hp2 HG02132.hp2 HG02155.hp1 HG02273.hp2 HG02293.hp2 HG02630.hp1 HG02965.hp1 HG03453.hp2 HG03486.hp1 HG03704.hp1 NA18965.hp1 NA18972.hp1 NA18979.hp1 NA18980.hp2 NA19030.hp2 NA19058.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0002 a0001c0004 a0001c0005 others(4): Show a0001c0002 a0001c0004 a0001c0005 a0001c0018 a0002c0001 a0002c0006 a0007c0029	a0001c0002t0002 a0001c0004t0002 a0001c0004t0005 others(6): Show a0001c0002t0002 a0001c0004t0002 a0001c0004t0005 a0001c0005t0046 a0001c0018t0002 a0002c0001t0014 a0002c0001t0040 a0002c0006t0002 a0007c0029t0002	a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0004t0002g0062 others(17): Show a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0004t0002g0062 a0001c0004t0002g0079 a0001c0004t0002g0083 a0001c0004t0002g0113 a0001c0004t0002g0137 a0001c0004t0002g0138 a0001c0004t0002g0142 a0001c0004t0002g0153 a0001c0004t0002g0154 a0001c0004t0005g0093 a0001c0005t0046g0159 a0001c0018t0002g0087 a0002c0001t0014g0215 a0002c0001t0014g0216 a0002c0001t0040g0217 a0002c0006t0002g0054 a0002c0006t0002g0129 a0007c0029t0002g0046	20	340	0.0588	-6	c.392 others(23): Show c.3927+731_3927+736delGTGTGT	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	30/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2775068	ATTTTTT ATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00642.hp1 HG01884.hp1 others(32): Show HG00423.hp2 HG00642.hp1 HG01884.hp1 HG02040.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02165.hp1 HG02293.hp1 HG02451.hp2 HG02523.hp1 HG02615.hp2 HG02735.hp2 HG02896.hp2 HG02897.hp1 HG03098.hp2 HG03195.hp2 HG03471.hp1 HG04184.hp2 NA18612.hp1 NA18943.hp1 NA18945.hp2 NA18952.hp1 NA18953.hp2 NA18969.hp2 NA18974.hp1 NA18983.hp2 NA19062.hp1 NA19066.hp2 NA19067.hp2 NA19081.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA21309.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0005 a0001c0009 a0002c0001 others(1): Show a0001c0005 a0001c0009 a0002c0001 a0006c0017	a0001c0005t0007 a0001c0005t0009 a0001c0005t0020 others(8): Show a0001c0005t0007 a0001c0005t0009 a0001c0005t0020 a0001c0005t0026 a0001c0009t0001 a0001c0009t0015 a0002c0001t0001 a0002c0001t0031 a0002c0001t0032 a0006c0017t0015 a0006c0017t0020	a0001c0005t0007g0022 a0001c0005t0007g0023 a0001c0005t0007g0025 others(32): Show a0001c0005t0007g0022 a0001c0005t0007g0023 a0001c0005t0007g0025 a0001c0005t0007g0026 a0001c0005t0007g0028 a0001c0005t0007g0029 a0001c0005t0007g0033 a0001c0005t0009g0031 a0001c0005t0020g0315 a0001c0005t0020g0316 a0001c0005t0026g0030 a0001c0009t0001g0018 a0001c0009t0001g0214 a0001c0009t0001g0321 a0001c0009t0015g0210 a0002c0001t0001g0275 a0002c0001t0001g0277 a0002c0001t0001g0278 a0002c0001t0001g0300 a0002c0001t0001g0310 a0002c0001t0001g0312 a0002c0001t0001g0313 a0002c0001t0001g0314 a0002c0001t0001g0317 a0002c0001t0001g0318 a0002c0001t0001g0320 a0002c0001t0001g0322 a0002c0001t0001g0323 a0002c0001t0001g0324 a0002c0001t0001g0327 a0002c0001t0001g0331 a0002c0001t0031g0308 a0002c0001t0032g0309 a0006c0017t0015g0311 a0006c0017t0020g0325	35	340	0.1029	-6	c.517 others(23): Show c.5176-640_5176-635delTTTTTT	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	41/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2782744	CAAAAAA CAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00558.hp1 HG00609.hp1 others(23): Show HG00423.hp1 HG00558.hp1 HG00609.hp1 HG00733.hp1 HG01981.hp1 HG02015.hp1 HG02040.hp2 HG02132.hp2 HG02155.hp1 HG02698.hp1 HG03239.hp1 HG03704.hp1 HG04228.hp2 NA18612.hp2 NA18941.hp2 NA18949.hp1 NA18957.hp2 NA18980.hp2 NA18983.hp1 NA18988.hp2 NA19001.hp2 NA19003.hp2 NA19010.hp2 NA19011.hp2 NA19088.hp2 NA20905.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0002 a0001c0004 a0001c0018 others(3): Show a0001c0002 a0001c0004 a0001c0018 a0001c0030 a0002c0006 a0007c0029	a0001c0002t0002 a0001c0004t0002 a0001c0004t0012 others(5): Show a0001c0002t0002 a0001c0004t0002 a0001c0004t0012 a0001c0004t0039 a0001c0018t0002 a0001c0030t0002 a0002c0006t0002 a0007c0029t0002	a0001c0002t0002g0334 a0001c0004t0002g0037 a0001c0004t0002g0045 others(23): Show a0001c0002t0002g0334 a0001c0004t0002g0037 a0001c0004t0002g0045 a0001c0004t0002g0049 a0001c0004t0002g0062 a0001c0004t0002g0068 a0001c0004t0002g0069 a0001c0004t0002g0076 a0001c0004t0002g0079 a0001c0004t0002g0083 a0001c0004t0002g0098 a0001c0004t0002g0100 a0001c0004t0002g0101 a0001c0004t0002g0131 a0001c0004t0002g0142 a0001c0004t0002g0340 a0001c0004t0012g0056 a0001c0004t0012g0058 a0001c0004t0012g0086 a0001c0004t0012g0105 a0001c0004t0039g0060 a0001c0018t0002g0087 a0001c0018t0002g0147 a0001c0030t0002g0072 a0002c0006t0002g0066 a0007c0029t0002g0046	26	340	0.0765	-6	c.554 others(25): Show c.5548-1683_5548-1678delAAAAAA	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	44/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2803194	GTGTGTA GTGTGTA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02572.hp2 HG03098.hp1 HG03942.hp2 HG02572.hp2 HG03098.hp1 HG03942.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0021 a0002c0001t0029 a0002c0001t0021 a0002c0001t0029	a0002c0001t0021g0247 a0002c0001t0021g0339 a0002c0001t0029g0338 a0002c0001t0021g0247 a0002c0001t0021g0339 a0002c0001t0029g0338	3	340	0.0088	-6	c.64 others(15): Show c.644_*649delGTGTAT	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	48/48	644	INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCO1_chr3_196501879_196520346	196515988	GATATAT GATATAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp1 NA19056.hp1 NA19067.hp1 HG01358.hp1 NA19056.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0127 a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0127	3	398	0.0075	-6	c.-78 others(15): Show c.-785_-780delATATAT	SMCO1	ENSG00000214097.5	transcript	ENST00000397537.3	protein_coding		643		chr3	TogoVar
