Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SPTBN1_chr2_54451327_54676446	54468315	TAAAATAA others(1): Show TAAAATAAA	T T	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02622.hp1 NA20752.hp1 HG01255.hp1 HG02622.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0039 a0001c0001t0002 a0001c0001t0039	a0001c0001t0002g0163 a0001c0001t0002g0210 a0001c0001t0039g0058 a0001c0001t0002g0163 a0001c0001t0002g0210 a0001c0001t0039g0058	3	370	0.0081	-8	c.-48 others(27): Show c.-48+11809_-48+11816delATAAAAAA	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54481391	AGTGTGTG others(1): Show AGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01071.hp2 HG01081.hp2 others(26): Show HG00323.hp1 HG01071.hp2 HG01081.hp2 HG01175.hp2 HG01261.hp1 HG02083.hp1 HG02145.hp1 HG02280.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02647.hp2 HG02922.hp2 HG02965.hp1 HG03017.hp1 HG03041.hp2 HG03209.hp2 HG03225.hp2 HG03490.hp1 HG03688.hp2 NA18957.hp1 NA18974.hp1 NA18993.hp1 NA19000.hp2 NA19043.hp1 NA19084.hp2 NA20129.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0002c0006	a0001c0001t0005 a0001c0001t0007 a0001c0001t0014 others(12): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0014 a0001c0001t0019 a0001c0001t0041 a0001c0002t0001 a0001c0003t0003 a0001c0004t0004 a0001c0004t0007 a0001c0004t0010 a0001c0004t0035 a0001c0005t0003 a0001c0005t0008 a0001c0005t0011 a0002c0006t0003	a0001c0001t0005g0353 a0001c0001t0007g0196 a0001c0001t0014g0097 others(26): Show a0001c0001t0005g0353 a0001c0001t0007g0196 a0001c0001t0014g0097 a0001c0001t0019g0183 a0001c0001t0041g0247 a0001c0002t0001g0080 a0001c0003t0003g0261 a0001c0004t0004g0131 a0001c0004t0004g0194 a0001c0004t0004g0195 a0001c0004t0004g0277 a0001c0004t0004g0318 a0001c0004t0007g0055 a0001c0004t0007g0057 a0001c0004t0007g0110 a0001c0004t0007g0173 a0001c0004t0010g0109 a0001c0004t0010g0315 a0001c0004t0010g0348 a0001c0004t0035g0042 a0001c0005t0003g0181 a0001c0005t0003g0182 a0001c0005t0003g0190 a0001c0005t0003g0191 a0001c0005t0008g0056 a0001c0005t0011g0038 a0001c0005t0011g0253 a0001c0005t0011g0254 a0002c0006t0003g0184	29	370	0.0784	-8	c.-48 others(27): Show c.-48+24916_-48+24923delGTGTGTGT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54506123	CTAAATAA others(1): Show CTAAATAAA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02280.hp2 HG02300.hp1 others(3): Show HG01884.hp2 HG02280.hp2 HG02300.hp1 HG03225.hp1 NA19030.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0012	a0001c0001t0019 a0001c0001t0050 a0001c0002t0001 others(2): Show a0001c0001t0019 a0001c0001t0050 a0001c0002t0001 a0001c0003t0003 a0001c0012t0016	a0001c0001t0019g0241 a0001c0001t0050g0242 a0001c0002t0001g0274 others(3): Show a0001c0001t0019g0241 a0001c0001t0050g0242 a0001c0002t0001g0274 a0001c0003t0003g0304 a0001c0012t0016g0026 a0001c0012t0016g0135	6	370	0.0162	-8	c.-47 others(27): Show c.-47-20216_-47-20209delTAAATAAA	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54533349	AGTGTGTG others(1): Show AGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02451.hp1 HG02486.hp2 others(8): Show HG01978.hp2 HG02451.hp1 HG02486.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG03453.hp1 HG03471.hp2 HG03927.hp1 NA19030.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 others(2): Show a0001c0001 a0001c0004 a0001c0005 a0001c0008 a0001c0009	a0001c0001t0002 a0001c0004t0010 a0001c0005t0008 others(3): Show a0001c0001t0002 a0001c0004t0010 a0001c0005t0008 a0001c0005t0021 a0001c0008t0005 a0001c0009t0045	a0001c0001t0002g0210 a0001c0004t0010g0175 a0001c0005t0008g0041 others(8): Show a0001c0001t0002g0210 a0001c0004t0010g0175 a0001c0005t0008g0041 a0001c0005t0008g0048 a0001c0005t0008g0176 a0001c0005t0021g0040 a0001c0008t0005g0046 a0001c0008t0005g0243 a0001c0008t0005g0244 a0001c0008t0005g0260 a0001c0009t0045g0298	11	370	0.0297	-8	c.148 others(25): Show c.148+6822_148+6829delGTGTGTGT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54533900	TCACACAC others(1): Show TCACACACA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(51): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00423.hp1 HG00438.hp1 HG00609.hp2 HG01106.hp1 HG01109.hp1 HG01168.hp2 HG01256.hp1 HG01258.hp2 HG01261.hp2 HG01884.hp1 HG02015.hp2 HG02109.hp1 HG02135.hp2 HG02258.hp2 HG02602.hp1 HG02630.hp2 HG02698.hp2 HG02738.hp1 HG02897.hp2 HG02965.hp1 HG03098.hp2 HG03490.hp2 HG03492.hp1 HG03579.hp2 HG03831.hp1 HG04115.hp2 HG04204.hp1 HG04228.hp1 NA18612.hp1 NA18906.hp2 NA18940.hp1 NA18941.hp2 NA18945.hp1 NA18950.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp2 NA18974.hp1 NA18982.hp1 NA18986.hp1 NA18989.hp1 NA18994.hp2 NA19005.hp1 NA19010.hp2 NA19043.hp2 NA19062.hp2 NA19067.hp1 NA19086.hp2 NA19090.hp2 NA19240.hp1 NA20300.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0011	a0001c0002 a0001c0003 a0001c0011 others(5): Show a0001c0002 a0001c0003 a0001c0011 a0001c0028 a0001c0029 a0002c0006 a0003c0030 a0011c0027	a0001c0002t0001 a0001c0002t0004 a0001c0003t0003 others(14): Show a0001c0002t0001 a0001c0002t0004 a0001c0003t0003 a0001c0003t0004 a0001c0003t0009 a0001c0003t0024 a0001c0003t0027 a0001c0003t0032 a0001c0003t0033 a0001c0003t0036 a0001c0011t0003 a0001c0011t0023 a0001c0028t0003 a0001c0029t0006 a0002c0006t0003 a0003c0030t0003 a0011c0027t0009	a0001c0002t0001g0117 a0001c0002t0004g0101 a0001c0003t0003g0036 others(51): Show a0001c0002t0001g0117 a0001c0002t0004g0101 a0001c0003t0003g0036 a0001c0003t0003g0037 a0001c0003t0003g0073 a0001c0003t0003g0074 a0001c0003t0003g0113 a0001c0003t0003g0138 a0001c0003t0003g0139 a0001c0003t0003g0177 a0001c0003t0003g0256 a0001c0003t0003g0257 a0001c0003t0003g0261 a0001c0003t0003g0262 a0001c0003t0003g0292 a0001c0003t0003g0319 a0001c0003t0003g0320 a0001c0003t0003g0355 a0001c0003t0003g0356 a0001c0003t0003g0357 a0001c0003t0003g0360 a0001c0003t0004g0024 a0001c0003t0009g0227 a0001c0003t0009g0233 a0001c0003t0009g0234 a0001c0003t0009g0236 a0001c0003t0009g0237 a0001c0003t0024g0362 a0001c0003t0024g0363 a0001c0003t0027g0053 a0001c0003t0027g0054 a0001c0003t0032g0321 a0001c0003t0033g0172 a0001c0003t0036g0361 a0001c0011t0003g0171 a0001c0011t0003g0228 a0001c0011t0003g0268 a0001c0011t0023g0229 a0001c0011t0023g0230 a0001c0028t0003g0352 a0001c0029t0006g0102 a0002c0006t0003g0014 a0002c0006t0003g0016 a0002c0006t0003g0141 a0002c0006t0003g0151 a0002c0006t0003g0152 a0002c0006t0003g0178 a0002c0006t0003g0179 a0002c0006t0003g0184 a0002c0006t0003g0185 a0002c0006t0003g0188 a0002c0006t0003g0200 a0003c0030t0003g0075 a0011c0027t0009g0232	54	370	0.1460	-8	c.148 others(25): Show c.148+7354_148+7361delACACACAC	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54566185	CTTTTTTT others(1): Show CTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02559.hp1 HG02572.hp1 others(4): Show HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02647.hp1 HG02818.hp2 HG03209.hp2 HG03453.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0011 a0001c0005t0021 a0001c0005t0008 a0001c0005t0011 a0001c0005t0021	a0001c0005t0008g0041 a0001c0005t0011g0038 a0001c0005t0011g0051 others(4): Show a0001c0005t0008g0041 a0001c0005t0011g0038 a0001c0005t0011g0051 a0001c0005t0011g0253 a0001c0005t0011g0254 a0001c0005t0021g0040 a0001c0005t0021g0052	7	370	0.0189	-8	c.149 others(27): Show c.149-32896_149-32889delTTTTTTTT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54571687	ATAGTGTG others(1): Show ATAGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(121): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00423.hp1 HG00438.hp1 HG00609.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01433.hp2 HG01884.hp1 HG01884.hp2 HG01943.hp1 HG01975.hp1 HG01978.hp2 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp2 HG02717.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03831.hp1 HG04115.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18941.hp2 NA18945.hp1 NA18950.hp1 NA18951.hp2 NA18954.hp2 NA18955.hp2 NA18957.hp2 NA18974.hp1 NA18982.hp1 NA18986.hp1 NA18989.hp1 NA18992.hp1 NA18994.hp2 NA19005.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19062.hp2 NA19067.hp1 NA19084.hp2 NA19086.hp2 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0011	a0001c0001 a0001c0003 a0001c0005 others(13): Show a0001c0001 a0001c0003 a0001c0005 a0001c0008 a0001c0009 a0001c0011 a0001c0013 a0001c0018 a0001c0019 a0001c0028 a0001c0029 a0001c0033 a0002c0006 a0003c0030 a0006c0035 a0011c0027	a0001c0001t0003 a0001c0001t0007 a0001c0001t0018 others(37): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0018 a0001c0001t0044 a0001c0003t0003 a0001c0003t0004 a0001c0003t0009 a0001c0003t0024 a0001c0003t0027 a0001c0003t0032 a0001c0003t0033 a0001c0003t0036 a0001c0005t0003 a0001c0005t0008 a0001c0005t0011 a0001c0005t0012 a0001c0005t0021 a0001c0005t0025 a0001c0005t0031 a0001c0005t0034 a0001c0005t0043 a0001c0008t0005 a0001c0008t0026 a0001c0009t0002 a0001c0009t0007 a0001c0009t0010 a0001c0009t0045 a0001c0011t0003 a0001c0011t0023 a0001c0013t0015 a0001c0018t0007 a0001c0018t0042 a0001c0019t0012 a0001c0028t0003 a0001c0029t0006 a0001c0033t0007 a0002c0006t0003 a0003c0030t0003 a0006c0035t0030 a0011c0027t0009	a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 others(121): Show a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0223 a0001c0001t0007g0196 a0001c0001t0007g0270 a0001c0001t0007g0296 a0001c0001t0018g0180 a0001c0001t0018g0303 a0001c0001t0044g0297 a0001c0003t0003g0008 a0001c0003t0003g0036 a0001c0003t0003g0037 a0001c0003t0003g0073 a0001c0003t0003g0074 a0001c0003t0003g0113 a0001c0003t0003g0138 a0001c0003t0003g0139 a0001c0003t0003g0177 a0001c0003t0003g0251 a0001c0003t0003g0256 a0001c0003t0003g0257 a0001c0003t0003g0261 a0001c0003t0003g0262 a0001c0003t0003g0292 a0001c0003t0003g0304 a0001c0003t0003g0305 a0001c0003t0003g0319 