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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
B3GNTL1_chr17_82937149_83056770	82958860	GGTGTGTG others(27): Show GGTGTGTGTGTGTGTGTACACTGGGGGTGTATGGT	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0256 a0001c0001t0005g0256	1	266	0.0038	-34	c.681 others(51): Show c.681-1400_681-1367delACCATACACCCCCAGTGTACACACACAC ACACAC		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	8/12						chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82972585	ACGGGCCA others(27): Show ACGGGCCAGAAGGACCTGGTGCCGACACACCACAC	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02896.hp2 HG02886.hp1 HG02896.hp2	a0001 a0001	a0001c0006 a0001c0011 a0001c0006 a0001c0011	a0001c0006t0011 a0001c0011t0010 a0001c0006t0011 a0001c0011t0010	a0001c0006t0011g0027 a0001c0011t0010g0146 a0001c0006t0011g0027 a0001c0011t0010g0146	2	266	0.0075	-34	c.460 others(51): Show c.460-6873_460-6840delGTGTGGTGTGTCGGCACCAGGTCCTTCT GGCCCG		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12						chr17	TogoVar
BABAM2_chr2_27885729_28343901	27887683	ATGATTTT others(27): Show ATGATTTTGCTAATCATCAGTAAAATTTTTACTAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00639.hp1 HG00639.hp2 others(69): Show HG00140.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01167.hp1 HG01168.hp2 HG01192.hp2 HG01243.hp1 HG01346.hp2 HG01433.hp1 HG01496.hp2 HG01934.hp2 HG02027.hp1 HG02040.hp2 HG02074.hp1 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp2 HG02572.hp1 HG02615.hp1 HG02647.hp1 HG02698.hp2 HG02735.hp2 HG02738.hp2 HG02818.hp2 HG02897.hp1 HG02897.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03540.hp2 HG03688.hp2 HG03834.hp2 NA18954.hp1 NA18955.hp1 NA18964.hp2 NA18968.hp1 NA18969.hp2 NA18974.hp2 NA18982.hp1 NA18986.hp1 NA19030.hp2 NA19043.hp2 NA19077.hp2 NA19091.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0001	a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0031 others(69): Show a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0068 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0156 a0001c0001t0002g0158 a0001c0001t0003g0067 a0001c0001t0003g0148 a0002c0002t0001g0085	72	158	0.4557	-34	c.-31 others(45): Show c.-3183_-3150delTGATTTTGCTAATCATCAGTAAAATTTTTACTAG		BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding					3045		chr2	TogoVar
BAG4_chr8_38171855_38218301	38201852	ATATATAT others(27): Show ATATATATATATATATATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA19000.hp2 NA18957.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0033 a0001c0001t0006g0034 a0001c0001t0006g0033 a0001c0001t0006g0034	2	306	0.0065	-34	c.379 others(51): Show c.379-5658_379-5625delATATATATATATATATATATATATATAT TTTTTT		BAG4	ENSG00000156735.11	transcript	ENST00000287322.5	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr8	TogoVar
BAG4_chr8_38171855_38218301	38201854	ATATATAT others(27): Show ATATATATATATATATATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA19074.hp2 NA18942.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0062 a0001c0001t0002g0077 a0001c0001t0002g0062 a0001c0001t0002g0077	2	306	0.0065	-34	c.379 others(51): Show c.379-5656_379-5623delATATATATATATATATATATATATATTT TTTTTT		BAG4	ENSG00000156735.11	transcript	ENST00000287322.5	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr8	TogoVar
BAG4_chr8_38171855_38218301	38201856	ATATATAT others(27): Show ATATATATATATATATATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01081.hp2 NA18953.hp1 others(5): Show HG00609.hp1 HG01081.hp2 NA18953.hp1 NA18974.hp2 NA18984.hp1 NA19002.hp2 NA19030.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0008 a0001c0001t0002g0015 a0001c0001t0002g0028 others(5): Show a0001c0001t0002g0008 a0001c0001t0002g0015 a0001c0001t0002g0028 a0001c0001t0002g0039 a0001c0001t0002g0056 a0001c0001t0002g0059 a0001c0001t0002g0083 a0001c0001t0009g0018	8	306	0.0261	-34	c.379 others(51): Show c.379-5654_379-5621delATATATATATATATATATATATATTTTT TTTTTT		BAG4	ENSG00000156735.11	transcript	ENST00000287322.5	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr8	TogoVar
