Joint Open Genome and Omics Platform (JoGo)

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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
SMIM13_chr6_11088834_11143733	11096695	T T	TTTTTTTC TTTTTTTC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00642.hp1 others(46): Show HG00140.hp2 HG00280.hp1 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01168.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01891.hp2 HG01975.hp1 HG01978.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02622.hp1 HG02723.hp2 HG02818.hp1 HG02886.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp2 HG03471.hp1 HG03490.hp1 HG03492.hp1 HG03540.hp1 HG03710.hp1 HG03834.hp2 HG03927.hp2 HG04184.hp1 HG04199.hp1 NA18522.hp1 NA18522.hp2 NA19240.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 others(6): Show a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0017 a0001c0001t0022 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0002t0027	a0001c0001t0006g0007 a0001c0001t0006g0036 a0001c0001t0006g0253 others(39): Show a0001c0001t0006g0007 a0001c0001t0006g0036 a0001c0001t0006g0253 a0001c0001t0006g0258 a0001c0001t0006g0259 a0001c0001t0006g0260 a0001c0001t0006g0261 a0001c0001t0006g0268 a0001c0001t0006g0269 a0001c0001t0006g0270 a0001c0001t0006g0271 a0001c0001t0006g0272 a0001c0001t0006g0273 a0001c0001t0006g0274 a0001c0001t0006g0275 a0001c0001t0006g0276 a0001c0001t0007g0033 a0001c0001t0007g0034 a0001c0001t0007g0035 a0001c0001t0007g0254 a0001c0001t0007g0255 a0001c0001t0007g0256 a0001c0001t0007g0257 a0001c0001t0007g0262 a0001c0001t0007g0263 a0001c0001t0007g0264 a0001c0001t0007g0265 a0001c0001t0007g0266 a0001c0001t0007g0267 a0001c0001t0007g0277 a0001c0001t0007g0278 a0001c0001t0007g0280 a0001c0001t0007g0284 a0001c0001t0010g0281 a0001c0001t0010g0282 a0001c0001t0010g0283 a0001c0001t0017g0034 a0001c0001t0022g0279 a0001c0001t0028g0176 a0001c0001t0029g0177 a0001c0001t0030g0285 a0001c0002t0027g0249	49	391	0.1253	7	c.76+ others(22): Show c.76+2320_76+2326dupCTTTTTT	SMIM13	ENSG00000224531.6	transcript	ENST00000416247.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMIM14_chr4_39541336_39643865	39576685	T T	TATATATA TATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA18990.hp2 NA19002.hp2 others(2): Show HG02258.hp1 NA18990.hp2 NA19002.hp2 NA19070.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0027 a0001c0001t0043 a0001c0001t0004 a0001c0001t0027 a0001c0001t0043	a0001c0001t0004g0033 a0001c0001t0004g0196 a0001c0001t0004g0220 others(2): Show a0001c0001t0004g0033 a0001c0001t0004g0196 a0001c0001t0004g0220 a0001c0001t0027g0235 a0001c0001t0043g0339	5	278	0.0180	7	c.76- others(22): Show c.76-4223_76-4222insTATATAT	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	2/4			chr4	TogoVar
SMIM14_chr4_39541336_39643865	39622073	C C	CTTTTTTG CTTTTTTG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01433.hp1 HG01257.hp2 HG01258.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0011 a0001c0001t0005 a0001c0001t0011	a0001c0001t0005g0002 a0001c0001t0011g0209 a0001c0001t0005g0002 a0001c0001t0011g0209	3	342	0.0088	7	c.-36 others(26): Show c.-36+16659_-36+16665dupCAAAAAA	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	1/4			chr4	TogoVar
SMIM17_chr19_56638159_56662247	56659734	C C	CTTTTTTT CTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02615.hp2 HG02717.hp1 others(8): Show HG02257.hp1 HG02615.hp2 HG02717.hp1 HG02886.hp1 HG03041.hp1 HG03471.hp2 HG03540.hp2 HG03927.hp2 NA18990.hp2 NA19043.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 a0001c0001t0015 a0001c0001t0031	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0116 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0116 a0001c0001t0006g0033 a0001c0001t0006g0070 a0001c0001t0010g0021 a0001c0001t0010g0204 a0001c0001t0015g0043 a0001c0001t0031g0021	11	210	0.0524	7	c.45 others(18): Show c.4521_*4522insTTTTTTT	SMIM17	ENSG00000268182.6	transcript	ENST00000598409.6	protein_coding		2488		chr19	TogoVar
SMIM2_chr13_44138150_44166257	44150820	A A	AACAACAC AACAACAC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01891.hp1 HG03225.hp2 HG01074.hp2 HG01891.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	3	135	0.0222	7	c.254 others(24): Show c.254-6899_254-6898insGTGTTGT	SMIM2	ENSG00000139656.8	transcript	ENST00000400419.2	protein_coding	2/2			chr13	TogoVar
SMIM2_chr13_44138150_44166257	44154558	A A	ACACTCTT ACACTCTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01361.hp2 HG02015.hp1 others(22): Show HG01109.hp1 HG01361.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02056.hp1 HG02080.hp1 HG03098.hp2 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03831.hp2 HG04184.hp2 NA18942.hp1 NA18947.hp2 NA18959.hp2 NA18971.hp2 NA18978.hp2 NA18988.hp2 NA19005.hp2 NA19055.hp1 NA19055.hp2 NA19058.hp1 NA19079.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0007 a0001c0001t0001g0026 a0001c0001t0001g0037 others(3): Show a0001c0001t0001g0007 a0001c0001t0001g0026 a0001c0001t0001g0037 a0001c0001t0002g0016 a0001c0001t0003g0015 a0001c0001t0003g0088	25	55	0.4545	7	c.253 others(24): Show c.253+6044_253+6045insAAGAGTG	SMIM2	ENSG00000139656.8	transcript	ENST00000400419.2	protein_coding	2/2			chr13	TogoVar
SMIM31_chr4_164749131_164808795	164758801	A A	ATTTTTTT ATTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02572.hp1 HG02809.hp2 others(3): Show HG02280.hp1 HG02572.hp1 HG02809.hp2 HG03195.hp2 HG03516.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0013 a0001c0001t0002g0012 a0001c0001t0002g0026 others(3): Show a0001c0001t0001g0013 a0001c0001t0002g0012 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0003g0011 a0001c0001t0003g0016	6	15	0.4000	7	c.-26 others(24): Show c.-26+4424_-26+4430dupTTTTTTT	SMIM31	ENSG00000248771.5	transcript	ENST00000507311.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
SMIM31_chr4_164749131_164808795	164772585	A A	ATTTTATT ATTTTATT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00423.hp1 others(123): Show HG00099.hp1 HG00099.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01243.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp2 HG01361.hp1 HG01496.hp2 HG01517.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02273.hp1 HG02280.hp1 HG02523.hp1 HG02559.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02683.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02922.hp1 HG03098.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp2 HG03490.hp2 HG03492.hp1 HG03540.hp2 HG03669.hp2 HG03688.hp2 HG03942.hp2 HG04115.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp2 NA18940.hp1 NA18942.hp2 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18955.hp2 NA18957.hp1 NA18960.hp2 NA18965.hp1 NA18969.hp2 NA18971.hp1 NA18975.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18984.hp2 NA18985.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19004.hp1 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19056.hp2 NA19060.hp1 NA19066.hp1 NA19067.hp1 NA19070.hp2 NA19075.hp2 NA19077.hp1 NA19078.hp2 NA19079.hp1 NA19084.hp1 NA19085.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA20129.