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
ATXN1_chr6_16294112_16766460	16606867	T T	TTGTGTGT others(21): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00597.hp1 others(19): Show HG00408.hp1 HG00438.hp2 HG00597.hp1 HG01074.hp2 HG01081.hp2 HG01109.hp1 HG01169.hp2 HG01346.hp2 HG02132.hp1 HG02300.hp2 HG02451.hp2 HG02622.hp2 HG03225.hp1 HG03492.hp2 NA18906.hp2 NA18952.hp1 NA18957.hp1 NA18973.hp2 NA18986.hp1 NA18993.hp1 NA19030.hp1 NA19062.hp2	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0010 a0015 a0017 a0021 a0022 a0023 a0026 a0031	a0001c0029 a0002c0002 a0002c0004 others(11): Show a0001c0029 a0002c0002 a0002c0004 a0003c0003 a0004c0005 a0005c0006 a0010c0010 a0015c0030 a0017c0040 a0021c0021 a0022c0019 a0023c0035 a0026c0061 a0031c0048	a0001c0029t0048 a0002c0002t0002 a0002c0002t0008 others(15): Show a0001c0029t0048 a0002c0002t0002 a0002c0002t0008 a0002c0002t0043 a0002c0004t0001 a0003c0003t0001 a0003c0003t0022 a0004c0005t0002 a0005c0006t0006 a0010c0010t0006 a0015c0030t0004 a0017c0040t0007 a0021c0021t0004 a0021c0021t0014 a0022c0019t0001 a0023c0035t0001 a0026c0061t0036 a0031c0048t0042	a0001c0029t0048g0031 a0002c0002t0002g0090 a0002c0002t0008g0116 others(19): Show a0001c0029t0048g0031 a0002c0002t0002g0090 a0002c0002t0008g0116 a0002c0002t0043g0175 a0002c0004t0001g0084 a0002c0004t0001g0093 a0002c0004t0001g0174 a0003c0003t0001g0109 a0003c0003t0022g0119 a0004c0005t0002g0072 a0004c0005t0002g0096 a0004c0005t0002g0167 a0005c0006t0006g0010 a0010c0010t0006g0112 a0015c0030t0004g0032 a0017c0040t0007g0022 a0021c0021t0004g0069 a0021c0021t0014g0082 a0022c0019t0001g0025 a0023c0035t0001g0064 a0026c0061t0036g0095 a0031c0048t0042g0026	22	182	0.1209	28	c.-48 others(49): Show c.-488-20961_-488-20960insCACACACACACACACACACACACA CACA	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	3/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16730487	G G	GTGTATAT others(21): Show GTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG04184.hp2 HG01257.hp1 HG04184.hp2	a0002 a0014 a0002 a0014	a0002c0004 a0014c0017 a0002c0004 a0014c0017	a0002c0004t0017 a0014c0017t0004 a0002c0004t0017 a0014c0017t0004	a0002c0004t0017g0179 a0014c0017t0004g0171 a0002c0004t0017g0179 a0014c0017t0004g0171	2	182	0.0110	28	c.-61 others(49): Show c.-615+22745_-615+22746insTATATATATATATATATATATATA TACA	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	2/7			chr6	TogoVar
ATXN2_chr12_111447214_111604315	111592782	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA18941.hp2 HG03041.hp1 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0241 a0001c0001t0002g0282 a0001c0001t0002g0241 a0001c0001t0002g0282	2	298	0.0067	28	c.251 others(45): Show c.251+6001_251+6002insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/24			chr12	TogoVar
ATXN7L1_chr7_105599772_105881599	105692407	T T	TTCCTTCC others(21): Show TTCCTTCCTTCCTTCCTTCCTTCCCTCCC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	252	0.0040	28	c.356 others(47): Show c.356-27120_356-27119insGGGAGGGAAGGAAGGAAGGAAGGAAG GA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105692420	T T	TCCCTCCC others(21): Show TCCCTCCCTCCCTCCTTCCTTCCTTCCTC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0251 a0001c0001t0013g0251	1	252	0.0040	28	c.356 others(47): Show c.356-27133_356-27132insGAGGAAGGAAGGAAGGAGGGAGGGAG GG	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105692424	T T	TCCCTCCC others(21): Show TCCCTCCCTCCCTCCTTCCTTCCTTCCTC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01255.hp2 HG02735.hp1 others(3): Show HG01099.hp2 HG01255.hp2 HG02735.hp1 HG03491.hp2 HG03688.