Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CHM_chrX_85856180_86052558	85856289	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp1 HG01952.hp1 HG02280.hp1 others(3): Show HG01258.hp1 HG01952.hp1 HG02280.hp1 HG02922.hp2 HG04204.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0092 a0001c0001t0001g0101 others(3): Show a0001c0001t0001g0040 a0001c0001t0001g0092 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0216	6	245	0.0245	27	c.83 others(38): Show c.8340_*8341insTTTTTTTTTTTTTTTTTTTTTTTTTTT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding		4890		chrX	TogoVar
CHM_chrX_85856180_86052558	85856298	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	245	0.0041	27	c.83 others(38): Show c.8331_*8332insCTTTTTTTTTTTTTTTTTTTTTTTTTT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding		4881		chrX	TogoVar
CHM_chrX_85856180_86052558	85871320	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0238 a0001c0001t0004g0238	1	245	0.0041	27	c.177 others(46): Show c.1770+1731_1770+1732insCTTTTTTTTTTTTTTTTTTTTTTTTT T	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	14/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85913332	A A	AAAGAAAG others(20): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02602.hp1 HG01891.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0200 a0001c0001t0008g0197 a0001c0001t0001g0200 a0001c0001t0008g0197	2	245	0.0082	27	c.116 others(46): Show c.1167-1995_1167-1994insCTTTCTTTCTTTCTTTCTTTCTTTCT T	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	8/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85949978	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 NA20300.hp2 HG00735.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0013 a0001c0001t0001 a0001c0008t0013	a0001c0001t0001g0131 a0001c0008t0013g0190 a0001c0001t0001g0131 a0001c0008t0013g0190	2	245	0.0082	27	c.116 others(46): Show c.1166+6174_1166+6175insATATATATATATATATATATATATAT A	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	8/14			chrX	TogoVar
CHN2_chr7_29189775_29519328	29511162	A A	ATAAACAG others(20): Show ATAAACAGTAGGTATTGAGATTTTTATT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(189): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01257.hp1 HG01257.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18948.hp1 NA18948.hp2 NA18957.hp1 NA18957.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19005.hp1 NA19005.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19084.hp1 NA19085.hp2 NA19240.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0005 others(5): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0002c0003 a0002c0004 a0002c0009 a0003c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(34): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0019 a0001c0001t0023 a0001c0001t0028 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0010 a0001c0002t0014 a0001c0002t0016 a0001c0002t0020 a0001c0002t0026 a0001c0002t0027 a0001c0005t0001 a0001c0005t0005 a0001c0005t0007 a0001c0006t0002 a0001c0006t0022 a0002c0003t0002 a0002c0003t0018 a0002c0003t0021 a0002c0004t0001 a0002c0004t0005 a0002c0004t0006 a0002c0004t0007 a0002c0004t0012 a0002c0004t0017 a0002c0009t0002 a0003c0007t0013	a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0015 others(189): Show a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0034 a0001c0001t0001g0064 a0001c0001t0001g0076 a0001c0001t0001g0082 a0001c0001t0001g0103 a0001c0001t0001g0120 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0136 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0160 a0001c0001t0001g0166 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0213 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0003g0014 