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
CHD3_chr17_7883789_7917755	7884446	T T	TATATATA others(16): Show TATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	358	0.0028	23	c.-45 others(34): Show c.-4555_-4554insATATATATATATATATATATATA	CHD3	ENSG00000170004.19	transcript	ENST00000330494.12	protein_coding		4342		chr17	TogoVar
CHD5_chr1_6096787_6185321	6167157	C C	CGGGGGAA others(16): Show CGGGGGAAAGAAAGGTGGAGAGCT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0005 a0001c0010t0005	a0001c0010t0005g0032 a0001c0010t0005g0032	1	316	0.0032	23	c.207 others(38): Show c.207+970_207+992dupAGCTCTCCACCTTTCTTTCCCCC	CHD5	ENSG00000116254.18	transcript	ENST00000262450.8	protein_coding	2/41			chr1	TogoVar
CHD6_chr20_41397083_41623377	41419554	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	27	0.0370	23	c.612 others(40): Show c.6127+931_6127+953dupTTTTTTTTTTTTTTTTTTTTTTT	CHD6	ENSG00000124177.16	transcript	ENST00000373233.8	protein_coding	31/36			chr20	TogoVar
CHD6_chr20_41397083_41623377	41432160	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0008 a0008c0011t0008	a0008c0011t0008g0007 a0008c0011t0008g0007	1	197	0.0051	23	c.406 others(42): Show c.4068+5113_4068+5114insTTTTTTTTTTTTTTTTTTTTTTT	CHD6	ENSG00000124177.16	transcript	ENST00000373233.8	protein_coding	27/36			chr20	TogoVar
CHEK2_chr22_28682743_28746820	28712094	G G	GTATTAGA others(16): Show GTATTAGAATTTACAGACATTCCA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00597.hp2 HG00621.hp2 others(25): Show HG00544.hp1 HG00597.hp2 HG00621.hp2 HG01346.hp2 HG01358.hp1 HG02486.hp1 HG02622.hp1 HG02647.hp1 HG02809.hp1 HG02886.hp1 HG02970.hp2 HG03195.hp1 HG03209.hp2 HG03927.hp1 NA18945.hp2 NA18947.hp2 NA18949.hp2 NA18952.hp1 NA18971.hp2 NA18973.hp1 NA18994.hp1 NA18997.hp2 NA19007.hp2 NA19043.hp1 NA19056.hp1 NA19087.hp2 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0056 others(25): Show a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0206 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0247	28	382	0.0733	23	c.684 others(37): Show c.684-100_684-78dupTGGAATGTCTGTAAATTCTAATA	CHEK2	ENSG00000183765.24	transcript	ENST00000404276.6	protein_coding	5/14			chr22	TogoVar
CHEK2_chr22_28682743_28746820	28729540	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0362 a0001c0002t0001g0362	1	101	0.0099	23	c.320 others(40): Show c.320-4196_320-4174dupTTTTTTTTTTTTTTTTTTTTTTT	CHEK2	ENSG00000183765.24	transcript	ENST00000404276.6	protein_coding	2/14			chr22	TogoVar
CHID1_chr11_862859_915810	910899	T T	TGGGCCGG others(16): Show TGGGCCGGGACAGGGGACTGGGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0074 a0002c0002t0001g0074	1	384	0.0026	23	c.-16 others(32): Show c.-169_-168insTGCCCAGTCCCCTGTCCCGGCCC	CHID1	ENSG00000177830.18	transcript	ENST00000323578.13	protein_coding		90		chr11	TogoVar
CHL1_chr3_191763_414417	239595	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0241 a0001c0001t0013g0241	1	174	0.0057	23	c.-17 others(42): Show c.-174-5018_-174-5017insTATATATATATATATATATATAT	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	1/27			chr3	TogoVar
CHMP7_chr8_23238637_23266999	23241367	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 NA18522.hp2 HG01109.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0010 a0001c0001t0006 a0001c0001t0010	a0001c0001t0006g0020 a0001c0001t0010g0165 a0001c0001t0006g0020 a0001c0001t0010g0165	2	59	0.0339	23	c.-29 others(34): Show c.-2918_-2917insTTTTTTTTTTTTTTTTTTTTTTT	CHMP7	ENSG00000147457.14	transcript	ENST00000397677.6	protein_coding		2269		chr8	TogoVar
