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
BBS9_chr7_33124564_33611069	33542788	TGTACACA others(9): Show TGTACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0036 a0001c0001t0003g0036	1	268	0.0037	-16	c.252 others(35): Show c.2521+8613_2521+8628delGTACACACACACACAC	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22			chr7	TogoVar
BBS9_chr7_33124564_33611069	33542790	TACACACA others(9): Show TACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01981.hp1 HG02602.hp1 others(3): Show HG01358.hp1 HG01981.hp1 HG02602.hp1 HG03669.hp2 HG04228.hp1 NA18959.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0002c0002t0004 a0001c0001t0001 a0002c0002t0003 a0002c0002t0004	a0001c0001t0001g0081 a0001c0001t0001g0203 a0002c0002t0003g0004 others(3): Show a0001c0001t0001g0081 a0001c0001t0001g0203 a0002c0002t0003g0004 a0002c0002t0003g0012 a0002c0002t0004g0011 a0002c0002t0004g0013	6	268	0.0224	-16	c.252 others(35): Show c.2521+8648_2521+8663delCACACACACACACACA	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33565781	GTATATAT others(9): Show GTATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02630.hp1 HG02723.hp1 others(3): Show HG00733.hp1 HG02630.hp1 HG02723.hp1 HG02818.hp2 HG03209.hp1 NA19240.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0011 a0001c0001 a0005c0011	a0001c0001t0001 a0005c0011t0001 a0001c0001t0001 a0005c0011t0001	a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0145 others(3): Show a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0145 a0001c0001t0001g0162 a0005c0011t0001g0236 a0005c0011t0001g0238	6	268	0.0224	-16	c.252 others(37): Show c.2521+31636_2521+31651delTATATATATATATATA	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33597067	TGTCACAC others(9): Show TGTCACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02559.hp2 HG03209.hp2 others(1): Show HG02258.hp2 HG02559.hp2 HG03209.hp2 NA18522.hp2	a0002 a0005 a0006 a0002 a0005 a0006	a0002c0002 a0005c0012 a0006c0005 a0002c0002 a0005c0012 a0006c0005	a0002c0002t0007 a0005c0012t0007 a0006c0005t0007 a0002c0002t0007 a0005c0012t0007 a0006c0005t0007	a0002c0002t0007g0165 a0002c0002t0007g0166 a0005c0012t0007g0235 others(1): Show a0002c0002t0007g0165 a0002c0002t0007g0166 a0005c0012t0007g0235 a0006c0005t0007g0128	4	268	0.0149	-16	c.252 others(35): Show c.2522-7797_2522-7782delGTCACACACACACACA	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22			chr7	TogoVar
BBX_chr3_107517962_107816339	107616005	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0091 a0001c0001t0022g0091	1	222	0.0045	-16	c.-83 others(35): Show c.-83-29809_-83-29794delTTTTTTTTTTTTTTTT	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BBX_chr3_107517962_107816339	107638780	TACACACA others(9): Show TACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02896.hp1 HG02280.hp2 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0029 a0001c0001t0001 a0001c0001t0029	a0001c0001t0001g0062 a0001c0001t0029g0160 a0001c0001t0001g0062 a0001c0001t0029g0160	2	222	0.0090	-16	c.-83 others(33): Show c.-83-7018_-83-7003delCACACACACACACACA	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BBX_chr3_107517962_107816339	107769169	CATAGATA others(9): Show CATAGATAGATAGATAG	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01517.hp1 HG01975.hp2 others(6): Show HG01099.hp2 HG01517.hp1 HG01975.hp2 HG03490.hp1 HG03492.hp1 HG03669.hp2 NA18973.hp2 NA18986.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0018 a0001c0001t0003 a0001c0001t0012 a0001c0001t0018	a0001c0001t0003g0051 a0001c0001t0003g0069 a0001c0001t0003g0077 others(6): Show a0001c0001t0003g0051 a0001c0001t0003g0069 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0127 a0001c0001t0003g0135 a0001c0001t0003g0152 a0001c0001t0012g0039 a0001c0001t0018g0142	9	222	0.0405	-16	c.907 others(33): Show c.907-3413_907-3398delTAGATAGATAGATAGA	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BCAM_chr19_44804103_44826421	44826387	ATTTCCGT others(9): Show ATTTCCGTGACCTCTAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0015	1	410	0.0024	-16	c.54 others(27): Show c.5467_*5482delTTTCCGTGACCTCTAG	BCAM	ENSG00000187244.12	transcript	ENST00000270233.12	protein_coding		4967		chr19	TogoVar
