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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Select column to sort.

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
AGPS_chr2_177387773_177548834	177436139	A A	ATTTTTTT others(3): Show ATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG00544.hp2 others(44): Show HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00639.hp2 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01109.hp2 HG01167.hp1 HG01169.hp2 HG01243.hp1 HG01361.hp2 HG01884.hp2 HG01928.hp1 HG01978.hp2 HG02027.hp1 HG02280.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02630.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02818.hp1 HG02895.hp2 HG02897.hp2 HG02970.hp1 HG03453.hp2 HG03471.hp2 HG04184.hp2 HG04199.hp1 HG06807.hp1 NA18522.hp2 NA18944.hp1 NA18949.hp2 NA18972.hp1 NA18980.hp1 NA18981.hp2 NA18999.hp1 NA19000.hp1 NA19009.hp1 NA19010.hp1 NA19088.hp2 NA19090.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 others(16): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0016 a0001c0001t0018 a0001c0001t0020 a0001c0001t0022 a0001c0001t0024 a0001c0001t0029 a0001c0001t0038 a0001c0001t0041 a0001c0001t0042 a0001c0001t0044 a0001c0001t0049 a0001c0001t0050 a0001c0002t0034	a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0001t0001g0103 others(44): Show a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0117 a0001c0001t0001g0121 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0191 a0001c0001t0005g0200 a0001c0001t0005g0250 a0001c0001t0005g0251 a0001c0001t0008g0217 a0001c0001t0008g0218 a0001c0001t0008g0220 a0001c0001t0009g0091 a0001c0001t0009g0162 a0001c0001t0010g0205 a0001c0001t0013g0018 a0001c0001t0016g0212 a0001c0001t0018g0221 a0001c0001t0020g0126 a0001c0001t0022g0134 a0001c0001t0022g0135 a0001c0001t0024g0098 a0001c0001t0024g0174 a0001c0001t0029g0166 a0001c0001t0038g0181 a0001c0001t0041g0099 a0001c0001t0042g0148 a0001c0001t0044g0149 a0001c0001t0049g0001 a0001c0001t0050g0001 a0001c0002t0034g0211	47	258	0.1822	10	c.442 others(25): Show c.442-615_442-606dupTTTTTTTTTT	AGPS	ENSG00000018510.18	transcript	ENST00000264167.11	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr2	TogoVar
AGPS_chr2_177387773_177548834	177438983	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA19043.hp1 NA21309.hp2 HG03486.hp2 NA19043.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0033 a0001c0001t0035 a0001c0001t0020 a0001c0001t0033 a0001c0001t0035	a0001c0001t0020g0196 a0001c0001t0033g0195 a0001c0001t0035g0017 a0001c0001t0020g0196 a0001c0001t0033g0195 a0001c0001t0035g0017	3	258	0.0116	10	c.637 others(27): Show c.637+1941_637+1950dupCACACACACA	AGPS	ENSG00000018510.18	transcript	ENST00000264167.11	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr2	TogoVar
AGPS_chr2_177387773_177548834	177440151	C C	CCACTACA others(3): Show CCACTACAAGG	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	258	0.0039	10	c.638 others(25): Show c.638-809_638-808insCAAGGCACTA	AGPS	ENSG00000018510.18	transcript	ENST00000264167.11	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr2	TogoVar
AGPS_chr2_177387773_177548834	177543304	G G	GGAATTAA others(3): Show GGAATTAAAAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0099 a0001c0001t0041g0099	1	258	0.0039	10	c.51 others(21): Show c.5109_*5110insGAATTAAAAT	AGPS	ENSG00000018510.18	transcript	ENST00000264167.11	protein_coding	20/20	5110		chr2	TogoVar
AGR2_chr7_16786811_16809999	16791066	G G	GGAGAGGG others(3): Show GGAGAGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG02486.hp1 HG02559.hp1 others(8): Show HG00597.hp1 HG02486.hp1 HG02559.hp1 HG02818.hp1 HG02922.hp1 HG02976.hp1 HG03195.hp1 HG03209.hp1 HG03579.hp1 HG03579.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0166 a0001c0001t0001g0244 a0001c0001t0005g0046 others(7): Show a0001c0001t0001g0166 a0001c0001t0001g0244 a0001c0001t0005g0046 a0001c0001t0005g0080 a0001c0001t0005g0081 a0001c0001t0005g0114 a0001c0001t0005g0116 a0001c0001t0005g0118 a0001c0001t0005g0154 a0001c0001t0005g0218	11	460	0.0239	10	c.18 others(21): Show c.1841_*1842insTCCCCCTCTC	AGR2	ENSG00000106541.12	transcript	ENST00000419304.7	protein_coding		744		chr7	TogoVar
