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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
BEND5_chr1_48722519_48781891	48769526	A A	AACACACA others(3): Show AACACACACAC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02622.hp2 HG03688.hp1 others(5): Show HG02451.hp1 HG02622.hp2 HG03688.hp1 HG03834.hp1 HG03834.hp2 HG04228.hp2 NA18968.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 others(5): Show a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0002g0097 a0001c0002t0001g0219 a0001c0002t0002g0099	8	342	0.0234	10	c.226 others(27): Show c.226+7070_226+7079dupGTGTGTGTGT	BEND5	ENSG00000162373.13	transcript	ENST00000371833.4	protein_coding	1/5			chr1	TogoVar
BEND6_chr6_56950107_57032346	56965676	T T	TTATATAT others(3): Show TTATATATATA	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	204	0.0049	10	c.-10 others(31): Show c.-101+10234_-101+10243dupATATATATAT	BEND6	ENSG00000151917.18	transcript	ENST00000370746.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
BEND7_chr10_13436088_13534014	13470431	T T	TGTGACAA others(3): Show TGTGACAAAAC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp1 HG03195.hp1 others(1): Show HG01243.hp2 HG01884.hp1 HG03195.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0003t0009 a0001c0001t0001 a0001c0003t0001 a0001c0003t0009	a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0003t0001g0120 others(1): Show a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0003t0001g0120 a0001c0003t0009g0274	4	300	0.0133	10	c.106 others(31): Show c.1063+10467_1063+10468insGTTTTGTCAC	BEND7	ENSG00000165626.19	transcript	ENST00000466271.3	protein_coding	6/8			chr10	TogoVar
BEND7_chr10_13436088_13534014	13487738	G G	GCCAAGCA others(3): Show GCCAAGCAAAT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	300	0.0033	10	c.837 others(27): Show c.837+4872_837+4873insATTTGCTTGG	BEND7	ENSG00000165626.19	transcript	ENST00000466271.3	protein_coding	5/8			chr10	TogoVar
BEST3_chr12_69648609_69704303	69680310	C C	CTTCTTTT others(3): Show CTTCTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0006 a0001c0006t0006	a0001c0006t0006g0184 a0001c0006t0006g0184	1	366	0.0027	10	c.482 others(27): Show c.482-1418_482-1417insAAAAAAAGAA	BEST3	ENSG00000127325.19	transcript	ENST00000330891.10	protein_coding	4/9			chr12	TogoVar
BEST3_chr12_69648609_69704303	69684981	G G	GTTCTATT others(3): Show GTTCTATTCTA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00408.hp1 others(58): Show HG00140.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp2 HG00558.hp1 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG00741.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01243.hp2 HG01258.hp1 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01943.hp1 HG01978.hp2 HG02056.hp2 HG02080.hp1 HG02135.hp2 HG02165.hp2 HG02559.hp2 HG02615.hp1 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02965.hp1 HG02976.hp1 HG03098.hp2 HG03130.hp1 HG03453.hp2 HG03491.hp1 HG03540.hp1 HG03704.hp2 HG03834.hp1 HG04228.hp2 NA18954.hp1 NA18965.hp1 NA18974.hp1 NA18998.hp2 NA19001.hp1 NA19005.hp1 NA19043.hp1 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19066.hp1 NA19068.hp2 NA20129.hp2 NA20752.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0009	a0001c0001 a0001c0004 a0001c0006 others(4): Show a0001c0001 a0001c0004 a0001c0006 a0002c0002 a0003c0003 a0004c0005 a0009c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0014 a0001c0004t0001 a0001c0006t0006 a0002c0002t0002 a0003c0003t0001 a0004c0005t0005 a0009c0009t0001	a0001c0001t0001g0005 a0001c0001t0001g0027 a0001c0001t0001g0030 others(51): Show a0001c0001t0001g0005 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0101 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0119 a0001c0001t0001g0126 a0001c0001t0001g0134 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0163 