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 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
AUTS2_chr7_69593475_70798506	69806073	AACTTTTG others(6): Show AACTTTTGATAGAG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02257.hp2 NA19030.hp2 others(1): Show HG01243.hp2 HG02257.hp2 NA19030.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0007 a0001c0001 a0001c0004 a0001c0007	a0001c0001t0006 a0001c0004t0012 a0001c0004t0013 others(1): Show a0001c0001t0006 a0001c0004t0012 a0001c0004t0013 a0001c0007t0006	a0001c0001t0006g0010 a0001c0004t0012g0024 a0001c0004t0013g0025 others(1): Show a0001c0001t0006g0010 a0001c0004t0012g0024 a0001c0004t0013g0025 a0001c0007t0006g0027	4	76	0.0526	-13	c.310 others(32): Show c.310-93210_310-93198delTTTTGATAGAGAC	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69850398	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0003 a0001c0001t0018g0003	1	76	0.0132	-13	c.310 others(32): Show c.310-48863_310-48851delAAAAAAAAAAAAA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69876344	AAAAAAAT others(6): Show AAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0003 a0003c0006t0003	a0003c0006t0003g0034 a0003c0006t0003g0034	1	76	0.0132	-13	c.310 others(32): Show c.310-22940_310-22928delAAAAATATATATA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69876346	AAAAATAT others(6): Show AAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	76	0.0132	-13	c.310 others(32): Show c.310-22938_310-22926delAAATATATATATA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69891774	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0006 a0001c0001t0009g0006	1	76	0.0132	-13	c.310 others(30): Show c.310-7487_310-7475delTTTTTTTTTTTTT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69921327	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03225.hp2 HG02258.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0019 a0001c0001t0001 a0001c0001t0019	a0001c0001t0001g0074 a0001c0001t0019g0075 a0001c0001t0001g0074 a0001c0001t0019g0075	2	76	0.0263	-13	c.522 others(32): Show c.522+21842_522+21854delTTTTTTTTTTTTT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70076234	AAAAGCAT others(6): Show AAAAGCATCGCATT	A A	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0003 a0001c0001t0018g0003	1	76	0.0132	-13	c.523 others(32): Show c.523-41894_523-41882delGCATCGCATTAAA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70156891	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02615.hp1 HG03041.hp2 HG00280.hp1 HG02615.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0014 a0001c0001t0001 a0001c0001t0003 a0001c0001t0014	a0001c0001t0001g0026 a0001c0001t0003g0068 a0001c0001t0014g0070 a0001c0001t0001g0026 a0001c0001t0003g0068 a0001c0001t0014g0070	3	76	0.0395	-13	c.660 others(32): Show c.660+22344_660+22356delAAAAAAAAAAAAA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70162445	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0022 a0001c0001t0029g0022	1	76	0.0132	-13	c.660 others(32): Show c.660+27897_660+27909delAAAAAAAAAAAAA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70185257	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0039 a0001c0003t0008g0039	1	76	0.0132	-13	c.660 others(32): Show c.660+50701_660+50713delTTTTTTTTTTTTT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70595962	CTGCCTGC others(6): Show CTGCCTGCGCGCTT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0015 a0001c0001t0005g0015	1	76	0.0132	-13	c.691 others(34): Show c.691-102589_691-102577delTGCGCGCTTTGCC	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70712193	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01884.hp1 HG03041.hp1 HG00741.hp1 HG01884.