Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
AUTS2_chr7_69593475_70798506	69870448	A A	AATATATA others(17): Show AATATATATATATGTATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0045	1	76	0.0132	24	c.310 others(43): Show c.310-28826_310-28825insGTATATATATATATATATATATAT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70340163	A A	AACACACA others(17): Show AACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0069 a0001c0003t0008g0069	1	76	0.0132	24	c.661 others(43): Show c.661-95580_661-95557dupACACACACACACACACACACACAC	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70579244	T T	TAAAAAAA others(17): Show TAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01081.hp1 HG03579.hp2 others(1): Show HG00280.hp2 HG01081.hp1 HG03579.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0021	a0001c0001t0001g0036 a0001c0001t0003g0076 a0001c0001t0005g0028 others(1): Show a0001c0001t0001g0036 a0001c0001t0003g0076 a0001c0001t0005g0028 a0001c0001t0021g0060	4	76	0.0526	24	c.691 others(45): Show c.691-119307_691-119306insAAAAAAAAAAAAAAAAAAAAAAAA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVEN_chr15_33861227_34044204	33899460	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA19081.hp2 HG00544.hp1 NA19081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0163 a0002c0002t0001g0245 a0002c0002t0001g0163 a0002c0002t0001g0245	2	266	0.0075	24	c.446 others(43): Show c.446-23489_446-23466dupAAAAAAAAAAAAAAAAAAAAAAAA	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVEN_chr15_33861227_34044204	33933524	C C	CACACACA others(17): Show CACACACACACACACACAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0051 a0002c0002t0001g0051	1	266	0.0038	24	c.446 others(43): Show c.446-57530_446-57529insCTCTCTCTGTGTGTGTGTGTGTGT	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVEN_chr15_33861227_34044204	33933524	C C	CACACACA others(17): Show CACACACACACACACAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA18957.hp2 HG02486.hp1 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0181 a0001c0001t0002g0076 a0001c0001t0001g0181 a0001c0001t0002g0076	2	266	0.0075	24	c.446 others(43): Show c.446-57530_446-57529insCTCTCTCTCTGTGTGTGTGTGTGT	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVEN_chr15_33861227_34044204	33933524	C C	CACACACA others(17): Show CACACACACACACAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	266	0.0038	24	c.446 others(43): Show c.446-57530_446-57529insCTCTCTCTCTCTGTGTGTGTGTGT	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVIL_chr12_57792380_57823734	57818182	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	372	0.0027	24	c.-20 others(39): Show c.-20+423_-20+446dupAAAAAAAAAAAAAAAAAAAAAAAA	AVIL	ENSG00000135407.11	transcript	ENST00000549994.2	protein_coding	1/19			chr12	TogoVar
AVL9_chr7_32490489_32593726	32495327	C C	CCCTCCCC others(17): Show CCCTCCCCCCGCTCCTCCCCCCGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 HG03471.hp2 NA21309.hp1 HG01515.hp2 HG03471.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0003 a0001c0004 a0002c0003	a0001c0004t0021 a0001c0004t0031 a0002c0003t0086 a0001c0004t0021 a0001c0004t0031 a0002c0003t0086	a0001c0004t0021g0162 a0001c0004t0031g0167 a0002c0003t0086g0174 a0001c0004t0021g0162 a0001c0004t0031g0167 a0002c0003t0086g0174	3	330	0.0091	24	c.-38 others(33): Show c.-383_-382insCCTCCCCCCGCTCCTCCCCCCGCT	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding		161		chr7	TogoVar
