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
RSAD1_chr17_50473860_50490974	50476222	G G	GCAGCGCG others(41): Show GCAGCGCGCCTGCCCCCTTACCTCGCAGCGCGCCTGCCCCCTTACCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0009 a0001c0003t0003g0009	1	372	0.0027	48	c.-26 others(59): Show c.-2663_-2662insCAGCGCGCCTGCCCCCTTACCTCGCAGCGCGCCT GCCCCCTTACCTCC	RSAD1	ENSG00000136444.10	transcript	ENST00000258955.7	protein_coding		2637		chr17	TogoVar
RSAD1_chr17_50473860_50490974	50476342	G G	GCAGCGCG others(41): Show GCAGCGCGCCTGCCCCCTTACCTCGCAGCGCGCCTGCCTCCTTACCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0003 a0001c0003t0002g0003	1	380	0.0026	48	c.-25 others(59): Show c.-2543_-2542insCAGCGCGCCTGCCCCCTTACCTCGCAGCGCGCCT GCCTCCTTACCTCC	RSAD1	ENSG00000136444.10	transcript	ENST00000258955.7	protein_coding		2517		chr17	TogoVar
RSPRY1_chr16_57181329_57245469	57200652	G G	GGGCTGGG others(41): Show GGGCTGGGGGCTGGCCCCCCGCCTCCCTCGCGGAAGGGGCGGCTGGCCA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0018 a0002c0002t0018	a0002c0002t0018g0284 a0002c0002t0018g0284	1	356	0.0028	48	c.-15 others(67): Show c.-155-3849_-155-3848insTGGGGGCTGGCCCCCCGCCTCCCTCG CGGAAGGGGCGGCTGGCCAGGC	RSPRY1	ENSG00000159579.14	transcript	ENST00000394420.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
RSPRY1_chr16_57181329_57245469	57200661	G G	GCTGACCC others(41): Show GCTGACCCCCCGCCTCCCTCGCGGAAGGGGCGGCTGGCCAGGCGGGGGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(334): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04184.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0003t0001 a0001c0003t0007 a0001c0004t0001 a0002c0002t0012	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(320): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0167 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0210 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0248 a0001c0001t0001g0254 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0002g0002 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0016 a0001c0001t0002g0157 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0162 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0198 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0224 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0231 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0250 a0001c0001t0002g0253 a0001c0001t0002g0259 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0272 a0001c0001t0002g0280 a0001c0001t0002g0282 a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0011 a0001c0001t0003g0013 a0001c0001t0003g0307 a0001c0001t0003g0308 a0001c0001t0003g0309 a0001c0001t0003g0310 a0001c0001t0003g0311 a0001c0001t0003g0312 a0001c0001t0003g0313 a0001c0001t0003g0315 a0001c0001t0003g0316 a0001c0001t0003g0317 a0001c0001t0003g0318 a0001c0001t0003g0319 a0001c0001t0003g0320 a0001c0001t0003g0321 a0001c0001t0003g0322 a0001c0001t0003g0323 a0001c0001t0003g0324 a0001c0001t0003g0325 a0001c0001t0003g0326 a0001c0001t0003g0327 a0001c0001t0003g0328 a0001c0001t0003g0329 a0001c0001t0003g0330 a0001c0001t0003g0331 a0001c0001t0003g0332 a0001c0001t0003g0333 a0001c0001t0003g0334 a0001c0001t0003g0335 a0001c0001t0003g0336 a0001c0001t0003g0337 a0001c0001t0003g0338 a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0056 a0001c0001t0004g0057 a0001c0001t0004g0136 a0001c0001t0004g0138 a0001c0001t0004g0153 a0001c0001t0005g0037 a0001c0001t0005g0083 a0001c0001t0005g0124 a0001c0001t0005g0134 a0001c0001t0005g0141 a0001c0001t0005g0142 a0001c0001t0005g0260 