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0006 a0001c0001t0007 a0001c0005t0030 a0001c0001t0006 a0001c0001t0007 a0001c0005t0030	a0001c0001t0006g0038 a0001c0001t0007g0040 a0001c0005t0030g0013 a0001c0001t0006g0038 a0001c0001t0007g0040 a0001c0005t0030g0013	3	76	0.0395	-13	c.742 others(32): Show c.742+13595_742+13607delTTTTTTTTTTTTT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVEN_chr15_33861227_34044204	33931349	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01257.hp1 HG02145.hp2 others(2): Show HG01169.hp2 HG01257.hp1 HG02145.hp2 NA18951.hp1 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 others(2): Show a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0199 a0001c0001t0002g0046	5	266	0.0188	-13	c.446 others(32): Show c.446-55367_446-55355delAAAAAAAAAAAAA	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVEN_chr15_33861227_34044204	33937932	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02572.hp2 HG02965.hp2 others(2): Show HG02258.hp2 HG02572.hp2 HG02965.hp2 HG03041.hp2 HG03225.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0005 a0001c0001 a0007c0005	a0001c0001t0001 a0007c0005t0007 a0001c0001t0001 a0007c0005t0007	a0001c0001t0001g0128 a0001c0001t0001g0134 a0001c0001t0001g0182 others(2): Show a0001c0001t0001g0128 a0001c0001t0001g0134 a0001c0001t0001g0182 a0007c0005t0007g0264 a0007c0005t0007g0265	5	266	0.0188	-13	c.446 others(32): Show c.446-61950_446-61938delTTTTTTTTTTTTT	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVEN_chr15_33861227_34044204	33958600	AAAAAAAG others(6): Show AAAAAAAGGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01884.hp2 others(3): Show HG01070.hp2 HG01071.hp1 HG01884.hp2 HG02280.hp2 HG02717.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0144 others(3): Show a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0144 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187	6	266	0.0226	-13	c.445 others(32): Show c.445+44419_445+44431delCTTTTCCTTTTTT	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVEN_chr15_33861227_34044204	33962919	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	266	0.0038	-13	c.445 others(32): Show c.445+40100_445+40112delTTTTTTTTTTTTT	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVEN_chr15_33861227_34044204	33982982	GACTGCAC others(6): Show GACTGCACCTCTTA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp2 HG00544.hp1 others(119): Show HG00140.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00741.hp2 HG01081.hp2 HG01255.hp1 HG01346.hp1 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG01943.hp1 HG01978.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02071.hp1 HG02071.hp2 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02145.hp2 HG02258.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG04115.hp2 HG04184.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18943.hp2 NA18945.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18957.hp2 NA18960.hp1 NA18964.hp1 NA18968.hp2 NA18969.hp1 NA18977.hp1 NA18979.hp1 NA18980.hp2 NA18981.hp2 NA18983.hp1 NA18986.hp1 NA18987.hp1 NA18988.hp2 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18998.hp2 NA19000.hp1 NA19007.hp2 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp2 NA19064.hp1 NA19068.hp1 NA19079.hp1 NA19079.hp2 NA19081.hp2 NA19082.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0001c0012 a0002c0002 others(3): Show a0001c0001 a0001c0012 a0002c0002 a0003c0003 a0004c0004 a0006c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0012t0001 a0002c0002t0001 a0003c0003t0003 a0004c0004t0001 a0006c0006t0002	a0001c0001t0001g0032 a0001c0001t0001g0085 a0001c0001t0001g0110 others(119): Show a0001c0001t0001g0032 a0001c0001t0001g0085 a0001c0001t0001g0110 a0001c0001t0001g0121 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0251 a0001c0001t0001g0254 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0002g0076 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0172 a0001c0001t0002g0180 a0001c0001t0002g0220 a0001c0001t0002g0224 a0001c0001t0002g0232 a0001c0001t0002g0244 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0256 a0001c0001t0004g0142 a0001c0001t0004g0150 a0001c0001t0004g0183 a0001c0001t0004g0184 a0001c0001t0004g0192 a0001c0001t0004g0205 a0001c0001t0004g0206 a0001c0001t0004g0207 a0001c0001t0005g0194 a0001c0001t0006g0197 a0001c0012t0001g0164 a0002c0002t0001g0051 a0002c0002t0001g0077 a0002c0002t0001g0083 a0002c0002t0001g0092 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0161 a0002c0002t0001g0163 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0171 a0002c0002t0001g0219 a0002c0002t0001g0239 a0002c0002t0001g0243 a0002c0002t0001g0245 a0002c0002t0001g0246 a0002c0002t0001g0257 a0003c0003t0003g0002 a0003c0003t0003g0003 a0004c0004t0001g0020 a0006c0006t0002g0234	122	266	0.4587	-13	c.445 others(32): Show c.445+20037_445+20049delTAAGAGGTGCAGT	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVEN_chr15_33861227_34044204	34008483	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(103): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp2 HG00609.