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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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
ATP9B_chr18_79064394_79383283	79357540	TGTGTGAG others(25): Show TGTGTGAGGGGTGTCCTGGGTCTGGAGGTGTCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00323.hp1 others(71): Show HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00544.hp2 HG00609.hp1 HG00639.hp1 HG00673.hp1 HG00733.hp2 HG00741.hp1 HG01069.hp2 HG01109.hp2 HG01168.hp1 HG01346.hp2 HG01361.hp2 HG01517.hp1 HG01952.hp2 HG01975.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02071.hp2 HG02129.hp2 HG02135.hp2 HG02155.hp1 HG02630.hp2 HG02698.hp1 HG02735.hp1 HG02809.hp2 HG02922.hp2 HG03239.hp2 HG03492.hp2 HG03654.hp2 HG03669.hp2 HG03710.hp1 HG03834.hp2 HG04115.hp1 HG04184.hp1 HG04204.hp2 NA18612.hp1 NA18747.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp2 NA18946.hp2 NA18948.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp2 NA18955.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18971.hp2 NA18977.hp1 NA18980.hp2 NA18984.hp1 NA18990.hp1 NA18998.hp2 NA19001.hp2 NA19004.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19054.hp2 NA19056.hp1 NA19070.hp2 NA19074.hp2 NA19077.hp1 NA19080.hp1 NA19085.hp1 NA19088.hp1 NA19090.hp2	a0001 a0002 a0007 others(4): Show a0001 a0002 a0007 a0009 a0011 a0012 a0017	a0001c0001 a0001c0003 a0001c0004 others(8): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0002c0005 a0002c0033 a0007c0031 a0009c0034 a0011c0035 a0012c0018 a0017c0019	a0001c0001t0002 a0001c0003t0002 a0001c0004t0002 others(8): Show a0001c0001t0002 a0001c0003t0002 a0001c0004t0002 a0002c0002t0002 a0002c0005t0002 a0002c0033t0002 a0007c0031t0002 a0009c0034t0002 a0011c0035t0002 a0012c0018t0002 a0017c0019t0002	a0001c0001t0002g0079 a0001c0003t0002g0135 a0001c0003t0002g0149 others(71): Show a0001c0001t0002g0079 a0001c0003t0002g0135 a0001c0003t0002g0149 a0001c0004t0002g0095 a0001c0004t0002g0096 a0001c0004t0002g0097 a0001c0004t0002g0109 a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0002t0002g0180 a0002c0002t0002g0181 a0002c0002t0002g0182 a0002c0002t0002g0183 a0002c0002t0002g0185 a0002c0002t0002g0188 a0002c0002t0002g0189 a0002c0002t0002g0191 a0002c0002t0002g0192 a0002c0002t0002g0196 a0002c0002t0002g0199 a0002c0002t0002g0205 a0002c0002t0002g0206 a0002c0002t0002g0210 a0002c0002t0002g0213 a0002c0002t0002g0215 a0002c0002t0002g0216 a0002c0002t0002g0217 a0002c0002t0002g0218 a0002c0002t0002g0219 a0002c0002t0002g0223 a0002c0002t0002g0224 a0002c0002t0002g0225 a0002c0002t0002g0226 a0002c0002t0002g0227 a0002c0002t0002g0229 a0002c0002t0002g0230 a0002c0002t0002g0231 a0002c0002t0002g0232 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0002g0236 a0002c0002t0002g0237 a0002c0002t0002g0238 a0002c0002t0002g0239 a0002c0002t0002g0240 a0002c0002t0002g0241 a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0247 a0002c0002t0002g0248 a0002c0002t0002g0249 a0002c0002t0002g0250 a0002c0002t0002g0252 a0002c0002t0002g0256 a0002c0002t0002g0257 a0002c0002t0002g0259 a0002c0002t0002g0260 a0002c0002t0002g0261 a0002c0002t0002g0262 a0002c0002t0002g0263 a0002c0002t0002g0264 a0002c0005t0002g0207 a0002c0005t0002g0208 a0002c0005t0002g0209 a0002c0005t0002g0211 a0002c0033t0002g0214 a0007c0031t0002g0251 a0009c0034t0002g0186 a0011c0035t0002g0201 a0012c0018t0002g0114 a0017c0019t0002g0076	74	298	0.2483	-32	c.290 others(51): Show c.2904-1804_2904-1773delGTGTCCTGGGTCTGGAGGTGTCCGTG TGAGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79357584	CCTGTGTG others(25): Show CCTGTGTGAGGGATGCTCTGGGTCTGGAGGTGT	C C	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0176 a0002c0002t0002g0176	1	298	0.0034	-32	c.290 others(51): Show c.2904-1758_2904-1727delATGCTCTGGGTCTGGAGGTGTCTGTG TGAGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79358144	CCTATGTG others(25): Show CCTATGTGAGGGATGCTCTGGGTCTGGAGGTGT	C C	intron_variant intron_variant	MODIFIER	HG01261.hp2 NA18612.hp2 NA18949.hp1 others(6): Show HG01261.hp2 NA18612.hp2 NA18949.hp1 NA18952.hp2 NA18977.hp2 NA18990.hp2 NA19011.hp1 NA19070.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0043 a0001c0001t0001g0045 others(6): Show a0001c0001t0001g0004 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0054 a0001c0001t0001g0081 a0001c0001t0001g0087 a0001c0001t0001g0088	9	298	0.0302	-32	c.290 others(51): Show c.2904-1207_2904-1176delATGTGAGGGATGCTCTGGGTCTGGAG GTGTCT	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79358238	TCTGGGTC others(25): Show TCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGCC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00639.hp2 others(64): Show HG00280.hp1 HG00408.hp2 HG00639.hp2 HG01106.hp1 HG01106.hp2 HG01168.hp2 HG01169.hp2 HG01261.hp1 HG01496.hp1 HG01884.hp1 HG01934.hp1 HG01952.hp1 HG01981.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02129.hp1 HG02132.hp1 HG02258.hp1 HG02258.hp2 HG02451.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02698.hp2 HG02738.hp1 HG02818.hp2 HG02897.