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0028 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0028 a0001c0001t0057 a0001c0001t0061 a0001c0006t0001	a0001c0001t0001g0017 a0001c0001t0003g0147 a0001c0001t0028g0037 others(3): Show a0001c0001t0001g0017 a0001c0001t0003g0147 a0001c0001t0028g0037 a0001c0001t0057g0229 a0001c0001t0061g0036 a0001c0006t0001g0112	6	252	0.0238	28	c.356 others(47): Show c.356-27137_356-27136insGAGGAAGGAAGGAAGGAGGGAGGGAG GG	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105692424	T T	TCCCTCCC others(21): Show TCCCTCCCTCCTTCCTTCCTTCCTTCCTC	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG03139.hp2 HG03209.hp2 others(4): Show HG02523.hp2 HG03139.hp2 HG03209.hp2 HG03516.hp1 HG03688.hp1 NA18747.hp1 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0017 others(3): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0017 a0001c0001t0018 a0001c0001t0027 a0001c0001t0048	a0001c0001t0001g0026 a0001c0001t0001g0074 a0001c0001t0007g0223 others(4): Show a0001c0001t0001g0026 a0001c0001t0001g0074 a0001c0001t0007g0223 a0001c0001t0017g0113 a0001c0001t0018g0131 a0001c0001t0027g0008 a0001c0001t0048g0132	7	252	0.0278	28	c.356 others(47): Show c.356-27137_356-27136insGAGGAAGGAAGGAAGGAAGGAGGGAG GG	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105692424	T T	TCCTTCCC others(21): Show TCCTTCCCTCCCTCCTTCCTTCCTTCCTC	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0013 a0001c0001t0009g0013	1	252	0.0040	28	c.356 others(47): Show c.356-27137_356-27136insGAGGAAGGAAGGAAGGAGGGAGGGAA GG	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105740784	T T	TTTTTTTT others(21): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTGA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03942.hp1 HG02647.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0201 a0001c0001t0015g0019 a0001c0001t0001g0201 a0001c0001t0015g0019	2	252	0.0079	28	c.355 others(47): Show c.355+47819_355+47820insTCAAAAAAAAAAAAAAAAAAAAAAAA AA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
AURKB_chr17_8199734_8215575	8214581	G G	GAGATATA others(21): Show GAGATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 NA19011.hp1 HG02698.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0080 a0001c0003t0001g0006 a0001c0001t0001g0080 a0001c0003t0001g0006	2	428	0.0047	28	c.-40 others(39): Show c.-4078_-4077insATATATATATATATATATATATATATCT	AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding		4007		chr17	TogoVar
AURKB_chr17_8199734_8215575	8214607	T T	TATATATA others(21): Show TATATATATATATATATACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp2 NA20129.hp2 NA19240.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0005 a0002c0002t0001g0014 a0001c0001t0001g0005 a0002c0002t0001g0014	2	428	0.0047	28	c.-41 others(39): Show c.-4104_-4103insGTGTGTGTGTGTATATATATATATATAT	AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding		4033		chr17	TogoVar
AURKB_chr17_8199734_8215575	8214607	T T	TATATATA others(21): Show TATATATATATATATATATACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18969.hp2 NA18998.hp1 NA19086.hp1 NA18969.hp2 NA18998.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089	3	428	0.0070	28	c.-41 others(39): Show c.-4104_-4103insGTGTGTGTGTATATATATATATATATAT	AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding		4033		chr17	TogoVar
AURKB_chr17_8199734_8215575	8214607	T T	TATATATA others(21): Show TATATATATATATATATATATACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 NA18906.hp1 HG02055.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0030 a0001c0003t0001g0068 a0001c0001t0001g0030 a0001c0003t0001g0068	2	428	0.0047	28	c.-41 others(39): Show c.-4104_-4103insGTGTGTGTATATATATATATATATATAT	AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding		4033		chr17	TogoVar
AURKB_chr17_8199734_8215575	8214607	T T	TATATATA others(21): Show TATATATATATATATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG03225.hp1 NA18954.hp2 others(6): Show HG01496.hp2 HG03225.hp1 NA18954.hp2 NA18963.hp1 NA18967.hp1 NA18967.hp2 NA18971.hp1 NA18983.hp1 NA19004.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0001c0001t0001 a0001c0003t0001 a0002c0002t0001	a0001c0001t0001g0017 a0001c0003t0001g0006 a0002c0002t0001g0009 others(1): Show a0001c0001t0001g0017 a0001c0003t0001g0006 a0002c0002t0001g0009 a0002c0002t0001g0022	9	428	0.0210	28	c.-41 others(39): Show c.-4104_-4103insGTATATATATATATATATATATATATAT	AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding		4033		chr17	TogoVar
