Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RPRD1A_chr18_35984824_36072559	36008577	G G	GTGTGTGT others(43): Show GTGTGTGTATATATATATATATATATATATATATATATATATATATATAT A	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG04204.hp1 NA18946.hp2 HG03831.hp2 HG04204.hp1 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 a0001c0001t0001 a0001c0001t0004 a0001c0001t0012	a0001c0001t0001g0200 a0001c0001t0004g0151 a0001c0001t0012g0082 a0001c0001t0001g0200 a0001c0001t0004g0151 a0001c0001t0012g0082	3	318	0.0094	50	c.790 others(69): Show c.790-15278_790-15277insTATATATATATATATATATATATATA TATATATATATATATATACACACA	RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6			chr18	TogoVar
RPRD1A_chr18_35984824_36072559	36008577	G G	GTGTGTGT others(43): Show GTGTGTGTGTATATATATATATATATATATATATATATATATATATATAT A	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	318	0.0031	50	c.790 others(69): Show c.790-15278_790-15277insTATATATATATATATATATATATATA TATATATATATATATACACACACA	RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6			chr18	TogoVar
RPRD1A_chr18_35984824_36072559	36008577	G G	GTGTGTGT others(43): Show GTGTGTGTGTGTGTGTATATATATATATATATATATATATATATATATAT A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	318	0.0031	50	c.790 others(69): Show c.790-15278_790-15277insTATATATATATATATATATATATATA TATATATATACACACACACACACA	RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6			chr18	TogoVar
RPTOR_chr17_80539838_80971368	80864276	C C	CGGCAGGT others(43): Show CGGCAGGTTTCTTCTTACAGATTTCCTACAGATGGAAAAGGTGAGAGTGA T	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02717.hp2 NA18944.hp2 HG02683.hp1 HG02717.hp2 NA18944.hp2	a0001 a0001	a0001c0033 a0001c0035 a0001c0087 a0001c0033 a0001c0035 a0001c0087	a0001c0033t0023 a0001c0035t0010 a0001c0087t0002 a0001c0033t0023 a0001c0035t0010 a0001c0087t0002	a0001c0033t0023g0075 a0001c0035t0010g0063 a0001c0087t0002g0051 a0001c0033t0023g0075 a0001c0035t0010g0063 a0001c0087t0002g0051	3	196	0.0153	50	c.150 others(69): Show c.1509+6425_1509+6426insTGGCAGGTTTCTTCTTACAGATTTCC TACAGATGGAAAAGGTGAGAGTGA	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	13/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80864281	G G	GGTTTCTT others(43): Show GGTTTCTTCTTACAGATTTCCTACAGATGGAAAAGGTGAGAGTGATGGCA A	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0051 a0001c0051	a0001c0051t0060 a0001c0051t0060	a0001c0051t0060g0116 a0001c0051t0060g0116	1	196	0.0051	50	c.150 others(69): Show c.1509+6425_1509+6426insTGGCAAGTTTCTTCTTACAGATTTCC TACAGATGGAAAAGGTGAGAGTGA	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	13/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80864321	A A	AGTGATGG others(43): Show AGTGATGGCAAGTTTCTTCTCACAGATTTCCTACAGATGGAAAAGGTGAG C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02723.hp1 HG03130.hp1 others(1): Show HG02630.hp1 HG02723.hp1 HG03130.hp1 HG06807.hp2	a0001 a0001	a0001c0011 a0001c0020 a0001c0064 a0001c0011 a0001c0020 a0001c0064	a0001c0011t0024 a0001c0011t0062 a0001c0020t0064 others(1): Show a0001c0011t0024 a0001c0011t0062 a0001c0020t0064 a0001c0064t0006	a0001c0011t0024g0147 a0001c0011t0062g0114 a0001c0020t0064g0190 others(1): Show a0001c0011t0024g0147 a0001c0011t0062g0114 a0001c0020t0064g0190 a0001c0064t0006g0106	4	196	0.0204	50	c.150 others(69): Show c.1509+6425_1509+6426insTGGCAAGTTTCTTCTCACAGATTTCC TACAGATGGAAAAGGTGAGCGTGA	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	13/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80864321	A A	AGTGATGG others(43): Show AGTGATGGCAGGTTTCTTCTCACAGATTTCCTACAGATGGAAAAGGTGAG C	