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
B4GALNT3_chr12_454939_568509	512039	T T	TTCCACCT others(3): Show TTCCACCTTCG	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18954.hp2 NA18612.hp1 NA18954.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0005c0006t0003 a0001c0001t0001 a0005c0006t0003	a0001c0001t0001g0015 a0005c0006t0003g0238 a0001c0001t0001g0015 a0005c0006t0003g0238	2	394	0.0051	10	c.170 others(29): Show c.170-23127_170-23126insTCCACCTTCG	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19			chr12	TogoVar
B4GALNT3_chr12_454939_568509	512180	C C	CCTTCCAC others(3): Show CCTTCCACCTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0017 a0007c0008t0017	a0007c0008t0017g0178 a0007c0008t0017g0178	1	394	0.0025	10	c.170 others(29): Show c.170-22984_170-22975dupTTCCACCTTC	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT3_chr12_454939_568509	512194	C C	CCTTCCAC others(3): Show CCTTCCACCTT	intron_variant intron_variant	MODIFIER	HG04184.hp2 NA18966.hp2 HG04184.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0269 a0001c0001t0002g0052 a0001c0001t0001g0269 a0001c0001t0002g0052	2	394	0.0051	10	c.170 others(29): Show c.170-22970_170-22961dupTTCCACCTTC	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT3_chr12_454939_568509	545651	T T	TGGGGAGG others(3): Show TGGGGAGGAGC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02896.hp2 HG02897.hp1 HG02717.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0022 a0001c0001t0016 a0001c0001t0022	a0001c0001t0016g0179 a0001c0001t0022g0036 a0001c0001t0022g0037 a0001c0001t0016g0179 a0001c0001t0022g0036 a0001c0001t0022g0037	3	394	0.0076	10	c.639 others(25): Show c.639+183_639+184insGGGAGGAGCG	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	6/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT3_chr12_454939_568509	547155	C C	CGGGCGTT others(3): Show CGGGCGTTGCT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00423.hp1 others(150): Show HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00609.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00741.hp2 HG01074.hp2 HG01081.hp1 HG01109.hp2 HG01167.hp1 HG01175.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02109.hp1 HG02129.hp2 HG02145.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02895.hp2 HG02897.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03209.hp2 HG03239.hp2 HG03471.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18522.hp1 NA18612.hp1 NA18906.hp2 NA18941.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18962.hp1 NA18966.hp2 NA18967.hp2 NA18975.hp2 NA18979.hp1 NA18981.hp1 NA18984.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp2 NA19010.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19079.hp1 NA19081.hp2 NA19083.hp2 NA19084.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(16): Show a0001 a0002 a0003 a0004 a0005 a0009 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0022 a0024 a0025 a0027	a0001c0001 a0001c0010 a0001c0013 others(26): Show a0001c0001 a0001c0010 a0001c0013 a0001c0039 a0001c0044 a0001c0048 a0002c0003 a0002c0034 a0002c0036 a0003c0004 a0003c0049 a0004c0005 a0005c0006 a0005c0017 a0005c0025 a0009c0018 a0011c0015 a0012c0019 a0013c0021 a0014c0022 a0015c0031 a0016c0032 a0017c0033 a0018c0035 a0019c0037 a0022c0043 a0024c0050 a0025c0029 a0027c0026	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(98): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0024 a0001c0001t0026 a0001c0001t0035 a0001c0001t0036 a0001c0001t0042 a0001c0001t0045 a0001c0001t0052 a0001c0001t0053 a0001c0001t0062 a0001c0010t0002 a0001c0013t0001 a0001c0013t0002 a0001c0013t0020 a0001c0039t0002 a0001c0044t0001 a0001c0048t0044 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0004 a0002c0003t0005 a0002c0003t0006 a0002c0003t0007 a0002c0003t0008 a0002c0003t0012 a0002c0003t0013 a0002c0003t0018 a0002c0003t0019 a0002c0003t0024 a0002c0003t0025 a0002c0003t0032 a0002c0003t0033 a0002c0003t0034 a0002c0003t0040 a0002c0003t0041 a0002c0003t0071 a0002c0003t0076 a0002c0034t0072 a0002c0036t0006 a0003c0004t0001 a0003c0004t0002 a0003c0004t0003 a0003c0004t0004 a0003c0004t0005 a0003c0004t0008 a0003c0004t0016 a0003c0004t0020 a0003c0004t0024 a0003c0004t0029 a0003c0004t0038 a0003c0004t0048 a0003c0004t0064 a0003c0004t0066 a0003c0004t0080 a0003c0004t0086 a0003c0049t0002 a0004c0005t0003 a0004c0005t0004 a0004c0005t0014 a0004c0005t0015 a0004c0005t0043 