a0001c0003t0003g0320 a0001c0003t0003g0355 a0001c0003t0003g0356 a0001c0003t0003g0357 a0001c0003t0003g0360 a0001c0003t0003g0366 a0001c0003t0004g0024 a0001c0003t0009g0227 a0001c0003t0009g0233 a0001c0003t0009g0234 a0001c0003t0009g0235 a0001c0003t0009g0236 a0001c0003t0009g0237 a0001c0003t0024g0362 a0001c0003t0024g0363 a0001c0003t0027g0053 a0001c0003t0027g0054 a0001c0003t0032g0321 a0001c0003t0033g0172 a0001c0003t0036g0361 a0001c0005t0003g0004 a0001c0005t0003g0005 a0001c0005t0003g0047 a0001c0005t0003g0181 a0001c0005t0003g0182 a0001c0005t0003g0190 a0001c0005t0003g0191 a0001c0005t0008g0041 a0001c0005t0008g0048 a0001c0005t0008g0049 a0001c0005t0008g0050 a0001c0005t0008g0056 a0001c0005t0008g0062 a0001c0005t0008g0176 a0001c0005t0008g0269 a0001c0005t0008g0368 a0001c0005t0011g0038 a0001c0005t0011g0051 a0001c0005t0011g0253 a0001c0005t0011g0254 a0001c0005t0012g0369 a0001c0005t0012g0370 a0001c0005t0021g0040 a0001c0005t0021g0052 a0001c0005t0025g0240 a0001c0005t0025g0250 a0001c0005t0031g0187 a0001c0005t0034g0003 a0001c0005t0043g0039 a0001c0008t0005g0045 a0001c0008t0005g0046 a0001c0008t0005g0243 a0001c0008t0005g0244 a0001c0008t0005g0245 a0001c0008t0005g0260 a0001c0008t0005g0306 a0001c0008t0026g0365 a0001c0009t0002g0285 a0001c0009t0007g0272 a0001c0009t0007g0280 a0001c0009t0007g0286 a0001c0009t0007g0288 a0001c0009t0007g0289 a0001c0009t0007g0336 a0001c0009t0010g0088 a0001c0009t0045g0298 a0001c0011t0003g0171 a0001c0011t0003g0228 a0001c0011t0003g0268 a0001c0011t0023g0229 a0001c0011t0023g0230 a0001c0013t0015g0255 a0001c0013t0015g0258 a0001c0013t0015g0259 a0001c0013t0015g0263 a0001c0018t0007g0112 a0001c0018t0042g0027 a0001c0019t0012g0246 a0001c0019t0012g0252 a0001c0028t0003g0352 a0001c0029t0006g0102 a0001c0033t0007g0290 a0002c0006t0003g0014 a0002c0006t0003g0016 a0002c0006t0003g0141 a0002c0006t0003g0151 a0002c0006t0003g0152 a0002c0006t0003g0178 a0002c0006t0003g0179 a0002c0006t0003g0184 a0002c0006t0003g0185 a0002c0006t0003g0188 a0002c0006t0003g0200 a0003c0030t0003g0075 a0006c0035t0030g0174 a0011c0027t0009g0232	124	370	0.3351	-8	c.149 others(27): Show c.149-27395_149-27388delAGTGTGTT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54673059	GGTGTGTG others(1): Show GGTGTGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00323.hp1 others(158): Show HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00609.hp1 HG00639.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02040.hp1 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02486.hp1 HG02559.hp2 HG02602.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03927.hp1 HG04115.hp1 HG04184.hp1 HG06807.hp2 NA18612.hp1 NA18906.hp2 NA18940.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp1 NA18955.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp2 NA18962.hp1 NA18963.hp1 NA18964.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18983.hp1 NA18985.hp2 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18989.hp2 NA18990.hp2 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18998.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19005.hp2 NA19010.hp2 NA19030.hp1 NA19055.hp1 NA19056.hp1 NA19058.hp2 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp2 NA19076.hp2 NA19079.hp1 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19240.hp1 NA20752.hp2 NA20905.hp1	a0001 a0004 a0005 others(5): Show a0001 a0004 a0005 a0008 a0009 a0010 a0012 a0013	a0001c0001 a0001c0002 a0001c0003 others(17): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0009 a0001c0012 a0001c0017 a0001c0018 a0001c0023 a0001c0029 a0001c0033 a0001c0038 a0004c0031 a0005c0039 a0008c0036 a0009c0032 a0010c0034 a0012c0021 a0013c0037	a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 others(34): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 a0001c0001t0018 a0001c0002t0001 a0001c0002t0004 a0001c0002t0006 a0001c0002t0028 a0001c0002t0046 a0001c0002t0048 a0001c0003t0004 a0001c0003t0027 a0001c0004t0002 a0001c0004t0004 a0001c0004t0007 a0001c0004t0010 a0001c0007t0001 a0001c0007t0013 a0001c0009t0002 a0001c0009t0007 a0001c0009t0010 a0001c0009t0045 a0001c0012t0016 a0001c0017t0001 a0001c0018t0007 a0001c0018t0042 a0001c0023t0001 a0001c0029t0006 a0001c0033t0007 a0001c0038t0007 a0004c0031t0047 a0005c0039t0001 a0008c0036t0004 a0009c0032t0001 a0010c0034t0037 a0012c0021t0001 a0013c0037t0004	a0001c0001t0004g0001 a0001c0001t0004g0070 a0001c0001t0004g0091 others(158): Show a0001c0001t0004g0001 a0001c0001t0004g0070 a0001c0001t0004g0091 a0001c0001t0004g0092 a0001c0001t0004g0093 a0001c0001t0004g0125 a0001c0001t0004g0129 a0001c0001t0004g0130 a0001c0001t0004g0142 a0001c0001t0004g0143 a0001c0001t0004g0144 a0001c0001t0004g0145 a0001c0001t0004g0213 a0001c0001t0007g0347 a0001c0001t0010g0238 a0001c0001t0018g0127 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0028 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0077 a0001c0002t0001g0080 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0086 a0001c0002t0001g0103 a0001c0002t0001g0111 a0001c0002t0001g0115 a0001c0002t0001g0117 a0001c0002t0001g0121 a0001c0002t0001g0124 a0001c0002t0001g0133 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0186 a0001c0002t0001g0204 a0001c0002t0001g0231 a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0287 a0001c0002t0001g0307 a0001c0002t0001g0308 a0001c0002t0001g0310 a0001c0002t0001g0312 a0001c0002t0001g0324 a0001c0002t0001g0325 a0001c0002t0001g0330 a0001c0002t0001g0331 a0001c0002t0001g0333 a0001c0002t0001g0334 a0001c0002t0001g0335 a0001c0002t0001g0337 a0001c0002t0001g0359 a0001c0002t0004g0101 a0001c0002t0006g0089 a0001c0002t0006g0114 a0001c0002t0006g0116 a0001c0002t0006g0148 a0001c0002t0006g0149 a0001c0002t0006g0154 a0001c0002t0006g0155 a0001c0002t0006g0157 a0001c0002t0006g0158 a0001c0002t0006g0159 a0001c0002t0006g0160 a0001c0002t0006g0271 a0001c0002t0006g0276 a0001c0002t0006g0278 a0001c0002t0006g0281 a0001c0002t0006g0284 a0001c0002t0006g0299 a0001c0002t0006g0313 a0001c0002t0006g0314 a0001c0002t0006g0323 a0001c0002t0006g0327 a0001c0002t0006g0328 a0001c0002t0028g0294 a0001c0002t0028g0295 a0001c0002t0046g0332 a0001c0002t0048g0025 a0001c0003t0004g0024 a0001c0003t0027g0053 a0001c0003t0027g0054 a0001c0004t0002g0161 a0001c0004t0004g0068 a0001c0004t0004g0069 a0001c0004t0004g0071 a0001c0004t0004g0072 a0001c0004t0004g0096 a0001c0004t0004g0098 a0001c0004t0004g0107 a0001c0004t0004g0131 a0001c0004t0004g0132 a0001c0004t0004g0134 a0001c0004t0004g0166 a0001c0004t0004g0170 a0001c0004t0004g0193 a0001c0004t0004g0194 a0001c0004t0004g0195 a0001c0004t0004g0201 a0001c0004t0004g0202 a0001c0004t0004g0205 a0001c0004t0004g0209 a0001c0004t0004g0218 a0001c0004t0004g0264 a0001c0004t0004g0265 a0001c0004t0004g0266 a0001c0004t0004g0267 a0001c0004t0004g0277 a0001c0004t0004g0317 a0001c0004t0004g0318 a0001c0004t0004g0358 a0001c0004t0007g0055 a0001c0004t0007g0057 a0001c0004t0007g0110 a0001c0004t0007g0173 a0001c0004t0010g0109 a0001c0004t0010g0175 a0001c0004t0010g0315 a0001c0004t0010g0348 a0001c0007t0001g0081 a0001c0007t0001g0119 a0001c0007t0001g0192 a0001c0007t0001g0222 a0001c0007t0001g0302 a0001c0007t0001g0311 a0001c0007t0013g0043 a0001c0007t0013g0044 a0001c0007t0013g0108 a0001c0007t0013g0137 a0001c0009t0002g0285 a0001c0009t0007g0272 a0001c0009t0007g0280 a0001c0009t0007g0286 a0001c0009t0007g0288 a0001c0009t0007g0289 a0001c0009t0007g0336 a0001c0009t0010g0088 a0001c0009t0045g0298 a0001c0012t0016g0026 a0001c0012t0016g0135 a0001c0012t0016g0153 a0001c0012t0016g0189 a0001c0017t0001g0013 a0001c0017t0001g0029 a0001c0018t0007g0112 a0001c0018t0042g0027 a0001c0023t0001g0197 a0001c0029t0006g0102 a0001c0033t0007g0290 a0001c0038t0007g0248 a0004c0031t0047g0279 a0005c0039t0001g0002 a0008c0036t0004g0063 a0009c0032t0001g0006 a0010c0034t0037g0011 a0012c0021t0001g0326 a0013c0037t0004g0329	161	370	0.4351	-8	c.44 others(19): Show c.4491_*4498delGTGTGTGT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding		1614		chr2	TogoVar
SPTBN4_chr19_40462001_40581464	40479675	CATATATA others(1): Show CATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02135.hp2 NA18948.hp2 others(3): Show HG01255.hp1 HG02135.hp2 NA18948.hp2 NA18967.hp1 NA18979.hp2 NA19011.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0012 others(1): Show a0001c0001 a0001c0002 a0001c0012 a0003c0005	a0001c0001t0001 a0001c0002t0001 a0001c0012t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0012t0001 a0003c0005t0001	a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0002t0001g0159 others(3): Show a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0002t0001g0159 a0001c0012t0001g0068 a0001c0012t0001g0123 a0003c0005t0001g0059	6	234	0.0256	-8	c.169 others(25): Show c.169+6906_169+6913delATATATAT	SPTBN4	ENSG00000160460.17	transcript	ENST00000598249.6	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPTBN4_chr19_40462001_40581464	40498373	TTTTATTT others(1): Show TTTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00741.hp2 others(31): Show HG00099.hp2 HG00140.hp1 HG00741.hp2 HG01109.hp2 HG01496.hp1 HG01891.hp1 HG01934.hp1 HG01978.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02083.hp2 HG02109.hp2 HG02145.hp1 HG02647.hp1 HG02738.hp1 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02965.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03927.hp1 HG04199.hp2 NA18906.hp2 NA18971.hp2 NA19002.hp2 NA20300.hp1 NA20752.hp1 NA21309.