AVL9_chr7_32490489_32593726	32503367	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01496.hp2 HG01952.hp1 others(6): Show HG00735.hp1 HG01496.hp2 HG01952.hp1 HG02129.hp1 HG02132.hp2 NA18970.hp1 NA18988.hp1 NA19087.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 others(5): Show a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0033 a0001c0001t0043 a0001c0001t0044 a0001c0001t0099	a0001c0001t0009g0294 a0001c0001t0010g0304 a0001c0001t0013g0262 others(6): Show a0001c0001t0009g0294 a0001c0001t0010g0304 a0001c0001t0013g0262 a0001c0001t0013g0327 a0001c0001t0014g0293 a0001c0001t0033g0269 a0001c0001t0043g0261 a0001c0001t0044g0240 a0001c0001t0099g0256	9	330	0.0273	24	c.93+ others(39): Show c.93+7566_93+7567insCACACACACACACACACACACACA	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVL9_chr7_32490489_32593726	32524590	T T	TAGATATA others(17): Show TAGATATAATTATATCTAAACTAGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp1 HG00733.hp2 others(58): Show HG00099.hp2 HG00423.hp1 HG00733.hp2 HG00735.hp1 HG01070.hp1 HG01074.hp1 HG01106.hp2 HG01192.hp1 HG01243.hp2 HG01258.hp2 HG01346.hp2 HG01433.hp1 HG01496.hp2 HG01517.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02080.hp1 HG02129.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp2 HG02273.hp1 HG02273.hp2 HG02523.hp2 HG02698.hp2 HG02738.hp1 HG02896.hp2 HG03831.hp1 HG04184.hp1 HG04199.hp2 NA18944.hp1 NA18945.hp2 NA18950.hp2 NA18952.hp2 NA18962.hp2 NA18963.hp2 NA18966.hp2 NA18970.hp1 NA18978.hp2 NA18980.hp2 NA18983.hp2 NA18988.hp1 NA18989.hp1 NA18992.hp1 NA19002.hp2 NA19010.hp2 NA19056.hp1 NA19057.hp2 NA19064.hp1 NA19068.hp2 NA19075.hp2 NA19077.hp2 NA19081.hp2 NA19082.hp1 NA19087.hp1 NA19089.hp1 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 others(28): Show a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0024 a0001c0001t0028 a0001c0001t0033 a0001c0001t0034 a0001c0001t0036 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0078 a0001c0001t0095 a0001c0001t0096 a0001c0001t0097 a0001c0001t0098 a0001c0001t0099 a0001c0001t0100 a0001c0001t0101 a0001c0001t0103 a0001c0001t0104 a0001c0001t0105 a0001c0001t0106 a0001c0001t0107 a0001c0001t0108 a0001c0001t0112 a0001c0001t0113 a0001c0001t0114	a0001c0001t0009g0244 a0001c0001t0009g0252 a0001c0001t0009g0266 others(58): Show a0001c0001t0009g0244 a0001c0001t0009g0252 a0001c0001t0009g0266 a0001c0001t0010g0250 a0001c0001t0010g0265 a0001c0001t0010g0268 a0001c0001t0010g0276 a0001c0001t0010g0289 a0001c0001t0010g0304 a0001c0001t0013g0258 a0001c0001t0013g0260 a0001c0001t0013g0262 a0001c0001t0013g0263 a0001c0001t0013g0282 a0001c0001t0013g0327 a0001c0001t0014g0249 a0001c0001t0014g0253 a0001c0001t0014g0259 a0001c0001t0014g0264 a0001c0001t0014g0293 a0001c0001t0024g0284 a0001c0001t0024g0287 a0001c0001t0024g0288 a0001c0001t0028g0111 a0001c0001t0028g0242 a0001c0001t0028g0267 a0001c0001t0033g0243 a0001c0001t0033g0257 a0001c0001t0033g0269 a0001c0001t0034g0274 a0001c0001t0034g0275 a0001c0001t0034g0292 a0001c0001t0036g0285 a0001c0001t0036g0286 a0001c0001t0043g0247 a0001c0001t0043g0261 a0001c0001t0044g0240 a0001c0001t0044g0270 a0001c0001t0045g0272 a0001c0001t0045g0281 a0001c0001t0046g0245 a0001c0001t0046g0255 a0001c0001t0047g0273 a0001c0001t0047g0277 a0001c0001t0078g0241 a0001c0001t0095g0239 a0001c0001t0096g0280 a0001c0001t0097g0271 a0001c0001t0098g0254 a0001c0001t0099g0256 a0001c0001t0100g0303 a0001c0001t0101g0309 a0001c0001t0103g0246 a0001c0001t0104g0251 a0001c0001t0105g0279 a0001c0001t0106g0291 a0001c0001t0107g0283 a0001c0001t0108g0290 a0001c0001t0112g0278 a0001c0001t0113g0248 a0001c0001t0114g0238	61	330	0.1849	24	c.94- others(41): Show c.94-18551_94-18550insAGATATAATTATATCTAAACTAGA	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	1/15			chr7	TogoVar