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03516.hp1 HG03579.hp1 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG06807.hp1 NA18940.hp1 NA18946.hp1 NA18950.hp2 NA18952.hp1 NA18955.hp2 NA18962.hp2 NA18971.hp1 NA18979.hp2 NA18982.hp2 NA18994.hp1 NA19002.hp2 NA19007.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19056.hp2 NA19074.hp1 NA19079.hp1 NA19085.hp2 NA19086.hp1 NA21309.hp1	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0015 a0016	a0001c0003 a0001c0004 a0001c0006 others(7): Show a0001c0003 a0001c0004 a0001c0006 a0001c0013 a0001c0024 a0001c0037 a0002c0002 a0006c0012 a0015c0027 a0016c0028	a0001c0003t0003 a0001c0003t0011 a0001c0003t0013 others(15): Show a0001c0003t0003 a0001c0003t0011 a0001c0003t0013 a0001c0004t0001 a0001c0004t0003 a0001c0004t0004 a0001c0006t0003 a0001c0006t0004 a0001c0013t0004 a0001c0024t0004 a0001c0037t0003 a0002c0002t0003 a0002c0002t0004 a0002c0002t0009 a0002c0002t0014 a0006c0012t0003 a0015c0027t0003 a0016c0028t0012	a0001c0003t0003g0112 a0001c0003t0003g0115 a0001c0003t0003g0121 others(64): Show a0001c0003t0003g0112 a0001c0003t0003g0115 a0001c0003t0003g0121 a0001c0003t0003g0122 a0001c0003t0003g0123 a0001c0003t0003g0124 a0001c0003t0003g0125 a0001c0003t0003g0126 a0001c0003t0003g0127 a0001c0003t0003g0128 a0001c0003t0003g0129 a0001c0003t0003g0131 a0001c0003t0003g0133 a0001c0003t0003g0138 a0001c0003t0003g0142 a0001c0003t0003g0143 a0001c0003t0003g0145 a0001c0003t0003g0146 a0001c0003t0003g0147 a0001c0003t0003g0150 a0001c0003t0003g0151 a0001c0003t0003g0152 a0001c0003t0003g0153 a0001c0003t0011g0134 a0001c0003t0013g0148 a0001c0004t0001g0016 a0001c0004t0003g0034 a0001c0004t0003g0041 a0001c0004t0003g0056 a0001c0004t0003g0060 a0001c0004t0003g0061 a0001c0004t0003g0073 a0001c0004t0003g0092 a0001c0004t0003g0094 a0001c0004t0003g0098 a0001c0004t0003g0101 a0001c0004t0003g0102 a0001c0004t0003g0103 a0001c0004t0003g0110 a0001c0004t0003g0113 a0001c0004t0003g0120 a0001c0004t0004g0117 a0001c0004t0004g0119 a0001c0006t0003g0267 a0001c0006t0003g0268 a0001c0006t0003g0281 a0001c0006t0004g0273 a0001c0006t0004g0291 a0001c0006t0004g0292 a0001c0006t0004g0293 a0001c0006t0004g0294 a0001c0013t0004g0108 a0001c0013t0004g0111 a0001c0024t0004g0058 a0001c0037t0003g0104 a0002c0002t0003g0198 a0002c0002t0003g0204 a0002c0002t0004g0253 a0002c0002t0004g0258 a0002c0002t0009g0177 a0002c0002t0009g0255 a0002c0002t0014g0187 a0006c0012t0003g0203 a0006c0012t0003g0221 a0006c0012t0003g0222 a0015c0027t0003g0139 a0016c0028t0012g0144	67	298	0.2248	-32	c.290 others(51): Show c.2904-1098_2904-1067delTGTGTGAGGGGTGCCCTGGGTCTGGA GGTGTC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79358378	CCTGTGTG others(25): Show CCTGTGTGAGGGGTGCCCTGGGTCTGGAGGTGT	C C	intron_variant intron_variant	MODIFIER	HG01346.hp1 NA18961.hp2 NA18992.hp1 HG01346.hp1 NA18961.hp2 NA18992.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0015 a0002c0005 a0001c0001 a0001c0015 a0002c0005	a0001c0001t0001 a0001c0015t0001 a0002c0005t0001 a0001c0001t0001 a0001c0015t0001 a0002c0005t0001	a0001c0001t0001g0086 a0001c0015t0001g0132 a0002c0005t0001g0178 a0001c0001t0001g0086 a0001c0015t0001g0132 a0002c0005t0001g0178	3	298	0.0101	-32	c.290 others(49): Show c.2904-960_2904-929delCCTGGGTCTGGAGGTGTCTGTGTGAGGG GTGC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATRX_chrX_77499880_77791216	77626028	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01081.hp1 HG02683.hp2 others(7): Show HG00140.hp1 HG01081.hp1 HG02683.hp2 HG02735.hp1 HG03492.hp1 HG03688.hp1 HG03927.hp2 NA19011.hp1 NA19083.hp1 NA20805.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0001 a0002c0002t0003	a0002c0002t0001g0017 a0002c0002t0001g0024 a0002c0002t0001g0033 others(7): Show a0002c0002t0001g0017 a0002c0002t0001g0024 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0036 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0003g0019 a0002c0002t0003g0021	10	218	0.0459	-32	c.513 others(51): Show c.5135-5528_5135-5497delATATATATATATATATATATATATAT ATATAT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	19/34			chrX	TogoVar
ATXN10_chr22_45666834_45850307	45736460	AAACACCT others(25): Show AAACACCTTACAGATAAGGGCCACCTTATCTGT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03139.hp2 HG03453.hp1 others(1): Show HG01891.hp2 HG03139.hp2 HG03453.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0005g0292 others(1): Show a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0005g0292 a0001c0001t0005g0293	4	316	0.0127	-32	c.895 others(49): Show c.895-2250_895-2219delCACCTTATCTGTAACACCTTACAGATAA GGGC	ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN1_chr6_16294112_16766460	16549880	GAGCGAAA others(25): Show GAGCGAAACTCTGTCTCAAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0012 a0012	a0012c0011 a0012c0011	a0012c0011t0004 a0012c0011t0004	a0012c0011t0004g0161 a0012c0011t0004g0161	1	182	0.0055	-32	c.-36 others(53): Show c.-360-27224_-360-27193delTTTTTTTTTTTTTTTTGAGACAGA GTTTCGCT	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	4/7			chr6	TogoVar