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0019 a0001c0001t0024 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0002t0002 a0001c0004t0003 a0002c0003t0007	a0001c0001t0001g0013 a0001c0001t0001g0040 a0001c0001t0001g0043 others(122): Show a0001c0001t0001g0013 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0119 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0268 a0001c0001t0001g0287 a0001c0001t0001g0290 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0317 a0001c0001t0001g0325 a0001c0001t0001g0328 a0001c0001t0001g0335 a0001c0001t0001g0337 a0001c0001t0001g0355 a0001c0001t0002g0004 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0041 a0001c0001t0002g0095 a0001c0001t0002g0098 a0001c0001t0002g0122 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0151 a0001c0001t0002g0227 a0001c0001t0002g0262 a0001c0001t0002g0265 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0291 a0001c0001t0002g0294 a0001c0001t0002g0304 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0331 a0001c0001t0002g0334 a0001c0001t0002g0338 a0001c0001t0002g0341 a0001c0001t0002g0347 a0001c0001t0002g0350 a0001c0001t0002g0354 a0001c0001t0002g0359 a0001c0001t0002g0362 a0001c0001t0002g0363 a0001c0001t0003g0211 a0001c0001t0003g0241 a0001c0001t0003g0300 a0001c0001t0003g0324 a0001c0001t0003g0329 a0001c0001t0003g0343 a0001c0001t0004g0036 a0001c0001t0004g0050 a0001c0001t0004g0072 a0001c0001t0004g0205 a0001c0001t0004g0210 a0001c0001t0004g0222 a0001c0001t0004g0231 a0001c0001t0004g0281 a0001c0001t0004g0285 a0001c0001t0004g0292 a0001c0001t0004g0301 a0001c0001t0004g0318 a0001c0001t0004g0319 a0001c0001t0004g0322 a0001c0001t0004g0323 a0001c0001t0004g0326 a0001c0001t0004g0330 a0001c0001t0004g0332 a0001c0001t0004g0336 a0001c0001t0004g0342 a0001c0001t0004g0348 a0001c0001t0004g0351 a0001c0001t0004g0352 a0001c0001t0004g0353 a0001c0001t0004g0358 a0001c0001t0004g0360 a0001c0001t0005g0001 a0001c0001t0005g0206 a0001c0001t0005g0219 a0001c0001t0005g0223 a0001c0001t0005g0249 a0001c0001t0005g0251 a0001c0001t0005g0257 a0001c0001t0005g0269 a0001c0001t0005g0270 a0001c0001t0005g0280 a0001c0001t0005g0306 a0001c0001t0005g0333 a0001c0001t0005g0345 a0001c0001t0005g0346 a0001c0001t0008g0238 a0001c0001t0019g0242 a0001c0001t0019g0266 a0001c0001t0024g0239 a0001c0001t0030g0097 a0001c0001t0031g0327 a0001c0001t0032g0110 a0001c0001t0033g0139 a0001c0002t0002g0046 a0001c0004t0003g0320 a0002c0003t0007g0277	126	211	0.5972	7	c.112 others(24): Show c.112+2034_112+2035insATTTTTT	SMIM31	ENSG00000248771.5	transcript	ENST00000507311.1	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
SMIM31_chr4_164749131_164808795	164782729	C C	CATCAAAT CATCAAAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00673.hp2 HG01109.hp1 others(31): Show HG00558.hp2 HG00673.hp2 HG01109.hp1 HG02132.hp2 HG02145.hp2 HG02280.hp1 HG02559.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02818.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG03098.hp1 HG03195.hp1 HG03209.hp2 HG03453.hp2 HG03486.hp1 NA18747.hp2 NA18906.hp1 NA18942.hp2 NA18944.hp2 NA18946.hp2 NA18954.hp2 NA18975.hp2 NA19030.hp2 NA19056.hp2 NA19066.hp2 NA19077.hp2 NA19090.hp2 NA20129.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0013 a0001c0001t0017 a0001c0001t0019 a0001c0001t0029 a0001c0001t0030 a0001c0001t0036 a0001c0002t0002 a0001c0004t0003 a0002c0003t0007	a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0087 others(31): Show a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0221 a0001c0001t0001g0248 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0337 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0041 a0001c0001t0002g0122 a0001c0001t0002g0265 a0001c0001t0003g0324 a0001c0001t0005g0093 a0001c0001t0005g0105 a0001c0001t0005g0107 a0001c0001t0005g0261 a0001c0001t0007g0111 a0001c0001t0007g0113 a0001c0001t0008g0235 a0001c0001t0013g0150 a0001c0001t0017g0118 a0001c0001t0019g0242 a0001c0001t0019g0266 a0001c0001t0029g0048 a0001c0001t0030g0097 a0001c0001t0036g0236 a0001c0002t0002g0046 a0001c0004t0003g0320 a0002c0003t0007g0277	34	362	0.0939	7	c.112 others(26): Show c.112+12176_112+12182dupTCAAATA	SMIM31	ENSG00000248771.5	transcript	ENST00000507311.1	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
SMIM31_chr4_164749131_164808795	164783232	A A	AAAAAAAC AAAAAAAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00621.hp2 HG00735.hp1 others(40): Show HG00438.hp1 HG00621.hp2 HG00735.hp1 HG01175.hp2 HG01361.hp2 HG01952.hp2 HG02015.hp2 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02145.hp2 HG02647.hp2 HG02818.hp1 HG02818.hp2 HG02922.hp2 HG03195.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp2 HG03579.hp1 HG03669.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04199.hp2 HG04228.hp2 NA18939.hp2 NA18940.hp2 NA18946.hp1 NA18948.hp2 NA18953.hp1 NA18956.hp2 NA18969.hp2 NA18977.hp2 NA18983.hp1 NA18995.hp2 NA19006.hp1 NA19007.hp1 NA19011.hp1 NA19056.hp1 NA19080.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0020 a0001c0001t0036 a0001c0002t0006 a0001c0002t0008	a0001c0001t0001g0029 a0001c0001t0001g0061 a0001c0001t0001g0068 others(39): Show a0001c0001t0001g0029 a0001c0001t0001g0061 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0085 a0001c0001t0001g0130 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0255 a0001c0001t0001g0264 a0001c0001t0001g0302 a0001c0001t0001g0312 a0001c0001t0001g0315 a0001c0001t0002g0125 a0001c0001t0002g0144 a0001c0001t0002g0227 a0001c0001t0002g0282 a0001c0001t0003g0080 a0001c0001t0005g0001 a0001c0001t0005g0093 a0001c0001t0005g0107 a0001c0001t0005g0206 a0001c0001t0005g0219 a0001c0001t0005g0223 a0001c0001t0005g0249 a0001c0001t0005g0251 a0001c0001t0005g0261 a0001c0001t0005g0280 a0001c0001t0005g0306 a0001c0001t0007g0112 a0001c0001t0007g0207 a0001c0001t0011g0208 a0001c0001t0012g0157 a0001c0001t0012g0243 a0001c0001t0014g0176 a0001c0001t0014g0184 a0001c0001t0014g0195 a0001c0001t0020g0161 a0001c0001t0036g0236 a0001c0002t0006g0194 a0001c0002t0008g0154 a0001c0002t0008g0164	43	184	0.2337	7	c.112 others(26): Show c.112+12677_112+12678insAAAAAAC	SMIM31	ENSG00000248771.5	transcript	ENST00000507311.1	protein_coding	2/2			chr4	TogoVar
SMIM36_chr17_55444856_55516452	55500900	T T	TTTTATAA TTTTATAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02559.hp2 HG03139.hp1 HG02055.hp2 HG02559.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0010 a0001c0001t0004 a0001c0001t0010	a0001c0001t0004g0150 a0001c0001t0004g0152 a0001c0001t0010g0151 a0001c0001t0004g0150 a0001c0001t0004g0152 a0001c0001t0010g0151	3	203	0.0148	7	c.17 others(26): Show c.174+9978_*174+9979insTTATAAA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM36_chr17_55444856_55516452	55501422	A A	AATATATT AATATATT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01081.hp2 HG02027.hp2 others(34): Show HG00597.hp1 HG01081.hp2 HG02027.hp2 HG02040.hp1 HG02074.hp2 HG02129.hp2 HG02145.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02717.hp1 HG02895.hp1 HG02896.hp1 HG02970.hp2 HG03098.hp1 HG03139.hp2 HG03225.hp1 HG03453.hp2 HG03540.hp1 HG03704.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18941.hp2 NA18964.hp1 NA18979.hp1 NA19001.hp1 NA19003.hp2 NA19004.hp2 NA19006.hp1 NA19030.hp2 NA19058.hp1 NA19082.