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
ATRX_chrX_77499880_77791216	77777033	GACAATGT others(31): Show GACAATGTAAATAAATGGACATAGGTGTATTCCAATAGA	G G	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	218	0.0046	-38	c.20+ others(53): Show c.20+8911_20+8948delTCTATTGGAATACACCTATGTCCATTTATT TACATTGT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	1/34			chrX	TogoVar
ATR_chr3_142444235_142583733	142496278	CTATATAT others(31): Show CTATATATATATATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0290 a0002c0005t0001g0290	1	322	0.0031	-38	c.589 others(53): Show c.5898+45_5898+82delTATATATATATATATATATATATATATATA TATATATA	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	34/46			chr3	TogoVar
AUTS2_chr7_69593475_70798506	69876484	GTATATAT others(31): Show GTATATATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0039 a0001c0003t0008g0039	1	76	0.0132	-38	c.310 others(57): Show c.310-22778_310-22741delATATATATATATATATATATATATAT ATATATATATAT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70750443	GCCTCCAC others(31): Show GCCTCCACCTCCCAGGCTCAGGTGTTCCTCCCACCTCAC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(42): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00597.hp1 HG00741.hp1 HG01081.hp2 HG01243.hp1 HG01243.hp2 HG01433.hp1 HG01433.hp2 HG01884.hp1 HG01934.hp2 HG01952.hp1 HG02055.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02886.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03704.hp1 NA18612.hp2 NA18952.hp2 NA19030.hp1 NA19030.hp2 NA19240.hp1 NA19240.hp2 NA20752.hp1 NA21309.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0003 a0001c0004 others(6): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0002c0002 a0002c0010 a0005c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(31): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0034 a0001c0001t0035 a0001c0003t0008 a0001c0003t0027 a0001c0004t0012 a0001c0004t0013 a0001c0005t0030 a0001c0007t0006 a0001c0008t0017 a0002c0002t0001 a0002c0002t0024 a0002c0002t0026 a0002c0002t0031 a0002c0002t0036 a0002c0010t0033 a0005c0011t0007	a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0033 others(42): Show a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0058 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0002g0047 a0001c0001t0002g0062 a0001c0001t0003g0031 a0001c0001t0003g0068 a0001c0001t0004g0056 a0001c0001t0005g0015 a0001c0001t0006g0010 a0001c0001t0006g0038 a0001c0001t0007g0040 a0001c0001t0007g0055 a0001c0001t0008g0063 a0001c0001t0010g0064 a0001c0001t0015g0001 a0001c0001t0016g0002 a0001c0001t0018g0003 a0001c0001t0019g0075 a0001c0001t0020g0029 a0001c0001t0021g0060 a0001c0001t0022g0032 a0001c0001t0023g0072 a0001c0001t0025g0050 a0001c0001t0034g0018 a0001c0001t0035g0019 a0001c0003t0008g0039 a0001c0003t0008g0069 a0001c0003t0027g0009 a0001c0004t0012g0024 a0001c0004t0013g0025 a0001c0005t0030g0013 a0001c0007t0006g0027 a0001c0008t0017g0046 a0002c0002t0001g0057 a0002c0002t0024g0059 a0002c0002t0026g0011 a0002c0002t0031g0007 a0002c0002t0036g0017 a0002c0010t0033g0014 a0005c0011t0007g0004	45	76	0.5921	-38	c.743 others(57): Show c.743-12389_743-12352delCCCTCCACCTCCCAGGCTCAGGTGTT CCTCCCACCTCA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVL9_chr7_32490489_32593726	32579456	TATTATAT others(31): Show TATTATATATAATATATTATATTATATATAATATATTAC	T T	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0128 a0001c0001t0128	a0001c0001t0128g0237 a0001c0001t0128g0237	1	330	0.0030	-38	c.168 others(55): Show c.1689-760_1689-723delTATATATAATATATTATATTATATATAA TATATTACAT	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVPI1_chr10_97672424_97692241	97678880	GGTGTGTG others(31): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0226 a0003c0003t0001g0226	1	446	0.0022	-38	c.287 others(53): Show c.287+701_287+738delACACACACACACACACACACACACACACAC ACACACAC	AVPI1	ENSG00000119986.7	transcript	ENST00000370626.4	protein_coding	2/2			chr10	TogoVar
