Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SPTLC2_chr14_77500997_77621637	77584796	G G	GACACACA others(1): Show GACACACAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02486.hp2 HG02630.hp1 others(8): Show HG02109.hp2 HG02486.hp2 HG02630.hp1 HG02717.hp1 HG02717.hp2 HG02895.hp1 HG02970.hp1 HG03225.hp1 HG03471.hp2 HG03516.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005	a0001c0001t0003 a0001c0002t0007 a0001c0002t0019 others(3): Show a0001c0001t0003 a0001c0002t0007 a0001c0002t0019 a0001c0002t0051 a0001c0004t0004 a0001c0005t0007	a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0002t0007g0236 others(8): Show a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0002t0007g0236 a0001c0002t0007g0238 a0001c0002t0007g0239 a0001c0002t0007g0240 a0001c0002t0007g0241 a0001c0002t0019g0235 a0001c0002t0051g0244 a0001c0004t0004g0190 a0001c0005t0007g0242	11	246	0.0447	8	c.328 others(25): Show c.328-5695_328-5688dupGTGTGTGT	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	2/11			chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77589789	C C	CCACACAC others(1): Show CCACACACA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02559.hp1 HG02717.hp2 HG02071.hp1 HG02559.hp1 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 a0001c0001 a0001c0004 a0001c0005	a0001c0001t0035 a0001c0004t0004 a0001c0005t0037 a0001c0001t0035 a0001c0004t0004 a0001c0005t0037	a0001c0001t0035g0123 a0001c0004t0004g0190 a0001c0005t0037g0055 a0001c0001t0035g0123 a0001c0004t0004g0190 a0001c0005t0037g0055	3	246	0.0122	8	c.327 others(25): Show c.327+7389_327+7396dupTGTGTGTG	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	2/11			chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77591692	C C	CTGTATGT others(1): Show CTGTATGTA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02818.hp2 HG03209.hp1 others(1): Show HG01891.hp1 HG02818.hp2 HG03209.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0006 a0001c0002t0010 a0001c0003t0001 a0001c0002t0006 a0001c0002t0010 a0001c0003t0001	a0001c0002t0006g0115 a0001c0002t0010g0066 a0001c0002t0010g0067 others(1): Show a0001c0002t0006g0115 a0001c0002t0010g0066 a0001c0002t0010g0067 a0001c0003t0001g0021	4	246	0.0163	8	c.327 others(25): Show c.327+5486_327+5493dupTACATACA	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	2/11			chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77591730	G G	GTATGTAT others(1): Show GTATGTATT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02451.hp2 HG02559.hp1 others(8): Show HG01358.hp2 HG02451.hp2 HG02559.hp1 HG02723.hp1 HG02976.hp1 HG03098.hp1 HG03195.hp1 HG03654.hp1 HG03710.hp1 HG04199.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0001c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0046 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0003t0001 a0001c0003t0017 a0001c0005t0037 a0001c0012t0004	a0001c0001t0001g0130 a0001c0001t0003g0065 a0001c0001t0046g0233 others(8): Show a0001c0001t0001g0130 a0001c0001t0003g0065 a0001c0001t0046g0233 a0001c0001t0047g0231 a0001c0001t0048g0234 a0001c0001t0049g0232 a0001c0003t0001g0012 a0001c0003t0001g0014 a0001c0003t0017g0064 a0001c0005t0037g0055 a0001c0012t0004g0230	11	246	0.0447	8	c.327 others(25): Show c.327+5455_327+5456insAATACATA	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	2/11			chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77591730	G G	GTATTTAT others(1): Show GTATTTATT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01168.hp2 others(12): Show HG01069.hp1 HG01071.hp2 HG01168.hp2 HG01256.hp2 HG01258.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG03540.hp2 HG03834.hp1 HG04115.hp1 HG04228.hp1 NA19043.hp1 NA20129.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 a0001c0001t0024 a0001c0001t0040 a0001c0002t0002	a0001c0001t0001g0035 a0001c0001t0001g0229 a0001c0001t0003g0221 others(12): Show a0001c0001t0001g0035 a0001c0001t0001g0229 a0001c0001t0003g0221 a0001c0001t0003g0226 a0001c0001t0004g0005 a0001c0001t0004g0006 a0001c0001t0004g0007 a0001c0001t0004g0008 a0001c0001t0004g0228 a0001c0001t0005g0223 a0001c0001t0012g0225 a0001c0001t0012g0227 a0001c0001t0024g0220 a0001c0001t0040g0222 a0001c0002t0002g0224	15	246	0.0610	8	c.327 others(25): Show c.327+5448_327+5455dupAATAAATA	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	2/11			chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77596510	T T	TAAATAAA others(1): Show TAAATAAAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp2 HG00558.hp2 others(40): Show HG00280.hp1 HG00438.hp2 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG01106.hp1 HG01346.hp1 HG01516.hp1 HG01978.hp1 HG02083.hp2 HG02293.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp2 HG03041.hp1 HG03195.hp1 HG03195.hp2 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 NA18945.hp2 NA18946.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 NA19087.hp2 NA19091.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0014 a0001c0001t0016 a0001c0001t0024 a0001c0001t0034 a0001c0001t0036 a0001c0002t0005 a0001c0002t0020 a0001c0002t0029 a0001c0003t0017 a0001c0004t0004 a0001c0006t0018 a0002c0007t0001	a0001c0001t0001g0023 a0001c0001t0001g0068 a0001c0001t0001g0070 others(40): Show a0001c0001t0001g0023 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0002g0072 a0001c0001t0003g0065 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0189 a0001c0001t0004g0017 a0001c0001t0005g0074 a0001c0001t0009g0085 a0001c0001t0009g0086 a0001c0001t0014g0100 a0001c0001t0016g0069 a0001c0001t0024g0220 a0001c0001t0034g0091 a0001c0001t0036g0084 a0001c0002t0005g0187 a0001c0002t0005g0188 a0001c0002t0020g0002 a0001c0002t0029g0186 a0001c0003t0017g0064 a0001c0004t0004g0190 a0001c0006t0018g0018 a0002c0007t0001g0081	43	246	0.1748	8	c.327 others(23): Show c.327+675_327+676insGTTTATTT	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	2/11			chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77606373	C C	CTGTGTGT others(1): Show CTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02071.hp1 HG03540.hp2 HG01934.hp2 HG02071.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0024 a0001c0001t0035 a0001c0002t0001 a0001c0001t0024 a0001c0001t0035 a0001c0002t0001	a0001c0001t0024g0220 a0001c0001t0035g0123 a0001c0002t0001g0104 a0001c0001t0024g0220 a0001c0001t0035g0123 a0001c0002t0001g0104	3	246	0.0122	8	c.133 others(25): Show c.133-9001_133-8994dupCACACACA	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	1/11			chr14	TogoVar
SPTLC3_chr20_13003972_13174103	13060377	G G	GTTATTTA others(1): Show GTTATTTAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03139.hp1 NA18961.hp1 HG02723.hp2 HG03139.hp1 NA18961.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0002c0002 a0001c0005 a0002c0002	a0001c0005t0009 a0001c0005t0048 a0002c0002t0002 a0001c0005t0009 a0001c0005t0048 a0002c0002t0002	a0001c0005t0009g0151 a0001c0005t0048g0164 a0002c0002t0002g0030 a0001c0005t0009g0151 a0001c0005t0048g0164 a0002c0002t0002g0030	3	292	0.0103	8	c.303 others(27): Show c.303+11280_303+11287dupTTATTTAT	SPTLC3	ENSG00000172296.13	transcript	ENST00000399002.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