ATXN2_chr12_111447214_111604315	111483188	AACACATA others(25): Show AACACATACACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0086 a0003c0004t0005g0086	1	298	0.0034	-32	c.252 others(51): Show c.2524+2045_2524+2076delGTGTGTGTGTGTGTGTGTGTGTGTGT ATGTGT	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	18/24			chr12	TogoVar
ATXN7L1_chr7_105599772_105881599	105662019	TTTCTTTC others(25): Show TTTCTTTCTTTCCTTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0192 a0001c0001t0060g0192	1	252	0.0040	-32	c.578 others(49): Show c.578+3015_578+3046delGGAAGGAAGGAAGGAAGGAAGGAAAGAA AGAA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	4/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105716665	GCACACAC others(25): Show GCACACACACACACACACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG03098.hp2 HG00738.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0040 a0001c0001t0010 a0001c0001t0040	a0001c0001t0010g0111 a0001c0001t0040g0207 a0001c0001t0010g0111 a0001c0001t0040g0207	2	252	0.0079	-32	c.356 others(51): Show c.356-51409_356-51378delTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTG	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
AVPI1_chr10_97672424_97692241	97678880	GGTGTGTG others(25): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02735.hp2 NA19067.hp2 HG00673.hp2 HG02735.hp2 NA19067.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0023 a0002c0002t0002g0160 a0002c0002t0002g0023 a0002c0002t0002g0160	3	446	0.0067	-32	c.287 others(47): Show c.287+707_287+738delACACACACACACACACACACACACACACAC AC	AVPI1	ENSG00000119986.7	transcript	ENST00000370626.4	protein_coding	2/2			chr10	TogoVar
AVPR1A_chr12_63137759_63156201	63138039	CTCCCTCC others(25): Show CTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 NA19080.hp2 HG02135.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0005	2	448	0.0045	-32	c.92 others(43): Show c.9288_*9319delAGGAAGGAAGGAGGGAGGGAGGGAGGGAGGGA	AVPR1A	ENSG00000166148.4	transcript	ENST00000299178.4	protein_coding		4719		chr12	TogoVar
AXDND1_chr1_179360971_179559735	179421035	CCCTTCCT others(25): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0104 a0001c0002t0001g0104	1	356	0.0028	-32	c.123 others(51): Show c.1231-8454_1231-8423delCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTT	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	12/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
B3GALT5_chr21_39607940_39678137	39623217	CCCTCCCT others(25): Show CCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02145.hp2 HG02630.hp1 others(9): Show HG01175.hp2 HG02145.hp2 HG02630.hp1 HG03490.hp2 HG03492.hp1 HG03669.hp1 HG03710.hp1 HG03834.hp2 NA18951.hp2 NA18955.hp1 NA18974.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0014 a0001c0001t0017 a0001c0001t0028 a0001c0001t0053 a0002c0002t0034	a0001c0001t0001g0019 a0001c0001t0001g0107 a0001c0001t0002g0018 others(9): Show a0001c0001t0001g0019 a0001c0001t0001g0107 a0001c0001t0002g0018 a0001c0001t0005g0122 a0001c0001t0005g0125 a0001c0001t0014g0123 a0001c0001t0014g0124 a0001c0001t0017g0046 a0001c0001t0028g0029 a0001c0001t0053g0121 a0002c0002t0034g0024 a0002c0002t0034g0025	12	336	0.0357	-32	c.-39 others(53): Show c.-392+10154_-392+10185delCCCTCCCTCCCTCCCTCCCTCCCT TCCTTCCT	B3GALT5	ENSG00000183778.19	transcript	ENST00000684187.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
B3GAT1_chr11_134373508_134417242	134403979	TTCTTTAT others(25): Show TTCTTTATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0247 a0001c0001t0047g0247	1	352	0.0028	-32	c.-28 others(51): Show c.-282+7796_-282+7827delTATATATATATATATATATATATATA TAAAGA	B3GAT1	ENSG00000109956.13	transcript	ENST00000312527.9	protein_coding	1/5			chr11	TogoVar
B3GAT1_chr11_134373508_134417242	134403983	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0329 a0001c0001t0005g0329	1	352	0.0028	-32	c.-28 others(51): Show c.-282+7792_-282+7823delTATATATATATATATATATATATATA TATATA	B3GAT1	ENSG00000109956.13	transcript	ENST00000312527.9	protein_coding	1/5			chr11	TogoVar
B3GNT6_chr11_77029398_77046973	77032676	TATACACA others(25): Show TATACACATACATACATACATATATATATATAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02055.hp1 HG02922.hp2 others(3): Show HG01884.hp1 HG02055.hp1 HG02922.hp2 HG02965.hp2 NA18522.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0007 a0001c0001t0029 a0001c0001t0036 others(1): Show a0001c0001t0007 a0001c0001t0029 a0001c0001t0036 a0002c0003t0024	a0001c0001t0007g0008 a0001c0001t0007g0041 a0001c0001t0007g0051 others(3): Show a0001c0001t0007g0008 a0001c0001t0007g0041 a0001c0001t0007g0051 a0001c0001t0029g0008 a0001c0001t0036g0008 a0002c0003t0024g0050	6	442	0.0136	-32	c.-18 others(43): Show c.-1802_-1771delATACACATACATACATACATATATATATATAC	B3GNT6	ENSG00000198488.10	transcript	ENST00000622824.1	protein_coding		1721		chr11	TogoVar