AGR2_chr7_16786811_16809999	16804267	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA20129.hp2 HG02027.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0196 a0001c0001t0003g0197 a0001c0001t0002g0196 a0001c0001t0003g0197	2	460	0.0044	10	c.-8+ others(23): Show c.-8+658_-8+667dupGTGTGTGTGT	AGR2	ENSG00000106541.12	transcript	ENST00000419304.7	protein_coding	1/7			chr7	TogoVar
AGR3_chr7_16854412_16886983	16872042	A A	AGATTCAA others(3): Show AGATTCAATGC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	458	0.0022	10	c.173 others(27): Show c.173+1728_173+1737dupGCATTGAATC	AGR3	ENSG00000173467.9	transcript	ENST00000310398.7	protein_coding	3/7			chr7	TogoVar
AGR3_chr7_16854412_16886983	16880470	C C	CTCCCCTC others(3): Show CTCCCCTCCTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(251): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02145.hp1 HG02165.hp1 HG02258.hp1 HG02273.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp1 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp2 NA18952.hp2 NA18953.hp2 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18987.hp1 NA18988.hp2 NA18990.hp1 NA18992.hp1 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp2 NA19075.hp1 NA19077.hp2 NA19078.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0005 a0001c0001 a0001c0002 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0004c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(165): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0056 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0141 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0164 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0212 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0001g0260 a0001c0001t0002g0005 a0001c0001t0002g0009 a0001c0001t0002g0028 a0001c0001t0002g0035 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0057 a0001c0001t0002g0060 a0001c0001t0002g0064 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0075 a0001c0001t0002g0085 a0001c0001t0002g0088 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0106 a0001c0001t0002g0113 a0001c0001t0002g0120 a0001c0001t0002g0137 a0001c0001t0002g0149 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0229 a0001c0001t0002g0233 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0257 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0003g0128 a0001c0001t0003g0130 a0001c0001t0003g0181 a0001c0001t0005g0316 a0001c0002t0001g0059 a0001c0002t0001g0109 a0001c0002t0001g0147 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0168 a0001c0002t0001g0170 a0001c0002t0001g0172 a0001c0002t0002g0032 a0001c0002t0002g0034 a0001c0002t0002g0167 a0001c0002t0002g0169 a0001c0002t0002g0171 a0001c0002t0002g0173 a0001c0002t0002g0254 a0001c0002t0002g0261 a0001c0002t0003g0255 a0001c0002t0003g0256 a0001c0002t0003g0313 a0004c0005t0001g0086	254	458	0.5546	10	c.-28 others(27): Show c.-28+1464_-28+1473dupAAGGAGGGGA	AGR3	ENSG00000173467.9	transcript	ENST00000310398.7	protein_coding	1/7			chr7	TogoVar
AGTPBP1_chr9_85541539_85746954	85566529	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02257.hp1 HG03098.hp2 HG01243.hp1 HG02257.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0130 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0130	3	302	0.0099	10	c.350 others(29): Show c.3503+8776_3503+8785dupTTTTTTTTTT	AGTPBP1	ENSG00000135049.16	transcript	ENST00000357081.8	protein_coding	25/25			chr9	TogoVar
AGTPBP1_chr9_85541539_85746954	85572004	G G	GTTTTTTT others(3): Show GTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA19062.hp2 HG02630.hp1 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0103 a0001c0001t0002g0164 a0001c0001t0001g0103 a0001c0001t0002g0164	2	302	0.0066	10	c.350 others(29): Show c.3503+3301_3503+3310dupAAAAAAAAAA	AGTPBP1	ENSG00000135049.16	transcript	ENST00000357081.8	protein_coding	25/25			chr9	TogoVar