SMCO2_chr12_27441736_27507185	27459186	CAAAAAA CAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00741.hp2 HG01069.hp2 others(24): Show HG00099.hp2 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01192.hp1 HG02055.hp1 HG02258.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03471.hp2 NA18906.hp2 NA19240.hp1 NA20300.hp2 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0003 a0002c0005 others(4): Show a0001c0001 a0002c0003 a0002c0005 a0002c0007 a0002c0021 a0004c0006 a0004c0017	a0001c0001t0001 a0002c0003t0001 a0002c0005t0001 others(5): Show a0001c0001t0001 a0002c0003t0001 a0002c0005t0001 a0002c0007t0001 a0002c0021t0001 a0004c0006t0005 a0004c0006t0006 a0004c0017t0005	a0001c0001t0001g0016 a0002c0003t0001g0288 a0002c0005t0001g0018 others(21): Show a0001c0001t0001g0016 a0002c0003t0001g0288 a0002c0005t0001g0018 a0002c0005t0001g0027 a0002c0007t0001g0021 a0002c0007t0001g0022 a0002c0007t0001g0023 a0002c0007t0001g0025 a0002c0007t0001g0026 a0002c0007t0001g0028 a0002c0007t0001g0029 a0002c0021t0001g0019 a0004c0006t0005g0015 a0004c0006t0005g0166 a0004c0006t0005g0167 a0004c0006t0005g0289 a0004c0006t0005g0290 a0004c0006t0005g0292 a0004c0006t0005g0293 a0004c0006t0005g0294 a0004c0006t0006g0006 a0004c0006t0006g0033 a0004c0017t0005g0020 a0004c0017t0005g0024	27	360	0.0750	-6	c.-10 others(25): Show c.-10-11419_-10-11414delAAAAAA	SMCO2	ENSG00000165935.10	transcript	ENST00000535986.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
SMCO2_chr12_27441736_27507185	27477209	GGTTTTT GGTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp1 HG00609.hp2 others(46): Show HG00438.hp2 HG00558.hp1 HG00609.hp2 HG00642.hp2 HG01884.hp1 HG02004.hp1 HG02027.hp2 HG02080.hp1 HG02109.hp2 HG02280.hp1 HG02615.hp1 HG02922.hp2 HG03139.hp1 HG03195.hp1 HG03239.hp2 HG03540.hp1 HG03688.hp2 HG03831.hp1 HG03834.hp1 NA18747.hp1 NA18939.hp1 NA18940.hp2 NA18942.hp1 NA18944.hp1 NA18945.hp2 NA18952.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18968.hp2 NA18970.hp1 NA18980.hp2 NA18983.hp2 NA18988.hp1 NA18989.hp2 NA18998.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19063.hp2 NA19078.hp1 NA19085.hp2 NA19087.hp1 NA19091.hp2 NA20752.hp1 NA21309.hp1 NA21309.hp2	a0002 a0003 a0002 a0003	a0002c0003 a0002c0015 a0002c0016 others(1): Show a0002c0003 a0002c0015 a0002c0016 a0003c0009	a0002c0003t0001 a0002c0003t0003 a0002c0003t0004 others(4): Show a0002c0003t0001 a0002c0003t0003 a0002c0003t0004 a0002c0015t0001 a0002c0016t0001 a0003c0009t0003 a0003c0009t0004	a0002c0003t0001g0197 a0002c0003t0001g0204 a0002c0003t0001g0233 others(41): Show a0002c0003t0001g0197 a0002c0003t0001g0204 a0002c0003t0001g0233 a0002c0003t0001g0234 a0002c0003t0001g0235 a0002c0003t0001g0288 a0002c0003t0003g0004 a0002c0003t0003g0005 a0002c0003t0003g0011 a0002c0003t0003g0084 a0002c0003t0003g0130 a0002c0003t0003g0131 a0002c0003t0003g0132 a0002c0003t0003g0133 a0002c0003t0003g0135 a0002c0003t0003g0137 a0002c0003t0003g0138 a0002c0003t0003g0139 a0002c0003t0003g0142 a0002c0003t0003g0143 a0002c0003t0003g0145 a0002c0003t0003g0146 a0002c0003t0003g0147 a0002c0003t0003g0148 a0002c0003t0003g0150 a0002c0003t0003g0151 a0002c0003t0003g0152 a0002c0003t0003g0153 a0002c0003t0003g0154 a0002c0003t0003g0155 a0002c0003t0003g0156 a0002c0003t0003g0159 a0002c0003t0003g0160 a0002c0003t0003g0161 a0002c0003t0003g0316 a0002c0003t0003g0317 a0002c0003t0004g0176 a0002c0003t0004g0268 a0002c0015t0001g0314 a0002c0016t0001g0239 a0002c0016t0001g0315 a0003c0009t0003g0134 a0003c0009t0003g0144 a0003c0009t0004g0172	49	360	0.1361	-6	c.512 others(23): Show c.512+1479_512+1484delGTTTTT	SMCO2	ENSG00000165935.10	transcript	ENST00000535986.2	protein_coding	5/8			chr12	TogoVar
SMCO2_chr12_27441736_27507185	27484011	TTTACTA TTTACTA	T T	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02735.hp2 HG03017.hp2 others(2): Show HG02015.hp2 HG02735.hp2 HG03017.hp2 NA18986.hp2 NA19011.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0006 a0005c0010t0006	a0005c0010t0006g0238 a0005c0010t0006g0332 a0005c0010t0006g0333 others(2): Show a0005c0010t0006g0238 a0005c0010t0006g0332 a0005c0010t0006g0333 a0005c0010t0006g0334 a0005c0010t0006g0335	5	360	0.0139	-6	c.513 others(23): Show c.513-4444_513-4439delTATTAC	SMCO2	ENSG00000165935.10	transcript	ENST00000535986.2	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