a0001c0001t0003g0016 a0001c0001t0003g0032 a0001c0001t0003g0044 a0001c0001t0003g0049 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0079 a0001c0001t0003g0087 a0001c0001t0003g0093 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0108 a0001c0001t0003g0109 a0001c0001t0003g0111 a0001c0001t0003g0138 a0001c0001t0003g0143 a0001c0001t0003g0161 a0001c0001t0003g0194 a0001c0001t0003g0200 a0001c0001t0003g0204 a0001c0001t0003g0214 a0001c0001t0003g0231 a0001c0001t0005g0006 a0001c0001t0005g0018 a0001c0001t0005g0023 a0001c0001t0005g0028 a0001c0001t0005g0127 a0001c0001t0005g0129 a0001c0001t0005g0133 a0001c0001t0005g0156 a0001c0001t0005g0159 a0001c0001t0005g0174 a0001c0001t0005g0179 a0001c0001t0005g0181 a0001c0001t0005g0193 a0001c0001t0006g0001 a0001c0001t0006g0020 a0001c0001t0006g0036 a0001c0001t0006g0037 a0001c0001t0006g0039 a0001c0001t0006g0066 a0001c0001t0006g0144 a0001c0001t0006g0145 a0001c0001t0006g0147 a0001c0001t0006g0153 a0001c0001t0006g0162 a0001c0001t0006g0217 a0001c0001t0006g0226 a0001c0001t0006g0227 a0001c0001t0007g0003 a0001c0001t0007g0022 a0001c0001t0007g0075 a0001c0001t0007g0116 a0001c0001t0007g0122 a0001c0001t0007g0123 a0001c0001t0007g0205 a0001c0001t0007g0212 a0001c0001t0007g0222 a0001c0001t0007g0223 a0001c0001t0008g0008 a0001c0001t0008g0010 a0001c0001t0008g0011 a0001c0001t0008g0065 a0001c0001t0008g0131 a0001c0001t0008g0139 a0001c0001t0008g0176 a0001c0001t0008g0178 a0001c0001t0008g0228 a0001c0001t0008g0229 a0001c0001t0009g0017 a0001c0001t0009g0043 a0001c0001t0009g0054 a0001c0001t0009g0090 a0001c0001t0009g0091 a0001c0001t0009g0158 a0001c0001t0009g0232 a0001c0001t0010g0125 a0001c0001t0012g0040 a0001c0001t0012g0055 a0001c0001t0012g0056 a0001c0001t0012g0170 a0001c0001t0012g0172 a0001c0001t0019g0115 a0001c0001t0023g0206 a0001c0001t0028g0050 a0001c0002t0001g0085 a0001c0002t0001g0134 a0001c0002t0002g0002 a0001c0002t0002g0007 a0001c0002t0002g0027 a0001c0002t0002g0030 a0001c0002t0002g0041 a0001c0002t0002g0045 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0081 a0001c0002t0002g0083 a0001c0002t0002g0086 a0001c0002t0002g0098 a0001c0002t0002g0100 a0001c0002t0002g0105 a0001c0002t0002g0148 a0001c0002t0002g0149 a0001c0002t0002g0150 a0001c0002t0002g0163 a0001c0002t0002g0165 a0001c0002t0002g0168 a0001c0002t0002g0171 a0001c0002t0002g0177 a0001c0002t0002g0189 a0001c0002t0002g0208 a0001c0002t0002g0215 a0001c0002t0002g0219 a0001c0002t0005g0173 a0001c0002t0005g0218 a0001c0002t0010g0061 a0001c0002t0010g0062 a0001c0002t0010g0155 a0001c0002t0010g0167 a0001c0002t0010g0210 a0001c0002t0010g0220 a0001c0002t0014g0019 a0001c0002t0014g0067 a0001c0002t0014g0102 a0001c0002t0016g0048 a0001c0002t0020g0052 a0001c0002t0026g0209 a0001c0002t0027g0060 a0001c0005t0001g0051 a0001c0005t0001g0137 a0001c0005t0001g0185 a0001c0005t0005g0114 a0001c0005t0005g0151 a0001c0005t0007g0092 a0001c0006t0002g0197 a0001c0006t0002g0198 a0001c0006t0022g0119 a0002c0003t0002g0069 a0002c0003t0002g0070 a0002c0003t0002g0142 a0002c0003t0002g0154 a0002c0003t0018g0047 a0002c0003t0021g0112 a0002c0004t0001g0031 a0002c0004t0001g0038 a0002c0004t0001g0059 a0002c0004t0001g0121 a0002c0004t0005g0175 a0002c0004t0005g0202 a0002c0004t0005g0211 a0002c0004t0006g0113 a0002c0004t0007g0084 a0002c0004t0007g0094 a0002c0004t0007g0157 a0002c0004t0012g0180 a0002c0004t0017g0128 a0002c0009t0002g0033 a0003c0007t0013g0013 a0003c0007t0013g0035 a0003c0007t0013g0135	192	232	0.8276	27	c.123 others(46): Show c.1236-1400_1236-1374dupAAACAGTAGGTATTGAGATTTTTATT T	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHRFAM7A_chr15_30355566_30398540	30376068	T T	TGTATGAG others(20): Show TGTATGAGTGGTGTGAGTAGTGTGAGTG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02559.hp2 HG02895.hp1 others(5): Show HG01069.hp1 HG02559.hp2 HG02895.hp1 HG02897.hp1 HG03041.hp1 HG03209.hp2 HG03540.hp2 NA19043.