AURKC_chr19_57226023_57240548	57239587	T T	TAGAGAGA others(21): Show TAGAGAGAGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG02738.hp2 HG03041.hp2 others(3): Show HG01496.hp1 HG02738.hp2 HG03041.hp2 NA18950.hp2 NA19005.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0013	6	410	0.0146	28	c.41 others(39): Show c.4170_*4171insAGAGAGAGAGAGAGAGAGAGAGAGAGAG	AURKC	ENSG00000105146.14	transcript	ENST00000302804.12	protein_coding		4040		chr19	TogoVar
AUTS2_chr7_69593475_70798506	69870448	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01934.hp1 HG02886.hp1 others(1): Show HG01884.hp2 HG01934.hp1 HG02886.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010	a0001c0001t0002g0049 a0001c0001t0004g0042 a0001c0001t0004g0056 others(1): Show a0001c0001t0002g0049 a0001c0001t0004g0042 a0001c0001t0004g0056 a0001c0001t0010g0065	4	76	0.0526	28	c.310 others(47): Show c.310-28820_310-28819insATATATATATATATATATATATATAT AT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70022164	G G	GATGTTAG others(21): Show GATGTTAGTAACTAAACTGTTAGTTACTA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0033 a0002c0010t0033	a0002c0010t0033g0014 a0002c0010t0033g0014	1	76	0.0132	28	c.523 others(47): Show c.523-95967_523-95966insTGTTAGTAACTAAACTGTTAGTTACT AA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVEN_chr15_33861227_34044204	33899460	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02647.hp1 NA18951.hp1 others(1): Show HG01978.hp1 HG02647.hp1 NA18951.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0097 a0001c0001t0001g0114 a0001c0001t0001g0130 others(1): Show a0001c0001t0001g0097 a0001c0001t0001g0114 a0001c0001t0001g0130 a0001c0001t0004g0150	4	266	0.0150	28	c.446 others(47): Show c.446-23466_446-23465insAAAAAAAAAAAAAAAAAAAAAAAAAA AA	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVL9_chr7_32490489_32593726	32503367	T T	TACACACA others(21): Show TACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02698.hp2 NA19056.hp1 HG02698.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0107 a0001c0001t0108 a0001c0001t0107 a0001c0001t0108	a0001c0001t0107g0283 a0001c0001t0108g0290 a0001c0001t0107g0283 a0001c0001t0108g0290	2	330	0.0061	28	c.93+ others(43): Show c.93+7566_93+7567insCACACACACACACACACACACACACACA	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVL9_chr7_32490489_32593726	32503373	T T	TAGAGAGA others(21): Show TAGAGAGATATACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0110 a0001c0001t0110	a0001c0001t0110g0315 a0001c0001t0110g0315	1	330	0.0030	28	c.93+ others(43): Show c.93+7572_93+7573insGAGAGATATACACACACACACACACACA	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVPI1_chr10_97672424_97692241	97678880	G G	GGTGTGTG others(21): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0301 a0002c0002t0001g0301	1	446	0.0022	28	c.287 others(43): Show c.287+711_287+738dupACACACACACACACACACACACACACAC	AVPI1	ENSG00000119986.7	transcript	ENST00000370626.4	protein_coding	2/2			chr10	TogoVar
AVPR1A_chr12_63137759_63156201	63138059	C C	CTCCCTCC others(21): Show CTCCCTCCCTCCCTCCCTCCTTCCTTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0071 a0001c0001t0018g0071	1	448	0.0022	28	c.92 others(39): Show c.9299_*9300insAGGAAGGAAGGAGGGAGGGAGGGAGGGA	AVPR1A	ENSG00000166148.4	transcript	ENST00000299178.4	protein_coding		4699		chr12	TogoVar
AVPR1A_chr12_63137759_63156201	63138059	C C	CTCCCTCC others(21): Show CTCCCTCCCTCCTTTCTTCCTTCCTTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0075 a0001c0001t0051g0075	1	448	0.0022	28	c.92 others(39): Show c.9299_*9300insAGGAAGGAAGGAAGAAAGGAGGGAGGGA	AVPR1A	ENSG00000166148.4	transcript	ENST00000299178.4	protein_coding		4699		chr12	TogoVar