a0001c0001t0001g0173 a0001c0001t0001g0178 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0235 a0001c0001t0001g0282 a0001c0001t0002g0036 a0001c0001t0002g0255 a0001c0001t0002g0262 a0001c0001t0002g0281 a0001c0001t0002g0284 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0296 a0001c0001t0002g0306 a0001c0001t0002g0310 a0001c0001t0003g0031 a0001c0001t0003g0187 a0001c0001t0003g0188 a0001c0001t0004g0046 a0001c0001t0004g0047 a0001c0001t0004g0048 a0001c0001t0004g0049 a0001c0001t0004g0050 a0001c0001t0004g0051 a0001c0001t0004g0052 a0001c0001t0005g0203 a0001c0001t0007g0236 a0001c0001t0014g0297 a0001c0004t0001g0015 a0001c0004t0001g0062 a0001c0006t0006g0238 a0002c0002t0002g0241 a0002c0002t0002g0249 a0002c0002t0002g0250 a0002c0002t0002g0252 a0002c0002t0002g0253 a0003c0003t0001g0283 a0004c0005t0005g0215 a0009c0009t0001g0108	61	366	0.1667	10	c.482 others(27): Show c.482-6098_482-6089dupTAGAATAGAA	BEST3	ENSG00000127325.19	transcript	ENST00000330891.10	protein_coding	4/9			chr12	TogoVar
BEST3_chr12_69648609_69704303	69686786	A A	AAAAAAAA others(3): Show AAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp2 HG02559.hp2 others(3): Show HG01884.hp2 HG02055.hp2 HG02559.hp2 HG02630.hp2 HG02809.hp1 HG02922.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0004c0005 a0005c0013 a0001c0001 a0004c0005 a0005c0013	a0001c0001t0007 a0004c0005t0005 a0005c0013t0001 a0001c0001t0007 a0004c0005t0005 a0005c0013t0001	a0001c0001t0007g0236 a0004c0005t0005g0206 a0004c0005t0005g0213 others(3): Show a0001c0001t0007g0236 a0004c0005t0005g0206 a0004c0005t0005g0213 a0004c0005t0005g0214 a0004c0005t0005g0215 a0005c0013t0001g0212	6	366	0.0164	10	c.481 others(27): Show c.481+6887_481+6888insCTTTTTTTTT	BEST3	ENSG00000127325.19	transcript	ENST00000330891.10	protein_coding	4/9			chr12	TogoVar
BEX1_chrX_103057651_103069171	103059972	A A	ATCTCTCT others(3): Show ATCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0036 a0001c0001t0003g0036	1	339	0.0030	10	c.29 others(21): Show c.2924_*2925insGAGAGAGAGA	BEX1	ENSG00000133169.6	transcript	ENST00000372728.4	protein_coding		2678		chrX	TogoVar
BEX1_chrX_103057651_103069171	103060006	C C	CTATATAT others(3): Show CTATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	339	0.0030	10	c.28 others(21): Show c.2890_*2891insTATATATATA	BEX1	ENSG00000133169.6	transcript	ENST00000372728.4	protein_coding		2644		chrX	TogoVar
BEX1_chrX_103057651_103069171	103060008	C C	CTATATAT others(3): Show CTATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	339	0.0030	10	c.28 others(21): Show c.2888_*2889insTATATATATA	BEX1	ENSG00000133169.6	transcript	ENST00000372728.4	protein_coding		2642		chrX	TogoVar
BEX1_chrX_103057651_103069171	103060010	C C	CTATATAT others(3): Show CTATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	339	0.0030	10	c.28 others(21): Show c.2886_*2887insTATATATATA	BEX1	ENSG00000133169.6	transcript	ENST00000372728.4	protein_coding		2640		chrX	TogoVar
BEX1_chrX_103057651_103069171	103060014	C C	CTATATAT others(3): Show CTATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	339	0.0030	10	c.28 others(21): Show c.2882_*2883insTATATATATA	BEX1	ENSG00000133169.6	transcript	ENST00000372728.4	protein_coding		2636		chrX	TogoVar
BEX1_chrX_103057651_103069171	103060016	C C	CTCTATAT others(3): Show CTCTATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	339	0.0030	10	c.28 others(21): Show c.2880_*2881insTATATATAGA	BEX1	ENSG00000133169.6	transcript	ENST00000372728.4	protein_coding		2634		chrX	TogoVar
BEX1_chrX_103057651_103069171	103060016	C C	CTCTCTAT others(3): Show CTCTCTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	339	0.0030	10	c.28 others(21): Show c.2880_*2881insTATATAGAGA	BEX1	ENSG00000133169.6	transcript	ENST00000372728.4	protein_coding		2634		chrX	TogoVar
