Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
SMCHD1_chr18_2650726_2810017	2685519	A A	AGTCTTTT others(15): Show AGTCTTTTACAACTATTATTACC	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0085 a0001c0004t0001g0085	1	338	0.0030	22	c.639 others(39): Show c.639-2854_639-2853insCGTCTTTTACAACTATTATTAC	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	5/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2708867	C C	CATATATA others(15): Show CATATATATATATGTATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0020 a0001c0012t0020	a0001c0012t0020g0022 a0001c0012t0020g0022	1	275	0.0036	22	c.226 others(39): Show c.2260+959_2260+960insGTATATATATATATATATATAT	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	17/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2708907	T T	TATATATA others(15): Show TATATATATATATATATAAATAA	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA19064.hp1 NA18957.hp1 NA19064.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0076 a0003c0003t0003g0145 a0003c0003t0003g0076 a0003c0003t0003g0145	2	67	0.0299	22	c.226 others(39): Show c.2260+988_2260+989insTATATATATATATATAAATAAA	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	17/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2708907	T T	TATATATA others(15): Show TATATATATATATATATATAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01261.hp1 HG01943.hp1 others(1): Show HG00558.hp2 HG01261.hp1 HG01943.hp1 HG02523.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0004 a0002c0006 a0003c0003 a0001c0004 a0002c0006 a0003c0003	a0001c0004t0001 a0002c0006t0001 a0003c0003t0003 a0001c0004t0001 a0002c0006t0001 a0003c0003t0003	a0001c0004t0001g0114 a0002c0006t0001g0126 a0003c0003t0003g0039 others(1): Show a0001c0004t0001g0114 a0002c0006t0001g0126 a0003c0003t0003g0039 a0003c0003t0003g0107	4	69	0.0580	22	c.226 others(39): Show c.2260+988_2260+989insTATATATATATATATATAAAAA	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	17/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2708907	T T	TATATATA others(15): Show TATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00673.hp2 HG01515.hp1 others(16): Show HG00558.hp1 HG00673.hp2 HG01515.hp1 HG02293.hp1 HG02698.hp2 HG02976.hp2 HG03704.hp1 HG03942.hp1 NA18955.hp1 NA18966.hp2 NA18969.hp1 NA18973.hp2 NA18990.hp2 NA19006.hp2 NA19057.hp2 NA19058.hp2 NA19064.hp2 NA19086.hp1 NA19089.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0004 a0002c0001 a0002c0006 others(7): Show a0001c0004 a0002c0001 a0002c0006 a0002c0010 a0002c0027 a0003c0003 a0003c0011 a0004c0008 a0005c0013 a0005c0014	a0001c0004t0001 a0002c0001t0002 a0002c0006t0001 others(7): Show a0001c0004t0001 a0002c0001t0002 a0002c0006t0001 a0002c0010t0002 a0002c0027t0002 a0003c0003t0003 a0003c0011t0003 a0004c0008t0011 a0005c0013t0003 a0005c0014t0003	a0001c0004t0001g0048 a0001c0004t0001g0059 a0001c0004t0001g0077 others(16): Show a0001c0004t0001g0048 a0001c0004t0001g0059 a0001c0004t0001g0077 a0002c0001t0002g0265 a0002c0001t0002g0289 a0002c0001t0002g0317 a0002c0006t0001g0055 a0002c0006t0001g0116 a0002c0010t0002g0214 a0002c0027t0002g0258 a0003c0003t0003g0053 a0003c0003t0003g0067 a0003c0003t0003g0096 a0003c0003t0003g0104 a0003c0003t0003g0120 a0003c0011t0003g0147 a0004c0008t0011g0249 a0005c0013t0003g0090 a0005c0014t0003g0052	19	84	0.2262	22	c.226 others(39): Show c.2260+988_2260+989insTATATATATATATATATATAAA	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	17/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2709232	G G	GTGTATAT others(15): Show GTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00642.hp2 HG00741.hp2 others(9): Show HG00280.hp2 HG00642.hp2 HG00741.hp2 HG01106.hp1 HG02055.hp2 HG02109.hp2 HG02145.hp1 HG02735.hp1 HG03516.hp1 HG03710.hp2 NA18522.hp2 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0017 a0001c0002t0001g0164 a0001c0002t0001g0188 others(9): Show a0001c0002t0001g0017 a0001c0002t0001g0164 a0001c0002t0001g0188 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0209	12	264	0.0455	22	c.226 others(41): Show c.2260+1313_2260+1314insGTATATATATATATATATATAT	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	17/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2709232	G G	GTGTGTAT others(15): Show GTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0015 a0015	a0015c0025 a0015c0025	a0015c0025t0016 a0015c0025t0016	a0015c0025t0016g0194 a0015c0025t0016g0194	1	253	0.0040	22	c.226 others(41): Show c.2260+1313_2260+1314insGTGTATATATATATATATATAT	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	17/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2745185	T T	TTTTATTT others(15): Show TTTTATTTTAAAAAATTAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(127): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00423.hp1 HG00558.hp1 HG00609.hp1 HG00621.