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02976.hp2 HG02717.hp1 HG02976.hp2	a0001 a0001	a0001c0044 a0001c0065 a0001c0044 a0001c0065	a0001c0044t0045 a0001c0065t0007 a0001c0044t0045 a0001c0065t0007	a0001c0044t0045g0080 a0001c0065t0007g0101 a0001c0044t0045g0080 a0001c0065t0007g0101	2	196	0.0102	50	c.150 others(69): Show c.1509+6425_1509+6426insTGGCAGGTTTCTTCTCACAGATTTCC TACAGATGGAAAAGGTGAGCGTGA	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	13/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80864326	C C	CGGCAGGT others(43): Show CGGCAGGTTTCTTCTTACAGATTTCCTACAGATGGAAAAGGTGAGAGTGA T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0072 a0001c0072	a0001c0072t0006 a0001c0072t0006	a0001c0072t0006g0108 a0001c0072t0006g0108	1	196	0.0051	50	c.150 others(69): Show c.1509+6471_1509+6472insGTGATGGCAGGTTTCTTCTTACAGAT TTCCTACAGATGGAAAAGGTGAGA	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	13/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80864341	T T	TACAGATT others(43): Show TACAGATTTCCTACAGATGGAAAAGGTGAGAGTGATGGCAGGTTTCTTCT C	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0074 a0001c0074	a0001c0074t0032 a0001c0074t0032	a0001c0074t0032g0061 a0001c0074t0032g0061	1	196	0.0051	50	c.150 others(69): Show c.1509+6471_1509+6472insGTGATGGCAGGTTTCTTCTCACAGAT TTCCTACAGATGGAAAAGGTGAGA	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	13/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RRAS2_chr11_14272922_14364183	14293124	A A	AATATATA others(43): Show AATATATATATATATATATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0079 a0001c0001t0005g0079	1	279	0.0036	50	c.408 others(67): Show c.408+1346_408+1347insATATATATATATATATATATATATATAT ATATATATATATATATATATAT	RRAS2	ENSG00000133818.14	transcript	ENST00000256196.9	protein_coding	4/5			chr11	TogoVar
RRM1_chr11_4089799_4143932	4138067	C C	CGGGGGGC others(43): Show CGGGGGGCTGACCCCCCCACCACCCTCCCGGACGGGGCGGCTGGCCGGGC A	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02738.hp2 NA20905.hp1 HG02602.hp2 HG02738.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0277 a0001c0001t0001g0283 a0001c0001t0001g0269 a0001c0001t0001g0277 a0001c0001t0001g0283	3	368	0.0082	50	c.219 others(67): Show c.2191-123_2191-122insGCTGACCCCCCCACCACCCTCCCGGACG GGGCGGCTGGCCGGGCAGGGGG	RRM1	ENSG00000167325.15	transcript	ENST00000300738.10	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr11	TogoVar
RRM1_chr11_4089799_4143932	4138067	C C	CGGGGGGC others(43): Show CGGGGGGCTGACCCCCCCACCACCCTCCCGGACGGGGCGGCTGGCCGGGC G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00408.hp1 others(242): Show HG00099.hp1 HG00099.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18992.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19077.hp1 NA19077.hp2 NA19078.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0009 a0003c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0004t0001 a0001c0009t0001 a0003c0010t0001	a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0012 others(221): Show a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0338 a0001c0001t0001g0340 a0001c0001t0003g0016 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0090 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0318 a0001c0001t0003g0319 a0001c0001t0003g0320 a0001c0001t0003g0330 a0001c0001t0003g0331 a0001c0001t0003g0339 a0001c0001t0005g0267 a0001c0001t0006g0287 a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0097 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0232 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0004t0001g0023 a0001c0004t0001g0031 a0001c0004t0001g0096 a0001c0004t0001g0106 a0001c0009t0001g0266 a0003c0010t0001g0275	245	368	0.6658	50	c.219 others(67): Show c.2191-123_2191-122insGCTGACCCCCCCACCACCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGG	RRM1	ENSG00000167325.15	transcript	ENST00000300738.10	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr11	TogoVar