AVPI1_chr10_97672424_97692241	97678880	G G	GGTGTGTG others(17): Show GGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0146 a0002c0002t0002g0146	1	446	0.0022	24	c.287 others(39): Show c.287+715_287+738dupACACACACACACACACACACACAC	AVPI1	ENSG00000119986.7	transcript	ENST00000370626.4	protein_coding	2/2			chr10	TogoVar
AVPR1A_chr12_63137759_63156201	63138059	C C	CTCCCTCC others(17): Show CTCCCTCCTTCCTTCCTTCCTTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0009 a0002c0003t0009	a0002c0003t0009g0022 a0002c0003t0009g0022	1	448	0.0022	24	c.92 others(35): Show c.9299_*9300insAGGAAGGAAGGAAGGAAGGAGGGA	AVPR1A	ENSG00000166148.4	transcript	ENST00000299178.4	protein_coding		4699		chr12	TogoVar
AVPR1A_chr12_63137759_63156201	63153326	C C	CTATCTAT others(17): Show CTATCTATCTATCTATCTATCTATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0141 a0001c0001t0004g0141	1	448	0.0022	24	c.-24 others(35): Show c.-2491_-2490insAATAGATAGATAGATAGATAGATA	AVPR1A	ENSG00000166148.4	transcript	ENST00000299178.4	protein_coding		2126		chr12	TogoVar
AVPR1A_chr12_63137759_63156201	63153330	C C	CTATCTAT others(17): Show CTATCTATCTATCTATCTATCTATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0008 a0001c0001t0006g0008	1	448	0.0022	24	c.-24 others(35): Show c.-2495_-2494insAATAGATAGATAGATAGATAGATA	AVPR1A	ENSG00000166148.4	transcript	ENST00000299178.4	protein_coding		2130		chr12	TogoVar
AVPR1A_chr12_63137759_63156201	63153334	C C	CTATCTAT others(17): Show CTATCTATCTATCTATCTATCTATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG01358.hp2 HG02109.hp2 others(11): Show HG00323.hp2 HG01358.hp2 HG02109.hp2 HG02257.hp1 HG02486.hp1 HG02559.hp1 HG02622.hp1 HG02630.hp1 HG03098.hp1 HG03130.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0010 a0001c0001t0016 a0002c0003t0009 others(4): Show a0001c0001t0010 a0001c0001t0016 a0002c0003t0009 a0002c0003t0011 a0002c0003t0021 a0002c0003t0032 a0002c0003t0033	a0001c0001t0010g0014 a0001c0001t0016g0023 a0002c0003t0009g0022 others(4): Show a0001c0001t0010g0014 a0001c0001t0016g0023 a0002c0003t0009g0022 a0002c0003t0011g0039 a0002c0003t0021g0066 a0002c0003t0032g0063 a0002c0003t0033g0064	14	448	0.0313	24	c.-24 others(35): Show c.-2499_-2498insAATAGATAGATAGATAGATAGATA	AVPR1A	ENSG00000166148.4	transcript	ENST00000299178.4	protein_coding		2134		chr12	TogoVar
AXDND1_chr1_179360971_179559735	179375557	C C	CACATATA others(17): Show CACATATATGTACATACATATATGT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0184 a0003c0004t0001g0184	1	356	0.0028	24	c.375 others(41): Show c.375-3068_375-3045dupCATACATATATGTACATATATGTA	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	4/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AXDND1_chr1_179360971_179559735	179471757	G G	GTTTACTC others(17): Show GTTTACTCTACCTTTTCCATAGTCT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00741.hp1 HG01071.hp2 others(21): Show HG00735.hp1 HG00741.hp1 HG01071.hp2 HG01109.hp2 HG01175.hp1 HG01884.hp2 HG01978.hp2 HG02145.hp2 HG02486.