BCAP29_chr7_107575246_107625478	107612391	TTATATAT others(9): Show TTATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02486.hp2 HG02559.hp1 others(7): Show HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02698.hp2 HG02818.hp2 HG02965.hp2 HG03195.hp2 HG03225.hp2 NA19012.hp2 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0013	a0001c0001t0002g0260 a0001c0001t0002g0264 a0001c0001t0002g0317 others(7): Show a0001c0001t0002g0260 a0001c0001t0002g0264 a0001c0001t0002g0317 a0001c0001t0005g0364 a0001c0001t0007g0327 a0001c0001t0007g0328 a0001c0001t0007g0329 a0001c0001t0007g0350 a0001c0001t0007g0352 a0001c0001t0013g0351	10	398	0.0251	-16	c.590 others(31): Show c.590-907_590-892delATATATATATATATAT	BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAP29_chr7_107575246_107625478	107615111	GTCCATTG others(9): Show GTCCATTGTTGAATGTC	G G	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0327 a0001c0001t0007g0327	1	398	0.0025	-16	c.690 others(33): Show c.690+1720_690+1735delTGAATGTCTCCATTGT	BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAS3_chr17_60672851_61397831	60676637	TTATGTAT others(9): Show TTATGTATGTATGTATG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0042 a0001c0002t0001g0042	1	74	0.0135	-16	c.-12 others(27): Show c.-1282_-1267delTATGTATGTATGTATG	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding		1213		chr17	TogoVar
BCAS3_chr17_60672851_61397831	60676669	GTATGTAT others(9): Show GTATGTATGTATGTATC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp2 HG03471.hp2 HG03098.hp1 HG03098.hp2 HG03471.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0002c0005 a0003c0001 a0001c0002 a0002c0005 a0003c0001	a0001c0002t0001 a0002c0005t0001 a0003c0001t0001 a0001c0002t0001 a0002c0005t0001 a0003c0001t0001	a0001c0002t0001g0061 a0002c0005t0001g0051 a0003c0001t0001g0026 a0001c0002t0001g0061 a0002c0005t0001g0051 a0003c0001t0001g0026	3	74	0.0405	-16	c.-12 others(27): Show c.-1250_-1235delTATGTATGTATGTATC	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding		1181		chr17	TogoVar
BCAS3_chr17_60672851_61397831	60676677	GTATGTAT others(9): Show GTATGTATCTATCTATC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0050 a0001c0004t0002g0050	1	74	0.0135	-16	c.-12 others(27): Show c.-1242_-1227delTATGTATCTATCTATC	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding		1173		chr17	TogoVar
BCAS3_chr17_60672851_61397831	60676681	GTATCTAT others(9): Show GTATCTATCTATCTATC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG03041.hp1 NA18906.hp1 others(1): Show HG01891.hp1 HG03041.hp1 NA18906.hp1 NA20300.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0002 a0001c0004t0001 a0001c0004t0002	a0001c0004t0001g0045 a0001c0004t0001g0046 a0001c0004t0001g0047 others(1): Show a0001c0004t0001g0045 a0001c0004t0001g0046 a0001c0004t0001g0047 a0001c0004t0002g0044	4	74	0.0541	-16	c.-12 others(27): Show c.-1238_-1223delTATCTATCTATCTATC	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding		1169		chr17	TogoVar
BCAS3_chr17_60672851_61397831	60683505	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02886.hp1 HG02922.hp2 others(4): Show HG02818.hp1 HG02886.hp1 HG02922.hp2 HG02965.hp1 HG03195.hp2 HG03209.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0003 a0002c0005 a0001c0004 a0002c0003 a0002c0005	a0001c0004t0002 a0002c0003t0001 a0002c0003t0003 others(1): Show a0001c0004t0002 a0002c0003t0001 a0002c0003t0003 a0002c0005t0001	a0001c0004t0002g0035 a0002c0003t0001g0015 a0002c0003t0001g0016 others(4): Show a0001c0004t0002g0035 a0002c0003t0001g0015 a0002c0003t0001g0016 a0002c0003t0001g0017 a0002c0003t0001g0033 a0002c0003t0003g0013 a0002c0005t0001g0014	7	74	0.0946	-16	c.84- others(29): Show c.84-453_84-438delTTTTTTTTTTTTTTTT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	60736878	TTCCCTCC others(9): Show TTCCCTCCCTCCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0061 a0001c0002t0001g0061	1	74	0.0135	-16	c.322 others(35): Show c.322-10314_322-10299delCCCTCCCTCCCTCCCT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	5/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61045815	ATCTCTCT others(9): Show ATCTCTCTTTCTCTCTC	A A	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA18951.hp2 