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01081.hp2 HG01106.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01243.hp2 HG01255.hp2 HG01258.hp2 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02015.hp1 HG02040.hp2 HG02055.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02273.hp2 HG02293.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02735.hp1 HG02738.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp1 HG02922.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03491.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18612.hp2 NA18941.hp2 NA18949.hp1 NA18951.hp1 NA18952.hp2 NA18957.hp2 NA18961.hp1 NA18962.hp2 NA18965.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18974.hp2 NA18979.hp1 NA18980.hp2 NA18983.hp1 NA18988.hp2 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19007.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19062.hp2 NA19063.hp2 NA19066.hp1 NA19077.hp2 NA19081.hp1 NA19082.hp1 NA19083.hp1 NA19088.hp2 NA19091.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA20905.hp2	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0015	a0001c0002 a0001c0004 a0001c0012 others(6): Show a0001c0002 a0001c0004 a0001c0012 a0001c0015 a0001c0018 a0001c0030 a0002c0006 a0007c0029 a0015c0025	a0001c0002t0001 a0001c0002t0002 a0001c0002t0031 others(18): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0031 a0001c0002t0032 a0001c0002t0037 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0022 a0001c0004t0030 a0001c0012t0001 a0001c0012t0016 a0001c0012t0020 a0001c0015t0006 a0001c0015t0023 a0001c0018t0001 a0001c0030t0001 a0002c0006t0001 a0002c0006t0015 a0007c0029t0001 a0015c0025t0016	a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0016 others(127): Show a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0166 a0001c0002t0001g0168 a0001c0002t0001g0177 a0001c0002t0001g0180 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0209 a0001c0002t0001g0333 a0001c0002t0001g0335 a0001c0002t0001g0336 a0001c0002t0002g0165 a0001c0002t0002g0167 a0001c0002t0002g0169 a0001c0002t0002g0170 a0001c0002t0002g0171 a0001c0002t0002g0172 a0001c0002t0002g0173 a0001c0002t0002g0174 a0001c0002t0002g0176 a0001c0002t0002g0178 a0001c0002t0002g0179 a0001c0002t0002g0208 a0001c0002t0031g0207 a0001c0002t0032g0181 a0001c0002t0037g0122 a0001c0004t0001g0038 a0001c0004t0001g0046 a0001c0004t0001g0048 a0001c0004t0001g0050 a0001c0004t0001g0056 a0001c0004t0001g0057 a0001c0004t0001g0059 a0001c0004t0001g0064 a0001c0004t0001g0065 a0001c0004t0001g0071 a0001c0004t0001g0073 a0001c0004t0001g0077 a0001c0004t0001g0080 a0001c0004t0001g0085 a0001c0004t0001g0091 a0001c0004t0001g0095 a0001c0004t0001g0097 a0001c0004t0001g0098 a0001c0004t0001g0103 a0001c0004t0001g0112 a0001c0004t0001g0114 a0001c0004t0001g0115 a0001c0004t0001g0117 a0001c0004t0001g0118 a0001c0004t0001g0119 a0001c0004t0001g0131 a0001c0004t0001g0132 a0001c0004t0001g0136 a0001c0004t0001g0138 a0001c0004t0001g0139 a0001c0004t0001g0153 a0001c0004t0001g0154 a0001c0004t0001g0155 a0001c0004t0001g0156 a0001c0004t0001g0210 a0001c0004t0001g0339 a0001c0004t0002g0175 a0001c0004t0002g0197 a0001c0004t0003g0089 a0001c0004t0003g0106 a0001c0004t0003g0121 a0001c0004t0022g0060 a0001c0004t0030g0049 a0001c0012t0001g0255 a0001c0012t0001g0270 a0001c0012t0016g0021 a0001c0012t0020g0022 a0001c0015t0006g0303 a0001c0015t0006g0304 a0001c0015t0023g0305 a0001c0018t0001g0081 a0001c0018t0001g0148 a0001c0030t0001g0069 a0002c0006t0001g0051 a0002c0006t0001g0054 a0002c0006t0001g0055 a0002c0006t0001g0062 a0002c0006t0001g0116 a0002c0006t0001g0123 a0002c0006t0001g0124 a0002c0006t0001g0125 a0002c0006t0001g0126 a0002c0006t0001g0127 a0002c0006t0001g0130 a0002c0006t0015g0137 a0002c0006t0015g0146 a0007c0029t0001g0047 a0015c0025t0016g0194	130	338	0.3846	22	c.380 others(41): Show c.3801+1264_3801+1265insTAAAAAATTAAAAAATTTATTT	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	29/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2745186	T T	TTTATTTT others(15): Show TTTATTTTAAAAAATTAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00423.hp2 others(83): Show HG00099.hp1 HG00323.hp1 HG00423.hp2 HG00609.hp2 HG00621.hp2 HG00642.hp1 HG00735.hp1 HG00738.hp2 HG01069.hp1 HG01071.hp1 HG01099.hp1 HG01109.hp1 HG01123.