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0005 a0005c0005t0027 a0005c0005t0005 a0005c0005t0027	a0005c0005t0005g0037 a0005c0005t0005g0038 a0005c0005t0005g0039 others(5): Show a0005c0005t0005g0037 a0005c0005t0005g0038 a0005c0005t0005g0039 a0005c0005t0005g0040 a0005c0005t0005g0041 a0005c0005t0005g0042 a0005c0005t0005g0043 a0005c0005t0027g0044	8	133	0.0602	27	c.160 others(42): Show c.160+935_160+961dupCACTCACACTACTCACACCACTCATAC	CHRFAM7A	ENSG00000166664.15	transcript	ENST00000299847.7	protein_coding	5/9			chr15	TogoVar
CHRM2_chr7_136863652_137025213	136921794	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01167.hp1 HG01168.hp1 others(7): Show HG01074.hp1 HG01167.hp1 HG01168.hp1 HG02559.hp1 HG03704.hp1 NA18747.hp2 NA18954.hp1 NA18973.hp2 NA18980.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0041 a0001c0001t0050 a0001c0001t0066	a0001c0001t0001g0004 a0001c0001t0001g0284 a0001c0001t0003g0222 others(7): Show a0001c0001t0001g0004 a0001c0001t0001g0284 a0001c0001t0003g0222 a0001c0001t0004g0075 a0001c0001t0007g0288 a0001c0001t0008g0084 a0001c0001t0008g0091 a0001c0001t0041g0318 a0001c0001t0050g0085 a0001c0001t0066g0044	10	320	0.0313	27	c.-12 others(48): Show c.-125+52384_-125+52385insTTTTTTTTTTTTTTTTTTTTTTTT TTT	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHRM3_chr1_239381568_239920450	239383054	G G	GTCTCTCT others(20): Show GTCTCTCTCTTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp2 HG03927.hp1 HG03710.hp2 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0023 a0001c0001t0010 a0001c0001t0023	a0001c0001t0010g0103 a0001c0001t0023g0007 a0001c0001t0010g0103 a0001c0001t0023g0007	2	116	0.0172	27	c.-46 others(38): Show c.-4694_-4693insTCTCTCTCTTCTCTCTCTCTCTCTCTC	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding		3513		chr1	TogoVar
CHRM3_chr1_239381568_239920450	239385815	C C	CTCTTTCT others(20): Show CTCTTTCTTTCTTTCTTTCTTTCTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG01106.hp1 HG02083.hp2 others(4): Show HG00140.hp1 HG01106.hp1 HG02083.hp2 HG02109.hp2 HG02615.hp2 HG02818.hp2 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 a0001c0001t0020 a0001c0001t0031 a0001c0001t0034 a0001c0001t0051	a0001c0001t0002g0061 a0001c0001t0004g0035 a0001c0001t0012g0049 others(4): Show a0001c0001t0002g0061 a0001c0001t0004g0035 a0001c0001t0012g0049 a0001c0001t0020g0036 a0001c0001t0031g0116 a0001c0001t0034g0089 a0001c0001t0051g0034	7	116	0.0603	27	c.-19 others(38): Show c.-1933_-1932insTCTTTCTTTCTTTCTTTCTTTCTTCTT	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding		752		chr1	TogoVar
CHRM3_chr1_239381568_239920450	239404410	A A	AAGAAAGA others(20): Show AAGAAAGAAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0012 a0002c0002t0002g0012	1	116	0.0086	27	c.-52 others(48): Show c.-521+17184_-521+17185insGAAAGAAAAGAAAGAAAGAAAGAA AGA	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRM3_chr1_239381568_239920450	239662893	C C	CTCTTCTT others(20): Show CTCTTCTTCTTCTTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA18955.hp2 NA19030.hp1 others(2): Show HG03041.hp2 NA18955.hp2 NA19030.hp1 NA19043.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0017 a0001c0001t0021 others(1): Show a0001c0001t0005 a0001c0001t0017 a0001c0001t0021 a0001c0001t0061	a0001c0001t0005g0053 a0001c0001t0005g0073 a0001c0001t0017g0004 others(2): Show a0001c0001t0005g0053 a0001c0001t0005g0073 a0001c0001t0017g0004 a0001c0001t0021g0019 a0001c0001t0061g0027	5	116	0.0431	27	c.-24 others(48): Show c.