AVPR1A_chr12_63137759_63156201	63153334	C C	CTATCTAT others(21): Show CTATCTATCTATCTATCTATCTATCTATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp1 HG03139.hp2 HG02004.hp1 HG03139.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0016 a0002c0003t0021 a0001c0001t0016 a0002c0003t0021	a0001c0001t0016g0023 a0002c0003t0021g0065 a0001c0001t0016g0023 a0002c0003t0021g0065	2	448	0.0045	28	c.-24 others(39): Show c.-2499_-2498insAATAGATAGATAGATAGATAGATAGATA	AVPR1A	ENSG00000166148.4	transcript	ENST00000299178.4	protein_coding		2134		chr12	TogoVar
AXIN1_chr16_282440_357723	286073	G G	GTCCCTCC others(21): Show GTCCCTCCCCCCACCAAACCCCACAGTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(88): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00408.hp2 HG00544.hp2 HG00639.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01167.hp1 HG01192.hp1 HG01243.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01884.hp1 HG01884.hp2 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01993.hp2 HG02004.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02809.hp1 HG02809.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03130.hp1 HG03195.hp1 HG03225.hp1 HG03239.hp1 HG03453.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG04115.hp2 HG04184.hp2 NA18522.hp1 NA18612.hp2 NA18906.hp1 NA18950.hp2 NA18959.hp1 NA18960.hp2 NA18967.hp2 NA18970.hp1 NA18979.hp1 NA18995.hp2 NA19005.hp2 NA19043.hp1 NA19043.hp2 NA19058.hp2 NA19240.hp1 NA20300.hp2 NA20905.hp2	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0006 a0009	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0010 a0001c0014 a0001c0018 a0003c0008 a0004c0024 a0006c0031 a0009c0020	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 others(22): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0001t0016 a0001c0001t0030 a0001c0002t0005 a0001c0003t0003 a0001c0003t0004 a0001c0003t0007 a0001c0003t0012 a0001c0003t0022 a0001c0003t0041 a0001c0003t0045 a0001c0004t0026 a0001c0005t0003 a0001c0005t0004 a0001c0005t0028 a0001c0010t0001 a0001c0014t0020 a0001c0018t0003 a0003c0008t0007 a0003c0008t0037 a0004c0024t0039 a0006c0031t0004 a0009c0020t0009	a0001c0001t0001g0196 a0001c0001t0001g0202 a0001c0001t0001g0283 others(87): Show a0001c0001t0001g0196 a0001c0001t0001g0202 a0001c0001t0001g0283 a0001c0001t0001g0289 a0001c0001t0001g0297 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0321 a0001c0001t0001g0333 a0001c0001t0005g0306 a0001c0001t0009g0003 a0001c0001t0009g0371 a0001c0001t0009g0372 a0001c0001t0009g0373 a0001c0001t0009g0375 a0001c0001t0016g0298 a0001c0001t0016g0299 a0001c0001t0016g0319 a0001c0001t0030g0007 a0001c0002t0005g0075 a0001c0003t0003g0044 a0001c0003t0003g0046 a0001c0003t0003g0047 a0001c0003t0003g0048 a0001c0003t0003g0049 a0001c0003t0003g0082 a0001c0003t0003g0183 a0001c0003t0003g0206 a0001c0003t0003g0207 a0001c0003t0003g0210 a0001c0003t0003g0212 a0001c0003t0003g0214 a0001c0003t0003g0221 a0001c0003t0003g0222 a0001c0003t0003g0223 a0001c0003t0003g0232 a0001c0003t0004g0182 a0001c0003t0004g0200 a0001c0003t0004g0201 a0001c0003t0004g0208 a0001c0003t0004g0209 a0001c0003t0004g0211 a0001c0003t0004g0261 a0001c0003t0004g0264 a0001c0003t0004g0301 a0001c0003t0007g0266 a0001c0003t0007g0267 a0001c0003t0007g0268 a0001c0003t0007g0269 a0001c0003t0007g0270 a0001c0003t0007g0271 a0001c0003t0012g0204 a0001c0003t0012g0205 a0001c0003t0012g0213 a0001c0003t0012g0215 a0001c0003t0012g0218 a0001c0003t0012g0219 a0001c0003t0022g0216 a0001c0003t0022g0217 a0001c0003t0041g0045 a0001c0003t0045g0050 a0001c0004t0026g0335 a0001c0004t0026g0348 a0001c0005t0003g0105 a0001c0005t0003g0262 a0001c0005t0004g0109 a0001c0005t0004g0156 a0001c0005t0004g0157 a0001c0005t0004g0167 a0001c0005t0004g0169 a0001c0005t0028g0004 a0001c0010t0001g0309 a0001c0014t0020g0070 a0001c0014t0020g0071 a0001c0018t0003g0220 a0003c0008t0007g0272 a0003c0008t0007g0274 a0003c0008t0037g0273 a0004c0024t0039g0036 a0006c0031t0004g0224 a0009c0020t0009g0374	91	378	0.2407	28	c.20 others(39): Show c.2021_*2048dupGAACTGTGGGGTTTGGTGGGGGGAGGGA	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding		1366		chr16	TogoVar