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01891.hp2 HG01952.hp2 HG01978.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02109.hp2 HG02132.hp2 HG02257.hp2 HG02300.hp2 HG02602.hp1 HG02602.hp2 HG02698.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02965.hp2 HG03041.hp2 HG03130.hp2 HG03654.hp1 HG03688.hp1 HG03688.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18747.hp1 NA18939.hp2 NA18943.hp1 NA18945.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18957.hp1 NA18960.hp2 NA18964.hp2 NA18969.hp2 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18986.hp2 NA18988.hp1 NA18992.hp1 NA18993.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19007.hp1 NA19011.hp1 NA19056.hp1 NA19056.hp2 NA19068.hp1 NA19068.hp2 NA19079.hp1 NA19081.hp1 NA20300.hp1 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0006 a0010	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0005c0007 a0006c0006 a0010c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0002c0002t0001 a0003c0003t0001 a0003c0003t0003 a0005c0007t0003 a0006c0006t0002 a0010c0011t0001	a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 others(103): Show a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0111 a0001c0001t0001g0134 a0001c0001t0001g0182 a0001c0001t0001g0215 a0001c0001t0001g0229 a0001c0001t0002g0043 a0001c0001t0002g0046 a0001c0001t0002g0054 a0001c0001t0002g0056 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0078 a0001c0001t0002g0090 a0001c0001t0002g0093 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0227 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0255 a0001c0001t0006g0030 a0002c0002t0001g0051 a0002c0002t0001g0058 a0002c0002t0001g0062 a0002c0002t0001g0079 a0002c0002t0001g0081 a0002c0002t0001g0083 a0002c0002t0001g0086 a0002c0002t0001g0088 a0002c0002t0001g0094 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0233 a0002c0002t0001g0262 a0003c0003t0001g0263 a0003c0003t0003g0001 a0003c0003t0003g0002 a0003c0003t0003g0003 a0003c0003t0003g0004 a0003c0003t0003g0005 a0003c0003t0003g0007 a0003c0003t0003g0008 a0003c0003t0003g0011 a0003c0003t0003g0012 a0003c0003t0003g0013 a0003c0003t0003g0014 a0003c0003t0003g0015 a0005c0007t0003g0006 a0005c0007t0003g0009 a0005c0007t0003g0010 a0006c0006t0002g0061 a0006c0006t0002g0063 a0010c0011t0001g0044	106	266	0.3985	-13	c.268 others(30): Show c.268-5287_268-5275delAAAAAAAAAAAAA	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	1/5			chr15	TogoVar
AVPI1_chr10_97672424_97692241	97678916	TGTGTGTG others(6): Show TGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	446	0.0022	-13	c.287 others(28): Show c.287+690_287+702delCACACACACACAC	AVPI1	ENSG00000119986.7	transcript	ENST00000370626.4	protein_coding	2/2			chr10	TogoVar
AVPI1_chr10_97672424_97692241	97678920	TGTGTGTG others(6): Show TGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	446	0.0022	-13	c.287 others(28): Show c.287+686_287+698delCACACACACACAC	AVPI1	ENSG00000119986.7	transcript	ENST00000370626.4	protein_coding	2/2			chr10	TogoVar
AVPI1_chr10_97672424_97692241	97678922	TGTGTGTG others(6): Show TGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA18975.hp2 HG00558.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	2	446	0.0045	-13	c.287 others(28): Show c.287+684_287+696delCACACACACACAC	AVPI1	ENSG00000119986.7	transcript	ENST00000370626.4	protein_coding	2/2			chr10	TogoVar