SMCO2_chr12_27441736_27507185	27494487	TTTATTA TTTATTA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00544.hp1 HG00558.hp2 others(88): Show HG00099.hp2 HG00544.hp1 HG00558.hp2 HG00733.hp2 HG01069.hp2 HG01071.hp2 HG01981.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02071.hp2 HG02074.hp1 HG02132.hp1 HG02155.hp1 HG02165.hp2 HG02258.hp2 HG02300.hp2 HG02486.hp1 HG02602.hp2 HG02622.hp2 HG02647.hp1 HG02683.hp2 HG02717.hp2 HG02735.hp2 HG02818.hp1 HG02895.hp1 HG02965.hp1 HG03017.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03654.hp2 HG03704.hp1 HG03831.hp2 HG03927.hp2 HG04115.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp2 NA18948.hp2 NA18949.hp1 NA18951.hp2 NA18959.hp1 NA18966.hp2 NA18968.hp1 NA18969.hp1 NA18971.hp2 NA18973.hp2 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18979.hp2 NA18981.hp1 NA18985.hp2 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18990.hp1 NA18991.hp1 NA18992.hp2 NA18995.hp2 NA19003.hp1 NA19005.hp1 NA19007.hp2 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19054.hp2 NA19058.hp2 NA19066.hp2 NA19072.hp2 NA19080.hp1 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19086.hp2 NA19090.hp1 NA19091.hp1 NA19240.hp1 NA20300.hp2 NA20905.hp2 NA21309.hp1	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0005 a0006 a0008	a0001c0001 a0003c0002 a0003c0009 others(4): Show a0001c0001 a0003c0002 a0003c0009 a0004c0006 a0005c0010 a0006c0011 a0008c0013	a0001c0001t0002 a0003c0002t0001 a0003c0002t0002 others(11): Show a0001c0001t0002 a0003c0002t0001 a0003c0002t0002 a0003c0002t0004 a0003c0009t0001 a0003c0009t0003 a0003c0009t0004 a0004c0006t0005 a0004c0006t0006 a0005c0010t0006 a0006c0011t0001 a0006c0011t0002 a0008c0013t0001 a0008c0013t0002	a0001c0001t0002g0062 a0003c0002t0001g0249 a0003c0002t0002g0001 others(77): Show a0001c0001t0002g0062 a0003c0002t0001g0249 a0003c0002t0002g0001 a0003c0002t0002g0003 a0003c0002t0002g0008 a0003c0002t0002g0010 a0003c0002t0002g0053 a0003c0002t0002g0056 a0003c0002t0002g0057 a0003c0002t0002g0059 a0003c0002t0002g0060 a0003c0002t0002g0065 a0003c0002t0002g0066 a0003c0002t0002g0067 a0003c0002t0002g0068 a0003c0002t0002g0078 a0003c0002t0002g0088 a0003c0002t0002g0089 a0003c0002t0002g0090 a0003c0002t0002g0091 a0003c0002t0002g0092 a0003c0002t0002g0093 a0003c0002t0002g0094 a0003c0002t0002g0095 a0003c0002t0002g0098 a0003c0002t0002g0101 a0003c0002t0002g0102 a0003c0002t0002g0103 a0003c0002t0002g0104 a0003c0002t0002g0105 a0003c0002t0002g0106 a0003c0002t0002g0107 a0003c0002t0002g0108 a0003c0002t0002g0109 a0003c0002t0002g0111 a0003c0002t0002g0112 a0003c0002t0002g0113 a0003c0002t0002g0114 a0003c0002t0002g0115 a0003c0002t0002g0116 a0003c0002t0002g0117 a0003c0002t0002g0118 a0003c0002t0002g0119 a0003c0002t0002g0123 a0003c0002t0002g0124 a0003c0002t0002g0125 a0003c0002t0002g0126 a0003c0002t0002g0127 a0003c0002t0002g0128 a0003c0002t0002g0129 a0003c0002t0002g0136 a0003c0002t0002g0141 a0003c0002t0004g0195 a0003c0002t0004g0202 a0003c0002t0004g0203 a0003c0009t0001g0207 a0003c0009t0001g0253 a0003c0009t0003g0144 a0003c0009t0004g0172 a0004c0006t0005g0015 a0004c0006t0005g0166 a0004c0006t0005g0167 a0004c0006t0005g0289 a0004c0006t0005g0290 a0004c0006t0005g0291 a0004c0006t0005g0292 a0004c0006t0005g0293 a0004c0006t0005g0294 a0004c0006t0006g0006 a0004c0006t0006g0033 a0005c0010t0006g0238 a0005c0010t0006g0332 a0005c0010t0006g0333 a0005c0010t0006g0334 a0005c0010t0006g0335 a0006c0011t0001g0274 a0006c0011t0002g0017 a0006c0011t0002g0328 a0008c0013t0001g0323 a0008c0013t0002g0330	91	360	0.2528	-6	c.657 others(21): Show c.657+163_657+168delTATTAT	SMCO2	ENSG00000165935.10	transcript	ENST00000535986.2	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
SMCO4_chr11_93473472_93548391	93478713	GCACACA GCACACA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00438.hp1 others(147): Show HG00099.hp1 HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00673.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01106.hp2 HG01168.hp1 HG01192.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01516.hp1 HG01884.hp2 HG01891.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02257.hp2 HG02258.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02683.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp1 HG02818.hp2 HG02896.hp1 HG03098.hp2 HG03130.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03579.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18941.hp2 NA18942.hp1 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp2 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18991.hp1 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18997.hp1 NA18998.hp2 NA19001.hp1 NA19002.hp2 NA19005.hp1 NA19007.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19085.hp1 NA19085.hp2 NA19090.hp1 NA19091.hp1 NA20129.hp1 NA20752.hp1 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0010 a0001c0001t0024 others(1): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0024 a0002c0004t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(129): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0045 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0203 a0001c0001t0001g0214 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0265 a0001c0001t0001g0268 a0001c0001t0001g0277 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0288 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0297 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0344 a0001c0001t0001g0350 a0001c0001t0001g0365 a0001c0001t0001g0369 a0001c0001t0010g0215 a0001c0001t0010g0224 a0001c0001t0010g0228 a0001c0001t0010g0269 a0001c0001t0010g0329 a0001c0001t0024g0375 a0002c0004t0001g0266	150	412	0.3641	-6	c.29 others(15): Show c.291_*296delTGTGTG	SMCO4	ENSG00000166002.7	transcript	ENST00000298966.7	protein_coding	3/3	291		chr11	TogoVar