RRM1_chr11_4089799_4143932	4138067	C C	CGGGGGGC others(43): Show CGGGGGGCTGACCCCCCCCCCACCCTCCCGGACGGGGCGGCTGGCCGGGC G	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0024 a0001c0004t0001g0024	1	368	0.0027	50	c.219 others(67): Show c.2191-123_2191-122insGCTGACCCCCCCCCCACCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGG	RRM1	ENSG00000167325.15	transcript	ENST00000300738.10	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr11	TogoVar
RSBN1_chr1_113756832_113817476	113763871	A A	ATGACAGA others(43): Show ATGACAGATGGCATCTGCTGGATGGCAAGTGGGAGATGGGGAAATCGGAT C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0133 a0001c0001t0023g0133	1	340	0.0029	50	c.20 others(61): Show c.2059_*2108dupGATCCGATTTCCCCATCTCCCACTTGCCATCCAG CAGATGCCATCTGTCA	RSBN1	ENSG00000081019.14	transcript	ENST00000261441.9	protein_coding	7/7	2108		chr1	TogoVar
RSPH14_chr22_23054415_23146990	23130496	A A	AAGAAAGA others(43): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA G	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG06807.hp2 HG02129.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0272 a0001c0002t0001g0083 a0001c0001t0001g0272 a0001c0002t0001g0083	2	314	0.0064	50	c.421 others(67): Show c.421+3529_421+3530insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCT	RSPH14	ENSG00000100218.12	transcript	ENST00000216036.9	protein_coding	4/6			chr22	TogoVar
RSPH1_chr21_42467486_42501224	42477027	G G	GCCCCCTC others(43): Show GCCCCCTCCACCCCACAGCCCGGGGGTGCCCTACACCCTCTGCCCCCTCC A	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0034 a0001c0001t0011g0034	1	408	0.0025	50	c.727 others(65): Show c.727+263_727+264insTGGAGGGGGCAGAGGGTGTAGGGCACCCCC GGGCTGTGGGGTGGAGGGGG	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RSPH1_chr21_42467486_42501224	42477029	C C	CCCCTCCA others(43): Show CCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCAC T	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01257.hp2 HG01516.hp1 others(9): Show HG01123.hp2 HG01257.hp2 HG01516.hp1 HG01928.hp1 HG02080.hp1 HG03098.hp2 HG03579.hp2 NA18968.hp2 NA18981.hp1 NA19059.hp1 NA19062.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003	a0001c0001t0001g0257 a0001c0002t0001g0114 a0001c0002t0001g0135 others(8): Show a0001c0001t0001g0257 a0001c0002t0001g0114 a0001c0002t0001g0135 a0001c0002t0002g0011 a0001c0002t0002g0038 a0001c0002t0002g0070 a0001c0002t0002g0091 a0001c0002t0002g0094 a0001c0002t0002g0102 a0001c0002t0002g0112 a0001c0002t0003g0218	12	408	0.0294	50	c.727 others(65): Show c.727+261_727+262insAGTGGAGGGGTCAGAGGGTGTGGGGCATCC CCGGGCTGTGGGGTGGAGGG	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RSPH1_chr21_42467486_42501224	42477029	C C	CCCCTCCA others(43): Show CCCCTCCACCCCACAGCCCGGGGGTGCCCTACACCCTCTGCCCCCTCCAC T	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	408	0.0025	50	c.727 others(65): Show c.727+261_727+262insAGTGGAGGGGGCAGAGGGTGTAGGGCACCC CCGGGCTGTGGGGTGGAGGG	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RSPH1_chr21_42467486_42501224	42477223	G G	GACCCCTC others(43): Show GACCCCTCCACTCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTCC A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0158 a0001c0001t0004g0158	1	408	0.0025	50	c.727 others(63): Show