AWAT2_chrX_70035542_70054938	70050424	ATACCTTC others(6): Show ATACCTTCAGCCTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02922.hp2 HG03041.hp2 others(2): Show HG02451.hp1 HG02922.hp2 HG03041.hp2 HG03486.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0011 a0001c0001t0009g0032 a0001c0001t0001g0011 a0001c0001t0009g0032	5	338	0.0148	-13	c.-50 others(22): Show c.-505_-493delAAGGCTGAAGGTA	AWAT2	ENSG00000147160.9	transcript	ENST00000276101.7	protein_coding		487		chrX	TogoVar
AXDND1_chr1_179360971_179559735	179421367	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03209.hp2 HG02809.hp2 HG03209.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0194 a0007c0009t0001g0196 a0007c0009t0001g0194 a0007c0009t0001g0196	2	356	0.0056	-13	c.123 others(32): Show c.1231-8134_1231-8122delTTTTTTTTTTTTT	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	12/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AXDND1_chr1_179360971_179559735	179426473	CATTTGCA others(6): Show CATTTGCATGTACT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02258.hp2 HG02572.hp2 others(8): Show HG01884.hp1 HG02258.hp2 HG02572.hp2 HG02615.hp1 HG02895.hp2 HG02965.hp1 HG02976.hp1 HG03130.hp2 HG03486.hp2 HG03579.hp2 NA19030.hp1	a0001 a0023 a0001 a0023	a0001c0007 a0023c0028 a0001c0007 a0023c0028	a0001c0007t0001 a0023c0028t0001 a0001c0007t0001 a0023c0028t0001	a0001c0007t0001g0080 a0001c0007t0001g0175 a0001c0007t0001g0183 others(8): Show a0001c0007t0001g0080 a0001c0007t0001g0175 a0001c0007t0001g0183 a0001c0007t0001g0187 a0001c0007t0001g0189 a0001c0007t0001g0190 a0001c0007t0001g0200 a0001c0007t0001g0201 a0001c0007t0001g0202 a0001c0007t0001g0203 a0023c0028t0001g0188	11	356	0.0309	-13	c.123 others(32): Show c.1231-3041_1231-3029delTGCATGTACTATT	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	12/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AXDND1_chr1_179360971_179559735	179487518	TAATTGCA others(6): Show TAATTGCAGGTTTA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(198): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00408.hp2 HG00423.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02698.hp1 HG02717.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03540.hp1 HG03579.hp2 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18943.hp2 NA18945.hp2 NA18947.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19030.hp1 NA19054.hp1 NA19054.hp2 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA20129.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0004 others(7): Show a0001 a0002 a0004 a0005 a0012 a0014 a0016 a0017 a0023 a0024	a0001c0002 a0001c0006 a0001c0007 others(15): Show a0001c0002 a0001c0006 a0001c0007 a0001c0011 a0001c0021 a0002c0001 a0002c0019 a0002c0020 a0002c0022 a0002c0023 a0004c0005 a0005c0008 a0012c0014 a0014c0025 a0016c0026 a0017c0027 a0023c0028 a0024c0024	a0001c0002t0001 a0001c0006t0001 a0001c0007t0001 others(15): Show a0001c0002t0001 a0001c0006t0001 a0001c0007t0001 a0001c0011t0001 a0001c0021t0001 a0002c0001t0001 a0002c0019t0001 a0002c0020t0001 a0002c0022t0001 a0002c0023t0001 a0004c0005t0001 a0005c0008t0001 a0012c0014t0001 a0014c0025t0001 a0016c0026t0001 a0017c0027t0001 a0023c0028t0001 a0024c0024t0001	a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 others(198): Show a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0104 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0118 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0138 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0206 a0001c0002t0001g0212 a0001c0002t0001g0227 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0248 a0001c0002t0001g0250 a0001c0002t0001g0291 a0001c0002t0001g0292 a0001c0002t0001g0316 a0001c0002t0001g0322 a0001c0002t0001g0323 a0001c0006t0001g0258 a0001c0007t0001g0080 a0001c0007t0001g0175 a0001c0007t0001g0183 a0001c0007t0001g0187 a0001c0007t0001g0189 a0001c0007t0001g0190 a0001c0007t0001g0200 a0001c0007t0001g0201 a0001c0007t0001g0202 a0001c0007t0001g0203 a0001c0011t0001g0085 a0001c0011t0001g0086 a0001c0011t0001g0087 a0001c0011t0001g0119 a0001c0011t0001g0157 a0001c0021t0001g0130 a0001c0021t0001g0131 a0002c0001t0001g0004 a0002c0001t0001g0105 a0002c0001t0001g0134 a0002c0001t0001g0156 a0002c0001t0001g0207 a0002c0001t0001g0208 a0002c0001t0001g0209 a0002c0001t0001g0218 