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0016 a0001c0003t0004	a0001c0001t0002g0234 a0001c0001t0002g0236 a0001c0001t0002g0237 others(34): Show a0001c0001t0002g0234 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0261 a0001c0001t0002g0281 a0001c0001t0002g0293 a0001c0001t0004g0220 a0001c0001t0004g0221 a0001c0001t0004g0226 a0001c0001t0004g0227 a0001c0001t0006g0248 a0001c0001t0006g0255 a0001c0001t0006g0265 a0001c0001t0006g0266 a0001c0001t0006g0280 a0001c0001t0010g0224 a0001c0001t0010g0225 a0001c0001t0010g0228 a0001c0001t0016g0231 a0001c0003t0004g0027 a0001c0003t0004g0028	37	186	0.1989	7	c.17 others(26): Show c.174+9450_*174+9456dupAATATAT	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM40_chr6_33318628_33334279	33324882	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00735.hp2 others(19): Show HG00099.hp1 HG00280.hp1 HG00735.hp2 HG01261.hp2 HG02056.hp2 HG02071.hp1 HG02109.hp1 HG02258.hp1 HG02896.hp1 HG02897.hp2 HG03225.hp1 HG03704.hp2 HG03710.hp2 HG04184.hp2 NA18950.hp2 NA18966.hp2 NA19004.hp2 NA19010.hp2 NA19011.hp2 NA19079.hp2 NA19083.hp2 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0001c0001t0001 a0001c0003t0001 a0002c0002t0001	a0001c0001t0001g0008 a0001c0001t0001g0021 a0001c0001t0001g0035 others(8): Show a0001c0001t0001g0008 a0001c0001t0001g0021 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0067 a0001c0001t0001g0076 a0001c0001t0001g0085 a0001c0001t0001g0091 a0001c0003t0001g0124 a0002c0002t0001g0029	22	68	0.3235	7	c.40 others(22): Show c.40-859_*40-853dupTTTTTTT	SMIM40	ENSG00000286920.2	transcript	ENST00000494082.3	protein_coding	1/2			chr6	TogoVar
SMIM46_chr19_14107324_14117476	14109965	A A	ATATATAT ATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG01169.hp2 HG03704.hp2 others(1): Show HG00639.hp1 HG01169.hp2 HG03704.hp2 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	4	175	0.0229	7	c.23 others(18): Show c.2358_*2359insATATATA	SMIM46	ENSG00000289762.1	transcript	ENST00000699221.1	protein_coding		2358		chr19	TogoVar
SMKR1_chr7_129497531_129517918	129499488	C C	CTTTTTTT CTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG02055.hp2 HG02818.hp2 others(7): Show HG00323.hp2 HG02055.hp2 HG02818.hp2 HG02886.hp2 HG02922.hp1 HG02965.hp1 HG03041.hp2 HG03471.hp1 HG03540.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0017 others(6): Show a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0032 a0001c0001t0001g0052 a0001c0001t0001g0059 a0001c0001t0001g0086 a0001c0001t0002g0085	10	44	0.2273	7	c.-33 others(18): Show c.-3337_-3336insTTTTTTT	SMKR1	ENSG00000240204.3	transcript	ENST00000462322.3	protein_coding		3042		chr7	TogoVar
SMKR1_chr7_129497531_129517918	129506859	C C	CTTTTCTT CTTTTCTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02451.hp1 HG02615.hp1 others(5): Show HG01099.hp2 HG02451.hp1 HG02615.hp1 HG02723.hp1 HG02896.hp2 HG02970.hp1 HG02976.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0051 a0001c0001t0001g0053 others(4): Show a0001c0001t0001g0025 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0091	8	420	0.0190	7	c.3+4 others(20): Show c.3+4037_3+4043dupCTTTTTT	SMKR1	ENSG00000240204.3	transcript	ENST00000462322.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr7	TogoVar
SMN2_chr5_70044669_70082595	70060727	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02071.hp1 HG02074.hp2 others(8): Show HG01192.hp1 HG02071.hp1 HG02074.hp2 HG03225.hp2 HG03239.hp2 HG03688.hp1 HG04199.hp1 HG04199.hp2 NA18967.hp2 NA19009.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0015 others(7): Show a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0037 a0001c0001t0001g0050 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0003t0001g0081 a0001c0003t0001g0087	11	27	0.4074	7	c.82- others(22): Show c.82-2678_82-2672dupTTTTTTT	SMN2	ENSG00000205571.15	transcript	ENST00000380743.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SMNDC1_chr10_110285730_110309920	110292923	A A	ACTGAAAC ACTGAAAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02630.hp1 HG02630.hp2 HG03139.hp1 others(1): Show HG02630.hp1 HG02630.hp2 HG03139.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0014 a0001c0001t0008g0060 a0001c0001t0008g0014 a0001c0001t0008g0060	4	390	0.0103	7	c.12 others(18): Show c.1220_*1226dupGTTTCAG	SMNDC1	ENSG00000119953.14	transcript	ENST00000369603.10	protein_coding	6/6	1226		chr10	TogoVar
SMOC2_chr6_168436184_168672992	168584519	A A	AATGGAAC AATGGAAC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02922.hp2 HG02970.hp2 others(1): Show HG02559.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0003 a0001c0002t0002 a0001c0004t0005 a0001c0001t0003 a0001c0002t0002 a0001c0004t0005	a0001c0001t0003g0169 a0001c0002t0002g0034 a0001c0002t0002g0037 others(1): Show a0001c0001t0003g0169 a0001c0002t0002g0034 a0001c0002t0002g0037 a0001c0004t0005g0049	4	178	0.0225	7	c.638 others(26): Show c.638-14297_638-14291dupTGGAACA	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168595198	G G	GCCTCACT GCCTCACT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01069.hp1 HG01256.hp2 others(23): Show HG00609.hp2 HG01069.hp1 HG01256.hp2 HG01361.hp1 HG01978.hp1 HG02083.hp1 HG02135.hp2 HG02735.hp1 HG03654.hp2 HG04204.hp2 HG04228.hp2 NA18612.hp2 NA18939.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18960.hp1 NA18983.hp1 NA18983.hp2 NA18990.hp1 NA19012.hp1 NA19068.hp1 NA19068.hp2 NA19079.hp1 NA19080.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0002t0002 a0001c0002t0007	a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0089 others(23): Show a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0089 a0001c0001t0001g0094 a0001c0001t0001g0115 a0001c0001t0001g0123 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0145 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0165 a0001c0001t0003g0085 a0001c0001t0003g0090 a0001c0001t0003g0109 a0001c0001t0003g0116 a0001c0001t0003g0120 a0001c0001t0003g0135 a0001c0001t0011g0119 a0001c0002t0002g0008 a0001c0002t0002g0012 a0001c0002t0002g0060 a0001c0002t0007g0016	26	140	0.1857	7	c.638 others(24): Show c.638-3620_638-3619insCCTCACT	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12			chr6	TogoVar
SMOX_chr20_4143828_4192727	4154386	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00408.hp2 others(122): Show HG00099.hp2 HG00140.hp2 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00597.hp2 HG00621.hp2 HG00639.hp2 HG01069.hp2 HG01070.hp2 HG01074.hp2 HG01255.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01516.hp2 HG01928.hp1 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp2 HG02129.hp2 HG02145.hp1 HG02155.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03098.hp1 HG03139.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03704.hp1 HG03831.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18906.hp1 NA18939.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18953.hp1 NA18954.hp2 NA18960.hp2 NA18964.hp2 NA18972.hp2 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18979.hp1 NA18980.hp2 NA18984.hp2 NA18991.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19003.hp2 NA19009.hp2 NA19030.hp2 NA19043.hp2 NA19055.hp2 NA19058.hp2 NA19060.hp2 NA19066.hp2 NA19067.hp1 NA19070.hp1 NA19080.hp1 NA19081.hp2 NA19082.hp1 NA19085.hp1 NA19086.hp1 NA20129.hp1 NA20300.