AGTPBP1_chr9_85541539_85746954	85599110	A A	AACACACA others(3): Show AACACACACAC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00673.hp2 others(18): Show HG00323.hp2 HG00408.hp2 HG00673.hp2 HG01346.hp2 HG01358.hp2 HG01934.hp1 HG02074.hp2 HG02602.hp1 HG03209.hp1 HG03540.hp2 HG04204.hp2 NA18612.hp1 NA18968.hp1 NA18979.hp1 NA18985.hp2 NA18989.hp1 NA18989.hp2 NA18992.hp2 NA18995.hp1 NA19012.hp2 NA19080.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0001c0013 a0009c0008 a0001c0001 a0001c0013 a0009c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0013t0013 a0009c0008t0001	a0001c0001t0001g0006 a0001c0001t0001g0035 a0001c0001t0001g0037 others(18): Show a0001c0001t0001g0006 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0061 a0001c0001t0001g0071 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0093 a0001c0001t0002g0161 a0001c0001t0002g0231 a0001c0001t0002g0234 a0001c0001t0002g0241 a0001c0001t0002g0272 a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0010g0064 a0001c0013t0013g0295 a0009c0008t0001g0136	21	302	0.0695	10	c.233 others(29): Show c.2336-2671_2336-2662dupGTGTGTGTGT	AGTPBP1	ENSG00000135049.16	transcript	ENST00000357081.8	protein_coding	17/25			chr9	TogoVar
AGTPBP1_chr9_85541539_85746954	85639367	G G	GCGCACAC others(3): Show GCGCACACACA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02004.hp1 HG04204.hp2 others(1): Show HG01192.hp2 HG02004.hp1 HG04204.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0093 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0093 a0001c0001t0002g0227	4	302	0.0133	10	c.130 others(29): Show c.1302+3459_1302+3460insTGTGTGTGCG	AGTPBP1	ENSG00000135049.16	transcript	ENST00000357081.8	protein_coding	13/25			chr9	TogoVar
AGTPBP1_chr9_85541539_85746954	85668967	A A	ATATGTGT others(3): Show ATATGTGTGTG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03579.hp2 NA19043.hp2 HG03098.hp1 HG03579.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0168 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0168	3	302	0.0099	10	c.662 others(25): Show c.662+517_662+518insCACACACATA	AGTPBP1	ENSG00000135049.16	transcript	ENST00000357081.8	protein_coding	8/25			chr9	TogoVar
AGTPBP1_chr9_85541539_85746954	85689921	A A	AATATATA others(3): Show AATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	302	0.0033	10	c.157 others(27): Show c.157+2767_157+2768insATATATATAT	AGTPBP1	ENSG00000135049.16	transcript	ENST00000357081.8	protein_coding	3/25			chr9	TogoVar
AGTPBP1_chr9_85541539_85746954	85689923	A A	AATATATA others(3): Show AATATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0259 a0001c0001t0002g0259	1	302	0.0033	10	c.157 others(27): Show c.157+2765_157+2766insATATATATAT	AGTPBP1	ENSG00000135049.16	transcript	ENST00000357081.8	protein_coding	3/25			chr9	TogoVar
AGTPBP1_chr9_85541539_85746954	85689925	A A	AAAAAAAA others(3): Show AAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03486.hp1 NA19240.hp1 HG02280.hp1 HG03486.hp1 NA19240.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0008c0010 a0001c0001 a0001c0002 a0008c0010	a0001c0001t0001 a0001c0002t0003 a0008c0010t0001 a0001c0001t0001 a0001c0002t0003 a0008c0010t0001	a0001c0001t0001g0091 a0001c0002t0003g0291 a0008c0010t0001g0090 a0001c0001t0001g0091 a0001c0002t0003g0291 a0008c0010t0001g0090	3	302	0.0099	10	c.157 others(27): Show c.157+2763_157+2764insATATTTTTTT	AGTPBP1	ENSG00000135049.16	transcript	ENST00000357081.8	protein_coding	3/25			chr9	TogoVar
AGTPBP1_chr9_85541539_85746954	85689925	A A	AAAAAATA others(3): Show AAAAAATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03098.hp2 HG03041.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0088 a0001c0001t0001g0089	2	302	0.0066	10	c.157 others(27): Show c.157+2763_157+2764insATATATTTTT	AGTPBP1	ENSG00000135049.16	transcript	ENST00000357081.8	protein_coding	3/25			chr9	TogoVar
AGTPBP1_chr9_85541539_85746954	85691536	G G	GGGGTGTG others(3): Show GGGGTGTGTGT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	302	0.0033	10	c.157 others(27): Show c.157+1152_157+1153insACACACACCC	AGTPBP1	ENSG00000135049.16	transcript	ENST00000357081.8	protein_coding	3/25			chr9	TogoVar
AGTPBP1_chr9_85541539_85746954	85691536	G G	GGTGTGTG others(3): Show GGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG03098.hp2 HG01069.hp2 HG03098.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0014 a0001c0001 a0003c0014	a0001c0001t0001 a0003c0014t0006 a0001c0001t0001 a0003c0014t0006	a0001c0001t0001g0088 a0003c0014t0006g0299 a0001c0001t0001g0088 a0003c0014t0006g0299	2	302	0.0066	10	c.157 others(27): Show c.157+1143_157+1152dupACACACACAC	AGTPBP1	ENSG00000135049.16	transcript	ENST00000357081.8	protein_coding	3/25			chr9	TogoVar