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0010 a0011 a0016 a0028	a0001c0001 a0001c0002 a0001c0010 others(15): Show a0001c0001 a0001c0002 a0001c0010 a0001c0050 a0002c0003 a0002c0015 a0002c0021 a0002c0022 a0003c0006 a0004c0011 a0004c0014 a0005c0009 a0005c0030 a0010c0048 a0010c0051 a0011c0033 a0016c0032 a0028c0049	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(17): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0010t0001 a0001c0050t0002 a0002c0003t0001 a0002c0015t0001 a0002c0021t0001 a0002c0022t0001 a0003c0006t0001 a0004c0011t0001 a0004c0014t0001 a0005c0009t0001 a0005c0030t0001 a0010c0048t0001 a0010c0051t0001 a0011c0033t0001 a0016c0032t0001 a0028c0049t0001	a0001c0001t0001g0225 a0001c0002t0001g0017 a0001c0002t0001g0022 others(31): Show a0001c0001t0001g0225 a0001c0002t0001g0017 a0001c0002t0001g0022 a0001c0002t0001g0037 a0001c0002t0001g0076 a0001c0002t0001g0083 a0001c0002t0001g0116 a0001c0002t0001g0178 a0001c0002t0001g0194 a0001c0002t0001g0202 a0001c0002t0001g0228 a0001c0002t0002g0183 a0001c0002t0002g0196 a0001c0002t0003g0163 a0001c0010t0001g0149 a0001c0050t0002g0206 a0002c0003t0001g0197 a0002c0003t0001g0198 a0002c0015t0001g0089 a0002c0015t0001g0135 a0002c0015t0001g0179 a0002c0021t0001g0157 a0002c0022t0001g0010 a0003c0006t0001g0166 a0004c0011t0001g0138 a0004c0011t0001g0172 a0004c0014t0001g0055 a0005c0009t0001g0148 a0005c0030t0001g0141 a0010c0048t0001g0209 a0010c0051t0001g0185 a0011c0033t0001g0006 a0016c0032t0001g0057 a0028c0049t0001g0071	34	234	0.1453	-8	c.784 others(23): Show c.784+809_784+816delATTTATTT	SPTBN4	ENSG00000160460.17	transcript	ENST00000598249.6	protein_coding	7/35		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPTBN4_chr19_40462001_40581464	40505700	GAGGAAGG others(1): Show GAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01255.hp1 HG01496.hp2 others(5): Show HG01175.hp1 HG01255.hp1 HG01496.hp2 HG01891.hp1 HG01934.hp1 HG02886.hp1 HG03209.hp1 NA18983.hp2	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0010	a0001c0001 a0001c0002 a0003c0005 others(2): Show a0001c0001 a0001c0002 a0003c0005 a0005c0009 a0010c0048	a0001c0001t0001 a0001c0002t0005 a0003c0005t0001 others(2): Show a0001c0001t0001 a0001c0002t0005 a0003c0005t0001 a0005c0009t0001 a0010c0048t0001	a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0204 others(5): Show a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0204 a0001c0001t0001g0225 a0001c0002t0005g0193 a0003c0005t0001g0059 a0005c0009t0001g0148 a0010c0048t0001g0209	8	234	0.0342	-8	c.166 others(25): Show c.1666-489_1666-482delGAAGGAAG	SPTBN4	ENSG00000160460.17	transcript	ENST00000598249.6	protein_coding	12/35		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPTBN4_chr19_40462001_40581464	40569936	CCACACAC others(1): Show CCACACACA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00621.hp1 HG00621.hp2 others(75): Show HG00099.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00738.hp1 HG00741.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp2 HG01175.hp1 HG01255.hp2 HG01257.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp2 HG02027.hp1 HG02055.hp2 HG02071.hp1 HG02083.hp2 HG02109.hp2 HG02135.hp1 HG02257.hp1 HG02257.hp2 HG02572.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG03017.hp1 HG03017.hp2 HG03139.hp2 HG03209.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA18946.hp2 NA18948.hp1 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18979.hp1 NA18983.hp2 NA18999.hp1 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp2 NA19054.hp1 NA19064.hp1 NA19077.hp2 NA19081.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0008 a0018 a0025 a0026 a0028	a0001c0001 a0001c0002 a0001c0008 others(16): Show a0001c0001 a0001c0002 a0001c0008 a0001c0010 a0001c0017 a0001c0050 a0001c0058 a0002c0003 a0002c0004 a0004c0007 a0004c0011 a0004c0016 a0004c0028 a0008c0018 a0008c0041 a0018c0023 a0025c0039 a0026c0029 a0028c0049	a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 others(20): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0008t0001 a0001c0010t0001 a0001c0017t0001 a0001c0050t0002 a0001c0058t0001 a0002c0003t0001 a0002c0004t0001 a0004c0007t0001 a0004c0011t0001 a0004c0016t0001 a0004c0028t0001 a0008c0018t0001 a0008c0041t0001 a0018c0023t0001 a0025c0039t0001 a0026c0029t0001 a0028c0049t0001	a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0031 others(75): Show a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0067 a0001c0001t0001g0092 a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0001g0119 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0152 a0001c0001t0001g0161 a0001c0001t0001g0184 a0001c0001t0001g0195 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0006g0233 a0001c0002t0001g0017 a0001c0002t0001g0022 a0001c0002t0001g0037 a0001c0002t0001g0076 a0001c0002t0001g0083 a0001c0002t0001g0086 a0001c0002t0001g0116 a0001c0002t0001g0159 a0001c0002t0001g0178 a0001c0002t0001g0194 a0001c0002t0001g0202 a0001c0002t0001g0205 a0001c0002t0001g0228 a0001c0002t0001g0231 a0001c0002t0002g0183 a0001c0002t0002g0196 a0001c0002t0003g0163 a0001c0002t0005g0193 a0001c0008t0001g0060 a0001c0008t0001g0061 a0001c0008t0001g0062 a0001c0008t0001g0151 a0001c0008t0001g0153 a0001c0008t0001g0155 a0001c0008t0001g0160 a0001c0010t0001g0098 a0001c0010t0001g0100 a0001c0010t0001g0149 a0001c0010t0001g0230 a0001c0017t0001g0078 a0001c0017t0001g0124 a0001c0050t0002g0206 a0001c0058t0001g0090 a0002c0003t0001g0099 a0002c0003t0001g0127 a0002c0003t0001g0165 a0002c0004t0001g0042 a0002c0004t0001g0200 a0004c0007t0001g0004 a0004c0007t0001g0139 a0004c0007t0001g0140 a0004c0007t0001g0173 a0004c0011t0001g0172 a0004c0016t0001g0177 a0004c0028t0001g0170 a0008c0018t0001g0108 a0008c0041t0001g0105 a0018c0023t0001g0012 a0025c0039t0001g0079 a0026c0029t0001g0174 a0028c0049t0001g0071	78	234	0.3333	-8	c.702 others(25): Show c.7026+241_7026+248delCACACACA	SPTBN4	ENSG00000160460.17	transcript	ENST00000598249.6	protein_coding	32/35		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPTBN4_chr19_40462001_40581464	40577948	TACACACA others(1): Show TACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp1 HG04199.hp2 NA18970.hp2 others(2): Show HG03927.hp1 HG04199.hp2 NA18970.hp2 NA18983.hp1 NA19088.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0006 a0001c0002 a0003c0006	a0001c0002t0001 a0001c0002t0002 a0003c0006t0001 others(1): Show a0001c0002t0001 a0001c0002t0002 a0003c0006t0001 a0003c0006t0004	a0001c0002t0001g0076 a0001c0002t0002g0183 a0003c0006t0001g0084 others(2): Show a0001c0002t0001g0076 a0001c0002t0002g0183 a0003c0006t0001g0084 a0003c0006t0001g0212 a0003c0006t0004g0080	5	234	0.0214	-8	c.23 others(19): Show c.2380_*2387delACACACAC	SPTBN4	ENSG00000160460.17	transcript	ENST00000598249.6	protein_coding		1485		chr19	TogoVar
SPTB_chr14_64741283_64884907	64824700	TCTGACAC others(1): Show TCTGACACA	T T	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01243.hp2 HG02055.hp2 others(2): Show HG01192.hp2 HG01243.hp2 HG02055.hp2 HG02257.hp2 NA18906.hp1	a0004 a0016 a0004 a0016	a0004c0019 a0004c0051 a0016c0050 a0004c0019 a0004c0051 a0016c0050	a0004c0019t0001 a0004c0051t0001 a0016c0050t0017 a0004c0019t0001 a0004c0051t0001 a0016c0050t0017	a0004c0019t0001g0042 a0004c0019t0001g0044 a0004c0019t0001g0045 others(2): Show a0004c0019t0001g0042 a0004c0019t0001g0044 a0004c0019t0001g0045 a0004c0051t0001g0043 a0016c0050t0017g0041	5	268	0.0187	-8	c.-51 others(25): Show c.-51-1563_-51-1556delTGTGTCAG	SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding	1/35			chr14	TogoVar
SPTB_chr14_64741283_64884907	64859714	CTCTCTCT others(1): Show CTCTCTCTA	C C	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03540.hp1 NA18942.hp1 HG03017.hp2 HG03540.hp1 NA18942.hp1	a0002 a0003 a0002 a0003	a0002c0007 a0002c0032 a0003c0047 a0002c0007 a0002c0032 a0003c0047	a0002c0007t0001 a0002c0032t0001 a0003c0047t0032 a0002c0007t0001 a0002c0032t0001 a0003c0047t0032	a0002c0007t0001g0136 a0002c0032t0001g0020 a0003c0047t0032g0260 a0002c0007t0001g0136 a0002c0032t0001g0020 a0003c0047t0032g0260	3	268	0.0112	-8	c.-52 others(27): Show c.-52+20070_-52+20077delTAGAGAGA	SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding	1/35			chr14	TogoVar
SPTB_chr14_64741283_64884907	64859716	CTCTCTAT others(1): Show CTCTCTATA	C C	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03654.hp1 HG03704.hp1 others(6): Show HG03239.hp1 HG03654.hp1 HG03704.hp1 HG03927.hp2 HG04199.hp2 HG04228.hp1 NA18991.hp2 NA19000.hp1 NA19010.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0002c0006 others(4): Show a0001c0001 a0001c0002 a0002c0006 a0002c0033 a0003c0038 a0004c0024 a0005c0015	a0001c0001t0035 a0001c0002t0001 a0002c0006t0014 others(5): Show a0001c0001t0035 a0001c0002t0001 a0002c0006t0014 a0002c0033t0001 a0003c0038t0001 a0004c0024t0001 a0004c0024t0003 a0005c0015t0025	a0001c0001t0035g0025 a0001c0002t0001g0018 a0002c0006t0014g0026 others(6): Show a0001c0001t0035g0025 a0001c0002t0001g0018 a0002c0006t0014g0026 a0002c0006t0014g0032 a0002c0033t0001g0021 a0003c0038t0001g0022 a0004c0024t0001g0024 a0004c0024t0003g0023 a0005c0015t0025g0190	9	268	0.0336	-8	c.-52 others(27): Show c.-52+20068_-52+20075delTATAGAGA	SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding	1/35			chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77523400	GTGGAGAG others(1): Show GTGGAGAGT	G G	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA18950.hp2 NA18966.hp2 HG00621.hp2 NA18950.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0135 a0001c0001t0001g0171 a0001c0001t0001g0090 a0001c0001t0001g0135 a0001c0001t0001g0171	3	246	0.0122	-8	c.130 others(27): Show c.1304-1827_1304-1820delACTCTCCA	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	9/11			chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77534176	TCTCACAC others(1): Show TCTCACACA	T T	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01928.hp1 NA18747.hp2 others(2): Show HG00621.hp2 HG01928.hp1 NA18747.hp2 NA18945.