c.727+67_727+68insTGGAGGGGTCAGAGGGTGTGGGGCACCCCCGG GCTGTGGAGTGGAGGGGT	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RSPH1_chr21_42467486_42501224	42477223	G G	GCCCCCTC others(43): Show GCCCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCC A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0006 a0006	a0006c0018 a0006c0018	a0006c0018t0001 a0006c0018t0001	a0006c0018t0001g0369 a0006c0018t0001g0369	1	408	0.0025	50	c.727 others(63): Show c.727+67_727+68insTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGG GCTGTGGGGTGGAGGGGG	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RSPH1_chr21_42467486_42501224	42477225	C C	CCCCTCCA others(43): Show CCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCAC T	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0279	1	408	0.0025	50	c.727 others(63): Show c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCC GGGCTGTGGGGTGGAGGG	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RSPH1_chr21_42467486_42501224	42477225	C C	CCCCTCCA others(43): Show CCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTCCAC T	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG02886.hp2 HG03239.hp1 others(2): Show HG01258.hp1 HG02886.hp2 HG03239.hp1 HG03654.hp2 NA19067.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0002c0003t0001 a0003c0005t0002	a0001c0001t0001g0367 a0001c0001t0002g0292 a0001c0002t0002g0117 others(2): Show a0001c0001t0001g0367 a0001c0001t0002g0292 a0001c0002t0002g0117 a0002c0003t0001g0043 a0003c0005t0002g0085	5	408	0.0123	50	c.727 others(63): Show c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCC GGGCTGTGGGGTGGAGGG	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RSPH1_chr21_42467486_42501224	42477225	C C	CCCCTCCA others(43): Show CCCCTCCACCCCACAGCCCGGGGGTGCCCTACACCCTCTGACCCCTCCAC T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01123.hp1 HG01106.hp1 HG01123.hp1	a0003 a0003	a0003c0005 a0003c0013 a0003c0005 a0003c0013	a0003c0005t0002 a0003c0013t0002 a0003c0005t0002 a0003c0013t0002	a0003c0005t0002g0129 a0003c0013t0002g0191 a0003c0005t0002g0129 a0003c0013t0002g0191	2	408	0.0049	50	c.727 others(63): Show c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTAGGGCACCCCC GGGCTGTGGGGTGGAGGG	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RSPH1_chr21_42467486_42501224	42477225	C C	CCCCTCCA others(43): Show CCCCTCCACCCCTCAGCCCGGGGGTGCCCCACACCCTCTGACCCCTCCAC T	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0297 a0001c0001t0002g0297	1	408	0.0025	50	c.727 others(63): Show c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCC GGGCTGAGGGGTGGAGGG	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RSPH1_chr21_42467486_42501224	42477225	C C	CCCCTCCA others(43): Show CCCCTCCACTCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTCCAC T	intron_variant intron_variant	MODIFIER	HG01952.hp1 NA18952.hp2 HG01952.hp1 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0206 a0001c0002t0001g0120 a0001c0001t0001g0206 a0001c0002t0001g0120	2	408	0.0049	50	c.727 others(63): Show c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCC GGGCTGTGGAGTGGAGGG	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RSRC1_chr3_158105089_158550730	158477798	T T	TTTTATAT others(43): Show TTTTATATATATATATATATATATATATATATATATATATATATATATAT A	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0105 a0001c0001t0002g0105	1	276	0.0036	50	c.652 others(69): Show c.652+16796_652+16797insTTATATATATATATATATATATATAT ATATATATATATATATATATATAT	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(43): Show TATACATATATGTATATATACACACATATACATATATGTATATATACACA C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(63): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00408.hp2 HG00544.hp1 HG00639.hp1 HG00642.hp2 HG00741.