HG02083.hp2 NA18951.hp2	a0002 a0003 a0002 a0003	a0002c0003 a0003c0001 a0002c0003 a0003c0001	a0002c0003t0001 a0003c0001t0001 a0002c0003t0001 a0003c0001t0001	a0002c0003t0001g0040 a0003c0001t0001g0011 a0002c0003t0001g0040 a0003c0001t0001g0011	2	74	0.0270	-16	c.202 others(35): Show c.2029+4931_2029+4946delTTCTCTCTCTCTCTCT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61234057	AGAGGGTG others(9): Show AGAGGGTGCCATTCATT	A A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0014 a0002c0005t0001g0014	1	74	0.0135	-16	c.242 others(39): Show c.2426-134267_2426-134252delGGGTGCCATTCATTGA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61322814	GAGAGAGA others(9): Show GAGAGAGAGAGAGAGAC	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02818.hp2 HG02965.hp2 others(6): Show HG02559.hp2 HG02818.hp2 HG02965.hp2 HG03041.hp2 HG03130.hp1 HG03195.hp2 HG03471.hp1 HG03540.hp2 NA20300.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0004 a0002c0003 others(3): Show a0001c0002 a0001c0004 a0002c0003 a0002c0005 a0003c0001 a0003c0010	a0001c0002t0002 a0001c0004t0002 a0002c0003t0001 others(4): Show a0001c0002t0002 a0001c0004t0002 a0002c0003t0001 a0002c0005t0001 a0003c0001t0001 a0003c0001t0002 a0003c0010t0002	a0001c0002t0002g0064 a0001c0002t0002g0070 a0001c0004t0002g0044 others(6): Show a0001c0002t0002g0064 a0001c0002t0002g0070 a0001c0004t0002g0044 a0001c0004t0002g0072 a0002c0003t0001g0017 a0002c0005t0001g0018 a0003c0001t0001g0024 a0003c0001t0002g0029 a0003c0010t0002g0023	9	74	0.1216	-16	c.242 others(37): Show c.2426-45497_2426-45482delCAGAGAGAGAGAGAGA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS4_chr20_50790061_50882177	50796479	ATATATAT others(9): Show ATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02257.hp1 HG02976.hp1 others(1): Show HG01891.hp2 HG02257.hp1 HG02976.hp1 HG03486.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0004 a0001c0004t0005 a0001c0004t0002 a0001c0004t0004 a0001c0004t0005	a0001c0004t0002g0015 a0001c0004t0002g0016 a0001c0004t0004g0013 others(1): Show a0001c0004t0002g0015 a0001c0004t0002g0016 a0001c0004t0004g0013 a0001c0004t0005g0014	4	270	0.0148	-16	c.90+ others(31): Show c.90+1308_90+1323delATATATATTTTTTTTT	BCAS4	ENSG00000124243.19	transcript	ENST00000371608.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
BCAS4_chr20_50790061_50882177	50819787	TGTCTTTC others(9): Show TGTCTTTCTGTCTTTCC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01123.hp1 HG01346.hp1 others(34): Show HG00408.hp1 HG01123.hp1 HG01346.hp1 HG01891.hp2 HG01943.hp2 HG01975.hp2 HG02055.hp1 HG02056.hp1 HG02074.hp2 HG02148.hp1 HG02155.hp2 HG02257.hp1 HG02258.hp2 HG02630.hp1 HG02886.hp2 HG02976.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp2 HG03492.hp2 HG03579.hp1 HG03942.hp2 HG04199.hp1 HG04204.hp2 NA18950.hp2 NA18963.hp1 NA18971.hp1 NA18974.hp1 NA18979.hp2 NA18994.hp2 NA19009.hp1 NA19012.hp1 NA19082.hp2 NA20129.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 a0001c0004t0005 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004	a0001c0001t0001g0001 a0001c0001t0003g0239 a0001c0001t0006g0077 others(34): Show a0001c0001t0001g0001 a0001c0001t0003g0239 a0001c0001t0006g0077 a0001c0004t0001g0012 a0001c0004t0002g0015 a0001c0004t0002g0016 a0001c0004t0004g0013 a0001c0004t0005g0014 a0002c0002t0001g0019 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0031 a0002c0002t0001g0033 a0002c0002t0001g0039 a0002c0002t0001g0042 a0002c0002t0001g0044 a0002c0002t0001g0048 a0002c0002t0001g0052 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0032 a0002c0002t0002g0041 a0002c0002t0002g0046 a0002c0002t0003g0035 a0002c0002t0003g0036 a0002c0002t0003g0053 a0002c0002t0003g0054 a0002c0002t0003g0058 a0002c0002t0004g0043 a0002c0002t0004g0061	37	270	0.1370	-16	c.162 others(33): Show c.162+1529_162+1544delTGTCTTTCCGTCTTTC	BCAS4	ENSG00000124243.19	transcript	ENST00000371608.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