SPTLC3_chr20_13003972_13174103	13063637	T T	TTTTATTT others(1): Show TTTTATTTA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00609.hp1 HG00741.hp1 others(63): Show HG00438.hp1 HG00609.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01243.hp1 HG01516.hp1 HG01891.hp2 HG01952.hp2 HG01978.hp1 HG02015.hp2 HG02055.hp2 HG02056.hp1 HG02074.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02258.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02602.hp2 HG02630.hp1 HG02647.hp2 HG02738.hp1 HG02809.hp2 HG03195.hp1 HG03209.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03654.hp2 HG03669.hp1 HG03831.hp2 HG04115.hp2 HG04228.hp2 NA18522.hp2 NA18943.hp2 NA18944.hp2 NA18946.hp1 NA18949.hp1 NA18954.hp1 NA18956.hp1 NA18959.hp1 NA18961.hp2 NA18973.hp2 NA18990.hp1 NA19000.hp1 NA19012.hp1 NA19030.hp2 NA19062.hp2 NA19063.hp1 NA19066.hp1 NA19070.hp1 NA19077.hp2 NA19086.hp2 NA19089.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA21309.hp2	a0001 a0004 a0007 others(1): Show a0001 a0004 a0007 a0009	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0004c0008 a0007c0016 a0009c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 a0001c0001t0015 a0001c0001t0019 a0001c0001t0033 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0003t0005 a0001c0003t0006 a0001c0003t0010 a0001c0003t0011 a0001c0003t0012 a0001c0003t0029 a0001c0003t0049 a0001c0004t0017 a0004c0008t0028 a0007c0016t0064 a0009c0015t0002	a0001c0001t0001g0173 a0001c0001t0001g0181 a0001c0001t0001g0182 others(63): Show a0001c0001t0001g0173 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0203 a0001c0001t0001g0211 a0001c0001t0002g0011 a0001c0001t0002g0015 a0001c0001t0002g0021 a0001c0001t0002g0032 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0067 a0001c0001t0003g0070 a0001c0001t0003g0072 a0001c0001t0003g0076 a0001c0001t0003g0180 a0001c0001t0004g0219 a0001c0001t0004g0222 a0001c0001t0004g0233 a0001c0001t0004g0234 a0001c0001t0004g0243 a0001c0001t0004g0251 a0001c0001t0004g0266 a0001c0001t0004g0273 a0001c0001t0007g0216 a0001c0001t0007g0221 a0001c0001t0007g0228 a0001c0001t0007g0252 a0001c0001t0010g0215 a0001c0001t0010g0220 a0001c0001t0015g0218 a0001c0001t0015g0224 a0001c0001t0015g0256 a0001c0001t0019g0053 a0001c0001t0019g0160 a0001c0001t0033g0045 a0001c0001t0054g0286 a0001c0001t0055g0287 a0001c0001t0056g0253 a0001c0001t0057g0281 a0001c0003t0005g0168 a0001c0003t0006g0040 a0001c0003t0010g0236 a0001c0003t0010g0271 a0001c0003t0010g0272 a0001c0003t0010g0277 a0001c0003t0010g0282 a0001c0003t0010g0289 a0001c0003t0011g0082 a0001c0003t0011g0152 a0001c0003t0011g0153 a0001c0003t0011g0154 a0001c0003t0011g0155 a0001c0003t0011g0162 a0001c0003t0012g0223 a0001c0003t0012g0245 a0001c0003t0012g0262 a0001c0003t0029g0275 a0001c0003t0029g0283 a0001c0003t0049g0077 a0001c0004t0017g0205 a0004c0008t0028g0276 a0007c0016t0064g0248 a0009c0015t0002g0050	66	292	0.2260	8	c.304 others(25): Show c.304-8595_304-8588dupATTTATTT	SPTLC3	ENSG00000172296.13	transcript	ENST00000399002.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
SPTSSA_chr14_34427788_34467240	34443355	A A	AGTGTGTG others(1): Show AGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp1 HG01346.hp1 others(25): Show HG00140.hp2 HG00438.hp1 HG01346.hp1 HG01346.hp2 HG01891.hp1 HG02015.hp2 HG02074.hp2 HG02572.hp2 HG02896.hp2 HG02922.hp1 HG02976.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03486.hp1 HG03669.hp1 HG03710.hp2 NA18974.hp1 NA18994.hp1 NA18999.hp1 NA18999.hp2 NA19055.hp1 NA19056.hp2 NA19086.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0016 a0001c0001t0021 a0001c0003t0001	a0001c0001t0001g0102 a0001c0001t0001g0129 a0001c0001t0001g0161 others(25): Show a0001c0001t0001g0102 a0001c0001t0001g0129 a0001c0001t0001g0161 a0001c0001t0001g0179 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0226 a0001c0001t0001g0256 a0001c0001t0002g0034 a0001c0001t0002g0047 a0001c0001t0002g0053 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0075 a0001c0001t0002g0196 a0001c0001t0002g0288 a0001c0001t0003g0108 a0001c0001t0003g0115 a0001c0001t0003g0126 a0001c0001t0016g0024 a0001c0001t0021g0320 a0001c0003t0001g0330 a0001c0003t0001g0331	28	344	0.0814	8	c.113 others(25): Show c.113-8059_113-8052dupACACACAC	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding	1/1			chr14	TogoVar
SPTSSA_chr14_34427788_34467240	34443506	G G	GGTGTGTG others(1): Show GGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00741.hp2 HG01167.hp2 others(12): Show HG00280.hp1 HG00741.hp2 HG01167.hp2 HG01243.hp1 HG01256.hp2 HG01358.hp1 HG01934.hp1 HG02148.hp2 HG02615.hp1 HG02698.hp1 HG03225.hp1 HG03225.hp2 NA18522.hp1 NA20752.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0109 a0001c0001t0001g0143 a0001c0001t0001g0174 others(12): Show a0001c0001t0001g0109 a0001c0001t0001g0143 a0001c0001t0001g0174 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0275 a0001c0001t0001g0287 a0001c0001t0001g0289 a0001c0001t0013g0322	15	344	0.0436	8	c.113 others(25): Show c.113-8210_113-8203dupACACACAC	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding	1/1			chr14	TogoVar
SQLE_chr8_124993505_125027283	125001449	G G	GGTGTGTG others(1): Show GGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01109.hp1 HG02257.hp1 others(6): Show HG00140.hp2 HG01109.hp1 HG02257.hp1 HG02717.hp2 HG03669.hp1 NA18943.hp1 NA18949.hp2 NA19043.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0001 a0001c0001t0004 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0003 a0001c0009t0001	a0001c0001t0001g0046 a0001c0001t0001g0083 a0001c0001t0001g0144 others(5): Show a0001c0001t0001g0046 a0001c0001t0001g0083 a0001c0001t0001g0144 a0001c0001t0004g0084 a0001c0001t0004g0085 a0001c0002t0003g0081 a0001c0002t0003g0082 a0001c0009t0001g0145	9	378	0.0238	8	c.292 others(25): Show c.292-1694_292-1687dupGTGTGTGT	SQLE	ENSG00000104549.12	transcript	ENST00000265896.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
SQLE_chr8_124993505_125027283	125025833	G G	GACACACA others(1): Show GACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp2 NA20300.hp1 others(1): Show HG01069.hp1 HG01071.hp2 NA20300.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0003t0001 a0001c0001t0004 a0001c0003t0001	a0001c0001t0004g0020 a0001c0001t0004g0103 a0001c0003t0001g0029 a0001c0001t0004g0020 a0001c0001t0004g0103 a0001c0003t0001g0029	4	378	0.0106	8	c.38 others(19): Show c.3888_*3889insACACACAC	SQLE	ENSG00000104549.12	transcript	ENST00000265896.10	protein_coding		3551		chr8	TogoVar
SQOR_chr15_45630029_45696281	45634198	C C	CTATATAT others(1): Show CTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG03453.hp2 NA18993.hp1 others(1): Show HG02055.hp2 HG03453.hp2 NA18993.hp1 NA19000.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0097 a0001c0001t0001g0228 a0001c0001t0002g0107 others(1): Show a0001c0001t0001g0097 a0001c0001t0001g0228 a0001c0001t0002g0107 a0002c0002t0001g0239	4	340	0.0118	8	c.-92 others(17): Show c.-928_-927insTATATATA	SQOR	ENSG00000137767.14	transcript	ENST00000260324.12	protein_coding		830		chr15	TogoVar
SQOR_chr15_45630029_45696281	45667028	C C	CCCTCCCT others(1): Show CCCTCCCTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03486.hp2 HG03669.hp2 HG02809.hp2 HG03486.hp2 HG03669.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0001 a0005c0008t0001 a0001c0001t0001 a0005c0008t0001	a0001c0001t0001g0261 a0005c0008t0001g0164 a0005c0008t0001g0231 a0001c0001t0001g0261 a0005c0008t0001g0164 a0005c0008t0001g0231	3	340	0.0088	8	c.406 others(25): Show c.406-2897_406-2896insCCCTTCCT	SQOR	ENSG00000137767.14	transcript	ENST00000260324.12	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SQSTM1_chr5_179815905_179843078	179818012	C C	CAAAAAAA others(1): Show CAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG01884.hp2 HG01981.hp1 others(4): Show HG00408.hp2 HG01884.hp2 HG01981.hp1 HG02451.hp2 NA18954.hp1 NA18999.hp1 NA19087.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0013 a0001c0001 a0005c0013	a0001c0001t0001 a0001c0001t0003 a0005c0013t0001 a0001c0001t0001 a0001c0001t0003 a0005c0013t0001	a0001c0001t0001g0133 a0001c0001t0001g0165 a0001c0001t0001g0168 others(4): Show a0001c0001t0001g0133 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0293 a0001c0001t0001g0358 a0001c0001t0003g0345 a0005c0013t0001g0163	7	462	0.0152	8	c.-29 others(19): Show c.-2925_-2924insAAAAAAAA	SQSTM1	ENSG00000161011.20	transcript	ENST00000389805.9	protein_coding		2892		chr5	TogoVar
SQSTM1_chr5_179815905_179843078	179834407	T T	TTTTATTT others(1): Show TTTTATTTA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01074.hp1 HG01081.hp2 others(11): Show HG00733.hp2 HG01074.hp1 HG01081.hp2 HG01106.hp2 HG02572.hp2 HG02698.hp1 HG03195.hp1 HG03209.hp1 HG03453.hp1 NA18522.hp1 NA19030.hp2 NA19043.hp2 NA20752.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0003 a0001c0001t0011 a0001c0002t0005 others(2): Show a0001c0001t0003 a0001c0001t0011 a0001c0002t0005 a0001c0003t0003 a0001c0003t0005	a0001c0001t0003g0042 a0001c0001t0003g0050 a0001c0001t0003g0104 others(11): Show a0001c0001t0003g0042 a0001c0001t0003g0050 a0001c0001t0003g0104 a0001c0001t0003g0139 a0001c0001t0003g0166 a0001c0001t0003g0186 a0001c0001t0003g0342 a0001c0001t0011g0105 a0001c0001t0011g0106 a0001c0002t0005g0049 a0001c0003t0003g0140 a0001c0003t0003g0156 a0001c0003t0003g0157 a0001c0003t0005g0047	14	462	0.0303	8	c.116 others(25): Show c.1165+628_1165+629insATTTATTT	SQSTM1	ENSG00000161011.20	transcript	ENST00000389805.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