a0004c0005t0051 a0005c0006t0001 a0005c0006t0003 a0005c0006t0004 a0005c0006t0008 a0005c0006t0011 a0005c0006t0016 a0005c0006t0035 a0005c0006t0063 a0005c0017t0001 a0005c0017t0002 a0005c0025t0002 a0009c0018t0002 a0009c0018t0005 a0011c0015t0013 a0011c0015t0039 a0011c0015t0092 a0012c0019t0002 a0013c0021t0001 a0013c0021t0002 a0014c0022t0010 a0015c0031t0004 a0016c0032t0002 a0017c0033t0001 a0018c0035t0010 a0019c0037t0002 a0022c0043t0004 a0024c0050t0026 a0025c0029t0003 a0027c0026t0003	a0001c0001t0001g0021 a0001c0001t0001g0034 a0001c0001t0001g0096 others(150): Show a0001c0001t0001g0021 a0001c0001t0001g0034 a0001c0001t0001g0096 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0257 a0001c0001t0001g0269 a0001c0001t0001g0368 a0001c0001t0001g0376 a0001c0001t0002g0024 a0001c0001t0002g0029 a0001c0001t0002g0042 a0001c0001t0002g0052 a0001c0001t0003g0154 a0001c0001t0004g0176 a0001c0001t0004g0372 a0001c0001t0005g0225 a0001c0001t0005g0380 a0001c0001t0006g0065 a0001c0001t0007g0017 a0001c0001t0007g0025 a0001c0001t0007g0030 a0001c0001t0007g0083 a0001c0001t0007g0120 a0001c0001t0007g0289 a0001c0001t0008g0002 a0001c0001t0008g0381 a0001c0001t0009g0026 a0001c0001t0009g0071 a0001c0001t0009g0117 a0001c0001t0012g0113 a0001c0001t0012g0353 a0001c0001t0024g0055 a0001c0001t0026g0273 a0001c0001t0035g0378 a0001c0001t0036g0213 a0001c0001t0042g0367 a0001c0001t0045g0359 a0001c0001t0052g0240 a0001c0001t0053g0077 a0001c0001t0062g0382 a0001c0010t0002g0018 a0001c0010t0002g0098 a0001c0010t0002g0256 a0001c0013t0001g0128 a0001c0013t0002g0177 a0001c0013t0020g0129 a0001c0039t0002g0319 a0001c0044t0001g0383 a0001c0048t0044g0394 a0002c0003t0001g0058 a0002c0003t0001g0159 a0002c0003t0001g0249 a0002c0003t0001g0335 a0002c0003t0002g0103 a0002c0003t0002g0131 a0002c0003t0002g0215 a0002c0003t0003g0038 a0002c0003t0003g0157 a0002c0003t0003g0158 a0002c0003t0003g0272 a0002c0003t0004g0250 a0002c0003t0004g0348 a0002c0003t0005g0341 a0002c0003t0005g0361 a0002c0003t0006g0046 a0002c0003t0006g0136 a0002c0003t0006g0345 a0002c0003t0007g0156 a0002c0003t0008g0078 a0002c0003t0012g0108 a0002c0003t0012g0292 a0002c0003t0013g0068 a0002c0003t0018g0251 a0002c0003t0019g0084 a0002c0003t0019g0085 a0002c0003t0024g0333 a0002c0003t0025g0061 a0002c0003t0032g0347 a0002c0003t0033g0076 a0002c0003t0034g0056 a0002c0003t0040g0149 a0002c0003t0041g0221 a0002c0003t0071g0296 a0002c0003t0076g0155 a0002c0034t0072g0210 a0002c0036t0006g0346 a0003c0004t0001g0217 a0003c0004t0002g0197 a0003c0004t0002g0285 a0003c0004t0002g0297 a0003c0004t0002g0305 a0003c0004t0003g0134 a0003c0004t0004g0390 a0003c0004t0005g0172 a0003c0004t0005g0173 a0003c0004t0005g0174 a0003c0004t0008g0070 a0003c0004t0008g0310 a0003c0004t0008g0362 a0003c0004t0016g0313 a0003c0004t0020g0189 a0003c0004t0024g0171 a0003c0004t0029g0182 a0003c0004t0029g0300 a0003c0004t0038g0148 a0003c0004t0038g0284 a0003c0004t0048g0047 a0003c0004t0064g0286 a0003c0004t0066g0309 a0003c0004t0080g0201 a0003c0004t0086g0302 a0003c0049t0002g0091 a0004c0005t0003g0094 a0004c0005t0003g0122 a0004c0005t0003g0124 a0004c0005t0004g0354 a0004c0005t0014g0290 a0004c0005t0015g0060 a0004c0005t0043g0219 a0004c0005t0051g0123 a0005c0006t0001g0161 a0005c0006t0003g0160 a0005c0006t0003g0238 a0005c0006t0004g0020 a0005c0006t0008g0216 a0005c0006t0011g0022 a0005c0006t0016g0188 a0005c0006t0035g0356 a0005c0006t0063g0183 a0005c0017t0001g0267 a0005c0017t0002g0259 a0005c0025t0002g0193 a0009c0018t0002g0132 a0009c0018t0005g0170 a0011c0015t0013g0280 a0011c0015t0039g0303 a0011c0015t0092g0234 a0012c0019t0002g0185 a0012c0019t0002g0186 a0013c0021t0001g0031 a0013c0021t0002g0254 a0014c0022t0010g0086 a0014c0022t0010g0192 a0015c0031t0004g0066 a0016c0032t0002g0006 a0017c0033t0001g0001 a0018c0035t0010g0342 a0019c0037t0002g0227 a0022c0043t0004g0119 a0024c0050t0026g0274 a0025c0029t0003g0370 a0027c0026t0003g0059	153	394	0.3883	10	c.707 others(25): Show c.707+455_707+464dupGCGTTGCTGG	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT3_chr12_454939_568509	552292	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA19074.hp2 NA18906.hp1 NA19074.hp2	a0001 a0007 a0001 a0007	a0001c0002 a0007c0008 a0001c0002 a0007c0008	a0001c0002t0005 a0007c0008t0027 a0001c0002t0005 a0007c0008t0027	a0001c0002t0005g0364 a0007c0008t0027g0145 a0001c0002t0005g0364 a0007c0008t0027g0145	2	394	0.0051	10	c.120 others(27): Show c.1209-140_1209-131dupACACACACAC	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT4_chr11_364499_387117	