B3GNTL1_chr17_82937149_83056770	82958830	GGTGTGTG others(25): Show GGTGTGTGTGTGTGTACACTGGGGGTGTATGGT	G G	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA18966.hp2 NA19062.hp2 others(1): Show HG02027.hp1 NA18966.hp2 NA19062.hp2 NA19070.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0008 a0001c0002 a0001c0004 a0001c0008	a0001c0002t0008 a0001c0004t0001 a0001c0008t0005 a0001c0002t0008 a0001c0004t0001 a0001c0008t0005	a0001c0002t0008g0069 a0001c0004t0001g0032 a0001c0004t0001g0039 others(1): Show a0001c0002t0008g0069 a0001c0004t0001g0032 a0001c0004t0001g0039 a0001c0008t0005g0191	4	266	0.0150	-32	c.681 others(49): Show c.681-1368_681-1337delACCATACACCCCCAGTGTACACACACAC ACAC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	8/12			chr17	TogoVar
B4GALNT3_chr12_454939_568509	499483	CCTAGCCC others(25): Show CCTAGCCCGTGGAGCCCGTGCTCTCACTATCTA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01167.hp2 HG02809.hp2 others(2): Show HG01109.hp1 HG01167.hp2 HG02809.hp2 HG02976.hp1 NA18954.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0001c0042 a0013c0021 a0001c0001 a0001c0042 a0013c0021	a0001c0001t0013 a0001c0001t0031 a0001c0001t0091 others(2): Show a0001c0001t0013 a0001c0001t0031 a0001c0001t0091 a0001c0042t0002 a0013c0021t0002	a0001c0001t0013g0391 a0001c0001t0031g0314 a0001c0001t0091g0232 others(2): Show a0001c0001t0013g0391 a0001c0001t0031g0314 a0001c0001t0091g0232 a0001c0042t0002g0203 a0013c0021t0002g0254	5	394	0.0127	-32	c.170 others(51): Show c.170-35650_170-35619delCTAGCCCGTGGAGCCCGTGCTCTCAC TATCTA	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT3_chr12_454939_568509	499635	CCTAGCCC others(25): Show CCTAGCCCGTGGAGCCCGTGCTCTCACTATCTA	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00741.hp1 HG01106.hp2 others(85): Show HG00738.hp2 HG00741.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp2 HG01243.hp2 HG01346.hp1 HG01358.hp2 HG01496.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01952.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02027.hp1 HG02056.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02148.hp1 HG02273.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02602.hp2 HG02622.hp2 HG02630.hp1 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03130.hp2 HG03654.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp1 HG06807.hp1 NA18906.hp1 NA18941.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18959.hp2 NA18967.hp2 NA18975.hp1 NA18981.hp2 NA18984.hp1 NA18988.hp1 NA18990.hp1 NA18993.hp2 NA18999.hp2 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19010.hp2 NA19011.hp2 NA19054.hp1 NA19058.hp2 NA19077.hp2 NA19079.hp1 NA19081.hp2 NA19083.hp2 NA19084.hp1 NA19087.hp1 NA19090.hp2 NA20300.hp2 NA20752.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0013 a0015 a0017 a0019 a0020	a0001c0001 a0001c0002 a0001c0010 others(20): Show a0001c0001 a0001c0002 a0001c0010 a0001c0013 a0001c0039 a0001c0041 a0001c0042 a0001c0044 a0001c0048 a0002c0003 a0003c0004 a0004c0005 a0005c0006 a0005c0017 a0006c0007 a0006c0023 a0006c0045 a0007c0008 a0013c0021 a0015c0031 a0017c0033 a0019c0037 a0020c0038	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(68): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0031 a0001c0001t0052 a0001c0001t0054 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0091 a0001c0001t0096 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0081 a0001c0002t0089 a0001c0002t0094 a0001c0010t0002 a0001c0013t0002 a0001c0039t0002 a0001c0041t0012 a0001c0042t0002 a0001c0044t0001 a0001c0048t0044 a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 a0002c0003t0018 a0002c0003t0040 a0002c0003t0041 a0002c0003t0090 a0003c0004t0001 a0003c0004t0004 a0003c0004t0029 a0004c0005t0003 a0004c0005t0004 a0004c0005t0017 a0004c0005t0034 a0004c0005t0043 a0004c0005t0051 a0005c0006t0001 a0005c0006t0007 a0005c0006t0008 a0005c0017t0002 a0006c0007t0001 a0006c0007t0049 a0006c0023t0002 a0006c0045t0003 a0007c0008t0007 a0007c0008t0027 a0013c0021t0001 a0013c0021t0002 a0015c0031t0004 a0017c0033t0001 a0019c0037t0002 a0020c0038t0031	a0001c0001t0001g0014 a0001c0001t0001g0116 a0001c0001t0001g0223 others(85): Show a0001c0001t0001g0014 a0001c0001t0001g0116 a0001c0001t0001g0223 a0001c0001t0001g0257 a0001c0001t0001g0261 a0001c0001t0001g0393 a0001c0001t0002g0024 a0001c0001t0002g0029 a0001c0001t0003g0318 a0001c0001t0004g0176 a0001c0001t0004g0214 a0001c0001t0004g0236 a0001c0001t0005g0225 a0001c0001t0007g0017 a0001c0001t0007g0025 a0001c0001t0007g0030 a0001c0001t0007g0289 a0001c0001t0009g0026 a0001c0001t0009g0028 a0001c0001t0011g0218 a0001c0001t0012g0260 a0001c0001t0013g0391 a0001c0001t0014g0255 a0001c0001t0015g0224 a0001c0001t0020g0212 a0001c0001t0022g0204 a0001c0001t0023g0253 a0001c0001t0024g0055 a0001c0001t0025g0023 a0001c0001t0026g0273 a0001c0001t0031g0314 a0001c0001t0052g0240 a0001c0001t0054g0019 a0001c0001t0057g0252 a0001c0001t0058g0121 a0001c0001t0059g0109 a0001c0001t0091g0232 a0001c0001t0096g0003 a0001c0002t0001g0266 a0001c0002t0002g0027 a0001c0002t0005g0320 a0001c0002t0081g0279 