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01358.hp1 HG01515.hp2 HG01516.hp1 HG01952.hp2 HG02015.hp2 HG02040.hp1 HG02056.hp1 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02165.hp1 HG02258.hp2 HG02293.hp1 HG02486.hp1 HG02523.hp1 HG02630.hp1 HG02683.hp2 HG02698.hp2 HG02735.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03486.hp1 HG03491.hp1 HG03654.hp1 HG03710.hp1 HG03831.hp1 HG03942.hp1 HG04184.hp2 NA18612.hp1 NA18943.hp1 NA18945.hp2 NA18949.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18955.hp2 NA18965.hp2 NA18966.hp1 NA18969.hp2 NA18974.hp1 NA18980.hp1 NA18983.hp2 NA18986.hp1 NA18988.hp1 NA19000.hp1 NA19001.hp1 NA19002.hp2 NA19006.hp1 NA19011.hp1 NA19030.hp2 NA19062.hp1 NA19064.hp2 NA19066.hp2 NA19067.hp2 NA19076.hp1 NA19081.hp2 NA19082.hp2 NA19083.hp2 NA19085.hp2 NA19086.hp1 NA19089.hp2 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20752.hp1	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0008 a0014	a0001c0005 a0001c0009 a0002c0001 others(5): Show a0001c0005 a0001c0009 a0002c0001 a0002c0010 a0002c0027 a0006c0017 a0008c0023 a0014c0028	a0001c0005t0002 a0001c0005t0013 a0001c0005t0028 others(16): Show a0001c0005t0002 a0001c0005t0013 a0001c0005t0028 a0001c0005t0035 a0001c0009t0002 a0002c0001t0001 a0002c0001t0002 a0002c0001t0006 a0002c0001t0008 a0002c0001t0026 a0002c0001t0027 a0002c0001t0033 a0002c0010t0002 a0002c0010t0019 a0002c0027t0002 a0006c0017t0002 a0006c0017t0013 a0008c0023t0002 a0014c0028t0002	a0001c0005t0002g0257 a0001c0005t0002g0266 a0001c0005t0002g0267 others(82): Show a0001c0005t0002g0257 a0001c0005t0002g0266 a0001c0005t0002g0267 a0001c0005t0002g0268 a0001c0005t0002g0269 a0001c0005t0002g0279 a0001c0005t0013g0314 a0001c0005t0013g0315 a0001c0005t0028g0261 a0001c0005t0035g0160 a0001c0009t0002g0019 a0001c0009t0002g0212 a0001c0009t0002g0213 a0001c0009t0002g0215 a0001c0009t0002g0254 a0001c0009t0002g0262 a0001c0009t0002g0320 a0002c0001t0001g0325 a0002c0001t0002g0259 a0002c0001t0002g0260 a0002c0001t0002g0263 a0002c0001t0002g0264 a0002c0001t0002g0265 a0002c0001t0002g0271 a0002c0001t0002g0273 a0002c0001t0002g0274 a0002c0001t0002g0275 a0002c0001t0002g0276 a0002c0001t0002g0277 a0002c0001t0002g0278 a0002c0001t0002g0280 a0002c0001t0002g0282 a0002c0001t0002g0284 a0002c0001t0002g0285 a0002c0001t0002g0286 a0002c0001t0002g0287 a0002c0001t0002g0288 a0002c0001t0002g0289 a0002c0001t0002g0290 a0002c0001t0002g0291 a0002c0001t0002g0292 a0002c0001t0002g0294 a0002c0001t0002g0297 a0002c0001t0002g0299 a0002c0001t0002g0300 a0002c0001t0002g0301 a0002c0001t0002g0302 a0002c0001t0002g0306 a0002c0001t0002g0309 a0002c0001t0002g0311 a0002c0001t0002g0312 a0002c0001t0002g0313 a0002c0001t0002g0316 a0002c0001t0002g0317 a0002c0001t0002g0318 a0002c0001t0002g0319 a0002c0001t0002g0321 a0002c0001t0002g0322 a0002c0001t0002g0323 a0002c0001t0002g0326 a0002c0001t0002g0327 a0002c0001t0002g0328 a0002c0001t0002g0329 a0002c0001t0002g0330 a0002c0001t0002g0332 a0002c0001t0006g0216 a0002c0001t0006g0217 a0002c0001t0006g0218 a0002c0001t0008g0001 a0002c0001t0008g0256 a0002c0001t0008g0331 a0002c0001t0026g0307 a0002c0001t0027g0308 a0002c0001t0033g0295 a0002c0010t0002g0013 a0002c0010t0002g0214 a0002c0010t0002g0283 a0002c0010t0002g0293 a0002c0010t0002g0298 a0002c0010t0019g0211 a0002c0027t0002g0258 a0006c0017t0002g0310 a0006c0017t0013g0324 a0008c0023t0002g0296 a0014c0028t0002g0281	86	338	0.2544	22	c.380 others(41): Show c.3801+1264_3801+1265insTAAAAAATTAAAAAAATTATTT	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	29/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2793656	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA20905.hp2 HG03579.hp2 NA20905.hp2	a0001 a0001	a0001c0004 a0001c0030 a0001c0004 a0001c0030	a0001c0004t0001 