Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
BABAM2_chr2_27885729_28343901	28112189	C C	CCCTTCCT others(13): Show CCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	158	0.0063	20	c.571 others(39): Show c.571-17079_571-17078insTCCTTCCTTCCTTCCTTCCT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28176569	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	158	0.0063	20	c.680 others(39): Show c.680+47197_680+47216dupAAAAAAAAAAAAAAAAAAAA	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28183739	T T	TCACACAC others(13): Show TCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0126 a0001c0001t0002g0126	1	158	0.0063	20	c.681 others(39): Show c.681-53447_681-53428dupACACACACACACACACACAC	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28283018	A A	AAAGGAAA others(13): Show AAAGGAAAGAAAGTATTTATT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02970.hp1 HG02572.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0109 a0001c0001t0003g0121 a0001c0001t0001g0109 a0001c0001t0003g0121	2	158	0.0127	20	c.935 others(39): Show c.935-15320_935-15319insAAGGAAAGAAAGTATTTATT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	10/11			chr2	TogoVar
BACE2_chr21_41163160_41287530	41174138	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0015 a0001c0001t0003g0015	1	272	0.0037	20	c.312 others(37): Show c.312+5563_312+5564insTTTTTTTTTTTTTTTTTTTT	BACE2	ENSG00000182240.16	transcript	ENST00000330333.11	protein_coding	1/8			chr21	TogoVar
BACH2_chr6_89921528_90301843	90065270	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0034 a0001c0005t0005g0034	1	194	0.0052	20	c.-13 others(39): Show c.-13+23671_-13+23690dupAAAAAAAAAAAAAAAAAAAA	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	5/8			chr6	TogoVar
BACH2_chr6_89921528_90301843	90092291	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0150 a0001c0001t0051g0150	1	194	0.0052	20	c.-16 others(39): Show c.-161-3183_-161-3182insATTTTTTTTTTTTTTTTTTT	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8			chr6	TogoVar
BACH2_chr6_89921528_90301843	90092291	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0116 a0001c0001t0116	a0001c0001t0116g0137 a0001c0001t0116g0137	1	194	0.0052	20	c.-16 others(39): Show c.-161-3183_-161-3182insATATATATTTTTTTTTTTTT	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8			chr6	TogoVar
BACH2_chr6_89921528_90301843	90092291	A A	AAAAAAAA others(13): Show AAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0022 a0001c0004t0022	a0001c0004t0022g0134 a0001c0004t0022g0134	1	194	0.0052	20	c.-16 others(39): Show c.-161-3183_-161-3182insATATATATATTTTTTTTTTT	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8			chr6	TogoVar
BACH2_chr6_89921528_90301843	90100686	T T	TACACACA others(13): Show TACACACACACACACAGACAC	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0043 a0001c0004t0043	a0001c0004t0043g0169 a0001c0004t0043g0169	1	194	0.0052	20	c.-16 others(41): Show c.-161-11597_-161-11578dupGTGTCTGTGTGTGTGTGTGT	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8			chr6	TogoVar