AXIN1_chr16_282440_357723	326372	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0008 a0001c0007t0008	a0001c0007t0008g0277 a0001c0007t0008g0277	1	378	0.0027	28	c.879 others(47): Show c.879-11690_879-11689insATATTTTTTTTTTTTTTTTTTTTTTT TT	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding	2/10			chr16	TogoVar
AXIN1_chr16_282440_357723	326394	T T	TATATATA others(21): Show TATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 NA20300.hp2 HG02055.hp1 NA20300.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0003 a0001c0004t0023 a0001c0003t0003 a0001c0004t0023	a0001c0003t0003g0049 a0001c0004t0023g0080 a0001c0003t0003g0049 a0001c0004t0023g0080	2	378	0.0053	28	c.879 others(47): Show c.879-11712_879-11711insGTGTGTATATATATATATATATATAT AT	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding	2/10			chr16	TogoVar
B3GALNT2_chr1_235442190_235509452	235447893	T T	TACTTGGG others(21): Show TACTTGGGTAAAGTGACTTGGGTAAAGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0203 a0001c0001t0045g0203	1	344	0.0029	28	c.23 others(39): Show c.2312_*2313insCACTTTACCCAAGTCACTTTACCCAAGT	B3GALNT2	ENSG00000162885.14	transcript	ENST00000366600.8	protein_coding	12/12	2312		chr1	TogoVar
B3GALT1_chr2_167288001_167879045	167303682	C C	CACACACA others(21): Show CACACACACACACACACACACACACATAG	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0014 a0001c0001t0004g0014	1	118	0.0085	28	c.-51 others(49): Show c.-511+10349_-511+10350insCACACACACACACACACACACACA TAGA	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167303682	C C	CACACACA others(21): Show CACACACACACACACACACACAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0018	1	118	0.0085	28	c.-51 others(49): Show c.-511+10349_-511+10350insCACACACACACACACACACAGAGA GAGA	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167521985	T T	TATATATA others(21): Show TATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0025 a0001c0001t0038g0025	1	118	0.0085	28	c.-41 others(49): Show c.-410+31729_-410+31730insTATACACATATATATATATATATA TATA	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GALT5_chr21_39607940_39678137	39639347	T T	TTTCCTTC others(21): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0318 a0001c0001t0002g0318	1	336	0.0030	28	c.-39 others(47): Show c.-391-7025_-391-6998dupCTTCCTTCCTTCCTTCCTTCCTTCCT TC	B3GALT5	ENSG00000183778.19	transcript	ENST00000684187.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
B3GAT2_chr6_70851679_70962060	70855048	T T	TCATATAC others(21): Show TCATATACATATACATATACATATACATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0031 a0001c0002t0031	a0001c0002t0031g0267 a0001c0002t0031g0267	1	316	0.0032	28	c.66 others(39): Show c.6614_*6615insTATGTATATGTATATGTATATGTATATG	B3GAT2	ENSG00000112309.11	transcript	ENST00000230053.11	protein_coding		1630		chr6	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0013	a0002c0002t0013g0008 a0002c0002t0013g0008	1	268	0.0037	28	c.-38 others(39): Show c.-3878_-3877insTATATATATATATATATATATATATATT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(21): Show ATATATATATATATATATTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0013	a0002c0002t0013g0191 a0002c0002t0013g0191	1	268	0.0037	28	c.-38 others(39): Show c.-3878_-3877insTATATATATATATATATTTTTTTTTTTT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31213019	T T	TGTGTGTG others(21): Show TGTGTGTGTGTGTGTGTGCACGCGTGCGC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00609.hp2 HG00735.hp2 others(15): Show HG00140.hp2 HG00609.hp2 HG00735.hp2 HG01071.hp2 HG01074.hp2 HG01106.hp1 HG01167.hp1 HG01169.hp1 HG02027.hp1 HG02074.hp2 HG02165.hp1 HG03225.hp2 HG03491.hp2 HG03492.hp2 HG03942.hp1 NA18979.hp2 NA19062.hp1 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0003c0004t0004	a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0005g0001 others(14): Show a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0005g0001 a0001c0001t0005g0045 a0001c0001t0005g0198 a0001c0001t0005g0199 a0001c0001t0005g0200 a0001c0001t0005g0201 a0001c0001t0005g0202 a0001c0001t0005g0203 a0001c0001t0005g0204 a0001c0001t0005g0206 a0001c0001t0005g0207 a0001c0001t0006g0197 a0003c0004t0004g0205 a0003c0004t0004g0208 a0003c0004t0004g0209	18	268	0.0672	28	c.71- others(43): Show c.71-2021_71-1994dupGTGTGTGCACGCGTGCGCGTGTGTGTGT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31316407	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00735.hp2 HG00741.hp1 others(5): Show HG00609.hp2 HG00735.hp2 HG00741.hp1 HG01074.hp2 HG01106.hp1 HG01256.hp1 HG02055.