369999	C C	CGGGGGGC others(3): Show CGGGGGGCGCG	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0156 a0002c0002t0001g0156	1	184	0.0054	10	c.151 others(23): Show c.151+51_151+60dupGCGCGGGGGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	374690	G G	GGGAGGAG others(3): Show GGGAGGAGGAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0168 a0002c0004t0001g0168	1	184	0.0054	10	c.784 others(25): Show c.784-766_784-765insAGGAAGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	374857	A A	AGGGAGGG others(3): Show AGGGAGGGAGG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0014 a0001c0003t0004g0014	1	184	0.0054	10	c.784 others(25): Show c.784-604_784-603insGGGAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19			chr11	TogoVar
B4GALNT4_chr11_364499_387117	374958	G G	GGAGGAAG others(3): Show GGAGGAAGGGA	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0012 a0012	a0012c0016 a0012c0016	a0012c0016t0001 a0012c0016t0001	a0012c0016t0001g0108 a0012c0016t0001g0108	1	184	0.0054	10	c.784 others(25): Show c.784-502_784-501insAGGAAGGGAG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	375022	G G	GGGAGGAG others(3): Show GGGAGGAGGAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	184	0.0054	10	c.784 others(25): Show c.784-434_784-433insAGGAAGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	375112	G G	GGGAGGGA others(3): Show GGGAGGGAGGA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	184	0.0054	10	c.784 others(25): Show c.784-345_784-336dupGGGAGGAGGA	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALT1_chr9_33105642_33172336	33135890	A A	AGTGTGTG others(3): Show AGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0153 a0001c0001t0019g0153	1	366	0.0027	10	c.413 others(25): Show c.413-476_413-467dupACACACACAC	B4GALT1	ENSG00000086062.13	transcript	ENST00000379731.5	protein_coding	1/5			chr9	TogoVar
B4GALT1_chr9_33105642_33172336	33150233	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01074.hp2 HG01261.hp2 others(1): Show HG01070.hp1 HG01074.hp2 HG01261.hp2 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0119 a0001c0001t0001g0134 a0001c0001t0003g0128 others(1): Show a0001c0001t0001g0119 a0001c0001t0001g0134 a0001c0001t0003g0128 a0001c0001t0003g0319	4	366	0.0109	10	c.413 others(29): Show c.413-14819_413-14810dupGTGTGTGTGT	B4GALT1	ENSG00000086062.13	transcript	ENST00000379731.5	protein_coding	1/5			chr9	TogoVar
B4GALT1_chr9_33105642_33172336	33152309	A A	AATAACAT others(3): Show AATAACATAAC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01167.hp2 HG01261.hp2 others(12): Show HG01099.hp1 HG01167.hp2 HG01261.hp2 HG01952.hp1 HG03710.hp1 HG06807.hp2 NA18948.hp2 NA18950.hp2 NA18970.hp2 NA18974.hp1 NA18980.hp2 NA19012.hp2 NA19070.hp1 NA19088.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0061	a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0081 others(12): Show a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0151 a0001c0001t0001g0295 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0004g0161 a0001c0001t0061g0162	15	366	0.0410	10	c.412 others(29): Show c.412+14439_412+14448dupGTTATGTTAT	B4GALT1	ENSG00000086062.13	transcript	ENST00000379731.5	protein_coding	1/5			chr9	TogoVar
B4GALT1_chr9_33105642_33172336	33157063	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02293.hp2 HG02559.hp1 others(14): Show HG01496.hp2 HG02293.hp2 HG02559.hp1 HG02683.hp1 HG02809.hp1 HG02896.hp1 HG03041.hp2 HG03195.hp2 HG03209.hp2 HG03239.hp2 HG03486.hp1 NA18906.hp2 NA18951.hp2 NA18959.hp2 NA19030.hp2 NA19043.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(8): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0016 a0001c0001t0031 a0001c0001t0033 a0001c0001t0055 a0001c0001t0060	a0001c0001t0002g0210 a0001c0001t0002g0266 a0001c0001t0003g0310 others(14): Show a0001c0001t0002g0210 a0001c0001t0002g0266 a0001c0001t0003g0310 a0001c0001t0003g0317 a0001c0001t0003g0322 a0001c0001t0004g0302 a0001c0001t0007g0324 a0001c0001t0007g0336 a0001c0001t0007g0338 a0001c0001t0008g0337 a0001c0001t0012g0335 a0001c0001t0016g0326 a0001c0001t0031g0342 a0001c0001t0031g0343 a0001c0001t0033g0301 a0001c0001t0055g0283 a0001c0001t0060g0334	17	366	0.0465	10	c.412 others(27): Show c.412+9685_412+9694dupGTGTGTGTGT	B4GALT1	ENSG00000086062.13	transcript	ENST00000379731.5	protein_coding	1/5			chr9	TogoVar