a0002c0001t0001g0219 a0002c0001t0001g0220 a0002c0001t0001g0221 a0002c0001t0001g0222 a0002c0001t0001g0223 a0002c0001t0001g0224 a0002c0001t0001g0225 a0002c0001t0001g0226 a0002c0001t0001g0228 a0002c0001t0001g0229 a0002c0001t0001g0230 a0002c0001t0001g0231 a0002c0001t0001g0232 a0002c0001t0001g0233 a0002c0001t0001g0234 a0002c0001t0001g0238 a0002c0001t0001g0239 a0002c0001t0001g0240 a0002c0001t0001g0241 a0002c0001t0001g0242 a0002c0001t0001g0243 a0002c0001t0001g0244 a0002c0001t0001g0245 a0002c0001t0001g0246 a0002c0001t0001g0249 a0002c0001t0001g0251 a0002c0001t0001g0252 a0002c0001t0001g0253 a0002c0001t0001g0254 a0002c0001t0001g0255 a0002c0001t0001g0256 a0002c0001t0001g0257 a0002c0001t0001g0259 a0002c0001t0001g0260 a0002c0001t0001g0261 a0002c0001t0001g0262 a0002c0001t0001g0263 a0002c0001t0001g0264 a0002c0001t0001g0293 a0002c0001t0001g0294 a0002c0001t0001g0312 a0002c0001t0001g0313 a0002c0001t0001g0314 a0002c0001t0001g0315 a0002c0001t0001g0324 a0002c0001t0001g0325 a0002c0001t0001g0326 a0002c0001t0001g0327 a0002c0001t0001g0328 a0002c0001t0001g0329 a0002c0001t0001g0330 a0002c0001t0001g0331 a0002c0001t0001g0332 a0002c0001t0001g0333 a0002c0001t0001g0336 a0002c0001t0001g0337 a0002c0001t0001g0338 a0002c0001t0001g0339 a0002c0001t0001g0340 a0002c0001t0001g0341 a0002c0001t0001g0342 a0002c0001t0001g0343 a0002c0001t0001g0344 a0002c0001t0001g0345 a0002c0001t0001g0346 a0002c0001t0001g0347 a0002c0001t0001g0349 a0002c0019t0001g0044 a0002c0019t0001g0113 a0002c0020t0001g0320 a0002c0020t0001g0321 a0002c0022t0001g0061 a0002c0023t0001g0185 a0002c0023t0001g0186 a0004c0005t0001g0298 a0004c0005t0001g0299 a0004c0005t0001g0300 a0004c0005t0001g0301 a0004c0005t0001g0302 a0004c0005t0001g0303 a0004c0005t0001g0304 a0004c0005t0001g0305 a0004c0005t0001g0306 a0004c0005t0001g0307 a0004c0005t0001g0308 a0004c0005t0001g0309 a0004c0005t0001g0310 a0005c0008t0001g0335 a0005c0008t0001g0350 a0005c0008t0001g0351 a0005c0008t0001g0352 a0005c0008t0001g0353 a0005c0008t0001g0354 a0005c0008t0001g0355 a0005c0008t0001g0356 a0012c0014t0001g0117 a0012c0014t0001g0122 a0012c0014t0001g0139 a0014c0025t0001g0092 a0016c0026t0001g0348 a0017c0027t0001g0334 a0023c0028t0001g0188 a0024c0024t0001g0145	201	356	0.5646	-13	c.209 others(32): Show c.2092-4011_2092-3999delGTTTAAATTGCAG	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	18/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AXDND1_chr1_179360971_179559735	179488632	CTCCTTTC others(6): Show CTCCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01167.hp2 HG01169.hp2 others(15): Show HG01106.hp1 HG01167.hp2 HG01169.hp2 HG01255.hp1 HG01256.hp2 HG02165.hp2 HG02258.hp2 HG02280.hp2 HG02572.hp1 HG02572.hp2 HG02896.hp1 HG03041.hp2 HG03130.hp2 HG03486.hp2 NA18950.hp2 NA18986.hp2 NA19063.hp1 NA19074.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0001c0006 a0001c0007 others(3): Show a0001c0002 a0001c0006 a0001c0007 a0002c0001 a0002c0020 a0004c0005	a0001c0002t0001 a0001c0006t0001 a0001c0007t0001 others(3): Show a0001c0002t0001 a0001c0006t0001 a0001c0007t0001 a0002c0001t0001 a0002c0020t0001 a0004c0005t0001	a0001c0002t0001g0104 a0001c0002t0001g0110 a0001c0002t0001g0114 others(15): Show a0001c0002t0001g0104 a0001c0002t0001g0110 a0001c0002t0001g0114 a0001c0002t0001g0153 a0001c0002t0001g0227 a0001c0002t0001g0250 a0001c0006t0001g0258 a0001c0007t0001g0175 a0001c0007t0001g0187 a0001c0007t0001g0189 a0001c0007t0001g0190 a0002c0001t0001g0259 a0002c0001t0001g0264 a0002c0001t0001g0312 a0002c0001t0001g0343 a0002c0020t0001g0320 a0002c0020t0001g0321 a0004c0005t0001g0304	18	356	0.0506	-13	c.209 others(32): Show c.2092-2903_2092-2891delCTTTCTTTCTTTC	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	18/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AXDND1_chr1_179360971_179559735	179544683	AAAAAAAG others(6): Show AAAAAAAGAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0175 a0001c0007t0001g0175	1	356	0.0028	-13	c.303 others(32): Show c.3031+9728_3031+9740delGAAAAAGAAAAAA	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	25/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AXIN2_chr17_65523563_65566648	65538667	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0088 a0001c0003t0001g0088	1	402	0.0025	-13	c.106 others(30): Show c.1060-337_1060-325delTTTTTTTTTTTTT	AXIN2	ENSG00000168646.14	transcript	ENST00000307078.10	protein_coding	4/10			chr17	TogoVar