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp2 HG02809.hp2 HG02818.hp2 HG02922.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 NA19030.hp2 NA19043.hp1 NA21309.hp2	a0003 a0007 a0008 others(4): Show a0003 a0007 a0008 a0009 a0011 a0020 a0022	a0003c0004 a0007c0009 a0008c0012 others(4): Show a0003c0004 a0007c0009 a0008c0012 a0009c0013 a0011c0016 a0020c0030 a0022c0034	a0003c0004t0001 a0007c0009t0001 a0008c0012t0001 others(4): Show a0003c0004t0001 a0007c0009t0001 a0008c0012t0001 a0009c0013t0001 a0011c0016t0001 a0020c0030t0001 a0022c0034t0001	a0003c0004t0001g0173 a0003c0004t0001g0177 a0003c0004t0001g0179 others(21): Show a0003c0004t0001g0173 a0003c0004t0001g0177 a0003c0004t0001g0179 a0003c0004t0001g0180 a0003c0004t0001g0181 a0003c0004t0001g0182 a0003c0004t0001g0184 a0007c0009t0001g0176 a0007c0009t0001g0191 a0007c0009t0001g0192 a0007c0009t0001g0193 a0007c0009t0001g0194 a0007c0009t0001g0195 a0007c0009t0001g0196 a0008c0012t0001g0168 a0008c0012t0001g0169 a0008c0012t0001g0170 a0008c0012t0001g0171 a0008c0012t0001g0172 a0009c0013t0001g0097 a0009c0013t0001g0098 a0011c0016t0001g0167 a0020c0030t0001g0178 a0022c0034t0001g0174	24	356	0.0674	24	c.199 others(43): Show c.1997+3118_1997+3141dupTTACTCTACCTTTTCCATAGTCTT	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	17/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AXDND1_chr1_179360971_179559735	179486139	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAAAAAAAAACT	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0100 a0001c0002t0001g0100	1	356	0.0028	24	c.209 others(43): Show c.2091+2920_2091+2921insAAAAAAAAAAAAAAAAAAAACTAA	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	18/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AXDND1_chr1_179360971_179559735	179488632	C C	CTTTTCTT others(17): Show CTTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0215 a0001c0003t0001g0215	1	356	0.0028	24	c.209 others(43): Show c.2092-2905_2092-2904insTTTCTTTCTTTCTTTCTTTCTTTT	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	18/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AXIN1_chr16_282440_357723	285909	C C	CCCAACCC others(17): Show CCCAACCCCAACCCCAACCCCAACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02886.hp1 HG03579.hp1 HG02055.hp1 HG02886.hp1 HG03579.hp1	a0001 a0010 a0001 a0010	a0001c0004 a0001c0009 a0010c0025 a0001c0004 a0001c0009 a0010c0025	a0001c0004t0023 a0001c0009t0014 a0010c0025t0033 a0001c0004t0023 a0001c0009t0014 a0010c0025t0033	a0001c0004t0023g0080 a0001c0009t0014g0054 a0010c0025t0033g0063 a0001c0004t0023g0080 a0001c0009t0014g0054 a0010c0025t0033g0063	3	378	0.0079	24	c.22 others(35): Show c.2212_*2213insTGTTGGGGTTGGGGTTGGGGTTGG	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding		1530		chr16	TogoVar
AXIN1_chr16_282440_357723	285966	T T	TCCCAACC others(17): Show TCCCAACCCCAACCCCAACCCCAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG03516.hp1 HG02615.hp2 HG03516.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0022 a0001c0003t0012 a0001c0003t0022	a0001c0003t0012g0219 a0001c0003t0022g0216 a0001c0003t0012g0219 a0001c0003t0022g0216	2	378	0.0053	24	c.21 others(35): Show c.2155_*2156insGTTGGGGTTGGGGTTGGGGTTGGG	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding		1473		chr16	TogoVar