BCAT1_chr12_24805024_24954101	24835551	TTTTATTT others(9): Show TTTTATTTATTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(42): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00621.hp2 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01099.hp1 HG01109.hp1 HG01175.hp2 HG01243.hp1 HG01261.hp2 HG01358.hp2 HG01496.hp2 HG01993.hp2 HG02074.hp1 HG02132.hp1 HG02273.hp1 HG02300.hp1 HG02486.hp1 HG02738.hp2 HG03669.hp1 HG03831.hp2 HG04115.hp2 HG04204.hp2 NA18942.hp2 NA18943.hp2 NA18946.hp2 NA18957.hp1 NA18959.hp1 NA18961.hp1 NA18967.hp2 NA18972.hp1 NA18974.hp2 NA18990.hp2 NA18993.hp1 NA19000.hp2 NA19002.hp1 NA19062.hp2 NA19077.hp2 NA19087.hp2 NA19088.hp2 NA19091.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0008 a0004c0007 a0001c0001 a0003c0008 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 a0001c0001t0024 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0048 a0001c0001t0049 a0001c0001t0104 a0001c0001t0105 a0001c0001t0107 a0001c0001t0110 a0001c0001t0111 a0001c0001t0126 a0001c0001t0129 a0003c0008t0002 a0004c0007t0002	a0001c0001t0001g0092 a0001c0001t0001g0121 a0001c0001t0001g0144 others(42): Show a0001c0001t0001g0092 a0001c0001t0001g0121 a0001c0001t0001g0144 a0001c0001t0001g0168 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0020 a0001c0001t0002g0096 a0001c0001t0002g0145 a0001c0001t0002g0177 a0001c0001t0002g0198 a0001c0001t0002g0204 a0001c0001t0002g0207 a0001c0001t0002g0217 a0001c0001t0002g0234 a0001c0001t0002g0273 a0001c0001t0002g0284 a0001c0001t0003g0191 a0001c0001t0004g0109 a0001c0001t0004g0110 a0001c0001t0004g0118 a0001c0001t0004g0155 a0001c0001t0007g0244 a0001c0001t0010g0311 a0001c0001t0024g0011 a0001c0001t0026g0001 a0001c0001t0027g0196 a0001c0001t0027g0227 a0001c0001t0027g0249 a0001c0001t0028g0035 a0001c0001t0028g0203 a0001c0001t0048g0315 a0001c0001t0048g0316 a0001c0001t0049g0303 a0001c0001t0049g0321 a0001c0001t0104g0071 a0001c0001t0105g0150 a0001c0001t0107g0213 a0001c0001t0110g0041 a0001c0001t0111g0146 a0001c0001t0126g0062 a0001c0001t0129g0297 a0003c0008t0002g0076 a0004c0007t0002g0077	45	322	0.1398	-16	c.903 others(31): Show c.903+944_903+959delTAAATAAATAAATAAA	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	8/10			chr12	TogoVar
BCAT1_chr12_24805024_24954101	24836785	AGAAAGAA others(9): Show AGAAAGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01081.hp2 HG01192.hp2 others(33): Show HG00621.hp1 HG01081.hp2 HG01192.hp2 HG02071.hp2 HG02129.hp2 HG02155.hp1 HG03239.hp1 HG04115.hp1 NA18747.hp1 NA18939.hp2 NA18940.hp1 NA18943.hp1 NA18946.hp1 NA18947.hp2 NA18952.hp1 NA18956.hp1 NA18959.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18973.hp1 NA18974.hp1 NA18977.hp2 NA18980.hp2 NA18990.hp1 NA18992.hp1 NA18995.hp2 NA19000.hp1 NA19012.hp2 NA19057.hp1 NA19060.hp2 NA19063.hp1 NA19066.hp1 NA19077.hp1 NA19079.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0014 others(15): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0014 a0001c0001t0022 a0001c0001t0023 a0001c0001t0029 a0001c0001t0036 a0001c0001t0039 a0001c0001t0040 a0001c0001t0074 a0001c0001t0075 a0001c0001t0079 a0001c0001t0095 a0001c0001t0096 a0001c0001t0125 a0001c0001t0133 a0001c0001t0134 a0001c0001t0135	a0001c0001t0001g0019 a0001c0001t0001g0047 a0001c0001t0001g0060 others(33): Show a0001c0001t0001g0019 a0001c0001t0001g0047 a0001c0001t0001g0060 a0001c0001t0001g0130 a0001c0001t0001g0165 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0004g0119 a0001c0001t0004g0127 a0001c0001t0004g0132 a0001c0001t0004g0137 a0001c0001t0004g0219 a0001c0001t0014g0084 a0001c0001t0014g0163 a0001c0001t0014g0164 a0001c0001t0022g0111 a0001c0001t0022g0245 a0001c0001t0023g0120 a0001c0001t0029g0304 a0001c0001t0029g0318 a0001c0001t0029g0319 a0001c0001t0036g0081 a0001c0001t0036g0123 a0001c0001t0039g0066 a0001c0001t0039g0151 a0001c0001t0040g0250 a0001c0001t0040g0251 a0001c0001t0074g0095 a0001c0001t0075g0143 a0001c0001t0079g0122 a0001c0001t0095g0223 a0001c0001t0096g0124 a0001c0001t0125g0221 a0001c0001t0133g0305 a0001c0001t0134g0306 a0001c0001t0135g0298	36	322	0.1118	-16	c.818 others(31): Show c.818-205_818-190delCTTCCTTCCTTCTTTC	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	7/10			chr12	TogoVar
BCAT1_chr12_24805024_24954101	24836908	GAGAAAGA others(9): Show GAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	322	0.0031	-16	c.818 others(31): Show c.818-328_818-313delTTCTTTCTTTCTTTCT	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	7/10			chr12	TogoVar