-249-15280_-249-15254dupTCTTCTTCTTCTTCTTCTTCTTCT TCT	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRM3_chr1_239381568_239920450	239874291	A A	ATATATAT others(20): Show ATATATATATATATATCTATATACACAG	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 NA19240.hp2 HG01256.hp2 HG01258.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0061 a0001c0001t0002 a0001c0001t0061	a0001c0001t0002g0037 a0001c0001t0002g0051 a0001c0001t0061g0027 a0001c0001t0002g0037 a0001c0001t0002g0051 a0001c0001t0061g0027	3	116	0.0259	27	c.-19 others(46): Show c.-19-33127_-19-33126insCTATATACACAGTATATATATATATA T	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRNA1_chr2_174742592_174769472	174768260	A A	ATATATGT others(20): Show ATATATGTAAACATATACAATAAATTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	370	0.0027	27	c.-38 others(38): Show c.-3893_-3867dupATAATTTATTGTATATGTTTACATATA	CHRNA1	ENSG00000138435.16	transcript	ENST00000348749.9	protein_coding		3789		chr2	TogoVar
CHRNA5_chr15_78560520_78600269	78570424	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0203 a0002c0002t0003g0203	1	382	0.0026	27	c.106 others(44): Show c.106+4624_106+4625insTTTTTTTTTTTTTTTTTTTTTTTTTTT	CHRNA5	ENSG00000169684.13	transcript	ENST00000299565.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
CHRNB3_chr8_42692366_42742407	42703435	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0144 a0001c0001t0002g0144	1	282	0.0036	27	c.53- others(42): Show c.53-5281_53-5280insAAAAAAAAAAAAAAATATATATATATA	CHRNB3	ENSG00000147432.7	transcript	ENST00000289957.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
CHRNB3_chr8_42692366_42742407	42703435	A A	AAAAAAAA others(20): Show AAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01496.hp1 HG03017.hp2 others(1): Show HG00673.hp2 HG01496.hp1 HG03017.hp2 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0150 a0001c0001t0002g0172 a0001c0001t0002g0173 others(1): Show a0001c0001t0002g0150 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174	4	282	0.0142	27	c.53- others(42): Show c.53-5281_53-5280insAAAAAAAAATATATATATATATATATA	CHRNB3	ENSG00000147432.7	transcript	ENST00000289957.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
CHRNB3_chr8_42692366_42742407	42703435	A A	AAAAAAAA others(20): Show AAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03942.hp2 NA18522.hp2 HG03942.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0205 a0001c0001t0002g0206	2	282	0.0071	27	c.53- others(42): Show c.53-5281_53-5280insAAAAAAATATATATATATATATATATA	CHRNB3	ENSG00000147432.7	transcript	ENST00000289957.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
CHRNB3_chr8_42692366_42742407	42703435	A A	AAAAAAAT others(20): Show AAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG02486.hp1 others(1): Show HG01069.hp2 HG01071.hp1 HG02486.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0146 a0001c0001t0002g0220 a0001c0001t0002g0221 others(1): Show a0001c0001t0002g0146 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222	4	282	0.0142	27	c.53- others(42): Show c.53-5281_53-5280insAAAAATATATATATATATATATATATA	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(20): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01496.hp2 NA18961.hp1 HG01257.hp1 HG01496.hp2 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0149 a0001c0001t0002g0179 a0001c0001t0002g0225 a0001c0001t0002g0149 a0001c0001t0002g0179 a0001c0001t0002g0225	3	282	0.0106	27	c.249 others(44): Show c.249+6971_249+6972insAAAAAAAAAAAAAAAAAAAAAAAAGAA	CHRNB3	ENSG00000147432.7	transcript	ENST00000289957.3	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