BACH2_chr6_89921528_90301843	90100706	C C	CACACACA others(13): Show CACACACACACACACACACAG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01256.hp1 HG01978.hp1 others(13): Show HG00639.hp1 HG01256.hp1 HG01978.hp1 HG01993.hp1 HG02027.hp1 HG02040.hp1 HG02071.hp2 HG02647.hp2 HG02717.hp1 HG02896.hp2 HG03239.hp2 HG03834.hp2 NA19062.hp2 NA19070.hp1 NA19090.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0008 a0001c0001t0013 others(11): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0013 a0001c0001t0020 a0001c0001t0021 a0001c0001t0102 a0001c0002t0074 a0001c0002t0103 a0001c0002t0104 a0001c0002t0121 a0001c0003t0085 a0001c0004t0016 a0001c0005t0001 a0001c0005t0101	a0001c0001t0001g0100 a0001c0001t0001g0139 a0001c0001t0001g0141 others(13): Show a0001c0001t0001g0100 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0008g0097 a0001c0001t0013g0163 a0001c0001t0020g0089 a0001c0001t0021g0101 a0001c0001t0102g0011 a0001c0002t0074g0057 a0001c0002t0103g0105 a0001c0002t0104g0140 a0001c0002t0121g0121 a0001c0003t0085g0090 a0001c0004t0016g0086 a0001c0005t0001g0102 a0001c0005t0101g0039	16	194	0.0825	20	c.-16 others(41): Show c.-161-11598_-161-11597insCTGTGTGTGTGTGTGTGTGT	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8			chr6	TogoVar
BACH2_chr6_89921528_90301843	90100706	C C	CACACATA others(13): Show CACACATACACACACACACAG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02622.hp1 HG02895.hp1 others(6): Show HG01496.hp2 HG02622.hp1 HG02895.hp1 HG02922.hp2 HG03098.hp1 HG03209.hp1 HG03486.hp1 NA18906.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0007	a0001c0001t0007 a0001c0001t0017 a0001c0001t0089 others(6): Show a0001c0001t0007 a0001c0001t0017 a0001c0001t0089 a0001c0002t0003 a0001c0002t0007 a0001c0002t0035 a0001c0003t0036 a0001c0004t0029 a0002c0007t0028	a0001c0001t0007g0165 a0001c0001t0017g0085 a0001c0001t0089g0084 others(6): Show a0001c0001t0007g0165 a0001c0001t0017g0085 a0001c0001t0089g0084 a0001c0002t0003g0020 a0001c0002t0007g0030 a0001c0002t0035g0146 a0001c0003t0036g0068 a0001c0004t0029g0003 a0002c0007t0028g0002	9	194	0.0464	20	c.-16 others(41): Show c.-161-11598_-161-11597insCTGTGTGTGTGTGTATGTGT	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8			chr6	TogoVar
BACH2_chr6_89921528_90301843	90103029	A A	ATATATAT others(13): Show ATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0022 a0001c0006t0002g0022	1	194	0.0052	20	c.-16 others(41): Show c.-161-13921_-161-13920insAAAAAAAATATATATATATA	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8			chr6	TogoVar
BACH2_chr6_89921528_90301843	90103029	A A	ATATATAT others(13): Show ATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0080 a0001c0002t0080	a0001c0002t0080g0075 a0001c0002t0080g0075	1	194	0.0052	20	c.-16 others(41): Show c.-161-13921_-161-13920insAAAAAAAAAATATATATATA	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8			chr6	TogoVar
BACH2_chr6_89921528_90301843	90103029	A A	ATATATAT others(13): Show ATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03927.hp2 NA19003.hp2 NA20905.hp2 HG03927.hp2 NA19003.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0071 a0001c0003t0059 a0001c0004t0018 a0001c0001t0071 a0001c0003t0059 a0001c0004t0018	a0001c0001t0071g0070 a0001c0003t0059g0078 a0001c0004t0018g0069 a0001c0001t0071g0070 a0001c0003t0059g0078 a0001c0004t0018g0069	3	194	0.0155	20	c.-16 others(41): Show c.-161-13921_-161-13920insAAAAAAAAAAAATATATATA	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8			chr6	TogoVar
BACH2_chr6_89921528_90301843	90103029	A A	ATATATAT others(13): Show ATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01175.hp2 HG01255.hp1 others(1): Show HG00642.hp1 HG01175.hp2 HG01255.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0052 a0001c0003t0019 a0001c0001t0002 a0001c0001t0052 a0001c0003t0019	a0001c0001t0002g0076 a0001c0001t0052g0071 a0001c0003t0019g0072 others(1): Show a0001c0001t0002g0076 a0001c0001t0052g0071 a0001c0003t0019g0072 a0001c0003t0019g0142	4	194	0.0206	20	c.-16 others(41): Show c.-161-13921_-161-13920insAAAAAAAAAAAAAATATATA	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8			chr6	TogoVar