a0001c0002t0089g0032 a0001c0002t0094g0141 a0001c0010t0002g0018 a0001c0010t0002g0256 a0001c0013t0002g0177 a0001c0039t0002g0319 a0001c0041t0012g0317 a0001c0042t0002g0203 a0001c0044t0001g0383 a0001c0048t0044g0394 a0002c0003t0001g0249 a0002c0003t0001g0335 a0002c0003t0002g0215 a0002c0003t0004g0250 a0002c0003t0018g0251 a0002c0003t0040g0149 a0002c0003t0041g0221 a0002c0003t0090g0143 a0003c0004t0001g0217 a0003c0004t0004g0390 a0003c0004t0029g0300 a0004c0005t0003g0122 a0004c0005t0003g0124 a0004c0005t0004g0281 a0004c0005t0017g0196 a0004c0005t0034g0371 a0004c0005t0043g0219 a0004c0005t0051g0123 a0005c0006t0001g0304 a0005c0006t0007g0146 a0005c0006t0008g0216 a0005c0017t0002g0259 a0006c0007t0001g0140 a0006c0007t0049g0226 a0006c0023t0002g0230 a0006c0045t0003g0392 a0007c0008t0007g0187 a0007c0008t0027g0142 a0007c0008t0027g0144 a0007c0008t0027g0145 a0013c0021t0001g0031 a0013c0021t0002g0254 a0015c0031t0004g0066 a0017c0033t0001g0001 a0019c0037t0002g0227 a0020c0038t0031g0200	88	394	0.2234	-32	c.170 others(51): Show c.170-35498_170-35467delCTAGCCCGTGGAGCCCGTGCTCTCAC TATCTA	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT3_chr12_454939_568509	545870	AGAGGAGT others(25): Show AGAGGAGTGGGGAGGTGCGAGGAGTGGGGAGGT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01884.hp2 HG02055.hp2 others(26): Show HG00323.hp1 HG01884.hp2 HG02055.hp2 HG02109.hp2 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02683.hp1 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02970.hp1 HG03195.hp1 HG03516.hp1 NA18906.hp1 NA18945.hp1 NA18975.hp1 NA18982.hp1 NA18988.hp1 NA18988.hp2 NA19054.hp2 NA19067.hp2 NA19077.hp1 NA19088.hp2	a0001 a0002 a0006 others(5): Show a0001 a0002 a0006 a0007 a0008 a0020 a0023 a0025	a0001c0001 a0001c0002 a0002c0003 others(6): Show a0001c0001 a0001c0002 a0002c0003 a0006c0007 a0007c0008 a0008c0014 a0020c0038 a0023c0046 a0025c0029	a0001c0001t0002 a0001c0001t0012 a0001c0001t0015 others(20): Show a0001c0001t0002 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0021 a0001c0001t0022 a0001c0001t0057 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0075 a0002c0003t0050 a0002c0003t0090 a0006c0007t0079 a0007c0008t0007 a0007c0008t0017 a0007c0008t0027 a0007c0008t0037 a0007c0008t0068 a0008c0014t0010 a0020c0038t0031 a0023c0046t0013 a0025c0029t0003	a0001c0001t0002g0294 a0001c0001t0012g0260 a0001c0001t0015g0360 others(26): Show a0001c0001t0002g0294 a0001c0001t0012g0260 a0001c0001t0015g0360 a0001c0001t0015g0365 a0001c0001t0015g0377 a0001c0001t0016g0179 a0001c0001t0021g0013 a0001c0001t0022g0036 a0001c0001t0022g0037 a0001c0001t0057g0252 a0001c0002t0001g0316 a0001c0002t0002g0064 a0001c0002t0005g0237 a0001c0002t0075g0191 a0002c0003t0050g0278 a0002c0003t0090g0143 a0006c0007t0079g0231 a0007c0008t0007g0187 a0007c0008t0007g0287 a0007c0008t0017g0147 a0007c0008t0027g0142 a0007c0008t0027g0144 a0007c0008t0027g0145 a0007c0008t0037g0114 a0007c0008t0068g0308 a0008c0014t0010g0340 a0020c0038t0031g0200 a0023c0046t0013g0245 a0025c0029t0003g0370	29	394	0.0736	-32	c.639 others(47): Show c.639+437_639+468delGAGTGGGGAGGTGCGAGGAGTGGGGAGGTG AG	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	6/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
BABAM2_chr2_27885729_28343901	28026865	TATATATA others(25): Show TATATATATTTATATATATATAGATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02922.hp1 HG02970.hp2 others(1): Show HG00738.hp1 HG02922.hp1 HG02970.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 others(1): Show a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039	4	158	0.0253	-32	c.495 others(49): Show c.495+1454_495+1485delTTATATATATATAGATATATATAAATAT ATAT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28112135	TTCTTTCT others(25): Show TTCTTTCTTTCTTTACCTCCCTCCCTCCCTCCC	T T	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	158	0.0063	-32	c.571 others(51): Show c.571-17133_571-17102delTTTCTTTCTTTACCTCCCTCCCTCCC TCCCTC	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BAG4_chr8_38171855_38218301	38201854	ATATATAT others(25): Show ATATATATATATATATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0094 a0001c0001t0002g0094	1	306	0.0033	-32	c.379 others(49): Show c.379-5656_379-5625delATATATATATATATATATATATATATTT TTTT	BAG4	ENSG00000156735.11	transcript	ENST00000287322.5	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
BAG4_chr8_38171855_38218301	38201856	ATATATAT others(25): Show ATATATATATATATATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	1	306	0.0033	-32	c.379 others(49): Show c.379-5654_379-5623delATATATATATATATATATATATATTTTT TTTT	BAG4	ENSG00000156735.11	transcript	ENST00000287322.5	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
BAG4_chr8_38171855_38218301	38201858	ATATATAT others(25): Show ATATATATATATATATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA20905.hp1 NA19067.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0074 a0001c0001t0002g0091 a0001c0001t0002g0074 a0001c0001t0002g0091	2	306	0.0065	-32	c.379 others(49): Show c.379-5652_379-5621delATATATATATATATATATATATTTTTTT TTTT	BAG4	ENSG00000156735.11	transcript	ENST00000287322.5	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