AXIN1_chr16_282440_357723	286023	T T	TCCCAACC others(17): Show TCCCAACCCCGCGGTTCTCCCAACC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0338 a0001c0001t0001g0338	1	378	0.0027	24	c.20 others(35): Show c.2098_*2099insGGTTGGGAGAACCGCGGGGTTGGG	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding		1416		chr16	TogoVar
AXIN1_chr16_282440_357723	326394	T T	TATATATA others(17): Show TATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA18906.hp1 HG01884.hp1 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0045 a0001c0003t0003 a0001c0003t0045	a0001c0003t0003g0046 a0001c0003t0045g0050 a0001c0003t0003g0046 a0001c0003t0045g0050	2	378	0.0053	24	c.879 others(43): Show c.879-11712_879-11711insGTGTGTATATATATATATATATAT	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding	2/10			chr16	TogoVar
AZIN1_chr8_102821308_102869163	102863386	G G	GGGGCTGC others(17): Show GGGGCTGCGGGACCCCGGCCCCTCA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0228 a0001c0001t0002g0228	1	380	0.0026	24	c.-23 others(41): Show c.-234+397_-234+420dupTGAGGGGCCGGGGTCCCGCAGCCC	AZIN1	ENSG00000155096.15	transcript	ENST00000337198.10	protein_coding	1/11			chr8	TogoVar
AZU1_chr19_822837_837018	836282	C C	CAACGGAG others(17): Show CAACGGAGGGGACAGAGAGAGACAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	391	0.0026	24	c.44 others(35): Show c.4405_*4406insAACGGAGGGGACAGAGAGAGACAA	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		4265		chr19	TogoVar
B3GALT1_chr2_167288001_167879045	167521985	T T	TATATATA others(17): Show TATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0116 a0001c0001t0007g0116	1	118	0.0085	24	c.-41 others(45): Show c.-410+31720_-410+31743dupTATATATATACACATATATATATA	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167547700	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0004 a0001c0001t0025g0004	1	118	0.0085	24	c.-41 others(45): Show c.-410+57436_-410+57437insAAAAAAAAAAGAAAAAAAAAAAAA	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GALT5_chr21_39607940_39678137	39639347	T T	TTTCTTTC others(17): Show TTTCTTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0319 a0002c0002t0004g0319	1	336	0.0030	24	c.-39 others(43): Show c.-391-7042_-391-7041insTTTCCTTCCTTCCTTCCTTCCTTC	B3GALT5	ENSG00000183778.19	transcript	ENST00000684187.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
B3GALT5_chr21_39607940_39678137	39639400	T T	TTCTTTCT others(17): Show TTCTTTCTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0170 a0001c0001t0033g0170	1	336	0.0030	24	c.-39 others(43): Show c.-391-6991_-391-6990insCTTTCTCTTTCTTTCTTTCTTTCT	B3GALT5	ENSG00000183778.19	transcript	ENST00000684187.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
B3GAT2_chr6_70851679_70962060	70855050	T T	TCATATAC others(17): Show TCATATACATATACATATACATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00735.hp2 HG01255.hp2 others(20): Show HG00408.hp1 HG00735.hp2 HG01255.hp2 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG01952.hp1 HG02132.hp2 HG02523.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03130.hp2 HG03471.hp1 HG04184.hp1 NA18964.hp1 NA18965.hp2 NA18967.hp2 NA18975.hp2 NA19000.hp2 NA19006.hp2 NA19030.