BEX1_chrX_103057651_103069171	103060016	C C	CTCTCTCT others(3): Show CTCTCTCTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	339	0.0030	10	c.28 others(21): Show c.2880_*2881insTATAGAGAGA	BEX1	ENSG00000133169.6	transcript	ENST00000372728.4	protein_coding		2634		chrX	TogoVar
BEX1_chrX_103057651_103069171	103065997	T T	TTATATAT others(3): Show TTATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG00597.hp2 HG01928.hp1 others(18): Show HG00558.hp1 HG00597.hp2 HG01928.hp1 HG02080.hp2 HG02083.hp1 HG02155.hp1 HG02300.hp1 NA18951.hp2 NA18953.hp1 NA18967.hp1 NA18992.hp2 NA18993.hp2 NA19012.hp1 NA19058.hp1 NA19075.hp1 NA19080.hp2 NA19084.hp2 NA19085.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0020 others(2): Show a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0028	21	339	0.0620	10	c.-19 others(21): Show c.-1998_-1997insTATATATATA	BEX1	ENSG00000133169.6	transcript	ENST00000372728.4	protein_coding		1827		chrX	TogoVar
BEX1_chrX_103057651_103069171	103066003	A A	ATGTGTGT others(3): Show ATGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp2 NA18973.hp2 NA18980.hp1 NA18964.hp2 NA18973.hp2 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0019 a0001c0001t0002g0004 a0001c0001t0002g0019	3	339	0.0089	10	c.-20 others(21): Show c.-2004_-2003insCACACACACA	BEX1	ENSG00000133169.6	transcript	ENST00000372728.4	protein_coding		1833		chrX	TogoVar
BEX1_chrX_103057651_103069171	103066049	G G	GTGTGTGT others(3): Show GTGTGTGTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG01099.hp1 HG01256.hp1 others(6): Show HG00733.hp2 HG01099.hp1 HG01256.hp1 HG01975.hp2 HG02004.hp2 HG02155.hp2 NA18985.hp1 NA19006.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003	9	339	0.0266	10	c.-20 others(21): Show c.-2050_-2049insTATACACACA	BEX1	ENSG00000133169.6	transcript	ENST00000372728.4	protein_coding		1879		chrX	TogoVar
BEX1_chrX_103057651_103069171	103066049	G G	GTGTGTGT others(3): Show GTGTGTGTGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG01517.hp2 HG00597.hp1 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	339	0.0059	10	c.-20 others(21): Show c.-2050_-2049insTACACACACA	BEX1	ENSG00000133169.6	transcript	ENST00000372728.4	protein_coding		1879		chrX	TogoVar
BEX2_chrX_103304346_103315990	103309250	G G	GTATATAT others(3): Show GTATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	308	0.0033	10	c.33 others(19): Show c.339_*340insTATATATATA	BEX2	ENSG00000133134.12	transcript	ENST00000372677.8	protein_coding		95		chrX	TogoVar
BEX5_chrX_102148712_102160977	102153606	C C	CATATATA others(3): Show CATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG03098.hp1 HG03453.hp2 others(4): Show HG01192.hp1 HG03098.hp1 HG03453.hp2 HG03471.hp1 NA18946.hp1 NA19000.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0002g0008 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0002g0008 a0001c0001t0003g0009	7	324	0.0216	10	c.32 others(19): Show c.323_*324insATATATATAT	BEX5	ENSG00000184515.11	transcript	ENST00000333643.4	protein_coding		105		chrX	TogoVar
BFSP1_chr20_17488905_17536379	17526141	C C	CGGGGGGG others(3): Show CGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02698.hp1 HG03098.hp2 HG02559.hp1 HG02698.hp1 HG03098.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0002c0001 a0003c0007 a0001c0003 a0002c0001 a0003c0007	a0001c0003t0001 a0002c0001t0002 a0003c0007t0002 a0001c0003t0001 a0002c0001t0002 a0003c0007t0002	a0001c0003t0001g0283 a0002c0001t0002g0269 a0003c0007t0002g0072 a0001c0003t0001g0283 a0002c0001t0002g0269 a0003c0007t0002g0072	3	396	0.0076	10	c.378 others(27): Show c.378-1243_378-1234dupCCCCCCCCCC	BFSP1	ENSG00000125864.14	transcript	ENST00000377873.8	protein_coding	1/7			chr20	TogoVar