BCAT1_chr12_24805024_24954101	24836945	AGAAAGAA others(9): Show AGAAAGAAAGAAAAGAG	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 NA20300.hp1 HG01261.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0029 a0001c0001t0011g0030 a0001c0001t0011g0029 a0001c0001t0011g0030	2	322	0.0062	-16	c.818 others(31): Show c.818-365_818-350delCTCTTTTCTTTCTTTC	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	7/10			chr12	TogoVar
BCAT1_chr12_24805024_24954101	24910378	AAAATAAA others(9): Show AAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0115 a0001c0001t0115	a0001c0001t0115g0102 a0001c0001t0115g0102	1	322	0.0031	-16	c.7-8 others(29): Show c.7-8509_7-8494delATTTATTTATTTATTT	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	1/10			chr12	TogoVar
BCKDK_chr16_31103386_31117791	31116351	TACAGGTG others(9): Show TACAGGTGCGTGCCACC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00558.hp1 HG00642.hp1 others(72): Show HG00408.hp1 HG00558.hp1 HG00642.hp1 HG00673.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01516.hp2 HG01517.hp2 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02040.hp1 HG02056.hp1 HG02083.hp2 HG02129.hp2 HG02273.hp1 HG02602.hp1 HG02698.hp1 HG02735.hp1 HG02738.hp1 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18747.hp1 NA18939.hp2 NA18945.hp2 NA18952.hp2 NA18965.hp1 NA18974.hp2 NA18980.hp1 NA18981.hp1 NA18986.hp1 NA18995.hp2 NA19002.hp1 NA19012.hp2 NA19057.hp2 NA19063.hp2 NA19085.hp1 NA19088.hp2 NA19091.hp1 NA20752.hp1 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0003c0004t0001 a0001c0001t0001 a0001c0001t0002 a0003c0004t0001	a0001c0001t0001g0002 a0001c0001t0002g0002 a0003c0004t0001g0002 a0001c0001t0001g0002 a0001c0001t0002g0002 a0003c0004t0001g0002	75	300	0.2500	-16	c.40 others(27): Show c.4087_*4102delACAGGTGCGTGCCACC	BCKDK	ENSG00000103507.14	transcript	ENST00000219794.11	protein_coding		3561		chr16	TogoVar
BCL11A_chr2_60452194_60558654	60507245	AGGGGAGG others(9): Show AGGGGAGGGGAGGGGAG	A A	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0180 a0001c0001t0022g0180	1	262	0.0038	-16	c.386 others(35): Show c.386-38428_386-38413delCTCCCCTCCCCTCCCC	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	2/3			chr2	TogoVar
BCL11B_chr14_99164287_99277197	99199683	TGCGCGCG others(9): Show TGCGCGCGCGCGCGCAC	T T	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02559.hp1 HG02735.hp2 others(2): Show HG01978.hp2 HG02559.hp1 HG02735.hp2 HG02965.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0002t0003 a0001c0005t0009	a0001c0001t0001g0167 a0001c0001t0003g0233 a0001c0001t0007g0155 others(2): Show a0001c0001t0001g0167 a0001c0001t0003g0233 a0001c0001t0007g0155 a0001c0002t0003g0154 a0001c0005t0009g0013	5	350	0.0143	-16	c.641 others(35): Show c.641-23504_641-23489delGTGCGCGCGCGCGCGC	BCL11B	ENSG00000127152.18	transcript	ENST00000357195.8	protein_coding	3/3			chr14	TogoVar
BCL2L10_chr15_52104263_52117775	52111173	AACACACA others(9): Show AACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0086 a0002c0002t0003g0086	1	458	0.0022	-16	c.489 others(33): Show c.489+1049_489+1064delGTGTGTGTGTGTGTGT	BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding	1/1			chr15	TogoVar
BCL2L11_chr2_111115914_111173444	111147346	TCACACAC others(9): Show TCACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03704.hp2 NA20752.hp1 HG03239.hp1 HG03704.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296	3	398	0.0075	-16	c.395 others(33): Show c.395-2668_395-2653delACACACACACACACAC	BCL2L11	ENSG00000153094.25	transcript	ENST00000393256.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
BCL2L13_chr22_17633757_17735855	17722376	GGGGTGTG others(9): Show GGGGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0027 a0001c0001t0003g0027	1	306	0.0033	-16	c.601 others(33): Show c.601-4299_601-4284delGGTGTGTGTGTGTGTG	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2L1_chr20_31659458_31727868	31683769	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01346.hp1 HG00099.hp2 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0079 a0001c0001t0001g0082	2	186	0.0108	-16	c.565 others(35): Show c.565-17699_565-17684delTTTTTTTTTTTTTTTT	BCL2L1	ENSG00000171552.14	transcript	ENST00000307677.5	protein_coding	2/2			chr20	TogoVar