B3GALT1_chr2_167288001_167879045	167330111	TAACCCTT others(31): Show TAACCCTTTCATTCCTTCTTCACTCTAGGACCCTGATAA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02922.hp1 HG03225.hp1 others(1): Show HG02258.hp1 HG02922.hp1 HG03225.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0018 others(1): Show a0001c0001t0002 a0001c0001t0010 a0001c0001t0018 a0001c0001t0024	a0001c0001t0002g0094 a0001c0001t0010g0092 a0001c0001t0018g0093 others(1): Show a0001c0001t0002g0094 a0001c0001t0010g0092 a0001c0001t0018g0093 a0001c0001t0024g0091	4	118	0.0339	-38	c.-51 others(59): Show c.-511+36778_-511+36815delAACCCTTTCATTCCTTCTTCACTC TAGGACCCTGATAA	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	1/4			chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167512583	TATATATA others(31): Show TATATATATGTGTATATATATATATGTATATATATATAC	T T	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0044 a0001c0001t0037g0044	1	118	0.0085	-38	c.-41 others(59): Show c.-410+22307_-410+22344delATATATATGTGTATATATATATAT GTATATATATATAC	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	2/4			chr2	TogoVar
B3GALT5_chr21_39607940_39678137	39611620	CACTTGAT others(31): Show CACTTGATGCTGCCTGAGGCGGCATCCTGTCTGGCCCTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0019 a0002c0002t0019	a0002c0002t0019g0299 a0002c0002t0019g0299	1	336	0.0030	-38	c.-18 others(49): Show c.-1838_-1801delACTTGATGCTGCCTGAGGCGGCATCCTGTCTGGC CCTG	B3GALT5	ENSG00000183778.19	transcript	ENST00000684187.2	protein_coding		1319		chr21	TogoVar
B3GNT5_chr3_183248253_183278385	183269368	TAACTACC others(31): Show TAACTACCTCATCACCTTTTGTGCAGACAGGGCAGGTTA	T T	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA18970.hp1 NA19007.hp1 others(2): Show HG02040.hp1 NA18970.hp1 NA19007.hp1 NA19067.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0035 a0001c0001t0001g0102 a0001c0001t0001g0145 others(1): Show a0001c0001t0001g0035 a0001c0001t0001g0102 a0001c0001t0001g0145 a0001c0001t0013g0101	5	390	0.0128	-38	c.-30 others(54): Show c.-301-129_-301-92delAACTACCTCATCACCTTTTGTGCAGACAG GGCAGGTTA	B3GNT5	ENSG00000176597.12	transcript	ENST00000326505.4	protein_coding	1/1			chr3	TogoVar
B3GNT6_chr11_77029398_77046973	77032642	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATATAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG03579.hp2 HG02886.hp2 HG03579.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0010 a0002c0003t0006 a0002c0003t0010	a0002c0003t0006g0006 a0002c0003t0010g0020 a0002c0003t0006g0006 a0002c0003t0010g0020	2	442	0.0045	-38	c.-18 others(49): Show c.-1836_-1799delATATATATATATATATATATATATATATATATAT ATAC	B3GNT6	ENSG00000198488.10	transcript	ENST00000622824.1	protein_coding		1755		chr11	TogoVar
B3GNT6_chr11_77029398_77046973	77032670	TATATATA others(31): Show TATATATATACACATACATACATACATATATATATATAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG03041.hp1 others(3): Show HG02895.hp1 HG02897.hp1 HG03041.hp1 HG03471.hp2 HG03540.hp1 NA18906.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0003 a0004c0006 a0001c0001 a0002c0003 a0004c0006	a0001c0001t0007 a0002c0003t0004 a0002c0003t0006 others(2): Show a0001c0001t0007 a0002c0003t0004 a0002c0003t0006 a0004c0006t0025 a0004c0006t0028	a0001c0001t0007g0011 a0002c0003t0004g0004 a0002c0003t0004g0046 others(3): Show a0001c0001t0007g0011 a0002c0003t0004g0004 a0002c0003t0004g0046 a0002c0003t0006g0006 a0004c0006t0025g0029 a0004c0006t0028g0003	6	442	0.0136	-38	c.-18 others(49): Show c.-1808_-1771delATATATATACACATACATACATACATATATATAT ATAC	B3GNT6	ENSG00000198488.10	transcript	ENST00000622824.1	protein_coding		1727		chr11	TogoVar