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0046 a0001c0001t0001g0086 a0001c0001t0001g0100 others(5): Show a0001c0001t0001g0046 a0001c0001t0001g0086 a0001c0001t0001g0100 a0001c0001t0001g0192 a0001c0001t0001g0224 a0001c0001t0005g0045 a0001c0001t0005g0206 a0001c0001t0005g0207	8	268	0.0299	28	c.106 others(47): Show c.1065-1135_1065-1134insTATATATATATATATATATATATATA TA	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(21): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG03834.hp1 HG04199.hp1 others(3): Show HG01981.hp1 HG03834.hp1 HG04199.hp1 NA19004.hp2 NA19064.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0019 a0001c0001t0002 a0001c0001t0003 a0001c0001t0019	a0001c0001t0002g0212 a0001c0001t0002g0215 a0001c0001t0002g0218 others(3): Show a0001c0001t0002g0212 a0001c0001t0002g0215 a0001c0001t0002g0218 a0001c0001t0002g0222 a0001c0001t0003g0145 a0001c0001t0019g0168	6	406	0.0148	28	c.-50 others(43): Show c.-50-640_-50-613dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT	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(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0115 a0002c0002t0003g0125 a0002c0002t0003g0115 a0002c0002t0003g0125	2	390	0.0051	28	c.-30 others(45): Show c.-301-250_-301-249insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	B3GNT5	ENSG00000176597.12	transcript	ENST00000326505.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
B3GNTL1_chr17_82937149_83056770	82946569	A A	AGTGTGTG others(21): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01192.hp1 HG01515.hp2 others(3): Show HG00733.hp1 HG01192.hp1 HG01515.hp2 HG03492.hp2 NA18964.hp1 NA18973.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0005c0026	a0001c0001t0036 a0001c0002t0006 a0001c0006t0006 others(2): Show a0001c0001t0036 a0001c0002t0006 a0001c0006t0006 a0001c0006t0023 a0005c0026t0006	a0001c0001t0036g0244 a0001c0002t0006g0107 a0001c0002t0006g0128 others(3): Show a0001c0001t0036g0244 a0001c0002t0006g0107 a0001c0002t0006g0128 a0001c0006t0006g0047 a0001c0006t0023g0030 a0005c0026t0006g0176	6	266	0.0226	28	c.24 others(43): Show c.24+309_*24+310insACACACACACACACACACACACACACAC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	12/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82958818	G G	GGGTGTAT others(21): Show GGGTGTATGGTGTGTGTGTGTGTGTACAC	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18960.hp1 NA18945.hp2 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0231 a0001c0001t0009g0232 a0001c0001t0009g0231 a0001c0001t0009g0232	2	266	0.0075	28	c.681 others(45): Show c.681-1325_681-1324insGTGTACACACACACACACACCATACACC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	8/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83003682	G G	GTCCGCGT others(21): Show GTCCGCGTGTGGGATTCCTGAGCCCGCCC	intron_variant intron_variant	MODIFIER	HG02818.hp2 NA19043.hp2 HG02818.hp2 NA19043.hp2	a0001 a0003 a0001 a0003	a0001c0006 a0003c0030 a0001c0006 a0003c0030	a0001c0006t0001 a0003c0030t0011 a0001c0006t0001 a0003c0030t0011	a0001c0006t0001g0016 a0003c0030t0011g0140 a0001c0006t0001g0016 a0003c0030t0011g0140	2	266	0.0075	28	c.459 others(45): Show c.459+1405_459+1432dupGGGCGGGCTCAGGAATCCCACACGCGGA	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B4GALNT3_chr12_454939_568509	500865	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03139.hp2 NA19074.hp2 others(1): Show HG02145.hp2 HG03139.hp2 NA19074.hp2 NA19083.