BCL2L1_chr20_31659458_31727868	31691152	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	186	0.0054	-16	c.565 others(35): Show c.565-25082_565-25067delTTTTTTTTTTTTTTTT	BCL2L1	ENSG00000171552.14	transcript	ENST00000307677.5	protein_coding	2/2			chr20	TogoVar
BCL2_chr18_63118346_63324769	63149844	CATTTATT others(9): Show CATTTATTTATTTATTT	C C	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA18906.hp2 NA19030.hp2 HG03486.hp1 NA18906.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0060 a0001c0001t0001 a0001c0001t0010 a0001c0001t0060	a0001c0001t0001g0232 a0001c0001t0010g0235 a0001c0001t0060g0263 a0001c0001t0001g0232 a0001c0001t0010g0235 a0001c0001t0060g0263	3	264	0.0114	-16	c.586 others(35): Show c.586-21101_586-21086delAAATAAATAAATAAAT	BCL2	ENSG00000171791.14	transcript	ENST00000333681.5	protein_coding	2/2			chr18	TogoVar
BCL2_chr18_63118346_63324769	63169295	TCTTTCTT others(9): Show TCTTTCTTTCTTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01515.hp1 HG02559.hp1 HG01192.hp1 HG01515.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0053 a0001c0002t0026 a0001c0001t0001 a0001c0001t0053 a0001c0002t0026	a0001c0001t0001g0129 a0001c0001t0053g0251 a0001c0002t0026g0055 a0001c0001t0001g0129 a0001c0001t0053g0251 a0001c0002t0026g0055	3	264	0.0114	-16	c.586 others(35): Show c.586-40552_586-40537delGAAGAAAGAAAGAAAG	BCL2	ENSG00000171791.14	transcript	ENST00000333681.5	protein_coding	2/2			chr18	TogoVar
BCL2_chr18_63118346_63324769	63169395	TTCTTTCT others(9): Show TTCTTTCTTTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA19068.hp1 HG01891.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0143 a0001c0001t0007g0218 a0001c0001t0001g0143 a0001c0001t0007g0218	2	264	0.0076	-16	c.586 others(35): Show c.586-40652_586-40637delGAAAGAAAAAGAAAGA	BCL2	ENSG00000171791.14	transcript	ENST00000333681.5	protein_coding	2/2			chr18	TogoVar
BCL2_chr18_63118346_63324769	63193641	CACATATA others(9): Show CACATATATATACACAT	C C	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0122 a0001c0001t0003g0122	1	264	0.0038	-16	c.586 others(35): Show c.586-64898_586-64883delATGTGTATATATATGT	BCL2	ENSG00000171791.14	transcript	ENST00000333681.5	protein_coding	2/2			chr18	TogoVar
BCL2_chr18_63118346_63324769	63234482	GTCTATCA others(9): Show GTCTATCACCGATCATT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00408.hp1 others(78): Show HG00099.hp1 HG00099.hp2 HG00408.hp1 HG00408.hp2 HG00558.hp2 HG00733.hp1 HG00735.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01109.hp1 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG01981.hp1 HG02040.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02165.hp1 HG02258.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02723.hp1 HG02738.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03098.hp2 HG03139.hp2 HG03225.hp1 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03654.hp2 HG03669.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18960.hp1 NA18960.hp2 NA18971.hp1 NA18985.hp1 NA18993.hp2 NA19002.hp1 NA19010.hp1 NA19060.hp1 NA19062.hp2 NA20752.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0012 a0001c0001t0019 a0001c0001t0042 a0001c0001t0043 a0001c0001t0045 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0052 a0001c0001t0053 a0001c0001t0055 a0001c0001t0057 a0001c0001t0058 a0001c0001t0061 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0009 a0001c0002t0011 a0001c0002t0015 a0001c0002t0026 a0001c0002t0041 a0001c0004t0002 a0002c0003t0001 a0002c0003t0004	a0001c0001t0001g0103 a0001c0001t0001g0110 a0001c0001t0001g0127 others(78): Show a0001c0001t0001g0103 a0001c0001t0001g0110 a0001c0001t0001g0127 a0001c0001t0001g0164 a0001c0001t0001g0177 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0204 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0222 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0238 a0001c0001t0002g0003 a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0021 a0001c0001t0002g0023 a0001c0001t0003g0107 a0001c0001t0003g0144 a0001c0001t0003g0148 a0001c0001t0003g0170 a0001c0001t0003g0196 a0001c0001t0003g0205 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0225 a0001c0001t0003g0236 