CHST11_chr12_104451948_104767014	104575246	T T	TCCCAGGG others(20): Show TCCCAGGGTGACGGGGCTTTGTGTTTGC	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	240	0.0042	27	c.119 others(46): Show c.119-26657_119-26631dupCAGGGTGACGGGGCTTTGTGTTTGCC C	CHST11	ENSG00000171310.11	transcript	ENST00000303694.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
CHST15_chr10_124002668_124098598	124045112	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01496.hp2 HG02129.hp1 HG01261.hp1 HG01496.hp2 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0004 a0001c0004t0007 a0001c0001t0001 a0001c0001t0004 a0001c0004t0007	a0001c0001t0001g0278 a0001c0001t0004g0130 a0001c0004t0007g0126 a0001c0001t0001g0278 a0001c0001t0004g0130 a0001c0004t0007g0126	3	392	0.0077	27	c.547 others(42): Show c.547-220_547-194dupTTTTTTTTTTTTTTTTTTTTTTTTTTT	CHST15	ENSG00000182022.18	transcript	ENST00000435907.6	protein_coding	2/7			chr10	TogoVar
CHST8_chr19_33616953_33778506	33618626	C C	CTCTTCTT others(20): Show CTCTTCTTCTTCTTCCTCTTCTTCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp2 HG03831.hp2 NA18990.hp1 HG01358.hp2 HG03831.hp2 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0011 a0001c0001t0004 a0001c0001t0011	a0001c0001t0004g0007 a0001c0001t0004g0010 a0001c0001t0011g0004 a0001c0001t0004g0007 a0001c0001t0004g0010 a0001c0001t0011g0004	3	254	0.0118	27	c.-38 others(38): Show c.-3834_-3833insTCTTCTTCTTCTTCCTCTTCTTCTTCT	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding		3326		chr19	TogoVar
CHST8_chr19_33616953_33778506	33618626	C C	CTCTTCTT others(20): Show CTCTTCTTCTTCTTCTTCTTCTTCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	254	0.0039	27	c.-38 others(38): Show c.-3834_-3833insTCTTCTTCTTCTTCTTCTTCTTCTTCT	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding		3326		chr19	TogoVar
CHST8_chr19_33616953_33778506	33757504	A A	AGAGAGAG others(20): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0173 a0001c0001t0004g0173	1	254	0.0039	27	c.131 others(46): Show c.131-13909_131-13908insGAGAGAGAGAGAGAGAGAGAGAGAGA G	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4			chr19	TogoVar
CHST9_chr18_26901481_27190308	27053256	A A	AAGAAGAA others(20): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGG	intron_variant intron_variant	MODIFIER	HG00741.hp2 NA19060.hp1 NA19070.hp2 HG00741.hp2 NA19060.hp1 NA19070.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0004 a0001c0001t0008 a0002c0003t0054 a0001c0001t0004 a0001c0001t0008 a0002c0003t0054	a0001c0001t0004g0113 a0001c0001t0008g0183 a0002c0003t0054g0112 a0001c0001t0004g0113 a0001c0001t0008g0183 a0002c0003t0054g0112	3	262	0.0115	27	c.122 others(44): Show c.122-4754_122-4753insCCTTCTTCTTCTTCTTCTTCTTCTTCT	CHST9	ENSG00000154080.14	transcript	ENST00000618847.5	protein_coding	2/5			chr18	TogoVar
CHST9_chr18_26901481_27190308	27053256	A A	AAGAAGAA others(20): Show AAGAAGAAGAAGAAGAAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0059	1	262	0.0038	27	c.122 others(44): Show c.122-4754_122-4753insCCTTCTCCTTCTTCTTCTTCTTCTTCT	CHST9	ENSG00000154080.14	transcript	ENST00000618847.5	protein_coding	2/5			chr18	TogoVar
CHST9_chr18_26901481_27190308	27053256	A A	AAGAAGAA others(20): Show AAGAAGAAGAAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0200 a0001c0001t0004g0200	1	262	0.0038	27	c.122 others(44): Show c.122-4754_122-4753insCCTTCTCCTTCTCCTTCTTCTTCTTCT	CHST9	ENSG00000154080.14	transcript	ENST00000618847.5	protein_coding	2/5			chr18	TogoVar
CHST9_chr18_26901481_27190308	27053275	A A	AGAAGAAG others(20): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0094 a0001c0001t0005g0094	1	262	0.0038	27	c.122 others(44): Show c.122-4773_122-4772insCTCTTCTTCTTCTTCTTCTTCTTCTTC	CHST9	ENSG00000154080.14	transcript	ENST00000618847.5	protein_coding	2/5			chr18	TogoVar