BACH2_chr6_89921528_90301843	90103029	A A	ATATATTT others(13): Show ATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	194	0.0052	20	c.-16 others(41): Show c.-161-13921_-161-13920insAAAAAAAAAAAAAAAATATA	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8			chr6	TogoVar
BAD_chr11_64264830_64289665	64271087	A A	ACACACAC others(13): Show ACACACACACACACACACACG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01099.hp1 HG01192.hp2 others(7): Show HG00558.hp2 HG01099.hp1 HG01192.hp2 HG01433.hp1 HG01928.hp2 HG01943.hp1 HG02056.hp2 HG04228.hp1 NA18972.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 others(7): Show a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0238 a0001c0001t0001g0325 a0001c0001t0002g0055 a0001c0001t0004g0099	10	388	0.0258	20	c.378 others(35): Show c.378+525_378+526insCGTGTGTGTGTGTGTGTGTG	BAD	ENSG00000002330.14	transcript	ENST00000309032.8	protein_coding	3/3			chr11	TogoVar
BAG3_chr10_119646380_119682819	119675778	T T	TCCTTCCC others(13): Show TCCTTCCCTCCCCCTCCCTTC	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01517.hp1 HG02258.hp2 others(7): Show HG01346.hp2 HG01517.hp1 HG02258.hp2 HG02723.hp1 HG02976.hp2 NA18951.hp2 NA18954.hp1 NA18959.hp1 NA18981.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0092 a0001c0001t0003g0094 a0001c0001t0003g0095 others(7): Show a0001c0001t0003g0092 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0097 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0219 a0001c0001t0003g0236 a0001c0001t0004g0260 a0001c0001t0004g0262	10	420	0.0238	20	c.910 others(35): Show c.910-684_910-683insTTCCCTCCCCCTCCCTTCCC	BAG3	ENSG00000151929.10	transcript	ENST00000369085.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
BAG3_chr10_119646380_119682819	119675919	T T	TCCTCCCT others(13): Show TCCTCCCTCCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	420	0.0024	20	c.910 others(35): Show c.910-530_910-529insCCCTCCCTCCCTCCCTCCCT	BAG3	ENSG00000151929.10	transcript	ENST00000369085.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
BAG4_chr8_38171855_38218301	38180522	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02559.hp1 HG01081.hp2 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0008 a0001c0001t0008g0288 a0001c0001t0002g0008 a0001c0001t0008g0288	2	306	0.0065	20	c.270 others(37): Show c.270+3390_270+3409dupAAAAAAAAAAAAAAAAAAAA	BAG4	ENSG00000156735.11	transcript	ENST00000287322.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
BAG6_chr6_31634028_31657661	31652320	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	427	0.0023	20	c.-14 others(34): Show c.-14+84_-14+103dupGTGTGTGTGTGTGTGTGTGT	BAG6	ENSG00000204463.14	transcript	ENST00000676615.2	protein_coding	1/25			chr6	TogoVar
BAHCC1_chr17_81390457_81471331	81411474	C C	CCCTGCCT others(13): Show CCCTGCCTGCCTGCCTGCCTG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0004 a0007c0008t0004	a0007c0008t0004g0317 a0007c0008t0004g0317	1	332	0.0030	20	c.178 others(39): Show c.178+11581_178+11600dupGCCTGCCTGCCTGCCTGCCT	BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAHCC1_chr17_81390457_81471331	81411514	G G	GCCTGCCT others(13): Show GCCTGCCTGCCTGCCTGCCTT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG06807.hp1 HG00733.hp1 HG06807.hp1	a0001 a0035 a0001 a0035	a0001c0093 a0035c0095 a0001c0093 a0035c0095	a0001c0093t0001 a0035c0095t0002 