CHM_chrX_85856180_86052558	85871320	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03540.hp1 HG02723.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0216 a0001c0001t0006g0217 a0001c0001t0006g0216 a0001c0001t0006g0217	2	233	0.0086	23	c.177 others(42): Show c.1770+1731_1770+1732insCTTTTTTTTTTTTTTTTTTTTTT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	14/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85913332	A A	AAAGAAAG others(16): Show AAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00738.hp1 NA18995.hp1 NA19062.hp1 others(1): Show HG00738.hp1 NA18995.hp1 NA19062.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0157 a0001c0001t0001g0160 others(1): Show a0001c0001t0001g0023 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0213	4	48	0.0833	23	c.116 others(42): Show c.1167-1995_1167-1994insCTTTCTTTCTTTCTTTCTTTCTT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	8/14			chrX	TogoVar
CHN1_chr2_174793809_175010381	174847773	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0038 a0001c0001t0006g0038	1	70	0.0143	23	c.550 others(38): Show c.550-839_550-817dupTTTTTTTTTTTTTTTTTTTTTTT	CHN1	ENSG00000128656.15	transcript	ENST00000409900.9	protein_coding	6/12			chr2	TogoVar
CHN2_chr7_29189775_29519328	29252578	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA18971.hp2 HG02809.hp1 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0181 a0001c0001t0007g0186 a0001c0001t0001g0181 a0001c0001t0007g0186	2	118	0.0169	23	c.49+ others(40): Show c.49+57594_49+57616dupTTTTTTTTTTTTTTTTTTTTTTT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29437597	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0147 a0001c0002t0004g0147	1	160	0.0063	23	c.576 others(42): Show c.576+36785_576+36786insAAAAAAAAAAAAAAAAAAAAAAA	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29442934	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00738.hp1 HG01168.hp1 others(9): Show HG00438.hp2 HG00738.hp1 HG01168.hp1 HG01169.hp1 HG01884.hp2 HG01952.hp2 HG02602.hp1 HG03492.hp1 HG03710.hp2 HG04228.hp2 NA18942.hp2 NA18971.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0002t0002 a0002c0003t0004	a0001c0001t0001g0010 a0001c0001t0001g0065 a0001c0001t0001g0066 others(9): Show a0001c0001t0001g0010 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0137 a0001c0001t0001g0142 a0001c0001t0001g0146 a0001c0001t0003g0053 a0001c0001t0006g0197 a0001c0001t0007g0186 a0001c0002t0002g0145 a0002c0003t0004g0054 a0002c0003t0004g0081	12	100	0.1200	23	c.577 others(42): Show c.577-37328_577-37327insTTTTTTTTTTTTTTTTTTTTTTT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHODL_chr21_18239833_18272370	18248673	C C	CATATATG others(16): Show CATATATGTATATATTATATACAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp2 HG01069.hp2 others(47): Show HG00597.hp1 HG00597.hp2 HG01069.hp2 HG01243.hp1 HG01975.hp2 HG02027.hp1 HG02055.hp1 HG02109.hp2 HG02258.hp1 HG02280.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03098.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03491.hp2 HG03492.hp2 HG03654.hp1 HG03927.hp1 HG04184.hp2 NA18906.hp2 NA18946.hp2 NA18953.hp2 NA18965.hp1 NA18967.hp2 NA18982.hp1 NA18984.hp1 NA18990.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19079.hp2 NA19081.hp1 NA20905.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0001t0024 a0003c0004t0001	a0001c0001t0001g0012 a0001c0001t0001g0044 a0001c0001t0001g0046 others(28): Show a0001c0001t0001g0012 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0002g0006 a0001c0001t0002g0014 a0001c0001t0002g0023 a0001c0001t0002g0047 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0250 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0003g0252 a0001c0001t0004g0013 a0001c0001t0004g0045 a0001c0001t0006g0251 a0001c0001t0007g0245 a0001c0001t0010g0249 a0001c0001t0010g0253 a0001c0001t0010g0254 a0001c0001t0011g0258 a0001c0001t0011g0259 a0001c0001t0015g0244 a0001c0001t0024g0257 a0003c0004t0001g0046	50	397	0.1259	23	c.79+ others(38): Show c.79+3385_79+3407dupTTATATACATATATATGTATATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHP2_chr16_23750026_23763935	23759421	T T	TTTCTTTC others(16): Show TTTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	390	0.0026	23	c.18 others(34): Show c.1838_*1839insTTCTTTCTTTCTTTCTTTCTTTC	CHP2	ENSG00000166869.3	transcript	ENST00000300113.3	protein_coding		487		chr16	TogoVar