a0001c0030t0001 a0001c0004t0001 a0001c0030t0001	a0001c0004t0001g0115 a0001c0030t0001g0069 a0001c0004t0001g0115 a0001c0030t0001g0069	2	214	0.0093	22	c.572 others(41): Show c.5720-2278_5720-2277insAAAAAAAAAAAAAAAAAAAAAA	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	45/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMG1_chr16_18799860_18931408	18844570	T T	TCACACAC others(15): Show TCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02135.hp2 NA18612.hp1 others(11): Show HG02083.hp1 HG02135.hp2 NA18612.hp1 NA18747.hp2 NA18941.hp1 NA18945.hp1 NA18946.hp1 NA18955.hp1 NA18962.hp2 NA18969.hp2 NA18973.hp1 NA18990.hp1 NA19009.hp2 NA19077.hp2	a0002 a0003 a0002 a0003	a0002c0005 a0003c0006 a0003c0017 a0002c0005 a0003c0006 a0003c0017	a0002c0005t0003 a0003c0006t0003 a0003c0017t0003 a0002c0005t0003 a0003c0006t0003 a0003c0017t0003	a0002c0005t0003g0178 a0002c0005t0003g0179 a0003c0006t0003g0181 others(11): Show a0002c0005t0003g0178 a0002c0005t0003g0179 a0003c0006t0003g0181 a0003c0006t0003g0183 a0003c0006t0003g0196 a0003c0006t0003g0198 a0003c0006t0003g0199 a0003c0006t0003g0200 a0003c0006t0003g0201 a0003c0006t0003g0202 a0003c0006t0003g0203 a0003c0006t0003g0207 a0003c0006t0003g0212 a0003c0017t0003g0204	14	153	0.0915	22	c.621 others(39): Show c.6219+858_6219+859insTGTGTGTGTGTGTGTGTGTGTG	SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding	39/62			chr16	TogoVar
SMG1_chr16_18799860_18931408	18849069	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0268 a0001c0002t0005g0268	1	65	0.0154	22	c.562 others(39): Show c.5623+126_5623+147dupTTTTTTTTTTTTTTTTTTTTTT	SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding	36/62			chr16	TogoVar
SMG6_chr17_2054843_2308785	2066652	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG03710.hp1 HG01255.hp1 HG03710.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0003c0003t0001 a0002c0002t0002 a0003c0003t0001	a0002c0002t0002g0040 a0003c0003t0001g0167 a0002c0002t0002g0040 a0003c0003t0001g0167	2	7	0.2857	22	c.383 others(39): Show c.3836-995_3836-974dupGTGTGTGTGTGTGTGTGTGTGT	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	16/18			chr17	TogoVar
SMG6_chr17_2054843_2308785	2119632	T T	TGGGATTA others(15): Show TGGGATTACAGGCATGTACCACC	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0159 a0003c0003t0001g0159	1	276	0.0036	22	c.335 others(43): Show c.3358-33753_3358-33732dupGGTGGTACATGCCTGTAATCCC	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	13/18			chr17	TogoVar
SMG6_chr17_2054843_2308785	2130266	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01123.hp1 HG01952.hp2 others(8): Show HG01070.hp1 HG01123.hp1 HG01952.hp2 HG02055.hp1 HG02738.hp1 HG03130.hp1 HG03492.hp2 HG03704.hp2 HG04204.hp2 NA18943.hp1 NA19080.hp1	a0002 a0003 a0004 others(2): Show a0002 a0003 a0004 a0006 a0024	a0002c0002 a0003c0003 a0004c0004 others(2): Show a0002c0002 a0003c0003 a0004c0004 a0006c0005 a0024c0029	a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 others(4): Show a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 a0004c0004t0002 a0004c0004t0021 a0006c0005t0001 a0024c0029t0001	a0002c0002t0001g0029 a0002c0002t0001g0050 a0002c0002t0001g0126 others(8): Show a0002c0002t0001g0029 a0002c0002t0001g0050 a0002c0002t0001g0126 a0002c0002t0002g0034 a0002c0002t0002g0038 a0002c0002t0002g0042 a0003c0003t0001g0168 a0004c0004t0002g0085 a0004c0004t0021g0219 a0006c0005t0001g0111 a0024c0029t0001g0072	11	97	0.1134	22	c.335 others(43): Show c.3357+42391_3357+42392insTTTTTTTTTTTTTTTTTTTTTT	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	13/18			chr17	TogoVar
SMG9_chr19_43722983_43759962	43724830	T T	TATATATA others(15): Show TATATATATACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0192 a0001c0001t0008g0192	1	73	0.0137	22	c.67 others(33): Show c.6765_*6766insGTGTGTGTGTGTGTATATATAT	SMG9	ENSG00000105771.14	transcript	ENST00000270066.11	protein_coding		3152		chr19	TogoVar
SMG9_chr19_43722983_43759962	43724830	T T	TATATATA others(15): Show TATATATATATACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0074 a0001c0001t0032g0074	1	73	0.0137	22	c.67 others(33): Show c.6765_*6766insGTGTGTGTGTGTATATATATAT	SMG9	ENSG00000105771.14	transcript	ENST00000270066.11	protein_coding		3152		chr19	TogoVar