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0146 others(2): Show a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0146 a0001c0001t0001g0157 a0001c0001t0001g0171	5	246	0.0203	-8	c.130 others(29): Show c.1304-12603_1304-12596delTGTGTGAG	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	9/11			chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77534178	TCACACAC others(1): Show TCACACACA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp2 HG01106.hp1 others(29): Show HG00099.hp2 HG00438.hp2 HG01106.hp1 HG01978.hp1 HG01981.hp1 HG02080.hp2 HG02083.hp1 HG02165.hp2 HG02293.hp1 HG02486.hp1 HG02738.hp2 HG03195.hp1 HG03239.hp1 HG04115.hp2 HG04204.hp1 NA18906.hp1 NA18945.hp1 NA18946.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18954.hp2 NA18968.hp1 NA18986.hp2 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19010.hp1 NA19066.hp2 NA19081.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0009 a0001c0001t0014 others(4): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0014 a0001c0001t0015 a0001c0001t0031 a0001c0001t0044 a0001c0003t0017	a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0048 others(29): Show a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0073 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0145 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0191 a0001c0001t0009g0085 a0001c0001t0009g0086 a0001c0001t0014g0100 a0001c0001t0015g0131 a0001c0001t0015g0150 a0001c0001t0031g0043 a0001c0001t0044g0047 a0001c0003t0017g0064	32	246	0.1301	-8	c.130 others(29): Show c.1304-12605_1304-12598delTGTGTGTG	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	9/11			chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77539483	CTTTTTTT others(1): Show CTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp2 HG02559.hp1 others(4): Show HG01884.hp1 HG02145.hp2 HG02559.hp1 HG02965.hp2 HG03098.hp2 HG03195.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0004 a0001c0001t0030 a0001c0001t0043 others(4): Show a0001c0001t0004 a0001c0001t0030 a0001c0001t0043 a0001c0003t0017 a0001c0003t0023 a0001c0005t0037 a0001c0005t0038	a0001c0001t0004g0029 a0001c0001t0030g0161 a0001c0001t0043g0026 others(4): Show a0001c0001t0004g0029 a0001c0001t0030g0161 a0001c0001t0043g0026 a0001c0003t0017g0064 a0001c0003t0023g0133 a0001c0005t0037g0055 a0001c0005t0038g0139	7	246	0.0285	-8	c.130 others(29): Show c.1303+12605_1303+12612delAAAAAAAA	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	9/11			chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77564400	TACACACA others(1): Show TACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp2 HG02145.hp1 others(7): Show HG01515.hp2 HG01517.hp2 HG02145.hp1 HG02165.hp1 HG02559.hp2 HG02809.hp1 HG02809.hp2 HG02976.hp1 HG03516.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0012 a0001c0001 a0001c0006 a0001c0012	a0001c0001t0003 a0001c0001t0004 a0001c0001t0026 others(4): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0026 a0001c0001t0045 a0001c0001t0049 a0001c0006t0018 a0001c0012t0004	a0001c0001t0003g0185 a0001c0001t0003g0218 a0001c0001t0003g0219 others(7): Show a0001c0001t0003g0185 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0226 a0001c0001t0004g0017 a0001c0001t0026g0160 a0001c0001t0045g0164 a0001c0001t0049g0232 a0001c0006t0018g0018 a0001c0012t0004g0230	10	246	0.0407	-8	c.757 others(25): Show c.757-1919_757-1912delGTGTGTGT	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	5/11			chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77573500	AAAATAAA others(1): Show AAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(179): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18747.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18954.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18981.hp1 NA18981.hp2 NA18986.hp1 NA18986.hp2 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp2 NA19043.hp2 NA19066.hp1 NA19066.hp2 NA19081.hp1 NA19087.hp1 NA19087.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0010 a0001c0012 a0001c0013 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(45): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0030 a0001c0001t0031 a0001c0001t0034 a0001c0001t0036 a0001c0001t0040 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0010 a0001c0002t0020 a0001c0002t0028 a0001c0003t0001 a0001c0003t0017 a0001c0004t0004 a0001c0005t0037 a0001c0005t0038 a0001c0006t0018 a0001c0006t0022 a0001c0010t0033 a0001c0012t0004 a0001c0013t0041 a0002c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0019 others(178): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0108 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0229 a0001c0001t0002g0072 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0065 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0122 a0001c0001t0003g0144 a0001c0001t0003g0168 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0189 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0221 a0001c0001t0003g0226 a0001c0001t0004g0005 a0001c0001t0004g0006 a0001c0001t0004g0007 a0001c0001t0004g0008 a0001c0001t0004g0017 a0001c0001t0004g0029 a0001c0001t0004g0111 a0001c0001t0004g0228 a0001c0001t0005g0045 a0001c0001t0005g0074 a0001c0001t0005g0128 a0001c0001t0005g0176 a0001c0001t0005g0178 a0001c0001t0005g0180 a0001c0001t0005g0181 a0001c0001t0005g0182 a0001c0001t0005g0183 a0001c0001t0005g0223 a0001c0001t0006g0053 a0001c0001t0006g0155 a0001c0001t0009g0085 a0001c0001t0009g0086 a0001c0001t0009g0175 a0001c0001t0011g0106 a0001c0001t0011g0107 a0001c0001t0012g0225 a0001c0001t0012g0227 a0001c0001t0013g0027 a0001c0001t0013g0028 a0001c0001t0014g0132 a0001c0001t0015g0131 a0001c0001t0015g0150 a0001c0001t0016g0069 a0001c0001t0016g0137 a0001c0001t0019g0245 a0001c0001t0021g0003 a0001c0001t0024g0220 a0001c0001t0025g0020 a0001c0001t0026g0160 a0001c0001t0027g0136 a0001c0001t0030g0161 a0001c0001t0031g0043 a0001c0001t0034g0091 a0001c0001t0036g0084 a0001c0001t0040g0222 a0001c0001t0044g0047 a0001c0001t0045g0164 a0001c0001t0046g0233 a0001c0001t0047g0231 a0001c0001t0048g0234 a0001c0001t0049g0232 a0001c0001t0050g0237 a0001c0002t0002g0210 a0001c0002t0003g0032 a0001c0002t0003g0062 a0001c0002t0005g0076 a0001c0002t0005g0077 a0001c0002t0005g0187 a0001c0002t0005g0188 a0001c0002t0010g0066 a0001c0002t0010g0067 a0001c0002t0020g0002 a0001c0002t0028g0174 a0001c0003t0001g0012 a0001c0003t0001g0013 a0001c0003t0001g0014 a0001c0003t0001g0021 a0001c0003t0017g0064 a0001c0004t0004g0011 a0001c0004t0004g0142 a0001c0004t0004g0143 a0001c0004t0004g0190 a0001c0005t0037g0055 a0001c0005t0038g0139 a0001c0006t0018g0018 a0001c0006t0018g0075 a0001c0006t0022g0004 a0001c0010t0033g0049 a0001c0012t0004g0230 a0001c0013t0041g0079 a0002c0007t0001g0081 a0002c0007t0001g0156	182	246	0.7398	-8	c.632 others(25): Show c.632-3000_632-2993delATTTATTT	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	4/11			chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77583199	CAATAAAT others(1): Show CAATAAATA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02723.hp1 HG02145.hp2 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0003 a0001c0005t0038 a0001c0001t0003 a0001c0005t0038	a0001c0001t0003g0065 a0001c0005t0038g0139 a0001c0001t0003g0065 a0001c0005t0038g0139	2	246	0.0081	-8	c.328 others(25): Show c.328-4098_328-4091delTATTTATT	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	2/11			chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77591692	CTGTATGT others(1): Show CTGTATGTA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00438.hp1 others(48): Show HG00280.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00621.hp2 HG01106.hp1 HG01346.hp1 HG01516.hp1 HG01928.hp1 HG01978.hp1 HG01981.hp1 HG02071.hp2 HG02083.hp2 HG02109.hp2 HG02165.hp2 HG02293.hp1 HG02486.hp2 HG02602.hp2 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02895.hp1 HG02970.hp1 HG03041.hp1 HG03130.hp1 HG03225.hp1 HG03225.hp2 HG03540.hp1 HG03579.hp2 NA18747.hp2 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18953.hp1 NA18954.hp2 NA18966.hp1 NA18968.hp1 NA18981.hp2 NA18986.hp2 NA18995.hp1 NA19000.hp1 NA19010.hp1 NA19043.hp2 NA19081.hp1 NA19087.hp2 NA19091.hp1 NA19091.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0014 a0001c0001t0016 a0001c0001t0019 a0001c0001t0034 a0001c0001t0036 a0001c0001t0050 a0001c0002t0007 a0001c0002t0019 a0001c0002t0051 a0001c0005t0007 a0002c0007t0001	a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0001t0001g0040 others(48): Show a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0057 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0138 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0157 a0001c0001t0002g0072 a0001c0001t0003g0189 a0001c0001t0005g0074 a0001c0001t0009g0085 a0001c0001t0009g0086 a0001c0001t0014g0100 a0001c0001t0016g0069 a0001c0001t0019g0245 a0001c0001t0034g0091 a0001c0001t0036g0084 a0001c0001t0050g0237 a0001c0002t0007g0236 a0001c0002t0007g0238 a0001c0002t0007g0239 a0001c0002t0007g0240 a0001c0002t0007g0241 a0001c0002t0007g0243 a0001c0002t0019g0235 a0001c0002t0051g0244 a0001c0005t0007g0242 a0002c0007t0001g0081	51	246	0.2073	-8	c.327 others(25): Show c.327+5486_327+5493delTACATACA	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	2/11			chr14	TogoVar