BAG4_chr8_38171855_38218301	38201858	ATATATAT others(27): Show ATATATATATATATATATATATATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	1	306	0.0033	-34	c.379 others(51): Show c.379-5652_379-5619delATATATATATATATATATATATTTTTTT TTTTTT		BAG4	ENSG00000156735.11	transcript	ENST00000287322.5	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr8	TogoVar
BAHCC1_chr17_81390457_81471331	81430984	CCGGCGTG others(27): Show CCGGCGTGGGGGTGGAGGGGACAGCGTGGGGGTCT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01074.hp2 HG02559.hp1 others(7): Show HG00639.hp1 HG01074.hp2 HG02559.hp1 HG02723.hp2 HG02886.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG03540.hp2 NA19043.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0015	a0001c0007 a0001c0101 a0002c0001 others(2): Show a0001c0007 a0001c0101 a0002c0001 a0006c0020 a0015c0014	a0001c0007t0015 a0001c0101t0010 a0002c0001t0001 others(2): Show a0001c0007t0015 a0001c0101t0010 a0002c0001t0001 a0006c0020t0002 a0015c0014t0001	a0001c0007t0015g0275 a0001c0101t0010g0020 a0002c0001t0001g0274 others(7): Show a0001c0007t0015g0275 a0001c0101t0010g0020 a0002c0001t0001g0274 a0002c0001t0001g0276 a0002c0001t0001g0324 a0002c0001t0001g0326 a0002c0001t0001g0327 a0006c0020t0002g0238 a0006c0020t0002g0325 a0015c0014t0001g0243	10	332	0.0301	-34	c.358 others(51): Show c.358+4039_358+4072delTCGGCGTGGGGGTGGAGGGGACAGCGTG GGGGTC		BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	3/27					INFO_REALIGN_3_PRIME	chr17	TogoVar
BAHCC1_chr17_81390457_81471331	81431018	TCGGCGTG others(27): Show TCGGCGTGGGGGTGGAGGGGACAGCGTGGGGGTCC	T T	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0257 a0007c0008t0001g0257	1	332	0.0030	-34	c.358 others(51): Show c.358+4070_358+4103delGTCCCGGCGTGGGGGTGGAGGGGACAGC GTGGGG		BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	3/27					INFO_REALIGN_3_PRIME	chr17	TogoVar
BANF2_chr20_17694966_17740871	17705048	TTGGCCAG others(27): Show TTGGCCAGGCCTGGTCATGTGTGTTGTTACCTCAC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp2 HG00733.hp2 others(45): Show HG00323.hp2 HG00438.hp2 HG00733.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01099.hp1 HG01109.hp1 HG01123.hp1 HG01243.hp2 HG01256.hp2 HG01258.hp2 HG01884.hp1 HG01891.hp1 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02615.hp1 HG02683.hp1 HG02735.hp1 HG02922.hp1 HG02965.hp2 HG02976.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03516.hp1 HG03831.hp1 HG04204.hp1 NA18906.hp1 NA18906.hp2 NA18950.hp2 NA18959.hp1 NA18991.hp1 NA18994.hp2 NA19030.hp1 NA19030.hp2 NA19057.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 a0002c0002t0002 a0003c0005t0002	a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0002g0004 others(32): Show a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0002g0004 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0105 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0003t0002g0026 a0001c0003t0002g0092 a0001c0003t0002g0093 a0001c0003t0002g0094 a0001c0003t0002g0095 a0001c0003t0002g0096 a0001c0003t0002g0097 a0001c0003t0002g0099 a0002c0002t0002g0027 a0002c0002t0002g0028 a0002c0002t0002g0098 a0002c0002t0002g0100 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0109 a0002c0002t0002g0110 a0002c0002t0002g0111 a0003c0005t0002g0101 a0003c0005t0002g0102 a0003c0005t0002g0108	48	400	0.1200	-34	c.-16 others(53): Show c.-167+5061_-167+5094delCTGGCCAGGCCTGGTCATGTGTGTTG TTACCTCA		BANF2	ENSG00000125888.15	transcript	ENST00000246090.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr20	TogoVar
BANP_chr16_87946434_88082316	88019588	CGGCGTGC others(27): Show CGGCGTGCGGGATCTCAGCGTGCGGGGGGCGTCCG	C C	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0336 a0002c0003t0003g0336	1	352	0.0028	-34	c.895 others(49): Show c.895+952_895+985delTCCGGGCGTGCGGGATCTCAGCGTGCGGGG GGCG		BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	7/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
BARD1_chr2_214720646_214814683	214751103	GTGTGTGT others(27): Show GTGTGTGTGTGTGTGTATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01256.hp1 NA20300.hp2 NA21309.hp2 HG01256.hp1 NA20300.hp2 NA21309.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0013 a0004c0007t0013	a0004c0007t0013g0264 a0004c0007t0013g0268 a0004c0007t0013g0269 a0004c0007t0013g0264 a0004c0007t0013g0268 a0004c0007t0013g0269	3	362	0.0083	-34	c.167 others(53): Show c.1677+1310_1677+1343delTATATATATATATATATATACACACA CACACACA		BARD1	ENSG00000138376.11	transcript	ENST00000260947.9	protein_coding	7/10						chr2	TogoVar