SMG9_chr19_43722983_43759962	43728340	T T	TGGGCATG others(15): Show TGGGCATGTGAAGTACCTGCTCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01243.hp1 NA18522.hp2 HG01243.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0025 a0001c0001t0023g0025	2	318	0.0063	22	c.32 others(33): Show c.3234_*3255dupGGAGCAGGTACTTCACATGCCC	SMG9	ENSG00000105771.14	transcript	ENST00000270066.11	protein_coding	14/14	3255		chr19	TogoVar
SMG9_chr19_43722983_43759962	43752902	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02572.hp2 HG02630.hp1 HG01123.hp2 HG02572.hp2 HG02630.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0020 a0001c0001t0002 a0002c0003t0020	a0001c0001t0002g0020 a0002c0003t0020g0092 a0001c0001t0002g0020 a0002c0003t0020g0092	3	200	0.0150	22	c.-7+ others(37): Show c.-7+1751_-7+1752insTTTTTTTTTTTTTTTTTTTTTT	SMG9	ENSG00000105771.14	transcript	ENST00000270066.11	protein_coding	1/13			chr19	TogoVar
SMIM14_chr4_39541336_39643865	39576660	G G	GTGTATAT others(15): Show GTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0087 a0001c0001t0002g0087	1	63	0.0159	22	c.76- others(37): Show c.76-4198_76-4197insTATATATATATATATATATACA	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	2/4			chr4	TogoVar
SMIM14_chr4_39541336_39643865	39576660	G G	GTGTGTAT others(15): Show GTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02132.hp1 NA19012.hp1 others(1): Show HG01943.hp2 HG02132.hp1 NA19012.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0015 a0001c0001t0002 a0001c0001t0015	a0001c0001t0002g0049 a0001c0001t0002g0073 a0001c0001t0002g0243 others(1): Show a0001c0001t0002g0049 a0001c0001t0002g0073 a0001c0001t0002g0243 a0001c0001t0015g0062	4	66	0.0606	22	c.76- others(37): Show c.76-4198_76-4197insTATATATATATATATATACACA	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	2/4			chr4	TogoVar
SMIM14_chr4_39541336_39643865	39584481	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00738.hp2 HG01099.hp2 others(13): Show HG00558.hp2 HG00738.hp2 HG01099.hp2 HG01123.hp2 HG01361.hp2 HG02055.hp1 HG02523.hp2 HG03453.hp2 HG04184.hp1 NA18946.hp2 NA18963.hp1 NA19000.hp1 NA19007.hp2 NA19043.hp2 NA20300.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 others(2): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0013 a0001c0001t0020	a0001c0001t0003g0099 a0001c0001t0004g0007 a0001c0001t0004g0079 others(13): Show a0001c0001t0003g0099 a0001c0001t0004g0007 a0001c0001t0004g0079 a0001c0001t0004g0096 a0001c0001t0004g0179 a0001c0001t0004g0228 a0001c0001t0004g0248 a0001c0001t0004g0249 a0001c0001t0004g0253 a0001c0001t0004g0287 a0001c0001t0004g0313 a0001c0001t0012g0028 a0001c0001t0012g0031 a0001c0001t0013g0003 a0001c0001t0013g0107 a0001c0001t0020g0340	16	51	0.3137	22	c.76- others(39): Show c.76-12040_76-12019dupTTTTTTTTTTTTTTTTTTTTTT	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	2/4			chr4	TogoVar
SMIM22_chr16_4790369_4801491	4792873	G G	GCCAAGGT others(15): Show GCCAAGGTGGGTGAATCACCTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	400	0.0025	22	c.-25 others(33): Show c.-2597_-2596insCCAAGGTGGGTGAATCACCTGA	SMIM22	ENSG00000267795.6	transcript	ENST00000586005.6	protein_coding		2495		chr16	TogoVar
SMIM35_chr11_117998634_118091963	118045330	G G	GCACACAC others(15): Show GCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02027.hp1 HG02083.hp2 others(1): Show HG00323.hp2 HG02027.hp1 HG02083.hp2 NA19009.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0008 a0002c0002t0002 a0001c0001t0001 a0001c0001t0008 a0002c0002t0002	a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0008g0368 others(1): Show a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0008g0368 a0002c0002t0002g0023	4	116	0.0345	22	c.8-2 others(37): Show c.8-29543_8-29522dupTGTGTGTGTGTGTGTGTGTGTG	SMIM35	ENSG00000255274.10	transcript	ENST00000689828.1	protein_coding	1/4			chr11	TogoVar
SMIM36_chr17_55444856_55516452	55500775	A A	ATATAATA others(15): Show ATATAATATATTATTATATATTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	338	0.0030	22	c.17 others(43): Show c.174+10082_*174+10103dupAAATATATAATAATATATTATA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM39_chr2_131030092_131040262	131032822	C C	CTTTCTTT others(15): Show CTTTCTTTTTTCTTTTCTTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02109.hp2 HG02451.hp2 HG02055.hp1 HG02109.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	320	0.0094	22	c.-22 others(33): Show c.-2270_-2269insTTTCTTTTTTCTTTTCTTTTCT	SMIM39	ENSG00000284479.3	transcript	ENST00000711663.1	protein_coding		2269		chr2	TogoVar