SMCO4_chr11_93473472_93548391	93505856	AATGATG AATGATG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(217): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01099.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01981.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02486.hp1 HG02523.hp1 HG02602.hp1 HG02698.hp1 HG02717.hp2 HG02735.hp2 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03486.hp1 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18991.hp2 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19059.hp2 NA19060.hp2 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19070.hp2 NA19074.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0017 a0001c0002t0004 a0001c0003t0005 a0001c0003t0015 a0001c0003t0019 a0002c0004t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(192): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0158 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0197 a0001c0001t0001g0223 a0001c0001t0001g0227 a0001c0001t0001g0233 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0265 a0001c0001t0001g0268 a0001c0001t0001g0277 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0288 a0001c0001t0001g0306 a0001c0001t0001g0318 a0001c0001t0001g0350 a0001c0001t0002g0001 a0001c0001t0002g0013 a0001c0001t0002g0023 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0028 a0001c0001t0002g0035 a0001c0001t0002g0046 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0124 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0131 a0001c0001t0002g0133 a0001c0001t0002g0146 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0169 a0001c0001t0002g0183 a0001c0001t0002g0196 a0001c0001t0002g0204 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0255 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0287 a0001c0001t0002g0295 a0001c0001t0002g0303 a0001c0001t0002g0308 a0001c0001t0002g0310 a0001c0001t0002g0322 a0001c0001t0002g0328 a0001c0001t0002g0330 a0001c0001t0002g0341 a0001c0001t0002g0342 a0001c0001t0002g0343 a0001c0001t0002g0366 a0001c0001t0002g0367 a0001c0001t0002g0368 a0001c0001t0003g0010 a0001c0001t0003g0024 a0001c0001t0003g0033 a0001c0001t0003g0052 a0001c0001t0003g0081 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0105 a0001c0001t0003g0138 a0001c0001t0003g0142 a0001c0001t0003g0173 a0001c0001t0003g0200 a0001c0001t0003g0222 a0001c0001t0003g0247 a0001c0001t0003g0256 a0001c0001t0003g0257 a0001c0001t0003g0274 a0001c0001t0003g0294 a0001c0001t0003g0296 a0001c0001t0003g0316 a0001c0001t0003g0331 a0001c0001t0006g0019 a0001c0001t0006g0032 a0001c0001t0006g0125 a0001c0001t0006g0199 a0001c0001t0010g0215 a0001c0001t0010g0224 a0001c0001t0010g0228 a0001c0001t0010g0269 a0001c0001t0010g0329 a0001c0001t0011g0132 a0001c0001t0011g0299 a0001c0001t0011g0334 a0001c0001t0011g0345 a0001c0001t0012g0370 a0001c0001t0012g0371 a0001c0001t0012g0373 a0001c0001t0014g0031 a0001c0001t0014g0372 a0001c0001t0017g0246 a0001c0002t0004g0198 a0001c0002t0004g0346 a0001c0002t0004g0347 a0001c0002t0004g0348 a0001c0002t0004g0349 a0001c0003t0005g0029 a0001c0003t0005g0030 a0001c0003t0005g0091 a0001c0003t0005g0092 a0001c0003t0005g0093 a0001c0003t0005g0095 a0001c0003t0005g0148 a0001c0003t0005g0185 a0001c0003t0005g0235 a0001c0003t0005g0285 a0001c0003t0005g0352 a0001c0003t0005g0353 a0001c0003t0005g0354 a0001c0003t0005g0355 a0001c0003t0005g0356 a0001c0003t0005g0357 a0001c0003t0005g0358 a0001c0003t0005g0359 a0001c0003t0005g0361 a0001c0003t0005g0363 a0001c0003t0015g0094 a0001c0003t0015g0364 a0001c0003t0019g0360 a0002c0004t0001g0266	220	412	0.5340	-6	c.-15 others(25): Show c.-153-6514_-153-6509delCATCAT	SMCO4	ENSG00000166002.7	transcript	ENST00000298966.7	protein_coding	1/2			chr11	TogoVar
SMCO4_chr11_93473472_93548391	93514374	CTATATA CTATATA	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02074.hp1 HG02970.hp1 others(1): Show HG00558.hp1 HG02074.hp1 HG02970.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0115 a0001c0001t0003g0079 a0001c0001t0003g0105 others(1): Show a0001c0001t0002g0115 a0001c0001t0003g0079 a0001c0001t0003g0105 a0001c0001t0003g0247	4	412	0.0097	-6	c.-15 others(27): Show c.-153-15032_-153-15027delTATATA	SMCO4	ENSG00000166002.7	transcript	ENST00000298966.7	protein_coding	1/2			chr11	TogoVar
SMCO4_chr11_93473472_93548391	93534215	TACACAC TACACAC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG03490.hp2 HG03492.hp2 others(2): Show HG00642.hp1 HG03490.hp2 HG03492.hp2 HG03927.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0027 a0001c0001t0001g0058 a0001c0001t0001g0234 others(1): Show a0001c0001t0001g0027 a0001c0001t0001g0058 a0001c0001t0001g0234 a0001c0001t0003g0213	5	412	0.0121	-6	c.-15 others(25): Show c.-154+9055_-154+9060delGTGTGT	SMCO4	ENSG00000166002.7	transcript	ENST00000298966.7	protein_coding	1/2			chr11	TogoVar
SMCO4_chr11_93473472_93548391	93534357	CATATAT CATATAT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01169.hp1 HG01243.hp1 others(12): Show HG01081.hp2 HG01169.hp1 HG01243.hp1 HG01884.hp1 HG02004.hp2 HG02145.hp2 HG02486.hp2 HG02622.hp2 HG02965.hp1 HG03209.hp2 HG03486.hp1 HG03540.hp1 HG03540.hp2 NA18906.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0001t0014 a0001c0002t0004 a0001c0002t0013 a0001c0002t0023	a0001c0001t0002g0156 a0001c0001t0002g0308 a0001c0001t0002g0311 others(11): Show a0001c0001t0002g0156 a0001c0001t0002g0308 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0003g0081 a0001c0001t0003g0316 a0001c0001t0003g0317 a0001c0001t0012g0371 a0001c0001t0014g0031 a0001c0001t0014g0372 a0001c0002t0004g0313 a0001c0002t0004g0315 a0001c0002t0013g0314 a0001c0002t0023g0047	15	412	0.0364	-6	c.-15 others(25): Show c.-154+8913_-154+8918delATATAT	SMCO4	ENSG00000166002.7	transcript	ENST00000298966.7	protein_coding	1/2			chr11	TogoVar