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0008 a0001c0011 a0002c0017 a0004c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0003 a0001c0005t0001 a0001c0006t0001 a0001c0008t0001 a0001c0011t0001 a0002c0017t0002 a0004c0013t0001	a0001c0001t0001g0006 a0001c0001t0001g0023 a0001c0001t0001g0041 others(112): Show a0001c0001t0001g0006 a0001c0001t0001g0023 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0321 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0331 a0001c0001t0001g0347 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0358 a0001c0001t0001g0360 a0001c0001t0001g0370 a0001c0001t0001g0378 a0001c0001t0001g0379 a0001c0001t0001g0380 a0001c0001t0001g0381 a0001c0001t0001g0383 a0001c0001t0001g0385 a0001c0001t0001g0386 a0001c0001t0001g0390 a0001c0001t0001g0391 a0001c0001t0001g0393 a0001c0001t0002g0324 a0001c0001t0006g0372 a0001c0002t0001g0003 a0001c0002t0001g0012 a0001c0002t0001g0021 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0118 a0001c0002t0001g0120 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0141 a0001c0002t0001g0143 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0190 a0001c0002t0001g0319 a0001c0002t0001g0320 a0001c0002t0001g0323 a0001c0002t0001g0332 a0001c0002t0001g0334 a0001c0002t0001g0350 a0001c0002t0001g0363 a0001c0002t0001g0367 a0001c0002t0001g0368 a0001c0002t0001g0369 a0001c0002t0001g0371 a0001c0002t0001g0375 a0001c0002t0001g0376 a0001c0002t0001g0377 a0001c0002t0001g0389 a0001c0002t0002g0142 a0001c0002t0002g0325 a0001c0002t0002g0335 a0001c0002t0002g0355 a0001c0003t0001g0007 a0001c0003t0001g0022 a0001c0003t0001g0117 a0001c0003t0001g0122 a0001c0003t0001g0126 a0001c0003t0001g0128 a0001c0003t0001g0131 a0001c0003t0001g0132 a0001c0003t0001g0134 a0001c0003t0001g0136 a0001c0003t0001g0137 a0001c0003t0001g0146 a0001c0003t0001g0147 a0001c0003t0001g0309 a0001c0003t0001g0310 a0001c0003t0001g0318 a0001c0003t0001g0333 a0001c0003t0001g0348 a0001c0003t0001g0356 a0001c0003t0001g0364 a0001c0003t0001g0365 a0001c0003t0001g0373 a0001c0003t0001g0374 a0001c0003t0001g0382 a0001c0003t0001g0384 a0001c0003t0001g0387 a0001c0003t0001g0388 a0001c0003t0001g0394 a0001c0003t0003g0329 a0001c0005t0001g0328 a0001c0005t0001g0330 a0001c0006t0001g0336 a0001c0006t0001g0349 a0001c0006t0001g0353 a0001c0006t0001g0354 a0001c0006t0001g0357 a0001c0008t0001g0038 a0001c0011t0001g0392 a0002c0017t0002g0322 a0004c0013t0001g0024	125	369	0.3388	7	c.-27 others(24): Show c.-27+5410_-27+5416dupTTTTTTT	SMOX	ENSG00000088826.18	transcript	ENST00000305958.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
SMO_chr7_129183633_129218545	129193785	A A	AAAAAAAT AAAAAAAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02258.hp2 HG02630.hp2 others(4): Show HG02145.hp2 HG02258.hp2 HG02630.hp2 HG02896.hp1 HG03209.hp1 HG03209.hp2 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0002 a0001c0002t0003 others(1): Show a0001c0001t0006 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004	a0001c0001t0006g0034 a0001c0002t0002g0003 a0001c0002t0003g0018 others(1): Show a0001c0001t0006g0034 a0001c0002t0002g0003 a0001c0002t0003g0018 a0001c0002t0004g0005	7	234	0.0299	7	c.331 others(24): Show c.331+4304_331+4305insAAAAATA	SMO	ENSG00000128602.11	transcript	ENST00000249373.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
SMO_chr7_129183633_129218545	129193785	A A	AAAAATAT AAAAATAT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG03139.hp1 HG03471.hp2 others(5): Show HG02135.hp2 HG03139.hp1 HG03471.hp2 NA19012.hp2 NA19070.hp2 NA19079.hp1 NA19086.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0007 a0001c0002t0002 others(3): Show a0001c0001t0001 a0001c0001t0007 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0004t0001	a0001c0001t0001g0009 a0001c0001t0007g0053 a0001c0002t0002g0157 others(4): Show a0001c0001t0001g0009 a0001c0001t0007g0053 a0001c0002t0002g0157 a0001c0002t0002g0196 a0001c0002t0003g0018 a0001c0002t0005g0003 a0001c0004t0001g0151	8	235	0.0340	7	c.331 others(24): Show c.331+4304_331+4305insAAATATA	SMO	ENSG00000128602.11	transcript	ENST00000249373.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
SMPD3_chr16_68353327_68453508	68392835	G G	GAAAAAAA GAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00408.hp1 others(105): Show HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00558.hp2 HG00733.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp2 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp2 HG02132.hp2 HG02145.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp2 HG02602.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp2 HG02809.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp2 HG03710.hp2 HG03927.hp1 HG03927.hp2 HG04199.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18943.hp2 NA18950.hp1 NA18952.hp2 NA18954.hp1 NA18956.hp1 NA18966.hp1 NA18966.hp2 NA18983.hp1 NA18983.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp2 NA19004.hp2 NA19007.hp2 NA19043.hp1 NA19043.hp2 NA19060.hp2 NA19065.hp2 NA19091.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0006 a0008 a0009	a0001c0001 a0001c0002 a0001c0004 others(7): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0002c0003 a0003c0011 a0006c0015 a0008c0010 a0009c0014	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(21): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0038 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0008 a0001c0002t0026 a0001c0004t0001 a0001c0005t0001 a0001c0006t0012 a0001c0006t0017 a0002c0003t0011 a0002c0003t0025 a0003c0011t0001 a0006c0015t0004 a0008c0010t0001 a0009c0014t0001	a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0014 others(102): Show a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0130 a0001c0001t0001g0139 a0001c0001t0001g0149 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0004g0019 a0001c0001t0004g0041 a0001c0001t0004g0042 a0001c0001t0004g0043 a0001c0001t0004g0044 a0001c0001t0004g0106 a0001c0001t0004g0151 a0001c0001t0007g0099 a0001c0001t0007g0100 a0001c0001t0007g0103 a0001c0001t0007g0107 a0001c0001t0007g0119 a0001c0001t0007g0122 a0001c0001t0010g0166 a0001c0001t0010g0185 a0001c0001t0018g0200 a0001c0001t0018g0201 a0001c0001t0019g0145 a0001c0001t0020g0170 a0001c0001t0021g0167 a0001c0001t0038g0202 a0001c0002t0002g0105 a0001c0002t0002g0154 a0001c0002t0003g0003 a0001c0002t0003g0006 a0001c0002t0003g0008 a0001c0002t0003g0062 a0001c0002t0003g0068 a0001c0002t0003g0128 a0001c0002t0003g0138 a0001c0002t0003g0141 a0001c0002t0003g0147 a0001c0002t0006g0195 a0001c0002t0008g0148 a0001c0002t0026g0120 a0001c0004t0001g0001 a0001c0004t0001g0015 a0001c0005t0001g0058 a0001c0005t0001g0110 a0001c0005t0001g0111 a0001c0006t0012g0093 a0001c0006t0017g0198 a0002c0003t0011g0033 a0002c0003t0011g0134 a0002c0003t0025g0048 a0003c0011t0001g0171 a0006c0015t0004g0098 a0008c0010t0001g0173 a0009c0014t0001g0178	108	139	0.7770	7	c.-26 others(26): Show c.-268-6183_-268-6177dupTTTTTTT	SMPD3	ENSG00000103056.12	transcript	ENST00000219334.10	protein_coding	1/8			chr16	TogoVar