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0003 a0001c0001t0074 a0001c0002t0005 others(1): Show a0001c0001t0003 a0001c0001t0074 a0001c0002t0005 a0003c0004t0008	a0001c0001t0003g0152 a0001c0001t0074g0306 a0001c0002t0005g0364 others(1): Show a0001c0001t0003g0152 a0001c0001t0074g0306 a0001c0002t0005g0364 a0003c0004t0008g0310	4	394	0.0102	28	c.170 others(47): Show c.170-34281_170-34280insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT3_chr12_454939_568509	511482	T T	TCCACCTT others(21): Show TCCACCTTCTTCCACCTTCCACCTTCCAC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02280.hp1 HG02258.hp2 HG02280.hp1	a0003 a0007 a0003 a0007	a0003c0004 a0007c0008 a0003c0004 a0007c0008	a0003c0004t0080 a0007c0008t0017 a0003c0004t0080 a0007c0008t0017	a0003c0004t0080g0201 a0007c0008t0017g0178 a0003c0004t0080g0201 a0007c0008t0017g0178	2	394	0.0051	28	c.170 others(47): Show c.170-23683_170-23682insCACCTTCTTCCACCTTCCACCTTCCA CC	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT4_chr11_364499_387117	374817	A A	AGGAAGGG others(21): Show AGGAAGGGAGGGAGGGAGGAGGAAGGGAG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0004 a0004	a0004c0037 a0004c0037	a0004c0037t0001 a0004c0037t0001	a0004c0037t0001g0024 a0004c0037t0001g0024	1	184	0.0054	28	c.784 others(43): Show c.784-641_784-640insAGGGAGGGAGGGAGGAGGAAGGGAGGGA	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	375167	T T	TGGAAGGG others(21): Show TGGAAGGGAGGGAGGTGGAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	184	0.0054	28	c.784 others(43): Show c.784-280_784-279insTGGAGGGAGGAGGAGGAAGGGAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALT1_chr9_33105642_33172336	33150144	G G	GATATATA others(21): Show GATATATACACACATACACACACACACAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00544.hp1 others(196): Show HG00280.hp1 HG00323.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00673.hp1 HG00673.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01257.hp1 HG01261.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01975.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18948.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp2 NA18964.hp1 NA18966.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp1 NA18975.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18988.hp1 NA18990.hp1 NA18991.hp2 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19006.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19012.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19057.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp2 NA19078.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19091.hp1 NA19240.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0006	a0001c0001 a0001c0002 a0004c0004 others(2): Show a0001c0001 a0001c0002 a0004c0004 a0005c0005 a0006c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(43): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0028 a0001c0001t0031 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0045 a0001c0001t0046 a0001c0001t0051 a0001c0001t0052 a0001c0001t0055 a0001c0001t0056 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0071 a0001c0002t0006 a0001c0002t0014 a0001c0002t0022 a0001c0002t0026 a0001c0002t0036 a0001c0002t0037 a0004c0004t0002 a0005c0005t0048 a0006c0007t0002	a0001c0001t0001g0169 a0001c0001t0001g0198 a0001c0001t0001g0316 others(191): Show a0001c0001t0001g0169 a0001c0001t0001g0198 a0001c0001t0001g0316 a0001c0001t0002g0012 a0001c0001t0002g0192 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0200 a0001c0001t0002g0208 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0230 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0251 a0001c0001t0002g0253 a0001c0001t0002g0257 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0284 a0001c0001t0002g0288 a0001c0001t0002g0297 a0001c0001t0003g0001 a0001c0001t0003g0223 a0001c0001t0003g0299 a0001c0001t0003g0300 a0001c0001t0003g0305 a0001c0001t0003g0306 a0001c0001t0003g0307 a0001c0001t0003g0308 a0001c0001t0003g0309 a0001c0001t0003g0310 a0001c0001t0003g0311 a0001c0001t0003g0312 a0001c0001t0003g0314 