a0001c0001t0004g0155 a0001c0001t0004g0193 a0001c0001t0004g0201 a0001c0001t0004g0203 a0001c0001t0005g0130 a0001c0001t0007g0126 a0001c0001t0007g0226 a0001c0001t0012g0242 a0001c0001t0019g0153 a0001c0001t0042g0124 a0001c0001t0043g0125 a0001c0001t0045g0147 a0001c0001t0047g0128 a0001c0001t0048g0140 a0001c0001t0049g0173 a0001c0001t0052g0230 a0001c0001t0053g0251 a0001c0001t0055g0252 a0001c0001t0057g0253 a0001c0001t0058g0257 a0001c0001t0061g0262 a0001c0002t0001g0247 a0001c0002t0002g0046 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0067 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0086 a0001c0002t0003g0249 a0001c0002t0006g0065 a0001c0002t0009g0048 a0001c0002t0009g0074 a0001c0002t0009g0087 a0001c0002t0011g0070 a0001c0002t0011g0071 a0001c0002t0015g0061 a0001c0002t0015g0062 a0001c0002t0026g0055 a0001c0002t0041g0246 a0001c0004t0002g0037 a0001c0004t0002g0041 a0002c0003t0001g0093 a0002c0003t0004g0096 a0002c0003t0004g0097	81	264	0.3068	-16	c.585 others(35): Show c.585+83584_585+83599delAATGATCGGTGATAGA	BCL2	ENSG00000171791.14	transcript	ENST00000333681.5	protein_coding	2/2			chr18	TogoVar
BCL2_chr18_63118346_63324769	63259899	TAAGGCTG others(9): Show TAAGGCTGACTACATTC	T T	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0151 a0001c0001t0004g0151	1	264	0.0038	-16	c.585 others(35): Show c.585+58167_585+58182delGAATGTAGTCAGCCTT	BCL2	ENSG00000171791.14	transcript	ENST00000333681.5	protein_coding	2/2			chr18	TogoVar
BCL2_chr18_63118346_63324769	63281666	CAGAAAGA others(9): Show CAGAAAGAAAGAAAGAA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00408.hp1 others(36): Show HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00639.hp1 HG00738.hp1 HG01168.hp1 HG01978.hp2 HG02055.hp2 HG02083.hp1 HG02165.hp1 HG02280.hp1 HG02523.hp2 HG02572.hp2 HG02698.hp2 HG02738.hp1 HG02738.hp2 HG02922.hp1 HG02922.hp2 HG03225.hp1 HG03471.hp2 HG03654.hp2 NA18612.hp1 NA18939.hp1 NA18957.hp1 NA18962.hp1 NA18964.hp2 NA18970.hp2 NA18974.hp2 NA19010.hp1 NA19030.hp2 NA19056.hp1 NA19064.hp1 NA19084.hp1 NA19091.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0017 a0001c0001t0056 a0001c0001t0061 a0001c0002t0002 a0001c0002t0006 a0001c0002t0010 a0001c0002t0033 a0001c0002t0035 a0001c0004t0002 a0002c0003t0001 a0003c0005t0004	a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0136 others(36): Show a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0136 a0001c0001t0001g0142 a0001c0001t0001g0178 a0001c0001t0001g0186 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0204 a0001c0001t0002g0009 a0001c0001t0002g0015 a0001c0001t0002g0025 a0001c0001t0003g0114 a0001c0001t0003g0139 a0001c0001t0004g0155 a0001c0001t0004g0193 a0001c0001t0004g0200 a0001c0001t0005g0195 a0001c0001t0006g0005 a0001c0001t0008g0034 a0001c0001t0010g0137 a0001c0001t0010g0235 a0001c0001t0011g0033 a0001c0001t0014g0108 a0001c0001t0014g0135 a0001c0001t0017g0219 a0001c0001t0056g0254 a0001c0001t0061g0262 a0001c0002t0002g0068 a0001c0002t0002g0073 a0001c0002t0002g0078 a0001c0002t0006g0057 a0001c0002t0006g0069 a0001c0002t0010g0250 a0001c0002t0033g0077 a0001c0002t0035g0079 a0001c0004t0002g0037 a0002c0003t0001g0100 a0003c0005t0004g0101	39	264	0.1477	-16	c.585 others(35): Show c.585+36400_585+36415delTTCTTTCTTTCTTTCT	BCL2	ENSG00000171791.14	transcript	ENST00000333681.5	protein_coding	2/2			chr18	TogoVar
BCL6_chr3_187716381_187750468	187737347	CAGAGAGA others(9): Show CAGAGAGAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02004.hp2 HG02165.hp1 HG00735.hp1 HG02004.hp2 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0233 a0001c0002t0001g0033 a0001c0002t0001g0283 a0001c0001t0002g0233 a0001c0002t0001g0033 a0001c0002t0001g0283	3	404	0.0074	-16	c.-49 others(33): Show c.-49-2456_-49-2441delCTCTCTCTCTCTCTCT	BCL6	ENSG00000113916.18	transcript	ENST00000406870.7	protein_coding	1/9			chr3	TogoVar