SMG1_chr16_18799860_18931408	18803059	CTTTTTT CTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02622.hp1 HG02647.hp1 others(3): Show HG02280.hp1 HG02622.hp1 HG02647.hp1 HG02886.hp1 HG03195.hp1 HG03540.hp1	a0001 a0012 a0001 a0012	a0001c0004 a0012c0021 a0001c0004 a0012c0021	a0001c0004t0007 a0001c0004t0016 a0012c0021t0007 a0001c0004t0007 a0001c0004t0016 a0012c0021t0007	a0001c0004t0007g0006 a0001c0004t0007g0007 a0001c0004t0007g0009 others(3): Show a0001c0004t0007g0006 a0001c0004t0007g0007 a0001c0004t0007g0009 a0001c0004t0007g0010 a0001c0004t0016g0005 a0012c0021t0007g0008	6	300	0.0200	-6	c.65 others(17): Show c.6504_*6509delAAAAAA	SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding		1800		chr16	TogoVar
SMG1_chr16_18799860_18931408	18812609	TACATAC TACATAC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp1 HG00558.hp2 others(39): Show HG00423.hp1 HG00544.hp1 HG00558.hp2 HG00642.hp1 HG00741.hp2 HG01081.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01257.hp1 HG01361.hp1 HG01496.hp1 HG01515.hp1 HG01975.hp1 HG01993.hp2 HG02056.hp2 HG02083.hp1 HG02135.hp2 HG02602.hp1 HG02630.hp2 HG02922.hp1 HG03098.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG04184.hp1 NA18612.hp1 NA18747.hp2 NA18941.hp1 NA18945.hp1 NA18946.hp1 NA18955.hp1 NA18962.hp2 NA18969.hp2 NA18973.hp1 NA18990.hp1 NA18993.hp1 NA19009.hp2 NA19043.hp1 NA19077.hp2 NA20300.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0007 a0001c0010 a0001c0016 others(4): Show a0001c0007 a0001c0010 a0001c0016 a0001c0025 a0002c0005 a0003c0006 a0003c0017	a0001c0007t0003 a0001c0007t0023 a0001c0007t0028 others(7): Show a0001c0007t0003 a0001c0007t0023 a0001c0007t0028 a0001c0010t0003 a0001c0010t0026 a0001c0016t0003 a0001c0025t0003 a0002c0005t0003 a0003c0006t0003 a0003c0017t0003	a0001c0007t0003g0176 a0001c0007t0003g0195 a0001c0007t0003g0196 others(39): Show a0001c0007t0003g0176 a0001c0007t0003g0195 a0001c0007t0003g0196 a0001c0007t0003g0210 a0001c0007t0003g0211 a0001c0007t0003g0214 a0001c0007t0003g0215 a0001c0007t0023g0026 a0001c0007t0028g0219 a0001c0010t0003g0181 a0001c0010t0003g0194 a0001c0010t0026g0207 a0001c0016t0003g0197 a0001c0016t0003g0204 a0001c0025t0003g0193 a0002c0005t0003g0177 a0002c0005t0003g0178 a0002c0005t0003g0179 a0002c0005t0003g0180 a0002c0005t0003g0183 a0002c0005t0003g0185 a0002c0005t0003g0186 a0002c0005t0003g0187 a0002c0005t0003g0191 a0002c0005t0003g0203 a0002c0005t0003g0206 a0002c0005t0003g0208 a0002c0005t0003g0209 a0002c0005t0003g0212 a0003c0006t0003g0182 a0003c0006t0003g0184 a0003c0006t0003g0188 a0003c0006t0003g0189 a0003c0006t0003g0190 a0003c0006t0003g0192 a0003c0006t0003g0198 a0003c0006t0003g0199 a0003c0006t0003g0200 a0003c0006t0003g0201 a0003c0006t0003g0202 a0003c0006t0003g0213 a0003c0017t0003g0205	42	300	0.1400	-6	c.106 others(25): Show c.10622-488_10622-483delGTATGT	SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding	60/62			chr16	TogoVar
SMG1_chr16_18799860_18931408	18844474	TACACAC TACACAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00438.hp1 others(30): Show HG00140.hp2 HG00408.hp1 HG00438.hp1 HG00558.hp1 HG01255.hp2 HG01257.hp2 HG01346.hp2 HG01361.hp2 HG01515.hp2 HG01517.hp2 HG01952.hp2 HG01978.hp2 HG02080.hp1 HG02165.hp2 HG02698.hp1 HG02717.hp2 HG03704.hp2 HG03831.hp2 HG03834.hp1 NA18747.hp1 NA18950.hp1 NA18952.hp2 NA18969.hp1 NA18982.hp2 NA18986.hp1 NA18994.hp1 NA19006.hp2 NA19011.hp1 NA19011.hp2 NA19070.hp2 NA19081.hp2 NA19085.hp1 NA20129.hp1	a0001 a0007 a0008 a0001 a0007 a0008	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0001c0014 a0001c0022 a0001c0029 a0007c0034 a0008c0028	a0001c0001t0001 a0001c0002t0002 a0001c0003t0001 others(6): Show a0001c0001t0001 a0001c0002t0002 a0001c0003t0001 a0001c0008t0001 a0001c0014t0001 a0001c0022t0001 a0001c0029t0001 a0007c0034t0001 a0008c0028t0001	a0001c0001t0001g0027 a0001c0001t0001g0033 a0001c0001t0001g0039 others(30): Show a0001c0001t0001g0027 a0001c0001t0001g0033 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0054 a0001c0001t0001g0061 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0086 a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0113 a0001c0001t0001g0123 a0001c0001t0001g0170 a0001c0002t0002g0278 a0001c0002t0002g0279 a0001c0002t0002g0286 a0001c0003t0001g0146 a0001c0008t0001g0081 a0001c0008t0001g0082 a0001c0008t0001g0093 a0001c0008t0001g0172 a0001c0014t0001g0069 a0001c0014t0001g0088 a0001c0022t0001g0091 a0001c0029t0001g0046 a0007c0034t0001g0106 a0008c0028t0001g0047	33	300	0.1100	-6	c.621 others(23): Show c.6219+949_6219+954delGTGTGT	SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding	39/62			chr16	TogoVar