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0050 a0001c0001t0066 a0001c0001t0107 a0001c0002t0005 a0001c0002t0006 a0001c0002t0008 a0001c0002t0011 a0001c0002t0015 a0001c0002t0021 a0001c0002t0038 a0001c0002t0079	a0001c0001t0001g0160 a0001c0001t0002g0072 a0001c0001t0002g0144 others(20): Show a0001c0001t0001g0160 a0001c0001t0002g0072 a0001c0001t0002g0144 a0001c0001t0002g0151 a0001c0001t0003g0081 a0001c0001t0003g0133 a0001c0001t0003g0147 a0001c0001t0004g0112 a0001c0001t0004g0137 a0001c0001t0012g0020 a0001c0001t0050g0016 a0001c0001t0066g0139 a0001c0001t0107g0312 a0001c0002t0005g0199 a0001c0002t0006g0191 a0001c0002t0008g0002 a0001c0002t0008g0221 a0001c0002t0011g0262 a0001c0002t0011g0272 a0001c0002t0015g0286 a0001c0002t0021g0183 a0001c0002t0038g0178 a0001c0002t0079g0202	23	316	0.0728	24	c.65 others(35): Show c.6589_*6612dupTATATGTATATGTATATGTATATG	B3GAT2	ENSG00000112309.11	transcript	ENST00000230053.11	protein_coding		1628		chr6	TogoVar
B3GAT2_chr6_70851679_70962060	70902637	T T	TATATATA others(17): Show TATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0299 a0001c0002t0022g0299	1	316	0.0032	24	c.592 others(41): Show c.592-8366_592-8365insGTATATATATATATATATATATAT	B3GAT2	ENSG00000112309.11	transcript	ENST00000230053.11	protein_coding	1/3			chr6	TogoVar
B3GLCT_chr13_31194975_31337276	31196186	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0029 a0002c0002t0002g0029	1	268	0.0037	24	c.-38 others(35): Show c.-3899_-3898insATATATATATATATATATATATAT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3788		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(17): Show ATATATATATATATATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0087 a0002c0002t0002g0087	1	268	0.0037	24	c.-38 others(35): Show c.-3878_-3877insTATATATATATATATATATATATT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(17): Show ATATATATATATATATATATATTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0120 a0001c0001t0004g0120	1	268	0.0037	24	c.-38 others(35): Show c.-3878_-3877insTATATATATATATATATATATTTT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(17): Show ATATATATATATATATATATTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0195 a0002c0002t0002g0196 a0002c0002t0002g0195 a0002c0002t0002g0196	2	268	0.0075	24	c.-38 others(35): Show c.-3878_-3877insTATATATATATATATATATTTTTT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(17): Show ATATATATATATATTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0088 a0002c0002t0003g0088	1	268	0.0037	24	c.-38 others(35): Show c.-3878_-3877insTATATATATATATTTTTTTTTTTT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(17): Show ATATATATATATTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0099 a0001c0001t0005g0099	1	268	0.0037	24	c.-38 others(35): Show c.-3878_-3877insTATATATATATTTTTTTTTTTTTT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(17): Show ATATATATATTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0131 a0002c0002t0002g0131	1	268	0.0037	24	c.-38 others(35): Show c.-3878_-3877insTATATATATTTTTTTTTTTTTTTT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(17): Show ATATATATTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0104 a0001c0001t0005g0104	1	268	0.0037	24	c.-38 others(35): Show c.-3878_-3877insTATATATTTTTTTTTTTTTTTTTT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31316407	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01074.hp1 HG02074.hp1 others(9): Show HG00621.hp2 HG01074.hp1 HG02074.hp1 HG02074.hp2 HG02148.hp1 HG02165.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp2 HG02735.hp2 HG02897.hp2 HG03139.