BCAS3_chr17_60672851_61397831	60754710	CACACACA others(27): Show CACACACACACACACACACACACACACACACAGAG	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01099.hp2 HG01256.hp1 others(11): Show HG00639.hp2 HG01099.hp2 HG01256.hp1 HG02083.hp1 HG02083.hp2 HG02486.hp1 HG02559.hp1 HG03195.hp1 HG03453.hp1 NA18951.hp1 NA18951.hp2 NA19043.hp1 NA19043.hp2 NA20300.hp2	a0002 a0003 a0002 a0003	a0002c0003 a0003c0001 a0002c0003 a0003c0001	a0002c0003t0001 a0002c0003t0002 a0003c0001t0001 a0002c0003t0001 a0002c0003t0002 a0003c0001t0001	a0002c0003t0001g0037 a0002c0003t0001g0038 a0002c0003t0001g0040 others(11): Show a0002c0003t0001g0037 a0002c0003t0001g0038 a0002c0003t0001g0040 a0002c0003t0001g0041 a0002c0003t0002g0036 a0002c0003t0002g0039 a0003c0001t0001g0003 a0003c0001t0001g0005 a0003c0001t0001g0006 a0003c0001t0001g0008 a0003c0001t0001g0009 a0003c0001t0001g0010 a0003c0001t0001g0011 a0003c0001t0001g0012	14	74	0.1892	-34	c.403 others(51): Show c.403+7432_403+7465delACACACACACACACACACACACACACAC ACAGAG		BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	6/23						chr17	TogoVar
BCL11A_chr2_60452194_60558654	60507345	AAGGGAAG others(27): Show AAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGG	A A	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03139.hp2 HG03225.hp2 HG03098.hp1 HG03139.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0016 a0001c0001t0045 a0001c0001t0013 a0001c0001t0016 a0001c0001t0045	a0001c0001t0013g0253 a0001c0001t0016g0254 a0001c0001t0045g0114 a0001c0001t0013g0253 a0001c0001t0016g0254 a0001c0001t0045g0114	3	262	0.0115	-34	c.386 others(53): Show c.386-38546_386-38513delCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCT		BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	2/3						chr2	TogoVar
BCL11A_chr2_60452194_60558654	60538826	CACTGTAC others(27): Show CACTGTACTCCCTTTGTTCAAATCACATACTTTTA	C C	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0199 a0001c0003t0009g0199	1	262	0.0038	-34	c.385 others(51): Show c.385+7111_385+7144delTAAAAGTATGTGATTTGAACAAAGGGAG TACAGT		BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	2/3						chr2	TogoVar
BCL11B_chr14_99164287_99277197	99199671	TGTGTGTG others(27): Show TGTGTGTGTGTGTGCGCGCGCGCGCGCACGTGCAC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01069.hp2 HG01071.hp1 others(9): Show HG00423.hp2 HG01069.hp2 HG01071.hp1 HG01169.hp2 HG02071.hp1 HG02523.hp2 HG02602.hp1 HG03490.hp2 HG03492.hp1 NA18952.hp2 NA19066.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004	a0001c0001t0001g0164 a0001c0001t0001g0224 a0001c0001t0001g0266 others(9): Show a0001c0001t0001g0164 a0001c0001t0001g0224 a0001c0001t0001g0266 a0001c0001t0002g0058 a0001c0001t0005g0074 a0001c0001t0006g0315 a0001c0001t0006g0317 a0001c0001t0006g0324 a0001c0001t0006g0332 a0001c0002t0001g0237 a0001c0002t0003g0265 a0001c0002t0004g0050	12	350	0.0343	-34	c.641 others(53): Show c.641-23510_641-23477delGTGCACGTGCGCGCGCGCGCGCACAC ACACACAC		BCL11B	ENSG00000127152.18	transcript	ENST00000357195.8	protein_coding	3/3						chr14	TogoVar
BCL2L13_chr22_17633757_17735855	17715146	ATATATAT others(27): Show ATATATATATATATATATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0003 a0001c0002t0012g0003	1	306	0.0033	-34	c.601 others(53): Show c.601-11529_601-11496delATATATATATATATATATATATATTT TTTTTTTT		BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2L13_chr22_17633757_17735855	17715148	ATATATAT others(27): Show ATATATATATATATATATATATATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA20129.hp2 HG02055.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0042 a0001c0002t0012 a0001c0002t0042	a0001c0002t0012g0305 a0001c0002t0042g0005 a0001c0002t0012g0305 a0001c0002t0042g0005	2	306	0.0065	-34	c.601 others(53): Show c.601-11527_601-11494delATATATATATATATATATATATTTTT TTTTTTTT		BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2L13_chr22_17633757_17735855	17715150	ATATATAT others(27): Show ATATATATATATATATATATATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0306 a0001c0002t0012g0306	1	306	0.0033	-34	c.601 others(53): Show c.601-11525_601-11492delATATATATATATATATATATTTTTTT TTTTTTTT		BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