SMS_chrX_21935709_21999837	21965584	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp1 others(88): Show HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00735.hp1 HG01070.hp2 HG01074.hp1 HG01081.hp1 HG01109.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01261.hp1 HG01433.hp1 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01981.hp2 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02165.hp2 HG02257.hp1 HG02273.hp1 HG02486.hp1 HG02523.hp2 HG02615.hp1 HG02622.hp1 HG02723.hp1 HG02886.hp1 HG02886.hp2 HG02976.hp2 HG03098.hp1 HG03195.hp2 HG03491.hp2 HG03492.hp1 HG03579.hp1 HG03704.hp1 HG03831.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp2 NA18942.hp1 NA18951.hp2 NA18955.hp1 NA18961.hp1 NA18970.hp1 NA18971.hp1 NA18972.hp2 NA18973.hp2 NA18978.hp1 NA18981.hp2 NA18988.hp1 NA18997.hp1 NA18999.hp1 NA18999.hp2 NA19002.hp2 NA19005.hp1 NA19010.hp2 NA19057.hp1 NA19060.hp1 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19075.hp1 NA19077.hp2 NA19078.hp2 NA19080.hp1 NA19080.hp2 NA19084.hp1 NA19088.hp1 NA19091.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0002c0004t0001	a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0107 others(88): Show a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0107 a0001c0001t0001g0120 a0001c0001t0001g0148 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0002g0113 a0001c0001t0002g0130 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0169 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0269 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0003g0007 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0138 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0215 a0001c0001t0003g0261 a0001c0001t0003g0262 a0001c0001t0003g0267 a0001c0001t0003g0270 a0001c0001t0003g0271 a0001c0001t0004g0063 a0001c0001t0004g0064 a0001c0001t0004g0065 a0001c0001t0004g0068 a0001c0001t0004g0069 a0001c0001t0004g0070 a0001c0001t0004g0071 a0001c0001t0004g0073 a0001c0001t0004g0076 a0001c0001t0004g0104 a0001c0001t0004g0105 a0001c0001t0005g0137 a0001c0001t0005g0264 a0001c0001t0005g0265 a0001c0001t0005g0266 a0001c0001t0005g0268 a0001c0001t0005g0274 a0001c0001t0005g0275 a0001c0001t0005g0276 a0001c0001t0005g0280 a0001c0001t0005g0281 a0001c0001t0005g0282 a0001c0001t0005g0283 a0001c0001t0005g0284 a0001c0001t0005g0285 a0001c0001t0005g0286 a0001c0001t0006g0039 a0001c0001t0006g0045 a0001c0001t0006g0085 a0001c0001t0006g0088 a0001c0001t0006g0146 a0002c0004t0001g0231	91	92	0.9891	7	c.50- others(22): Show c.50-1601_50-1595dupAAAAAAA	SMS	ENSG00000102172.16	transcript	ENST00000404933.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
SMS_chrX_21935709_21999837	21980429	A A	AAAAAAAT AAAAAAAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00408.hp1 others(91): Show HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01168.hp2 HG01192.hp1 HG01255.hp1 HG01258.hp1 HG01361.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02155.hp1 HG02165.hp2 HG02273.hp1 HG02293.hp2 HG02523.hp2 HG02602.hp1 HG02698.hp1 HG03041.hp1 HG03239.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03654.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp2 HG04199.hp1 NA18612.hp1 NA18747.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18948.hp1 NA18953.hp1 NA18959.hp1 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18971.hp1 NA18977.hp1 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18986.hp1 NA18989.hp1 NA18992.hp1 NA18997.hp2 NA19000.hp1 NA19001.hp2 NA19002.hp1 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19011.hp1 NA19055.hp1 NA19057.hp1 NA19062.hp1 NA19065.hp1 NA19068.hp1 NA19070.hp1 NA19074.hp2 NA19078.hp2 NA19079.hp1 NA19082.hp1 NA19088.hp1 NA20300.hp1 NA20752.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0014 others(89): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0142 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0216 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0258 a0001c0001t0001g0287 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0002g0140 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0189 a0001c0001t0002g0191 a0001c0001t0002g0214 a0001c0001t0002g0221 a0001c0001t0002g0260	94	195	0.4821	7	c.750 others(24): Show c.750+1464_750+1465insAAAAATA	SMS	ENSG00000102172.16	transcript	ENST00000404933.7	protein_coding	7/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
SMS_chrX_21935709_21999837	21980429	A A	AAAAATAT AAAAATAT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02015.hp1 HG02523.hp1 others(4): Show HG01358.hp1 HG02015.hp1 HG02523.hp1 HG03017.hp1 HG03239.hp2 HG03491.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0038 a0001c0001t0001g0042 others(4): Show a0001c0001t0001g0032 a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0049 a0001c0001t0001g0053 a0001c0001t0001g0083 a0001c0001t0001g0246	7	108	0.0648	7	c.750 others(24): Show c.750+1464_750+1465insAAATATA	SMS	ENSG00000102172.16	transcript	ENST00000404933.7	protein_coding	7/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
SMTN_chr22_31076318_31109624	31102703	G G	GCCTGAGC GCCTGAGC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01175.hp1 HG02615.hp1 others(3): Show HG00733.hp2 HG01175.hp1 HG02615.hp1 HG02738.hp2 HG03942.hp2 NA20752.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0007 a0002c0002 a0003c0007	a0002c0002t0003 a0003c0007t0003 a0002c0002t0003 a0003c0007t0003	a0002c0002t0003g0162 a0003c0007t0003g0029 a0003c0007t0003g0174 others(1): Show a0002c0002t0003g0162 a0003c0007t0003g0029 a0003c0007t0003g0174 a0003c0007t0003g0176	6	360	0.0167	7	c.21 others(24): Show c.21-1596_*21-1590dupTGAGCCC	SMTN	ENSG00000183963.19	transcript	ENST00000333137.12	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr22	TogoVar
SMURF2_chr17_64537282_64667307	64550757	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01070.hp2 HG01071.hp2 others(22): Show HG00558.hp2 HG01070.hp2 HG01071.hp2 HG01192.hp2 HG01243.hp2 HG01261.hp1 HG01496.hp2 HG02015.hp1 HG02129.hp2 HG02257.hp1 HG02293.hp2 HG03453.hp2 HG03490.hp2 HG03831.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp2 NA18956.hp2 NA18986.hp1 NA18992.hp1 NA19058.hp1 NA19065.hp2 NA19085.hp2 NA20300.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0025 a0001c0005t0003	a0001c0001t0001g0131 a0001c0001t0002g0030 a0001c0001t0002g0111 others(22): Show a0001c0001t0001g0131 a0001c0001t0002g0030 a0001c0001t0002g0111 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0128 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0003g0027 a0001c0001t0003g0112 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0002t0025g0130 a0001c0005t0003g0113	25	152	0.1645	7	c.186 others(24): Show c.1869+820_1869+826dupTTTTTTT	SMURF2	ENSG00000108854.16	transcript	ENST00000262435.14	protein_coding	16/18			chr17	TogoVar
SMURF2_chr17_64537282_64667307	64566561	G G	GTTTTTTT GTTTTTTT	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG02486.hp1 HG02615.hp2 others(6): Show HG01258.hp1 HG02486.hp1 HG02615.hp2 HG02976.hp1 HG02976.hp2 HG03195.hp2 NA19030.hp1 NA20300.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 others(5): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0001t0014 a0001c0001t0027 a0001c0001t0029 a0001c0001t0031 a0001c0003t0002	a0001c0001t0001g0075 a0001c0001t0005g0163 a0001c0001t0009g0173 others(6): Show a0001c0001t0001g0075 a0001c0001t0005g0163 a0001c0001t0009g0173 a0001c0001t0014g0153 a0001c0001t0027g0144 a0001c0001t0029g0149 a0001c0001t0031g0158 a0001c0003t0002g0138 a0001c0003t0002g0139	9	50	0.1800	7	c.101 others(26): Show c.1017-3602_1017-3596dupAAAAAAA	SMURF2	ENSG00000108854.16	transcript	ENST00000262435.14	protein_coding	10/18			chr17	TogoVar