BAG4_chr8_38171855_38218301	38201860	ATATATAT others(25): Show ATATATATATATATATATATATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0071 a0001c0001t0009g0071	1	306	0.0033	-32	c.379 others(49): Show c.379-5650_379-5619delATATATATATATATATATATTTTTTTTT TTTT	BAG4	ENSG00000156735.11	transcript	ENST00000287322.5	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
BAHCC1_chr17_81390457_81471331	81467525	CACGGCCC others(25): Show CACGGCCCCACCTTCATGACAGGCAGATGGGAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0026 a0026	a0026c0083 a0026c0083	a0026c0083t0001 a0026c0083t0001	a0026c0083t0001g0099 a0026c0083t0001g0099	1	332	0.0030	-32	c.37 others(43): Show c.3709_*3740delACGGCCCCACCTTCATGACAGGCAGATGGGAG	BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding		1195		chr17	TogoVar
BAIAP2L1_chr7_98286650_98406090	98405340	GCTTGCTT others(25): Show GCTTGCTTTCTTTCTTTCTTTCTTTCTTTCTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp1 NA19056.hp1 NA19070.hp1 others(1): Show NA18951.hp1 NA19056.hp1 NA19070.hp1 NA19082.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0003 a0001c0002t0001 a0001c0003t0003	a0001c0002t0001g0143 a0001c0002t0001g0192 a0001c0003t0003g0287 others(1): Show a0001c0002t0001g0143 a0001c0002t0001g0192 a0001c0003t0003g0287 a0001c0003t0003g0289	4	298	0.0134	-32	c.-45 others(43): Show c.-4520_-4489delAAAGAAAGAAAGAAAGAAAGAAAGAAAGCAAG	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding		4251		chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98405344	GCTTTCTT others(25): Show GCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00323.hp1 others(40): Show HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00597.hp1 HG00597.hp2 HG00735.hp2 HG01069.hp2 HG01099.hp1 HG01192.hp1 HG01256.hp2 HG01346.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01891.hp2 HG01952.hp2 HG02015.hp2 HG02027.hp2 HG02074.hp2 HG02148.hp2 HG02165.hp1 HG02572.hp2 HG02723.hp2 HG02818.hp1 HG03139.hp1 HG03195.hp2 HG03490.hp2 HG03492.hp2 HG03834.hp2 HG04184.hp1 HG04199.hp2 HG04228.hp1 NA18747.hp2 NA18941.hp1 NA18952.hp1 NA18953.hp2 NA18960.hp2 NA18985.hp1 NA18998.hp1 NA19064.hp1 NA19085.hp2 NA19087.hp1	a0001 a0008 a0001 a0008	a0001c0003 a0001c0004 a0001c0007 others(1): Show a0001c0003 a0001c0004 a0001c0007 a0008c0015	a0001c0003t0003 a0001c0003t0011 a0001c0003t0020 others(5): Show a0001c0003t0003 a0001c0003t0011 a0001c0003t0020 a0001c0004t0003 a0001c0004t0010 a0001c0004t0018 a0001c0007t0003 a0008c0015t0003	a0001c0003t0003g0230 a0001c0003t0003g0237 a0001c0003t0003g0239 others(39): Show a0001c0003t0003g0230 a0001c0003t0003g0237 a0001c0003t0003g0239 a0001c0003t0003g0254 a0001c0003t0003g0255 a0001c0003t0003g0257 a0001c0003t0003g0260 a0001c0003t0003g0262 a0001c0003t0003g0264 a0001c0003t0003g0266 a0001c0003t0003g0272 a0001c0003t0003g0277 a0001c0003t0003g0279 a0001c0003t0003g0280 a0001c0003t0003g0281 a0001c0003t0003g0283 a0001c0003t0003g0284 a0001c0003t0003g0285 a0001c0003t0003g0288 a0001c0003t0003g0291 a0001c0003t0003g0292 a0001c0003t0011g0235 a0001c0003t0011g0253 a0001c0003t0020g0297 a0001c0004t0003g0232 a0001c0004t0003g0238 a0001c0004t0003g0251 a0001c0004t0003g0258 a0001c0004t0003g0263 a0001c0004t0003g0265 a0001c0004t0003g0267 a0001c0004t0003g0268 a0001c0004t0003g0269 a0001c0004t0003g0270 a0001c0004t0003g0271 a0001c0004t0003g0274 a0001c0004t0003g0275 a0001c0004t0010g0001 a0001c0004t0018g0236 a0001c0007t0003g0234 a0001c0007t0003g0252 a0008c0015t0003g0278	43	298	0.1443	-32	c.-45 others(43): Show c.-4524_-4493delAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding		4255		chr7	TogoVar
BAIAP2_chr17_81030151_81122434	81056794	CTTCTGCT others(25): Show CTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01071.hp1 HG01361.hp2 others(3): Show HG00099.hp2 HG01071.hp1 HG01361.hp2 HG01516.hp2 HG02486.hp1 HG03041.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0005 a0001c0001t0019 others(2): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0019 a0001c0001t0047 a0002c0002t0002	a0001c0001t0003g0323 a0001c0001t0005g0125 a0001c0001t0005g0324 others(3): Show a0001c0001t0003g0323 a0001c0001t0005g0125 a0001c0001t0005g0324 a0001c0001t0019g0342 a0001c0001t0047g0374 a0002c0002t0002g0126	6	376	0.0160	-32	c.131 others(47): Show c.131-970_131-939delGCTGTTGCGTTTTTCTGCTGTTGCGTTTTT CT	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
BARD1_chr2_214720646_214814683	214751101	GTGTGTGT others(25): Show GTGTGTGTGTGTGTGTGTATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0020 a0020	a0020c0025 a0020c0025	a0020c0025t0071 a0020c0025t0071	a0020c0025t0071g0338 a0020c0025t0071g0338	1	362	0.0028	-32	c.167 others(51): Show c.1677+1314_1677+1345delTATATATATATATATACACACACACA CACACA	BARD1	ENSG00000138376.11	transcript	ENST00000260947.9	protein_coding	7/10			chr2	TogoVar