CHSY1_chr15_101170727_101257048	101251479	G G	GGCCGCCG others(20): Show GGCCGCCGCCGCCGCCGCCGCCGCCGCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG01175.hp2 others(8): Show HG00323.hp1 HG00408.hp2 HG01175.hp2 HG01243.hp1 HG01993.hp2 HG02132.hp1 HG03225.hp2 HG03490.hp2 HG03579.hp2 HG04199.hp1 NA19240.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0003 a0001c0004 a0001c0013 others(2): Show a0001c0003 a0001c0004 a0001c0013 a0002c0002 a0004c0007	a0001c0003t0053 a0001c0004t0014 a0001c0013t0021 others(3): Show a0001c0003t0053 a0001c0004t0014 a0001c0013t0021 a0002c0002t0028 a0004c0007t0014 a0004c0007t0021	a0001c0003t0053g0303 a0001c0004t0014g0309 a0001c0004t0014g0310 others(8): Show a0001c0003t0053g0303 a0001c0004t0014g0309 a0001c0004t0014g0310 a0001c0004t0014g0311 a0001c0004t0014g0312 a0001c0013t0021g0313 a0002c0002t0028g0307 a0002c0002t0028g0308 a0004c0007t0014g0306 a0004c0007t0021g0304 a0004c0007t0021g0305	11	422	0.0261	27	c.-24 others(34): Show c.-24_-23insGGCGGCGGCGGCGGCGGCGGCGGCGGC	CHSY1	ENSG00000131873.7	transcript	ENST00000254190.4	protein_coding	1/3	24		chr15	TogoVar
CIART_chr1_150277554_150292093	150284003	T T	TTTATTAT others(20): Show TTTATTATTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03486.hp2 HG02922.hp1 HG03486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0024 a0001c0003t0005g0024	2	416	0.0048	27	c.442 others(42): Show c.442+126_442+152dupATTATTATTATTATTATTATTATTATT	CIART	ENSG00000159208.16	transcript	ENST00000290363.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
CIBAR2_chr16_85093358_85117472	85098649	T T	TTTTCCTG others(20): Show TTTTCCTGGGCTCCATATGGTGCTCTGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0122 a0001c0001t0019g0122	1	436	0.0023	27	c.50 others(36): Show c.509_*535dupTCAGAGCACCATATGGAGCCCAGGAAA	CIBAR2	ENSG00000153789.14	transcript	ENST00000539556.6	protein_coding	9/9	535		chr16	TogoVar
CIP2A_chr3_108544864_108594438	108553894	T T	TACAAAAA others(20): Show TACAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp2 HG00733.hp1 others(14): Show HG00099.hp1 HG00639.hp2 HG00733.hp1 HG00738.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01516.hp1 HG01934.hp1 HG01952.hp2 HG01978.hp2 HG02148.hp1 HG03491.hp2 HG04199.hp1 NA18906.hp1 NA18951.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0036 a0001c0001t0001g0101 a0001c0001t0001g0106 others(14): Show a0001c0001t0001g0036 a0001c0001t0001g0101 a0001c0001t0001g0106 a0001c0001t0001g0112 a0001c0001t0001g0128 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0211 a0001c0001t0004g0328 a0001c0001t0004g0331 a0001c0001t0004g0332 a0001c0001t0004g0333 a0001c0001t0004g0334 a0001c0001t0004g0335 a0001c0001t0004g0347 a0001c0001t0004g0348	17	372	0.0457	27	c.232 others(44): Show c.2325-165_2325-164insTTTTTTTTTTTTTTTTTTTTTTTTTGT	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	18/20			chr3	TogoVar
CIT_chr12_119680791_119882320	119731840	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0007 a0002c0004t0007	a0002c0004t0007g0033 a0002c0004t0007g0033	1	236	0.0042	27	c.335 others(46): Show c.3351-1211_3351-1210insGTATATATATATATATATATATATAT A	CIT	ENSG00000122966.18	transcript	ENST00000392521.7	protein_coding	26/47			chr12	TogoVar
CKAP4_chr12_106232881_106253020	106237526	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG02074.hp1 HG02451.hp1 others(4): Show HG00642.hp1 HG02074.hp1 HG02451.hp1 HG02630.hp1 HG03688.hp2 NA18940.hp1 NA18972.hp2	a0002 a0003 a0007 a0002 a0003 a0007	a0002c0002 a0003c0003 a0007c0011 a0002c0002 a0003c0003 a0007c0011	a0002c0002t0002 a0002c0002t0003 a0003c0003t0042 others(1): Show a0002c0002t0002 a0002c0002t0003 a0003c0003t0042 a0007c0011t0002	a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0003g0003 others(3): Show a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0003g0003 a0002c0002t0003g0078 a0003c0003t0042g0111 a0007c0011t0002g0128	7	418	0.0168	27	c.14 others(38): Show c.1497_*1498insTTTTTTTTTTTTTTTTTTTTTTTTTTT	CKAP4	ENSG00000136026.14	transcript	ENST00000378026.5	protein_coding		354		chr12	TogoVar