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01175.hp1 HG01192.hp1 HG01257.hp1 HG01258.hp2 HG01358.hp1 HG01884.hp1 HG01891.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02155.hp1 HG02257.hp2 HG02280.hp2 HG02451.hp2 HG02523.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp2 HG02886.hp2 HG02970.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03942.hp1 HG06807.hp1 HG06807.hp2 NA18954.hp1 NA18960.hp1 NA18962.hp2 NA18974.hp1 NA18998.hp2 NA19005.hp1 NA19010.hp1 NA19043.hp1 NA19060.hp1 NA19066.hp1 NA19066.hp2 NA19088.hp2 NA19240.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(33): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0023 a0001c0001t0025 a0001c0001t0031 a0001c0001t0044 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0008 a0001c0002t0011 a0001c0002t0014 a0001c0002t0015 a0001c0002t0016 a0001c0002t0019 a0001c0002t0020 a0001c0002t0022 a0001c0002t0025 a0001c0002t0026 a0001c0002t0035 a0001c0002t0040 a0001c0002t0045 a0001c0002t0058 a0001c0003t0001 a0002c0004t0003 a0002c0004t0062	a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0002g0033 others(63): Show a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0002g0033 a0001c0001t0002g0056 a0001c0001t0002g0065 a0001c0001t0003g0172 a0001c0001t0003g0183 a0001c0001t0004g0051 a0001c0001t0007g0148 a0001c0001t0009g0024 a0001c0001t0009g0044 a0001c0001t0011g0030 a0001c0001t0011g0032 a0001c0001t0012g0068 a0001c0001t0013g0045 a0001c0001t0023g0118 a0001c0001t0025g0099 a0001c0001t0031g0003 a0001c0001t0044g0077 a0001c0002t0001g0084 a0001c0002t0001g0096 a0001c0002t0001g0108 a0001c0002t0001g0126 a0001c0002t0001g0128 a0001c0002t0001g0141 a0001c0002t0001g0147 a0001c0002t0001g0154 a0001c0002t0002g0053 a0001c0002t0002g0064 a0001c0002t0002g0066 a0001c0002t0002g0072 a0001c0002t0003g0169 a0001c0002t0003g0174 a0001c0002t0003g0176 a0001c0002t0003g0177 a0001c0002t0003g0180 a0001c0002t0003g0184 a0001c0002t0005g0089 a0001c0002t0005g0093 a0001c0002t0005g0103 a0001c0002t0006g0130 a0001c0002t0006g0132 a0001c0002t0007g0109 a0001c0002t0007g0140 a0001c0002t0008g0142 a0001c0002t0011g0071 a0001c0002t0014g0090 a0001c0002t0014g0100 a0001c0002t0014g0107 a0001c0002t0015g0168 a0001c0002t0015g0185 a0001c0002t0016g0012 a0001c0002t0019g0004 a0001c0002t0019g0005 a0001c0002t0020g0073 a0001c0002t0022g0037 a0001c0002t0025g0106 a0001c0002t0026g0178 a0001c0002t0035g0017 a0001c0002t0040g0063 a0001c0002t0045g0023 a0001c0002t0058g0144 a0001c0003t0001g0080 a0001c0003t0001g0134 a0002c0004t0003g0189 a0002c0004t0062g0190	66	190	0.3474	50	c.599 others(69): Show c.599-27701_599-27700insGTGTGTATATATACATATATGTATAT GTGTGTATATATACATATATGTAT	RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	7/8			chr10	TogoVar
RTN1_chr14_59590983_59875776	59606103	G G	GATATATA others(43): Show GATATATATATATATATATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0029 a0002c0002t0004g0029	1	172	0.0058	50	c.197 others(67): Show c.1974-598_1974-597insATATATATATATATATATATATATATAT ATATATATATATATATATATAT	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	4/8			chr14	TogoVar
RTN1_chr14_59590983_59875776	59606125	T T	TATATATA others(43): Show TATATATATATATATATATATATATATATATATATATATATATATATATA A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	172	0.0058	50	c.197 others(67): Show c.1974-620_1974-619insTTATATATATATATATATATATATATAT ATATATATATATATATATATAT	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	4/8			chr14	TogoVar