BFSP1_chr20_17488905_17536379	17529064	A A	AGTGTGTG others(3): Show AGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00609.hp1 others(55): Show HG00408.hp1 HG00438.hp2 HG00609.hp1 HG00621.hp1 HG00673.hp1 HG01192.hp1 HG01433.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp2 HG02132.hp1 HG02273.hp2 HG02523.hp1 HG03491.hp1 HG03492.hp1 HG03710.hp2 HG04115.hp2 NA18939.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp2 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18965.hp1 NA18969.hp2 NA18973.hp1 NA18979.hp2 NA18980.hp1 NA18983.hp1 NA18985.hp1 NA18988.hp1 NA18990.hp2 NA18991.hp2 NA18995.hp2 NA18998.hp2 NA19006.hp2 NA19007.hp1 NA19012.hp1 NA19057.hp1 NA19058.hp2 NA19066.hp1 NA19067.hp2 NA19070.hp2 NA19078.hp2 NA19079.hp1 NA19082.hp2 NA19084.hp2 NA19088.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0004 others(2): Show a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0002c0001	a0001c0002t0001 a0001c0003t0001 a0001c0003t0003 others(3): Show a0001c0002t0001 a0001c0003t0001 a0001c0003t0003 a0001c0004t0002 a0001c0008t0001 a0002c0001t0002	a0001c0002t0001g0330 a0001c0002t0001g0333 a0001c0002t0001g0334 others(50): Show a0001c0002t0001g0330 a0001c0002t0001g0333 a0001c0002t0001g0334 a0001c0002t0001g0336 a0001c0002t0001g0339 a0001c0002t0001g0340 a0001c0002t0001g0343 a0001c0002t0001g0345 a0001c0002t0001g0346 a0001c0002t0001g0350 a0001c0002t0001g0353 a0001c0002t0001g0355 a0001c0002t0001g0360 a0001c0002t0001g0366 a0001c0002t0001g0374 a0001c0003t0001g0348 a0001c0003t0001g0358 a0001c0003t0001g0367 a0001c0003t0001g0369 a0001c0003t0003g0015 a0001c0003t0003g0324 a0001c0003t0003g0331 a0001c0003t0003g0332 a0001c0003t0003g0341 a0001c0004t0002g0325 a0001c0004t0002g0335 a0001c0008t0001g0351 a0001c0008t0001g0352 a0002c0001t0002g0001 a0002c0001t0002g0014 a0002c0001t0002g0326 a0002c0001t0002g0327 a0002c0001t0002g0328 a0002c0001t0002g0329 a0002c0001t0002g0337 a0002c0001t0002g0338 a0002c0001t0002g0342 a0002c0001t0002g0344 a0002c0001t0002g0347 a0002c0001t0002g0349 a0002c0001t0002g0354 a0002c0001t0002g0356 a0002c0001t0002g0357 a0002c0001t0002g0359 a0002c0001t0002g0361 a0002c0001t0002g0362 a0002c0001t0002g0363 a0002c0001t0002g0364 a0002c0001t0002g0365 a0002c0001t0002g0368 a0002c0001t0002g0370 a0002c0001t0002g0371 a0002c0001t0002g0373	58	396	0.1465	10	c.377 others(27): Show c.377+1879_377+1888dupACACACACAC	BFSP1	ENSG00000125864.14	transcript	ENST00000377873.8	protein_coding	1/7			chr20	TogoVar
BFSP2_chr3_133395056_133480208	133409227	G G	GGTGTGTG others(3): Show GGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG02257.hp1 others(3): Show HG01167.hp2 HG01169.hp1 HG02257.hp1 HG02280.hp2 HG02896.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0017 others(3): Show a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020	6	276	0.0217	10	c.489 others(27): Show c.489+8676_489+8685dupGTGTGTGTGT	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BFSP2_chr3_133395056_133480208	133424222	T T	TTGTGTGT others(3): Show TTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	276	0.0036	10	c.490 others(29): Show c.490-23094_490-23093insGTGTGTGTGT	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BFSP2_chr3_133395056_133480208	133425913	G G	GGGCAAGG others(3): Show GGGCAAGGGAA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01081.hp2 others(16): Show HG01070.hp1 HG01071.hp1 HG01081.hp2 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG02451.hp2 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02717.hp1 HG02809.hp1 HG02886.hp1 HG02896.hp2 HG02976.hp2 HG03471.hp2 HG06807.hp2 NA19043.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0022 others(15): Show a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0036 a0001c0001t0001g0070 a0001c0001t0001g0129 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0249 a0001c0001t0001g0257 a0001c0001t0001g0268 a0001c0002t0001g0053	19	276	0.0688	10	c.490 others(29): Show c.490-21400_490-21391dupAAGGGAAGGC	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BFSP2_chr3_133395056_133480208	133425985	C C	CAGGGCAG others(3): Show CAGGGCAGGGA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01928.hp2 HG00423.hp1 HG01928.