AZIN1_chr8_102821308_102869163	102839578	TCTAACCG others(6): Show TCTAACCGCTGTAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01175.hp2 HG01346.hp1 others(1): Show HG00140.hp1 HG01175.hp2 HG01346.hp1 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0153 a0001c0001t0006g0162 a0001c0001t0006g0163 others(1): Show a0001c0001t0006g0153 a0001c0001t0006g0162 a0001c0001t0006g0163 a0001c0001t0006g0164	4	380	0.0105	-13	c.276 others(26): Show c.276+59_276+71delTTACAGCGGTTAG	AZIN1	ENSG00000155096.15	transcript	ENST00000337198.10	protein_coding	4/11			chr8	TogoVar
B3GALNT2_chr1_235442190_235509452	235480905	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0105 a0001c0001t0048g0105	1	344	0.0029	-13	c.556 others(28): Show c.556-769_556-757delTTTTTTTTTTTTT	B3GALNT2	ENSG00000162885.14	transcript	ENST00000366600.8	protein_coding	4/11			chr1	TogoVar
B3GALNT2_chr1_235442190_235509452	235498843	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0015	1	344	0.0029	-13	c.113 others(30): Show c.113-4028_113-4016delTTTTTTTTTTTTT	B3GALNT2	ENSG00000162885.14	transcript	ENST00000366600.8	protein_coding	1/11			chr1	TogoVar
B3GALT1_chr2_167288001_167879045	167389929	AAAAAAAA others(6): Show AAAAAAAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0044 a0001c0003t0044	a0001c0003t0044g0115 a0001c0003t0044g0115	1	118	0.0085	-13	c.-51 others(34): Show c.-511+96600_-511+96612delAAAAGAAAGAAAA	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167422237	TCTCCCTC others(6): Show TCTCCCTCTCTCTG	T T	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0038 a0001c0001t0003g0038	1	118	0.0085	-13	c.-51 others(34): Show c.-510-67938_-510-67926delTCCCTCTCTCTGC	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167466323	AAGATGGT others(6): Show AAGATGGTCTTGAG	A A	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	118	0.0085	-13	c.-51 others(34): Show c.-510-23853_-510-23841delAGATGGTCTTGAG	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	1/4			chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167647361	AAGCAGCA others(6): Show AAGCAGCAGCTTAC	A A	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00738.hp2 HG01106.hp1 others(18): Show HG00673.hp2 HG00738.hp2 HG01106.hp1 HG01346.hp2 HG01891.hp1 HG02004.hp1 HG02040.hp1 HG02040.hp2 HG02683.hp2 HG02738.hp1 HG03209.hp1 HG03654.hp2 NA18947.hp1 NA18968.hp1 NA18968.hp2 NA19007.hp1 NA19056.hp1 NA19060.hp1 NA19068.hp2 NA20752.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0020 a0001c0001t0032 a0001c0001t0036 a0001c0001t0042 a0001c0001t0049	a0001c0001t0001g0043 a0001c0001t0001g0062 a0001c0001t0001g0076 others(18): Show a0001c0001t0001g0043 a0001c0001t0001g0062 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0085 a0001c0001t0003g0030 a0001c0001t0004g0013 a0001c0001t0004g0014 a0001c0001t0004g0064 a0001c0001t0004g0111 a0001c0001t0005g0101 a0001c0001t0006g0089 a0001c0001t0007g0100 a0001c0001t0007g0116 a0001c0001t0008g0005 a0001c0001t0020g0063 a0001c0001t0032g0107 a0001c0001t0036g0033 a0001c0001t0042g0074 a0001c0001t0049g0054	21	118	0.1780	-13	c.-35 others(30): Show c.-352+397_-352+409delGCAGCAGCTTACA	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167774485	GTTTTTTT others(6): Show GTTTTTTTTTTTGT	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp2 HG01106.hp2 others(26): Show HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01255.hp1 HG01261.hp1 HG01346.hp1 HG02004.hp2 HG02109.hp2 HG02258.hp2 HG02647.hp2 HG02723.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03540.hp1 HG03579.hp1 HG03927.hp1 HG04204.hp1 HG06807.hp1 NA18948.hp2 NA19007.hp2 NA19060.hp2 NA19068.hp1 NA20300.