B3GNTL1_chr17_82937149_83056770	82972037	CCACACCA others(31): Show CCACACCACACCACAGGGGCTAGAAGGACCTGGTGCCGA	C C	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA19062.hp1 NA18983.hp2 NA19062.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0010 a0001c0006t0010 a0001c0002t0010 a0001c0006t0010	a0001c0002t0010g0132 a0001c0006t0010g0010 a0001c0002t0010g0132 a0001c0006t0010g0010	2	266	0.0075	-38	c.460 others(55): Show c.460-6329_460-6292delTCGGCACCAGGTCCTTCTAGCCCCTGTG GTGTGGTGTG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83015192	GGGGGACC others(31): Show GGGGGACCATCTGCGGTGAGGACCTGCCACCACTGTGGA	G G	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0016 a0001c0006t0001g0016	1	266	0.0038	-38	c.298 others(53): Show c.298-711_298-674delTCCACAGTGGTGGCAGGTCCTCACCGCAGA TGGTCCCC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83039378	GTTCTAGA others(31): Show GTTCTAGACACACTGCTGGGCGCCCGCCGCCCGCCCCTC	G G	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0243 a0001c0001t0004g0243	1	266	0.0038	-38	c.233 others(55): Show c.233-4317_233-4280delGAGGGGCGGGCGGCGGGCGCCCAGCAGT GTGTCTAGAA	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	3/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83047830	CTACCAAA others(31): Show CTACCAAAGAATAAGAAATTTAGGTCTATAATAAATCCT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02080.hp2 NA19010.hp1 HG00621.hp2 HG02080.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0027 a0001c0001t0002 a0001c0001t0027	a0001c0001t0002g0174 a0001c0001t0002g0183 a0001c0001t0027g0184 a0001c0001t0002g0174 a0001c0001t0002g0183 a0001c0001t0027g0184	3	266	0.0113	-38	c.232 others(53): Show c.232+603_232+640delAGGATTTATTATAGACCTAAATTTCTTATT CTTTGGTA	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	3/12			chr17	TogoVar
B4GALNT3_chr12_454939_568509	512187	CCTTCCGC others(31): Show CCTTCCGCCTTCCACCTTCCACCTTCCACCTTCCACCTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01433.hp2 NA20905.hp2 HG00280.hp2 HG01433.hp2 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0049 a0001c0001 a0002c0003 a0003c0049	a0001c0001t0005 a0002c0003t0006 a0003c0049t0002 a0001c0001t0005 a0002c0003t0006 a0003c0049t0002	a0001c0001t0005g0007 a0002c0003t0006g0046 a0003c0049t0002g0091 a0001c0001t0005g0007 a0002c0003t0006g0046 a0003c0049t0002g0091	3	394	0.0076	-38	c.170 others(57): Show c.170-22973_170-22936delGCCTTCCACCTTCCACCTTCCACCTT CCACCTTCTTCC	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT4_chr11_364499_387117	377581	CTTGCACC others(31): Show CTTGCACCTGTGTACCCCACTTCTGTCATCCTGGACCTG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	184	0.0054	-38	c.220 others(55): Show c.2204+255_2204+292delTTGCACCTGTGTACCCCACTTCTGTCAT CCTGGACCTG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	14/19			chr11	TogoVar
B4GALNT4_chr11_364499_387117	383354	CTTTGCCA others(31): Show CTTTGCCATGAAGGTAACAGTCACAGGTTCTGGGACTAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0126 a0002c0002t0001g0126	1	184	0.0054	-38	c.15 others(49): Show c.1563_*1600delTTTGCCATGAAGGTAACAGTCACAGGTTCTGGGA CTAG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding		1238		chr11	TogoVar
B4GALNT4_chr11_364499_387117	384901	ACACAGCT others(31): Show ACACAGCTGGGCAAGACCCACTCCCAGGCCTGGAACCCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 HG04199.hp2 HG02040.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0076 a0001c0001t0001g0040 a0001c0001t0001g0076	2	184	0.0109	-38	c.31 others(49): Show c.3110_*3147delCACAGCTGGGCAAGACCCACTCCCAGGCCTGGAA CCCC	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding		2785		chr11	TogoVar
B9D2_chr19_41349417_41369149	41366735	AGGCATGA others(31): Show AGGCATGAGCCACTGCTCCCGGCTGAGGTCTTCATTCTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0005 a0002c0002t0001g0005	1	360	0.0028	-38	c.-28 others(49): Show c.-2820_-2783delCAGAATGAAGACCTCAGCCGGGAGCAGTGGCTCA TGCC	B9D2	ENSG00000123810.9	transcript	ENST00000243578.8	protein_coding		2587		chr19	TogoVar