B4GALT1_chr9_33105642_33172336	33157121	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01358.hp2 HG01433.hp2 others(18): Show HG00280.hp1 HG01358.hp2 HG01433.hp2 HG01891.hp2 HG01934.hp2 HG01978.hp2 HG02109.hp1 HG02257.hp2 HG02647.hp1 HG02717.hp1 HG02965.hp1 HG02970.hp1 HG03130.hp2 HG03516.hp1 HG03516.hp2 NA18906.hp1 NA18952.hp1 NA18961.hp1 NA18995.hp1 NA19002.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0019 a0001c0001t0024 a0001c0001t0043 a0001c0001t0058 a0001c0001t0071	a0001c0001t0001g0017 a0001c0001t0002g0275 a0001c0001t0002g0276 others(17): Show a0001c0001t0001g0017 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0005g0277 a0001c0001t0005g0278 a0001c0001t0007g0345 a0001c0001t0011g0003 a0001c0001t0011g0018 a0001c0001t0019g0153 a0001c0001t0019g0154 a0001c0001t0024g0019 a0001c0001t0024g0020 a0001c0001t0024g0021 a0001c0001t0043g0168 a0001c0001t0058g0016 a0001c0001t0071g0171	21	366	0.0574	10	c.412 others(27): Show c.412+9627_412+9636dupGTGTGTGTGT	B4GALT1	ENSG00000086062.13	transcript	ENST00000379731.5	protein_coding	1/5			chr9	TogoVar
B4GALT5_chr20_49627945_49718878	49636907	G G	GACACACA others(3): Show GACACACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00423.hp2 others(114): Show HG00280.hp1 HG00408.hp1 HG00423.hp2 HG00639.hp1 HG00673.hp1 HG01071.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01258.hp2 HG01361.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02155.hp1 HG02273.hp1 HG02293.hp1 HG02559.hp1 HG02602.hp1 HG02622.hp1 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03209.hp1 HG03239.hp1 HG03471.hp1 HG03490.hp2 HG03516.hp2 HG03540.hp2 HG03710.hp1 HG03831.hp1 HG04115.hp1 HG04184.hp1 HG04228.hp1 HG06807.hp1 NA18612.hp1 NA18747.hp1 NA18940.hp2 NA18941.hp2 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18950.hp1 NA18953.hp1 NA18960.hp1 NA18962.hp1 NA18963.hp2 NA18966.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18979.hp1 NA18982.hp2 NA18988.hp1 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18997.hp2 NA19002.hp2 NA19003.hp1 NA19004.hp2 NA19005.hp2 NA19010.hp1 NA19011.hp1 NA19030.hp2 NA19043.hp1 NA19057.hp1 NA19058.hp2 NA19060.hp1 NA19063.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19072.hp1 NA19074.hp1 NA19076.hp1 NA19077.hp2 NA19078.hp1 NA19084.hp2 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0003c0006	a0001c0001t0006 a0001c0001t0022 a0001c0001t0035 others(15): Show a0001c0001t0006 a0001c0001t0022 a0001c0001t0035 a0001c0001t0044 a0001c0002t0001 a0001c0002t0010 a0001c0002t0013 a0001c0002t0015 a0001c0002t0016 a0001c0002t0017 a0001c0002t0028 a0001c0002t0053 a0001c0002t0054 a0001c0002t0055 a0001c0002t0056 a0001c0005t0001 a0001c0005t0051 a0003c0006t0001	a0001c0001t0006g0178 a0001c0001t0022g0098 a0001c0001t0022g0099 others(114): Show a0001c0001t0006g0178 a0001c0001t0022g0098 a0001c0001t0022g0099 a0001c0001t0035g0128 a0001c0001t0044g0096 a0001c0002t0001g0248 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0253 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0257 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0001g0260 a0001c0002t0001g0261 a0001c0002t0001g0262 a0001c0002t0001g0263 a0001c0002t0001g0264 a0001c0002t0001g0265 a0001c0002t0001g0266 a0001c0002t0001g0269 a0001c0002t0001g0270 a0001c0002t0001g0271 a0001c0002t0001g0272 a0001c0002t0001g0280 a0001c0002t0001g0281 a0001c0002t0001g0282 a0001c0002t0001g0283 a0001c0002t0001g0284 a0001c0002t0001g0285 a0001c0002t0001g0286 a0001c0002t0001g0287 a0001c0002t0001g0288 a0001c0002t0001g0293 a0001c0002t0001g0295 a0001c0002t0001g0299 a0001c0002t0001g0300 a0001c0002t0001g0301 a0001c0002t0001g0302 a0001c0002t0001g0304 a0001c0002t0001g0305 a0001c0002t0001g0306 a0001c0002t0001g0308 a0001c0002t0001g0309 a0001c0002t0001g0312 a0001c0002t0001g0313 a0001c0002t0001g0314 a0001c0002t0001g0316 a0001c0002t0001g0317 a0001c0002t0001g0319 a0001c0002t0001g0320 a0001c0002t0001g0321 a0001c0002t0001g0322 a0001c0002t0001g0325 a0001c0002t0001g0326 a0001c0002t0001g0327 a0001c0002t0001g0328 a0001c0002t0001g0329 a0001c0002t0001g0332 a0001c0002t0001g0333 a0001c0002t0001g0334 a0001c0002t0001g0336 a0001c0002t0001g0337 a0001c0002t0001g0339 a0001c0002t0001g0340 a0001c0002t0001g0341 a0001c0002t0001g0346 a0001c0002t0001g0347 a0001c0002t0001g0351 a0001c0002t0001g0353 a0001c0002t0001g0354 a0001c0002t0001g0355 a0001c0002t0001g0356 a0001c0002t0010g0276 a0001c0002t0010g0315 a0001c0002t0010g0344 a0001c0002t0010g0345 a0001c0002t0013g0310 a0001c0002t0013g0343 