RTN1_chr14_59590983_59875776	59749270	A A	ATATATAT others(43): Show ATATATATCTATATATATCTATATATATCTATATATATCTATATATATAT C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	172	0.0058	50	c.242 others(67): Show c.242-2839_242-2790dupGATATATATATAGATATATATAGATATA TATAGATATATATAGATATATA	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
RTN1_chr14_59590983_59875776	59750212	A A	ATATATAT others(43): Show ATATATATTATATCTATAATATATAATATATATATTATATCTATAATATA T	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02280.hp1 HG02622.hp2 others(12): Show HG01433.hp1 HG02280.hp1 HG02622.hp2 HG02630.hp2 HG02723.hp1 HG02809.hp2 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03209.hp1 HG03516.hp2 HG03579.hp2 HG06807.hp1 NA18522.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 others(12): Show a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0069 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0100 a0001c0001t0001g0133 a0001c0001t0001g0169 a0001c0003t0001g0072 a0001c0003t0001g0101	15	172	0.0872	50	c.242 others(67): Show c.242-3732_242-3731insATATATTATAGATATAATATATATATTA TATATTATAGATATAATATATA	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
RTP5_chr2_241864729_241878823	241878014	G G	GCCGCCCC others(43): Show GCCGCCCCCCCAACCCCATCCCTCTCCTCGCTCCCCCTCCCTCTCCCCGG C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0006 a0001c0001t0020g0006	1	365	0.0027	50	c.47 others(61): Show c.4740_*4741insCCGCCCCCCCAACCCCATCCCTCTCCTCGCTCCC CCTCCCTCTCCCCGGC	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		4192		chr2	TogoVar
RTP5_chr2_241864729_241878823	241878107	G G	GCCCCCCC others(43): Show GCCCCCCCACCCCCATCCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCGC C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	365	0.0027	50	c.48 others(61): Show c.4833_*4834insCCCCCCCACCCCCATCCCCTCTCCTCGCTCCCCT CCCTCTCCTGGCCGCC	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		4285		chr2	TogoVar
RTP5_chr2_241864729_241878823	241878107	G G	GCCCCCCC others(43): Show GCCCCCCCACCCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCGCC C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	365	0.0027	50	c.48 others(61): Show c.4833_*4834insCCCCCCCACCCCCATCCCTCTCCTCGCTCCCCTC CCTCTCCTGGCCGCCC	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		4285		chr2	TogoVar
RTP5_chr2_241864729_241878823	241878107	G G	GCCCCCCC others(43): Show GCCCCCCCCACCCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCGC C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp1 NA18998.hp2 HG02080.hp1 NA18998.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0013 a0002c0002t0001g0002 a0002c0002t0001g0013	2	365	0.0055	50	c.48 others(61): Show c.4833_*4834insCCCCCCCCACCCCCATCCCTCTCCTCGCTCCCCT CCCTCTCCTGGCCGCC	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		4285		chr2	TogoVar
RTTN_chr18_69998031_70210687	70013369	C C	CTGTGTGT others(43): Show CTGTGTGTGTATGTATATATACATATGTGTGTGTGTGTGTGTCTGTGTGT G	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03225.hp2 HG03471.hp1 others(2): Show HG03139.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp2 NA18906.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0023 a0003c0004t0003 a0003c0004t0023	a0003c0004t0003g0008 a0003c0004t0003g0011 a0003c0004t0003g0016 others(2): Show a0003c0004t0003g0008 a0003c0004t0003g0011 a0003c0004t0003g0016 a0003c0004t0003g0018 a0003c0004t0023g0024	5	156	0.0321	50	c.642 others(69): Show c.6421+4037_6421+4038insCACACACAGACACACACACACACACA TATGTATATATACATACACACACA	RTTN	ENSG00000176225.15	transcript	ENST00000640769.2	protein_coding	46/48			chr18	TogoVar