a0001c0001t0007g0048 a0001c0001t0007g0286 a0001c0001t0007g0287 a0001c0001t0008g0005 a0001c0001t0008g0026 a0001c0001t0008g0163 a0001c0001t0008g0164 a0001c0001t0009g0199 a0001c0001t0009g0223 a0001c0001t0009g0251 a0001c0001t0010g0169 a0001c0001t0010g0171 a0001c0001t0010g0172 a0001c0001t0011g0218 a0001c0001t0011g0275 a0001c0001t0013g0011 a0001c0001t0013g0306 a0001c0001t0014g0003 a0001c0001t0014g0012 a0001c0001t0015g0183 a0001c0001t0016g0137 a0001c0001t0017g0288 a0001c0001t0019g0119 a0001c0001t0020g0168 a0001c0001t0022g0276 a0001c0001t0023g0305 a0001c0001t0024g0012 a0001c0001t0025g0170 a0001c0001t0026g0237 a0001c0003t0001g0123 a0001c0003t0007g0032 a0001c0004t0001g0054 a0002c0002t0012g0283 a0002c0002t0012g0285	337	346	0.9740	48	c.-15 others(67): Show c.-155-3833_-155-3832insGCCTCCCTCGCGGAAGGGGCGGCTGG CCAGGCGGGGGACTGACCCCCC	RSPRY1	ENSG00000159579.14	transcript	ENST00000394420.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
RSPRY1_chr16_57181329_57245469	57200661	G G	GCTGACCC others(41): Show GCTGACCCCCCGCCTCCCTCGTGGAAGGGGCGGCTGGCCAGGCGGGGGA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01070.hp2 HG01515.hp1 others(3): Show HG00280.hp1 HG01070.hp2 HG01515.hp1 HG02647.hp1 HG03579.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0021 a0001c0001t0006 a0001c0001t0021	a0001c0001t0006g0135 a0001c0001t0006g0148 a0001c0001t0006g0149 others(3): Show a0001c0001t0006g0135 a0001c0001t0006g0148 a0001c0001t0006g0149 a0001c0001t0006g0150 a0001c0001t0006g0151 a0001c0001t0021g0152	6	15	0.4000	48	c.-15 others(67): Show c.-155-3833_-155-3832insGCCTCCCTCGTGGAAGGGGCGGCTGG CCAGGCGGGGGACTGACCCCCC	RSPRY1	ENSG00000159579.14	transcript	ENST00000394420.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
RSRC1_chr3_158105089_158550730	158202562	T T	TTATATAT others(41): Show TTATATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	78	0.0128	48	c.321 others(63): Show c.321-491_321-490insATATATATATATATATATATATATATATAT ATATATATATATATATAT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158202562	T T	TTTTATAT others(41): Show TTTTATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp2 NA18522.hp1 HG01243.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0215 a0001c0001t0002g0023 a0001c0001t0001g0215 a0001c0001t0002g0023	2	79	0.0253	48	c.321 others(63): Show c.321-509_321-508insTTATATATATATATATATATATATATATAT ATATATATATATATATAT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158477798	T T	TTTTATAT others(41): Show TTTTATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA19088.hp1 HG02056.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0002 a0001c0001t0011	a0001c0001t0002g0236 a0001c0001t0011g0082 a0001c0001t0002g0236 a0001c0001t0011g0082	2	22	0.0909	48	c.652 others(67): Show c.652+16796_652+16797insTTATATATATATATATATATATATAT ATATATATATATATATATATAT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSU1_chr10_16585611_16822424	16722855	T T	TATACATA others(41): Show TATACATATATGTATATATACACACATATACATATATGTATATATACAC	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0088 a0001c0002t0001g0088	1	71	0.0141	48	c.599 others(67): Show c.599-27701_599-27700insGTGTATATATACATATATGTATATGT GTGTATATATACATATATGTAT	RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	7/8			chr10	TogoVar
RSU1_chr10_16585611_16822424	16722855	T T	TATACATA others(41): Show TATACATATATGTATATATACACATATACATATATGTATATATACACAC	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0061 a0001c0002t0002g0061	1	71	0.0141	48	c.599 others(67): Show c.599-27701_599-27700insGTGTGTATATATACATATATGTATAT GTGTATATATACATATATGTAT	RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	7/8			chr10	TogoVar