BCO1_chr16_81233689_81296142	81235167	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00733.hp1 HG01074.hp2 others(9): Show HG00280.hp2 HG00733.hp1 HG01074.hp2 HG01168.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG02145.hp1 HG02280.hp1 HG02572.hp1 HG02622.hp1 HG02965.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0008c0013	a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 a0008c0013t0001	a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0002t0001g0172 others(9): Show a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0002t0001g0172 a0001c0005t0001g0020 a0001c0005t0001g0021 a0001c0005t0001g0022 a0001c0005t0001g0023 a0001c0005t0001g0024 a0001c0005t0001g0025 a0001c0005t0001g0026 a0001c0005t0001g0027 a0008c0013t0001g0029	12	402	0.0299	-34	c.-37 others(45): Show c.-3741_-3708delATATATATATATATATATATATATATATATATAA		BCO1	ENSG00000135697.10	transcript	ENST00000258168.7	protein_coding					3521		chr16	TogoVar
BCOR_chrX_40046251_40102958	40046522	TTATATAT others(27): Show TTATATATATAAATATATATATATATATGTATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0142 a0001c0003t0001g0142	1	257	0.0039	-34	c.55 others(45): Show c.5553_*5586delTATATACATATATATATATATATTTATATATATA		BCOR	ENSG00000183337.18	transcript	ENST00000378444.9	protein_coding					4728		chrX	TogoVar
BCR_chr22_23175509_23323037	23206869	ACCATCCA others(27): Show ACCATCCATTTAACTATTCTTTATTCATCATCCAT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG02257.hp2 others(16): Show HG01167.hp2 HG01169.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02486.hp1 HG02647.hp2 HG02723.hp1 HG02818.hp1 HG02922.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp2 HG03540.hp1 NA18522.hp1 NA20300.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0009 a0001c0012	a0001c0001t0049 a0001c0001t0051 a0001c0001t0162 others(13): Show a0001c0001t0049 a0001c0001t0051 a0001c0001t0162 a0001c0001t0163 a0001c0002t0024 a0001c0002t0164 a0001c0004t0109 a0001c0004t0121 a0001c0005t0026 a0001c0005t0105 a0001c0005t0106 a0001c0005t0107 a0001c0005t0122 a0001c0005t0146 a0001c0009t0115 a0001c0012t0012	a0001c0001t0049g0271 a0001c0001t0051g0259 a0001c0001t0162g0130 others(16): Show a0001c0001t0049g0271 a0001c0001t0051g0259 a0001c0001t0162g0130 a0001c0001t0163g0129 a0001c0002t0024g0204 a0001c0002t0024g0207 a0001c0002t0164g0128 a0001c0004t0109g0273 a0001c0004t0121g0094 a0001c0005t0026g0278 a0001c0005t0105g0092 a0001c0005t0106g0095 a0001c0005t0107g0274 a0001c0005t0122g0088 a0001c0005t0146g0091 a0001c0009t0115g0272 a0001c0012t0012g0089 a0001c0012t0012g0090 a0001c0012t0012g0093	19	296	0.0642	-34	c.127 others(55): Show c.1279+24634_1279+24667delTCCATTTAACTATTCTTTATTCAT CATCCATCCA		BCR	ENSG00000186716.21	transcript	ENST00000305877.13	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr22	TogoVar
BECN2_chr1_241952767_241964062	241957039	CTGTGTGT others(27): Show CTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01109.hp2 HG01243.hp2 others(9): Show HG01074.hp2 HG01109.hp2 HG01243.hp2 HG01361.hp1 HG01433.hp2 HG01981.hp2 HG02970.hp1 HG03209.hp1 HG03239.hp2 HG03540.hp2 HG03579.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	12	444	0.0270	-34	c.-72 others(43): Show c.-727_-694delTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTG		BECN2	ENSG00000196289.7	transcript	ENST00000419583.2	protein_coding					727		chr1	TogoVar
BEGAIN_chr14_100532147_100592417	100546339	ACCCCGGC others(27): Show ACCCCGGCCCTCGCCCCGCCCCGGCCCTCGCCCCG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00733.hp1 HG01081.hp1 others(20): Show HG00642.hp1 HG00733.hp1 HG01081.hp1 HG02055.hp1 HG02486.hp2 HG02572.hp2 HG02630.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03453.hp1 HG03471.hp1 HG03579.hp2 HG03942.hp2 NA18906.hp2 NA19009.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0008	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0003t0006 a0001c0004t0002 a0001c0004t0017 a0001c0006t0001 a0001c0008t0001	a0001c0001t0001g0062 a0001c0001t0001g0266 a0001c0002t0001g0230 others(20): Show a0001c0001t0001g0062 a0001c0001t0001g0266 a0001c0002t0001g0230 a0001c0002t0001g0233 a0001c0002t0001g0235 a0001c0002t0001g0264 a0001c0003t0001g0054 a0001c0003t0001g0140 a0001c0003t0001g0174 a0001c0003t0001g0177 a0001c0003t0001g0202 a0001c0003t0001g0274 a0001c0003t0001g0292 a0001c0003t0001g0294 a0001c0003t0006g0304 a0001c0004t0002g0045 a0001c0004t0002g0170 a0001c0004t0002g0268 a0001c0004t0002g0288 a0001c0004t0017g0305 a0001c0006t0001g0204 a0001c0008t0001g0066 a0001c0008t0001g0167	23	326	0.0706	-34	c.233 others(49): Show c.233+128_233+161delCGGGGCGAGGGCCGGGGCGGGGCGAGGGCC GGGG		BEGAIN	ENSG00000183092.18	transcript	ENST00000554140.3	protein_coding	3/6						chr14	TogoVar