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0005 a0001c0001 a0002c0002 a0004c0005	a0001c0001t0001 a0001c0001t0005 a0001c0001t0015 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0015 a0002c0002t0011 a0004c0005t0001	a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0108 others(9): Show a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0108 a0001c0001t0001g0153 a0001c0001t0001g0187 a0001c0001t0001g0217 a0001c0001t0001g0232 a0001c0001t0005g0199 a0001c0001t0005g0201 a0001c0001t0015g0105 a0002c0002t0011g0005 a0004c0005t0001g0072	12	268	0.0448	24	c.106 others(43): Show c.1065-1158_1065-1135dupTATATATATATATATATATATATA	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr13	TogoVar
B3GNT3_chr19_17790138_17818576	17807111	A A	AGTGTGTG others(17): Show AGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG03669.hp1 HG03831.hp2 others(1): Show HG01123.hp2 HG03669.hp1 HG03831.hp2 HG06807.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0003 a0001c0001t0005 a0003c0004t0011 a0001c0001t0003 a0001c0001t0005 a0003c0004t0011	a0001c0001t0003g0149 a0001c0001t0005g0256 a0001c0001t0005g0290 others(1): Show a0001c0001t0003g0149 a0001c0001t0005g0256 a0001c0001t0005g0290 a0003c0004t0011g0098	4	406	0.0099	24	c.-50 others(39): Show c.-50-636_-50-613dupGTGTGTGTGTGTGTGTGTGTGTGT	B3GNT3	ENSG00000179913.11	transcript	ENST00000318683.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr19	TogoVar
B3GNT5_chr3_183248253_183278385	183269230	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG03453.hp2 HG03834.hp1 others(2): Show HG02897.hp2 HG03453.hp2 HG03834.hp1 NA19006.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0121 a0001c0001t0001g0178 others(1): Show a0001c0001t0001g0026 a0001c0001t0001g0121 a0001c0001t0001g0178 a0001c0001t0001g0214	5	390	0.0128	24	c.-30 others(41): Show c.-301-250_-301-249insTTTTTTTTTTTTTTTTTTTTTTTT	B3GNT5	ENSG00000176597.12	transcript	ENST00000326505.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
B3GNT6_chr11_77029398_77046973	77032668	T T	TATATATA others(17): Show TATATATATACACATACATACATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0004 a0002c0003t0004g0004	1	442	0.0023	24	c.-18 others(35): Show c.-1811_-1810insATATATATACACATACATACATAC	B3GNT6	ENSG00000198488.10	transcript	ENST00000622824.1	protein_coding		1729		chr11	TogoVar
B3GNTL1_chr17_82937149_83056770	82940221	G G	GCACACAC others(17): Show GCACACACACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0243 a0001c0001t0004g0243	1	266	0.0038	24	c.38 others(35): Show c.3829_*3852dupTGTGTGTGTGTGTGTGTGTGTGTG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding		1927		chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82946569	A A	AGTGTGTG others(17): Show AGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG03130.hp2 NA18951.hp1 HG00423.hp1 HG03130.hp2 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0011 a0001c0002t0002 a0001c0003t0004 a0001c0001t0011 a0001c0002t0002 a0001c0003t0004	a0001c0001t0011g0067 a0001c0002t0002g0130 a0001c0003t0004g0189 a0001c0001t0011g0067 a0001c0002t0002g0130 a0001c0003t0004g0189	3	266	0.0113	24	c.24 others(39): Show c.24+309_*24+310insACACACACACACACACACACACAC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	12/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82958866	T T	TGTGTGTG others(17): Show TGTGTGTGTACACTGGGGGTGTATG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0003 a0003	a0003c0030 a0003c0030	a0003c0030t0011 a0003c0030t0011	a0003c0030t0011g0140 a0003c0030t0011g0140	1	266	0.0038	24	c.681 