BAHCC1_chr17_81390457_81471331	81416011	TGTGTGTG others(31): Show TGTGTGTGTCCATGAGGATGGGTGTATGCGCATGTGTGC	T T	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03139.hp2 NA19030.hp1 HG02886.hp1 HG03139.hp2 NA19030.hp1	a0002 a0016 a0002 a0016	a0002c0001 a0016c0030 a0002c0001 a0016c0030	a0002c0001t0001 a0016c0030t0007 a0002c0001t0001 a0016c0030t0007	a0002c0001t0001g0274 a0016c0030t0007g0032 a0016c0030t0007g0239 a0002c0001t0001g0274 a0016c0030t0007g0032 a0016c0030t0007g0239	3	332	0.0090	-38	c.179 others(57): Show c.179-10761_179-10724delCGCATGTGTGCGTGTGTGTCCATGAG GATGGGTGTATG	BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAMBI_chr10_28672521_28687932	28685652	TTTTTTCC others(31): Show TTTTTTCCTTTTATTTTGAATGGCTTAGAGGCTTCCTAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0001 a0001c0001t0009g0001	1	436	0.0023	-38	c.32 others(49): Show c.3252_*3289delTTTTTCCTTTTATTTTGAATGGCTTAGAGGCTTC CTAG	BAMBI	ENSG00000095739.11	transcript	ENST00000375533.6	protein_coding		2721		chr10	TogoVar
BATF2_chr11_64982945_65001971	64983522	TTATATTT others(31): Show TTATATTTTATTTTATATTTTATTTTATATTTTATTTTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00642.hp1 HG00735.hp2 others(28): Show HG00140.hp1 HG00642.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01123.hp1 HG01123.hp2 HG01192.hp1 HG01258.hp1 HG01361.hp1 HG01496.hp2 HG01515.hp1 HG02004.hp2 HG02071.hp2 HG02293.hp1 HG02559.hp2 HG02622.hp1 HG03195.hp1 HG03195.hp2 HG03492.hp2 HG03927.hp1 NA18944.hp1 NA18946.hp2 NA18982.hp1 NA19007.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0018 others(8): Show a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0047 a0001c0001t0001g0061 a0001c0001t0001g0066 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0014g0070	31	404	0.0767	-38	c.55 others(49): Show c.5569_*5606delTAAAATAAAATATAAAATAAAATATAAAATAAAA TATA	BATF2	ENSG00000168062.10	transcript	ENST00000301887.9	protein_coding		4422		chr11	TogoVar
BAZ2B_chr2_159313979_159621548	159324625	TACACACA others(31): Show TACACACACACACACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0170 a0001c0001t0002g0170	1	216	0.0046	-38	c.635 others(55): Show c.6353+148_6353+185delGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGT	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	36/36			chr2	TogoVar
BAZ2B_chr2_159313979_159621548	159325041	TATTATAT others(31): Show TATTATATATATATATATATTATATATATATATATATTA	T T	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01192.hp1 HG02572.hp1 others(18): Show HG00673.hp2 HG01192.hp1 HG02572.hp1 HG02622.hp2 HG02698.hp2 HG02896.hp1 HG03041.hp1 HG03516.hp1 HG03942.hp2 HG04204.hp1 NA18942.hp1 NA18946.hp1 NA18946.hp2 NA18949.hp2 NA18952.hp1 NA18986.hp1 NA19066.hp2 NA19072.hp1 NA19079.hp1 NA19086.hp2 NA19240.hp2	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0005 a0006 a0007 a0016 a0021	a0001c0001 a0001c0008 a0002c0002 others(7): Show a0001c0001 a0001c0008 a0002c0002 a0002c0018 a0004c0009 a0005c0005 a0006c0006 a0007c0010 a0016c0026 a0021c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0008t0001 a0002c0002t0001 a0002c0018t0001 a0004c0009t0001 a0005c0005t0001 a0006c0006t0001 a0007c0010t0001 a0016c0026t0001 a0021c0012t0001	a0001c0001t0001g0029 a0001c0001t0001g0044 a0001c0001t0001g0095 others(18): Show a0001c0001t0001g0029 a0001c0001t0001g0044 a0001c0001t0001g0095 a0001c0001t0001g0111 a0001c0001t0001g0127 a0001c0001t0002g0153 a0001c0001t0002g0164 a0001c0001t0002g0178 a0001c0001t0002g0199 a0001c0001t0003g0001 a0001c0008t0001g0060 a0002c0002t0001g0037 a0002c0018t0001g0066 a0004c0009t0001g0099 a0004c0009t0001g0100 a0005c0005t0001g0042 a0005c0005t0001g0094 a0006c0006t0001g0081 a0007c0010t0001g0115 a0016c0026t0001g0075 a0021c0012t0001g0073	21	216	0.0972	-38	c.621 others(54): Show c.6210-125_6210-88delTAATATATATATATATATAATATATATAT ATATATAAT	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	35/36			chr2	TogoVar