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0023 a0001c0001t0026 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0033 a0001c0001t0038 a0001c0001t0043 a0001c0001t0048	a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0002g0010 others(26): Show a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0002g0010 a0001c0001t0002g0018 a0001c0001t0002g0029 a0001c0001t0002g0052 a0001c0001t0002g0070 a0001c0001t0002g0113 a0001c0001t0003g0038 a0001c0001t0003g0059 a0001c0001t0003g0112 a0001c0001t0005g0024 a0001c0001t0008g0080 a0001c0001t0009g0031 a0001c0001t0010g0092 a0001c0001t0014g0026 a0001c0001t0015g0079 a0001c0001t0016g0053 a0001c0001t0016g0077 a0001c0001t0017g0099 a0001c0001t0023g0037 a0001c0001t0026g0009 a0001c0001t0029g0036 a0001c0001t0030g0072 a0001c0001t0031g0057 a0001c0001t0033g0016 a0001c0001t0038g0025 a0001c0001t0043g0086 a0001c0001t0048g0021	29	118	0.2458	-13	c.-35 others(34): Show c.-351-44175_-351-44163delGTTTTTTTTTTTT	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GALT5_chr21_39607940_39678137	39674690	TTTCACTG others(6): Show TTTCACTGCCCTCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0195 a0001c0001t0047g0195	1	336	0.0030	-13	c.13 others(26): Show c.13199_*13211delTTCACTGCCCTCA	B3GALT5	ENSG00000183778.19	transcript	ENST00000684187.2	protein_coding		1554		chr21	TogoVar
B3GALT6_chr1_1227237_1240041	1234193	CCGACGCG others(6): Show CCGACGCGGGTTTT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0000 a0001c0001t0022g0000	1	366	0.0027	-13	c.92 others(22): Show c.927_*939delGACGCGGGTTTTC	B3GALT6	ENSG00000176022.7	transcript	ENST00000379198.5	protein_coding	1/1	927	INFO_REALIGN_3_PRIME	chr1	TogoVar
B3GNT2_chr2_62191115_62229731	62191509	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	406	0.0025	-13	c.-48 others(24): Show c.-4855_-4843delTTTTTTTTTTTTT	B3GNT2	ENSG00000170340.11	transcript	ENST00000301998.5	protein_coding		4605		chr2	TogoVar
B3GNT4_chr12_122198709_122213952	122209028	AAAAGGTA others(6): Show AAAAGGTATTAAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02717.hp2 HG02622.hp1 HG02717.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0020 a0007c0007t0020	a0007c0007t0020g0006 a0007c0007t0020g0006	2	412	0.0049	-13	c.16 others(24): Show c.1641_*1653delAAAGGTATTAAAT	B3GNT4	ENSG00000176383.9	transcript	ENST00000324189.5	protein_coding		77		chr12	TogoVar
B3GNT4_chr12_122198709_122213952	122209892	ACCTTTAT others(6): Show ACCTTTATTACATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	412	0.0024	-13	c.25 others(24): Show c.2505_*2517delCCTTTATTACATT	B3GNT4	ENSG00000176383.9	transcript	ENST00000324189.5	protein_coding		941		chr12	TogoVar
B3GNT4_chr12_122198709_122213952	122211071	TAAAAGTA others(6): Show TAAAAGTAAAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	412	0.0024	-13	c.36 others(24): Show c.3684_*3696delAAAAGTAAAAAAA	B3GNT4	ENSG00000176383.9	transcript	ENST00000324189.5	protein_coding		2120		chr12	TogoVar
B3GNT6_chr11_77029398_77046973	77038031	AGAGGGAT others(6): Show AGAGGGATAGGATG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03098.hp2 HG06807.hp1 HG02258.hp1 HG03098.hp2 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0021 a0001c0002t0003g0021	3	442	0.0068	-13	c.1-1 others(26): Show c.1-1519_1-1507delAGGGATAGGATGG	B3GNT6	ENSG00000198488.10	transcript	ENST00000622824.1	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr11	TogoVar
B3GNTL1_chr17_82937149_83056770	83051084	AGGCAGGT others(6): Show AGGCAGGTGCGCGC	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01243.hp1 HG02559.hp2 others(4): Show HG00639.hp2 HG01243.hp1 HG02559.hp2 HG02630.hp2 HG03209.hp2 HG03516.hp2 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0037 a0001c0001t0039 a0002c0005t0007	a0001c0001t0002g0064 a0001c0001t0004g0257 a0001c0001t0004g0258 others(4): Show a0001c0001t0002g0064 a0001c0001t0004g0257 a0001c0001t0004g0258 a0001c0001t0005g0256 a0001c0001t0037g0259 a0001c0001t0039g0260 a0002c0005t0007g0261	7	266	0.0263	-13	c.15+ others(26): Show c.15+640_15+652delGCGCGCACCTGCC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	1/12			chr17	TogoVar