RSU1_chr10_16585611_16822424	16785431	T T	TATATATA others(41): Show TATATATATACACATATATACATATATACATATATATACACATATATAC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0075 a0001c0001t0004g0075	1	149	0.0067	48	c.110 others(65): Show c.110-3348_110-3347insGTATATATGTGTATATATATGTATATAT GTATATATGTGTATATATAT	RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	2/8			chr10	TogoVar
RTEL1_chr20_63653312_63701245	63693459	A A	ACCACCTC others(41): Show ACCACCTCCACCTCCACCACCACCACCACCACCTCCACCACCTCCACCT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0035 a0001c0007t0001g0035	1	50	0.0200	48	c.299 others(65): Show c.2992+178_2992+179insACCTCCACCTCCACCACCACCACCACCA CCTCCACCACCTCCACCTCC	RTEL1	ENSG00000258366.12	transcript	ENST00000360203.11	protein_coding	30/34		INFO_REALIGN_3_PRIME	chr20	TogoVar
RTEL1_chr20_63653312_63701245	63693531	A A	ACCACCTC others(41): Show ACCACCTCCACCTCCACCTCCACCACCACCACCTCCACCACCACCACGT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0016	1	51	0.0196	48	c.299 others(65): Show c.2992+253_2992+254insTCCACCTCCACCTCCACCACCACCACCT CCACCACCACCACGTCCACC	RTEL1	ENSG00000258366.12	transcript	ENST00000360203.11	protein_coding	30/34		INFO_REALIGN_3_PRIME	chr20	TogoVar
RTL4_chrX_112078016_112462514	112236398	A A	AATATAGA others(41): Show AATATAGATATAGATCTATATCTATATATAGATATAGATCTATATCTAT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02717.hp1 HG03139.hp1 others(6): Show HG02132.hp1 HG02717.hp1 HG03139.hp1 HG03492.hp1 HG04115.hp1 HG04228.hp1 NA18747.hp1 NA18955.hp1 NA19009.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 a0001c0002 a0001c0003 a0002c0001	a0001c0002t0002 a0001c0002t0016 a0001c0003t0005 others(3): Show a0001c0002t0002 a0001c0002t0016 a0001c0003t0005 a0002c0001t0001 a0002c0001t0009 a0002c0001t0010	a0001c0002t0002g0059 a0001c0002t0016g0126 a0001c0003t0005g0016 others(6): Show a0001c0002t0002g0059 a0001c0002t0016g0126 a0001c0003t0005g0016 a0002c0001t0001g0003 a0002c0001t0001g0036 a0002c0001t0001g0046 a0002c0001t0001g0049 a0002c0001t0009g0038 a0002c0001t0010g0055	9	88	0.1023	48	c.-44 others(69): Show c.-444-69900_-444-69853dupCTATATCTATATATAGATATAGAT CTATATCTATATATAGATATAGAT	RTL4	ENSG00000187823.4	transcript	ENST00000695839.1	protein_coding	2/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
RTL5_chrX_72122110_72136915	72128397	C C	CAGTGTCC others(41): Show CAGTGTCCAGGGGCAGTTCAGGCCAGCAGTGGATTTGGCTGGCATTTTA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0022 a0002c0002t0022	a0002c0002t0022g0000 a0002c0002t0022g0000	1	306	0.0033	48	c.13 others(59): Show c.1386_*1433dupTAAAATGCCAGCCAAATCCACTGCTGGCCTGAAC TGCCCCTGGACACT	RTL5	ENSG00000242732.6	transcript	ENST00000609883.3	protein_coding	1/1	1433		chrX	TogoVar
RTN1_chr14_59590983_59875776	59606125	T T	TATATATA others(41): Show TATATATATATATATATATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03540.hp2 HG02723.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0001g0131 a0001c0001t0001g0135	2	138	0.0145	48	c.197 others(65): Show c.1974-620_1974-619insTTATATATATATATATATATATATATAT ATATATATATATATATATAT	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	4/8			chr14	TogoVar