CKAP4_chr12_106232881_106253020	106237533	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0003 a0002c0002t0003g0003	1	418	0.0024	27	c.14 others(38): Show c.1490_*1491insGTTTTTTTTTTTTTTTTTTTTTTTTTT	CKAP4	ENSG00000136026.14	transcript	ENST00000378026.5	protein_coding		347		chr12	TogoVar
CKMT1A_chr15_43688859_43704222	43689958	G G	GCCCCCAG others(20): Show GCCCCCAGCCCCAGCCACTCCCTCACTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00642.hp1 HG02055.hp1 others(27): Show HG00423.hp1 HG00642.hp1 HG02055.hp1 HG02083.hp2 HG02145.hp2 HG02970.hp2 HG02976.hp1 HG03130.hp1 HG03195.hp1 HG03486.hp1 HG03579.hp2 HG06807.hp1 NA18522.hp2 NA18941.hp2 NA18949.hp1 NA18951.hp1 NA18959.hp1 NA18960.hp2 NA18962.hp2 NA18965.hp1 NA18966.hp2 NA18967.hp1 NA18985.hp2 NA18989.hp1 NA18995.hp1 NA19004.hp2 NA19054.hp2 NA19063.hp2 NA19240.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0010 others(4): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0035 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0003g0002	30	392	0.0765	27	c.-40 others(38): Show c.-4093_-4092insCCCCCAGCCCCAGCCACTCCCTCACTT	CKMT1A	ENSG00000223572.10	transcript	ENST00000413453.7	protein_coding		3900		chr15	TogoVar
CKMT2_chr5_81228322_81271398	81250940	A A	ACACACAC others(20): Show ACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0250 a0001c0001t0002g0250	1	356	0.0028	27	c.-20 others(42): Show c.-20-173_-20-172insCACACACACACACACACACACACACAC	CKMT2	ENSG00000131730.16	transcript	ENST00000254035.9	protein_coding	1/9			chr5	TogoVar
CLASP2_chr3_33491245_33723254	33568553	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02040.hp2 HG02165.hp2 others(2): Show HG00609.hp2 HG02040.hp2 HG02165.hp2 HG02895.hp1 NA18988.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0009 a0001c0001 a0003c0009	a0001c0001t0003 a0001c0001t0013 a0003c0009t0003 a0001c0001t0003 a0001c0001t0013 a0003c0009t0003	a0001c0001t0003g0015 a0001c0001t0003g0044 a0001c0001t0003g0071 others(2): Show a0001c0001t0003g0015 a0001c0001t0003g0044 a0001c0001t0003g0071 a0001c0001t0013g0055 a0003c0009t0003g0146	5	278	0.0180	27	c.276 others(46): Show c.2764-1820_2764-1819insTTTTTTTTTTTTTTTTTTTTTTTTTT T	CLASP2	ENSG00000163539.19	transcript	ENST00000682230.1	protein_coding	26/38			chr3	TogoVar
CLASP2_chr3_33491245_33723254	33571015	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 NA18972.hp1 NA19077.hp2 HG00323.hp1 NA18972.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0017 a0001c0001 a0001c0017	a0001c0001t0002 a0001c0017t0003 a0001c0001t0002 a0001c0017t0003	a0001c0001t0002g0020 a0001c0001t0002g0023 a0001c0017t0003g0034 a0001c0001t0002g0020 a0001c0001t0002g0023 a0001c0017t0003g0034	3	278	0.0108	27	c.270 others(44): Show c.2700-226_2700-225insAAAAAAAAAAAAAAAAAAAAAAAAAAA	CLASP2	ENSG00000163539.19	transcript	ENST00000682230.1	protein_coding	25/38			chr3	TogoVar
CLCA4_chr1_86542078_86585754	86580764	T T	TGTAGGTA others(20): Show TGTAGGTATTATTAAGTATAAATTGATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0132 a0001c0001t0005g0132	1	334	0.0030	27	c.41 others(36): Show c.419_*420insGTAGGTATTATTAAGTATAAATTGATG	CLCA4	ENSG00000016602.9	transcript	ENST00000370563.3	protein_coding		11		chr1	TogoVar