BEND3_chr6_107060182_107120515	107073197	GTATGTAT others(27): Show GTATGTATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02015.hp2 HG02717.hp1 others(3): Show HG01099.hp2 HG02015.hp2 HG02717.hp1 HG03209.hp1 NA18957.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0004t0052	a0001c0001t0002g0055 a0001c0001t0002g0185 a0001c0001t0005g0115 others(3): Show a0001c0001t0002g0055 a0001c0001t0002g0185 a0001c0001t0005g0115 a0001c0001t0010g0023 a0001c0001t0010g0337 a0001c0004t0052g0102	6	368	0.0163	-34	c.241 others(51): Show c.241-2281_241-2248delTATATATATATATATATATATATATATA TACATA		BEND3	ENSG00000178409.14	transcript	ENST00000369042.6	protein_coding	3/3						chr6	TogoVar
BFSP2_chr3_133395056_133480208	133446570	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02280.hp1 HG00639.hp2 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0271 a0001c0001t0001g0138 a0001c0001t0001g0271	2	276	0.0073	-34	c.490 others(49): Show c.490-710_490-677delTATATATATATATATATATATATATATATA TATA		BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr3	TogoVar
BHLHA15_chr7_98206439_98220457	98211711	CCCCATGT others(27): Show CCCCATGTCCGCAGCGGTTCTGGCCCCAGTGCTGT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp1 HG00609.hp2 others(79): Show HG00438.hp2 HG00544.hp1 HG00609.hp2 HG00673.hp1 HG01109.hp1 HG01123.hp2 HG01257.hp1 HG01346.hp1 HG01358.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01993.hp2 HG02004.hp1 HG02055.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02135.hp1 HG02155.hp2 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02683.hp2 HG03704.hp2 HG04115.hp2 NA18612.hp2 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp2 NA18947.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18960.hp2 NA18963.hp1 NA18965.hp2 NA18967.hp2 NA18970.hp1 NA18971.hp1 NA18973.hp2 NA18974.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18994.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19057.hp2 NA19060.hp2 NA19062.hp2 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0017 others(3): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0017 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027	a0001c0001t0003g0004 a0001c0001t0007g0004 a0001c0001t0017g0004 others(3): Show a0001c0001t0003g0004 a0001c0001t0007g0004 a0001c0001t0017g0004 a0001c0001t0025g0004 a0001c0001t0026g0004 a0001c0001t0027g0004	82	456	0.1798	-34	c.-55 others(49): Show c.-55+251_-55+284delATGTCCGCAGCGGTTCTGGCCCCAGTGCTG TCCC		BHLHA15	ENSG00000180535.4	transcript	ENST00000609256.2	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr7	TogoVar
BHMT2_chr5_79064767_79095069	79090531	TAGCCACT others(27): Show TAGCCACTTTACCCATAATACACAACCCCACCCTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0001 a0001c0002t0016g0001	1	390	0.0026	-34	c.19 others(45): Show c.1958_*1991delAGCCACTTTACCCATAATACACAACCCCACCCTG		BHMT2	ENSG00000132840.10	transcript	ENST00000255192.8	protein_coding					463		chr5	TogoVar
BICC1_chr10_58507872_58836435	58732371	GTGTGTAT others(27): Show GTGTGTATGTATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG02717.hp1 HG02895.hp1 others(2): Show HG01256.hp1 HG02717.hp1 HG02895.hp1 HG02897.hp2 HG04115.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 others(1): Show a0001c0001 a0002c0002 a0002c0003 a0002c0006	a0001c0001t0002 a0002c0002t0004 a0002c0003t0019 others(1): Show a0001c0001t0002 a0002c0002t0004 a0002c0003t0019 a0002c0006t0039	a0001c0001t0002g0041 a0002c0002t0004g0020 a0002c0003t0019g0115 others(2): Show a0001c0001t0002g0041 a0002c0002t0004g0020 a0002c0003t0019g0115 a0002c0003t0019g0116 a0002c0006t0039g0110	5	132	0.0379	-34	c.307 others(53): Show c.307+30230_307+30263delGTGTATGTATATATATATATATATAT ATATATAT		BICC1	ENSG00000122870.12	transcript	ENST00000373886.8	protein_coding	3/20					INFO_REALIGN_3_PRIME	chr10	TogoVar