B4GALNT3_chr12_454939_568509	511013	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG02897.hp2 NA18941.hp2 others(2): Show HG01516.hp1 HG02897.hp2 NA18941.hp2 NA18984.hp2 NA19079.hp1	a0001 a0003 a0012 others(1): Show a0001 a0003 a0012 a0015	a0001c0001 a0003c0004 a0012c0019 others(1): Show a0001c0001 a0003c0004 a0012c0019 a0015c0031	a0001c0001t0003 a0001c0001t0015 a0003c0004t0003 others(2): Show a0001c0001t0003 a0001c0001t0015 a0003c0004t0003 a0012c0019t0002 a0015c0031t0004	a0001c0001t0003g0350 a0001c0001t0015g0224 a0003c0004t0003g0134 others(2): Show a0001c0001t0003g0350 a0001c0001t0015g0224 a0003c0004t0003g0134 a0012c0019t0002g0185 a0015c0031t0004g0066	5	394	0.0127	-13	c.170 others(32): Show c.170-24123_170-24111delTTTTTTTTTTTTT	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT3_chr12_454939_568509	512051	TCGACCTT others(6): Show TCGACCTTCTTCCA	T T	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0014 a0004c0005t0014	a0004c0005t0014g0290 a0004c0005t0014g0290	1	394	0.0025	-13	c.170 others(32): Show c.170-23113_170-23101delGACCTTCTTCCAC	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT3_chr12_454939_568509	512246	CCTTCTTC others(6): Show CCTTCTTCCACCTT	C C	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0014 a0004c0005t0014	a0004c0005t0014g0290 a0004c0005t0014g0290	1	394	0.0025	-13	c.170 others(32): Show c.170-22915_170-22903delTTCCACCTTCTTC	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALT1_chr9_33105642_33172336	33130879	AGAAGCAG others(6): Show AGAAGCAGGCAGAG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00733.hp1 HG01358.hp2 others(19): Show HG00280.hp2 HG00733.hp1 HG01358.hp2 HG01433.hp2 HG01934.hp2 HG01978.hp2 HG02615.hp2 HG03491.hp1 HG03492.hp2 NA18950.hp1 NA18952.hp1 NA18959.hp1 NA18961.hp1 NA18974.hp2 NA18991.hp1 NA18995.hp1 NA18999.hp1 NA19002.hp1 NA19010.hp2 NA19060.hp1 NA19074.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0013 others(5): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0013 a0001c0001t0024 a0001c0001t0027 a0001c0001t0030 a0001c0001t0032 a0001c0001t0058	a0001c0001t0001g0017 a0001c0001t0011g0003 a0001c0001t0011g0018 others(17): Show a0001c0001t0001g0017 a0001c0001t0011g0003 a0001c0001t0011g0018 a0001c0001t0011g0025 a0001c0001t0011g0026 a0001c0001t0013g0023 a0001c0001t0013g0027 a0001c0001t0013g0028 a0001c0001t0013g0029 a0001c0001t0013g0030 a0001c0001t0013g0031 a0001c0001t0024g0019 a0001c0001t0024g0020 a0001c0001t0024g0021 a0001c0001t0027g0002 a0001c0001t0030g0014 a0001c0001t0030g0015 a0001c0001t0032g0022 a0001c0001t0032g0024 a0001c0001t0058g0016	22	366	0.0601	-13	c.648 others(30): Show c.648+4297_648+4309delCTCTGCCTGCTTC	B4GALT1	ENSG00000086062.13	transcript	ENST00000379731.5	protein_coding	2/5			chr9	TogoVar
B4GALT3_chr1_161166310_161182507	161167557	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02630.hp2 HG02572.hp1 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0001 a0001c0001t0001g0004	2	374	0.0054	-13	c.42 others(24): Show c.4246_*4258delAAAAAAAAAAAAA	B4GALT3	ENSG00000158850.15	transcript	ENST00000319769.10	protein_coding		3752		chr1	TogoVar
B4GALT5_chr20_49627945_49718878	49663691	ATATATAC others(6): Show ATATATACATATAT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00597.hp2 HG00621.hp2 others(17): Show HG00558.hp2 HG00597.hp2 HG00621.hp2 HG01261.hp1 HG01346.hp1 HG01975.hp2 HG01993.hp1 HG02015.hp2 HG02738.hp2 HG03834.hp1 NA18969.hp2 NA18973.hp2 NA18982.hp1 NA18988.hp2 NA18994.hp1 NA19060.hp2 NA19072.hp2 NA19074.hp2 NA19075.hp2 NA19082.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0014 a0002c0004t0032 a0002c0004t0005 a0002c0004t0014 a0002c0004t0032	a0002c0004t0005g0220 a0002c0004t0005g0221 a0002c0004t0005g0222 others(17): Show a0002c0004t0005g0220 a0002c0004t0005g0221 a0002c0004t0005g0222 a0002c0004t0005g0223 a0002c0004t0005g0224 a0002c0004t0005g0225 a0002c0004t0005g0226 a0002c0004t0005g0227 a0002c0004t0005g0229 a0002c0004t0005g0230 a0002c0004t0005g0231 a0002c0004t0005g0232 a0002c0004t0005g0234 a0002c0004t0005g0235 a0002c0004t0005g0236 a0002c0004t0005g0242 a0002c0004t0005g0244 a0002c0004t0005g0245 a0002c0004t0014g0228 a0002c0004t0032g0243	20	364	0.0550	-13	c.116 others(30): Show c.116-7002_116-6990delATATATGTATATA	B4GALT5	ENSG00000158470.5	transcript	ENST00000371711.4	protein_coding	1/8			chr20	TogoVar

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