RUFY1_chr5_179545554_179615012	179550512	T T	TGCCCGCC others(43): Show TGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCCCCACCCCG C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0053 a0001c0003t0002g0053	1	376	0.0027	50	c.-58 others(57): Show c.-58_-57insGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCG CCCCCACCCCGC	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding		41		chr5	TogoVar
RUFY1_chr5_179545554_179615012	179550536	C C	CCGCCCGC others(43): Show CCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCCCACCCC G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 NA19063.hp2 HG02970.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0017 a0001c0002t0002g0086 a0001c0001t0001g0017 a0001c0002t0002g0086	2	376	0.0053	50	c.-34 others(57): Show c.-34_-33insCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCC GCCCCCACCCCG	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding		17		chr5	TogoVar
RUNDC3B_chr7_87623398_87837296	87626091	T T	TATATATA others(43): Show TATATATATAGTCATATATATGTGTCATATATATAGTCATATATATGTGT C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	202	0.0050	50	c.-27 others(61): Show c.-2733_-2732insATATATATAGTCATATATATGTGTCATATATATA GTCATATATATGTGTC	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		2306		chr7	TogoVar
RUNDC3B_chr7_87623398_87837296	87626091	T T	TATATATA others(43): Show TATATATATAGTCATATATATGTGTCATATATATTGTCATATATATGTGT C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0112 a0001c0001t0004g0112	1	202	0.0050	50	c.-27 others(61): Show c.-2733_-2732insATATATATAGTCATATATATGTGTCATATATATT GTCATATATATGTGTC	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		2306		chr7	TogoVar
RUNDC3B_chr7_87623398_87837296	87626091	T T	TATATATA others(43): Show TATATATATTGTCATATATATGTGTCATATATATTGTCATATATATGTGT C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00738.hp2 HG02976.hp1 others(2): Show HG00323.hp1 HG00738.hp2 HG02976.hp1 HG03579.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0034	a0001c0001t0001g0058 a0001c0001t0004g0019 a0001c0001t0004g0111 others(2): Show a0001c0001t0001g0058 a0001c0001t0004g0019 a0001c0001t0004g0111 a0001c0001t0006g0104 a0001c0001t0034g0079	5	202	0.0248	50	c.-27 others(61): Show c.-2733_-2732insATATATATTGTCATATATATGTGTCATATATATT GTCATATATATGTGTC	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		2306		chr7	TogoVar
RUNDC3B_chr7_87623398_87837296	87626246	A A	ATGTCATA others(43): Show ATGTCATATATATGTGTCATATATATTGTCATATATATGTGTCATATATA T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 NA20752.hp2 HG00741.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0059 a0001c0001t0003g0095 a0001c0001t0001g0059 a0001c0001t0003g0095	2	202	0.0099	50	c.-25 others(61): Show c.-2578_-2577insTGTCATATATATGTGTCATATATATTGTCATATA TATGTGTCATATATAT	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		2151		chr7	TogoVar
RUNDC3B_chr7_87623398_87837296	87626269	T T	TATGTCAT others(43): Show TATGTCATATATATGTGTCATATATATTGTCATATATATGTGTCATATAT A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0046 a0001c0001t0003g0046	1	202	0.0050	50	c.-25 others(61): Show c.-2555_-2554insATGTCATATATATGTGTCATATATATTGTCATAT ATATGTGTCATATATA	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		2128		chr7	TogoVar
RUNDC3B_chr7_87623398_87837296	87626335	C C	CATATATG others(43): Show CATATATGTGTCATATATGTGTCATATATATGTGTCATATATATGTGTCA T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0114 a0001c0001t0005g0114	1	202	0.0050	50	c.-24 others(61): Show c.-2489_-2488insATATATGTGTCATATATGTGTCATATATATGTGT CATATATATGTGTCAT	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		2062		chr7	TogoVar