BICD1_chr12_32101847_32388633	32348723	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0264	1	290	0.0035	-34	c.276 others(53): Show c.2764+9767_2764+9800delATATATATATATATATATATATATAT ATATATAT		BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	8/9					INFO_REALIGN_3_PRIME	chr12	TogoVar
BICRAL_chr6_42777052_42873556	42845195	GTTTTTTT others(27): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18951.hp1 NA18952.hp1 others(8): Show NA18946.hp1 NA18951.hp1 NA18952.hp1 NA18964.hp1 NA18983.hp2 NA18992.hp2 NA18994.hp2 NA19002.hp2 NA19054.hp2 NA19056.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0109 others(8): Show a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0109 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0170 a0001c0001t0001g0175 a0001c0001t0001g0216 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0264	11	270	0.0407	-34	c.184 others(53): Show c.1840-6877_1840-6844delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT		BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding	6/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
BID_chr22_17729138_17779469	17756409	TCTCTTTC others(27): Show TCTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0164 a0001c0003t0001g0164	1	362	0.0028	-34	c.-58 others(51): Show c.-58-6269_-58-6236delGAAAGAAAGAAGAAAGAAAGAAAGAAAG AAAGAG		BID	ENSG00000015475.19	transcript	ENST00000622694.5	protein_coding	1/5						chr22	TogoVar
BID_chr22_17729138_17779469	17756454	TCTTTCTT others(27): Show TCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02572.hp2 HG02647.hp2 HG02559.hp2 HG02572.hp2 HG02647.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0008 a0002c0002t0001 a0001c0001t0008 a0002c0002t0001	a0001c0001t0008g0323 a0001c0001t0008g0324 a0002c0002t0001g0165 a0001c0001t0008g0323 a0001c0001t0008g0324 a0002c0002t0001g0165	3	362	0.0083	-34	c.-58 others(51): Show c.-58-6314_-58-6281delGAAAGAAAGAAAAGAAAGAAAGAAAGAA AGAAAG		BID	ENSG00000015475.19	transcript	ENST00000622694.5	protein_coding	1/5						chr22	TogoVar
BIN2_chr12_51276038_51329174	51295577	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01981.hp1 NA18978.hp1 NA19002.hp2 HG01981.hp1 NA18978.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0002 a0001c0009t0002 a0001c0001t0002 a0001c0009t0002	a0001c0001t0002g0184 a0001c0001t0002g0196 a0001c0009t0002g0169 a0001c0001t0002g0184 a0001c0001t0002g0196 a0001c0009t0002g0169	3	400	0.0075	-34	c.761 others(49): Show c.761+185_761+218delATATATATATATATATATATATATATATAT ATAT		BIN2	ENSG00000110934.13	transcript	ENST00000615107.6	protein_coding	9/12						chr12	TogoVar
BLNK_chr10_96184171_96276569	96213592	GGTGTGTT others(27): Show GGTGTGTTTTAGGAAGAGGAGGTGCTTGTAAGGCA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01069.hp2 HG01071.hp1 others(20): Show HG00639.hp2 HG01069.hp2 HG01071.hp1 HG01261.hp1 HG02145.hp2 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG03041.hp1 HG03098.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03540.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(12): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0001t0044 a0001c0002t0034 a0001c0002t0036 a0001c0003t0008 a0001c0003t0012 a0001c0003t0013 a0001c0003t0024 a0001c0003t0047 a0001c0004t0001 a0001c0004t0008 a0001c0004t0029 a0001c0008t0013	a0001c0001t0001g0005 a0001c0001t0001g0022 a0001c0001t0001g0029 others(19): Show a0001c0001t0001g0005 a0001c0001t0001g0022 a0001c0001t0001g0029 a0001c0001t0001g0289 a0001c0001t0007g0275 a0001c0001t0008g0290 a0001c0001t0044g0312 a0001c0002t0034g0195 a0001c0002t0036g0023 a0001c0003t0008g0017 a0001c0003t0012g0013 a0001c0003t0013g0012 a0001c0003t0013g0020 a0001c0003t0013g0040 a0001c0003t0024g0021 a0001c0003t0047g0306 a0001c0004t0001g0018 a0001c0004t0001g0019 a0001c0004t0008g0063 a0001c0004t0008g0064 a0001c0004t0029g0286 a0001c0008t0013g0293	23	322	0.0714	-34	c.676 others(51): Show c.676+1695_676+1728delTGCCTTACAAGCACCTCCTCTTCCTAAA ACACAC		BLNK	ENSG00000095585.18	transcript	ENST00000224337.10	protein_coding	8/16						chr10	TogoVar