SMIM3_chr5_150773757_150801734	150797318	A A	ATATATAT others(15): Show ATATATATTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG03209.hp2 HG02809.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	2	170	0.0118	22	c.16 others(33): Show c.1695_*1696insTATATATTTTTTTTTTTTTTTT	SMIM3	ENSG00000256235.3	transcript	ENST00000526627.2	protein_coding		585		chr5	TogoVar
SMIM46_chr19_14107324_14117476	14109963	A A	AATATATA others(15): Show AATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	287	0.0035	22	c.23 others(33): Show c.2360_*2361insATATATATATATATATATATAT	SMIM46	ENSG00000289762.1	transcript	ENST00000699221.1	protein_coding		2360		chr19	TogoVar
SMIM46_chr19_14107324_14117476	14109965	A A	AATATATA others(15): Show AATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	172	0.0058	22	c.23 others(33): Show c.2337_*2358dupATATATATATATATATATATAT	SMIM46	ENSG00000289762.1	transcript	ENST00000699221.1	protein_coding		2358		chr19	TogoVar
SMN1_chr5_70920087_70958015	70936151	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	5	0.2000	22	c.82- others(37): Show c.82-2672_82-2671insTTTTTTTTTTTTTTTTTTTTTT	SMN1	ENSG00000172062.17	transcript	ENST00000380707.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SMOC2_chr6_168436184_168672992	168599598	C C	CATACCCC others(15): Show CATACCCCACACACCCACACATA	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0007 a0001c0002t0002g0007	1	178	0.0056	22	c.824 others(37): Show c.824+594_824+595insATACCCCACACACCCACACATA	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	8/12			chr6	TogoVar
SMOC2_chr6_168436184_168672992	168636953	T T	TCTTTCCT others(15): Show TCTTTCCTCCCTCCTCCCTCCTG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	178	0.0056	22	c.908 others(41): Show c.908-13710_908-13689dupTCCTGCTTTCCTCCCTCCTCCC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168664384	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	14	0.0714	22	c.132 others(39): Show c.1323+284_1323+305dupTTTTTTTTTTTTTTTTTTTTTT	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168668830	T T	TCCCCTCC others(15): Show TCCCCTCCCCCACACCTGCTGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00423.hp2 others(68): Show HG00099.hp2 HG00280.hp1 HG00423.hp2 HG00673.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01081.hp2 HG01167.hp1 HG01167.hp2 HG01243.hp1 HG01256.hp2 HG01261.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01516.hp2 HG01884.hp2 HG01978.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02135.hp2 HG02559.hp2 HG02572.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02896.hp2 HG02897.hp1 HG02970.hp1 HG02970.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp1 HG03834.hp1 HG04184.hp2 HG04228.hp2 NA18522.hp1 NA18612.hp1 NA18906.hp2 NA18941.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18950.hp2 NA18960.hp1 NA18971.hp2 NA18983.hp2 NA19000.hp2 NA19030.hp2 NA19068.hp1 NA19079.hp2 NA19080.hp2 NA19085.hp2 NA19088.hp2 NA19091.hp1 NA20752.hp1 NA20752.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0008 a0001c0011 a0001c0013 a0003c0009 a0004c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(16): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0002t0002 a0001c0002t0005 a0001c0002t0007 a0001c0002t0013 a0001c0002t0014 a0001c0003t0001 a0001c0003t0004 a0001c0004t0005 a0001c0007t0005 a0001c0008t0002 a0001c0011t0006 a0001c0013t0002 a0003c0009t0003 a0004c0012t0010	a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0077 others(68): Show a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0124 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0157 a0001c0001t0001g0164 a0001c0001t0001g0172 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0090 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0109 a0001c0001t0003g0116 a0001c0001t0003g0120 a0001c0001t0003g0135 a0001c0001t0003g0149 a0001c0001t0003g0169 a0001c0001t0004g0118 a0001c0001t0004g0122 a0001c0001t0004g0129 a0001c0001t0006g0128 a0001c0001t0006g0160 a0001c0001t0009g0161 a0001c0002t0002g0007 