CHRM2_chr7_136863652_137025213	136867786	T T	TATATATA others(16): Show TATATATATATATATATATTCTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG00639.hp1 HG00735.hp2 others(36): Show HG00558.hp1 HG00639.hp1 HG00735.hp2 HG00738.hp1 HG01074.hp1 HG01074.hp2 HG01175.hp2 HG01243.hp1 HG02109.hp2 HG02145.hp2 HG02280.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02717.hp2 HG02723.hp1 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02965.hp1 HG03130.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03669.hp1 HG03831.hp1 NA18942.hp2 NA18952.hp1 NA18954.hp1 NA18955.hp2 NA18962.hp1 NA18982.hp1 NA18984.hp2 NA18995.hp1 NA19002.hp1 NA19072.hp2 NA20129.hp1 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0009 a0001c0001 a0004c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0026 a0001c0001t0029 a0001c0001t0047 a0001c0001t0051 a0001c0001t0062 a0001c0001t0071 a0004c0009t0028	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(36): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0286 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0299 a0001c0001t0001g0307 a0001c0001t0001g0312 a0001c0001t0002g0293 a0001c0001t0004g0257 a0001c0001t0005g0291 a0001c0001t0005g0294 a0001c0001t0005g0310 a0001c0001t0007g0285 a0001c0001t0007g0287 a0001c0001t0007g0288 a0001c0001t0007g0300 a0001c0001t0007g0301 a0001c0001t0007g0302 a0001c0001t0007g0316 a0001c0001t0009g0295 a0001c0001t0009g0296 a0001c0001t0009g0297 a0001c0001t0009g0298 a0001c0001t0009g0304 a0001c0001t0009g0313 a0001c0001t0011g0209 a0001c0001t0016g0256 a0001c0001t0018g0311 a0001c0001t0019g0315 a0001c0001t0026g0308 a0001c0001t0029g0292 a0001c0001t0047g0122 a0001c0001t0051g0254 a0001c0001t0062g0309 a0001c0001t0071g0306 a0004c0009t0028g0303	39	284	0.1373	23	c.-14 others(34): Show c.-1489_-1488insATATATATATATATATATTCTGG	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding		865		chr7	TogoVar
CHRM2_chr7_136863652_137025213	136867960	G G	GATATATA others(16): Show GATATATATATATATATTCTGGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	304	0.0033	23	c.-13 others(34): Show c.-1315_-1314insATATATATATATATATTCTGGAT	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding		691		chr7	TogoVar
CHRM2_chr7_136863652_137025213	136943716	G G	GCAGGATC others(16): Show GCAGGATCATGTTTCAAACTGATA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02280.hp2 HG02717.hp2 others(6): Show HG01243.hp1 HG02280.hp2 HG02717.hp2 HG02818.hp2 HG02895.hp1 HG02922.hp2 HG03130.hp2 HG03453.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0009 a0001c0001t0031 a0001c0001t0048 others(3): Show a0001c0001t0009 a0001c0001t0031 a0001c0001t0048 a0001c0001t0078 a0001c0001t0080 a0001c0003t0028	a0001c0001t0009g0296 a0001c0001t0009g0297 a0001c0001t0009g0298 others(6): Show a0001c0001t0009g0296 a0001c0001t0009g0297 a0001c0001t0009g0298 a0001c0001t0009g0304 a0001c0001t0031g0096 a0001c0001t0048g0049 a0001c0001t0078g0095 a0001c0001t0080g0097 a0001c0003t0028g0064	9	144	0.0625	23	c.-12 others(44): Show c.-124-48468_-124-48467insGATCATGTTTCAAACTGATACAG	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHRM2_chr7_136863652_137025213	136943716	G G	GCAGGATC others(16): Show GCAGGATCATGTTTCAAATTGATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00438.hp1 others(171): Show HG00099.hp2 HG00323.hp2 HG00438.hp1 HG00558.hp1 HG00597.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01978.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02273.hp1 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18950.hp2 NA18952.hp1 NA18954.hp1 NA18955.hp1 NA18956.hp1 NA18957.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18966.hp2 NA18968.hp1 NA18970.hp1 NA18971.hp2 NA18973.hp2 NA18975.hp1 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18989.hp1 NA18991.hp1 NA18991.hp2 NA18995.hp1 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19007.hp2 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19057.hp2 NA19060.