BLNK_chr10_96184171_96276569	96213615	GCTTGTAA others(27): Show GCTTGTAAGGCAGTGTGTTTTAGGAAGAGGAGGTC	G G	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG03486.hp2 HG04184.hp2 others(3): Show HG01192.hp2 HG03486.hp2 HG04184.hp2 NA18522.hp1 NA19009.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007	a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 others(3): Show a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0003t0009 a0001c0004t0040 a0001c0007t0026	a0001c0001t0004g0134 a0001c0002t0001g0131 a0001c0002t0002g0147 others(3): Show a0001c0001t0004g0134 a0001c0002t0001g0131 a0001c0002t0002g0147 a0001c0003t0009g0291 a0001c0004t0040g0049 a0001c0007t0026g0036	6	322	0.0186	-34	c.676 others(51): Show c.676+1672_676+1705delGACCTCCTCTTCCTAAAACACACTGCCT TACAAG		BLNK	ENSG00000095585.18	transcript	ENST00000224337.10	protein_coding	8/16						chr10	TogoVar
BMAL1_chr11_13272790_13392266	13284180	GTATATAT others(27): Show GTATATATATATATGTGTGTATATATATATGTGTA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00438.hp2 others(50): Show HG00140.hp1 HG00280.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00639.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01106.hp2 HG01175.hp1 HG01255.hp1 HG01258.hp2 HG01496.hp2 HG01517.hp1 HG01928.hp2 HG01934.hp2 HG01981.hp2 HG02056.hp2 HG02080.hp1 HG02083.hp2 HG02129.hp2 HG02258.hp1 HG02486.hp2 HG02523.hp2 HG02630.hp1 HG02683.hp1 HG02698.hp1 HG03195.hp2 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp2 HG04199.hp1 NA18949.hp1 NA18951.hp1 NA18952.hp1 NA18972.hp1 NA18990.hp1 NA18992.hp1 NA19005.hp1 NA19056.hp1 NA19057.hp1 NA19084.hp2 NA19088.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0001t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0004 a0001c0001t0001g0119 a0001c0001t0001g0217 others(50): Show a0001c0001t0001g0004 a0001c0001t0001g0119 a0001c0001t0001g0217 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0281 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0003g0238 a0001c0001t0003g0249 a0001c0002t0001g0265 a0001c0002t0001g0266	53	314	0.1688	-34	c.-26 others(53): Show c.-263+6277_-263+6310delATATATATATGTGTATATATATATAT ATGTGTGT		BMAL1	ENSG00000133794.20	transcript	ENST00000403290.6	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
BMX_chrX_15495807_15561519	15498543	TCTCTCTC others(27): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG03579.hp1 HG01070.hp2 HG01071.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0183 a0001c0001t0001g0014 a0001c0001t0001g0183	3	216	0.0139	-34	c.-24 others(45): Show c.-2406_-2373delCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCC		BMX	ENSG00000102010.15	transcript	ENST00000348343.11	protein_coding					2263		chrX	TogoVar
BNIP5_chr6_36310761_36341888	36324575	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01975.hp1 HG02258.hp1 others(10): Show HG00642.hp1 HG01975.hp1 HG02258.hp1 HG02622.hp1 HG02809.hp1 HG02896.hp1 HG03490.hp1 HG03492.hp1 HG03927.hp2 HG04115.hp2 NA19005.hp1 NA19081.hp1 NA19085.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0004c0004t0001 a0004c0004t0002	a0001c0001t0001g0023 a0001c0001t0001g0042 a0001c0001t0001g0192 others(7): Show a0001c0001t0001g0023 a0001c0001t0001g0042 a0001c0001t0001g0192 a0001c0001t0001g0262 a0001c0001t0001g0323 a0001c0001t0002g0103 a0002c0002t0001g0030 a0002c0002t0001g0191 a0004c0004t0001g0157 a0004c0004t0002g0100	13	424	0.0307	-34	c.116 others(51): Show c.1169-419_1169-386delTATATATATATATATATATATATATATA TATATA		BNIP5	ENSG00000189325.7	transcript	ENST00000437635.3	protein_coding	6/11						chr6	TogoVar
BOLA2B_chr16_30187932_30198666	30190144	ATATATAT others(27): Show ATATATATTTTAATATATAAATATATTATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG01099.hp2 others(6): Show HG00280.hp1 HG00280.hp2 HG01099.hp2 HG01175.hp1 HG02486.hp1 HG02809.hp2 HG03041.hp1 HG03669.hp1 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	9	254	0.0354	-34	c.27 others(45): Show c.2797_*2830delATATATATAATATATTTATATATTAAAATATATA		BOLA2B	ENSG00000169627.9	transcript	ENST00000651894.2	protein_coding					2787		chr16	TogoVar