a0001c0093t0001 a0035c0095t0002	a0001c0093t0001g0145 a0035c0095t0002g0146 a0001c0093t0001g0145 a0035c0095t0002g0146	2	332	0.0060	20	c.178 others(39): Show c.178+11600_178+11601insGCCTGCCTGCCTGCCTTCCT	BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAHCC1_chr17_81390457_81471331	81411514	G G	GCCTGCCT others(13): Show GCCTGCCTGCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0103 a0001c0103	a0001c0103t0026 a0001c0103t0026	a0001c0103t0026g0245 a0001c0103t0026g0245	1	332	0.0030	20	c.178 others(39): Show c.178+11600_178+11601insGCCTGCCTTCCTTCCTTCCT	BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAHCC1_chr17_81390457_81471331	81418796	C C	CGTGTGTG others(13): Show CGTGTGTGTGTGTGCGCGCAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01069.hp1 HG01071.hp2 others(13): Show HG00735.hp2 HG01069.hp1 HG01071.hp2 HG01255.hp2 HG01358.hp2 HG01978.hp1 HG02055.hp1 HG02135.hp2 HG02273.hp2 HG03471.hp2 HG03516.hp1 HG03540.hp1 HG04184.hp1 NA19043.hp2 NA20805.hp2 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0046 a0057	a0001c0007 a0001c0009 a0002c0001 others(6): Show a0001c0007 a0001c0009 a0002c0001 a0003c0002 a0004c0004 a0006c0006 a0006c0020 a0046c0047 a0057c0104	a0001c0007t0015 a0001c0009t0004 a0001c0009t0030 others(8): Show a0001c0007t0015 a0001c0009t0004 a0001c0009t0030 a0002c0001t0002 a0003c0002t0004 a0004c0004t0029 a0006c0006t0001 a0006c0006t0002 a0006c0020t0002 a0046c0047t0027 a0057c0104t0010	a0001c0007t0015g0275 a0001c0009t0004g0117 a0001c0009t0030g0263 others(13): Show a0001c0007t0015g0275 a0001c0009t0004g0117 a0001c0009t0030g0263 a0002c0001t0002g0012 a0002c0001t0002g0130 a0003c0002t0004g0182 a0004c0004t0029g0220 a0006c0006t0001g0150 a0006c0006t0001g0151 a0006c0006t0001g0201 a0006c0006t0002g0153 a0006c0006t0002g0154 a0006c0006t0002g0155 a0006c0020t0002g0022 a0046c0047t0027g0264 a0057c0104t0010g0160	16	332	0.0482	20	c.179 others(37): Show c.179-7992_179-7991insGCGCGCATGTGTGTGTGTGT	BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAHCC1_chr17_81390457_81471331	81418810	C C	CGCGCATG others(13): Show CGCGCATGTGTGTGTGTACGT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0257 a0007c0008t0001g0257	1	332	0.0030	20	c.179 others(37): Show c.179-7989_179-7988insCGCATGTGTGTGTGTACGTG	BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAHCC1_chr17_81390457_81471331	81418810	C C	CGCGCGTG others(13): Show CGCGCGTGTGTGTACGTGTGT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0324 a0002c0001t0001g0324	1	332	0.0030	20	c.179 others(37): Show c.179-7989_179-7988insCGCGTGTGTGTACGTGTGTG	BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAHCC1_chr17_81390457_81471331	81458532	C C	CCTCCCCC others(13): Show CCTCCCCCGCACTCCCCCGCA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0098 a0003c0002t0001g0098	1	332	0.0030	20	c.534 others(35): Show c.5343+77_5344-77insTCCCCCGCACTCCCCCGCAC	BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	18/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAIAP2L1_chr7_98286650_98406090	98357020	A A	AAAAAAAA others(13): Show AAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19084.hp1 NA19002.hp1 NA19084.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0170 a0002c0006t0001g0186 a0002c0006t0001g0170 a0002c0006t0001g0186	2	298	0.0067	20	c.128 others(37): Show c.128-1893_128-1892insATATATATATATATTTTTTT	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	2/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98394242	A A	AAAACAAA others(13): Show AAAACAAACAAACAAACAAAC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02074.hp1 NA18947.hp2 others(1): Show HG00544.hp2 HG02074.hp1 NA18947.hp2 NA18979.