CLCN7_chr16_1439935_1480028	1440500	G G	GAAGAGAA others(20): Show GAAGAGAAGAGAAGAGAAGAGAACAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 HG03195.hp2 NA18522.hp1 HG01978.hp1 HG03195.hp2 NA18522.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0026 a0002c0006t0051 a0002c0006t0026 a0002c0006t0051	a0002c0006t0026g0261 a0002c0006t0026g0262 a0002c0006t0051g0259 a0002c0006t0026g0261 a0002c0006t0026g0262 a0002c0006t0051g0259	3	404	0.0074	27	c.61 others(38): Show c.6130_*6131insTTCTGTTCTCTTCTCTTCTCTTCTCTT	CLCN7	ENSG00000103249.19	transcript	ENST00000382745.9	protein_coding		4434		chr16	TogoVar
CLEC16A_chr16_10939564_11187186	11029459	C C	CCAGACTC others(20): Show CCAGACTCTGCCTTCTCTGAGAGAACCA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	274	0.0037	27	c.153 others(46): Show c.1537+4542_1537+4568dupACTCTGCCTTCTCTGAGAGAACCACA G	CLEC16A	ENSG00000038532.17	transcript	ENST00000409790.6	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CLEC18C_chr16_70168787_70191895	70178067	C C	CAGCTCAT others(20): Show CAGCTCATTTTTTTGTATTTTTAGTAGA	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0196 a0003c0003t0001g0196	1	355	0.0028	27	c.456 others(42): Show c.456+588_456+614dupAGCTCATTTTTTTGTATTTTTAGTAGA	CLEC18C	ENSG00000157335.21	transcript	ENST00000541793.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
CLEC18C_chr16_70168787_70191895	70180327	A A	AAAGTGCT others(20): Show AAAGTGCTGGGATTACAGACAGCCTCCC	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0023 a0023	a0023c0016 a0023c0016	a0023c0016t0010 a0023c0016t0010	a0023c0016t0010g0146 a0023c0016t0010g0146	1	355	0.0028	27	c.457 others(44): Show c.457-1505_457-1504insCAGCCTCCCAAGTGCTGGGATTACAGA	CLEC18C	ENSG00000157335.21	transcript	ENST00000541793.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
CLEC4A_chr12_8118617_8143607	8135047	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03540.hp2 NA19030.hp2 HG03453.hp1 HG03540.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0005 a0001c0001t0002 a0002c0002t0005	a0001c0001t0002g0208 a0001c0001t0002g0232 a0002c0002t0005g0079 a0001c0001t0002g0208 a0001c0001t0002g0232 a0002c0002t0005g0079	3	458	0.0066	27	c.299 others(42): Show c.299-516_299-515insTTTTTTTTTTTTTTTTTTTTTTTTTTT	CLEC4A	ENSG00000111729.15	transcript	ENST00000229332.12	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
CLEC4C_chr12_7724383_7752375	7750822	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0008	a0001c0005t0008g0258 a0001c0005t0008g0258	1	448	0.0022	27	c.-34 others(38): Show c.-3475_-3474insTTTTTTTTTTTTTTTTTTTTTTTTTTT	CLEC4C	ENSG00000198178.11	transcript	ENST00000360345.8	protein_coding		3448		chr12	TogoVar
CLEC4G_chr19_7723957_7737110	7732906	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	432	0.0023	27	c.-80 others(36): Show c.-805_-804insATATATATATATATTTTTTTTTTTTTT	CLEC4G	ENSG00000182566.15	transcript	ENST00000328853.11	protein_coding		797		chr19	TogoVar
CLEC4G_chr19_7723957_7737110	7732906	A A	AAAAAAAA others(20): Show AAAAAAAAAAATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01099.hp2 HG01069.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	432	0.0046	27	c.-80 others(36): Show c.-805_-804insATATATATATATATATATTTTTTTTTT	CLEC4G	ENSG00000182566.15	transcript	ENST00000328853.11	protein_coding		797		chr19	TogoVar
CLEC4G_chr19_7723957_7737110	7732906	A A	AAAAAAAA others(20): Show AAAAAAAAATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp2 HG02040.hp1 HG02300.hp2 others(2): Show HG01952.hp2 HG02040.hp1 HG02300.hp2 HG04204.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	5	432	0.0116	27	c.-80 others(36): Show c.-805_-804insATATATATATATATATATATTTTTTTT	CLEC4G	ENSG00000182566.15	transcript	ENST00000328853.11	protein_coding		797		chr19	TogoVar

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