SMG1_chr16_18799860_18931408	18874866	CAAAAAA CAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02258.hp2 HG02572.hp2 others(10): Show HG02109.hp2 HG02258.hp2 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02886.hp2 HG02895.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03130.hp2 NA19240.hp1 NA19240.hp2	a0001 a0006 a0010 others(1): Show a0001 a0006 a0010 a0014	a0001c0001 a0001c0003 a0001c0015 others(4): Show a0001c0001 a0001c0003 a0001c0015 a0001c0026 a0006c0013 a0010c0019 a0014c0024	a0001c0001t0012 a0001c0003t0001 a0001c0003t0006 others(5): Show a0001c0001t0012 a0001c0003t0001 a0001c0003t0006 a0001c0015t0006 a0001c0026t0001 a0006c0013t0001 a0010c0019t0004 a0014c0024t0001	a0001c0001t0012g0003 a0001c0003t0001g0037 a0001c0003t0001g0136 others(10): Show a0001c0001t0012g0003 a0001c0003t0001g0037 a0001c0003t0001g0136 a0001c0003t0001g0164 a0001c0003t0006g0032 a0001c0003t0006g0044 a0001c0003t0006g0147 a0001c0015t0006g0148 a0001c0015t0006g0167 a0001c0026t0001g0165 a0006c0013t0001g0145 a0010c0019t0004g0022 a0014c0024t0001g0135	13	300	0.0433	-6	c.189 others(25): Show c.1890+1252_1890+1257delTTTTTT	SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding	13/62			chr16	TogoVar
SMG1_chr16_18799860_18931408	18919655	TATACAC TATACAC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01952.hp2 HG02970.hp1 others(1): Show HG00408.hp1 HG01952.hp2 HG02970.hp1 HG03579.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0003 a0007c0034 a0001c0001 a0001c0003 a0007c0034	a0001c0001t0001 a0001c0003t0001 a0007c0034t0001 a0001c0001t0001 a0001c0003t0001 a0007c0034t0001	a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0003t0001g0034 others(1): Show a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0003t0001g0034 a0007c0034t0001g0106	4	300	0.0133	-6	c.92+ others(21): Show c.92+6289_92+6294delGTGTAT	SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding	1/62			chr16	TogoVar
SMG1_chr16_18799860_18931408	18919657	TACACAC TACACAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00423.hp2 others(59): Show HG00140.hp2 HG00280.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00642.hp2 HG01109.hp2 HG01169.hp2 HG01175.hp2 HG01255.hp2 HG01257.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01515.hp2 HG01517.hp2 HG01928.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02027.hp1 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp1 HG02683.hp2 HG02698.hp1 HG02738.hp2 HG03139.hp2 HG03491.hp1 HG03492.hp2 HG03654.hp1 HG03669.hp1 HG03704.hp2 HG06807.hp1 NA18522.hp1 NA18939.hp2 NA18946.hp2 NA18950.hp1 NA18952.hp2 NA18963.hp1 NA18964.hp1 NA18973.hp2 NA18974.hp2 NA18986.hp2 NA18989.hp2 NA18991.hp1 NA18994.hp1 NA19007.hp1 NA19009.hp1 NA19011.hp2 NA19056.hp1 NA19056.hp2 NA19063.hp2 NA19070.hp1 NA19077.hp1 NA19081.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0001c0002 a0001c0008 others(3): Show a0001c0001 a0001c0002 a0001c0008 a0001c0014 a0001c0022 a0011c0032	a0001c0001t0001 a0001c0001t0012 a0001c0001t0025 others(5): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0025 a0001c0002t0002 a0001c0008t0001 a0001c0014t0001 a0001c0022t0001 a0011c0032t0001	a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 others(59): Show a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0170 a0001c0001t0012g0002 a0001c0001t0025g0175 a0001c0002t0002g0226 a0001c0002t0002g0230 a0001c0002t0002g0231 a0001c0002t0002g0232 a0001c0002t0002g0233 a0001c0008t0001g0057 a0001c0008t0001g0080 a0001c0008t0001g0081 a0001c0008t0001g0082 a0001c0008t0001g0093 a0001c0008t0001g0094 a0001c0008t0001g0104 a0001c0014t0001g0069 a0001c0014t0001g0088 a0001c0022t0001g0091 a0011c0032t0001g0097	62	300	0.2067	-6	c.92+ others(21): Show c.92+6287_92+6292delGTGTGT	SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding	1/62			chr16	TogoVar
SMG1_chr16_18799860_18931408	18926156	AAGGAGG AAGGAGG	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02109.hp1 HG02145.hp2 HG02451.hp2 others(3): Show HG02109.hp1 HG02145.hp2 HG02451.hp2 HG02809.hp2 HG03471.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0008 a0001c0009t0008 a0001c0009t0029 a0001c0001t0008 a0001c0009t0008 a0001c0009t0029	a0001c0001t0008g0220 a0001c0001t0008g0221 a0001c0009t0008g0222 others(3): Show a0001c0001t0008g0220 a0001c0001t0008g0221 a0001c0009t0008g0222 a0001c0009t0008g0223 a0001c0009t0008g0224 a0001c0009t0029g0225	6	300	0.0200	-6	c.-12 others(15): Show c.-121_-116delCCTCCT	SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding	1/63	116		chr16	TogoVar
SMG5_chr1_156244224_156287825	156256306	CTCTCTT CTCTCTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00423.hp1 others(78): Show HG00140.hp2 HG00323.hp1 HG00423.hp1 HG00558.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01074.hp1 HG01099.hp1 HG01123.hp2 HG01175.hp1 HG01243.hp1 HG01256.hp1 HG01257.hp1 HG01346.hp2 HG01358.hp2 HG01517.hp2 HG01884.hp1 HG01928.hp1 HG01943.hp1 HG01975.hp1 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02027.hp2 HG02056.hp2 HG02074.hp2 HG02083.hp1 HG02129.hp1 HG02148.hp2 HG02273.hp1 HG02523.hp1 HG02602.hp1 HG02602.hp2 HG02698.hp1 HG02698.hp2 HG02809.hp2 HG03239.hp2 HG03471.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG04199.hp1 HG04199.hp2 NA18939.hp2 NA18942.hp1 NA18952.hp2 NA18956.hp2 NA18959.hp2 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18969.hp1 NA18973.hp2 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18985.hp1 NA18986.hp2 NA18998.hp1 NA18999.hp1 NA19004.hp1 NA19007.hp1 NA19043.hp1 NA19054.hp1 NA19068.hp1 NA19070.hp2 NA19074.hp2 NA19078.hp1 NA19080.hp1 NA19082.hp2 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19240.hp2 NA20752.hp2	a0001 a0006 a0001 a0006	a0001c0002 a0006c0011 a0001c0002 a0006c0011	a0001c0002t0001 a0001c0002t0005 a0001c0002t0008 others(3): Show a0001c0002t0001 a0001c0002t0005 a0001c0002t0008 a0001c0002t0011 a0001c0002t0012 a0006c0011t0001	a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0007 others(67): Show a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0005g0050 a0001c0002t0005g0067 a0001c0002t0005g0068 a0001c0002t0008g0033 a0001c0002t0011g0082 a0001c0002t0012g0099 a0006c0011t0001g0035	81	368	0.2201	-6	c.244 others(25): Show c.2442+2693_2442+2698delAAGAGA	SMG5	ENSG00000198952.8	transcript	ENST00000361813.5	protein_coding	16/21			chr1	TogoVar