SPTLC3_chr20_13003972_13174103	13027641	GCACACAC others(1): Show GCACACACA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp1 HG00438.hp1 others(42): Show HG00280.hp2 HG00423.hp1 HG00438.hp1 HG00738.hp1 HG01106.hp1 HG01192.hp2 HG01255.hp2 HG01258.hp1 HG01346.hp2 HG01433.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02132.hp1 HG02155.hp1 HG03017.hp1 HG03225.hp2 HG03491.hp2 HG04199.hp1 NA18943.hp2 NA18948.hp1 NA18949.hp2 NA18954.hp2 NA18957.hp1 NA18960.hp1 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18981.hp1 NA18982.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18998.hp1 NA19001.hp2 NA19010.hp1 NA19012.hp1 NA19060.hp2 NA19062.hp2 NA19066.hp2 NA19070.hp2 NA19074.hp1 NA19089.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0009 a0002c0002 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 a0001c0001t0038 a0001c0003t0005 a0001c0003t0010 a0001c0004t0001 a0001c0004t0003 a0001c0004t0009 a0001c0004t0014 a0001c0004t0017 a0001c0004t0024 a0001c0004t0040 a0001c0004t0042 a0001c0009t0005 a0002c0002t0001 a0002c0002t0003 a0002c0002t0043 a0002c0002t0052 a0002c0006t0005	a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0187 others(42): Show a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0210 a0001c0001t0002g0011 a0001c0001t0003g0180 a0001c0001t0003g0192 a0001c0001t0013g0058 a0001c0001t0013g0059 a0001c0001t0038g0189 a0001c0003t0005g0168 a0001c0003t0005g0183 a0001c0003t0010g0236 a0001c0004t0001g0169 a0001c0004t0001g0176 a0001c0004t0001g0177 a0001c0004t0003g0174 a0001c0004t0003g0175 a0001c0004t0009g0170 a0001c0004t0009g0185 a0001c0004t0009g0207 a0001c0004t0009g0208 a0001c0004t0014g0137 a0001c0004t0017g0201 a0001c0004t0017g0205 a0001c0004t0024g0178 a0001c0004t0024g0202 a0001c0004t0040g0206 a0001c0004t0042g0184 a0001c0009t0005g0186 a0001c0009t0005g0204 a0002c0002t0001g0190 a0002c0002t0001g0199 a0002c0002t0003g0196 a0002c0002t0003g0197 a0002c0002t0003g0198 a0002c0002t0003g0200 a0002c0002t0043g0193 a0002c0002t0052g0087 a0002c0006t0005g0086 a0002c0006t0005g0171 a0002c0006t0005g0191 a0002c0006t0005g0194 a0002c0006t0005g0195	45	292	0.1541	-8	c.117 others(27): Show c.117+18289_117+18296delACACACAC	SPTLC3	ENSG00000172296.13	transcript	ENST00000399002.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
SPTLC3_chr20_13003972_13174103	13040046	CGTGTGTG others(1): Show CGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00621.hp1 HG00642.hp2 others(62): Show HG00423.hp2 HG00621.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG01261.hp2 HG01496.hp1 HG01496.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02135.hp2 HG02258.hp1 HG02293.hp2 HG02451.hp2 HG02895.hp1 HG02897.hp2 HG03130.hp1 HG03239.hp1 HG03669.hp2 HG03831.hp1 HG04115.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18944.hp1 NA18946.hp1 NA18948.hp2 NA18949.hp1 NA18951.hp1 NA18951.hp2 NA18956.hp2 NA18957.hp2 NA18961.hp1 NA18968.hp2 NA18970.hp1 NA18971.hp1 NA18977.hp1 NA18981.hp2 NA18986.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19057.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19068.hp2 NA19070.hp1 NA19077.hp2 NA19086.hp1 NA19086.hp2 NA19089.hp1 NA19091.hp1 NA19091.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0008 a0009	a0001c0001 a0001c0003 a0002c0002 others(6): Show a0001c0001 a0001c0003 a0002c0002 a0002c0006 a0002c0018 a0003c0007 a0004c0008 a0008c0017 a0009c0015	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(23): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0013 a0001c0001t0020 a0001c0001t0021 a0001c0001t0033 a0001c0003t0005 a0001c0003t0006 a0001c0003t0032 a0002c0002t0001 a0002c0002t0002 a0002c0002t0007 a0002c0002t0008 a0002c0002t0013 a0002c0002t0021 a0002c0002t0026 a0002c0002t0031 a0002c0002t0034 a0002c0002t0036 a0002c0006t0006 a0002c0018t0002 a0003c0007t0006 a0004c0008t0006 a0008c0017t0013 a0009c0015t0002	a0001c0001t0002g0003 a0001c0001t0002g0015 a0001c0001t0002g0021 others(62): Show a0001c0001t0002g0003 a0001c0001t0002g0015 a0001c0001t0002g0021 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0067 a0001c0001t0003g0070 a0001c0001t0008g0034 a0001c0001t0008g0035 a0001c0001t0013g0060 a0001c0001t0020g0138 a0001c0001t0021g0064 a0001c0001t0033g0045 a0001c0003t0005g0172 a0001c0003t0006g0040 a0001c0003t0032g0022 a0002c0002t0001g0212 a0002c0002t0002g0007 a0002c0002t0002g0008 a0002c0002t0002g0009 a0002c0002t0002g0014 a0002c0002t0002g0019 a0002c0002t0002g0025 a0002c0002t0002g0026 a0002c0002t0002g0027 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0038 a0002c0002t0002g0046 a0002c0002t0002g0051 a0002c0002t0002g0062 a0002c0002t0007g0246 a0002c0002t0007g0260 a0002c0002t0008g0004 a0002c0002t0008g0006 a0002c0002t0008g0012 a0002c0002t0008g0017 a0002c0002t0008g0018 a0002c0002t0008g0044 a0002c0002t0008g0047 a0002c0002t0013g0041 a0002c0002t0021g0065 a0002c0002t0026g0213 a0002c0002t0026g0214 a0002c0002t0031g0001 a0002c0002t0034g0024 a0002c0002t0036g0061 a0002c0006t0006g0016 a0002c0006t0006g0023 a0002c0006t0006g0028 a0002c0006t0006g0036 a0002c0006t0006g0037 a0002c0006t0006g0039 a0002c0006t0006g0042 a0002c0006t0006g0043 a0002c0018t0002g0054 a0003c0007t0006g0002 a0003c0007t0006g0020 a0003c0007t0006g0063 a0003c0007t0006g0066 a0004c0008t0006g0033 a0008c0017t0013g0049 a0009c0015t0002g0050	65	292	0.2226	-8	c.118 others(25): Show c.118-8874_118-8867delGTGTGTGT	SPTLC3	ENSG00000172296.13	transcript	ENST00000399002.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
SPTLC3_chr20_13003972_13174103	13044995	CCACACAC others(1): Show CCACACACA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(109): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01071.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp2 HG01255.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp2 HG01884.hp1 HG01975.hp2 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02132.hp2 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02451.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02723.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03139.hp2 HG03239.hp2 HG03471.hp1 HG03491.hp2 HG03516.hp1 HG03540.hp2 HG03654.hp1 HG03669.hp2 HG03831.hp1 HG04199.hp1 HG04199.hp2 HG06807.hp2 NA18747.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp2 NA18946.hp2 NA18948.hp1 NA18957.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp2 NA18964.hp2 NA18967.hp2 NA18968.hp1 NA18971.hp2 NA18973.hp1 NA18977.hp2 NA18982.hp1 NA18982.hp2 NA18985.hp2 NA18986.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19011.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19060.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0003 a0001c0004 others(7): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0009 a0002c0002 a0003c0007 a0004c0008 a0005c0010 a0006c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(50): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0027 a0001c0001t0030 a0001c0001t0038 a0001c0001t0039 a0001c0001t0050 a0001c0001t0051 a0001c0001t0053 a0001c0001t0059 a0001c0001t0063 a0001c0003t0005 a0001c0003t0006 a0001c0003t0012 a0001c0003t0028 a0001c0003t0032 a0001c0003t0049 a0001c0003t0058 a0001c0003t0060 a0001c0004t0001 a0001c0004t0003 a0001c0004t0009 a0001c0004t0014 a0001c0004t0016 a0001c0004t0017 a0001c0004t0024 a0001c0004t0040 a0001c0004t0042 a0001c0004t0065 a0001c0005t0010 a0001c0005t0025 a0001c0009t0005 a0002c0002t0002 a0002c0002t0007 a0002c0002t0016 a0003c0007t0006 a0004c0008t0005 a0005c0010t0037 a0006c0019t0035	a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 others(109): Show a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0134 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0159 a0001c0001t0001g0292 a0001c0001t0002g0003 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0003g0076 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0123 a0001c0001t0003g0126 a0001c0001t0003g0131 a0001c0001t0003g0133 a0001c0001t0003g0135 a0001c0001t0003g0142 a0001c0001t0004g0226 a0001c0001t0004g0229 a0001c0001t0004g0288 a0001c0001t0004g0291 a0001c0001t0005g0092 a0001c0001t0005g0128 a0001c0001t0007g0230 a0001c0001t0008g0005 a0001c0001t0008g0013 a0001c0001t0009g0111 a0001c0001t0009g0148 a0001c0001t0012g0259 a0001c0001t0013g0058 a0001c0001t0013g0059 a0001c0001t0013g0060 a0001c0001t0014g0116 a0001c0001t0014g0120 a0001c0001t0014g0146 a0001c0001t0015g0264 a0001c0001t0016g0136 a0001c0001t0018g0090 a0001c0001t0018g0104 a0001c0001t0019g0119 a0001c0001t0020g0138 a0001c0001t0027g0263 a0001c0001t0030g0261 a0001c0001t0038g0189 a0001c0001t0039g0121 a0001c0001t0050g0101 a0001c0001t0051g0075 a0001c0001t0053g0250 a0001c0001t0059g0290 a0001c0001t0063g0232 a0001c0003t0005g0109 a0001c0003t0005g0122 a0001c0003t0005g0125 a0001c0003t0005g0132 a0001c0003t0006g0048 a0001c0003t0012g0258 a0001c0003t0012g0262 a0001c0003t0028g0249 a0001c0003t0032g0022 a0001c0003t0049g0077 a0001c0003t0058g0257 a0001c0003t0060g0267 a0001c0004t0001g0169 a0001c0004t0001g0176 a0001c0004t0001g0177 a0001c0004t0003g0094 a0001c0004t0003g0174 a0001c0004t0003g0175 a0001c0004t0009g0139 a0001c0004t0009g0170 a0001c0004t0009g0185 a0001c0004t0009g0207 a0001c0004t0009g0208 a0001c0004t0014g0137 a0001c0004t0016g0091 a0001c0004t0017g0105 a0001c0004t0017g0201 a0001c0004t0024g0178 a0001c0004t0024g0202 a0001c0004t0040g0206 a0001c0004t0042g0184 a0001c0004t0065g0284 a0001c0005t0010g0231 a0001c0005t0025g0097 a0001c0009t0005g0186 a0001c0009t0005g0204 a0002c0002t0002g0008 a0002c0002t0002g0046 a0002c0002t0007g0260 a0002c0002t0016g0114 a0003c0007t0006g0010 a0003c0007t0006g0063 a0004c0008t0005g0140 a0005c0010t0037g0167 a0006c0019t0035g0056	112	292	0.3836	-8	c.118 others(25): Show c.118-3916_118-3909delACACACAC	SPTLC3	ENSG00000172296.13	transcript	ENST00000399002.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