RTN1_chr14_59590983_59875776	59750212	A A	ATATATAT others(41): Show ATATATATTATATCTATAATATATAATATATATTATATCTATAATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00639.hp2 others(19): Show HG00099.hp1 HG00323.hp1 HG00639.hp2 HG00741.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01516.hp2 HG01952.hp1 HG01993.hp2 HG02717.hp2 HG03195.hp1 HG06807.hp2 NA18747.hp2 NA18906.hp2 NA18965.hp1 NA18983.hp2 NA18984.hp2 NA19012.hp1 NA19068.hp2 NA19082.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0017 a0001c0001t0001g0029 others(19): Show a0001c0001t0001g0009 a0001c0001t0001g0017 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0073 a0001c0001t0001g0093 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0149 a0001c0001t0001g0154	22	145	0.1517	48	c.242 others(65): Show c.242-3732_242-3731insATATATTATAGATATAATATATATTATA TATTATAGATATAATATATA	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
RTN4IP1_chr6_106565771_106634498	106582587	T T	TATAAGTC others(41): Show TATAAGTCCATATAATCTCTCAATAACATAAAAAATATCAGCACCAGAA	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	394	0.0025	48	c.108 others(65): Show c.1083+693_1083+740dupTTCTGGTGCTGATATTTTTTATGTTATT GAGAGATTATATGGACTTAT	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	8/8			chr6	TogoVar
RTP3_chr3_46492976_46505950	46493833	G G	GCTCTCCC others(41): Show GCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	50	0.0200	48	c.-42 others(59): Show c.-4230_-4229insCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCC	RTP3	ENSG00000163825.5	transcript	ENST00000296142.4	protein_coding		4142		chr3	TogoVar
RTP3_chr3_46492976_46505950	46493833	G G	GCTCTCGC others(41): Show GCTCTCGCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	50	0.0200	48	c.-42 others(59): Show c.-4230_-4229insCTCTCGCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCC	RTP3	ENSG00000163825.5	transcript	ENST00000296142.4	protein_coding		4142		chr3	TogoVar
RTP5_chr2_241864729_241878823	241878107	G G	GCCCCCCC others(41): Show GCCCCCCCACCCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0014 a0002c0002t0014	a0002c0002t0014g0002 a0002c0002t0014g0002	1	274	0.0036	48	c.48 others(59): Show c.4833_*4834insCCCCCCCACCCCCATCCCTCTCCTCGCTCCCCTC CCTCTCCTGGCCGC	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		4285		chr2	TogoVar
RUNDC3B_chr7_87623398_87837296	87626091	T T	TATATATA others(41): Show TATATATAGTCATATATATGTGTCATATATATTGTCATATATATGTGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0075 a0001c0001t0003g0075	1	143	0.0070	48	c.-27 others(59): Show c.-2733_-2732insATATATAGTCATATATATGTGTCATATATATTGT CATATATATGTGTC	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		2306		chr7	TogoVar
RUNDC3B_chr7_87623398_87837296	87626348	T T	TATATATG others(41): Show TATATATGTGTCATATATATGTGTCATATATGTGTCATATATATGTGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0043 a0001c0001t0019g0043	1	168	0.0060	48	c.-24 others(59): Show c.-2476_-2475insATATATGTGTCATATATATGTGTCATATATGTGT CATATATATGTGTC	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		2049		chr7	TogoVar
RUNDC3B_chr7_87623398_87837296	87715251	T T	TATTATAT others(41): Show TATTATATATAATTAATTTATAATAATTATATATAATTAATTTATAATA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03139.hp1 HG03471.hp2 HG02976.hp2 HG03139.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0025 a0001c0001t0072 a0001c0001t0024 a0001c0001t0025 a0001c0001t0072	a0001c0001t0024g0004 a0001c0001t0025g0005 a0001c0001t0072g0009 a0001c0001t0024g0004 a0001c0001t0025g0005 a0001c0001t0072g0009	3	172	0.0174	48	c.458 others(65): Show c.458+4677_458+4724dupTAATTAATTTATAATAATTATATATAAT TAATTTATAATAATTATATA	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