SRBD1_chr2_45383680_45616267	45414419	C C	CACATATA others(1): Show CACATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00423.hp2 others(84): Show HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00558.hp1 HG00597.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01109.hp1 HG01255.hp1 HG01261.hp2 HG01943.hp2 HG02027.hp2 HG02109.hp2 HG02129.hp2 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02300.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp2 HG02683.hp2 HG02717.hp2 HG02809.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03516.hp1 HG03579.hp1 HG03704.hp1 HG03942.hp2 HG04199.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18941.hp2 NA18945.hp2 NA18947.hp2 NA18951.hp1 NA18953.hp1 NA18954.hp1 NA18956.hp1 NA18957.hp2 NA18959.hp2 NA18961.hp1 NA18962.hp2 NA18971.hp2 NA18986.hp1 NA18995.hp1 NA19000.hp1 NA19002.hp1 NA19005.hp2 NA19030.hp1 NA19043.hp1 NA19056.hp1 NA19074.hp1 NA19077.hp2 NA19088.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0010 a0011	a0001c0014 a0002c0002 a0002c0004 others(6): Show a0001c0014 a0002c0002 a0002c0004 a0002c0008 a0002c0010 a0002c0016 a0006c0007 a0010c0009 a0011c0011	a0001c0014t0001 a0002c0002t0001 a0002c0002t0005 others(7): Show a0001c0014t0001 a0002c0002t0001 a0002c0002t0005 a0002c0004t0001 a0002c0008t0001 a0002c0010t0001 a0002c0016t0001 a0006c0007t0001 a0010c0009t0001 a0011c0011t0001	a0001c0014t0001g0178 a0002c0002t0001g0003 a0002c0002t0001g0005 others(84): Show a0001c0014t0001g0178 a0002c0002t0001g0003 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0023 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0093 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0179 a0002c0002t0001g0230 a0002c0002t0001g0239 a0002c0002t0001g0257 a0002c0002t0001g0262 a0002c0002t0001g0267 a0002c0002t0001g0268 a0002c0002t0001g0324 a0002c0002t0001g0334 a0002c0002t0001g0335 a0002c0002t0001g0336 a0002c0002t0001g0337 a0002c0002t0001g0338 a0002c0002t0001g0339 a0002c0002t0001g0346 a0002c0002t0005g0022 a0002c0004t0001g0076 a0002c0004t0001g0078 a0002c0004t0001g0079 a0002c0004t0001g0106 a0002c0004t0001g0107 a0002c0004t0001g0109 a0002c0004t0001g0110 a0002c0004t0001g0111 a0002c0004t0001g0113 a0002c0004t0001g0115 a0002c0004t0001g0213 a0002c0004t0001g0214 a0002c0004t0001g0215 a0002c0004t0001g0216 a0002c0004t0001g0217 a0002c0004t0001g0228 a0002c0004t0001g0232 a0002c0004t0001g0251 a0002c0008t0001g0123 a0002c0010t0001g0177 a0002c0016t0001g0024 a0006c0007t0001g0128 a0006c0007t0001g0135 a0010c0009t0001g0108 a0011c0011t0001g0117	87	358	0.2430	8	c.233 others(27): Show c.2334-1134_2334-1127dupATATATGT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	18/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45428573	A A	AATAAATA others(1): Show AATAAATAC	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01978.hp1 HG01993.hp1 others(33): Show HG01975.hp1 HG01978.hp1 HG01993.hp1 HG02004.hp2 HG02015.hp1 HG02071.hp1 HG02129.hp1 HG02148.hp2 HG03017.hp1 HG03942.hp2 NA18940.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18948.hp1 NA18949.hp2 NA18950.hp2 NA18953.hp2 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18959.hp1 NA18983.hp2 NA18987.hp1 NA18989.hp2 NA18991.hp1 NA18994.hp2 NA18995.hp2 NA19004.hp2 NA19007.hp2 NA19012.hp1 NA19062.hp1 NA19068.hp1 NA19086.hp2 NA19088.hp1 NA20752.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0013	a0001c0001 a0002c0004 a0003c0003 others(1): Show a0001c0001 a0002c0004 a0003c0003 a0013c0017	a0001c0001t0001 a0002c0004t0001 a0003c0003t0001 others(1): Show a0001c0001t0001 a0002c0004t0001 a0003c0003t0001 a0013c0017t0001	a0001c0001t0001g0264 a0002c0004t0001g0076 a0002c0004t0001g0078 others(33): Show a0001c0001t0001g0264 a0002c0004t0001g0076 a0002c0004t0001g0078 a0002c0004t0001g0079 a0003c0003t0001g0004 a0003c0003t0001g0055 a0003c0003t0001g0056 a0003c0003t0001g0057 a0003c0003t0001g0058 a0003c0003t0001g0059 a0003c0003t0001g0060 a0003c0003t0001g0061 a0003c0003t0001g0062 a0003c0003t0001g0063 a0003c0003t0001g0065 a0003c0003t0001g0066 a0003c0003t0001g0067 a0003c0003t0001g0068 a0003c0003t0001g0069 a0003c0003t0001g0070 a0003c0003t0001g0071 a0003c0003t0001g0114 a0003c0003t0001g0271 a0003c0003t0001g0279 a0003c0003t0001g0282 a0003c0003t0001g0284 a0003c0003t0001g0285 a0003c0003t0001g0290 a0003c0003t0001g0294 a0003c0003t0001g0297 a0003c0003t0001g0299 a0003c0003t0001g0300 a0003c0003t0001g0303 a0003c0003t0001g0304 a0003c0003t0001g0309 a0013c0017t0001g0305	36	358	0.1006	8	c.205 others(27): Show c.2050-8680_2050-8679insGTATTTAT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	16/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45432003	G G	GTATTTAT others(1): Show GTATTTATT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00544.hp2 others(78): Show HG00140.hp2 HG00323.hp2 HG00544.hp2 HG00558.hp1 HG00639.hp1 HG01069.hp2 HG01074.hp1 HG01167.hp2 HG01261.hp2 HG01433.hp2 HG01496.hp1 HG01943.hp2 HG01981.hp1 HG02015.hp2 HG02040.hp1 HG02071.hp2 HG02080.hp1 HG02257.hp1 HG02257.hp2 HG02559.hp2 HG02602.hp2 HG02622.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp2 HG03195.hp1 HG03225.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp2 HG03704.hp2 HG03834.hp1 HG04199.hp1 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp1 NA18942.hp1 NA18945.hp2 NA18963.hp1 NA18963.hp2 NA18971.hp1 NA18973.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18984.hp1 NA18987.hp2 NA18991.hp2 NA18992.hp1 NA18994.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19002.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19075.hp2 NA19082.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20905.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0011 a0012	a0001c0001 a0001c0005 a0002c0002 others(6): Show a0001c0001 a0001c0005 a0002c0002 a0002c0004 a0002c0010 a0002c0016 a0003c0003 a0011c0011 a0012c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0005t0001 a0002c0002t0001 a0002c0002t0005 a0002c0004t0001 a0002c0010t0001 a0002c0016t0001 a0003c0003t0001 a0003c0003t0004 a0011c0011t0001 a0012c0012t0001	a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0031 others(78): Show a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0053 a0001c0001t0001g0073 a0001c0001t0001g0116 a0001c0001t0001g0134 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0163 a0001c0001t0001g0168 a0001c0001t0001g0175 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0219 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0318 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0341 a0001c0001t0001g0348 a0001c0001t0002g0133 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0244 a0001c0005t0001g0140 a0001c0005t0001g0141 a0001c0005t0001g0142 a0001c0005t0001g0143 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0015 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0089 a0002c0002t0001g0096 a0002c0002t0001g0103 a0002c0002t0001g0262 a0002c0002t0001g0267 a0002c0002t0001g0268 a0002c0002t0001g0336 a0002c0002t0005g0022 a0002c0004t0001g0251 a0002c0010t0001g0177 a0002c0016t0001g0024 a0003c0003t0001g0112 a0003c0003t0001g0272 a0003c0003t0001g0276 a0003c0003t0001g0281 a0003c0003t0001g0301 a0003c0003t0001g0302 a0003c0003t0004g0298 a0011c0011t0001g0117 a0012c0012t0001g0162	81	358	0.2263	8	c.205 others(29): Show c.2050-12117_2050-12110dupAATAAATA	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	16/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45465046	C C	CACACACA others(1): Show CACACACAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00558.hp1 HG01346.hp2 others(6): Show HG00423.hp1 HG00558.hp1 HG01346.hp2 HG02027.hp2 HG02129.hp2 NA18995.hp1 NA19000.hp1 NA19056.hp2 NA19240.