AGTPBP1_chr9_85541539_85746954	85728030	T T	TATATACA others(3): Show TATATACACAC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02647.hp1 HG02630.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0164 a0001c0001t0002g0165	2	302	0.0066	10	c.-34 others(29): Show c.-34+13744_-34+13745insGTGTGTATAT	AGTPBP1	ENSG00000135049.16	transcript	ENST00000357081.8	protein_coding	1/25			chr9	TogoVar
AGTPBP1_chr9_85541539_85746954	85734429	A A	ACTGTAAC others(3): Show ACTGTAACATC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01069.hp2 HG01261.hp1 others(1): Show HG00741.hp1 HG01069.hp2 HG01261.hp1 HG01433.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0014 a0001c0001 a0003c0014	a0001c0001t0003 a0001c0001t0006 a0003c0014t0006 a0001c0001t0003 a0001c0001t0006 a0003c0014t0006	a0001c0001t0003g0296 a0001c0001t0003g0297 a0001c0001t0006g0298 others(1): Show a0001c0001t0003g0296 a0001c0001t0003g0297 a0001c0001t0006g0298 a0003c0014t0006g0299	4	302	0.0133	10	c.-34 others(27): Show c.-34+7345_-34+7346insGATGTTACAG	AGTPBP1	ENSG00000135049.16	transcript	ENST00000357081.8	protein_coding	1/25			chr9	TogoVar
AGT_chr1_230697523_230719122	230701148	T T	TTGTGTGT others(3): Show TTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	456	0.0022	10	c.19 others(21): Show c.1983_*1992dupCACACACACA	AGT	ENSG00000135744.9	transcript	ENST00000366667.6	protein_coding		1374		chr1	TogoVar
AGXT2_chr5_34993102_35052949	35028558	T T	TGAGAGAG others(3): Show TGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18953.hp2 NA18969.hp1 others(2): Show NA18944.hp1 NA18953.hp2 NA18969.hp1 NA18985.hp1 NA19081.hp2	a0002 a0009 a0002 a0009	a0002c0002 a0009c0014 a0002c0002 a0009c0014	a0002c0002t0001 a0009c0014t0002 a0002c0002t0001 a0009c0014t0002	a0002c0002t0001g0020 a0002c0002t0001g0054 a0002c0002t0001g0060 others(2): Show a0002c0002t0001g0020 a0002c0002t0001g0054 a0002c0002t0001g0060 a0002c0002t0001g0120 a0009c0014t0002g0034	5	384	0.0130	10	c.770 others(27): Show c.770-2058_770-2049dupTCTCTCTCTC	AGXT2	ENSG00000113492.14	transcript	ENST00000231420.11	protein_coding	7/13			chr5	TogoVar
AGXT2_chr5_34993102_35052949	35041223	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00733.hp1 HG01358.hp2 others(19): Show HG00673.hp1 HG00733.hp1 HG01358.hp2 HG01934.hp1 HG02055.hp1 HG02080.hp2 HG02135.hp2 HG02738.hp1 HG03453.hp2 HG03471.hp2 NA18947.hp1 NA18948.hp2 NA18949.hp2 NA18961.hp2 NA18964.hp2 NA18985.hp2 NA18998.hp2 NA19000.hp1 NA19030.hp2 NA19057.hp1 NA19068.hp1 NA19084.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0006 a0007 a0009 a0010 a0014	a0001c0003 a0001c0034 a0002c0002 others(6): Show a0001c0003 a0001c0034 a0002c0002 a0003c0012 a0006c0007 a0007c0009 a0009c0014 a0010c0024 a0014c0016	a0001c0003t0003 a0001c0034t0003 a0002c0002t0001 others(7): Show a0001c0003t0003 a0001c0034t0003 a0002c0002t0001 a0003c0012t0002 a0006c0007t0001 a0006c0007t0005 a0007c0009t0002 a0009c0014t0002 a0010c0024t0003 a0014c0016t0005	a0001c0003t0003g0094 a0001c0034t0003g0102 a0002c0002t0001g0013 others(19): Show a0001c0003t0003g0094 a0001c0034t0003g0102 a0002c0002t0001g0013 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0096 a0002c0002t0001g0103 a0003c0012t0002g0105 a0003c0012t0002g0106 a0006c0007t0001g0022 a0006c0007t0001g0098 a0006c0007t0001g0113 a0006c0007t0005g0118 a0006c0007t0005g0119 a0007c0009t0002g0095 a0007c0009t0002g0099 a0007c0009t0002g0100 a0007c0009t0002g0101 a0007c0009t0002g0176 a0009c0014t0002g0097 a0010c0024t0003g0023 a0014c0016t0005g0250	22	384	0.0573	10	c.89- others(23): Show c.89-570_89-561dupTTTTTTTTTT	AGXT2	ENSG00000113492.14	transcript	ENST00000231420.11	protein_coding	1/13			chr5	TogoVar
AGXT2_chr5_34993102_35052949	35041223	C C	CGAAAAAA others(3): Show CGAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00642.hp2 HG00738.hp1 others(29): Show HG00597.hp2 HG00642.hp2 HG00738.