RYR1_chr19_38428691_38592564	38502786	C C	CAGGGGGA others(41): Show CAGGGGGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGG	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0001 a0001c0035t0001	a0001c0035t0001g0063 a0001c0035t0001g0063	1	214	0.0047	48	c.783 others(63): Show c.7835+64_7835+65insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGGGGAGGGG	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	48/105		INFO_REALIGN_3_PRIME	chr19	TogoVar
RYR1_chr19_38428691_38592564	38502792	C C	CAGGGGCA others(41): Show CAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGG	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18970.hp2 NA18955.hp1 NA18970.hp2	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0001 a0001c0029t0001	a0001c0029t0001g0114 a0001c0029t0001g0129 a0001c0029t0001g0114 a0001c0029t0001g0129	2	208	0.0096	48	c.783 others(63): Show c.7835+76_7836-76insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGGGCAGGGG	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	48/105		INFO_REALIGN_3_PRIME	chr19	TogoVar
RYR1_chr19_38428691_38592564	38502798	C C	CAGGGGCA others(41): Show CAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGG	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0116 a0001c0116	a0001c0116t0001 a0001c0116t0001	a0001c0116t0001g0080 a0001c0116t0001g0080	1	193	0.0052	48	c.783 others(63): Show c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG GAGGGGGAGGGGCAGGGG	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	48/105		INFO_REALIGN_3_PRIME	chr19	TogoVar
RYR2_chr1_237037184_237838988	237307920	T T	TTTGAGTG others(41): Show TTTGAGTGAGGGCTAGGAAAATGAGGCCGGGACTTGCTGAAACTCCATC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00738.hp2 HG01074.hp1 others(22): Show HG00408.hp1 HG00738.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01175.hp1 HG01496.hp2 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG03017.hp1 HG03098.hp2 HG03195.hp2 HG03579.hp1 HG03669.hp1 HG03704.hp1 HG04228.hp2 NA18522.hp2 NA18747.hp1 NA19066.hp1 NA19066.hp2 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(16): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0018 a0001c0028 a0001c0036 a0001c0037 a0001c0042 a0001c0045 a0001c0049 a0002c0009 a0002c0031 a0002c0038 a0003c0006 a0003c0021 a0004c0034	a0001c0001t0003 a0001c0001t0038 a0001c0002t0009 others(20): Show a0001c0001t0003 a0001c0001t0038 a0001c0002t0009 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0004t0027 a0001c0005t0014 a0001c0007t0001 a0001c0007t0021 a0001c0018t0029 a0001c0028t0007 a0001c0036t0003 a0001c0037t0012 a0001c0042t0017 a0001c0045t0001 a0001c0049t0010 a0002c0009t0004 a0002c0031t0022 a0002c0038t0040 a0003c0006t0004 a0003c0021t0001 a0004c0034t0013	a0001c0001t0003g0023 a0001c0001t0003g0088 a0001c0001t0038g0001 others(22): Show a0001c0001t0003g0023 a0001c0001t0003g0088 a0001c0001t0038g0001 a0001c0002t0009g0017 a0001c0003t0001g0078 a0001c0003t0002g0065 a0001c0003t0003g0046 a0001c0003t0003g0084 a0001c0004t0027g0005 a0001c0005t0014g0004 a0001c0007t0001g0020 a0001c0007t0021g0048 a0001c0018t0029g0041 a0001c0028t0007g0062 a0001c0036t0003g0038 a0001c0037t0012g0037 a0001c0042t0017g0050 a0001c0045t0001g0073 a0001c0049t0010g0044 a0002c0009t0004g0067 a0002c0031t0022g0056 a0002c0038t0040g0096 a0003c0006t0004g0087 a0003c0021t0001g0019 a0004c0034t0013g0043	25	98	0.2551	48	c.169 others(67): Show c.169-22950_169-22949insGGGCTAGGAAAATGAGGCCGGGACTT GCTGAAACTCCATCTTGAGTGA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	