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0007c0015	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0007c0015t0001	a0001c0001t0001g0204 a0002c0002t0001g0099 a0002c0002t0001g0335 others(6): Show a0001c0001t0001g0204 a0002c0002t0001g0099 a0002c0002t0001g0335 a0002c0002t0001g0336 a0002c0002t0001g0338 a0002c0002t0001g0346 a0003c0003t0001g0269 a0003c0003t0001g0280 a0007c0015t0001g0343	9	358	0.0251	8	c.204 others(29): Show c.2049+11946_2049+11947insATGTGTGT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	16/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45509598	A A	AACACACA others(1): Show AACACACAC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01069.hp2 HG02004.hp2 others(8): Show HG00741.hp1 HG01069.hp2 HG02004.hp2 HG02071.hp1 HG02129.hp1 HG02738.hp1 HG03225.hp1 NA18948.hp2 NA18955.hp1 NA20905.hp1 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0027 a0001c0001t0001g0075 a0001c0001t0001g0224 others(8): Show a0001c0001t0001g0027 a0001c0001t0001g0075 a0001c0001t0001g0224 a0001c0001t0001g0246 a0001c0001t0001g0333 a0001c0001t0003g0124 a0002c0002t0001g0013 a0002c0002t0001g0015 a0003c0003t0001g0071 a0003c0003t0001g0284 a0003c0003t0001g0300	11	358	0.0307	8	c.187 others(29): Show c.1875-21275_1875-21268dupGTGTGTGT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	14/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45521286	A A	AACACACA others(1): Show AACACACAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00423.hp2 others(30): Show HG00323.hp1 HG00323.hp2 HG00423.hp2 HG00558.hp1 HG00735.hp2 HG01255.hp1 HG01261.hp2 HG01346.hp1 HG01515.hp1 HG01517.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp2 HG02027.hp2 HG02129.hp2 HG02148.hp1 HG02300.hp1 HG02683.hp2 HG03704.hp1 HG03834.hp2 HG04228.hp2 NA18941.hp2 NA18945.hp2 NA18947.hp2 NA18951.hp1 NA18953.hp1 NA18959.hp2 NA18961.hp1 NA18995.hp1 NA19000.hp1 NA19074.hp1 NA19077.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0250 others(30): Show a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0250 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0261 a0001c0001t0001g0265 a0001c0001t0001g0278 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0088 a0002c0002t0001g0090 a0002c0002t0001g0096 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0105 a0002c0002t0001g0262 a0002c0002t0001g0267 a0002c0002t0001g0268 a0002c0002t0001g0324 a0002c0002t0001g0334 a0002c0002t0001g0335 a0002c0002t0001g0336 a0002c0002t0001g0337 a0002c0002t0001g0338 a0002c0002t0001g0339 a0002c0002t0001g0346	33	358	0.0922	8	c.187 others(29): Show c.1874+25438_1874+25445dupGTGTGTGT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	14/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45545283	T T	TAAAAAAA others(1): Show TAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01074.hp1 HG02602.hp1 others(13): Show HG00673.hp1 HG01074.hp1 HG02602.hp1 HG02615.hp2 HG02647.hp1 HG02809.hp2 HG02895.hp2 HG02922.hp2 HG02976.hp1 HG03098.hp2 HG03471.hp1 HG03540.hp2 HG03942.hp2 HG06807.hp1 NA19030.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0014 a0002c0002 others(1): Show a0001c0001 a0001c0014 a0002c0002 a0002c0004	a0001c0001t0001 a0001c0014t0001 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0014t0001 a0002c0002t0001 a0002c0004t0001	a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 others(13): Show a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0014t0001g0178 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0012 a0002c0002t0001g0014 a0002c0002t0001g0020 a0002c0002t0001g0087 a0002c0002t0001g0179 a0002c0004t0001g0079	16	358	0.0447	8	c.187 others(27): Show c.1874+1441_1874+1448dupTTTTTTTT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	14/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45545315	A A	AAAAAAAA others(1): Show AAAAAAAAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp1 HG00597.hp2 others(11): Show HG00408.hp1 HG00558.hp1 HG00597.hp2 HG02027.hp2 HG02129.hp2 HG02300.hp1 NA18951.hp1 NA18954.hp1 NA18957.hp2 NA18962.hp2 NA18971.hp2 NA19056.hp1 NA19074.hp1 NA19088.hp2	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0001 a0002c0004t0001 a0002c0002t0001 a0002c0004t0001	a0002c0002t0001g0081 a0002c0002t0001g0085 a0002c0002t0001g0088 others(11): Show a0002c0002t0001g0081 a0002c0002t0001g0085 a0002c0002t0001g0088 a0002c0002t0001g0091 a0002c0002t0001g0093 a0002c0002t0001g0334 a0002c0002t0001g0335 a0002c0002t0001g0336 a0002c0002t0001g0338 a0002c0004t0001g0213 a0002c0004t0001g0214 a0002c0004t0001g0215 a0002c0004t0001g0217 a0002c0004t0001g0232	14	358	0.0391	8	c.187 others(27): Show c.1874+1416_1874+1417insGTTTTTTT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	14/20			chr2	TogoVar
SRCIN1_chr17_38525031_38610952	38540772	T T	TGTGTGAG others(1): Show TGTGTGAGA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02559.hp1 HG02886.hp2 others(6): Show HG02055.hp2 HG02559.hp1 HG02886.hp2 HG02976.hp1 HG03098.hp1 HG03453.hp1 NA18522.hp1 NA19240.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0051 a0001c0001t0004 a0001c0001t0051	a0001c0001t0004g0006 a0001c0001t0004g0233 a0001c0001t0004g0234 others(5): Show a0001c0001t0004g0006 a0001c0001t0004g0233 a0001c0001t0004g0234 a0001c0001t0004g0236 a0001c0001t0004g0237 a0001c0001t0004g0238 a0001c0001t0004g0239 a0001c0001t0051g0243	9	261	0.0345	8	c.341 others(27): Show c.3417+3050_3417+3051insTCTCACAC	SRCIN1	ENSG00000277363.5	transcript	ENST00000617146.5	protein_coding	18/18			chr17	TogoVar
SRCIN1_chr17_38525031_38610952	38566866	T T	TTTCCTTC others(1): Show TTTCCTTCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00544.hp1 HG00558.hp2 others(46): Show HG00099.hp1 HG00544.hp1 HG00558.hp2 HG00609.hp1 HG00733.hp1 HG00735.hp1 HG01106.hp2 HG01167.hp1 HG01169.hp2 HG01255.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01952.hp1 HG02074.hp2 HG02109.hp2 HG02135.hp1 HG02155.hp2 HG02165.hp2 HG02622.hp1 HG02647.hp1 HG02698.hp1 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG03017.hp2 HG03225.hp2 HG03453.hp2 HG03669.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp1 NA18906.hp1 NA18981.hp1 NA18983.hp1 NA19057.hp1 NA19057.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19240.hp2 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2	a0001 a0005 a0008 others(1): Show a0001 a0005 a0008 a0011	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0011 a0001c0030 a0005c0022 a0008c0019 a0011c0021	a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 others(15): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0002t0002 a0001c0002t0003 a0001c0002t0018 a0001c0003t0001 a0001c0003t0015 a0001c0003t0040 a0001c0005t0007 a0001c0006t0011 a0001c0006t0034 a0001c0011t0050 a0001c0030t0013 a0005c0022t0001 a0008c0019t0001 a0011c0021t0001	a0001c0001t0001g0014 a0001c0001t0001g0061 a0001c0001t0001g0062 others(45): Show a0001c0001t0001g0014 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0076 a0001c0001t0001g0090 a0001c0001t0001g0095 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0155 a0001c0001t0001g0168 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0201 a0001c0001t0001g0207 a0001c0001t0001g0211 a0001c0001t0001g0217 a0001c0001t0006g0247 a0001c0001t0006g0249 a0001c0001t0006g0251 a0001c0001t0009g0003 a0001c0001t0009g0075 a0001c0001t0009g0169 a0001c0001t0010g0111 a0001c0001t0010g0115 a0001c0001t0010g0116 a0001c0001t0010g0124 a0001c0001t0010g0127 a0001c0002t0002g0096 a0001c0002t0003g0091 a0001c0002t0018g0082 a0001c0003t0001g0126 a0001c0003t0001g0129 a0001c0003t0001g0130 a0001c0003t0001g0198 a0001c0003t0015g0128 a0001c0003t0040g0131 a0001c0005t0007g0229 a0001c0006t0011g0110 a0001c0006t0011g0178 a0001c0006t0034g0122 a0001c0011t0050g0213 a0001c0030t0013g0162 a0005c0022t0001g0098 a0008c0019t0001g0039 a0011c0021t0001g0046	49	261	0.1877	8	c.345 others(25): Show c.345+1337_345+1344dupGGAAGGAA	SRCIN1	ENSG00000277363.5	transcript	ENST00000617146.5	protein_coding	3/18			chr17	TogoVar