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01123.hp2 HG01168.hp2 HG01257.hp1 HG01261.hp2 HG02056.hp1 HG02132.hp2 HG02622.hp2 HG02886.hp1 HG02886.hp2 HG03654.hp2 HG03688.hp1 HG06807.hp1 NA18955.hp2 NA18965.hp2 NA18981.hp2 NA18984.hp2 NA18990.hp1 NA19000.hp2 NA19001.hp1 NA19009.hp1 NA19011.hp2 NA19012.hp2 NA19084.hp1 NA19087.hp2 NA19090.hp1 NA20805.hp1	a0001 a0003 a0007 others(1): Show a0001 a0003 a0007 a0016	a0001c0001 a0003c0006 a0007c0018 others(1): Show a0001c0001 a0003c0006 a0007c0018 a0016c0019	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0003c0006t0002 a0003c0006t0006 a0007c0018t0002 a0016c0019t0001 a0016c0019t0004	a0001c0001t0001g0189 a0001c0001t0001g0197 a0001c0001t0001g0198 others(29): Show a0001c0001t0001g0189 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0220 a0001c0001t0001g0227 a0001c0001t0001g0252 a0001c0001t0001g0260 a0001c0001t0003g0121 a0001c0001t0003g0203 a0001c0001t0003g0205 a0001c0001t0003g0209 a0001c0001t0003g0362 a0001c0001t0004g0207 a0001c0001t0004g0366 a0003c0006t0002g0179 a0003c0006t0002g0196 a0003c0006t0006g0370 a0003c0006t0006g0371 a0007c0018t0002g0194 a0016c0019t0001g0195 a0016c0019t0004g0188	32	384	0.0833	10	c.89- others(23): Show c.89-561_89-560insTTTTTTTTTC	AGXT2	ENSG00000113492.14	transcript	ENST00000231420.11	protein_coding	1/13			chr5	TogoVar
AGXT2_chr5_34993102_35052949	35041223	C C	CGAAAAAA others(3): Show CGAAAAAAAGA	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	384	0.0026	10	c.89- others(23): Show c.89-561_89-560insTCTTTTTTTC	AGXT2	ENSG00000113492.14	transcript	ENST00000231420.11	protein_coding	1/13			chr5	TogoVar
AGXT2_chr5_34993102_35052949	35042736	C C	CTGTGTGT others(3): Show CTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03139.hp1 HG02965.hp1 HG03139.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0007 a0001c0001 a0006c0007	a0001c0001t0004 a0006c0007t0001 a0001c0001t0004 a0006c0007t0001	a0001c0001t0004g0356 a0006c0007t0001g0239 a0001c0001t0004g0356 a0006c0007t0001g0239	2	384	0.0052	10	c.89- others(25): Show c.89-2083_89-2074dupCACACACACA	AGXT2	ENSG00000113492.14	transcript	ENST00000231420.11	protein_coding	1/13			chr5	TogoVar
AGXT_chr2_240863824_240885500	240880574	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG02004.hp1 HG02040.hp1 others(8): Show HG01496.hp2 HG02004.hp1 HG02040.hp1 HG02135.hp2 HG02735.hp1 HG03492.hp1 NA18959.hp1 NA19030.hp1 NA19057.hp1 NA19081.hp1 NA19086.hp2	a0001 a0014 a0001 a0014	a0001c0001 a0001c0002 a0014c0026 a0001c0001 a0001c0002 a0014c0026	a0001c0001t0002 a0001c0002t0022 a0014c0026t0002 a0001c0001t0002 a0001c0002t0022 a0014c0026t0002	a0001c0001t0002g0002 a0001c0001t0002g0022 a0001c0001t0002g0038 others(4): Show a0001c0001t0002g0002 a0001c0001t0002g0022 a0001c0001t0002g0038 a0001c0001t0002g0059 a0001c0001t0002g0071 a0001c0002t0022g0010 a0014c0026t0002g0073	11	444	0.0248	10	c.17 others(21): Show c.1753_*1754insTTTTTTTTTT	AGXT	ENSG00000172482.5	transcript	ENST00000307503.4	protein_coding		75		chr2	TogoVar
AGXT_chr2_240863824_240885500	240883694	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0053 a0001c0001t0008g0053	1	444	0.0023	10	c.48 others(21): Show c.4873_*4874insTTTTTTTTTT	AGXT	ENSG00000172482.5	transcript	ENST00000307503.4	protein_coding		3195		chr2	TogoVar
AHCTF1_chr1_246834098_246936948	246834474	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG01243.hp1 HG01884.hp1 others(13): Show HG00735.hp2 HG01243.hp1 HG01884.hp1 HG02300.hp1 HG02622.hp1 HG02698.hp2 HG02723.hp1 HG02818.hp1 HG02896.hp2 HG02922.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG04115.hp2 HG04228.hp2 NA20129.hp2	a0001 a0009 a0017 others(1): Show a0001 a0009 a0017 a0020	a0001c0001 a0001c0004 a0001c0007 others(4): Show a0001c0001 a0001c0004 a0001c0007 a0009c0034 a0009c0035 a0017c0040 a0020c0036	a0001c0001t0002 a0001c0001t0014 a0001c0004t0002 others(7): Show a0001c0001t0002 a0001c0001t0014 a0001c0004t0002 a0001c0004t0012 a0001c0004t0015 a0001c0007t0001 a0009c0034t0002 a0009c0035t0002 a0017c0040t0002 a0020c0036t0002	a0001c0001t0002g0034 a0001c0001t0014g0003 a0001c0004t0002g0021 others(13): Show a0001c0001t0002g0034 a0001c0001t0014g0003 a0001c0004t0002g0021 a0001c0004t0002g0022 a0001c0004t0002g0023 a0001c0004t0002g0158 a0001c0004t0002g0290 a0001c0004t0002g0327 a0001c0004t0002g0356 a0001c0004t0012g0355 a0001c0004t0015g0010 a0001c0007t0001g0277 a0009c0034t0002g0164 a0009c0035t0002g0165 a0017c0040t0002g0358 a0020c0036t0002g0166	16	376	0.0426	10	c.63 others(21): Show c.6331_*6332insAAAAAAAAAA	AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding		4623		chr1	TogoVar