a0001c0002t0013g0350 a0001c0002t0015g0278 a0001c0002t0015g0279 a0001c0002t0016g0291 a0001c0002t0016g0303 a0001c0002t0016g0331 a0001c0002t0017g0249 a0001c0002t0017g0250 a0001c0002t0017g0330 a0001c0002t0028g0318 a0001c0002t0028g0324 a0001c0002t0053g0267 a0001c0002t0054g0352 a0001c0002t0055g0311 a0001c0002t0056g0348 a0001c0005t0001g0003 a0001c0005t0001g0004 a0001c0005t0001g0005 a0001c0005t0001g0006 a0001c0005t0001g0007 a0001c0005t0001g0008 a0001c0005t0001g0009 a0001c0005t0001g0010 a0001c0005t0001g0012 a0001c0005t0001g0013 a0001c0005t0001g0014 a0001c0005t0001g0015 a0001c0005t0001g0016 a0001c0005t0001g0017 a0001c0005t0001g0018 a0001c0005t0051g0011 a0003c0006t0001g0268 a0003c0006t0001g0273 a0003c0006t0001g0274 a0003c0006t0001g0275 a0003c0006t0001g0290 a0003c0006t0001g0323	117	364	0.3214	10	c.101 others(27): Show c.1019+424_1019+433dupGTGTGTGTGT	B4GALT5	ENSG00000158470.5	transcript	ENST00000371711.4	protein_coding	8/8			chr20	TogoVar
B4GALT5_chr20_49627945_49718878	49664421	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02976.hp2 NA18945.hp1 HG02735.hp1 HG02976.hp2 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0001 a0001c0001t0006 a0001c0002t0001	a0001c0001t0006g0177 a0001c0002t0001g0283 a0001c0002t0001g0297 a0001c0001t0006g0177 a0001c0002t0001g0283 a0001c0002t0001g0297	3	364	0.0082	10	c.116 others(27): Show c.116-7729_116-7720dupGTGTGTGTGT	B4GALT5	ENSG00000158470.5	transcript	ENST00000371711.4	protein_coding	1/8			chr20	TogoVar
B4GAT1_chr11_66340374_66352629	66342056	C C	CTGTGTGT others(3): Show CTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	412	0.0024	10	c.39 others(21): Show c.3983_*3992dupCACACACACA	B4GAT1	ENSG00000174684.7	transcript	ENST00000311181.5	protein_coding		3317		chr11	TogoVar
BAALC_chr8_103135725_103235305	103150333	C C	CTGTGTGT others(3): Show CTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02572.hp1 HG00099.hp2 HG02572.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0260 a0001c0003t0009g0262 a0001c0003t0009g0260 a0001c0003t0009g0262	2	332	0.0060	10	c.160 others(27): Show c.160+9286_160+9295dupGTGTGTGTGT	BAALC	ENSG00000164929.17	transcript	ENST00000309982.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
BAAT_chr9_101355417_101390006	101389775	T T	TGGGGGGG others(3): Show TGGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	418	0.0024	10	c.-49 others(21): Show c.-4981_-4980insCCCCCCCCCC	BAAT	ENSG00000136881.12	transcript	ENST00000259407.7	protein_coding		4770		chr9	TogoVar
BABAM1_chr19_17262443_17284337	17273547	T T	TTTTTTTT others(3): Show TTTTTTTTTTG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0166 a0001c0001t0003g0166	1	424	0.0024	10	c.345 others(25): Show c.345-350_345-349insTTGTTTTTTT	BABAM1	ENSG00000105393.16	transcript	ENST00000598188.6	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
BABAM2_chr2_27885729_28343901	27982844	T T	TATACACA others(3): Show TATACACACAC	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	158	0.0063	10	c.206 others(27): Show c.206-5148_206-5147insTACACACACA	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	27983942	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01109.hp1 HG01109.hp2 others(9): Show HG00733.hp2 HG01109.hp1 HG01109.hp2 HG01496.hp1 HG02735.hp1 HG03017.hp2 HG03139.hp1 HG03195.hp2 HG03540.hp1 HG03834.hp1 NA19030.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 others(9): Show a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0138 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0026 a0001c0001t0002g0126 a0001c0001t0002g0140 a0001c0001t0003g0090 a0001c0001t0003g0135	12	158	0.0760	10	c.206 others(27): Show c.206-4041_206-4032dupTTTTTTTTTT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	27985057	A A	ATGTGTGT others(3): Show ATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02109.hp1 HG02723.hp1 others(1): Show HG00738.hp1 HG02109.hp1 HG02723.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0015 a0001c0001t0001g0139 a0001c0001t0002g0007 others(1): Show a0001c0001t0001g0015 a0001c0001t0001g0139 a0001c0001t0002g0007 a0001c0001t0002g0037	4	158	0.0253	10	c.206 others(27): Show c.206-2904_206-2895dupGTGTGTGTGT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28013694	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp2 HG01081.hp1 others(3): Show HG00741.hp1 HG00741.hp2 HG01081.hp1 HG02074.hp1 HG03225.hp2 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0041 a0001c0001t0001g0070 a0001c0001t0001g0071 others(3): Show a0001c0001t0001g0041 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0084 a0001c0001t0001g0154 a0001c0001t0002g0144	6	158	0.0380	10	c.301 others(29): Show c.301-11505_301-11496dupACACACACAC	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28020952	G G	GACACACA others(3): Show GACACACACAC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG03209.hp2 HG03225.hp1 others(4): Show HG01168.