SMG5_chr1_156244224_156287825	156265036	TACACAC TACACAC	T T	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02083.hp1 NA18959.hp2 HG02027.hp2 HG02083.hp1 NA18959.hp2	a0001 a0006 a0001 a0006	a0001c0002 a0006c0011 a0001c0002 a0006c0011	a0001c0002t0001 a0006c0011t0001 a0001c0002t0001 a0006c0011t0001	a0001c0002t0001g0085 a0001c0002t0001g0086 a0006c0011t0001g0035 a0001c0002t0001g0085 a0001c0002t0001g0086 a0006c0011t0001g0035	3	368	0.0082	-6	c.185 others(23): Show c.1855+739_1855+744delGTGTGT	SMG5	ENSG00000198952.8	transcript	ENST00000361813.5	protein_coding	12/21			chr1	TogoVar
SMG6_chr17_2054843_2308785	2066652	TACACAC TACACAC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01168.hp1 HG01243.hp2 others(7): Show HG01081.hp1 HG01168.hp1 HG01243.hp2 HG02615.hp1 HG02809.hp1 HG02886.hp2 HG03139.hp2 HG03516.hp1 HG03834.hp1 NA18960.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0014	a0001c0001 a0002c0002 a0005c0006 others(1): Show a0001c0001 a0002c0002 a0005c0006 a0014c0030	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0002c0002t0001 a0005c0006t0004 a0014c0030t0001	a0001c0001t0001g0190 a0001c0001t0001g0213 a0001c0001t0003g0268 others(7): Show a0001c0001t0001g0190 a0001c0001t0001g0213 a0001c0001t0003g0268 a0001c0001t0004g0187 a0001c0001t0006g0131 a0001c0001t0006g0132 a0001c0001t0006g0133 a0002c0002t0001g0043 a0005c0006t0004g0060 a0014c0030t0001g0066	10	278	0.0360	-6	c.383 others(23): Show c.3836-979_3836-974delGTGTGT	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	16/18			chr17	TogoVar
SMG6_chr17_2054843_2308785	2121587	CTGTGTG CTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01099.hp1 HG01978.hp2 others(8): Show HG00609.hp1 HG01099.hp1 HG01978.hp2 HG02135.hp2 HG02615.hp1 HG03516.hp1 HG03710.hp2 NA18957.hp2 NA19066.hp1 NA19079.hp1 NA19080.hp2	a0001 a0003 a0011 a0001 a0003 a0011	a0001c0001 a0003c0003 a0011c0010 a0001c0001 a0003c0003 a0011c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0003c0003t0001 a0011c0010t0002	a0001c0001t0001g0188 a0001c0001t0001g0236 a0001c0001t0001g0239 others(8): Show a0001c0001t0001g0188 a0001c0001t0001g0236 a0001c0001t0001g0239 a0001c0001t0001g0254 a0001c0001t0002g0234 a0001c0001t0002g0245 a0001c0001t0003g0195 a0001c0001t0006g0132 a0001c0001t0006g0133 a0003c0003t0001g0139 a0011c0010t0002g0261	11	278	0.0396	-6	c.335 others(27): Show c.3358-35692_3358-35687delCACACA	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	13/18			chr17	TogoVar
SMG6_chr17_2054843_2308785	2135996	ATGTGTG ATGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01071.hp1 HG01074.hp2 others(22): Show HG00609.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01109.hp1 HG01123.hp2 HG01255.hp2 HG01496.hp2 HG01884.hp1 HG01934.hp2 HG01943.hp2 HG02273.hp1 HG02280.hp1 HG02615.hp1 HG02809.hp1 HG02886.hp2 HG02976.hp1 HG03209.hp2 HG03516.hp1 HG03654.hp1 HG03688.hp2 HG03710.hp1 HG03831.hp2 NA18983.hp2 NA19091.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0021	a0001c0001 a0001c0020 a0002c0002 others(3): Show a0001c0001 a0001c0020 a0002c0002 a0003c0003 a0005c0006 a0021c0026	a0001c0001t0006 a0001c0020t0004 a0002c0002t0001 others(6): Show a0001c0001t0006 a0001c0020t0004 a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 a0003c0003t0002 a0003c0003t0005 a0005c0006t0004 a0021c0026t0016	a0001c0001t0006g0131 a0001c0001t0006g0132 a0001c0001t0006g0133 others(22): Show a0001c0001t0006g0131 a0001c0001t0006g0132 a0001c0001t0006g0133 a0001c0020t0004g0129 a0002c0002t0001g0065 a0002c0002t0001g0080 a0002c0002t0002g0047 a0002c0002t0002g0125 a0003c0003t0001g0001 a0003c0003t0001g0138 a0003c0003t0001g0141 a0003c0003t0001g0145 a0003c0003t0001g0152 a0003c0003t0001g0155 a0003c0003t0001g0158 a0003c0003t0001g0159 a0003c0003t0001g0167 a0003c0003t0002g0143 a0003c0003t0002g0153 a0003c0003t0002g0160 a0003c0003t0002g0180 a0003c0003t0005g0154 a0003c0003t0005g0166 a0005c0006t0004g0060 a0021c0026t0016g0110	25	278	0.0899	-6	c.335 others(27): Show c.3357+36656_3357+36661delCACACA	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	13/18			chr17	TogoVar
SMG6_chr17_2054843_2308785	2171356	AGTGTGT AGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01243.hp1 HG02451.hp1 others(1): Show HG01109.hp2 HG01243.hp1 HG02451.hp1 HG02622.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0008 a0001c0001 a0009c0008	a0001c0001t0003 a0009c0008t0003 a0009c0008t0009 a0001c0001t0003 a0009c0008t0003 a0009c0008t0009	a0001c0001t0003g0189 a0001c0001t0003g0207 a0009c0008t0003g0222 others(1): Show a0001c0001t0003g0189 a0001c0001t0003g0207 a0009c0008t0003g0222 a0009c0008t0009g0224	4	278	0.0144	-6	c.335 others(25): Show c.3357+1296_3357+1301delACACAC	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	13/18			chr17	TogoVar