2/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237307920	T T	TTTGAGTG others(41): Show TTTGAGTGAGGGCTAGGAAAATGAGGCCGGGACTTGCTGAGACTCCATC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0005 a0005	a0005c0046 a0005c0046	a0005c0046t0012 a0005c0046t0012	a0005c0046t0012g0080 a0005c0046t0012g0080	1	74	0.0135	48	c.169 others(67): Show c.169-22950_169-22949insGGGCTAGGAAAATGAGGCCGGGACTT GCTGAGACTCCATCTTGAGTGA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	2/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237307920	T T	TTTGAGTG others(41): Show TTTGAGTGAGGGCTAGGAAAATGAGGCCGGGACTTGTTGAAACTCCATC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0006 a0001c0015t0006	a0001c0015t0006g0034 a0001c0015t0006g0034	1	74	0.0135	48	c.169 others(67): Show c.169-22950_169-22949insGGGCTAGGAAAATGAGGCCGGGACTT GTTGAAACTCCATCTTGAGTGA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	2/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237308043	C C	CGGGACTT others(41): Show CGGGACTTGCTGAGACTCCATCTTGAGTGAGGGCTAGGAAAATGAGGCT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00741.hp2 HG00738.hp1 HG00741.hp2	a0001 a0002 a0001 a0002	a0001c0041 a0002c0039 a0001c0041 a0002c0039	a0001c0041t0006 a0002c0039t0033 a0001c0041t0006 a0002c0039t0033	a0001c0041t0006g0027 a0002c0039t0033g0030 a0001c0041t0006g0027 a0002c0039t0033g0030	2	74	0.0270	48	c.169 others(67): Show c.169-22833_169-22832insGACTTGCTGAGACTCCATCTTGAGTG AGGGCTAGGAAAATGAGGCTGG	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	2/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237481110	A A	ATGTATAT others(41): Show ATGTATATATATATATATATGTATATACATATATGTATATATATATATG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0029 a0001c0005t0006g0029	1	96	0.0104	48	c.170 others(69): Show c.1709-10695_1709-10694insGTATATATATATATATATGTATAT ACATATATGTATATATATATATGT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	17/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	939398	G G	GCCTCCCC others(41): Show GCCTCCCCAGCCACGGTGAGGACCCACCCTGGCATGATCCCCCTCATCA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01891.hp1 HG02647.hp2 others(6): Show HG01192.hp1 HG01891.hp1 HG02647.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG03486.hp1 HG03486.hp2 NA19240.hp1	a0005 a0020 a0005 a0020	a0005c0012 a0005c0034 a0005c0043 others(2): Show a0005c0012 a0005c0034 a0005c0043 a0005c0044 a0020c0028	a0005c0012t0001 a0005c0034t0021 a0005c0043t0001 others(2): Show a0005c0012t0001 a0005c0034t0021 a0005c0043t0001 a0005c0044t0030 a0020c0028t0008	a0005c0012t0001g0009 a0005c0012t0001g0114 a0005c0012t0001g0127 others(4): Show a0005c0012t0001g0009 a0005c0012t0001g0114 a0005c0012t0001g0127 a0005c0034t0021g0263 a0005c0043t0001g0126 a0005c0044t0030g0152 a0020c0028t0008g0264	9	396	0.0227	48	c.119 others(63): Show c.1195+25_1195+72dupCCCCTCATCACCTCCCCAGCCACGGTGAGG ACCCACCCTGGCATGATC	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMHD1_chr20_36885229_36956708	36890396	C C	CCCTTTCT others(41): Show CCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01934.hp1 HG02300.hp2 NA19055.hp1 HG01934.hp1 HG02300.hp2 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0299 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0299	3	22	0.1364	48	c.25 others(59): Show c.2535_*2536insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGG	SAMHD1	ENSG00000101347.11	transcript	ENST00000646673.2	protein_coding	16/16	2535		chr20	TogoVar