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19075.hp2 NA19081.hp2 NA19083.hp2 NA19085.hp1 NA19087.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0006	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004 a0004c0009 a0005c0008 a0006c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(66): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0043 a0001c0001t0046 a0001c0001t0047 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0068 a0001c0001t0069 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0077 a0001c0001t0079 a0001c0001t0082 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0003t0023 a0002c0004t0002 a0004c0009t0028 a0005c0008t0083 a0006c0006t0014	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(169): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0023 a0001c0001t0001g0040 a0001c0001t0001g0157 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0219 a0001c0001t0001g0255 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0289 a0001c0001t0001g0299 a0001c0001t0001g0312 a0001c0001t0001g0314 a0001c0001t0002g0011 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0031 a0001c0001t0002g0091 a0001c0001t0002g0116 a0001c0001t0002g0154 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0164 a0001c0001t0002g0174 a0001c0001t0002g0176 a0001c0001t0002g0293 a0001c0001t0003g0220 a0001c0001t0003g0222 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0274 a0001c0001t0004g0076 a0001c0001t0004g0078 a0001c0001t0004g0198 a0001c0001t0004g0199 a0001c0001t0004g0257 a0001c0001t0005g0021 a0001c0001t0005g0042 a0001c0001t0005g0127 a0001c0001t0005g0135 a0001c0001t0005g0162 a0001c0001t0005g0172 a0001c0001t0005g0173 a0001c0001t0005g0178 a0001c0001t0005g0179 a0001c0001t0005g0291 a0001c0001t0006g0185 a0001c0001t0006g0213 a0001c0001t0006g0243 a0001c0001t0006g0276 a0001c0001t0006g0277 a0001c0001t0006g0279 a0001c0001t0007g0088 a0001c0001t0007g0132 a0001c0001t0007g0141 a0001c0001t0007g0204 a0001c0001t0007g0285 a0001c0001t0007g0287 a0001c0001t0007g0288 a0001c0001t0007g0300 a0001c0001t0007g0301 a0001c0001t0007g0302 a0001c0001t0007g0305 a0001c0001t0007g0316 a0001c0001t0008g0073 a0001c0001t0008g0074 a0001c0001t0008g0075 a0001c0001t0008g0083 a0001c0001t0008g0084 a0001c0001t0008g0086 a0001c0001t0008g0087 a0001c0001t0008g0089 a0001c0001t0008g0092 a0001c0001t0008g0131 a0001c0001t0008g0273 a0001c0001t0009g0215 a0001c0001t0009g0295 a0001c0001t0009g0313 a0001c0001t0010g0025 a0001c0001t0010g0026 a0001c0001t0010g0065 a0001c0001t0010g0066 a0001c0001t0010g0251 a0001c0001t0011g0002 a0001c0001t0011g0209 a0001c0001t0011g0210 a0001c0001t0011g0211 a0001c0001t0013g0069 a0001c0001t0013g0070 a0001c0001t0013g0071 a0001c0001t0013g0248 a0001c0001t0014g0052 a0001c0001t0014g0072 a0001c0001t0015g0263 a0001c0001t0016g0112 a0001c0001t0017g0278 a0001c0001t0018g0041 a0001c0001t0018g0217 a0001c0001t0018g0311 a0001c0001t0019g0039 a0001c0001t0020g0099 a0001c0001t0020g0100 a0001c0001t0020g0102 a0001c0001t0021g0045 a0001c0001t0021g0050 a0001c0001t0023g0246 a0001c0001t0024g0068 a0001c0001t0024g0221 a0001c0001t0025g0123 a0001c0001t0027g0018 a0001c0001t0027g0020 a0001c0001t0030g0205 a0001c0001t0031g0010 a0001c0001t0032g0108 a0001c0001t0033g0103 a0001c0001t0033g0113 a0001c0001t0034g0110 a0001c0001t0035g0114 a0001c0001t0035g0115 a0001c0001t0036g0059 a0001c0001t0037g0053 a0001c0001t0037g0054 a0001c0001t0038g0009 a0001c0001t0039g0317 a0001c0001t0040g0047 a0001c0001t0041g0318 a0001c0001t0043g0247 a0001c0001t0046g0208 a0001c0001t0047g0122 a0001c0001t0049g0117 a0001c0001t0050g0085 a0001c0001t0051g0254 a0001c0001t0053g0264 a0001c0001t0054g0253 a0001c0001t0055g0262 a0001c0001t0059g0134 a0001c0001t0060g0019 a0001c0001t0061g0155 a0001c0001t0064g0003 a0001c0001t0065g0175 a0001c0001t0066g0044 a0001c0001t0068g0167 a0001c0001t0069g0163 a0001c0001t0071g0306 a0001c0001t0072g0245 a0001c0001t0073g0105 a0001c0001t0074g0098 a0001c0001t0075g0106 a0001c0001t0077g0107 a0001c0001t0079g0101 a0001c0001t0082g0159 a0001c0002t0001g0027 a0001c0002t0002g0036 a0001c0002t0005g0030 a0001c0003t0023g0218 a0002c0004t0002g0165 a0002c0004t0002g0169 a0004c0009t0028g0303 a0005c0008t0083g0104 a0006c0006t0014g0260	174	309	0.5631	23	c.