others(41): Show c.681-1373_681-1372insCATACACCCCCAGTGTACACACAC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	8/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82970514	T T	TCCTCCGC others(17): Show TCCTCCGCACCCAGTGTGGACACGA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0133 a0001c0001t0002g0133	1	266	0.0038	24	c.460 others(41): Show c.460-4769_460-4768insTCGTGTCCACACTGGGTGCGGAGG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82970514	T T	TCCTCCGC others(17): Show TCCTCCGCACCCAGTGTGGACATGA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00639.hp2 HG01243.hp1 others(16): Show HG00597.hp1 HG00639.hp2 HG01243.hp1 HG01891.hp1 HG02559.hp2 HG02896.hp1 HG03041.hp1 HG03209.hp2 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18943.hp1 NA18963.hp1 NA18973.hp2 NA19240.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0014 a0002c0005 a0002c0022 a0005c0026	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(12): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0014 a0001c0001t0037 a0001c0002t0001 a0001c0002t0010 a0001c0003t0020 a0001c0003t0034 a0001c0014t0001 a0002c0005t0003 a0002c0005t0007 a0002c0022t0003 a0005c0026t0006	a0001c0001t0001g0186 a0001c0001t0004g0247 a0001c0001t0004g0257 others(16): Show a0001c0001t0001g0186 a0001c0001t0004g0247 a0001c0001t0004g0257 a0001c0001t0004g0258 a0001c0001t0005g0256 a0001c0001t0006g0182 a0001c0001t0014g0248 a0001c0001t0037g0259 a0001c0002t0001g0089 a0001c0002t0001g0114 a0001c0002t0010g0126 a0001c0003t0020g0188 a0001c0003t0020g0200 a0001c0003t0034g0197 a0001c0014t0001g0012 a0002c0005t0003g0055 a0002c0005t0007g0261 a0002c0022t0003g0029 a0005c0026t0006g0176	19	266	0.0714	24	c.460 others(41): Show c.460-4769_460-4768insTCATGTCCACACTGGGTGCGGAGG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82970520	C C	CCACCCAG others(17): Show CCACCCAGCGTGGACATGACCTCCG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG01074.hp2 others(22): Show HG00408.hp1 HG00438.hp1 HG01074.hp2 HG01081.hp2 HG01109.hp1 HG01168.hp2 HG01361.hp1 HG01515.hp1 HG01943.hp1 HG01978.hp1 HG02015.hp2 HG02027.hp2 HG02132.hp2 HG02155.hp1 HG02165.hp2 HG02698.hp1 HG03492.hp1 HG04115.hp2 NA18965.hp2 NA18973.hp1 NA19000.hp2 NA19007.hp1 NA19043.hp1 NA20300.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0016 others(3): Show a0001c0001 a0001c0002 a0001c0016 a0002c0005 a0002c0009 a0002c0010	a0001c0001t0002 a0001c0001t0006 a0001c0001t0032 others(7): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0032 a0001c0002t0002 a0001c0016t0001 a0002c0005t0003 a0002c0005t0007 a0002c0009t0003 a0002c0009t0013 a0002c0010t0007	a0001c0001t0002g0058 a0001c0001t0006g0164 a0001c0001t0032g0162 others(21): Show a0001c0001t0002g0058 a0001c0001t0006g0164 a0001c0001t0032g0162 a0001c0002t0002g0086 a0001c0002t0002g0095 a0001c0016t0001g0008 a0001c0016t0001g0009 a0002c0005t0003g0056 a0002c0005t0003g0057 a0002c0005t0003g0155 a0002c0005t0003g0161 a0002c0005t0003g0175 a0002c0005t0007g0005 a0002c0005t0007g0236 a0002c0009t0003g0090 a0002c0009t0003g0096 a0002c0009t0003g0103 a0002c0009t0013g0087 a0002c0010t0007g0205 a0002c0010t0007g0206 a0002c0010t0007g0207 a0002c0010t0007g0216 a0002c0010t0007g0222 a0002c0010t0007g0224	25	266	0.0940	24	c.460 others(41): Show c.460-4775_460-4774insCGGAGGTCATGTCCACGCTGGGTG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar

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