AHCTF1_chr1_246834098_246936948	246867901	C C	CCCCACAC others(3): Show CCCCACACACA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0011 a0011	a0011c0016 a0011c0016	a0011c0016t0001 a0011c0016t0001	a0011c0016t0001g0274 a0011c0016t0001g0274	1	376	0.0027	10	c.308 others(25): Show c.3089-91_3089-90insTGTGTGTGGG	AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding	24/35			chr1	TogoVar
AHCTF1_chr1_246834098_246936948	246867901	C C	CCCCCCAC others(3): Show CCCCCCACACA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0011 a0011	a0011c0016 a0011c0016	a0011c0016t0001 a0011c0016t0001	a0011c0016t0001g0275 a0011c0016t0001g0275	1	376	0.0027	10	c.308 others(25): Show c.3089-91_3089-90insTGTGTGGGGG	AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding	24/35			chr1	TogoVar
AHCTF1_chr1_246834098_246936948	246898621	A A	AACACACA others(3): Show AACACACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02109.hp1 HG03471.hp1 HG01884.hp2 HG02109.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0363 a0001c0001t0004g0365 a0001c0001t0004g0366 a0001c0001t0004g0363 a0001c0001t0004g0365 a0001c0001t0004g0366	3	376	0.0080	10	c.149 others(27): Show c.1495-295_1495-286dupGTGTGTGTGT	AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding	11/35			chr1	TogoVar
AHCTF1_chr1_246834098_246936948	246924517	A A	ACATATTT others(3): Show ACATATTTATG	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18962.hp2 NA18950.hp2 NA18962.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0186 a0001c0010t0001g0187 a0001c0010t0001g0186 a0001c0010t0001g0187	2	376	0.0053	10	c.-7- others(25): Show c.-7-6150_-7-6141dupCATAAATATG	AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding	1/35			chr1	TogoVar
AHCYL1_chr1_109979765_110028742	110026029	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02258.hp1 HG02647.hp2 others(4): Show HG02145.hp1 HG02258.hp1 HG02647.hp2 HG03225.hp2 HG03516.hp1 NA18906.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0019 a0001c0001t0001 a0001c0001t0004 a0001c0001t0019	a0001c0001t0001g0200 a0001c0001t0004g0013 a0001c0001t0004g0031 others(2): Show a0001c0001t0001g0200 a0001c0001t0004g0013 a0001c0001t0004g0031 a0001c0001t0004g0186 a0001c0001t0019g0013	7	350	0.0200	10	c.43 others(21): Show c.4349_*4350insTTTTTTTTTT	AHCYL1	ENSG00000168710.18	transcript	ENST00000369799.10	protein_coding		2288		chr1	TogoVar
AHCYL1_chr1_109979765_110028742	110027275	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0031 a0001c0001t0004g0031	1	350	0.0029	10	c.55 others(21): Show c.5595_*5596insAAAAAAAAAA	AHCYL1	ENSG00000168710.18	transcript	ENST00000369799.10	protein_coding		3534		chr1	TogoVar
AHCYL2_chr7_129220030_129435211	129267230	G G	GGTGTGTG others(3): Show GGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01243.hp2 HG00558.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0130 a0001c0001t0001g0101 a0001c0001t0001g0130	2	292	0.0069	10	c.363 others(29): Show c.363+41822_363+41831dupGTGTGTGTGT	AHCYL2	ENSG00000158467.17	transcript	ENST00000325006.8	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
AHCYL2_chr7_129220030_129435211	129267235	G G	GTGTGTGT others(3): Show GTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00597.hp1 HG00673.hp2 others(79): Show HG00140.hp1 HG00597.hp1 HG00673.hp2 HG00733.hp2 HG00741.hp2 HG01074.hp1 HG01081.hp2 HG01109.hp2 HG01167.hp1 HG01258.hp2 HG01346.hp1 HG01361.hp1 HG01515.hp1 HG01952.hp1 HG01981.hp1 HG01993.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02135.hp2 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02523.hp2 HG02602.hp2 HG02738.hp1 HG03239.hp1 HG03491.hp2 HG03516.hp1 HG03688.hp1 HG03704.hp1 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG04115.hp2 HG04184.hp2 HG06807.hp1 NA18747.hp2 NA18906.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18946.hp1 NA18948.hp1 NA18950.hp1 NA18952.hp1 NA18955.hp2 NA18962.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18972.hp2 NA18974.hp1 NA18979.hp2 NA18980.hp2 NA18987.hp1 NA18989.hp1 NA18994.hp2 NA18995.hp2 NA19002.hp1 NA19010.hp2 NA19012.hp2 NA19054.hp1 NA19054.hp2 NA19060.hp2 NA19062.hp1 NA19063.hp2 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19077.hp1 NA19079.hp1 NA19091.