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0178 a0001c0002t0001g0194 a0001c0002t0001g0178 a0001c0002t0001g0194	2	276	0.0073	10	c.490 others(29): Show c.490-21323_490-21322insAAGGGCAGGG	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BFSP2_chr3_133395056_133480208	133446570	T T	TTATATAT others(3): Show TTATATATATA	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA19085.hp1 NA18956.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0245 a0001c0001t0001g0105 a0001c0001t0001g0245	2	276	0.0073	10	c.490 others(25): Show c.490-686_490-677dupTATATATATA	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BFSP2_chr3_133395056_133480208	133446570	T T	TTTTATAT others(3): Show TTTTATATATA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0028 a0001c0002t0001g0028	1	276	0.0036	10	c.490 others(25): Show c.490-746_490-745insTTATATATAT	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BFSP2_chr3_133395056_133480208	133449963	G G	GAAGGAAA others(3): Show GAAGGAAAGAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00621.hp1 HG01106.hp2 others(13): Show HG00423.hp2 HG00621.hp1 HG01106.hp2 HG02056.hp2 HG02145.hp2 HG02155.hp2 HG02735.hp2 HG03669.hp1 NA18946.hp1 NA18947.hp1 NA18986.hp2 NA19000.hp2 NA19062.hp2 NA19074.hp1 NA19084.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0051 others(13): Show a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0001g0081 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0159 a0001c0001t0001g0179 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0251	16	276	0.0580	10	c.730 others(25): Show c.730-339_730-338insAGGAAAGAAA	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BFSP2_chr3_133395056_133480208	133449982	A A	AGGAAGGA others(3): Show AGGAAGGAAGG	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0221 a0001c0002t0001g0221	1	276	0.0036	10	c.730 others(25): Show c.730-321_730-320insGGAAGGAAGG	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	3/6			chr3	TogoVar
BFSP2_chr3_133395056_133480208	133466677	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00621.hp1 HG00735.hp1 others(50): Show HG00099.hp2 HG00621.hp1 HG00735.hp1 HG01192.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp2 HG01993.hp1 HG02004.hp2 HG02015.hp1 HG02071.hp2 HG02129.hp1 HG02145.hp1 HG02273.hp2 HG02572.hp1 HG02630.hp1 HG02630.hp2 HG02723.hp2 HG02818.hp2 HG02896.hp2 HG02922.hp1 HG02976.hp1 HG03225.hp2 HG03471.hp1 HG03516.hp2 HG03654.hp2 HG03704.hp1 HG03710.hp1 NA18943.hp2 NA18947.hp1 NA18950.hp1 NA18952.hp1 NA18960.hp1 NA18962.hp1 NA18964.hp1 NA18970.hp1 NA18993.hp1 NA18995.hp2 NA18999.hp2 NA19004.hp2 NA19043.hp1 NA19062.hp1 NA19064.hp1 NA19065.hp2 NA19084.hp2 NA19085.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0004c0005	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0004c0005t0001	a0001c0001t0001g0009 a0001c0001t0001g0021 a0001c0001t0001g0025 others(50): Show a0001c0001t0001g0009 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0112 a0001c0001t0001g0117 a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0001t0001g0133 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0157 a0001c0001t0001g0163 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0212 a0001c0001t0001g0228 a0001c0001t0001g0231 a0001c0001t0001g0235 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0265 a0001c0002t0001g0031 a0001c0002t0001g0067 a0001c0002t0001g0190 a0001c0002t0001g0197 a0001c0002t0001g0202 a0001c0002t0001g0270 a0002c0003t0001g0115 a0002c0003t0001g0119 a0004c0005t0001g0092	53	276	0.1920	10	c.892 others(25): Show c.892-140_892-131dupAAAAAAAAAA	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BGLAP_chr1_156237184_156248317	156240585	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00544.hp2 HG00558.hp1 others(107): Show HG00280.hp1 HG00544.hp2 HG00558.hp1 HG00642.hp2 HG00733.hp1 HG00738.hp2 HG01069.