SPTLC3_chr20_13003972_13174103	13060377	GTTATTTA others(1): Show GTTATTTAT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(112): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01071.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01884.hp1 HG01975.hp2 HG02055.hp1 HG02071.hp1 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02155.hp2 HG02257.hp2 HG02280.hp1 HG02602.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02723.hp1 HG02809.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03239.hp2 HG03471.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp1 HG03669.hp2 HG04199.hp1 HG04199.hp2 NA18522.hp1 NA18747.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp2 NA18946.hp2 NA18948.hp1 NA18957.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp2 NA18964.hp2 NA18967.hp2 NA18968.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18977.hp2 NA18982.hp1 NA18982.hp2 NA18985.hp2 NA18986.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19011.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19060.hp2 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0001c0009 a0003c0007 a0004c0008 a0005c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(46): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0027 a0001c0001t0030 a0001c0001t0038 a0001c0001t0039 a0001c0001t0050 a0001c0001t0051 a0001c0001t0053 a0001c0001t0059 a0001c0001t0063 a0001c0003t0005 a0001c0003t0006 a0001c0003t0012 a0001c0003t0028 a0001c0003t0032 a0001c0003t0041 a0001c0003t0049 a0001c0003t0058 a0001c0003t0060 a0001c0004t0001 a0001c0004t0003 a0001c0004t0009 a0001c0004t0014 a0001c0004t0016 a0001c0004t0017 a0001c0004t0024 a0001c0004t0040 a0001c0004t0042 a0001c0004t0065 a0001c0009t0005 a0001c0009t0011 a0003c0007t0006 a0004c0008t0005 a0005c0010t0037	a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 others(112): Show a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0127 a0001c0001t0001g0134 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0292 a0001c0001t0002g0003 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0003g0076 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0123 a0001c0001t0003g0126 a0001c0001t0003g0131 a0001c0001t0003g0133 a0001c0001t0003g0135 a0001c0001t0003g0142 a0001c0001t0003g0157 a0001c0001t0004g0229 a0001c0001t0004g0238 a0001c0001t0004g0247 a0001c0001t0004g0288 a0001c0001t0004g0291 a0001c0001t0005g0092 a0001c0001t0007g0230 a0001c0001t0007g0237 a0001c0001t0007g0239 a0001c0001t0007g0241 a0001c0001t0007g0269 a0001c0001t0007g0270 a0001c0001t0008g0005 a0001c0001t0008g0013 a0001c0001t0009g0111 a0001c0001t0009g0148 a0001c0001t0012g0259 a0001c0001t0013g0058 a0001c0001t0013g0059 a0001c0001t0013g0060 a0001c0001t0014g0116 a0001c0001t0014g0120 a0001c0001t0014g0146 a0001c0001t0015g0264 a0001c0001t0016g0136 a0001c0001t0018g0090 a0001c0001t0018g0104 a0001c0001t0019g0119 a0001c0001t0020g0138 a0001c0001t0027g0263 a0001c0001t0027g0268 a0001c0001t0030g0261 a0001c0001t0038g0189 a0001c0001t0039g0121 a0001c0001t0050g0101 a0001c0001t0051g0075 a0001c0001t0053g0250 a0001c0001t0059g0290 a0001c0001t0063g0232 a0001c0003t0005g0109 a0001c0003t0005g0122 a0001c0003t0005g0125 a0001c0003t0005g0132 a0001c0003t0006g0048 a0001c0003t0012g0258 a0001c0003t0012g0262 a0001c0003t0028g0249 a0001c0003t0032g0022 a0001c0003t0041g0107 a0001c0003t0049g0077 a0001c0003t0058g0257 a0001c0003t0060g0267 a0001c0004t0001g0169 a0001c0004t0001g0176 a0001c0004t0001g0177 a0001c0004t0003g0094 a0001c0004t0003g0174 a0001c0004t0003g0175 a0001c0004t0009g0139 a0001c0004t0009g0170 a0001c0004t0009g0185 a0001c0004t0009g0207 a0001c0004t0009g0208 a0001c0004t0014g0137 a0001c0004t0016g0091 a0001c0004t0017g0105 a0001c0004t0017g0201 a0001c0004t0024g0178 a0001c0004t0024g0202 a0001c0004t0040g0206 a0001c0004t0042g0184 a0001c0004t0065g0284 a0001c0009t0005g0186 a0001c0009t0005g0204 a0001c0009t0011g0161 a0003c0007t0006g0010 a0004c0008t0005g0140 a0005c0010t0037g0167	115	292	0.3938	-8	c.303 others(27): Show c.303+11280_303+11287delTTATTTAT	SPTLC3	ENSG00000172296.13	transcript	ENST00000399002.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
SPTLC3_chr20_13003972_13174103	13067044	CATATATA others(1): Show CATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02622.hp1 HG02895.hp2 HG01255.hp2 HG02622.hp1 HG02895.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0001c0012 a0002c0002 a0001c0005 a0001c0012 a0002c0002	a0001c0005t0010 a0001c0012t0023 a0002c0002t0001 a0001c0005t0010 a0001c0012t0023 a0002c0002t0001	a0001c0005t0010g0231 a0001c0012t0023g0165 a0002c0002t0001g0199 a0001c0005t0010g0231 a0001c0012t0023g0165 a0002c0002t0001g0199	3	292	0.0103	-8	c.304 others(25): Show c.304-5161_304-5154delATATATAT	SPTLC3	ENSG00000172296.13	transcript	ENST00000399002.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
SPTSSA_chr14_34427788_34467240	34443134	GGTGTGTG others(1): Show GGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp2 HG02145.hp1 others(6): Show HG01884.hp2 HG02055.hp2 HG02145.hp1 HG02486.hp2 HG02818.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0015 a0001c0001t0025 others(2): Show a0001c0001t0009 a0001c0001t0015 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027	a0001c0001t0009g0325 a0001c0001t0009g0326 a0001c0001t0009g0327 others(6): Show a0001c0001t0009g0325 a0001c0001t0009g0326 a0001c0001t0009g0327 a0001c0001t0009g0328 a0001c0001t0015g0013 a0001c0001t0015g0316 a0001c0001t0025g0140 a0001c0001t0026g0329 a0001c0001t0027g0317	9	344	0.0262	-8	c.113 others(25): Show c.113-7838_113-7831delACACACAC	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding	1/1			chr14	TogoVar
SPTSSA_chr14_34427788_34467240	34462894	GCACACAC others(1): Show GCACACACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG00741.hp1 HG01106.hp2 others(20): Show HG00735.hp1 HG00741.hp1 HG01106.hp2 HG01167.hp1 HG01192.hp2 HG01934.hp1 HG01934.hp2 HG01978.hp2 HG01981.hp2 HG02717.hp1 HG03139.hp1 HG03195.hp1 HG03239.hp1 HG03490.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG04228.hp1 NA18964.hp1 NA18970.hp1 NA19000.hp1 NA19007.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0022 a0001c0003t0001 a0001c0001t0001 a0001c0001t0022 a0001c0003t0001	a0001c0001t0001g0006 a0001c0001t0001g0139 a0001c0001t0001g0141 others(20): Show a0001c0001t0001g0006 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0157 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0202 a0001c0001t0001g0242 a0001c0001t0001g0248 a0001c0001t0001g0280 a0001c0001t0001g0295 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0022g0323 a0001c0003t0001g0330 a0001c0003t0001g0331	23	344	0.0669	-8	c.-69 others(17): Show c.-695_-688delTGTGTGTG	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding		655		chr14	TogoVar
SPTSSA_chr14_34427788_34467240	34462934	ACACACAC others(1): Show ACACACACC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG01074.hp2 HG01081.hp2 others(12): Show HG00408.hp2 HG01074.hp2 HG01081.hp2 HG01928.hp2 HG02055.hp1 HG02451.hp2 HG02818.hp2 HG02922.hp2 HG03540.hp2 NA18941.hp1 NA18964.hp2 NA18967.hp2 NA18985.hp1 NA19002.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0010	a0001c0001t0001g0093 a0001c0001t0001g0117 a0001c0001t0001g0121 others(12): Show a0001c0001t0001g0093 a0001c0001t0001g0117 a0001c0001t0001g0121 a0001c0001t0002g0044 a0001c0001t0002g0071 a0001c0001t0002g0074 a0001c0001t0002g0077 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0003g0110 a0001c0001t0003g0112 a0001c0001t0003g0116 a0001c0001t0003g0127 a0001c0001t0009g0326 a0001c0001t0010g0036	15	344	0.0436	-8	c.-73 others(17): Show c.-735_-728delGGTGTGTG	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding		695		chr14	TogoVar
SPTSSA_chr14_34427788_34467240	34467217	AACACACA others(1): Show AACACACAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG01433.hp1 others(11): Show HG01256.hp1 HG01258.hp2 HG01433.hp1 HG01891.hp2 HG02559.hp2 HG02622.hp2 HG02647.hp1 HG02717.hp2 HG02809.hp2 HG02896.hp2 HG02976.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0023	a0001c0001t0001g0005 a0001c0001t0001g0018 a0001c0001t0001g0084 others(10): Show a0001c0001t0001g0005 a0001c0001t0001g0018 a0001c0001t0001g0084 a0001c0001t0001g0102 a0001c0001t0001g0117 a0001c0001t0001g0161 a0001c0001t0001g0197 a0001c0001t0001g0209 a0001c0001t0001g0298 a0001c0001t0003g0108 a0001c0001t0005g0027 a0001c0001t0006g0106 a0001c0001t0023g0083	14	344	0.0407	-8	c.-50 others(19): Show c.-5018_-5011delGTGTGTGT	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding		4978		chr14	TogoVar
SPTSSB_chr3_161339798_161376517	161369286	TTTTCTTT others(1): Show TTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02602.hp1 HG02723.hp1 others(1): Show HG02572.hp1 HG02602.hp1 HG02723.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0001 a0001c0001t0002 a0001c0001t0009	a0001c0001t0001g0039 a0001c0001t0002g0114 a0001c0001t0009g0058 a0001c0001t0001g0039 a0001c0001t0002g0114 a0001c0001t0009g0058	4	412	0.0097	-8	c.-12 others(27): Show c.-126+2141_-126+2148delGAAAGAAA	SPTSSB	ENSG00000196542.9	transcript	ENST00000620149.2	protein_coding	1/2			chr3	TogoVar
SQLE_chr8_124993505_125027283	125001482	GTGTGTGT others(1): Show GTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG00544.hp1 others(57): Show HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00609.hp1 HG00673.hp1 HG01074.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01258.hp1 HG01943.hp2 HG01952.hp2 HG01981.hp2 HG02004.hp1 HG02071.hp1 HG02132.hp1 HG02698.hp1 HG02976.hp1 HG03139.hp2 HG03654.hp1 HG03710.hp1 HG03942.hp2 HG04184.hp1 NA18941.hp2 NA18943.hp2 NA18946.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18952.hp1 NA18954.hp2 NA18956.hp1 NA18963.hp2 NA18968.hp1 NA18977.hp1 NA18978.hp2 NA18981.hp2 NA18982.hp2 NA18983.hp2 NA18986.hp1 NA18987.hp2 NA18988.hp1 NA18989.hp2 NA18992.hp1 NA19003.hp1 NA19010.hp1 NA19054.hp1 NA19056.hp2 NA19060.hp2 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19075.hp1 NA19080.hp1 NA19083.hp2 NA19084.hp2 NA19086.hp2 NA19088.hp2 NA19240.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0018 a0001c0001 a0009c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0009c0018t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(26): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0027 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0149 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0202 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0010g0203 a0009c0018t0001g0181	60	378	0.1587	-8	c.292 others(25): Show c.292-1692_292-1685delGTGTGTAT	SQLE	ENSG00000104549.12	transcript	ENST00000265896.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