SRC_chr20_37341140_37411050	37360218	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01255.hp1 HG01891.hp1 others(12): Show HG01109.hp1 HG01255.hp1 HG01891.hp1 HG02055.hp1 HG02055.hp2 HG02145.hp2 HG02615.hp2 HG02818.hp2 HG02965.hp2 HG02976.hp1 HG03130.hp2 HG03225.hp1 HG03453.hp1 HG03540.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0032 a0001c0001t0035 a0001c0001t0036 a0001c0001t0038	a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 others(12): Show a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0174 a0001c0001t0001g0256 a0001c0001t0002g0029 a0001c0001t0003g0018 a0001c0001t0003g0041 a0001c0001t0009g0045 a0001c0001t0032g0019 a0001c0001t0035g0193 a0001c0001t0036g0251 a0001c0001t0038g0230	15	282	0.0532	8	c.-24 others(27): Show c.-246-4973_-246-4966dupTTTTTTTT	SRC	ENSG00000197122.13	transcript	ENST00000373578.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr20	TogoVar
SRD5A1_chr5_6628440_6679386	6654430	T T	TTTTGTTT others(1): Show TTTTGTTTG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp1 HG02109.hp1 others(9): Show HG01891.hp1 HG02055.hp1 HG02109.hp1 HG02280.hp1 HG02615.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG03209.hp2 HG03225.hp1 HG03486.hp2 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0045 a0001c0002t0046 a0001c0002t0062 others(7): Show a0001c0002t0045 a0001c0002t0046 a0001c0002t0062 a0001c0002t0063 a0001c0002t0106 a0001c0002t0107 a0001c0002t0108 a0001c0002t0109 a0001c0002t0110 a0001c0002t0111	a0001c0002t0045g0013 a0001c0002t0046g0021 a0001c0002t0062g0188 others(7): Show a0001c0002t0045g0013 a0001c0002t0046g0021 a0001c0002t0062g0188 a0001c0002t0063g0187 a0001c0002t0106g0205 a0001c0002t0107g0013 a0001c0002t0108g0013 a0001c0002t0109g0206 a0001c0002t0110g0013 a0001c0002t0111g0021	12	406	0.0296	8	c.461 others(25): Show c.461-1645_461-1644insGTTTGTTT	SRD5A1	ENSG00000145545.13	transcript	ENST00000274192.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
SRD5A1_chr5_6628440_6679386	6654434	T T	TTTTGTTT others(1): Show TTTTGTTTG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01243.hp1 HG01891.hp2 others(26): Show HG01074.hp2 HG01243.hp1 HG01891.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02698.hp2 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp2 HG02896.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03834.hp2 HG04199.hp2 NA18522.hp1 NA20300.hp1 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0001c0004 a0004c0009 a0001c0002 a0001c0004 a0004c0009	a0001c0002t0001 a0001c0002t0003 a0001c0002t0014 others(18): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0014 a0001c0002t0021 a0001c0002t0028 a0001c0002t0029 a0001c0002t0042 a0001c0002t0043 a0001c0002t0076 a0001c0002t0077 a0001c0002t0078 a0001c0002t0081 a0001c0002t0091 a0001c0002t0093 a0001c0002t0099 a0001c0004t0015 a0001c0004t0048 a0001c0004t0049 a0001c0004t0050 a0001c0004t0113 a0004c0009t0030	a0001c0002t0001g0093 a0001c0002t0003g0099 a0001c0002t0014g0017 others(23): Show a0001c0002t0001g0093 a0001c0002t0003g0099 a0001c0002t0014g0017 a0001c0002t0014g0094 a0001c0002t0014g0097 a0001c0002t0021g0015 a0001c0002t0028g0015 a0001c0002t0028g0098 a0001c0002t0029g0095 a0001c0002t0042g0017 a0001c0002t0043g0017 a0001c0002t0076g0255 a0001c0002t0077g0256 a0001c0002t0078g0254 a0001c0002t0081g0015 a0001c0002t0091g0089 a0001c0002t0093g0092 a0001c0002t0099g0096 a0001c0004t0015g0043 a0001c0004t0015g0044 a0001c0004t0015g0195 a0001c0004t0048g0194 a0001c0004t0049g0197 a0001c0004t0050g0198 a0001c0004t0113g0086 a0004c0009t0030g0196	29	406	0.0714	8	c.461 others(25): Show c.461-1632_461-1625dupGTTTGTTT	SRD5A1	ENSG00000145545.13	transcript	ENST00000274192.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
SRD5A1_chr5_6628440_6679386	6678039	T T	TTCCATTC others(1): Show TTCCATTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp1 HG01975.hp2 HG02615.hp1 others(3): Show HG01515.hp1 HG01975.hp2 HG02615.hp1 HG02735.hp2 HG03225.hp2 HG03688.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0038 a0001c0002t0055 a0001c0003t0042 others(2): Show a0001c0002t0038 a0001c0002t0055 a0001c0003t0042 a0001c0003t0090 a0001c0003t0100	a0001c0002t0038g0249 a0001c0002t0038g0250 a0001c0002t0055g0252 others(3): Show a0001c0002t0038g0249 a0001c0002t0038g0250 a0001c0002t0055g0252 a0001c0003t0042g0202 a0001c0003t0090g0022 a0001c0003t0100g0208	6	406	0.0148	8	c.97 others(19): Show c.9771_*9772insTCCATTCC	SRD5A1	ENSG00000145545.13	transcript	ENST00000274192.7	protein_coding		3654		chr5	TogoVar
SRD5A2_chr2_31517480_31585938	31554924	C C	CGTGTGTG others(1): Show CGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01433.hp2 HG01069.hp2 HG01071.hp1 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0141 a0001c0001t0001g0148 a0001c0001t0002g0309 a0001c0001t0001g0141 a0001c0001t0001g0148 a0001c0001t0002g0309	3	386	0.0078	8	c.282 others(27): Show c.282-21166_282-21159dupACACACAC	SRD5A2	ENSG00000277893.2	transcript	ENST00000622030.2	protein_coding	1/4			chr2	TogoVar
SRD5A2_chr2_31517480_31585938	31559836	C C	CAACACAC others(1): Show CAACACACA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02622.hp2 HG02965.hp2 others(1): Show HG00738.hp2 HG02622.hp2 HG02965.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0169 a0001c0001t0001g0307 a0001c0001t0001g0308 others(1): Show a0001c0001t0001g0169 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0004g0132	4	386	0.0104	8	c.281 others(27): Show c.281+20783_281+20784insTGTGTGTT	SRD5A2	ENSG00000277893.2	transcript	ENST00000622030.2	protein_coding	1/4			chr2	TogoVar
SRD5A2_chr2_31517480_31585938	31567454	G G	GTATATAT others(1): Show GTATATATA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG01516.hp1 others(3): Show HG01257.hp2 HG01258.hp2 HG01516.hp1 HG02257.hp1 HG03540.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 others(3): Show a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0002g0332 a0001c0001t0002g0341 a0001c0001t0002g0342	6	386	0.0155	8	c.281 others(27): Show c.281+13165_281+13166insTATATATA	SRD5A2	ENSG00000277893.2	transcript	ENST00000622030.2	protein_coding	1/4			chr2	TogoVar
SRD5A2_chr2_31517480_31585938	31567456	G G	GTGTATAT others(1): Show GTGTATATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00408.hp2 others(142): Show HG00099.hp1 HG00140.hp2 HG00408.hp2 HG00438.hp2 HG00597.hp2 HG00621.hp2 HG00673.hp2 HG00735.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01243.hp1 HG01255.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp2 HG01884.hp1 HG01928.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02040.hp1 HG02071.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02148.hp2 HG02165.hp1 HG02257.hp2 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02523.hp1 HG02559.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02895.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03017.hp2 HG03098.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03471.hp2 HG03490.hp1 HG03491.hp1 HG03516.hp2 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03834.hp2 HG03927.hp1 HG04199.hp1 HG04228.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp2 NA18940.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18962.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp2 NA18973.hp1 NA18975.hp1 NA18977.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp2 NA18993.hp1 NA18995.hp2 NA18997.hp1 NA18998.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp2 NA19005.hp1 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19043.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19064.hp2 NA19068.hp2 NA19070.hp1 NA19072.hp2 NA19077.hp2 NA19083.hp1 NA19084.hp1 NA19085.hp2 NA19087.hp2 NA19091.hp2 NA19240.hp1 NA20300.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0006	a0001c0001 a0002c0002 a0003c0004 others(2): Show a0001c0001 a0002c0002 a0003c0004 a0005c0008 a0006c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0018 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0018 a0001c0001t0021 a0001c0001t0025 a0001c0001t0027 a0001c0001t0031 a0002c0002t0001 a0003c0004t0001 a0003c0004t0026 a0005c0008t0001 a0006c0006t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(127): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0003g0001 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0018g0197 a0001c0001t0021g0233 a0001c0001t0025g0249 a0001c0001t0027g0268 a0001c0001t0031g0345 a0002c0002t0001g0024 a0002c0002t0001g0125 a0003c0004t0001g0006 a0003c0004t0026g0021 a0005c0008t0001g0265 a0006c0006t0001g0022	145	386	0.3757	8	c.281 others(27): Show c.281+13163_281+13164insTATATACA	SRD5A2	ENSG00000277893.2	transcript	ENST00000622030.2	protein_coding	1/4			chr2	TogoVar