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0152 a0001c0002t0001g0210 a0001c0002t0001g0211 others(1): Show a0001c0002t0001g0152 a0001c0002t0001g0210 a0001c0002t0001g0211 a0001c0002t0001g0212	4	298	0.0134	20	c.51+ others(35): Show c.51+6559_51+6560insGTTTGTTTGTTTGTTTGTTT	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98405344	G G	GCTTGCTT others(13): Show GCTTGCTTGCTTGCTTGCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0080	1	298	0.0034	20	c.-44 others(31): Show c.-4493_-4492insAAAGCAAGCAAGCAAGCAAG	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding		4255		chr7	TogoVar
BAIAP2_chr17_81030151_81122434	81050752	C C	CATGCACA others(13): Show CATGCACACATGCATGTGTGT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03704.hp1 HG03516.hp2 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0073 a0001c0001t0004g0007 a0001c0001t0001g0073 a0001c0001t0004g0007	2	376	0.0053	20	c.55- others(35): Show c.55-2904_55-2885dupCATGTGTGTATGCACACATG	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAIAP2_chr17_81030151_81122434	81055569	G G	GGTTTTTT others(13): Show GGTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0011 a0001c0001t0004g0011	1	376	0.0027	20	c.130 others(37): Show c.130+1826_130+1827insGTTTTTTTTTTTTTTTTTTT	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	2/13			chr17	TogoVar
BAIAP2_chr17_81030151_81122434	81093078	C C	CCTGGGCT others(13): Show CCTGGGCTGGGCTGGGCTGGG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0010 a0001c0006t0010	a0001c0006t0010g0010 a0001c0006t0010g0010	1	376	0.0027	20	c.489 others(37): Show c.489+6532_489+6551dupGGCTGGGCTGGGCTGGGCTG	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAIAP2_chr17_81030151_81122434	81104976	A A	AGCAGGGA others(13): Show AGCAGGGATCTCCCCCCAACG	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0207 a0001c0003t0001g0207	1	376	0.0027	20	c.126 others(37): Show c.1268+277_1268+296dupCAACGGCAGGGATCTCCCCC	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAIAP2_chr17_81030151_81122434	81105077	C C	CGGGTCTC others(13): Show CGGGTCTCCCCCCAGCGGCAG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0009 a0001c0001t0033g0009	1	376	0.0027	20	c.126 others(37): Show c.1268+377_1268+396dupCGGCAGGGGTCTCCCCCCAG	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAIAP2_chr17_81030151_81122434	81105092	C C	CGGCAGGG others(13): Show CGGCAGGGGTCTCCCCCCAGT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02258.hp1 HG02723.hp1 others(2): Show HG01167.hp2 HG02258.hp1 HG02723.hp1 HG02886.hp1 HG03453.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0014 a0001c0004t0011 a0001c0004t0014	a0001c0004t0011g0028 a0001c0004t0011g0317 a0001c0004t0011g0319 others(2): Show a0001c0004t0011g0028 a0001c0004t0011g0317 a0001c0004t0011g0319 a0001c0004t0014g0186 a0001c0004t0014g0191	5	376	0.0133	20	c.126 others(37): Show c.1268+389_1268+408dupCCCCCCAGTGGCAGGGGTCT	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
BANK1_chr4_101785730_102079812	101828383	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03225.hp1 HG02818.hp1 HG03225.hp1	a0001 a0006 a0001 a0006	a0001c0002 a0006c0013 a0001c0002 a0006c0013	a0001c0002t0003 a0006c0013t0004 a0001c0002t0003 a0006c0013t0004	a0001c0002t0003g0144 a0006c0013t0004g0143 a0001c0002t0003g0144 a0006c0013t0004g0143	2	284	0.0070	20	c.71- others(35): Show c.71-1417_71-1398dupATATATATATATATATATAT	BANK1	ENSG00000153064.12	transcript	ENST00000322953.9	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr4	TogoVar