RUSC2_chr9_35485111_35566895	35495047	A A	AATATATA others(43): Show AATATATACTATAGTATATATTATATATAGTATATATTATATATACTATA G	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0147 a0001c0001t0010g0147	1	322	0.0031	50	c.-93 others(67): Show c.-93+4875_-93+4876insATATATACTATAGTATATATTATATATA GTATATATTATATATACTATAG	RUSC2	ENSG00000198853.12	transcript	ENST00000361226.8	protein_coding	1/11			chr9	TogoVar
RWDD2B_chr21_28999384_29024349	29011556	G G	GCCCGGCC others(43): Show GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCC A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0180 a0001c0001t0003g0180	1	438	0.0023	50	c.68- others(65): Show c.68-2936_68-2935insTGGGGGGCTGACCCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGG	RWDD2B	ENSG00000156253.7	transcript	ENST00000493196.2	protein_coding	1/4			chr21	TogoVar
RWDD2B_chr21_28999384_29024349	29011606	A A	ACCCGGCC others(43): Show ACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCC G	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	438	0.0023	50	c.68- others(65): Show c.68-2986_68-2985insCGGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGG	RWDD2B	ENSG00000156253.7	transcript	ENST00000493196.2	protein_coding	1/4			chr21	TogoVar
RWDD2B_chr21_28999384_29024349	29011648	G G	GCCCCCCG others(43): Show GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAG C	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	438	0.0023	50	c.68- others(65): Show c.68-3028_68-3027insGCTGACCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGG	RWDD2B	ENSG00000156253.7	transcript	ENST00000493196.2	protein_coding	1/4			chr21	TogoVar
RYR2_chr1_237037184_237838988	237473442	T T	TTTCTTTC others(43): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG01099.hp2 others(3): Show HG00280.hp2 HG00408.hp1 HG01099.hp2 HG02523.hp1 HG02523.hp2 HG04228.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0004 a0001c0036 others(2): Show a0001c0003 a0001c0004 a0001c0036 a0001c0044 a0002c0009	a0001c0003t0002 a0001c0004t0018 a0001c0004t0030 others(3): Show a0001c0003t0002 a0001c0004t0018 a0001c0004t0030 a0001c0036t0003 a0001c0044t0002 a0002c0009t0008	a0001c0003t0002g0065 a0001c0004t0018g0047 a0001c0004t0030g0005 others(3): Show a0001c0003t0002g0065 a0001c0004t0018g0047 a0001c0004t0030g0005 a0001c0036t0003g0038 a0001c0044t0002g0014 a0002c0009t0008g0040	6	100	0.0600	50	c.170 others(69): Show c.1708+4275_1708+4276insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTCTTCTTTCTTTCTTTCTTTCT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	17/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237481110	A A	ATGTATAT others(43): Show ATGTATATATATATATATATGTATATACATATATGTATATATATATATAT G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01168.hp2 HG01496.hp1 others(1): Show HG00408.hp2 HG01168.hp2 HG01496.hp1 HG03486.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0005 a0002c0024 a0001c0002 a0001c0005 a0002c0024	a0001c0002t0009 a0001c0002t0026 a0001c0005t0011 others(1): Show a0001c0002t0009 a0001c0002t0026 a0001c0005t0011 a0002c0024t0005	a0001c0002t0009g0021 a0001c0002t0026g0059 a0001c0005t0011g0061 others(1): Show a0001c0002t0009g0021 a0001c0002t0026g0059 a0001c0005t0011g0061 a0002c0024t0005g0013	4	100	0.0400	50	c.170 others(71): Show c.1709-10695_1709-10694insGTATATATATATATATATGTATAT ACATATATGTATATATATATATATGT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	17/104		INFO_REALIGN_3_PRIME	chr1	TogoVar

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