BBX_chr3_107517962_107816339	107638780	TACACACA others(31): Show TACACACACACACACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02615.hp2 HG03453.hp1 others(2): Show HG02257.hp2 HG02615.hp2 HG03453.hp1 HG03486.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 a0001c0001t0001 a0001c0001t0002 a0001c0001t0016	a0001c0001t0001g0165 a0001c0001t0002g0138 a0001c0001t0002g0139 others(2): Show a0001c0001t0001g0165 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0016g0210 a0001c0001t0016g0211	5	222	0.0225	-38	c.-83 others(55): Show c.-83-7040_-83-7003delCACACACACACACACACACACACACACA CACACACACA	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BCL11A_chr2_60452194_60558654	60507345	AAGGGAAG others(31): Show AAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 NA19240.hp2 NA20300.hp2 HG01167.hp1 NA19240.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0013 a0001c0001t0056 a0001c0001t0005 a0001c0001t0013 a0001c0001t0056	a0001c0001t0005g0233 a0001c0001t0013g0248 a0001c0001t0056g0196 a0001c0001t0005g0233 a0001c0001t0013g0248 a0001c0001t0056g0196	3	262	0.0115	-38	c.386 others(57): Show c.386-38550_386-38513delCCCTCCCTTCCCTTCCCTTCCCTTCC CTTCCCTTCCCT	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	2/3			chr2	TogoVar
BCL2L13_chr22_17633757_17735855	17715136	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0024 a0001c0001t0003g0024	1	306	0.0033	-38	c.601 others(57): Show c.601-11539_601-11502delATATATATATATATATATATATATAT ATATATATTTTT	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
BCR_chr22_23175509_23323037	23262089	GCCATCAC others(31): Show GCCATCACACCCTGTGTGCGCCATCACACCCTGTGTGCA	G G	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0005 a0003c0008t0005	a0003c0008t0005g0086 a0003c0008t0005g0086	1	296	0.0034	-38	c.175 others(55): Show c.1752+568_1752+605delGCCATCACACCCTGTGTGCACCATCACA CCCTGTGTGC	BCR	ENSG00000186716.21	transcript	ENST00000305877.13	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr22	TogoVar
BEGAIN_chr14_100532147_100592417	100573172	AGGTGAGT others(31): Show AGGTGAGTCTGGGGGGAGGGGCTTCCGGAGGAGGGGGCT	A A	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0040 a0001c0002t0004g0040	1	326	0.0031	-38	c.43- others(53): Show c.43-5271_43-5234delAGCCCCCTCCTCCGGAAGCCCCTCCCCCCA GACTCACC	BEGAIN	ENSG00000183092.18	transcript	ENST00000554140.3	protein_coding	1/6			chr14	TogoVar
BEGAIN_chr14_100532147_100592417	100573242	GGGGGCTG others(31): Show GGGGGCTGGTGAGTCTGGGGGGAGGGGCTTCCGGAGGAC	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02258.hp2 HG02280.hp2 others(21): Show HG02055.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02647.hp1 HG02809.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG03041.hp2 HG03130.hp2 HG03195.hp1 HG03209.hp2 HG03453.hp1 HG03516.hp2 HG06807.hp1 HG06807.hp2 NA19043.hp1 NA19240.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0008 others(1): Show a0001c0001 a0001c0003 a0001c0008 a0001c0009	a0001c0001t0001 a0001c0003t0001 a0001c0008t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0008t0001 a0001c0009t0001	a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 others(19): Show a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0046 a0001c0001t0001g0062 a0001c0001t0001g0071 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0003t0001g0003 a0001c0003t0001g0054 a0001c0003t0001g0064 a0001c0003t0001g0067 a0001c0003t0001g0140 a0001c0003t0001g0141 a0001c0003t0001g0142 a0001c0003t0001g0143 a0001c0003t0001g0171 a0001c0003t0001g0172 a0001c0003t0001g0174 a0001c0008t0001g0066 a0001c0008t0001g0167 a0001c0009t0001g0136	24	326	0.0736	-38	c.43- others(53): Show c.43-5341_43-5304delGTCCTCCGGAAGCCCCTCCCCCCAGACTCA CCAGCCCC	BEGAIN	ENSG00000183092.18	transcript	ENST00000554140.3	protein_coding	1/6			chr14	TogoVar