BANK1_chr4_101785730_102079812	101847736	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0041 a0001c0002t0006g0041	1	284	0.0035	20	c.470 others(37): Show c.470-7279_470-7260dupCACACACACACACACACACA	BANK1	ENSG00000153064.12	transcript	ENST00000322953.9	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr4	TogoVar
BANK1_chr4_101785730_102079812	101925772	G G	GTTCTTTC others(13): Show GTTCTTTCATTTTTTTCTGGC	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18975.hp1 NA18747.hp1 NA18975.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0210 a0002c0003t0002g0211 a0002c0003t0002g0210 a0002c0003t0002g0211	2	284	0.0070	20	c.120 others(39): Show c.1206+7592_1206+7611dupTTTTTTTCTGGCTTCTTTCA	BANK1	ENSG00000153064.12	transcript	ENST00000322953.9	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr4	TogoVar
BANK1_chr4_101785730_102079812	101947309	A A	ATATATAT others(13): Show ATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01169.hp1 HG02074.hp2 others(5): Show HG00408.hp2 HG01169.hp1 HG02074.hp2 HG03491.hp1 HG04204.hp1 NA18940.hp2 NA18957.hp1 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0062 others(5): Show a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0062 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0121 a0001c0001t0002g0020 a0001c0002t0001g0108	8	284	0.0282	20	c.120 others(41): Show c.1206+29123_1206+29124insATATATATATATATATGTAT	BANK1	ENSG00000153064.12	transcript	ENST00000322953.9	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr4	TogoVar
BANK1_chr4_101785730_102079812	101986825	A A	ATATATAT others(13): Show ATATATATGTATATATATGTG	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0010 a0003c0004t0001g0010	1	284	0.0035	20	c.120 others(41): Show c.1207-34681_1207-34662dupGTATATATATGTGTATATAT	BANK1	ENSG00000153064.12	transcript	ENST00000322953.9	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr4	TogoVar
BANK1_chr4_101785730_102079812	101986835	A A	ATATATAT others(13): Show ATATATATGTGTATATATATG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02486.hp1 HG02723.hp1 others(7): Show HG02257.hp2 HG02486.hp1 HG02723.hp1 HG02818.hp1 HG02922.hp1 HG02976.hp2 HG03139.hp1 HG06807.hp1 NA18906.hp2 NA19030.hp1	a0006 a0010 a0006 a0010	a0006c0007 a0006c0013 a0010c0015 a0006c0007 a0006c0013 a0010c0015	a0006c0007t0001 a0006c0007t0003 a0006c0013t0003 others(2): Show a0006c0007t0001 a0006c0007t0003 a0006c0013t0003 a0006c0013t0004 a0010c0015t0003	a0006c0007t0001g0242 a0006c0007t0001g0244 a0006c0007t0001g0245 others(7): Show a0006c0007t0001g0242 a0006c0007t0001g0244 a0006c0007t0001g0245 a0006c0007t0001g0246 a0006c0007t0001g0247 a0006c0007t0001g0248 a0006c0007t0003g0243 a0006c0013t0003g0142 a0006c0013t0004g0143 a0010c0015t0003g0270	10	284	0.0352	20	c.120 others(41): Show c.1207-34671_1207-34652dupGTGTATATATATGTATATAT	BANK1	ENSG00000153064.12	transcript	ENST00000322953.9	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr4	TogoVar
BANK1_chr4_101785730_102079812	101986857	A A	ATATATAT others(13): Show ATATATATGTGTATATATATG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG03453.hp2 HG01175.hp1 HG03453.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0047 a0003c0004t0003g0120 a0003c0004t0003g0047 a0003c0004t0003g0120	2	284	0.0070	20	c.120 others(41): Show c.1207-34650_1207-34649insGTGTATATATATGTATATAT	BANK1	ENSG00000153064.12	transcript	ENST00000322953.9	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr4	TogoVar