-12 others(44): Show c.-124-48468_-124-48467insGATCATGTTTCAAATTGATACAG	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHRM3_chr1_239381568_239920450	239385815	C C	CTCTTTCT others(16): Show CTCTTTCTTTCTTTCTTTCTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00738.hp2 HG01243.hp1 others(15): Show HG00639.hp1 HG00738.hp2 HG01243.hp1 HG01346.hp2 HG01496.hp1 HG02258.hp2 HG03209.hp2 HG03239.hp1 HG03471.hp2 HG03927.hp2 HG06807.hp1 NA18906.hp1 NA18939.hp1 NA19000.hp1 NA19043.hp1 NA19240.hp1 NA20752.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0003c0004 a0001c0001 a0001c0005 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0026 a0001c0001t0035 a0001c0001t0038 a0001c0001t0043 a0001c0005t0047 a0003c0004t0041	a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0002g0048 others(15): Show a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0002g0048 a0001c0001t0003g0047 a0001c0001t0003g0066 a0001c0001t0003g0092 a0001c0001t0003g0115 a0001c0001t0005g0053 a0001c0001t0006g0044 a0001c0001t0006g0065 a0001c0001t0009g0038 a0001c0001t0009g0045 a0001c0001t0026g0091 a0001c0001t0035g0094 a0001c0001t0038g0032 a0001c0001t0043g0046 a0001c0005t0047g0081 a0003c0004t0041g0043	18	53	0.3396	23	c.-19 others(34): Show c.-1933_-1932insTCTTTCTTTCTTTCTTTCTTTCT	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding		752		chr1	TogoVar
CHRM3_chr1_239381568_239920450	239385818	T T	TTTCTTTC others(16): Show TTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0073 a0001c0001t0005g0073	1	89	0.0112	23	c.-19 others(34): Show c.-1930_-1929insTTCTTTCTTTCTTTCTTTCTTTC	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding		749		chr1	TogoVar
CHRM3_chr1_239381568_239920450	239874295	A A	ATATATAT others(16): Show ATATATATATATCTATATACACAG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00738.hp2 HG01258.hp2 others(6): Show HG00140.hp2 HG00738.hp2 HG01258.hp2 HG01515.hp1 HG03098.hp2 HG03239.hp2 HG03831.hp1 NA18944.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 a0001c0001t0016 a0001c0001t0043 a0001c0001t0051	a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0109 others(6): Show a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0109 a0001c0001t0004g0024 a0001c0001t0004g0064 a0001c0001t0011g0087 a0001c0001t0016g0114 a0001c0001t0043g0046 a0001c0001t0051g0105	9	114	0.0789	23	c.-19 others(42): Show c.-19-33127_-19-33126insCTATATACACAGTATATATATAT	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRM3_chr1_239381568_239920450	239874297	A A	ATATATAT others(16): Show ATATATATATATCTATATACACAG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0079 a0001c0001t0055g0079	1	98	0.0102	23	c.-19 others(42): Show c.-19-33125_-19-33124insCTATATACACAGTATATATATAT	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRNA10_chr11_3660587_3676384	3663089	A A	ATCATCTC others(16): Show ATCATCTCATCTCATCTCATCATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG03688.hp2 HG00280.hp2 HG03688.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0019 a0002c0002t0006g0019	2	214	0.0093	23	c.30 others(34): Show c.3017_*3018insGATGATGAGATGAGATGAGATGA	CHRNA10	ENSG00000129749.3	transcript	ENST00000250699.2	protein_coding		2497		chr11	TogoVar