BCL7A_chr12_122016884_122067044	122034190	CATATATA others(9): Show CATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01261.hp1 HG02523.hp1 others(10): Show HG01255.hp2 HG01261.hp1 HG02523.hp1 HG03239.hp2 NA18939.hp2 NA18942.hp2 NA18949.hp2 NA18956.hp2 NA18961.hp1 NA18964.hp1 NA18980.hp2 NA18999.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0003 a0001c0002t0007 a0001c0002t0019 others(6): Show a0001c0001t0003 a0001c0002t0007 a0001c0002t0019 a0001c0002t0027 a0001c0002t0086 a0001c0003t0012 a0001c0003t0015 a0001c0003t0057 a0001c0003t0058	a0001c0001t0003g0004 a0001c0002t0007g0309 a0001c0002t0019g0005 others(10): Show a0001c0001t0003g0004 a0001c0002t0007g0309 a0001c0002t0019g0005 a0001c0002t0027g0308 a0001c0002t0086g0313 a0001c0003t0012g0264 a0001c0003t0012g0266 a0001c0003t0012g0268 a0001c0003t0015g0008 a0001c0003t0015g0269 a0001c0003t0015g0270 a0001c0003t0057g0328 a0001c0003t0058g0273	13	362	0.0359	-16	c.175 others(33): Show c.175-1102_175-1087delATATATATATATATAT	BCL7A	ENSG00000110987.9	transcript	ENST00000261822.5	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
BCLAF1_chr6_136251627_136294846	136256669	CAATAAAT others(9): Show CAATAAATAAATAAATA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02040.hp1 HG02155.hp2 HG02572.hp2 others(12): Show HG02040.hp1 HG02155.hp2 HG02572.hp2 HG02622.hp2 HG02965.hp2 HG02976.hp2 HG03098.hp2 HG03471.hp2 HG03540.hp1 HG03579.hp2 NA18942.hp2 NA19030.hp1 NA19030.hp2 NA19058.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0012 a0001c0001t0019 others(3): Show a0001c0001t0009 a0001c0001t0012 a0001c0001t0019 a0001c0001t0020 a0001c0001t0027 a0001c0001t0032	a0001c0001t0009g0103 a0001c0001t0009g0104 a0001c0001t0009g0112 others(10): Show a0001c0001t0009g0103 a0001c0001t0009g0104 a0001c0001t0009g0112 a0001c0001t0009g0113 a0001c0001t0009g0250 a0001c0001t0012g0018 a0001c0001t0012g0106 a0001c0001t0012g0107 a0001c0001t0019g0027 a0001c0001t0020g0241 a0001c0001t0020g0243 a0001c0001t0027g0030 a0001c0001t0032g0114	15	310	0.0484	-16	c.44 others(27): Show c.4425_*4440delTATTTATTTATTTATT	BCLAF1	ENSG00000029363.17	transcript	ENST00000531224.6	protein_coding	13/13	4425		chr6	TogoVar
BCLAF3_chrX_19907860_19996061	19995592	TGAAAGAA others(9): Show TGAAAGAAAGAAAGAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	207	0.0048	-16	c.-47 others(27): Show c.-4735_-4720delTTTCTTTCTTTCTTTC	BCLAF3	ENSG00000173681.17	transcript	ENST00000379682.9	protein_coding		4532		chrX	TogoVar
BCLAF3_chrX_19907860_19996061	19995656	AGAAAGAA others(9): Show AGAAAGAAAGGAGGGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	207	0.0048	-16	c.-47 others(27): Show c.-4799_-4784delCTCCCTCCTTTCTTTC	BCLAF3	ENSG00000173681.17	transcript	ENST00000379682.9	protein_coding		4596		chrX	TogoVar
BCLAF3_chrX_19907860_19996061	19995664	AGGAGGGA others(9): Show AGGAGGGAGGGAGGGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01361.hp1 HG02258.hp1 others(3): Show HG01081.hp1 HG01361.hp1 HG02258.hp1 HG02965.hp1 NA19088.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0013 a0001c0001t0022 others(1): Show a0001c0001t0004 a0001c0001t0013 a0001c0001t0022 a0001c0001t0037	a0001c0001t0004g0002 a0001c0001t0004g0053 a0001c0001t0004g0055 others(3): Show a0001c0001t0004g0002 a0001c0001t0004g0053 a0001c0001t0004g0055 a0001c0001t0013g0054 a0001c0001t0022g0091 a0001c0001t0037g0037	6	207	0.0290	-16	c.-48 others(27): Show c.-4807_-4792delCTCCCTCCCTCCCTCC	BCLAF3	ENSG00000173681.17	transcript	ENST00000379682.9	protein_coding		4604		chrX	TogoVar
BCO1_chr16_81233689_81296142	81235185	TATATATA others(9): Show TATATATATATATATAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0108 a0002c0004t0001g0108	1	402	0.0025	-16	c.-37 others(27): Show c.-3723_-3708delATATATATATATATAA	BCO1	ENSG00000135697.10	transcript	ENST00000258168.7	protein_coding		3503		chr16	TogoVar
BCORL1_chrX_129977635_130063071	129986824	CAAAAACA others(9): Show CAAAAACAAAAAAACAA	C C	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	203	0.0049	-16	c.-45 others(33): Show c.-45+4076_-45+4091delCAAAAAAACAAAAAAA	BCORL1	ENSG00000085185.16	transcript	ENST00000540052.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chrX	TogoVar
BCORL1_chrX_129977635_130063071	129989444	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0001 a0003c0011t0001	a0003c0011t0001g0026 a0003c0011t0001g0026	1	203	0.0049	-16	c.-45 others(33): Show c.-45+6704_-45+6719delTTTTTTTTTTTTTTTT	BCORL1	ENSG00000085185.16	transcript	ENST00000540052.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chrX	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)