SAR1B_chr5_134596149_134637828	134613429	A A	ACTTTTAT others(41): Show ACTTTTATTGCAAATAAGGTCAAATCAAACATTTACAAACTGGTACAAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0125 a0001c0001t0007g0125	1	320	0.0031	48	c.179 others(63): Show c.179-721_179-674dupATTGTACCAGTTTGTAAATGTTTGATTTGA CCTTATTTGCAATAAAAG	SAR1B	ENSG00000152700.14	transcript	ENST00000402673.7	protein_coding	3/6			chr5	TogoVar
SARDH_chr9_133658560_133743352	133668559	C C	CCCCTCAT others(41): Show CCCCTCATCCTCCTCTCCCTCACCCTCCCTCTCCCCTTACCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0002 a0003c0013t0002	a0003c0013t0002g0052 a0003c0013t0002g0052	1	236	0.0042	48	c.249 others(67): Show c.2496-1690_2496-1689insAGGGGGAGGGTAAGGGGAGAGGGAGG GTGAGGGAGAGGAGGATGAGGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133669051	C C	CTCCCTCT others(41): Show CTCCCTCTCTCTCTCCTTCCCTCTCCCTTACCCTCCCTCTCCCTCACCT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0049	1	253	0.0040	48	c.249 others(67): Show c.2495+1532_2495+1533insAGGTGAGGGAGAGGGAGGGTAAGGGA GAGGGAAGGAGAGAGAGAGGGA	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133669114	C C	CCCTCCAT others(41): Show CCCTCCATCTCCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCTCA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	258	0.0039	48	c.249 others(67): Show c.2495+1469_2495+1470insTGAGGGAGAGGGAGGGTGAGGGAGAG GGAGGGTGAGGGGAGATGGAGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SASH1_chr6_148337838_148557044	148449078	C C	CTTTTTTT others(41): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0011 a0001c0001t0009g0011	1	118	0.0085	48	c.386 others(65): Show c.386+8686_386+8687insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH3_chrX_129774949_129800201	129789105	A A	AAAAGAAA others(41): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	209	0.0048	48	c.300 others(63): Show c.300+531_300+532insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAA	SASH3	ENSG00000122122.10	transcript	ENST00000356892.4	protein_coding	3/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
SBF2_chr11_9773668_10299219	9989055	T T	TATATATA others(41): Show TATATATATATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0161 a0001c0003t0001g0161	1	208	0.0048	48	c.139 others(65): Show c.1395+441_1395+442insGTATATATATATATATATATATATATAT ATATATATATATATATATAT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	13/39			chr11	TogoVar
SBSN_chr19_35518367_35533311	35520356	C C	CTATATAT others(41): Show CTATATATATATATATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 NA18994.hp2 HG02040.hp2 NA18994.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0006 a0001c0003t0001g0080 a0001c0003t0001g0006 a0001c0003t0001g0080	2	368	0.0054	48	c.31 others(59): Show c.3153_*3154insTATATATATATATATATATATATATATATATATA TATATATATATATA	SBSN	ENSG00000189001.11	transcript	ENST00000452271.7	protein_coding		3010		chr19	TogoVar
SBSPON_chr8_73059543_73098172	73067589	C C	CTATATAT others(41): Show CTATATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03540.hp2 HG02109.hp1 HG03540.hp2	a0004 a0004	a0004c0004 a0004c0006 a0004c0004 a0004c0006	a0004c0004t0008 a0004c0006t0012 a0004c0004t0008 a0004c0006t0012	a0004c0004t0008g0326 a0004c0006t0012g0087 a0004c0004t0008g0326 a0004c0006t0012g0087	2	360	0.0056	48	c.678 others(63): Show c.678-132_678-131insTATATATATATATATATATATATATATATA TATATATATATATATATA	SBSPON	ENSG00000164764.11	transcript	ENST00000297354.7	protein_coding	4/4			chr8	TogoVar