SRD5A3_chr4_55341242_55378100	55370431	T T	TCACACAC others(1): Show TCACACACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01167.hp1 HG01243.hp2 HG01891.hp2 others(7): Show HG01167.hp1 HG01243.hp2 HG01891.hp2 HG02486.hp2 HG02886.hp1 HG03130.hp1 HG03139.hp1 HG03486.hp2 NA18522.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0056 a0001c0001t0057 others(3): Show a0001c0001t0016 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0067	a0001c0001t0016g0215 a0001c0001t0016g0216 a0001c0001t0016g0217 others(7): Show a0001c0001t0016g0215 a0001c0001t0016g0216 a0001c0001t0016g0217 a0001c0001t0016g0224 a0001c0001t0016g0225 a0001c0001t0056g0269 a0001c0001t0057g0040 a0001c0001t0058g0035 a0001c0001t0059g0198 a0001c0001t0067g0091	10	384	0.0260	8	c.37 others(17): Show c.375_*382dupCACACACA	SRD5A3	ENSG00000128039.13	transcript	ENST00000264228.9	protein_coding	5/5	383	INFO_REALIGN_3_PRIME	chr4	TogoVar
SREBF1_chr17_17806334_17841986	17821152	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01243.hp1 HG01243.hp2 others(19): Show HG01106.hp2 HG01243.hp1 HG01243.hp2 HG01891.hp1 HG02109.hp1 HG02145.hp1 HG02273.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp2 HG02647.hp2 HG02809.hp2 HG02922.hp1 HG03139.hp2 HG03209.hp1 HG03486.hp1 HG03516.hp2 NA18522.hp2 NA18906.hp2 NA18998.hp1 NA19043.hp2 NA19240.hp1	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0016	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0003c0005 a0005c0008 a0016c0021	a0001c0001t0002 a0001c0002t0005 a0001c0002t0023 others(6): Show a0001c0001t0002 a0001c0002t0005 a0001c0002t0023 a0001c0004t0013 a0001c0004t0022 a0001c0004t0035 a0003c0005t0012 a0005c0008t0005 a0016c0021t0005	a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0048 others(18): Show a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0048 a0001c0001t0002g0053 a0001c0002t0005g0016 a0001c0002t0005g0135 a0001c0002t0005g0137 a0001c0002t0005g0140 a0001c0002t0005g0175 a0001c0002t0023g0141 a0001c0002t0023g0142 a0001c0004t0013g0295 a0001c0004t0022g0132 a0001c0004t0035g0261 a0003c0005t0012g0270 a0003c0005t0012g0271 a0003c0005t0012g0273 a0003c0005t0012g0274 a0005c0008t0005g0136 a0005c0008t0005g0139 a0016c0021t0005g0138	22	352	0.0625	8	c.92- others(21): Show c.92-639_92-632dupGTGTGTGT	SREBF1	ENSG00000072310.18	transcript	ENST00000261646.11	protein_coding	1/18			chr17	TogoVar
SREBF1_chr17_17806334_17841986	17834025	C C	CAGAGAGA others(1): Show CAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02257.hp1 HG02717.hp2 HG01934.hp1 HG02257.hp1 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0027 a0001c0004t0020 a0001c0001t0027 a0001c0004t0020	a0001c0001t0027g0080 a0001c0004t0020g0078 a0001c0004t0020g0079 a0001c0001t0027g0080 a0001c0004t0020g0078 a0001c0004t0020g0079	3	352	0.0085	8	c.91+ others(23): Show c.91+2701_91+2702insCTCTCTCT	SREBF1	ENSG00000072310.18	transcript	ENST00000261646.11	protein_coding	1/18			chr17	TogoVar
SREBF2_chr22_41828105_41912305	41844033	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00323.hp2 others(14): Show HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00741.hp2 HG01175.hp2 HG01243.hp2 HG01358.hp2 HG01891.hp2 HG02258.hp1 HG03453.hp1 HG03834.hp2 HG03942.hp2 HG04204.hp2 HG06807.hp1 NA18995.hp2 NA18999.hp2 NA19062.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0010	a0001c0001 a0002c0002 a0002c0005 others(2): Show a0001c0001 a0002c0002 a0002c0005 a0006c0013 a0010c0021	a0001c0001t0001 a0002c0002t0002 a0002c0002t0003 others(4): Show a0001c0001t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0009 a0002c0005t0016 a0006c0013t0003 a0010c0021t0001	a0001c0001t0001g0094 a0001c0001t0001g0270 a0001c0001t0001g0298 others(14): Show a0001c0001t0001g0094 a0001c0001t0001g0270 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0311 a0002c0002t0002g0062 a0002c0002t0002g0067 a0002c0002t0002g0090 a0002c0002t0002g0092 a0002c0002t0003g0065 a0002c0002t0009g0324 a0002c0005t0016g0251 a0006c0013t0003g0066 a0010c0021t0001g0093	17	336	0.0506	8	c.88+ others(25): Show c.88+10700_88+10707dupACACACAC	SREBF2	ENSG00000198911.13	transcript	ENST00000361204.9	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
SREBF2_chr22_41828105_41912305	41844065	C C	CACACACA others(1): Show CACACACAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00621.hp2 others(45): Show HG00408.hp2 HG00423.hp2 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG01081.hp1 HG01496.hp2 HG01891.hp1 HG02004.hp1 HG02280.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp2 HG02809.hp2 HG02896.hp1 HG02897.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03453.hp2 HG03540.hp2 NA18906.hp2 NA18946.hp1 NA18951.hp2 NA18952.hp1 NA18959.hp1 NA18967.hp2 NA18975.hp1 NA18977.hp1 NA18979.hp2 NA18981.hp2 NA18994.hp1 NA19000.hp1 NA19010.hp2 NA19043.hp2 NA19062.hp1 NA19068.hp1 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA20300.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0011	a0001c0001 a0002c0002 a0002c0005 others(5): Show a0001c0001 a0002c0002 a0002c0005 a0002c0029 a0003c0003 a0004c0004 a0006c0013 a0011c0016	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(14): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0013 a0002c0002t0021 a0002c0005t0006 a0002c0005t0007 a0002c0029t0001 a0003c0003t0004 a0004c0004t0003 a0004c0004t0010 a0006c0013t0001 a0011c0016t0004	a0001c0001t0001g0005 a0001c0001t0003g0010 a0001c0001t0005g0018 others(45): Show a0001c0001t0001g0005 a0001c0001t0003g0010 a0001c0001t0005g0018 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0038 a0002c0002t0001g0120 a0002c0002t0001g0138 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0157 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0002g0047 a0002c0002t0002g0108 a0002c0002t0002g0163 a0002c0002t0003g0055 a0002c0002t0003g0056 a0002c0002t0003g0057 a0002c0002t0003g0058 a0002c0002t0003g0059 a0002c0002t0005g0014 a0002c0002t0005g0015 a0002c0002t0005g0016 a0002c0002t0005g0017 a0002c0002t0005g0019 a0002c0002t0013g0054 a0002c0002t0021g0011 a0002c0005t0006g0249 a0002c0005t0007g0247 a0002c0005t0007g0250 a0002c0005t0007g0252 a0002c0029t0001g0139 a0003c0003t0004g0116 a0003c0003t0004g0137 a0003c0003t0004g0140 a0004c0004t0003g0004 a0004c0004t0010g0044 a0004c0004t0010g0045 a0004c0004t0010g0046 a0006c0013t0001g0136 a0011c0016t0004g0141	48	336	0.1429	8	c.88+ others(25): Show c.88+10707_88+10708insACACACAT	SREBF2	ENSG00000198911.13	transcript	ENST00000361204.9	protein_coding	1/18			chr22	TogoVar
SREBF2_chr22_41828105_41912305	41849940	C C	CATCAGGA others(1): Show CATCAGGAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp2 others(144): Show HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01070.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01496.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01943.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02258.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02897.hp1 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03471.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03579.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18942.hp1 NA18945.hp1 NA18946.hp1 NA18951.hp2 NA18952.hp1 NA18959.hp1 NA18961.hp1 NA18962.hp1 NA18965.hp2 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18984.hp2 NA18986.hp2 NA18988.hp2 NA18990.hp2 NA18991.hp2 NA18994.