a0001c0001t0003g0315 a0001c0001t0003g0317 a0001c0001t0003g0318 a0001c0001t0003g0319 a0001c0001t0003g0321 a0001c0001t0003g0322 a0001c0001t0003g0349 a0001c0001t0004g0009 a0001c0001t0004g0010 a0001c0001t0004g0157 a0001c0001t0004g0158 a0001c0001t0004g0159 a0001c0001t0004g0160 a0001c0001t0004g0161 a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0004g0170 a0001c0001t0004g0263 a0001c0001t0004g0272 a0001c0001t0004g0302 a0001c0001t0005g0193 a0001c0001t0005g0199 a0001c0001t0005g0204 a0001c0001t0005g0205 a0001c0001t0005g0206 a0001c0001t0005g0207 a0001c0001t0005g0217 a0001c0001t0005g0218 a0001c0001t0005g0233 a0001c0001t0005g0246 a0001c0001t0005g0250 a0001c0001t0005g0264 a0001c0001t0005g0277 a0001c0001t0005g0278 a0001c0001t0007g0298 a0001c0001t0007g0324 a0001c0001t0007g0325 a0001c0001t0007g0330 a0001c0001t0007g0336 a0001c0001t0007g0338 a0001c0001t0007g0344 a0001c0001t0007g0345 a0001c0001t0008g0304 a0001c0001t0008g0327 a0001c0001t0008g0328 a0001c0001t0008g0331 a0001c0001t0008g0337 a0001c0001t0008g0347 a0001c0001t0008g0348 a0001c0001t0010g0202 a0001c0001t0010g0203 a0001c0001t0010g0222 a0001c0001t0010g0231 a0001c0001t0010g0232 a0001c0001t0010g0256 a0001c0001t0012g0209 a0001c0001t0012g0332 a0001c0001t0012g0333 a0001c0001t0012g0335 a0001c0001t0012g0341 a0001c0001t0012g0346 a0001c0001t0015g0254 a0001c0001t0015g0255 a0001c0001t0015g0261 a0001c0001t0015g0262 a0001c0001t0016g0326 a0001c0001t0019g0153 a0001c0001t0019g0154 a0001c0001t0019g0155 a0001c0001t0020g0285 a0001c0001t0020g0286 a0001c0001t0021g0165 a0001c0001t0021g0166 a0001c0001t0021g0167 a0001c0001t0023g0172 a0001c0001t0023g0173 a0001c0001t0023g0174 a0001c0001t0028g0323 a0001c0001t0031g0342 a0001c0001t0031g0343 a0001c0001t0033g0301 a0001c0001t0033g0303 a0001c0001t0034g0197 a0001c0001t0035g0313 a0001c0001t0038g0258 a0001c0001t0039g0252 a0001c0001t0040g0242 a0001c0001t0041g0201 a0001c0001t0042g0224 a0001c0001t0043g0168 a0001c0001t0045g0156 a0001c0001t0046g0340 a0001c0001t0051g0329 a0001c0001t0052g0267 a0001c0001t0055g0283 a0001c0001t0056g0320 a0001c0001t0059g0194 a0001c0001t0060g0334 a0001c0001t0061g0162 a0001c0001t0062g0339 a0001c0001t0071g0171 a0001c0002t0006g0178 a0001c0002t0006g0179 a0001c0002t0006g0183 a0001c0002t0006g0184 a0001c0002t0006g0187 a0001c0002t0006g0188 a0001c0002t0006g0189 a0001c0002t0006g0229 a0001c0002t0006g0290 a0001c0002t0014g0175 a0001c0002t0014g0176 a0001c0002t0014g0180 a0001c0002t0014g0287 a0001c0002t0022g0186 a0001c0002t0022g0190 a0001c0002t0022g0241 a0001c0002t0026g0177 a0001c0002t0036g0181 a0001c0002t0037g0191 a0004c0004t0002g0216 a0005c0005t0048g0289 a0006c0007t0002g0350	199	366	0.5437	28	c.413 others(47): Show c.413-14721_413-14720insATGTGTGTGTGTGTATGTGTGTATAT AT	B4GALT1	ENSG00000086062.13	transcript	ENST00000379731.5	protein_coding	1/5			chr9	TogoVar
B4GALT1_chr9_33105642_33172336	33157063	T T	TACACACA others(21): Show TACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02027.hp2 HG02647.hp2 HG00597.hp1 HG02027.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0020 a0001c0001t0023 a0001c0001t0005 a0001c0001t0020 a0001c0001t0023	a0001c0001t0005g0264 a0001c0001t0020g0285 a0001c0001t0023g0173 a0001c0001t0005g0264 a0001c0001t0020g0285 a0001c0001t0023g0173	3	366	0.0082	28	c.412 others(45): Show c.412+9667_412+9694dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT	B4GALT1	ENSG00000086062.13	transcript	ENST00000379731.5	protein_coding	1/5			chr9	TogoVar
BABAM2_chr2_27885729_28343901	28112083	C C	CTCTTTCT others(21): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0036	1	158	0.0063	28	c.571 others(47): Show c.571-17150_571-17123dupCTTTCTTTCTTTCTTTCTTTCTTTCT TT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28112146	T T	TTTCTTTC others(21): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	158	0.0063	28	c.571 others(47): Show c.571-17123_571-17122insCTTTCTTTCTTTCTTTCTTTCTTTCC TT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar

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