BEND3_chr6_107060182_107120515	107073197	GTATGTAT others(31): Show GTATGTATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01167.hp2 HG01516.hp1 others(8): Show HG00323.hp1 HG01167.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 NA18946.hp2 NA18977.hp1 NA18977.hp2 NA19030.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0020 a0001c0001t0031	a0001c0001t0002g0078 a0001c0001t0002g0090 a0001c0001t0002g0279 others(8): Show a0001c0001t0002g0078 a0001c0001t0002g0090 a0001c0001t0002g0279 a0001c0001t0003g0324 a0001c0001t0005g0065 a0001c0001t0005g0099 a0001c0001t0005g0122 a0001c0001t0005g0144 a0001c0001t0005g0286 a0001c0001t0020g0111 a0001c0001t0031g0057	11	368	0.0299	-38	c.241 others(55): Show c.241-2285_241-2248delTATATATATATATATATATATATATATA TATATACATA	BEND3	ENSG00000178409.14	transcript	ENST00000369042.6	protein_coding	3/3			chr6	TogoVar
BEND3_chr6_107060182_107120515	107073201	GTATATAT others(31): Show GTATATATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01261.hp2 others(5): Show HG01069.hp2 HG01071.hp1 HG01261.hp2 HG03710.hp1 HG04199.hp2 NA18949.hp2 NA19058.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0002t0006 others(1): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0006 a0001c0002t0029	a0001c0001t0002g0254 a0001c0002t0001g0241 a0001c0002t0001g0248 others(5): Show a0001c0001t0002g0254 a0001c0002t0001g0241 a0001c0002t0001g0248 a0001c0002t0001g0334 a0001c0002t0001g0335 a0001c0002t0006g0275 a0001c0002t0006g0296 a0001c0002t0029g0356	8	368	0.0217	-38	c.241 others(55): Show c.241-2289_241-2252delTATATATATATATATATATATATATATA TATATATATA	BEND3	ENSG00000178409.14	transcript	ENST00000369042.6	protein_coding	3/3			chr6	TogoVar
BFSP2_chr3_133395056_133480208	133446570	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01081.hp2 others(3): Show HG01070.hp1 HG01071.hp1 HG01081.hp2 HG01169.hp2 HG01346.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0004 a0001c0001t0001g0036 a0001c0001t0001g0257 others(2): Show a0001c0001t0001g0004 a0001c0001t0001g0036 a0001c0001t0001g0257 a0001c0002t0001g0039 a0001c0002t0001g0084	6	276	0.0217	-38	c.490 others(53): Show c.490-714_490-677delTATATATATATATATATATATATATATATA TATATATA	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BID_chr22_17729138_17779469	17756450	TCTTTCTT others(31): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0168 a0003c0004t0001g0168	1	362	0.0028	-38	c.-58 others(55): Show c.-58-6314_-58-6277delGAAAGAAAGAAAAGAAAGAAAGAAAGAA AGAAAGAAAG	BID	ENSG00000015475.19	transcript	ENST00000622694.5	protein_coding	1/5			chr22	TogoVar
BLOC1S2_chr10_100268293_100291680	100276327	CTCTCTCC others(31): Show CTCTCTCCCGTCTCCCTCTCCCGTCTCCCTCTCCCGTCT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0190 a0001c0001t0004g0190	1	378	0.0027	-38	c.398 others(53): Show c.398-872_398-835delAGACGGGAGAGGGAGACGGGAGAGGGAGAC GGGAGAGA	BLOC1S2	ENSG00000196072.12	transcript	ENST00000370372.7	protein_coding	4/4			chr10	TogoVar
BLOC1S2_chr10_100268293_100291680	100276375	GTCTCCCT others(31): Show GTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCC	G G	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	378	0.0027	-38	c.398 others(53): Show c.398-920_398-883delGGGAGACGGGAGAGGGAGAGGGAGACGGGA GAGGGAGA	BLOC1S2	ENSG00000196072.12	transcript	ENST00000370372.7	protein_coding	4/4			chr10	TogoVar