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp2 HG01123.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01256.hp2 HG01261.hp1 HG01361.hp1 HG01496.hp1 HG01516.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02132.hp1 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02523.hp1 HG02615.hp1 HG02630.hp2 HG02818.hp1 HG02818.hp2 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03516.hp2 HG03704.hp1 HG03831.hp2 HG03927.hp1 HG04184.hp1 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18943.hp1 NA18946.hp1 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18971.hp1 NA18972.hp2 NA18975.hp1 NA18979.hp1 NA18981.hp1 NA18981.hp2 NA18984.hp1 NA18987.hp1 NA18989.hp1 NA18989.hp2 NA18994.hp1 NA18995.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19005.hp1 NA19007.hp2 NA19011.hp2 NA19030.hp2 NA19057.hp1 NA19058.hp1 NA19062.hp1 NA19063.hp2 NA19064.hp1 NA19074.hp1 NA19079.hp1 NA19084.hp2 NA19085.hp1 NA19091.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0001 a0001c0001t0001 a0001c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0008t0001g0001	110	400	0.2750	10	c.-16 others(21): Show c.-1647_-1646insAAAAAAAAAA	BGLAP	ENSG00000242252.2	transcript	ENST00000368272.5	protein_coding		1598		chr1	TogoVar
BGN_chrX_153489980_153514546	153491151	A A	AGTTCTTG others(3): Show AGTTCTTGTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0039 a0004c0011t0039	a0004c0011t0039g0049 a0004c0011t0039g0049	1	321	0.0031	10	c.-39 others(21): Show c.-3974_-3973insGTTCTTGTTT	BGN	ENSG00000182492.16	transcript	ENST00000331595.9	protein_coding		3828		chrX	TogoVar
BGN_chrX_153489980_153514546	153500763	A A	ATGTGTGC others(3): Show ATGTGTGCGTG	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA19083.hp1 HG02886.hp2 NA19083.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0066 a0001c0003t0001 a0001c0002t0066 a0001c0003t0001	a0001c0002t0066g0202 a0001c0003t0001g0112 a0001c0002t0066g0202 a0001c0003t0001g0112	2	321	0.0062	10	c.-11 others(27): Show c.-11-3850_-11-3841dupGTGTGTGTGC	BGN	ENSG00000182492.16	transcript	ENST00000331595.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
BGN_chrX_153489980_153514546	153509055	C C	CTTTCTGT others(3): Show CTTTCTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02155.hp1 HG02155.hp2 HG02155.hp1 HG02155.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0028 a0001c0004t0080 a0001c0004t0028 a0001c0004t0080	a0001c0004t0028g0036 a0001c0004t0080g0015 a0001c0004t0028g0036 a0001c0004t0080g0015	2	321	0.0062	10	c.61 others(19): Show c.611_*612insTTCTGTGTGT	BGN	ENSG00000182492.16	transcript	ENST00000331595.9	protein_coding	8/8	612	INFO_REALIGN_3_PRIME	chrX	TogoVar
BGN_chrX_153489980_153514546	153509061	C C	CTGTGTGT others(3): Show CTGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02615.hp2 HG02976.hp2 HG02615.hp2 HG02976.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0044 a0001c0005t0059 a0001c0003t0044 a0001c0005t0059	a0001c0003t0044g0156 a0001c0005t0059g0062 a0001c0003t0044g0156 a0001c0005t0059g0062	2	321	0.0062	10	c.65 others(19): Show c.652_*661dupGTGTGTGTGT	BGN	ENSG00000182492.16	transcript	ENST00000331595.9	protein_coding	8/8	662	INFO_REALIGN_3_PRIME	chrX	TogoVar
BHLHA15_chr7_98206439_98220457	98215958	C C	CACAGTTT others(3): Show CACAGTTTTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0003 a0001c0001t0005g0003	1	456	0.0022	10	c.30 others(21): Show c.3079_*3080insACAGTTTTGT	BHLHA15	ENSG00000180535.4	transcript	ENST00000609256.2	protein_coding		502		chr7	TogoVar