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0019 a0001c0001t0020 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003	a0001c0001t0001g0013 a0001c0001t0001g0029 a0001c0001t0001g0030 others(79): Show a0001c0001t0001g0013 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0036 a0001c0001t0001g0044 a0001c0001t0001g0292 a0001c0001t0002g0008 a0001c0001t0002g0058 a0001c0001t0002g0153 a0001c0001t0002g0167 a0001c0001t0002g0278 a0001c0001t0003g0135 a0001c0001t0003g0142 a0001c0001t0003g0143 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0154 a0001c0001t0003g0157 a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0162 a0001c0001t0003g0164 a0001c0001t0003g0182 a0001c0001t0003g0187 a0001c0001t0004g0007 a0001c0001t0004g0136 a0001c0001t0004g0137 a0001c0001t0004g0141 a0001c0001t0004g0144 a0001c0001t0004g0158 a0001c0001t0004g0165 a0001c0001t0004g0166 a0001c0001t0008g0150 a0001c0001t0008g0163 a0001c0001t0019g0155 a0001c0001t0020g0161 a0001c0002t0001g0263 a0001c0002t0002g0001 a0001c0002t0002g0215 a0001c0002t0002g0248 a0001c0002t0003g0189 a0001c0002t0003g0193 a0001c0002t0003g0194 a0001c0002t0003g0195 a0001c0002t0003g0205 a0001c0002t0003g0206 a0001c0002t0003g0207 a0001c0002t0003g0209 a0001c0002t0003g0213 a0001c0002t0003g0214 a0001c0002t0003g0220 a0001c0002t0003g0221 a0001c0002t0003g0222 a0001c0002t0003g0223 a0001c0002t0003g0224 a0001c0002t0003g0226 a0001c0002t0003g0227 a0001c0002t0003g0228 a0001c0002t0003g0229 a0001c0002t0003g0230 a0001c0002t0003g0233 a0001c0002t0003g0234 a0001c0002t0003g0235 a0001c0002t0003g0237 a0001c0002t0003g0238 a0001c0002t0003g0239 a0001c0002t0003g0240 a0001c0002t0003g0241 a0001c0002t0003g0242 a0001c0002t0003g0243 a0001c0002t0003g0244 a0001c0002t0003g0245 a0001c0002t0003g0246 a0001c0002t0003g0247 a0001c0002t0003g0256 a0001c0002t0003g0257 a0001c0002t0003g0258 a0001c0002t0003g0261 a0001c0002t0003g0264 a0001c0002t0003g0266 a0001c0002t0003g0271 a0001c0002t0003g0272	82	292	0.2808	10	c.363 others(29): Show c.363+41805_363+41806insATGTGTGTGT	AHCYL2	ENSG00000158467.17	transcript	ENST00000325006.8	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
AHCYL2_chr7_129220030_129435211	129280178	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01496.hp1 HG02559.hp2 others(5): Show HG01099.hp1 HG01496.hp1 HG02559.hp2 HG02615.hp2 HG03195.hp1 HG03834.hp2 NA18950.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0009	a0001c0001t0001g0035 a0001c0001t0001g0052 a0001c0001t0002g0031 others(5): Show a0001c0001t0001g0035 a0001c0001t0001g0052 a0001c0001t0002g0031 a0001c0001t0007g0285 a0001c0001t0007g0286 a0001c0001t0007g0287 a0001c0001t0007g0288 a0001c0001t0009g0099	8	292	0.0274	10	c.363 others(29): Show c.363+54741_363+54750dupTTTTTTTTTT	AHCYL2	ENSG00000158467.17	transcript	ENST00000325006.8	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
AHCYL2_chr7_129220030_129435211	129299369	G G	GTTTTTTT others(3): Show GTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0245 a0001c0002t0003g0245	1	292	0.0034	10	c.363 others(29): Show c.363+73963_363+73972dupTTTTTTTTTT	AHCYL2	ENSG00000158467.17	transcript	ENST00000325006.8	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
AHCYL2_chr7_129220030_129435211	129365628	G G	GTATATAT others(3): Show GTATATATATA	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	292	0.0034	10	c.364 others(29): Show c.364-14002_364-13993dupATATATATAT	AHCYL2	ENSG00000158467.17	transcript	ENST00000325006.8	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
AHCY_chr20_34275268_34308355	34304338	T T	TGGACTCA others(3): Show TGGACTCAACC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0021	1	300	0.0033	10	c.-10 others(21): Show c.-1069_-1068insGGTTGAGTCC	AHCY	ENSG00000101444.13	transcript	ENST00000217426.7	protein_coding		984		chr20	TogoVar
AHDC1_chr1_27529245_27609144	27531094	A A	AAAAAAAA others(3): Show AAAAAAAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0006 a0003c0004t0006	a0003c0004t0006g0014 a0003c0004t0006g0014	1	180	0.0056	10	c.38 others(21): Show c.3865_*3866insCTTTTTTTTT	AHDC1	ENSG00000126705.15	transcript	ENST00000673934.1	protein_coding		3150		chr1	TogoVar
AHDC1_chr1_27529245_27609144	27538400	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03130.hp2 HG01884.hp2 HG03130.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0006 a0003c0004t0002 a0003c0004t0006	a0003c0004t0002g0074 a0003c0004t0006g0014 a0003c0004t0002g0074 a0003c0004t0006g0014	2	180	0.0111	10	c.44 others(27): Show c.44-3494_*44-3485dupTTTTTTTTTT	AHDC1	ENSG00000126705.15	transcript	ENST00000673934.1	protein_coding	8/8			chr1	TogoVar