CHRNA5_chr15_78560520_78600269	78570424	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18945.hp1 NA18953.hp1 others(10): Show NA18941.hp2 NA18945.hp1 NA18953.hp1 NA18954.hp1 NA18955.hp1 NA18960.hp2 NA18971.hp1 NA18980.hp1 NA18989.hp1 NA19054.hp1 NA19057.hp1 NA19079.hp2 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0012 a0002c0002t0003 a0002c0002t0030 a0001c0001t0012 a0002c0002t0003 a0002c0002t0030	a0001c0001t0012g0155 a0002c0002t0003g0145 a0002c0002t0003g0146 others(10): Show a0001c0001t0012g0155 a0002c0002t0003g0145 a0002c0002t0003g0146 a0002c0002t0003g0147 a0002c0002t0003g0148 a0002c0002t0003g0149 a0002c0002t0003g0150 a0002c0002t0003g0152 a0002c0002t0003g0153 a0002c0002t0003g0154 a0002c0002t0003g0217 a0002c0002t0003g0295 a0002c0002t0030g0151	13	101	0.1287	23	c.106 others(40): Show c.106+4602_106+4624dupTTTTTTTTTTTTTTTTTTTTTTT	CHRNA5	ENSG00000169684.13	transcript	ENST00000299565.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
CHRNB3_chr8_42692366_42742407	42703435	A A	AAAAAAAT others(16): Show AAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 NA19065.hp1 HG00140.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0222 a0001c0001t0006g0223 a0001c0001t0002g0222 a0001c0001t0006g0223	2	168	0.0119	23	c.53- others(38): Show c.53-5281_53-5280insAAAAATATATATATATATATATA	CHRNB3	ENSG00000147432.7	transcript	ENST00000289957.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
CHRNB3_chr8_42692366_42742407	42717403	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02735.hp1 HG02895.hp2 others(9): Show HG00558.hp1 HG02735.hp1 HG02895.hp2 HG03017.hp2 HG03490.hp2 HG03710.hp2 NA18612.hp2 NA18939.hp2 NA18941.hp1 NA18969.hp1 NA18988.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0005 a0001c0001t0002g0009 a0001c0001t0002g0152 others(9): Show a0001c0001t0001g0005 a0001c0001t0002g0009 a0001c0001t0002g0152 a0001c0001t0002g0154 a0001c0001t0002g0173 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0195 a0001c0001t0002g0237 a0001c0001t0002g0240 a0001c0001t0002g0252 a0001c0001t0005g0247	12	27	0.4444	23	c.249 others(40): Show c.249+6971_249+6972insAAAAAAAAAAAAAAAAAAAAGAA	CHRNB3	ENSG00000147432.7	transcript	ENST00000289957.3	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
CHST11_chr12_104451948_104767014	104475688	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0063 a0001c0001t0015g0063	1	158	0.0063	23	c.118 others(42): Show c.118+18162_118+18163insATATATATATATATATATATTAT	CHST11	ENSG00000171310.11	transcript	ENST00000303694.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
CHST11_chr12_104451948_104767014	104750428	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0093 a0001c0001t0061g0093	1	72	0.0139	23	c.205 others(40): Show c.205-6515_205-6493dupTTTTTTTTTTTTTTTTTTTTTTT	CHST11	ENSG00000171310.11	transcript	ENST00000303694.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
CHST12_chr7_2398611_2453484	2432141	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0123 a0005c0005t0123	a0005c0005t0123g0274 a0005c0005t0123g0274	1	37	0.0270	23	c.-77 others(38): Show c.-77-408_-77-386dupAAAAAAAAAAAAAAAAAAAAAAA	CHST12	ENSG00000136213.10	transcript	ENST00000618655.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHST13_chr3_126519155_126548291	126533532	T T	TTTGTGTA others(16): Show TTTGTGTATATTTAGCCAATCTTG	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0001 a0008c0012t0001	a0008c0012t0001g0072 a0008c0012t0001g0072	1	362	0.0028	23	c.98- others(38): Show c.98-2738_98-2716dupTTGTGTATATTTAGCCAATCTTG	CHST13	ENSG00000180767.11	transcript	ENST00000319340.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHST15_chr10_124002668_124098598	124045112	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00738.hp2 HG02015.hp1 others(2): Show HG00544.hp1 HG00738.hp2 HG02015.hp1 HG02148.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0154 a0001c0001t0003g0103 a0001c0001t0003g0137 others(2): Show a0001c0001t0001g0154 a0001c0001t0003g0103 a0001c0001t0003g0137 a0001c0001t0003g0336 a0001c0001t0004g0172	5	283	0.0177	23	c.547 others(38): Show c.547-216_547-194dupTTTTTTTTTTTTTTTTTTTTTTT	CHST15	ENSG00000182022.18	transcript	ENST00000435907.6	protein_coding	2/7			chr10	TogoVar