SQOR_chr15_45630029_45696281	45632195	CCCCTCCC others(1): Show CCCCTCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02257.hp2 HG02280.hp2 others(2): Show HG02109.hp2 HG02257.hp2 HG02280.hp2 HG03225.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0314 a0001c0001t0003g0315 a0001c0001t0003g0317 others(2): Show a0001c0001t0003g0314 a0001c0001t0003g0315 a0001c0001t0003g0317 a0001c0001t0003g0318 a0001c0001t0007g0316	5	340	0.0147	-8	c.-29 others(19): Show c.-2930_-2923delCCCTCCCT	SQOR	ENSG00000137767.14	transcript	ENST00000260324.12	protein_coding		2833		chr15	TogoVar
SQSTM1_chr5_179815905_179843078	179843041	AGAAGGAA others(1): Show AGAAGGAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG02572.hp2 NA20300.hp2 HG01255.hp1 HG02572.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0190 a0001c0001t0001g0262 a0001c0001t0003g0139 a0001c0001t0001g0190 a0001c0001t0001g0262 a0001c0001t0003g0139	3	462	0.0065	-8	c.64 others(19): Show c.6449_*6456delGAAGGAAG	SQSTM1	ENSG00000161011.20	transcript	ENST00000389805.9	protein_coding		4964		chr5	TogoVar
SRBD1_chr2_45383680_45616267	45421506	CAAACAAA others(1): Show CAAACAAAA	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01891.hp2 HG02145.hp1 others(12): Show HG01069.hp2 HG01891.hp2 HG02145.hp1 HG02148.hp2 HG02572.hp1 HG02723.hp1 HG03017.hp1 NA18949.hp2 NA18991.hp1 NA18995.hp2 NA19004.hp2 NA19012.hp1 NA19062.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0004 others(1): Show a0001c0001 a0002c0002 a0002c0004 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0002c0004t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0004t0001 a0003c0003t0001	a0001c0001t0001g0054 a0001c0001t0001g0074 a0001c0001t0001g0075 others(12): Show a0001c0001t0001g0054 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0092 a0002c0002t0001g0015 a0002c0002t0001g0118 a0002c0004t0001g0078 a0003c0003t0001g0067 a0003c0003t0001g0122 a0003c0003t0001g0271 a0003c0003t0001g0279 a0003c0003t0001g0285 a0003c0003t0001g0290 a0003c0003t0001g0304 a0003c0003t0001g0309	15	358	0.0419	-8	c.205 others(27): Show c.2050-1620_2050-1613delTTTTGTTT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	16/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45432003	GTATTTAT others(1): Show GTATTTATT	G G	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02965.hp1 NA18949.hp1 HG02027.hp1 HG02965.hp1 NA18949.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0210 a0001c0001t0001g0227 a0002c0002t0001g0136 a0001c0001t0001g0210 a0001c0001t0001g0227 a0002c0002t0001g0136	3	358	0.0084	-8	c.205 others(29): Show c.2050-12117_2050-12110delAATAAATA	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	16/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45465000	TACACACA others(1): Show TACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01261.hp2 HG02257.hp2 others(2): Show HG00323.hp2 HG01261.hp2 HG02257.hp2 NA18983.hp1 NA19056.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0004 a0001c0001 a0002c0002 a0002c0004	a0001c0001t0001 a0001c0001t0006 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0006 a0002c0002t0001 a0002c0004t0001	a0001c0001t0001g0249 a0001c0001t0006g0357 a0002c0002t0001g0267 others(2): Show a0001c0001t0001g0249 a0001c0001t0006g0357 a0002c0002t0001g0267 a0002c0002t0001g0268 a0002c0004t0001g0213	5	358	0.0140	-8	c.204 others(29): Show c.2049+11985_2049+11992delGTGTGTGT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	16/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45509598	AACACACA others(1): Show AACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02572.hp1 HG02922.hp2 others(4): Show HG02486.hp2 HG02572.hp1 HG02922.hp2 HG03239.hp2 HG03453.hp1 HG06807.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0011	a0001c0014 a0002c0002 a0002c0004 others(3): Show a0001c0014 a0002c0002 a0002c0004 a0003c0003 a0006c0007 a0011c0011	a0001c0014t0001 a0002c0002t0001 a0002c0004t0001 others(3): Show a0001c0014t0001 a0002c0002t0001 a0002c0004t0001 a0003c0003t0001 a0006c0007t0001 a0011c0011t0001	a0001c0014t0001g0178 a0002c0002t0001g0020 a0002c0002t0001g0118 others(4): Show a0001c0014t0001g0178 a0002c0002t0001g0020 a0002c0002t0001g0118 a0002c0004t0001g0113 a0003c0003t0001g0122 a0006c0007t0001g0135 a0011c0011t0001g0117	7	358	0.0196	-8	c.187 others(29): Show c.1875-21275_1875-21268delGTGTGTGT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	14/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45521286	AACACACA others(1): Show AACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01168.hp1 HG01169.hp1 others(7): Show HG00738.hp1 HG01168.hp1 HG01169.hp1 HG01243.hp1 HG02622.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG03041.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 others(7): Show a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0205	10	358	0.0279	-8	c.187 others(29): Show c.1874+25438_1874+25445delGTGTGTGT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	14/20			chr2	TogoVar
SRCIN1_chr17_38525031_38610952	38590739	CTTAGCCC others(1): Show CTTAGCCCA	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp2 HG00639.hp1 others(76): Show HG00544.hp1 HG00558.hp2 HG00639.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01243.hp2 HG01257.hp2 HG01258.hp2 HG01891.hp2 HG02055.hp2 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02165.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp2 HG02698.hp2 HG02723.hp2 HG02738.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03654.hp2 HG03831.hp1 HG03942.hp1 HG04199.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA18949.hp1 NA18959.hp2 NA18965.hp1 NA19007.hp1 NA19043.hp1 NA19057.hp2 NA19063.hp1 NA19064.hp2 NA19067.hp1 NA19084.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA21309.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0015 a0016	a0001c0001 a0001c0002 a0001c0003 others(13): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0013 a0001c0016 a0001c0030 a0002c0004 a0003c0032 a0004c0012 a0015c0014 a0016c0033	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(31): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0001t0024 a0001c0001t0028 a0001c0001t0029 a0001c0001t0042 a0001c0001t0048 a0001c0001t0051 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0016 a0001c0002t0017 a0001c0002t0018 a0001c0002t0027 a0001c0002t0039 a0001c0003t0008 a0001c0006t0011 a0001c0006t0034 a0001c0007t0001 a0001c0008t0005 a0001c0008t0020 a0001c0008t0043 a0001c0009t0004 a0001c0010t0001 a0001c0013t0044 a0001c0016t0033 a0001c0030t0013 a0002c0004t0032 a0003c0032t0015 a0004c0012t0019 a0015c0014t0002 a0016c0033t0001	a0001c0001t0001g0155 a0001c0001t0001g0167 a0001c0001t0001g0168 others(70): Show a0001c0001t0001g0155 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0217 a0001c0001t0004g0006 a0001c0001t0004g0233 a0001c0001t0004g0234 a0001c0001t0004g0236 a0001c0001t0004g0237 a0001c0001t0004g0238 a0001c0001t0004g0239 a0001c0001t0009g0169 a0001c0001t0024g0142 a0001c0001t0028g0174 a0001c0001t0029g0121 a0001c0001t0042g0078 a0001c0001t0048g0240 a0001c0001t0051g0243 a0001c0002t0001g0135 a0001c0002t0001g0137 a0001c0002t0002g0004 a0001c0002t0002g0119 a0001c0002t0002g0134 a0001c0002t0002g0136 a0001c0002t0002g0139 a0001c0002t0002g0143 a0001c0002t0002g0145 a0001c0002t0002g0171 a0001c0002t0003g0120 a0001c0002t0003g0132 a0001c0002t0003g0138 a0001c0002t0003g0144 a0001c0002t0003g0148 a0001c0002t0003g0149 a0001c0002t0016g0140 a0001c0002t0017g0156 a0001c0002t0017g0157 a0001c0002t0018g0082 a0001c0002t0018g0141 a0001c0002t0027g0012 a0001c0002t0039g0170 a0001c0003t0008g0001 a0001c0003t0008g0163 a0001c0003t0008g0179 a0001c0003t0008g0180 a0001c0006t0011g0083 a0001c0006t0011g0110 a0001c0006t0011g0123 a0001c0006t0011g0178 a0001c0006t0034g0122 a0001c0007t0001g0005 a0001c0007t0001g0165 a0001c0007t0001g0166 a0001c0008t0005g0175 a0001c0008t0020g0008 a0001c0008t0043g0154 a0001c0009t0004g0221 a0001c0009t0004g0222 a0001c0009t0004g0223 a0001c0010t0001g0010 a0001c0010t0001g0011 a0001c0013t0044g0009 a0001c0016t0033g0118 a0001c0030t0013g0162 a0002c0004t0032g0235 a0003c0032t0015g0089 a0004c0012t0019g0241 a0004c0012t0019g0242 a0015c0014t0002g0147 a0016c0033t0001g0133	79	261	0.3027	-8	c.23- others(25): Show c.23-11956_23-11949delTGGGCTAA	SRCIN1	ENSG00000277363.5	transcript	ENST00000617146.5	protein_coding	1/18			chr17	TogoVar
SRCIN1_chr17_38525031_38610952	38596002	CGGAGAGC others(1): Show CGGAGAGCT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01884.hp2 HG02055.hp1 others(26): Show HG01192.hp1 HG01884.hp2 HG02055.hp1 HG02257.hp2 HG02258.hp2 HG02451.hp2 HG02486.hp2 HG02572.hp1 HG02647.hp1 HG02723.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp2 HG03098.hp2 HG03139.hp1 HG03209.hp2 HG03486.hp1 HG03579.hp2 HG03669.hp1 HG04115.hp2 HG04184.hp1 NA19043.hp1 NA20129.hp2 NA20300.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0001c0005 others(5): Show a0001c0001 a0001c0003 a0001c0005 a0001c0007 a0001c0016 a0001c0018 a0002c0004 a0004c0012	a0001c0001t0001 a0001c0001t0010 a0001c0001t0014 others(13): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0014 a0001c0001t0048 a0001c0003t0001 a0001c0003t0012 a0001c0003t0015 a0001c0005t0007 a0001c0005t0045 a0001c0005t0046 a0001c0007t0001 a0001c0016t0033 a0001c0018t0001 a0002c0004t0005 a0002c0004t0023 a0004c0012t0019	a0001c0001t0001g0125 a0001c0001t0010g0124 a0001c0001t0010g0127 others(25): Show a0001c0001t0001g0125 a0001c0001t0010g0124 a0001c0001t0010g0127 a0001c0001t0014g0074 a0001c0001t0014g0079 a0001c0001t0048g0240 a0001c0003t0001g0126 a0001c0003t0001g0129 a0001c0003t0001g0130 a0001c0003t0012g0164 a0001c0003t0015g0128 a0001c0005t0007g0225 a0001c0005t0007g0226 a0001c0005t0007g0227 a0001c0005t0007g0229 a0001c0005t0007g0230 a0001c0005t0007g0231 a0001c0005t0045g0228 a0001c0005t0046g0224 a0001c0007t0001g0005 a0001c0007t0001g0165 a0001c0007t0001g0166 a0001c0016t0033g0118 a0001c0018t0001g0081 a0002c0004t0005g0073 a0002c0004t0023g0117 a0004c0012t0019g0241 a0004c0012t0019g0242	29	261	0.1111	-8	c.22+ others(23): Show c.22+9674_22+9681delAGCTCTCC	SRCIN1	ENSG00000277363.5	transcript	ENST00000617146.5	protein_coding	1/18			chr17	TogoVar