BHLHA15_chr7_98206439_98220457	98216321	G G	GCAGTCTG others(3): Show GCAGTCTGCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0001 a0001c0001t0032g0001	1	456	0.0022	10	c.34 others(21): Show c.3442_*3443insCAGTCTGCAC	BHLHA15	ENSG00000180535.4	transcript	ENST00000609256.2	protein_coding		865		chr7	TogoVar
BHLHA9_chr17_1265444_1276815	1268402	G G	GCCCCGCC others(3): Show GCCCCGCCCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01515.hp1 HG01517.hp1 others(11): Show HG01243.hp2 HG01515.hp1 HG01517.hp1 HG02055.hp1 HG02257.hp1 HG02559.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02896.hp2 HG02965.hp2 HG03139.hp1 HG03579.hp1 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0000 a0001c0002t0002g0000 a0001c0002t0001g0000 a0001c0002t0002g0000	14	442	0.0317	10	c.-21 others(21): Show c.-2162_-2161insCCCCGCCCGC	BHLHA9	ENSG00000205899.4	transcript	ENST00000391429.2	protein_coding		2041		chr17	TogoVar
BHLHE23_chr20_63000927_63011964	63009582	A A	AGCGGCTC others(3): Show AGCGGCTCCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(214): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG02004.hp2 HG02015.hp2 HG02055.hp2 HG02080.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03710.hp1 HG03834.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18953.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp2 NA18975.hp1 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18990.hp2 NA18992.hp1 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19009.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19056.hp2 NA19058.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19074.hp2 NA19077.hp2 NA19080.hp1 NA19082.hp1 NA19083.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20752.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0007	a0001c0001 a0001c0002 a0001c0008 others(5): Show a0001c0001 a0001c0002 a0001c0008 a0002c0003 a0003c0004 a0004c0005 a0005c0007 a0007c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0002t0001 a0001c0002t0004 a0001c0008t0001 a0002c0003t0001 a0003c0004t0001 a0004c0005t0001 a0005c0007t0001 a0007c0009t0001	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 others(9): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 a0001c0001t0005g0000 a0001c0002t0001g0000 a0001c0002t0004g0000 a0001c0008t0001g0000 a0002c0003t0001g0000 a0003c0004t0001g0000 a0004c0005t0001g0000 a0005c0007t0001g0000 a0007c0009t0001g0000	217	446	0.4866	10	c.-28 others(21): Show c.-2809_-2808insGCGGAGCCGC	BHLHE23	ENSG00000125533.6	transcript	ENST00000612929.2	protein_coding		2619		chr20	TogoVar
BHLHE23_chr20_63000927_63011964	63009585	G G	GGCTCCGC others(3): Show GGCTCCGCGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00741.hp2 HG00140.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	446	0.0045	10	c.-28 others(21): Show c.-2812_-2811insGGCGCGGAGC	BHLHE23	ENSG00000125533.6	transcript	ENST00000612929.2	protein_coding		2622		chr20	TogoVar
BHLHE40_chr3_4974437_4990323	4983829	G G	GGTGTGTG others(3): Show GGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp2 HG01070.hp1 HG01071.hp2 others(13): Show HG00140.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp2 HG02055.hp1 HG02451.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG03098.hp1 HG03130.hp2 HG03579.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0006 a0001c0001t0033 a0001c0001t0034 others(1): Show a0001c0001t0006 a0001c0001t0033 a0001c0001t0034 a0001c0003t0035	a0001c0001t0006g0006 a0001c0001t0006g0015 a0001c0001t0006g0020 others(5): Show a0001c0001t0006g0006 a0001c0001t0006g0015 a0001c0001t0006g0020 a0001c0001t0006g0034 a0001c0001t0006g0048 a0001c0001t0033g0041 a0001c0001t0034g0033 a0001c0003t0035g0042	16	436	0.0367	10	c.15 others(19): Show c.154_*163dupGTGTGTGTGT	BHLHE40	ENSG00000134107.5	transcript	ENST00000256495.4	protein_coding	5/5	164	INFO_REALIGN_3_PRIME	chr3	TogoVar