a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0012 a0001c0002t0002g0013 a0001c0002t0002g0017 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0032 a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0061 a0001c0002t0002g0065 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0005g0069 a0001c0002t0007g0016 a0001c0002t0007g0053 a0001c0002t0013g0062 a0001c0002t0014g0005 a0001c0003t0001g0155 a0001c0003t0004g0100 a0001c0003t0004g0101 a0001c0003t0004g0102 a0001c0004t0005g0048 a0001c0004t0005g0049 a0001c0004t0005g0051 a0001c0007t0005g0050 a0001c0008t0002g0042 a0001c0011t0006g0167 a0001c0013t0002g0033 a0003c0009t0003g0086 a0004c0012t0010g0076	71	177	0.4011	22	c.23 others(33): Show c.2392_*2393insCCCCTCCCCCACACCTGCTGTC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding		839		chr6	TogoVar
SMOX_chr20_4143828_4192727	4153303	T T	TCATCTGC others(15): Show TCATCTGCCTGTAAAATGGGAAC	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0388 a0001c0003t0001g0388	1	426	0.0023	22	c.-27 others(39): Show c.-27+4346_-27+4347insACCATCTGCCTGTAAAATGGGA	SMOX	ENSG00000088826.18	transcript	ENST00000305958.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
SMOX_chr20_4143828_4192727	4154124	A A	AAGTGGGT others(15): Show AAGTGGGTTGAAGCCAGGCCTGG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0342 a0001c0008t0003g0342	1	426	0.0023	22	c.-27 others(39): Show c.-27+5164_-27+5165insCCTGGAGTGGGTTGAAGCCAGG	SMOX	ENSG00000088826.18	transcript	ENST00000305958.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
SMO_chr7_129183633_129218545	129193779	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	401	0.0025	22	c.331 others(39): Show c.331+4298_331+4299insTATATATATATATATATATATA	SMO	ENSG00000128602.11	transcript	ENST00000249373.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
SMO_chr7_129183633_129218545	129193781	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	368	0.0027	22	c.331 others(39): Show c.331+4300_331+4301insTATATATATATATATATATATA	SMO	ENSG00000128602.11	transcript	ENST00000249373.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
SMO_chr7_129183633_129218545	129193785	A A	AAAAAATA others(15): Show AAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0010 a0002c0006t0010	a0002c0006t0010g0021 a0002c0006t0010g0021	1	228	0.0044	22	c.331 others(39): Show c.331+4304_331+4305insAAAATATATATATATATATATA	SMO	ENSG00000128602.11	transcript	ENST00000249373.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
SMPD2_chr6_109435724_109448919	109448097	G G	GACACACA others(15): Show GACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00544.hp1 HG01123.hp1 others(36): Show HG00323.hp1 HG00544.hp1 HG01123.hp1 HG01261.hp1 HG01943.hp2 HG01975.hp1 HG02015.hp1 HG02132.hp1 HG02148.hp2 HG02293.hp2 HG02451.hp2 HG02615.hp1 HG02622.hp2 HG02683.hp1 HG02818.hp1 HG02896.hp1 HG03017.hp1 HG03491.hp1 HG03491.hp2 HG03927.hp2 NA18612.hp2 NA18939.hp1 NA18943.hp1 NA18946.hp1 NA18950.hp2 NA18951.hp2 NA18954.hp1 NA18957.hp2 NA18969.hp1 NA18983.hp1 NA18989.hp1 NA18992.hp1 NA18995.hp1 NA19002.hp1 NA19005.hp2 NA19043.hp1 NA19060.hp1 NA19060.hp2 NA19067.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0001c0004 a0003c0003 a0001c0002 a0001c0004 a0003c0003	a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 others(3): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0004t0001 a0001c0004t0003 a0003c0003t0002	a0001c0002t0001g0003 a0001c0002t0001g0009 a0001c0002t0002g0002 others(5): Show a0001c0002t0001g0003 a0001c0002t0001g0009 a0001c0002t0002g0002 a0001c0002t0004g0001 a0001c0004t0001g0004 a0001c0004t0003g0003 a0001c0004t0003g0008 a0003c0003t0002g0001	39	213	0.1831	22	c.41 others(33): Show c.4192_*4193insACACACACACACACACACACAC	SMPD2	ENSG00000135587.9	transcript	ENST00000258052.8	protein_coding		4179		chr6	TogoVar
SMPDL3B_chr1_27930000_27964152	27933785	A A	AAAAAAAA others(15): Show AAAAAAAAACAAAAAAAAAAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0054 a0001c0001t0003g0054	1	318	0.0031	22	c.-13 others(33): Show c.-1399_-1398insAAAAAAAACAAAAAAAAAAAAC	SMPDL3B	ENSG00000130768.15	transcript	ENST00000373894.8	protein_coding		1214		chr1	TogoVar