BANK1_chr4_101785730_102079812	101986897	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0003 a0008c0014t0003	a0008c0014t0003g0223 a0008c0014t0003g0223	1	284	0.0035	20	c.120 others(41): Show c.1207-34616_1207-34615insATATATATATATATATATAT	BANK1	ENSG00000153064.12	transcript	ENST00000322953.9	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr4	TogoVar
BANK1_chr4_101785730_102079812	101986899	G G	GTGTGTGT others(13): Show GTGTGTGTGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0148 a0001c0002t0003g0148	1	284	0.0035	20	c.120 others(41): Show c.1207-34614_1207-34613insGTGTGTGTGTATATATATAT	BANK1	ENSG00000153064.12	transcript	ENST00000322953.9	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr4	TogoVar
BANK1_chr4_101785730_102079812	102007144	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02300.hp2 HG03471.hp2 HG00741.hp2 HG02300.hp2 HG03471.hp2	a0003 a0005 a0003 a0005	a0003c0004 a0005c0006 a0003c0004 a0005c0006	a0003c0004t0001 a0005c0006t0001 a0003c0004t0001 a0005c0006t0001	a0003c0004t0001g0261 a0003c0004t0001g0262 a0005c0006t0001g0280 a0003c0004t0001g0261 a0003c0004t0001g0262 a0005c0006t0001g0280	3	284	0.0106	20	c.120 others(41): Show c.1207-14369_1207-14368insATATATATATATATATATAT	BANK1	ENSG00000153064.12	transcript	ENST00000322953.9	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr4	TogoVar
BANK1_chr4_101785730_102079812	102057220	C C	CGCTCTCT others(13): Show CGCTCTCTCTCTCTCTCTCTT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0106 a0001c0002t0003g0106	1	284	0.0035	20	c.197 others(39): Show c.1970-2977_1970-2958dupCTCTCTTGCTCTCTCTCTCT	BANK1	ENSG00000153064.12	transcript	ENST00000322953.9	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr4	TogoVar
BARHL2_chr1_90706539_90722302	90709236	G G	GAAGAAAG others(13): Show GAAGAAAGAAAGAAAGAAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00438.hp2 HG00733.hp1 others(77): Show HG00140.hp1 HG00438.hp2 HG00733.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01167.hp1 HG01175.hp1 HG01192.hp2 HG01256.hp2 HG01258.hp1 HG01346.hp2 HG01433.hp2 HG01515.hp1 HG01517.hp1 HG01928.hp2 HG01934.hp2 HG01981.hp1 HG02004.hp1 HG02027.hp1 HG02083.hp2 HG02129.hp2 HG02258.hp1 HG02572.hp2 HG02622.hp1 HG02698.hp1 HG02886.hp1 HG03017.hp1 HG03139.hp2 HG03654.hp2 HG03688.hp1 HG04199.hp2 HG04204.hp2 NA18939.hp2 NA18942.hp1 NA18943.hp2 NA18948.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18971.hp2 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18986.hp1 NA18987.hp1 NA18987.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18998.hp2 NA18999.hp2 NA19001.hp1 NA19002.hp2 NA19007.hp1 NA19009.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19062.hp1 NA19062.hp2 NA19065.hp1 NA19070.hp2 NA19074.hp2 NA19075.hp2 NA19076.hp2 NA19077.hp1 NA19079.hp2 NA19080.hp1 NA19087.hp1 NA19089.hp1 NA19091.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0018 others(27): Show a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0090 a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0022 a0001c0001t0002g0025 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0056 a0001c0001t0002g0071 a0001c0001t0002g0093 a0001c0001t0005g0083 a0001c0001t0007g0103	80	446	0.1794	20	c.30 others(31): Show c.3075_*3076insTCTTTCTTTCTTTCTTTCTT	BARHL2	ENSG00000143032.8	transcript	ENST00000370445.5	protein_coding		2302		chr1	TogoVar

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Search Results (Total: 10000 hits)