SMURF2_chr17_64537282_64667307	64650332	G G	GGTTTTTT GGTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01884.hp2 HG02109.hp2 others(19): Show HG01099.hp2 HG01884.hp2 HG02109.hp2 HG02486.hp2 HG02615.hp2 HG02622.hp2 HG02818.hp1 HG02922.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03195.hp2 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp2 NA18906.hp1 NA20300.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 others(4): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0027 a0001c0003t0002 a0001c0003t0003	a0001c0001t0005g0151 a0001c0001t0005g0152 a0001c0001t0005g0160 others(19): Show a0001c0001t0005g0151 a0001c0001t0005g0152 a0001c0001t0005g0160 a0001c0001t0005g0161 a0001c0001t0005g0162 a0001c0001t0005g0163 a0001c0001t0005g0167 a0001c0001t0006g0164 a0001c0001t0006g0165 a0001c0001t0008g0035 a0001c0001t0008g0042 a0001c0001t0008g0043 a0001c0001t0009g0159 a0001c0001t0009g0166 a0001c0001t0009g0173 a0001c0001t0027g0144 a0001c0003t0002g0138 a0001c0003t0002g0139 a0001c0003t0002g0140 a0001c0003t0002g0142 a0001c0003t0003g0141 a0001c0003t0003g0143	22	172	0.1279	7	c.52+ others(24): Show c.52+11490_52+11496dupAAAAAAC	SMURF2	ENSG00000108854.16	transcript	ENST00000262435.14	protein_coding	1/18			chr17	TogoVar
SMYD2_chr1_214276159_214342131	214304558	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01175.hp1 HG01346.hp1 others(8): Show HG00738.hp2 HG01175.hp1 HG01346.hp1 HG02056.hp1 HG03098.hp1 HG04184.hp2 NA18972.hp1 NA18975.hp2 NA18994.hp1 NA19010.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0233 others(8): Show a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0245 a0001c0001t0001g0248 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0258 a0001c0001t0001g0308 a0001c0001t0002g0170	11	141	0.0780	7	c.174 others(22): Show c.174-611_174-605dupAAAAAAA	SMYD2	ENSG00000143499.14	transcript	ENST00000366957.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
SMYD3_chr1_245744347_246512279	245806916	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02015.hp1 HG02132.hp2 others(5): Show HG01952.hp1 HG02015.hp1 HG02132.hp2 HG02165.hp1 HG02273.hp1 HG02602.hp1 HG03017.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0011 others(1): Show a0001c0001 a0001c0002 a0001c0011 a0001c0014	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0011t0002 a0001c0014t0002	a0001c0001t0001g0029 a0001c0001t0001g0039 a0001c0001t0001g0088 others(5): Show a0001c0001t0001g0029 a0001c0001t0001g0039 a0001c0001t0001g0088 a0001c0001t0002g0033 a0001c0001t0002g0090 a0001c0002t0002g0048 a0001c0011t0002g0018 a0001c0014t0002g0055	8	45	0.1778	7	c.107 others(28): Show c.1077-42774_1077-42768dupTTTTTTT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	10/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245896389	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02109.hp1 HG02145.hp2 others(6): Show HG02027.hp2 HG02109.hp1 HG02145.hp2 HG02280.hp1 HG02559.hp2 HG02647.hp1 HG02886.hp2 HG03195.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0002c0003 others(2): Show a0001c0001 a0001c0009 a0002c0003 a0002c0004 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0009t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0009t0001 a0002c0003t0001 a0002c0004t0001 a0002c0007t0004	a0001c0001t0001g0003 a0001c0001t0001g0064 a0001c0001t0001g0080 others(6): Show a0001c0001t0001g0003 a0001c0001t0001g0064 a0001c0001t0001g0080 a0001c0001t0002g0020 a0001c0001t0002g0069 a0001c0009t0001g0002 a0002c0003t0001g0108 a0002c0004t0001g0107 a0002c0007t0004g0111	9	12	0.7500	7	c.813 others(26): Show c.813+19134_813+19140dupTTTTTTT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	8/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246036720	A A	ATTTTTTT ATTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00621.hp1 HG00733.hp2 others(15): Show HG00408.hp2 HG00621.hp1 HG00733.hp2 HG01109.hp1 HG01243.hp1 HG01433.hp2 HG02015.hp1 HG02071.hp2 HG02257.hp1 HG02451.hp2 HG02717.hp1 HG03098.hp2 HG03130.hp1 HG03491.hp1 HG03831.hp2 NA18747.hp1 NA19000.hp2 NA19240.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0006 others(4): Show a0001c0001 a0001c0002 a0001c0006 a0002c0007 a0002c0008 a0002c0017 a0003c0015	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0006t0001 a0002c0007t0001 a0002c0008t0001 a0002c0008t0002 a0002c0017t0001 a0003c0015t0002	a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0080 others(15): Show a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0080 a0001c0001t0002g0038 a0001c0001t0002g0046 a0001c0001t0002g0078 a0001c0001t0002g0085 a0001c0002t0001g0034 a0001c0002t0001g0070 a0001c0006t0001g0071 a0002c0007t0001g0135 a0002c0007t0001g0140 a0002c0007t0001g0141 a0002c0008t0001g0112 a0002c0008t0001g0145 a0002c0008t0002g0142 a0002c0017t0001g0139 a0003c0015t0002g0094	18	70	0.2571	7	c.532 others(28): Show c.532-106790_532-106784dupAAAAAAA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246054873	T T	TAAAAAAA TAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp2 HG00621.hp2 others(8): Show HG00544.hp2 HG00597.hp2 HG00621.hp2 HG02015.hp2 HG02027.hp1 HG02165.hp2 HG02258.hp1 HG02602.hp1 HG03017.hp1 NA18965.hp2 NA19086.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0011 a0001c0014 others(2): Show a0001c0001 a0001c0011 a0001c0014 a0002c0003 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0011t0002 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0011t0002 a0001c0014t0002 a0002c0003t0001 a0002c0005t0002	a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0053 others(8): Show a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0002g0033 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0011t0002g0018 a0001c0014t0002g0055 a0002c0003t0001g0100 a0002c0005t0002g0133	11	64	0.1719	7	c.532 others(28): Show c.532-124943_532-124937dupTTTTTTT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246248631	C C	CTTGTTTT CTTGTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00738.hp1 HG01952.hp1 others(7): Show HG00140.hp2 HG00738.hp1 HG01952.hp1 HG02273.hp2 HG03579.hp1 HG04115.hp2 NA18965.hp2 NA18971.hp2 NA19000.hp1 NA19086.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0014 others(1): Show a0001c0001 a0001c0002 a0001c0014 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0014t0002 a0002c0003t0001	a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0084 others(7): Show a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0002t0001g0017 a0001c0002t0001g0026 a0001c0002t0002g0061 a0001c0014t0002g0055 a0002c0003t0001g0101 a0002c0003t0001g0148	10	106	0.0943	7	c.531 others(26): Show c.531+78569_531+78570insAAAACAA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246248808	A A	ATTTTTTT ATTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp1 HG02257.hp1 others(6): Show HG01109.hp1 HG01243.hp1 HG02257.hp1 HG02451.hp2 HG02559.hp2 HG02717.hp1 HG03130.hp1 NA18522.hp1 NA18963.