BMAL2_chr12_27327836_27430286	27341138	ACTATGTT others(31): Show ACTATGTTGAGTAAGAGTGGTAAGACAGGACATCCTTGT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp1 HG00639.hp2 others(17): Show HG00323.hp2 HG00438.hp1 HG00639.hp2 HG01069.hp2 HG01074.hp2 HG01243.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01934.hp2 HG02738.hp1 HG03942.hp1 HG04184.hp2 NA18961.hp2 NA18965.hp1 NA18971.hp1 NA18977.hp1 NA18995.hp2 NA19012.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0001t0013 a0001c0001t0015 a0001c0001t0025 a0001c0001t0038	a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0001g0186 others(17): Show a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0002g0187 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0197 a0001c0001t0002g0199 a0001c0001t0002g0209 a0001c0001t0004g0192 a0001c0001t0010g0188 a0001c0001t0013g0193 a0001c0001t0015g0181 a0001c0001t0015g0184 a0001c0001t0025g0195 a0001c0001t0038g0183	20	310	0.0645	-38	c.31+ others(53): Show c.31+8038_31+8075delATGTTGAGTAAGAGTGGTAAGACAGGACAT CCTTGTCT	BMAL2	ENSG00000029153.15	transcript	ENST00000266503.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
BMPER_chr7_33900539_34161427	34024384	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0074 a0001c0001t0002g0074	1	232	0.0043	-38	c.577 others(57): Show c.577-21909_577-21872delATATATATATATATATATATATATAT ATATATATATAT	BMPER	ENSG00000164619.10	transcript	ENST00000649409.2	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
BMPER_chr7_33900539_34161427	34129600	GAGAGAGA others(31): Show GAGAGAGAGAAAGAGAGAGAGAGAGAAAGAGAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0132 a0002c0006t0001g0132	1	232	0.0043	-38	c.174 others(59): Show c.1746-13626_1746-13589delGAGAGAAAGAGAGAGAGAGAGAAA GAGAGAAAGAAAGA	BMPER	ENSG00000164619.10	transcript	ENST00000649409.2	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
BNIP1_chr5_173139531_173169387	173165568	CTAATGGA others(31): Show CTAATGGACCACAGGACCATTGGCAAGTTACTTTATGTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0158 a0001c0001t0008g0158	1	352	0.0028	-38	c.16 others(49): Show c.1648_*1685delTAATGGACCACAGGACCATTGGCAAGTTACTTTA TGTT	BNIP1	ENSG00000113734.18	transcript	ENST00000351486.10	protein_coding		1182		chr5	TogoVar
BNIP5_chr6_36310761_36341888	36324575	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02976.hp2 HG04228.hp2 others(2): Show HG02559.hp2 HG02976.hp2 HG04228.hp2 NA18522.hp1 NA19006.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0007 a0001c0001 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0002c0007t0001	a0001c0001t0001g0119 a0001c0001t0002g0089 a0001c0001t0004g0058 others(1): Show a0001c0001t0001g0119 a0001c0001t0002g0089 a0001c0001t0004g0058 a0002c0007t0001g0031	5	424	0.0118	-38	c.116 others(55): Show c.1169-423_1169-386delTATATATATATATATATATATATATATA TATATATATA	BNIP5	ENSG00000189325.7	transcript	ENST00000437635.3	protein_coding	6/11			chr6	TogoVar
BOC_chr3_113206557_113292459	113236266	GTATATAT others(31): Show GTATATATACCCATGGGTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01891.hp1 HG01106.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0103 a0001c0001t0009g0189 a0001c0001t0001g0103 a0001c0001t0009g0189	2	386	0.0052	-38	c.-81 others(57): Show c.-81-13440_-81-13403delGTATATATATATATATATATATATAT ATATACCCATGG	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BOP1_chr8_144257045_144296438	144269658	AATCCTGC others(31): Show AATCCTGCAGGAGCCCACAGCTGGCCAGAGGGAGGGGAG	A A	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0018 a0018	a0018c0023 a0018c0023	a0018c0023t0001 a0018c0023t0001	a0018c0023t0001g0139 a0018c0023t0001g0139	1	398	0.0025	-38	c.391 others(55): Show c.391-4625_391-4588delCTCCCCTCCCTCTGGCCAGCTGTGGGCT CCTGCAGGAT	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	3/15			chr8	TogoVar