BARD1_chr2_214720646_214814683	214751103	GTGTGTGT others(25): Show GTGTGTGTGTGTGTGTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03225.hp2 HG02280.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0013 a0001c0004t0009 a0001c0002t0013 a0001c0004t0009	a0001c0002t0013g0322 a0001c0004t0009g0113 a0001c0002t0013g0322 a0001c0004t0009g0113	2	362	0.0055	-32	c.167 others(51): Show c.1677+1312_1677+1343delTATATATATATATATATACACACACA CACACA	BARD1	ENSG00000138376.11	transcript	ENST00000260947.9	protein_coding	7/10			chr2	TogoVar
BARHL2_chr1_90706539_90722302	90709320	GAGGGAGG others(25): Show GAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01167.hp2 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0018 a0001c0001t0001g0004 a0001c0001t0001g0018	2	446	0.0045	-32	c.29 others(43): Show c.2960_*2991delTCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCT	BARHL2	ENSG00000143032.8	transcript	ENST00000370445.5	protein_coding		2218		chr1	TogoVar
BARX2_chr11_129370848_129457279	129373446	CGGGTCCC others(25): Show CGGGTCCCGCGCTTTGACCGCGGACCAGCCTCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0296 a0001c0002t0008g0296	1	400	0.0025	-32	c.-25 others(43): Show c.-2589_-2558delGGGTCCCGCGCTTTGACCGCGGACCAGCCTCA	BARX2	ENSG00000043039.7	transcript	ENST00000281437.6	protein_coding		2401		chr11	TogoVar
BAZ2B_chr2_159313979_159621548	159324625	TACACACA others(25): Show TACACACACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02630.hp2 HG02896.hp2 others(2): Show HG02109.hp2 HG02630.hp2 HG02896.hp2 HG03098.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0048 a0002c0002t0001g0050 a0002c0002t0001g0051 others(2): Show a0002c0002t0001g0048 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0092 a0002c0002t0002g0140	5	216	0.0232	-32	c.635 others(49): Show c.6353+154_6353+185delGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	36/36			chr2	TogoVar
BBOF1_chr14_74014349_74071092	74018227	TGTTCCCT others(25): Show TGTTCCCTCAGAAGAAACAGAAATTCAGAAACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0130 a0004c0004t0004g0130	1	386	0.0026	-32	c.-12 others(43): Show c.-1251_-1220delGTTCCCTCAGAAGAAACAGAAATTCAGAAACA	BBOF1	ENSG00000119636.16	transcript	ENST00000394009.5	protein_coding		1121		chr14	TogoVar
BBS9_chr7_33124564_33611069	33294338	TATCTATC others(25): Show TATCTATCTATCTATCTCTTTGTCCATCCATCC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01891.hp1 HG02723.hp2 others(2): Show HG01243.hp1 HG01891.hp1 HG02723.hp2 HG02809.hp2 HG03540.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0006c0005 a0002c0002 a0006c0005	a0002c0002t0001 a0002c0002t0002 a0006c0005t0001 a0002c0002t0001 a0002c0002t0002 a0006c0005t0001	a0002c0002t0001g0189 a0002c0002t0001g0196 a0002c0002t0002g0123 others(2): Show a0002c0002t0001g0189 a0002c0002t0001g0196 a0002c0002t0002g0123 a0006c0005t0001g0140 a0006c0005t0001g0180	5	268	0.0187	-32	c.101 others(53): Show c.1016+20386_1016+20417delTATCTATCTATCTCTTTGTCCATC CATCCATC	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33459447	CAAACAAG others(25): Show CAAACAAGTATCCAGCCCAAAATGTCCACAGGG	C C	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03209.hp1 HG02818.hp2 HG03209.hp1	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0236 a0005c0011t0001g0238 a0005c0011t0001g0236 a0005c0011t0001g0238	2	268	0.0075	-32	c.211 others(53): Show c.2116-46015_2116-45984delAAACAAGTATCCAGCCCAAAATGT CCACAGGG	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	19/22			chr7	TogoVar
BBS9_chr7_33124564_33611069	33565781	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0259 a0001c0001t0002g0259	1	268	0.0037	-32	c.252 others(53): Show c.2521+31620_2521+31651delTATATATATATATATATATATATA TATATATA	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAS3_chr17_60672851_61397831	60754712	CACACACA others(25): Show CACACACACACACACACACACACACACACAGAG	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0002 a0003c0001t0001g0002	1	74	0.0135	-32	c.403 others(49): Show c.403+7434_403+7465delACACACACACACACACACACACACACAC AGAG	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	6/23			chr17	TogoVar
BCL11B_chr14_99164287_99277197	99199673	TGTGTGTG others(25): Show TGTGTGTGTGTGCGCGCGCGCGCGCACGTGCAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00741.hp2 HG01952.hp1 others(5): Show HG00099.hp1 HG00741.hp2 HG01952.hp1 HG02027.hp2 HG02056.hp1 HG04204.hp1 NA19009.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0011 a0001c0001t0040 others(4): Show a0001c0001t0006 a0001c0001t0011 a0001c0001t0040 a0001c0001t0084 a0001c0001t0085 a0001c0002t0004 a0001c0002t0028	a0001c0001t0006g0326 a0001c0001t0006g0338 a0001c0001t0011g0298 others(5): Show a0001c0001t0006g0326 a0001c0001t0006g0338 a0001c0001t0011g0298 a0001c0001t0040g0134 a0001c0001t0084g0308 a0001c0001t0085g0340 a0001c0002t0004g0132 a0001c0002t0028g0293	8	350	0.0229	-32	c.641 others(51): Show c.641-23510_641-23479delGTGCACGTGCGCGCGCGCGCGCACAC ACACAC	BCL11B	ENSG00000127152.18	transcript	ENST00000357195.8	protein_coding	3/3			chr14	TogoVar