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0007 a0002c0008 others(1): Show a0001c0002 a0002c0007 a0002c0008 a0002c0017	a0001c0002t0001 a0002c0007t0001 a0002c0007t0004 others(3): Show a0001c0002t0001 a0002c0007t0001 a0002c0007t0004 a0002c0008t0001 a0002c0008t0002 a0002c0017t0001	a0001c0002t0001g0022 a0002c0007t0001g0135 a0002c0007t0001g0137 others(6): Show a0001c0002t0001g0022 a0002c0007t0001g0135 a0002c0007t0001g0137 a0002c0007t0001g0140 a0002c0007t0004g0111 a0002c0008t0001g0112 a0002c0008t0001g0145 a0002c0008t0002g0142 a0002c0017t0001g0139	9	70	0.1286	7	c.531 others(26): Show c.531+78386_531+78392dupAAAAAAA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246273141	T T	TTTTTTTC TTTTTTTC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01109.hp1 HG01243.hp1 others(6): Show HG00733.hp2 HG01109.hp1 HG01243.hp1 HG02257.hp1 HG02451.hp2 HG02559.hp2 HG02717.hp1 HG03130.hp1 NA18522.hp1	a0002 a0002	a0002c0007 a0002c0008 a0002c0017 a0002c0007 a0002c0008 a0002c0017	a0002c0007t0001 a0002c0007t0004 a0002c0008t0001 others(2): Show a0002c0007t0001 a0002c0007t0004 a0002c0008t0001 a0002c0008t0002 a0002c0017t0001	a0002c0007t0001g0135 a0002c0007t0001g0137 a0002c0007t0001g0140 others(6): Show a0002c0007t0001g0135 a0002c0007t0001g0137 a0002c0007t0001g0140 a0002c0007t0001g0141 a0002c0007t0004g0111 a0002c0008t0001g0112 a0002c0008t0001g0145 a0002c0008t0002g0142 a0002c0017t0001g0139	9	150	0.0600	7	c.531 others(26): Show c.531+54059_531+54060insGAAAAAA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246500052	T T	TACGTACC TACGTACC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00408.hp2 others(96): Show HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01175.hp1 HG01243.hp2 HG01496.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp2 HG02647.hp2 HG02717.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02922.hp2 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03491.hp1 HG03491.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04115.hp2 NA18747.hp1 NA18747.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18971.hp1 NA18984.hp1 NA18984.hp2 NA19000.hp1 NA19000.hp2 NA19030.hp1 NA19030.hp2 NA19057.hp1 NA19057.hp2 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0006 others(12): Show a0001c0001 a0001c0002 a0001c0006 a0001c0011 a0001c0012 a0001c0014 a0002c0003 a0002c0004 a0002c0005 a0002c0007 a0002c0008 a0002c0017 a0003c0015 a0004c0010 a0005c0013	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0006t0001 a0001c0011t0002 a0001c0012t0002 a0001c0014t0002 a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 a0002c0004t0002 a0002c0005t0001 a0002c0007t0001 a0002c0007t0004 a0002c0008t0001 a0002c0008t0002 a0002c0017t0001 a0003c0015t0002 a0004c0010t0001 a0005c0013t0002	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(96): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0002g0004 a0001c0001t0002g0016 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0028 a0001c0001t0002g0030 a0001c0001t0002g0033 a0001c0001t0002g0038 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0046 a0001c0001t0002g0049 a0001c0001t0002g0051 a0001c0001t0002g0059 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0002t0001g0009 a0001c0002t0001g0012 a0001c0002t0001g0015 a0001c0002t0001g0017 a0001c0002t0001g0022 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0034 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0056 a0001c0002t0001g0062 a0001c0002t0001g0079 a0001c0002t0001g0086 a0001c0002t0002g0010 a0001c0002t0002g0024 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0048 a0001c0002t0002g0052 a0001c0002t0002g0061 a0001c0002t0002g0083 a0001c0006t0001g0014 a0001c0006t0001g0060 a0001c0011t0002g0018 a0001c0012t0002g0057 a0001c0014t0002g0055 a0002c0003t0001g0096 a0002c0003t0001g0114 a0002c0003t0001g0118 a0002c0003t0001g0121 a0002c0003t0001g0136 a0002c0003t0002g0095 a0002c0003t0002g0120 a0002c0003t0002g0122 a0002c0003t0002g0124 a0002c0003t0002g0147 a0002c0004t0001g0117 a0002c0004t0001g0143 a0002c0004t0002g0116 a0002c0005t0001g0113 a0002c0005t0001g0115 a0002c0005t0001g0119 a0002c0005t0001g0123 a0002c0007t0001g0140 a0002c0007t0001g0141 a0002c0007t0004g0111 a0002c0008t0001g0112 a0002c0008t0002g0142 a0002c0017t0001g0139 a0003c0015t0002g0094 a0004c0010t0001g0077 a0005c0013t0002g0050	99	150	0.6600	7	c.164 others(24): Show c.164+7001_164+7002insGGTACGT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SMYD4_chr17_1774485_1834902	1794105	A A	ATATATTT ATATATTT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01433.hp1 HG01515.hp1 others(4): Show HG01257.hp1 HG01433.hp1 HG01515.hp1 HG02738.hp1 HG03239.hp1 NA19064.hp1 NA20752.hp2	a0002 a0015 a0002 a0015	a0002c0002 a0015c0019 a0002c0002 a0015c0019	a0002c0002t0002 a0015c0019t0009 a0002c0002t0002 a0015c0019t0009	a0002c0002t0002g0292 a0002c0002t0002g0300 a0002c0002t0002g0332 others(4): Show a0002c0002t0002g0292 a0002c0002t0002g0300 a0002c0002t0002g0332 a0002c0002t0002g0358 a0015c0019t0009g0282 a0015c0019t0009g0284 a0015c0019t0009g0291	7	85	0.0824	7	c.153 others(26): Show c.1537+5751_1537+5752insAAATATA	SMYD4	ENSG00000186532.12	transcript	ENST00000305513.12	protein_coding	5/10			chr17	TogoVar
SMYD4_chr17_1774485_1834902	1795747	G G	GTTTTTTT GTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00544.hp1 others(51): Show HG00280.hp1 HG00408.hp2 HG00544.hp1 HG00597.hp2 HG01099.hp1 HG01123.hp1 HG01169.hp2 HG01243.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01433.hp2 HG01952.hp2 HG01975.hp1 HG02055.hp1 HG02056.hp1 HG02080.hp1 HG02135.hp2 HG02155.hp2 HG02258.hp1 HG02572.hp2 HG02622.hp2 HG02818.hp1 HG02896.hp2 HG02897.hp1 HG02970.hp1 HG03017.hp2 HG03209.hp1 HG03486.hp1 HG03486.hp2 HG03831.hp2 NA18939.hp1 NA18940.hp1 NA18942.hp1 NA18944.hp2 NA18945.hp1 NA18952.hp2 NA18959.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp2 NA18970.hp1 NA18977.hp2 NA18984.hp1 NA18998.hp1 NA19000.hp2 NA19007.hp2 NA19079.hp1 NA19080.hp2 NA19084.hp2 NA19087.hp1 NA19088.hp1 NA20752.hp1	a0003 a0007 a0011 others(4): Show a0003 a0007 a0011 a0012 a0013 a0019 a0029	a0003c0003 a0007c0006 a0011c0013 others(4): Show a0003c0003 a0007c0006 a0011c0013 a0012c0012 a0013c0011 a0019c0025 a0029c0033	a0003c0003t0004 a0003c0003t0024 a0003c0003t0027 others(10): Show a0003c0003t0004 a0003c0003t0024 a0003c0003t0027 a0003c0003t0029 a0007c0006t0005 a0011c0013t0002 a0011c0013t0012 a0011c0013t0015 a0012c0012t0007 a0013c0011t0004 a0013c0011t0018 a0019c0025t0004 a0029c0033t0005	a0003c0003t0004g0002 a0003c0003t0004g0039 a0003c0003t0004g0042 others(46): Show a0003c0003t0004g0002 a0003c0003t0004g0039 a0003c0003t0004g0042 a0003c0003t0004g0044 a0003c0003t0004g0047 a0003c0003t0004g0048 a0003c0003t0004g0049 a0003c0003t0004g0051 a0003c0003t0004g0054 a0003c0003t0004g0062 a0003c0003t0004g0063 a0003c0003t0004g0068 a0003c0003t0004g0070 a0003c0003t0004g0071 a0003c0003t0004g0073 a0003c0003t0004g0074 a0003c0003t0004g0075 a0003c0003t0004g0077 a0003c0003t0004g0078 a0003c0003t0024g0374 a0003c0003t0024g0375 a0003c0003t0027g0040 a0003c0003t0029g0045 a0007c0006t0005g0123 a0007c0006t0005g0138 a0007c0006t0005g0139 a0007c0006t0005g0140 a0007c0006t0005g0157 a0007c0006t0005g0222 a0007c0006t0005g0236 a0011c0013t0002g0353 a0011c0013t0012g0024 a0011c0013t0012g0055 a0011c0013t0012g0059 a0011c0013t0012g0061 a0011c0013t0015g0028 a0011c0013t0015g0052 a0011c0013t0015g0053 a0012c0012t0007g0004 a0012c0012t0007g0005 a0012c0012t0007g0031 a0012c0012t0007g0072 a0012c0012t0007g0076 a0013c0011t0004g0003 a0013c0011t0004g0060 a0013c0011t0018g0035 a0013c0011t0018g0036 a0019c0025t0004g0025 a0029c0033t0005g0103	54	191	0.2827	7	c.153 others(26): Show c.1537+4103_1537+4109dupAAAAAAA	SMYD4	ENSG00000186532.12	transcript	ENST00000305513.12	protein_coding	5/10			chr17	TogoVar