AHDC1_chr1_27529245_27609144	27595450	C C	CTGTGTGT others(3): Show CTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG02109.hp1 others(12): Show HG01884.hp2 HG01891.hp1 HG02109.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02886.hp1 HG03041.hp2 HG03130.hp2 HG03209.hp1 HG03486.hp1 HG03516.hp1 HG03579.hp2 NA18522.hp2 NA18906.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0009 a0010	a0001c0001 a0001c0007 a0002c0003 others(5): Show a0001c0001 a0001c0007 a0002c0003 a0003c0004 a0003c0009 a0004c0010 a0009c0017 a0010c0020	a0001c0001t0001 a0001c0007t0007 a0002c0003t0002 others(7): Show a0001c0001t0001 a0001c0007t0007 a0002c0003t0002 a0003c0004t0002 a0003c0004t0006 a0003c0009t0002 a0003c0009t0006 a0004c0010t0001 a0009c0017t0007 a0010c0020t0007	a0001c0001t0001g0015 a0001c0001t0001g0086 a0001c0001t0001g0091 others(12): Show a0001c0001t0001g0015 a0001c0001t0001g0086 a0001c0001t0001g0091 a0001c0001t0001g0155 a0001c0001t0001g0162 a0001c0007t0007g0099 a0002c0003t0002g0104 a0003c0004t0002g0074 a0003c0004t0006g0014 a0003c0004t0006g0075 a0003c0009t0002g0065 a0003c0009t0006g0145 a0004c0010t0001g0010 a0009c0017t0007g0100 a0010c0020t0007g0103	15	180	0.0833	10	c.-62 others(29): Show c.-629+7937_-629+7946dupCACACACACA	AHDC1	ENSG00000126705.15	transcript	ENST00000673934.1	protein_coding	3/8			chr1	TogoVar
AHDC1_chr1_27529245_27609144	27608841	C C	CGTGTGTG others(3): Show CGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG01978.hp1 HG02615.hp2 others(5): Show HG01515.hp1 HG01978.hp1 HG02615.hp2 HG02622.hp2 HG02809.hp2 HG03579.hp1 HG03834.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0013 a0001c0001 a0001c0008 a0001c0013	a0001c0001t0001 a0001c0001t0003 a0001c0008t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0008t0001 a0001c0013t0014	a0001c0001t0001g0029 a0001c0001t0001g0079 a0001c0001t0001g0082 others(5): Show a0001c0001t0001g0029 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0003g0073 a0001c0008t0001g0108 a0001c0013t0014g0059	8	180	0.0444	10	c.-55 others(21): Show c.-5599_-5598insACACACACAC	AHDC1	ENSG00000126705.15	transcript	ENST00000673934.1	protein_coding		4698		chr1	TogoVar
AHI1_chr6_135278532_135502740	135290913	A A	AACACACA others(3): Show AACACACACAC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01099.hp2 HG01496.hp2 others(13): Show HG01074.hp2 HG01099.hp2 HG01496.hp2 HG01928.hp2 HG02257.hp1 HG02280.hp2 HG02559.hp2 HG02630.hp1 HG02647.hp1 HG02886.hp1 HG02922.hp1 HG02976.hp1 HG03209.hp2 HG03453.hp2 NA18522.hp1 NA18906.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0002 a0001c0001t0003 a0004c0007t0011 a0001c0001t0002 a0001c0001t0003 a0004c0007t0011	a0001c0001t0002g0041 a0001c0001t0002g0171 a0001c0001t0002g0172 others(13): Show a0001c0001t0002g0041 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0208 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0045 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0178 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0216 a0004c0007t0011g0072 a0004c0007t0011g0102	16	220	0.0727	10	c.348 others(27): Show c.3486-398_3486-389dupGTGTGTGTGT	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	27/28			chr6	TogoVar
AHI1_chr6_135278532_135502740	135290941	C C	CACACACA others(3): Show CACACACACAA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0014 a0001c0010t0014	a0001c0010t0014g0020 a0001c0010t0014g0020	1	220	0.0046	10	c.348 others(27): Show c.3486-417_3486-416insTTGTGTGTGT	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	27/28			chr6	TogoVar
AHI1_chr6_135278532_135502740	135292109	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0109 a0001c0001t0002g0109	1	220	0.0046	10	c.348 others(29): Show c.3486-1594_3486-1585dupGTGTGTGTGT	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	27/28			chr6	TogoVar
AHI1_chr6_135278532_135502740	135294324	T T	TCAAAACA others(3): Show TCAAAACAAAA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0014 a0001c0010t0014	a0001c0010t0014g0020 a0001c0010t0014g0020	1	220	0.0046	10	c.348 others(29): Show c.3486-3809_3486-3800dupTTTTGTTTTG	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	27/28			chr6	TogoVar

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