BCL11B_chr14_99164287_99277197	99229011	GATGGATG others(25): Show GATGGATGGATGGATGGATGGATGGATGGATGC	G G	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0079 a0001c0002t0079	a0001c0002t0079g0292 a0001c0002t0079g0292	1	350	0.0029	-32	c.640 others(49): Show c.640+2302_640+2333delGCATCCATCCATCCATCCATCCATCCAT CCAT	BCL11B	ENSG00000127152.18	transcript	ENST00000357195.8	protein_coding	3/3			chr14	TogoVar
BCL2L13_chr22_17633757_17735855	17715148	ATATATAT others(25): Show ATATATATATATATATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0237 a0001c0001t0022g0237	1	306	0.0033	-32	c.601 others(51): Show c.601-11527_601-11496delATATATATATATATATATATATTTTT TTTTTT	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL7A_chr12_122016884_122067044	122034190	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01257.hp1 HG01258.hp2 others(15): Show HG01243.hp1 HG01257.hp1 HG01258.hp2 HG01884.hp2 HG01891.hp1 HG02280.hp1 HG02630.hp2 HG02647.hp2 HG02723.hp2 HG02896.hp2 HG02922.hp2 HG02976.hp2 HG03098.hp1 HG03486.hp2 HG06807.hp1 NA18522.hp2 NA18993.hp2 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 a0001c0001t0017 a0001c0001t0040 a0001c0001t0041 a0001c0001t0060 a0001c0001t0066 a0001c0001t0078 a0001c0001t0083 a0001c0002t0008 a0001c0002t0023 a0001c0002t0075 a0001c0004t0001	a0001c0001t0001g0354 a0001c0001t0001g0356 a0001c0001t0002g0344 others(15): Show a0001c0001t0001g0354 a0001c0001t0001g0356 a0001c0001t0002g0344 a0001c0001t0016g0341 a0001c0001t0017g0031 a0001c0001t0040g0355 a0001c0001t0041g0342 a0001c0001t0060g0340 a0001c0001t0066g0338 a0001c0001t0078g0339 a0001c0001t0083g0343 a0001c0002t0008g0350 a0001c0002t0008g0351 a0001c0002t0008g0353 a0001c0002t0023g0352 a0001c0002t0023g0358 a0001c0002t0075g0357 a0001c0004t0001g0056	18	362	0.0497	-32	c.175 others(49): Show c.175-1118_175-1087delATATATATATATATATATATATATATAT ATAT	BCL7A	ENSG00000110987.9	transcript	ENST00000261822.5	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
BCL9_chr1_147536501_147631216	147541070	TGAGAGAG others(25): Show TGAGAGAGAGAGAGAAGAGAGAGAGAGAGAAGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG01192.hp1 HG00597.hp2 HG01192.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0004 a0005c0008t0001 a0001c0001t0004 a0005c0008t0001	a0001c0001t0004g0133 a0005c0008t0001g0038 a0001c0001t0004g0133 a0005c0008t0001g0038	2	316	0.0063	-32	c.-10 others(43): Show c.-1081_-1050delGAGAGAGAGAGAGAAGAGAGAGAGAGAGAAGA	BCL9	ENSG00000116128.12	transcript	ENST00000234739.8	protein_coding		430		chr1	TogoVar
BCLAF3_chrX_19907860_19996061	19995634	AAAGAAAG others(25): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18984.hp1 NA19056.hp1 NA18984.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0162 a0001c0001t0001g0148 a0001c0001t0001g0162	2	207	0.0097	-32	c.-47 others(43): Show c.-4793_-4762delCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	BCLAF3	ENSG00000173681.17	transcript	ENST00000379682.9	protein_coding		4574		chrX	TogoVar
BCO1_chr16_81233689_81296142	81261902	CGGCTGAT others(25): Show CGGCTGATTTTTTGTATTTTTTAGTACAGACGG	C C	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0166 a0001c0002t0001g0166	1	402	0.0025	-32	c.324 others(47): Show c.324-231_324-200delCTGATTTTTTGTATTTTTTAGTACAGACGG GG	BCO1	ENSG00000135697.10	transcript	ENST00000258168.7	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
BECN2_chr1_241952767_241964062	241957039	CTGTGTGT others(25): Show CTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00438.hp2 others(85): Show HG00140.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00741.hp2 HG01081.hp1 HG01169.hp2 HG01256.hp1 HG01258.hp2 HG01516.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02165.hp1 HG02559.hp2 HG02615.hp2 HG02809.hp1 HG02965.hp2 HG03130.hp1 HG03491.hp1 HG03654.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG06807.hp2 NA18747.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp2 NA18946.hp1 NA18950.hp1 NA18953.hp1 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18984.hp1 NA18992.hp1 NA18993.hp2 NA19004.hp2 NA19007.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19055.hp2 NA19062.hp2 NA19063.hp1 NA19070.hp2 NA19079.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19086.hp1 NA19086.hp2 NA19089.hp2	a0001 a0006 a0007 a0001 a0006 a0007	a0001c0001 a0001c0006 a0001c0011 others(2): Show a0001c0001 a0001c0006 a0001c0011 a0006c0009 a0007c0010	a0001c0001t0000 a0001c0006t0000 a0001c0011t0000 others(2): Show a0001c0001t0000 a0001c0006t0000 a0001c0011t0000 a0006c0009t0000 a0007c0010t0000	a0001c0001t0000g0000 a0001c0006t0000g0000 a0001c0011t0000g0000 others(2): Show a0001c0001t0000g0000 a0001c0006t0000g0000 a0001c0011t0000g0000 a0006c0009t0000g0000 a0007c0010t0000g0000	88	444	0.1982	-32	c.-72 others(41): Show c.-727_-696delTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTG	BECN2	ENSG00000196289.7	transcript	ENST00000419583.2	protein_coding		727		chr1	TogoVar

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