SNAI3_chr16_88672688_88691507	88679775	A A	AAAAAAAG AAAAAAAG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00544.hp2 others(36): Show HG00323.hp2 HG00408.hp1 HG00544.hp2 HG00639.hp2 HG00741.hp1 HG01070.hp2 HG01081.hp2 HG01109.hp1 HG01123.hp1 HG01175.hp1 HG01192.hp2 HG01255.hp2 HG01257.hp2 HG01361.hp1 HG02055.hp1 HG02129.hp1 HG02257.hp2 HG02486.hp1 HG02523.hp2 HG02698.hp2 HG03041.hp2 HG03490.hp1 HG03540.hp1 HG03654.hp1 HG03669.hp1 HG03704.hp2 HG03834.hp2 HG03942.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18951.hp1 NA18969.hp1 NA18977.hp2 NA19068.hp1 NA19077.hp2 NA19084.hp1 NA19084.hp2 NA19091.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0012 a0001c0001 a0008c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0018 a0008c0012t0003	a0001c0001t0001g0166 a0001c0001t0001g0172 a0001c0001t0001g0177 others(31): Show a0001c0001t0001g0166 a0001c0001t0001g0172 a0001c0001t0001g0177 a0001c0001t0001g0194 a0001c0001t0001g0201 a0001c0001t0002g0124 a0001c0001t0002g0131 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0028 a0001c0001t0003g0067 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0214 a0001c0001t0008g0149 a0001c0001t0018g0252 a0008c0012t0003g0096	39	64	0.6094	7	c.698 others(24): Show c.698-1147_698-1146insCTTTTTT	SNAI3	ENSG00000185669.6	transcript	ENST00000332281.6	protein_coding	2/2			chr16	TogoVar
SNAP23_chr15_42490634_42538058	42525451	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00621.hp2 HG00735.hp1 others(20): Show HG00140.hp2 HG00621.hp2 HG00735.hp1 HG01069.hp1 HG01167.hp1 HG01169.hp2 HG01192.hp1 HG01361.hp2 HG01516.hp2 HG01978.hp2 HG01981.hp2 HG02109.hp1 HG02602.hp2 HG03098.hp1 HG03130.hp2 HG03453.hp2 HG03831.hp2 HG03942.hp2 HG04199.hp1 HG04228.hp1 HG04228.hp2 NA18969.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0002 a0001c0002t0004	a0001c0001t0001g0004 a0001c0001t0001g0025 a0001c0001t0001g0027 others(15): Show a0001c0001t0001g0004 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0133 a0001c0001t0001g0155 a0001c0001t0001g0162 a0001c0001t0001g0176 a0001c0001t0005g0205 a0001c0002t0002g0111 a0001c0002t0002g0112 a0001c0002t0002g0124 a0001c0002t0002g0199 a0001c0002t0002g0200 a0001c0002t0002g0209 a0001c0002t0002g0221 a0001c0002t0004g0120 a0001c0002t0004g0201 a0001c0002t0004g0212	23	90	0.2556	7	c.267 others(24): Show c.267-2787_267-2781dupTTTTTTT	SNAP23	ENSG00000092531.10	transcript	ENST00000249647.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr15	TogoVar
SNAP91_chr6_83547885_83714101	83611823	A A	AGTAGCTG AGTAGCTG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03098.hp1 HG03453.hp2 HG02615.hp2 HG03098.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0004t0001g0123 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0004t0001g0123	3	364	0.0082	7	c.885 others(24): Show c.885-1153_885-1147dupCAGCTAC	SNAP91	ENSG00000065609.15	transcript	ENST00000369694.7	protein_coding	11/29			chr6	TogoVar
SNAPC1_chr14_61757420_61801428	61797175	A A	ATTTTTTT ATTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG00735.hp2 HG00741.hp1 others(25): Show HG00673.hp1 HG00735.hp2 HG00741.hp1 HG01106.hp2 HG01175.hp1 HG01515.hp2 HG01517.hp2 HG02027.hp2 HG02135.hp1 HG02258.hp2 HG02572.hp1 HG03098.hp2 HG03486.hp1 HG03579.hp1 HG03831.hp1 HG03942.hp2 NA18955.hp1 NA18959.hp2 NA18979.hp2 NA18995.hp1 NA19078.hp2 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 a0001c0001t0019 a0001c0001t0025 a0001c0001t0032	a0001c0001t0002g0017 a0001c0001t0002g0097 a0001c0001t0002g0132 others(25): Show a0001c0001t0002g0017 a0001c0001t0002g0097 a0001c0001t0002g0132 a0001c0001t0002g0142 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0148 a0001c0001t0002g0153 a0001c0001t0002g0156 a0001c0001t0003g0098 a0001c0001t0003g0102 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0133 a0001c0001t0003g0135 a0001c0001t0003g0136 a0001c0001t0003g0160 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0003g0167 a0001c0001t0007g0166 a0001c0001t0010g0059 a0001c0001t0010g0065 a0001c0001t0019g0093 a0001c0001t0025g0105 a0001c0001t0032g0186	28	205	0.1366	7	c.21 others(18): Show c.2192_*2193insTTTTTTT	SNAPC1	ENSG00000023608.5	transcript	ENST00000216294.5	protein_coding		748		chr14	TogoVar
SNCAIP_chr5_122307237_122469219	122330117	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01243.hp2 HG02258.hp2 others(7): Show HG01074.hp2 HG01243.hp2 HG02258.hp2 HG02572.hp2 HG02615.hp2 HG02717.hp2 HG02818.hp2 HG03098.hp2 HG03453.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0076 others(7): Show a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0004g0072	10	130	0.0769	7	c.-47 others(26): Show c.-47+17849_-47+17855dupTTTTTTT	SNCAIP	ENSG00000064692.20	transcript	ENST00000261368.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
SNCA_chr4_89719099_89842161	89725318	T T	TAAAAAAA TAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01109.hp2 HG02055.hp1 HG02258.hp2 others(8): Show HG01109.hp2 HG02055.hp1 HG02258.hp2 HG02723.hp2 HG02896.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03453.hp2 HG03579.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0017 a0001c0001t0018 others(4): Show a0001c0001t0011 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0024 a0001c0001t0030 a0001c0001t0031	a0001c0001t0011g0010 a0001c0001t0011g0118 a0001c0001t0011g0282 others(7): Show a0001c0001t0011g0010 a0001c0001t0011g0118 a0001c0001t0011g0282 a0001c0001t0017g0244 a0001c0001t0017g0253 a0001c0001t0018g0016 a0001c0001t0019g0153 a0001c0001t0024g0315 a0001c0001t0030g0227 a0001c0001t0031g0149	11	17	0.6471	7	c.13 others(18): Show c.1303_*1309dupTTTTTTT	SNCA	ENSG00000145335.17	transcript	ENST00000394991.8	protein_coding	6/6	1309		chr4	TogoVar
SNCA_chr4_89719099_89842161	89839023	C C	CTTTTTTT CTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG01167.hp1 HG01169.hp2 others(8): Show HG00438.hp1 HG01167.hp1 HG01169.hp2 HG01192.hp1 HG01884.hp1 HG02451.hp2 HG02630.hp1 HG02717.hp1 HG03669.hp2 HG04115.hp2 NA18747.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0001t0029 a0002c0003t0002	a0001c0001t0001g0234 a0001c0001t0002g0267 a0001c0001t0002g0284 others(8): Show a0001c0001t0001g0234 a0001c0001t0002g0267 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0013g0140 a0001c0001t0013g0141 a0001c0001t0029g0241 a0002c0003t0002g0274	11	71	0.1549	7	c.-20 others(18): Show c.-2088_-2087insAAAAAAA	SNCA	ENSG00000145335.17	transcript	ENST00000394991.8	protein_coding		1863		chr4	TogoVar
SND1_chr7_127647194_128097593	127766771	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01192.hp1 HG01433.hp2 others(6): Show HG01071.hp2 HG01192.hp1 HG01433.hp2 NA18948.hp1 NA18982.hp1 NA18998.hp2 NA19030.hp1 NA19085.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0054 others(6): Show a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0129 a0001c0001t0001g0141 a0001c0001t0001g0258 a0001c0002t0001g0190 a0001c0002t0001g0199 a0001c0002t0001g0256	9	19	0.4737	7	c.115 others(28): Show c.1153-40689_1153-40683dupAAAAAAA	SND1	ENSG00000197157.11	transcript	ENST00000354725.8	protein_coding	10/23		INFO_REALIGN_3_PRIME	chr7	TogoVar

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