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19010.hp2 NA19030.hp2 NA19043.hp2 NA19057.hp2 NA19060.hp1 NA19062.hp1 NA19068.hp1 NA19074.hp1 NA19081.hp1 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0005 a0006 a0007 a0009 a0010 a0011	a0001c0001 a0002c0002 a0002c0005 others(13): Show a0001c0001 a0002c0002 a0002c0005 a0002c0017 a0002c0018 a0002c0020 a0002c0029 a0003c0003 a0003c0010 a0003c0019 a0005c0006 a0006c0013 a0007c0008 a0009c0015 a0010c0021 a0011c0016	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(24): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0021 a0002c0005t0006 a0002c0005t0007 a0002c0005t0016 a0002c0017t0002 a0002c0018t0002 a0002c0020t0004 a0002c0029t0001 a0003c0003t0004 a0003c0010t0001 a0003c0010t0022 a0003c0019t0004 a0005c0006t0004 a0006c0013t0001 a0006c0013t0003 a0007c0008t0003 a0009c0015t0006 a0010c0021t0001 a0011c0016t0004	a0001c0001t0001g0005 a0001c0001t0001g0070 a0001c0001t0001g0094 others(142): Show a0001c0001t0001g0005 a0001c0001t0001g0070 a0001c0001t0001g0094 a0001c0001t0003g0010 a0001c0001t0005g0018 a0001c0001t0008g0112 a0001c0001t0008g0243 a0001c0001t0008g0244 a0002c0002t0001g0002 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0118 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0127 a0002c0002t0001g0129 a0002c0002t0001g0131 a0002c0002t0001g0138 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0146 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0002g0001 a0002c0002t0002g0009 a0002c0002t0002g0025 a0002c0002t0002g0027 a0002c0002t0002g0028 a0002c0002t0002g0036 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0002g0117 a0002c0002t0002g0147 a0002c0002t0002g0148 a0002c0002t0002g0149 a0002c0002t0002g0163 a0002c0002t0003g0024 a0002c0002t0003g0026 a0002c0002t0003g0052 a0002c0002t0003g0053 a0002c0002t0003g0065 a0002c0002t0003g0076 a0002c0002t0003g0109 a0002c0002t0005g0014 a0002c0002t0005g0015 a0002c0002t0005g0016 a0002c0002t0005g0017 a0002c0002t0005g0019 a0002c0002t0005g0020 a0002c0002t0005g0021 a0002c0002t0021g0011 a0002c0005t0006g0013 a0002c0005t0006g0249 a0002c0005t0007g0012 a0002c0005t0007g0246 a0002c0005t0007g0247 a0002c0005t0007g0248 a0002c0005t0007g0250 a0002c0005t0007g0252 a0002c0005t0016g0251 a0002c0017t0002g0069 a0002c0018t0002g0083 a0002c0020t0004g0159 a0002c0029t0001g0139 a0003c0003t0004g0097 a0003c0003t0004g0105 a0003c0003t0004g0116 a0003c0003t0004g0122 a0003c0003t0004g0123 a0003c0003t0004g0125 a0003c0003t0004g0128 a0003c0003t0004g0130 a0003c0003t0004g0134 a0003c0003t0004g0135 a0003c0003t0004g0137 a0003c0003t0004g0140 a0003c0003t0004g0158 a0003c0003t0004g0164 a0003c0010t0001g0145 a0003c0010t0022g0022 a0003c0019t0004g0041 a0005c0006t0004g0119 a0005c0006t0004g0124 a0005c0006t0004g0132 a0005c0006t0004g0133 a0006c0013t0001g0136 a0006c0013t0003g0066 a0007c0008t0003g0113 a0007c0008t0003g0114 a0007c0008t0003g0115 a0009c0015t0006g0023 a0010c0021t0001g0093 a0011c0016t0004g0141	147	336	0.4375	8	c.88+ others(25): Show c.88+16585_88+16586insAGGAGATC	SREBF2	ENSG00000198911.13	transcript	ENST00000361204.9	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
SREBF2_chr22_41828105_41912305	41864223	C C	CATATATA others(1): Show CATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00544.hp1 others(28): Show HG00280.hp1 HG00408.hp1 HG00544.hp1 HG00673.hp2 HG00738.hp2 HG00741.hp1 HG01081.hp2 HG01099.hp2 HG01261.hp2 HG01496.hp2 HG01884.hp2 HG02080.hp2 HG02258.hp2 HG02615.hp1 HG02717.hp2 HG02735.hp2 HG02818.hp1 HG03486.hp1 HG03927.hp1 HG04115.hp1 NA18747.hp1 NA18939.hp2 NA18948.hp2 NA18949.hp2 NA18953.hp1 NA18971.hp1 NA18971.hp2 NA18985.hp2 NA18990.hp1 NA19057.hp1 NA19070.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0011 a0001c0027 others(2): Show a0001c0001 a0001c0011 a0001c0027 a0002c0009 a0005c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0020 a0001c0011t0001 a0001c0027t0001 a0002c0009t0002 a0005c0006t0004	a0001c0001t0001g0070 a0001c0001t0001g0190 a0001c0001t0001g0205 others(28): Show a0001c0001t0001g0070 a0001c0001t0001g0190 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0218 a0001c0001t0001g0228 a0001c0001t0001g0231 a0001c0001t0001g0240 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0263 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0280 a0001c0001t0001g0288 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0318 a0001c0001t0003g0010 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0224 a0001c0001t0004g0245 a0001c0001t0020g0179 a0001c0011t0001g0289 a0001c0027t0001g0260 a0002c0009t0002g0208 a0002c0009t0002g0226 a0005c0006t0004g0241	31	336	0.0923	8	c.89- others(23): Show c.89-2576_89-2569dupTATATATA	SREBF2	ENSG00000198911.13	transcript	ENST00000361204.9	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
SREBF2_chr22_41828105_41912305	41864261	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 NA18945.hp1 NA18961.hp1 others(3): Show HG00099.hp1 NA18945.hp1 NA18961.hp1 NA18988.hp2 NA18999.hp1 NA20300.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0004 a0002c0002t0001 a0003c0003t0004	a0002c0002t0001g0002 a0002c0002t0001g0131 a0002c0002t0001g0144 others(2): Show a0002c0002t0001g0002 a0002c0002t0001g0131 a0002c0002t0001g0144 a0002c0002t0001g0156 a0003c0003t0004g0134	6	336	0.0179	8	c.89- others(23): Show c.89-2554_89-2547dupCACACACA	SREBF2	ENSG00000198911.13	transcript	ENST00000361204.9	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
SREBF2_chr22_41828105_41912305	41869296	G G	GGTTTTAC others(1): Show GGTTTTACT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00408.hp2 others(161): Show HG00099.hp1 HG00280.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01070.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01884.hp1 HG01934.hp1 HG01943.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp2 HG02109.hp2 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03540.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18942.hp1 NA18945.hp1 NA18946.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18959.hp1 NA18961.hp1 NA18962.hp1 NA18965.hp2 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18984.hp2 NA18986.hp2 NA18988.hp2 NA18990.hp2 NA18991.hp2 NA18994.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19057.hp2 NA19060.hp1 NA19062.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19081.hp1 NA19087.hp1 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0010 a0011	a0001c0001 a0002c0002 a0002c0009 others(13): Show a0001c0001 a0002c0002 a0002c0009 a0002c0014 a0002c0017 a0002c0018 a0002c0020 a0002c0029 a0003c0003 a0003c0010 a0003c0019 a0004c0004 a0005c0006 a0006c0013 a0010c0021 a0011c0016	a0001c0001t0001 a0001c0001t0012 a0001c0001t0019 others(28): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0019 a0001c0001t0020 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0006 a0002c0002t0008 a0002c0002t0009 a0002c0002t0013 a0002c0009t0002 a0002c0014t0001 a0002c0017t0002 a0002c0018t0002 a0002c0020t0004 a0002c0029t0001 a0003c0003t0004 a0003c0010t0001 a0003c0010t0022 a0003c0019t0004 a0004c0004t0001 a0004c0004t0003 a0004c0004t0006 a0004c0004t0010 a0004c0004t0011 a0005c0006t0004 a0006c0013t0001 a0006c0013t0003 a0010c0021t0001 a0011c0016t0004	a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0175 others(159): Show a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0175 a0001c0001t0001g0183 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0204 a0001c0001t0001g0296 a0001c0001t0012g0178 a0001c0001t0019g0195 a0001c0001t0020g0179 a0002c0002t0001g0002 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0118 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0127 a0002c0002t0001g0129 a0002c0002t0001g0131 a0002c0002t0001g0138 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0146 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0002g0001 a0002c0002t0002g0009 a0002c0002t0002g0025 a0002c0002t0002g0027 a0002c0002t0002g0028 a0002c0002t0002g0036 a0002c0002t0002g0047 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0108 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0002g0117 a0002c0002t0002g0147 a0002c0002t0002g0148 a0002c0002t0002g0149 a0002c0002t0002g0163 a0002c0002t0003g0008 a0002c0002t0003g0024 a0002c0002t0003g0026 a0002c0002t0003g0052 a0002c0002t0003g0053 a0002c0002t0003g0055 a0002c0002t0003g0056 a0002c0002t0003g0057 a0002c0002t0003g0058 a0002c0002t0003g0059 a0002c0002t0003g0065 a0002c0002t0003g0076 a0002c0002t0003g0109 a0002c0002t0003g0328 a0002c0002t0003g0329 a0002c0002t0003g0330 a0002c0002t0003g0331 a0002c0002t0003g0333 a0002c0002t0006g0006 a0002c0002t0008g0332 a0002c0002t0009g0320 a0002c0002t0009g0321 a0002c0002t0009g0322 a0002c0002t0009g0324 a0002c0002t0013g0054 a0002c0009t0002g0208 a0002c0009t0002g0226 a0002c0014t0001g0229 a0002c0017t0002g0069 a0002c0018t0002g0083 a0002c0020t0004g0159 a0002c0029t0001g0139 a0003c0003t0004g0097 a0003c0003t0004g0105 a0003c0003t0004g0116 a0003c0003t0004g0122 a0003c0003t0004g0123 a0003c0003t0004g0125 a0003c0003t0004g0128 a0003c0003t0004g0130 a0003c0003t0004g0134 a0003c0003t0004g0135 a0003c0003t0004g0137 a0003c0003t0004g0140 a0003c0003t0004g0158 a0003c0003t0004g0164 a0003c0010t0001g0145 a0003c0010t0022g0022 a0003c0019t0004g0041 a0004c0004t0001g0042 a0004c0004t0001g0050 a0004c0004t0001g0227 a0004c0004t0003g0004 a0004c0004t0006g0049 a0004c0004t0010g0044 a0004c0004t0010g0045 a0004c0004t0010g0046 a0004c0004t0011g0043 a0004c0004t0011g0051 a0005c0006t0004g0119 a0005c0006t0004g0124 a0005c0006t0004g0132 a0005c0006t0004g0133 a0006c0013t0001g0136 a0006c0013t0003g0066 a0010c0021t0001g0093 a0011c0016t0004g0141	164	336	0.4881	8	c.720 others(23): Show c.720+504_720+505insGTTTTACT	SREBF2	ENSG00000198911.13	transcript	ENST00000361204.9	protein_coding	3/18			chr22	TogoVar