SMR3B_chr4_70378131_70395244	70385398	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0077 a0001c0001t0002g0077	1	53	0.0189	22	c.54+ others(35): Show c.54+836_54+857dupTTTTTTTTTTTTTTTTTTTTTT	SMR3B	ENSG00000171201.12	transcript	ENST00000304915.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
SMR3B_chr4_70378131_70395244	70391020	C C	CACACACA others(15): Show CACACACACACACATATACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG02132.hp2 HG06807.hp1 HG00639.hp2 HG02132.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0082 a0001c0001t0001g0091 a0001c0001t0001g0003 a0001c0001t0001g0082 a0001c0001t0001g0091	3	282	0.0106	22	c.11 others(33): Show c.1172_*1173insACACACACACACATATACACAT	SMR3B	ENSG00000171201.12	transcript	ENST00000304915.8	protein_coding		777		chr4	TogoVar
SMR3B_chr4_70378131_70395244	70391020	C C	CACACACA others(15): Show CACACACACACATATATACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG00438.hp1 others(47): Show HG00099.hp2 HG00423.hp2 HG00438.hp1 HG00597.hp1 HG00621.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp2 HG00741.hp1 HG01168.hp1 HG01169.hp1 HG01243.hp1 HG01261.hp2 HG02015.hp2 HG02027.hp2 HG02071.hp1 HG02083.hp2 HG02109.hp1 HG02155.hp1 HG03453.hp1 HG03710.hp1 HG03831.hp1 HG04115.hp1 HG04199.hp1 NA18747.hp2 NA18941.hp1 NA18944.hp1 NA18953.hp2 NA18957.hp2 NA18961.hp2 NA18965.hp1 NA18969.hp2 NA18974.hp1 NA18977.hp1 NA18982.hp2 NA18984.hp2 NA18986.hp1 NA18995.hp1 NA19000.hp1 NA19007.hp2 NA19063.hp1 NA19065.hp1 NA19070.hp1 NA19076.hp2 NA19078.hp2 NA19082.hp2 NA19085.hp2 NA19086.hp2 NA20129.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0036 others(6): Show a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0036 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067	50	329	0.1520	22	c.11 others(33): Show c.1172_*1173insACACACACACATATATACACAT	SMR3B	ENSG00000171201.12	transcript	ENST00000304915.8	protein_coding		777		chr4	TogoVar
SMR3B_chr4_70378131_70395244	70391058	C C	CATATATA others(15): Show CATATATATATATACACATACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp2 HG02559.hp2 HG02647.hp1 others(5): Show HG01361.hp2 HG02559.hp2 HG02647.hp1 HG02965.hp1 HG02970.hp2 NA19011.hp2 NA19056.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0016	8	26	0.3077	22	c.12 others(33): Show c.1210_*1211insATATATATATATACACATACAT	SMR3B	ENSG00000171201.12	transcript	ENST00000304915.8	protein_coding		815		chr4	TogoVar
SMR3B_chr4_70378131_70395244	70391063	A A	ATATATAT others(15): Show ATATATATACACATACATAGTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	460	0.0022	22	c.12 others(33): Show c.1215_*1216insTATATATACACATACATAGTAT	SMR3B	ENSG00000171201.12	transcript	ENST00000304915.8	protein_coding		820		chr4	TogoVar
SMS_chrX_21935709_21999837	21944539	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0112 a0001c0001t0004g0112	1	278	0.0036	22	c.49+ others(37): Show c.49+3672_49+3673insAAAAAAAAAAAAAAAGAAAAAA	SMS	ENSG00000102172.16	transcript	ENST00000404933.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
SMS_chrX_21935709_21999837	21988662	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA19005.hp1 NA18951.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0295 a0001c0001t0001g0228 a0001c0001t0001g0295	2	5	0.4000	22	c.945 others(39): Show c.945+3448_945+3469dupAAAAAAAAAAAAAAAAAAAAAA	SMS	ENSG00000102172.16	transcript	ENST00000404933.7	protein_coding	9/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
SMU1_chr9_33036765_33081674	33039536	C C	CATATATA others(15): Show CATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp2 HG02129.hp1 HG02965.hp1 others(1): Show HG01981.hp2 HG02129.hp1 HG02965.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0023 a0001c0001t0002g0083 a0001c0001t0002g0085 others(1): Show a0001c0001t0002g0023 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0005g0042	4	304	0.0132	22	c.77 others(33): Show c.7756_*7757insATATATATATATATATATATAT	SMU1	ENSG00000122692.9	transcript	ENST00000397149.4	protein_coding		2228		chr9	TogoVar
SMU1_chr9_33036765_33081674	33049764	C C	CCACACAC others(15): Show CCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0087 a0001c0001t0002g0087	1	250	0.0040	22	c.129 others(41): Show c.1291-1528_1291-1507dupTGTGTGTGTGTGTGTGTGTGTG	SMU1	ENSG00000122692.9	transcript	ENST00000397149.4	protein_coding	10/11			chr9	TogoVar

Search by Variant

Search

Search Results