SRC_chr20_37341140_37411050	37361826	GGTAGAGA others(1): Show GGTAGAGAT	G G	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01346.hp2 HG01361.hp1 others(2): Show HG01099.hp1 HG01346.hp2 HG01361.hp1 HG02809.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0024 a0001c0001t0038 others(1): Show a0001c0001t0001 a0001c0001t0024 a0001c0001t0038 a0001c0004t0049	a0001c0001t0001g0255 a0001c0001t0001g0277 a0001c0001t0024g0271 others(2): Show a0001c0001t0001g0255 a0001c0001t0001g0277 a0001c0001t0024g0271 a0001c0001t0038g0230 a0001c0004t0049g0263	5	282	0.0177	-8	c.-24 others(27): Show c.-246-3368_-246-3361delTAGAGATG	SRC	ENSG00000197122.13	transcript	ENST00000373578.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr20	TogoVar
SRC_chr20_37341140_37411050	37365319	AACACACA others(1): Show AACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00544.hp2 others(22): Show HG00140.hp1 HG00140.hp2 HG00544.hp2 HG00735.hp2 HG01106.hp2 HG01109.hp2 HG01175.hp1 HG01243.hp1 HG01361.hp2 HG01517.hp1 HG01517.hp2 HG01978.hp1 HG02015.hp1 HG02027.hp1 HG02698.hp2 HG02886.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp2 HG03490.hp1 HG03492.hp2 HG03540.hp2 NA19009.hp1 NA19043.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0019 a0001c0001t0021 a0001c0001t0038	a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 others(21): Show a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0055 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0078 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0151 a0001c0001t0001g0174 a0001c0001t0001g0239 a0001c0001t0001g0243 a0001c0001t0001g0254 a0001c0001t0005g0165 a0001c0001t0006g0236 a0001c0001t0019g0001 a0001c0001t0021g0129 a0001c0001t0038g0230	25	282	0.0887	-8	c.-17 others(23): Show c.-173+87_-173+94delACACACAC	SRC	ENSG00000197122.13	transcript	ENST00000373578.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr20	TogoVar
SRC_chr20_37341140_37411050	37373243	TACACACG others(1): Show TACACACGC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00609.hp1 others(87): Show HG00408.hp2 HG00438.hp1 HG00609.hp1 HG00642.hp1 HG01106.hp2 HG01255.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG02015.hp2 HG02027.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02109.hp1 HG02129.hp2 HG02148.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02647.hp1 HG02698.hp1 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03831.hp2 HG03927.hp1 NA18906.hp1 NA18906.hp2 NA18948.hp1 NA18962.hp1 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18982.hp2 NA18985.hp1 NA18994.hp1 NA19007.hp1 NA19009.hp2 NA19043.hp1 NA19043.hp2 NA19060.hp2 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19080.hp1 NA19085.hp1 NA19240.hp2 NA20129.hp2 NA20805.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0009 a0002c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(27): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0020 a0001c0001t0022 a0001c0001t0024 a0001c0001t0029 a0001c0001t0036 a0001c0001t0037 a0001c0001t0043 a0001c0001t0047 a0001c0001t0048 a0001c0001t0050 a0001c0001t0051 a0001c0002t0010 a0001c0003t0010 a0001c0003t0023 a0001c0004t0039 a0001c0004t0049 a0001c0009t0041 a0002c0008t0004	a0001c0001t0001g0016 a0001c0001t0001g0049 a0001c0001t0001g0050 others(86): Show a0001c0001t0001g0016 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0070 a0001c0001t0001g0081 a0001c0001t0001g0171 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0256 a0001c0001t0001g0264 a0001c0001t0002g0006 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0029 a0001c0001t0002g0044 a0001c0001t0002g0080 a0001c0001t0002g0145 a0001c0001t0002g0167 a0001c0001t0002g0178 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0216 a0001c0001t0002g0218 a0001c0001t0002g0275 a0001c0001t0004g0005 a0001c0001t0004g0103 a0001c0001t0004g0157 a0001c0001t0004g0201 a0001c0001t0004g0202 a0001c0001t0004g0204 a0001c0001t0004g0217 a0001c0001t0004g0219 a0001c0001t0004g0220 a0001c0001t0004g0260 a0001c0001t0004g0261 a0001c0001t0004g0268 a0001c0001t0004g0269 a0001c0001t0005g0073 a0001c0001t0005g0165 a0001c0001t0006g0008 a0001c0001t0006g0233 a0001c0001t0006g0234 a0001c0001t0006g0236 a0001c0001t0006g0241 a0001c0001t0009g0053 a0001c0001t0009g0194 a0001c0001t0009g0195 a0001c0001t0009g0267 a0001c0001t0011g0159 a0001c0001t0011g0248 a0001c0001t0011g0249 a0001c0001t0011g0250 a0001c0001t0012g0203 a0001c0001t0012g0205 a0001c0001t0012g0206 a0001c0001t0012g0207 a0001c0001t0013g0051 a0001c0001t0013g0072 a0001c0001t0013g0226 a0001c0001t0014g0138 a0001c0001t0014g0139 a0001c0001t0015g0017 a0001c0001t0015g0192 a0001c0001t0016g0057 a0001c0001t0016g0058 a0001c0001t0020g0043 a0001c0001t0020g0227 a0001c0001t0022g0272 a0001c0001t0024g0271 a0001c0001t0029g0176 a0001c0001t0036g0251 a0001c0001t0037g0166 a0001c0001t0043g0235 a0001c0001t0047g0238 a0001c0001t0048g0168 a0001c0001t0050g0191 a0001c0001t0051g0056 a0001c0002t0010g0009 a0001c0002t0010g0010 a0001c0003t0010g0222 a0001c0003t0023g0265 a0001c0004t0039g0237 a0001c0004t0049g0263 a0001c0009t0041g0011 a0002c0008t0004g0187	90	282	0.3192	-8	c.-17 others(27): Show c.-173+7973_-173+7980delGCACACAC	SRC	ENSG00000197122.13	transcript	ENST00000373578.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr20	TogoVar
SRD5A2_chr2_31517480_31585938	31554924	CGTGTGTG others(1): Show CGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00597.hp2 others(37): Show HG00408.hp1 HG00423.hp1 HG00597.hp2 HG00621.hp2 HG01081.hp2 HG01978.hp1 HG01993.hp1 HG02071.hp1 HG02071.hp2 HG02165.hp1 HG02273.hp1 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG03225.hp1 HG03491.hp2 NA18612.hp1 NA18939.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp2 NA18962.hp2 NA18973.hp1 NA18981.hp2 NA18986.hp2 NA18994.hp2 NA18998.hp1 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19009.hp1 NA19010.hp2 NA19068.hp2 NA19072.hp2 NA19077.hp2 NA19083.hp2 NA19085.hp2 NA19090.hp2 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0021 a0002c0002t0001 a0001c0001t0001 a0001c0001t0021 a0002c0002t0001	a0001c0001t0001g0004 a0001c0001t0001g0180 a0001c0001t0001g0181 others(35): Show a0001c0001t0001g0004 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0001g0212 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0021g0233 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0049 a0002c0002t0001g0101 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0113 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0123 a0002c0002t0001g0124	40	386	0.1036	-8	c.282 others(27): Show c.282-21166_282-21159delACACACAC	SRD5A2	ENSG00000277893.2	transcript	ENST00000622030.2	protein_coding	1/4			chr2	TogoVar
SRD5A2_chr2_31517480_31585938	31559836	CCACACAC others(1): Show CCACACACA	C C	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01891.hp1 HG02818.hp1 HG01361.hp2 HG01891.hp1 HG02818.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0032 a0002c0002t0001 a0001c0001t0001 a0001c0001t0032 a0002c0002t0001	a0001c0001t0001g0196 a0001c0001t0032g0284 a0002c0002t0001g0102 a0001c0001t0001g0196 a0001c0001t0032g0284 a0002c0002t0001g0102	3	386	0.0078	-8	c.281 others(27): Show c.281+20776_281+20783delTGTGTGTG	SRD5A2	ENSG00000277893.2	transcript	ENST00000622030.2	protein_coding	1/4			chr2	TogoVar
SRD5A3_chr4_55341242_55378100	55343115	CAAAAAAA others(1): Show CAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00438.hp1 HG00597.hp2 others(39): Show HG00323.hp2 HG00438.hp1 HG00597.hp2 HG00621.hp2 HG00673.hp1 HG01099.hp2 HG01123.hp2 HG01168.hp1 HG01175.hp1 HG01175.hp2 HG01256.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01884.hp2 HG01981.hp1 HG02055.hp1 HG02165.hp2 HG02280.hp2 HG02615.hp1 HG02717.hp1 HG02897.hp2 HG03471.hp2 HG03579.hp1 HG03688.hp1 HG04115.hp1 NA18906.hp1 NA18939.hp2 NA18950.hp1 NA18952.hp1 NA18964.hp2 NA18978.hp1 NA18979.hp1 NA18982.hp2 NA18994.hp1 NA19030.hp2 NA19065.hp1 NA19079.hp2 NA19090.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0021 a0001c0001t0022 a0001c0001t0030 a0001c0001t0033 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0069 a0001c0001t0070 a0004c0005t0001	a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0013 others(36): Show a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0172 a0001c0001t0001g0178 a0001c0001t0002g0192 a0001c0001t0002g0249 a0001c0001t0002g0271 a0001c0001t0003g0059 a0001c0001t0004g0052 a0001c0001t0005g0047 a0001c0001t0006g0173 a0001c0001t0006g0176 a0001c0001t0006g0177 a0001c0001t0007g0232 a0001c0001t0007g0263 a0001c0001t0008g0002 a0001c0001t0008g0019 a0001c0001t0008g0140 a0001c0001t0011g0021 a0001c0001t0011g0085 a0001c0001t0011g0086 a0001c0001t0013g0054 a0001c0001t0015g0009 a0001c0001t0015g0219 a0001c0001t0017g0016 a0001c0001t0021g0134 a0001c0001t0022g0117 a0001c0001t0030g0222 a0001c0001t0033g0037 a0001c0001t0050g0049 a0001c0001t0051g0048 a0001c0001t0052g0122 a0001c0001t0069g0037 a0001c0001t0070g0227 a0004c0005t0001g0166	42	384	0.1094	-8	c.-32 others(19): Show c.-3221_-3214delAAAAAAAA	SRD5A3	ENSG00000128039.13	transcript	ENST00000264228.9	protein_coding		3126		chr4	TogoVar

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