BOLL_chr2_197721890_197790319	197784391	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	328	0.0031	-34	c.-16 others(49): Show c.-16+631_-16+664delATATATATATATATATATATATATATATAT ATAT		BOLL	ENSG00000152430.19	transcript	ENST00000392296.9	protein_coding	1/10						chr2	TogoVar
BPIFC_chr22_32408845_32469446	32424596	TTCTTCTC others(27): Show TTCTTCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0012 a0012	a0012c0011 a0012c0011	a0012c0011t0003 a0012c0011t0003	a0012c0011t0003g0008 a0012c0011t0003g0008	1	422	0.0024	-34	c.121 others(53): Show c.1218-5226_1218-5193delGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGAAGA		BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16						chr22	TogoVar
BPIFC_chr22_32408845_32469446	32424658	TCTTCTTC others(27): Show TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0046 a0004c0004t0001g0046	1	422	0.0024	-34	c.121 others(53): Show c.1218-5288_1218-5255delGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAG		BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16						chr22	TogoVar
BPIFC_chr22_32408845_32469446	32424670	TCTTCTTC others(27): Show TCTTCTTCTTCTTCTTCTTCTTCCTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA19058.hp1 NA18959.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0145 a0001c0001t0001g0103 a0001c0001t0001g0145	2	422	0.0047	-34	c.121 others(53): Show c.1218-5300_1218-5267delGAAGAAGAAGAGGAAGAAGAAGAAGA AGAAGAAG		BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16						chr22	TogoVar
BRDT_chr1_91944401_92019421	91945301	TATATATA others(27): Show TATATATATATATATATATATATATATATATATTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0126 a0002c0002t0002g0126	1	318	0.0031	-34	c.-44 others(45): Show c.-4418_-4385delATATATATATATATATATATATATATATATATTA		BRDT	ENSG00000137948.19	transcript	ENST00000399546.7	protein_coding					4099		chr1	TogoVar
BRI3_chr7_98276686_98296545	98281908	CGCCGCCG others(27): Show CGCCGCCGCCCTACCCCTACCTCGTCACAGGTGGG	C C	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA19086.hp1 NA19086.hp1	a0000 a0000	a0000c0006 a0000c0006	a0000c0006t0002 a0000c0006t0002	a0000c0006t0002g0050 a0000c0006t0002g0050	1	414	0.0024	-34	c.114 others(43): Show c.114_142+5delGCCGCCGCCCTACCCCTACCTCGTCACAGGTGGG	p.Pro others(4): Show p.Pro39fs	BRI3	ENSG00000164713.10	transcript	ENST00000297290.4	protein_coding	1/3	224/790	114/378	38/125			chr7	TogoVar
BRIP1_chr17_61674139_61868528	61772176	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA20129.hp2 HG03041.hp1 NA20129.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0020 a0002c0003t0029 a0002c0003t0020 a0002c0003t0029	a0002c0003t0020g0081 a0002c0003t0029g0165 a0002c0003t0020g0081 a0002c0003t0029g0165	2	266	0.0075	-34	c.209 others(53): Show c.2097+4191_2097+4224delTTATATATATATATATATATATATAT ATATATAT		BRIP1	ENSG00000136492.10	transcript	ENST00000259008.7	protein_coding	14/19						chr17	TogoVar
BROX_chr1_222707564_222740187	222736671	GTGGGGCT others(27): Show GTGGGGCTTTGGTTCTCTCCTCTCACCAGGGGTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	386	0.0026	-34	c.39 others(45): Show c.3958_*3991delTGGGGCTTTGGTTCTCTCCTCTCACCAGGGGTTT		BROX	ENSG00000162819.12	transcript	ENST00000340934.10	protein_coding					1485		chr1	TogoVar
BRWD1_chr21_39180482_39318632	39217017	ATATATAT others(27): Show ATATATATATATATATATAAATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02738.hp1 HG02886.hp1 others(2): Show HG01070.hp1 HG02738.hp1 HG02886.hp1 NA18982.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0018 a0001c0001t0002 a0001c0001t0018	a0001c0001t0002g0050 a0001c0001t0002g0058 a0001c0001t0002g0060 others(2): Show a0001c0001t0002g0050 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0079 a0001c0001t0018g0052	5	338	0.0148	-34	c.365 others(53): Show c.3659+1101_3659+1134delAATATATATATATATTTATATATATA TATATATA		BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	31/40						chr21	TogoVar
BSPH1_chr19_47963046_47997170	47963898	TTTTCTTT others(27): Show TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0407 a0002c0003t0001g0407	1	444	0.0023	-34	c.42 others(45): Show c.4280_*4313delGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA		BSPH1	ENSG00000188334.3	transcript	ENST00000344839.3	protein_coding					4147		chr19	TogoVar

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Search Results (Total: 3456 hits)