SMG6_chr17_2054843_2308785	2183745	GACACAC GACACAC	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00621.hp2 HG00639.hp2 others(22): Show HG00597.hp1 HG00621.hp2 HG00639.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01099.hp1 HG01099.hp2 HG01517.hp2 HG01952.hp1 HG01978.hp1 HG01981.hp2 HG02015.hp1 HG02145.hp1 HG02148.hp1 NA18948.hp2 NA18951.hp2 NA18964.hp2 NA18971.hp1 NA18982.hp2 NA19066.hp1 NA19079.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0011	a0001c0001 a0003c0003 a0005c0006 others(2): Show a0001c0001 a0003c0003 a0005c0006 a0005c0013 a0011c0010	a0001c0001t0001 a0001c0001t0002 a0003c0003t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0003c0003t0001 a0003c0003t0002 a0003c0003t0015 a0003c0003t0019 a0005c0006t0004 a0005c0013t0001 a0011c0010t0001 a0011c0010t0002	a0001c0001t0001g0188 a0001c0001t0001g0232 a0001c0001t0001g0239 others(22): Show a0001c0001t0001g0188 a0001c0001t0001g0232 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0267 a0001c0001t0001g0271 a0001c0001t0002g0265 a0003c0003t0001g0142 a0003c0003t0001g0148 a0003c0003t0001g0150 a0003c0003t0001g0156 a0003c0003t0001g0171 a0003c0003t0001g0174 a0003c0003t0001g0175 a0003c0003t0002g0149 a0003c0003t0002g0173 a0003c0003t0002g0179 a0003c0003t0002g0217 a0003c0003t0015g0178 a0003c0003t0019g0172 a0005c0006t0004g0022 a0005c0013t0001g0007 a0011c0010t0001g0228 a0011c0010t0001g0247 a0011c0010t0002g0261	25	278	0.0899	-6	c.315 others(25): Show c.3155+2912_3155+2917delGTGTGT	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	12/18			chr17	TogoVar
SMG6_chr17_2054843_2308785	2194707	CAAAACA CAAAACA	C C	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03130.hp1 HG03195.hp1 others(2): Show HG02809.hp2 HG03130.hp1 HG03195.hp1 HG06807.hp1 NA19240.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0008 a0004c0004t0002 a0004c0004t0008	a0004c0004t0002g0085 a0004c0004t0008g0016 a0004c0004t0008g0054 others(2): Show a0004c0004t0002g0085 a0004c0004t0008g0016 a0004c0004t0008g0054 a0004c0004t0008g0055 a0004c0004t0008g0056	5	278	0.0180	-6	c.287 others(25): Show c.2870-6198_2870-6193delTGTTTT	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	10/18			chr17	TogoVar
SMG6_chr17_2054843_2308785	2222549	CGGGGGG CGGGGGG	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01243.hp2 HG01257.hp1 others(21): Show HG00642.hp2 HG01243.hp2 HG01257.hp1 HG02129.hp2 HG02132.hp1 HG02280.hp1 HG02683.hp1 HG02886.hp1 HG02922.hp2 HG03041.hp1 HG03041.hp2 HG03225.hp1 HG03704.hp2 HG03834.hp2 NA18522.hp2 NA18942.hp2 NA18951.hp1 NA18965.hp2 NA18983.hp1 NA18999.hp1 NA19011.hp2 NA19065.hp2 NA19091.hp1 NA20752.hp1	a0002 a0004 a0006 others(2): Show a0002 a0004 a0006 a0013 a0014	a0002c0002 a0002c0034 a0004c0004 others(3): Show a0002c0002 a0002c0034 a0004c0004 a0006c0005 a0013c0033 a0014c0030	a0002c0002t0001 a0002c0002t0002 a0002c0002t0023 others(5): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0023 a0002c0034t0001 a0004c0004t0004 a0006c0005t0001 a0013c0033t0002 a0014c0030t0001	a0002c0002t0001g0014 a0002c0002t0001g0018 a0002c0002t0001g0064 others(21): Show a0002c0002t0001g0014 a0002c0002t0001g0018 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0087 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0130 a0002c0002t0002g0061 a0002c0002t0002g0067 a0002c0002t0002g0084 a0002c0002t0023g0063 a0002c0034t0001g0099 a0004c0004t0004g0091 a0006c0005t0001g0111 a0013c0033t0002g0098 a0014c0030t0001g0066	24	278	0.0863	-6	c.286 others(27): Show c.2869+13937_2869+13942delCCCCCC	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	10/18			chr17	TogoVar
SMG6_chr17_2054843_2308785	2230216	AAAAAAG AAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01175.hp1 HG01891.hp2 others(28): Show HG00621.hp2 HG01175.hp1 HG01891.hp2 HG01978.hp2 HG01981.hp1 HG02027.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp1 HG02257.hp1 HG02258.hp1 HG02486.hp1 HG02523.hp1 HG02738.hp2 HG02922.hp1 HG03017.hp1 HG03225.hp2 HG03688.hp1 HG03710.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18942.hp1 NA18943.hp2 NA19005.hp1 NA19063.hp2 NA19065.hp1 NA19066.hp1 NA19084.hp1 NA20905.hp1	a0001 a0003 a0005 others(2): Show a0001 a0003 a0005 a0007 a0011	a0001c0001 a0001c0024 a0003c0003 others(3): Show a0001c0001 a0001c0024 a0003c0003 a0005c0006 a0007c0007 a0011c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0026 a0001c0001t0027 a0001c0024t0001 a0003c0003t0001 a0005c0006t0004 a0007c0007t0001 a0011c0010t0002	a0001c0001t0001g0230 a0001c0001t0001g0235 a0001c0001t0001g0240 others(28): Show a0001c0001t0001g0230 a0001c0001t0001g0235 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0257 a0001c0001t0001g0269 a0001c0001t0002g0245 a0001c0001t0002g0258 a0001c0001t0003g0193 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0210 a0001c0001t0005g0244 a0001c0001t0009g0212 a0001c0001t0009g0214 a0001c0001t0026g0003 a0001c0001t0027g0202 a0001c0024t0001g0275 a0003c0003t0001g0157 a0005c0006t0004g0022 a0005c0006t0004g0102 a0005c0006t0004g0103 a0005c0006t0004g0105 a0007c0007t0001g0025 a0007c0007t0001g0026 a0011c0010t0002g0261	31	278	0.1115	-6	c.286 others(25): Show c.2869+6270_2869+6275delCTTTTT	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	10/18			chr17	TogoVar

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