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp2 HG03486.hp2 NA18906.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0093 others(4): Show a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0002g0050 a0001c0001t0002g0112 a0001c0001t0003g0089 a0001c0001t0004g0118	7	158	0.0443	10	c.301 others(27): Show c.301-4244_301-4235dupCACACACACA	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28026875	T T	TATATATA others(3): Show TATATATATAG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp2 HG01099.hp2 others(4): Show HG00140.hp2 HG00639.hp2 HG01099.hp2 HG01433.hp1 HG01496.hp2 HG02145.hp1 HG02818.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0017 a0001c0001t0001g0053 a0001c0001t0001g0080 others(4): Show a0001c0001t0001g0017 a0001c0001t0001g0053 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0002g0061 a0001c0001t0002g0077 a0002c0002t0001g0085	7	158	0.0443	10	c.495 others(27): Show c.495+1464_495+1465insGATATATATA	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28096471	G G	GAATATGA others(3): Show GAATATGAGAT	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0062 a0001c0001t0002g0062	1	158	0.0063	10	c.571 others(29): Show c.571-32799_571-32790dupAATATGAGAT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28103301	T T	TTTTTGTT others(3): Show TTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp1 HG00733.hp1 others(71): Show HG00140.hp2 HG00639.hp1 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01167.hp1 HG01168.hp2 HG01192.hp2 HG01243.hp1 HG01346.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01891.hp1 HG01934.hp2 HG02027.hp1 HG02040.hp2 HG02135.hp1 HG02145.hp1 HG02155.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02698.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp2 HG02818.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp2 HG03834.hp2 NA18906.hp1 NA18954.hp1 NA18974.hp2 NA18982.hp1 NA18986.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19077.hp2 NA20129.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0001	a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0014 others(71): Show a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0146 a0001c0001t0001g0153 a0001c0001t0001g0157 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0010 a0001c0001t0002g0016 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0033 a0001c0001t0002g0037 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0061 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0068 a0001c0001t0002g0076 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0112 a0001c0001t0002g0128 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0147 a0001c0001t0002g0152 a0001c0001t0002g0156 a0001c0001t0002g0158 a0001c0001t0003g0067 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0106 a0002c0002t0001g0085	74	158	0.4684	10	c.571 others(29): Show c.571-25950_571-25941dupGTTTTGTTTT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28115182	A A	AACACACA others(3): Show AACACACACAC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	158	0.0063	10	c.571 others(29): Show c.571-14055_571-14046dupCACACACACA	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28176569	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01243.hp1 HG01496.hp2 others(7): Show HG00140.hp2 HG01243.hp1 HG01496.hp2 HG02647.hp2 HG02735.hp2 HG02818.hp1 HG02976.hp1 HG03139.hp1 HG03516.hp1 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0001	a0001c0001t0001g0040 a0001c0001t0001g0052 a0001c0001t0001g0078 others(7): Show a0001c0001t0001g0040 a0001c0001t0001g0052 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0002g0010 a0001c0001t0002g0016 a0001c0001t0002g0112 a0001c0001t0002g0122 a0001c0001t0003g0018 a0002c0002t0001g0085	10	158	0.0633	10	c.680 others(29): Show c.680+47207_680+47216dupAAAAAAAAAA	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28183739	T T	TCACACAC others(3): Show TCACACACACA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02148.hp1 HG02572.hp1 others(5): Show HG00741.hp2 HG02148.hp1 HG02572.hp1 HG02818.hp2 HG03540.hp1 NA19030.hp2 NA20129.