BRDT_chr1_91944401_92019421	91945279	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG01261.hp2 HG01993.hp2 others(4): Show HG00597.hp2 HG01261.hp2 HG01993.hp2 HG02056.hp1 HG02300.hp2 HG03195.hp2 NA19088.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0001 a0005c0005t0002 a0001c0001t0001 a0005c0005t0002	a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 others(4): Show a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0005c0005t0002g0294	7	318	0.0220	-38	c.-44 others(49): Show c.-4440_-4403delATATATATATATATATATATATATATATATATAT ATAT	BRDT	ENSG00000137948.19	transcript	ENST00000399546.7	protein_coding		4121		chr1	TogoVar
BRSK1_chr19_55278997_55317562	55286040	TGGGGGTC others(31): Show TGGGGGTCTGGAGTGCTGGGTCTGAGGGAGGAGGGGCTG	T T	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0018 a0001c0002t0001g0018	1	338	0.0030	-38	c.137 others(53): Show c.137-962_137-925delGTCTGGAGTGCTGGGTCTGAGGGAGGAGGG GCTGGGGG	BRSK1	ENSG00000160469.17	transcript	ENST00000309383.6	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
BSPRY_chr9_113344541_113376222	113357886	CTATATAT others(31): Show CTATATATATATATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00408.hp1 others(36): Show HG00099.hp2 HG00323.hp2 HG00408.hp1 HG00558.hp1 HG00558.hp2 HG00621.hp2 HG00673.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG02015.hp2 HG02071.hp2 HG02074.hp2 HG02083.hp1 HG02602.hp1 HG02698.hp1 HG03490.hp1 HG03669.hp2 HG03710.hp1 HG03834.hp1 HG03927.hp2 HG04115.hp1 HG04199.hp1 NA18942.hp1 NA18956.hp1 NA18962.hp2 NA18971.hp2 NA18979.hp2 NA18987.hp1 NA18987.hp2 NA18992.hp1 NA19000.hp2 NA19002.hp1 NA19063.hp2 NA19065.hp2 NA19066.hp1 NA19077.hp2 NA20752.hp2 NA20905.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0003 a0008c0011 a0001c0001 a0002c0003 a0008c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0005 a0002c0003t0006 a0002c0003t0007 a0002c0003t0008 a0002c0003t0010 a0002c0003t0011 a0002c0003t0029 a0008c0011t0011	a0001c0001t0001g0167 a0001c0001t0002g0004 a0001c0001t0005g0045 others(31): Show a0001c0001t0001g0167 a0001c0001t0002g0004 a0001c0001t0005g0045 a0001c0001t0006g0288 a0001c0001t0006g0292 a0002c0003t0001g0059 a0002c0003t0001g0070 a0002c0003t0001g0071 a0002c0003t0002g0028 a0002c0003t0002g0293 a0002c0003t0002g0302 a0002c0003t0003g0164 a0002c0003t0005g0297 a0002c0003t0005g0303 a0002c0003t0006g0004 a0002c0003t0006g0012 a0002c0003t0006g0059 a0002c0003t0006g0289 a0002c0003t0006g0296 a0002c0003t0006g0307 a0002c0003t0007g0004 a0002c0003t0007g0012 a0002c0003t0007g0306 a0002c0003t0008g0291 a0002c0003t0008g0298 a0002c0003t0010g0211 a0002c0003t0010g0290 a0002c0003t0010g0299 a0002c0003t0011g0012 a0002c0003t0011g0163 a0002c0003t0011g0165 a0002c0003t0011g0166 a0002c0003t0029g0028 a0008c0011t0011g0012	39	448	0.0871	-38	c.301 others(55): Show c.301-2601_301-2564delATATATATATATATATATATATATATAT ATATATATAT	BSPRY	ENSG00000119411.11	transcript	ENST00000374183.5	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
BTBD2_chr19_1980448_2020714	1988584	AGACGGAG others(31): Show AGACGGAGTTTCGCTCTTGTCCCCCAGGCTAGAGTGCAG	A A	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0028 a0002c0005t0028	a0002c0005t0028g0063 a0002c0005t0028g0063	1	364	0.0028	-38	c.989 others(53): Show c.989-930_989-893delCTGCACTCTAGCCTGGGGGACAAGAGCGAA ACTCCGTC	BTBD2	ENSG00000133243.10	transcript	ENST00000255608.9	protein_coding	5/8			chr19	TogoVar
BTBD7_chr14_93232550_93338036	93300704	TTGTGTGT others(31): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA19060.hp1 NA18968.hp2 NA19060.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0029 a0003c0003t0029	a0003c0003t0029g0132 a0003c0003t0029g0133 a0003c0003t0029g0132 a0003c0003t0029g0133	2	375	0.0053	-38	c.-10 others(57): Show c.-106-4585_-106-4548delCACACACACACACACACACACACACA CACACACACACA	BTBD7	ENSG00000011114.15	transcript	ENST00000334746.10	protein_coding	1/10			chr14	TogoVar

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