CHST5_chr16_75523530_75541108	75526185	G G	GTGAGTGT others(16): Show GTGAGTGTGCATGTGAGTGTGCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0015 a0003c0005t0001g0015	1	392	0.0026	23	c.29 others(34): Show c.2963_*2964insATGCACACTCACATGCACACTCA	CHST5	ENSG00000135702.15	transcript	ENST00000336257.8	protein_coding		2344		chr16	TogoVar
CHST8_chr19_33616953_33778506	33695821	C C	CTTTCTTT others(16): Show CTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	143	0.0070	23	c.130 others(40): Show c.130+6433_130+6434insCTTTCTTTCTTTCTTTCTTTTTT	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHST8_chr19_33616953_33778506	33757541	A A	AAAGAAAG others(16): Show AAAGAAAGAGAAAGAAAGAAAGAG	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	250	0.0040	23	c.131 others(42): Show c.131-13864_131-13863insGAAAGAAAGAAAGAGAAGAAAGA	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHTF18_chr16_783620_803074	795580	G G	GCCGCCCC others(16): Show GCCGCCCCGCCCCGCCCCTCCCCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00733.hp2 others(10): Show HG00099.hp1 HG00323.hp2 HG00733.hp2 HG01074.hp2 HG01123.hp2 NA18944.hp1 NA18948.hp1 NA18984.hp1 NA18990.hp1 NA19003.hp1 NA19012.hp2 NA19057.hp2 NA19065.hp2	a0002 a0014 a0002 a0014	a0002c0002 a0014c0029 a0002c0002 a0014c0029	a0002c0002t0001 a0014c0029t0001 a0002c0002t0001 a0014c0029t0001	a0002c0002t0001g0001 a0002c0002t0001g0216 a0002c0002t0001g0237 others(1): Show a0002c0002t0001g0001 a0002c0002t0001g0216 a0002c0002t0001g0237 a0014c0029t0001g0184	13	258	0.0504	23	c.217 others(40): Show c.2176-103_2176-102insGCCCCGCCCCGCCCCTCCCCTCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CIART_chr1_150277554_150292093	150284003	T T	TTTATTAT others(16): Show TTTATTATTATTATTATTATTTTA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0042 a0001c0001t0004g0042	1	354	0.0028	23	c.442 others(38): Show c.442+143_442+144insTTATTATTATTATTATTATTATT	CIART	ENSG00000159208.16	transcript	ENST00000290363.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
CIB4_chr2_26576205_26646366	26590258	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01358.hp2 HG01081.hp1 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0221 a0001c0001t0002g0230 a0001c0001t0002g0221 a0001c0001t0002g0230	2	58	0.0345	23	c.328 others(40): Show c.328+4895_328+4917dupTTTTTTTTTTTTTTTTTTTTTTT	CIB4	ENSG00000157884.11	transcript	ENST00000288861.5	protein_coding	4/6			chr2	TogoVar
CIT_chr12_119680791_119882320	119717838	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	82	0.0122	23	c.416 others(40): Show c.4168+406_4168+407insAAAAAAAAAAAAAAAAAAAAAAA	CIT	ENSG00000122966.18	transcript	ENST00000392521.7	protein_coding	32/47			chr12	TogoVar
CIT_chr12_119680791_119882320	119731840	A A	ATATATAT others(16): Show ATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02965.hp2 HG02280.hp2 HG02965.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0007 a0002c0004t0019 a0002c0004t0007 a0002c0004t0019	a0002c0004t0007g0053 a0002c0004t0019g0051 a0002c0004t0007g0053 a0002c0004t0019g0051	2	221	0.0090	23	c.335 others(42): Show c.3351-1211_3351-1210insGTATATATATATATATATATATA	CIT	ENSG00000122966.18	transcript	ENST00000392521.7	protein_coding	26/47			chr12	TogoVar
CIT_chr12_119680791_119882320	119745374	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02818.hp1 HG02896.hp2 others(1): Show HG02647.hp2 HG02818.hp1 HG02896.hp2 HG02922.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0002c0016 a0001c0005 a0002c0016	a0001c0005t0008 a0002c0016t0001 a0001c0005t0008 a0002c0016t0001	a0001c0005t0008g0021 a0001c0005t0008g0085 a0002c0016t0001g0014 others(1): Show a0001c0005t0008g0021 a0001c0005t0008g0085 a0002c0016t0001g0014 a0002c0016t0001g0061	4	10	0.4000	23	c.290 others(42): Show c.2905-2933_2905-2911dupTTTTTTTTTTTTTTTTTTTTTTT	CIT	ENSG00000122966.18	transcript	ENST00000392521.7	protein_coding	23/47			chr12	TogoVar