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0027 a0001c0001t0001g0074 a0001c0001t0001g0091 others(5): Show a0001c0001t0001g0027 a0001c0001t0001g0074 a0001c0001t0001g0091 a0001c0001t0001g0138 a0001c0001t0001g0143 a0001c0001t0001g0154 a0001c0001t0002g0048 a0001c0001t0002g0061	8	158	0.0506	10	c.681 others(29): Show c.681-53437_681-53428dupACACACACAC	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28183739	T T	TCTCACAC others(3): Show TCTCACACACA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0089 a0001c0001t0003g0089	1	158	0.0063	10	c.681 others(29): Show c.681-53462_681-53461insTCACACACAC	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28183739	T T	TCTCTCAC others(3): Show TCTCTCACACA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00741.hp1 HG01069.hp1 others(15): Show HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01081.hp1 HG01099.hp1 HG02027.hp1 HG02145.hp2 HG02258.hp1 HG02451.hp1 HG02622.hp1 HG02922.hp1 HG03041.hp1 HG03471.hp1 HG03688.hp2 NA18954.hp1 NA18982.hp1 NA18986.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0070 others(15): Show a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0002g0004 a0001c0001t0002g0033 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0068 a0001c0001t0002g0107 a0001c0001t0002g0147 a0001c0001t0002g0152 a0001c0001t0002g0156 a0001c0001t0002g0158 a0001c0001t0003g0106	18	158	0.1139	10	c.681 others(29): Show c.681-53462_681-53461insTCTCACACAC	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28184263	C C	CCTCTCTC others(3): Show CCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	158	0.0063	10	c.681 others(29): Show c.681-52925_681-52916dupTCTCTCTCTC	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28196836	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	158	0.0063	10	c.681 others(29): Show c.681-40348_681-40339dupTTTTTTTTTT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28248207	C C	CTTTTTCT others(3): Show CTTTTTCTTTT	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18964.hp1 NA19091.hp2 NA18955.hp1 NA18964.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0111 a0001c0001t0002g0098 a0001c0001t0002g0149 a0001c0001t0001g0111 a0001c0001t0002g0098 a0001c0001t0002g0149	3	158	0.0190	10	c.934 others(27): Show c.934+3350_934+3351insCTTTTTTTTT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28258615	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0137 a0001c0001t0003g0137	1	158	0.0063	10	c.934 others(29): Show c.934+13760_934+13769dupTTTTTTTTTT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28315421	T T	TTTTTCTT others(3): Show TTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00738.hp1 HG01168.hp1 others(15): Show HG00735.hp1 HG00738.hp1 HG01168.hp1 HG02040.hp1 HG02135.hp1 HG02145.hp2 HG02280.hp2 HG02451.hp1 HG02572.hp2 HG02723.hp2 HG02922.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03516.hp2 HG03834.hp2 NA18955.hp2 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0008 a0001c0001t0001g0031 a0001c0001t0001g0041 others(15): Show a0001c0001t0001g0008 a0001c0001t0001g0031 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0057 a0001c0001t0001g0065 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0120 a0001c0001t0001g0127 a0001c0001t0002g0004 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0107 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0003g0121	18	158	0.1139	10	c.108 others(31): Show c.1088+16986_1088+16995dupTTTTCTTTTC	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28335154	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	158	0.0063	10	c.108 others(29): Show c.1089-3278_1089-3269dupTTTTTTTTTT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BACE2_chr21_41163160_41287530	41174138	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03098.hp2 HG02965.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0017 a0001c0001t0005 a0001c0001t0017	a0001c0001t0005g0008 a0001c0001t0017g0146 a0001c0001t0005g0008 a0001c0001t0017g0146	2	272	0.0074	10	c.312 others(27): Show c.312+5563_312+5564insTTTTTTTTTT	BACE2	ENSG00000182240.16	transcript	ENST00000330333.11	protein_coding	1/8			chr21	TogoVar