BHLHE40_chr3_4974437_4990323	4983850	G G	GTGTGTGT others(3): Show GTGTGTGTGTA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0031 a0001c0002t0031	a0001c0002t0031g0029 a0001c0002t0031g0029	1	436	0.0023	10	c.16 others(19): Show c.163_*164insGTGTATGTGT	BHLHE40	ENSG00000134107.5	transcript	ENST00000256495.4	protein_coding	5/5	164	INFO_REALIGN_3_PRIME	chr3	TogoVar
BHMT2_chr5_79064767_79095069	79087010	G G	GTATATAT others(3): Show GTATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA18747.hp2 NA18972.hp2 others(2): Show HG02615.hp2 NA18747.hp2 NA18972.hp2 NA18993.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0002c0009 a0001c0002 a0002c0003 a0002c0009	a0001c0002t0002 a0001c0002t0010 a0002c0003t0006 others(1): Show a0001c0002t0002 a0001c0002t0010 a0002c0003t0006 a0002c0009t0006	a0001c0002t0002g0137 a0001c0002t0002g0155 a0001c0002t0010g0151 others(2): Show a0001c0002t0002g0137 a0001c0002t0002g0155 a0001c0002t0010g0151 a0002c0003t0006g0208 a0002c0009t0006g0047	5	390	0.0128	10	c.101 others(29): Show c.1011-1482_1011-1481insATATATATAT	BHMT2	ENSG00000132840.10	transcript	ENST00000255192.8	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
BHMT2_chr5_79064767_79095069	79087014	G G	GTATATAT others(3): Show GTATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02886.hp1 HG02559.hp2 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0005 a0001c0002t0001 a0001c0004t0005	a0001c0002t0001g0114 a0001c0004t0005g0196 a0001c0002t0001g0114 a0001c0004t0005g0196	2	390	0.0051	10	c.101 others(29): Show c.1011-1460_1011-1451dupTATATATATA	BHMT2	ENSG00000132840.10	transcript	ENST00000255192.8	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
BHMT2_chr5_79064767_79095069	79087014	G G	GTGTGCAT others(3): Show GTGTGCATATA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0179 a0001c0001t0003g0179	1	390	0.0026	10	c.101 others(29): Show c.1011-1478_1011-1477insGTGCATATAT	BHMT2	ENSG00000132840.10	transcript	ENST00000255192.8	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
BHMT2_chr5_79064767_79095069	79088358	C C	CTGTGTGT others(3): Show CTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02630.hp1 HG02818.hp2 others(1): Show HG01934.hp2 HG02630.hp1 HG02818.hp2 HG03831.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0002 a0002c0003t0001 a0001c0002t0002 a0002c0003t0001	a0001c0002t0002g0146 a0001c0002t0002g0169 a0002c0003t0001g0211 others(1): Show a0001c0002t0002g0146 a0001c0002t0002g0169 a0002c0003t0001g0211 a0002c0003t0001g0213	4	390	0.0103	10	c.101 others(26): Show c.1011-104_1011-95dupTGTGTGTGTG	BHMT2	ENSG00000132840.10	transcript	ENST00000255192.8	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
BHMT_chr5_79106809_79137288	79137234	T T	TACATATA others(3): Show TACATATACGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	432	0.0023	10	c.61 others(21): Show c.6118_*6119insACATATACGA	BHMT	ENSG00000145692.15	transcript	ENST00000274353.10	protein_coding		4947		chr5	TogoVar
BICC1_chr10_58507872_58836435	58601140	T T	TAATATAT others(3): Show TAATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01167.hp1 HG01243.hp1 others(3): Show HG00639.hp2 HG01167.hp1 HG01243.hp1 HG02683.hp2 HG03098.hp1 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0002 a0001c0001t0005 a0002c0002t0004 others(3): Show a0001c0001t0002 a0001c0001t0005 a0002c0002t0004 a0002c0002t0009 a0002c0002t0010 a0002c0003t0037	a0001c0001t0002g0064 a0001c0001t0005g0014 a0002c0002t0004g0015 others(3): Show a0001c0001t0002g0064 a0001c0001t0005g0014 a0002c0002t0004g0015 a0002c0002t0009g0119 a0002c0002t0010g0123 a0002c0003t0037g0111	6	132	0.0455	10	c.191 others(29): Show c.191-19715_191-19714insAATATATATA	BICC1	ENSG00000122870.12	transcript	ENST00000373886.8	protein_coding	1/20			chr10	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)