CIT_chr12_119680791_119882320	119862832	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAGAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0004 a0004	a0004c0019 a0004c0019	a0004c0019t0003 a0004c0019t0003	a0004c0019t0003g0002 a0004c0019t0003g0002	1	233	0.0043	23	c.239 others(40): Show c.239-5135_239-5134insCTTTTTTTTCTTTTTTTTTTTTT	CIT	ENSG00000122966.18	transcript	ENST00000392521.7	protein_coding	3/47			chr12	TogoVar
CKAP4_chr12_106232881_106253020	106237526	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG02055.hp2 HG02647.hp1 others(8): Show HG00639.hp2 HG02055.hp2 HG02647.hp1 HG02970.hp1 HG03017.hp2 HG03225.hp2 HG03453.hp1 HG03516.hp1 HG03704.hp2 NA18950.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 a0001c0002 a0001c0003 a0001c0004	a0001c0002t0002 a0001c0002t0003 a0001c0003t0006 others(3): Show a0001c0002t0002 a0001c0002t0003 a0001c0003t0006 a0001c0003t0007 a0001c0003t0025 a0001c0004t0009	a0001c0002t0002g0004 a0001c0002t0002g0090 a0001c0002t0003g0003 others(5): Show a0001c0002t0002g0004 a0001c0002t0002g0090 a0001c0002t0003g0003 a0001c0002t0003g0034 a0001c0003t0006g0008 a0001c0003t0007g0102 a0001c0003t0025g0044 a0001c0004t0009g0126	11	146	0.0753	23	c.14 others(34): Show c.1497_*1498insTTTTTTTTTTTTTTTTTTTTTTT	CKAP4	ENSG00000136026.14	transcript	ENST00000378026.5	protein_coding		354		chr12	TogoVar
CLASP2_chr3_33491245_33723254	33568553	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02083.hp1 HG02809.hp2 others(7): Show HG01361.hp1 HG02083.hp1 HG02809.hp2 HG02896.hp1 HG03579.hp2 HG04228.hp2 NA18965.hp2 NA19000.hp2 NA19079.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0011 a0001c0008t0001	a0001c0001t0002g0060 a0001c0001t0002g0063 a0001c0001t0002g0065 others(7): Show a0001c0001t0002g0060 a0001c0001t0002g0063 a0001c0001t0002g0065 a0001c0001t0002g0068 a0001c0001t0003g0030 a0001c0001t0004g0226 a0001c0001t0004g0227 a0001c0001t0010g0001 a0001c0001t0011g0062 a0001c0008t0001g0004	10	130	0.0769	23	c.276 others(42): Show c.2764-1820_2764-1819insTTTTTTTTTTTTTTTTTTTTTTT	CLASP2	ENSG00000163539.19	transcript	ENST00000682230.1	protein_coding	26/38			chr3	TogoVar
CLASP2_chr3_33491245_33723254	33571015	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18979.hp1 NA18988.hp1 others(2): Show NA18969.hp1 NA18979.hp1 NA18988.hp1 NA19005.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0032 a0001c0001t0003g0034 a0001c0001t0003g0041 others(2): Show a0001c0001t0003g0032 a0001c0001t0003g0034 a0001c0001t0003g0041 a0001c0001t0003g0044 a0001c0001t0003g0045	5	156	0.0321	23	c.270 others(40): Show c.2700-226_2700-225insAAAAAAAAAAAAAAAAAAAAAAA	CLASP2	ENSG00000163539.19	transcript	ENST00000682230.1	protein_coding	25/38			chr3	TogoVar
CLASP2_chr3_33491245_33723254	33713012	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA18971.hp2 HG01884.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0002 a0001c0001t0002 a0001c0004t0002	a0001c0001t0002g0255 a0001c0004t0002g0265 a0001c0001t0002g0255 a0001c0004t0002g0265	2	110	0.0182	23	c.195 others(40): Show c.195+4773_195+4795dupTTTTTTTTTTTTTTTTTTTTTTT	CLASP2	ENSG00000163539.19	transcript	ENST00000682230.1	protein_coding	1/38			chr3	TogoVar
CLASRP_chr19_45034045_45075956	45063436	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01952.hp2 HG03688.hp1 HG01243.hp2 HG01952.hp2 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0284 a0001c0001t0001g0322 a0001c0001t0001g0273 a0001c0001t0001g0284 a0001c0001t0001g0322	3	89	0.0337	23	c.906 others(38): Show c.906-571_906-549dupTTTTTTTTTTTTTTTTTTTTTTT	CLASRP	ENSG00000104859.15	transcript	ENST00000221455.8	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
CLCN4_chrX_10151975_10242660	10212859	A A	ACACACAC others(16): Show ACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0010 a0001c0001t0003g0010	1	262	0.0038	23	c.157 others(40): Show c.1576+206_1576+207insCACACACACACACACACACACAC	CLCN4	ENSG00000073464.13	transcript	ENST00000380833.9	protein_coding	10/12			chrX	TogoVar

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