BACE2_chr21_41163160_41287530	41207652	G G	GGCTGTCT others(3): Show GGCTGTCTTCA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02109.hp1 HG02257.hp1 others(15): Show HG00741.hp2 HG02109.hp1 HG02257.hp1 HG02559.hp1 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02818.hp1 HG02886.hp2 HG02896.hp1 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp2 HG03139.hp2 HG03195.hp2 HG03490.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(11): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0019 a0001c0001t0020 a0001c0001t0033 a0001c0001t0037 a0001c0001t0042 a0001c0002t0001	a0001c0001t0001g0165 a0001c0001t0004g0214 a0001c0001t0005g0008 others(15): Show a0001c0001t0001g0165 a0001c0001t0004g0214 a0001c0001t0005g0008 a0001c0001t0005g0147 a0001c0001t0007g0002 a0001c0001t0007g0075 a0001c0001t0007g0201 a0001c0001t0009g0229 a0001c0001t0011g0264 a0001c0001t0012g0137 a0001c0001t0012g0142 a0001c0001t0014g0003 a0001c0001t0019g0009 a0001c0001t0020g0150 a0001c0001t0033g0037 a0001c0001t0037g0163 a0001c0001t0042g0248 a0001c0002t0001g0249	18	272	0.0662	10	c.313 others(29): Show c.313-18613_313-18612insCTGTCTTCAG	BACE2	ENSG00000182240.16	transcript	ENST00000330333.11	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr21	TogoVar
BACH1_chr21_29293922_29351148	29306169	A A	AGTGTGTG others(3): Show AGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02965.hp2 NA18981.hp2 others(2): Show HG01358.hp2 HG02965.hp2 NA18981.hp2 NA18985.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0012 a0001c0001t0002 a0001c0001t0007 a0001c0001t0012	a0001c0001t0002g0228 a0001c0001t0007g0239 a0001c0001t0007g0240 others(2): Show a0001c0001t0002g0228 a0001c0001t0007g0239 a0001c0001t0007g0240 a0001c0001t0007g0241 a0001c0001t0012g0249	5	368	0.0136	10	c.-61 others(27): Show c.-61+7249_-61+7258dupGTGTGTGTGT	BACH1	ENSG00000156273.16	transcript	ENST00000286800.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
BACH1_chr21_29293922_29351148	29324556	T T	TTGTGTGT others(3): Show TTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0166 a0001c0001t0003g0166	1	368	0.0027	10	c.235 others(27): Show c.235-1467_235-1458dupGTGTGTGTGT	BACH1	ENSG00000156273.16	transcript	ENST00000286800.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
BACH2_chr6_89921528_90301843	89959097	G G	GCACACAC others(3): Show GCACACACACA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02056.hp2 HG01261.hp1 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0116 a0001c0005t0073 a0001c0001t0116 a0001c0005t0073	a0001c0001t0116g0137 a0001c0005t0073g0077 a0001c0001t0116g0137 a0001c0005t0073g0077	2	194	0.0103	10	c.244 others(27): Show c.244-7245_244-7236dupTGTGTGTGTG	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	6/8			chr6	TogoVar
BACH2_chr6_89921528_90301843	89959097	G G	GCGCACAC others(3): Show GCGCACACACA	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0010 a0001c0005t0010	a0001c0005t0010g0133 a0001c0005t0010g0133	1	194	0.0052	10	c.244 others(27): Show c.244-7236_244-7235insTGTGTGTGCG	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	6/8			chr6	TogoVar
BACH2_chr6_89921528_90301843	90011932	A A	ATGTGTGT others(3): Show ATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp2 HG01256.hp1 others(8): Show HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01975.hp1 HG01993.hp1 HG02027.hp1 HG02071.hp2 HG02080.hp1 HG02155.hp2 HG03710.hp2 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0002 a0001c0001t0008 a0001c0001t0102 others(7): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0102 a0001c0001t0123 a0001c0002t0103 a0001c0002t0121 a0001c0005t0006 a0001c0005t0010 a0001c0005t0100 a0001c0005t0101	a0001c0001t0002g0033 a0001c0001t0002g0076 a0001c0001t0008g0061 others(8): Show a0001c0001t0002g0033 a0001c0001t0002g0076 a0001c0001t0008g0061 a0001c0001t0102g0011 a0001c0001t0123g0185 a0001c0002t0103g0105 a0001c0002t0121g0121 a0001c0005t0006g0055 a0001c0005t0010g0138 a0001c0005t0100g0012 a0001c0005t0101g0039	11	194	0.0567	10	c.-12 others(27): Show c.-12-3086_-12-3077dupCACACACACA	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	5/8			chr6	TogoVar
BACH2_chr6_89921528_90301843	90011974	G G	GTGTGTGT others(3): Show GTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0060 a0001c0004t0060	a0001c0004t0060g0149 a0001c0004t0060g0149	1	194	0.0052	10	c.-12 others(27): Show c.-12-3119_-12-3118insTACACACACA	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	5/8			chr6	TogoVar

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