SCAF11_chr12_45914131_45995574	45972897	T T	TATATATA others(41): Show TATATATAGATATATAGATATATATATAGATATATATATAGATATATAG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01884.hp2 HG02109.hp2 others(18): Show HG01175.hp2 HG01884.hp2 HG02109.hp2 HG02257.hp1 HG02451.hp1 HG02486.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp2 HG02886.hp1 HG02895.hp1 HG02922.hp2 HG02976.hp2 HG03195.hp1 HG03209.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03579.hp1 HG03579.hp2 HG06807.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0008 a0001c0004t0001 a0001c0004t0008	a0001c0004t0001g0001 a0001c0004t0001g0022 a0001c0004t0001g0023 others(12): Show a0001c0004t0001g0001 a0001c0004t0001g0022 a0001c0004t0001g0023 a0001c0004t0001g0132 a0001c0004t0001g0274 a0001c0004t0001g0275 a0001c0004t0001g0276 a0001c0004t0001g0277 a0001c0004t0001g0282 a0001c0004t0001g0283 a0001c0004t0001g0284 a0001c0004t0001g0285 a0001c0004t0001g0291 a0001c0004t0008g0279 a0001c0004t0008g0280	21	325	0.0646	48	c.-21 others(65): Show c.-21-8710_-21-8709insCTATATATCTATATATATATCTATATAT ATATCTATATATCTATATAT	SCAF11	ENSG00000139218.18	transcript	ENST00000369367.8	protein_coding	1/14			chr12	TogoVar
SCAF1_chr19_49637209_49663642	49659984	T T	TACACACA others(41): Show TACACACACACACATATACACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0076 a0001c0002t0002g0076	1	150	0.0067	48	c.15 others(59): Show c.1585_*1586insACACACACACACATATACACACACACACACACAC ACACACACACACAC	SCAF1	ENSG00000126461.15	transcript	ENST00000360565.8	protein_coding		1343		chr19	TogoVar
SCAF1_chr19_49637209_49663642	49659984	T T	TACACACA others(41): Show TACACACACACACATATATACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0011 a0001c0004t0002g0011	1	150	0.0067	48	c.15 others(59): Show c.1585_*1586insACACACACACACATATATACACACACACACACAC ACACACACACACAC	SCAF1	ENSG00000126461.15	transcript	ENST00000360565.8	protein_coding		1343		chr19	TogoVar
SCAMP1_chr5_78355617_78485739	78460770	T T	TTCCCTCC others(41): Show TTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02622.hp2 HG03209.hp1 others(3): Show HG00741.hp2 HG02622.hp2 HG03209.hp1 NA18522.hp1 NA19030.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0006 a0001c0001t0006g0133 a0001c0001t0006g0134 others(3): Show a0001c0001t0006g0006 a0001c0001t0006g0133 a0001c0001t0006g0134 a0001c0001t0006g0135 a0001c0001t0006g0138 a0001c0001t0006g0139	6	323	0.0186	48	c.852 others(65): Show c.852+1411_852+1412insCTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCTCCCTCC	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78460816	C C	CTTTCTTT others(41): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02080.hp2 NA18612.hp2 HG02080.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0253 a0001c0001t0001g0245 a0001c0001t0001g0253	2	221	0.0090	48	c.852 others(65): Show c.852+1454_852+1455insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTTCTTTCTTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8			chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78460820	C C	CCTTCTTT others(41): Show CCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	165	0.0061	48	c.852 others(65): Show c.852+1461_852+1462insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTTCTTTCTTTCTTTCTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP5_chr15_74990563_75026495	74990994	C C	CTCTTTCT others(41): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	194	0.0052	48	c.-47 others(59): Show c.-4728_-4727insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTT	SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding		4568		chr15	TogoVar

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