SRFBP1_chr5_121956975_122033633	121961746	C C	CACACACA others(1): Show CACACACAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01192.hp2 HG01346.hp1 others(16): Show HG01070.hp1 HG01192.hp2 HG01346.hp1 HG01361.hp2 HG02015.hp1 HG02027.hp1 HG02109.hp1 HG02257.hp1 HG02818.hp1 HG02965.hp1 HG04199.hp1 NA18960.hp1 NA18971.hp1 NA18971.hp2 NA18980.hp2 NA18994.hp1 NA18995.hp2 NA19011.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0013t0001	a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0062 others(16): Show a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0062 a0001c0001t0001g0092 a0001c0001t0001g0119 a0001c0001t0001g0124 a0001c0001t0001g0129 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0141 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0174 a0001c0001t0001g0183 a0001c0001t0003g0009 a0001c0001t0003g0108 a0001c0001t0003g0121 a0001c0001t0011g0120 a0001c0013t0001g0101	19	228	0.0833	8	c.-28 others(17): Show c.-287_-286insACACACAA	SRFBP1	ENSG00000151304.6	transcript	ENST00000339397.5	protein_coding		228		chr5	TogoVar
SRF_chr6_43166269_43186506	43177228	G G	GTTTTTTT others(1): Show GTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02280.hp1 HG02615.hp2 others(4): Show HG02258.hp2 HG02280.hp1 HG02615.hp2 HG02896.hp1 HG02897.hp1 HG03098.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0005	7	356	0.0197	8	c.116 others(25): Show c.1162+571_1162+578dupTTTTTTTT	SRF	ENSG00000112658.8	transcript	ENST00000265354.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
SRGAP1_chr12_63839700_64167217	63856252	C C	CTAAATAA others(1): Show CTAAATAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02257.hp2 HG00639.hp1 HG02257.hp2	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0012 a0001c0007t0133 a0001c0002t0012 a0001c0007t0133	a0001c0002t0012g0145 a0001c0007t0133g0103 a0001c0002t0012g0145 a0001c0007t0133g0103	2	170	0.0118	8	c.67+ others(25): Show c.67+11406_67+11413dupTAAATAAA	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	63900205	T T	TTTTTTTT others(1): Show TTTTTTTTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00408.hp2 others(37): Show HG00099.hp2 HG00408.hp1 HG00408.hp2 HG01069.hp1 HG01257.hp2 HG01496.hp1 HG01517.hp2 HG01978.hp2 HG02056.hp2 HG02135.hp2 HG02486.hp1 HG02698.hp1 HG02809.hp1 HG02818.hp2 HG02895.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG06807.hp1 NA18522.hp1 NA18946.hp2 NA18952.hp1 NA18968.hp2 NA18984.hp1 NA18988.hp2 NA19079.hp1 NA20129.hp1 NA20805.hp1 NA20905.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0008 a0002c0004 a0003c0005 a0004c0012	a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 others(36): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0067 a0001c0001t0070 a0001c0001t0072 a0001c0001t0093 a0001c0001t0095 a0001c0001t0101 a0001c0001t0103 a0001c0001t0110 a0001c0001t0112 a0001c0001t0119 a0001c0001t0120 a0001c0001t0125 a0001c0001t0141 a0001c0001t0146 a0001c0002t0003 a0001c0002t0024 a0001c0002t0026 a0001c0002t0029 a0001c0002t0033 a0001c0002t0039 a0001c0002t0040 a0001c0002t0046 a0001c0002t0048 a0001c0002t0051 a0001c0002t0055 a0001c0002t0062 a0001c0002t0065 a0001c0003t0001 a0001c0003t0089 a0001c0006t0150 a0001c0008t0131 a0002c0004t0091 a0002c0004t0152 a0002c0004t0153 a0003c0005t0138 a0004c0012t0017	a0001c0001t0003g0098 a0001c0001t0007g0039 a0001c0001t0009g0143 others(37): Show a0001c0001t0003g0098 a0001c0001t0007g0039 a0001c0001t0009g0143 a0001c0001t0067g0100 a0001c0001t0070g0118 a0001c0001t0072g0011 a0001c0001t0093g0033 a0001c0001t0095g0010 a0001c0001t0101g0123 a0001c0001t0103g0159 a0001c0001t0110g0030 a0001c0001t0112g0138 a0001c0001t0119g0106 a0001c0001t0120g0044 a0001c0001t0125g0139 a0001c0001t0141g0012 a0001c0001t0146g0013 a0001c0002t0003g0099 a0001c0002t0024g0043 a0001c0002t0026g0023 a0001c0002t0029g0115 a0001c0002t0033g0025 a0001c0002t0039g0027 a0001c0002t0040g0019 a0001c0002t0046g0048 a0001c0002t0048g0120 a0001c0002t0051g0024 a0001c0002t0055g0045 a0001c0002t0062g0041 a0001c0002t0065g0126 a0001c0003t0001g0035 a0001c0003t0001g0036 a0001c0003t0089g0160 a0001c0006t0150g0167 a0001c0008t0131g0020 a0002c0004t0091g0032 a0002c0004t0152g0109 a0002c0004t0153g0114 a0003c0005t0138g0047 a0004c0012t0017g0113	40	170	0.2353	8	c.67+ others(25): Show c.67+55329_67+55330insCTTTTTTT	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	63900209	T T	TTTTCTTT others(1): Show TTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02896.hp1 HG03471.hp2 others(4): Show HG02886.hp2 HG02896.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp1 NA18906.hp1 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0010 others(2): Show a0001c0001 a0001c0002 a0001c0010 a0001c0011 a0003c0005	a0001c0001t0071 a0001c0001t0121 a0001c0001t0149 others(4): Show a0001c0001t0071 a0001c0001t0121 a0001c0001t0149 a0001c0002t0022 a0001c0010t0019 a0001c0011t0015 a0003c0005t0139	a0001c0001t0071g0006 a0001c0001t0121g0108 a0001c0001t0149g0156 others(4): Show a0001c0001t0071g0006 a0001c0001t0121g0108 a0001c0001t0149g0156 a0001c0002t0022g0169 a0001c0010t0019g0168 a0001c0011t0015g0083 a0003c0005t0139g0170	7	170	0.0412	8	c.67+ others(25): Show c.67+55329_67+55330insCTTTCTTT	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	63913480	T T	TATATATG others(1): Show TATATATGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG01069.hp1 others(19): Show HG00099.hp2 HG00408.hp1 HG01069.hp1 HG01496.hp1 HG02135.hp2 HG02145.hp2 HG02451.hp1 HG02630.hp1 HG02698.hp1 HG03098.hp1 HG03139.hp2 HG03516.hp2 HG03831.hp1 HG03927.hp1 NA18522.hp1 NA18968.hp2 NA18971.hp1 NA18984.hp1 NA19060.hp1 NA19079.hp1 NA20805.hp1 NA20905.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0002c0004 others(1): Show a0001c0001 a0001c0002 a0002c0004 a0004c0012	a0001c0001t0003 a0001c0001t0072 a0001c0001t0095 others(19): Show a0001c0001t0003 a0001c0001t0072 a0001c0001t0095 a0001c0001t0096 a0001c0001t0099 a0001c0001t0101 a0001c0001t0112 a0001c0001t0120 a0001c0001t0141 a0001c0001t0144 a0001c0001t0145 a0001c0001t0146 a0001c0002t0003 a0001c0002t0029 a0001c0002t0045 a0001c0002t0046 a0001c0002t0048 a0001c0002t0062 a0001c0002t0065 a0002c0004t0152 a0002c0004t0153 a0004c0012t0017	a0001c0001t0003g0098 a0001c0001t0072g0011 a0001c0001t0095g0010 others(19): Show a0001c0001t0003g0098 a0001c0001t0072g0011 a0001c0001t0095g0010 a0001c0001t0096g0064 a0001c0001t0099g0074 a0001c0001t0101g0123 a0001c0001t0112g0138 a0001c0001t0120g0044 a0001c0001t0141g0012 a0001c0001t0144g0004 a0001c0001t0145g0005 a0001c0001t0146g0013 a0001c0002t0003g0099 a0001c0002t0029g0115 a0001c0002t0045g0082 a0001c0002t0046g0048 a0001c0002t0048g0120 a0001c0002t0062g0041 a0001c0002t0065g0126 a0002c0004t0152g0109 a0002c0004t0153g0114 a0004c0012t0017g0113	22	170	0.1294	8	c.67+ others(25): Show c.67+68603_67+68604insGGATATAT	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr12	TogoVar

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