Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
IL18R1_chr2_102350796_102403776	102352467	A A	AAAAATAT others(22): Show AAAAATATTATATATAATTTTATATATGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0020 a0003c0005t0020	a0003c0005t0020g0045 a0003c0005t0020g0045	1	366	0.0027	29	c.-39 others(40): Show c.-3962_-3961insAAAATATTATATATAATTTTATATATGAT	IL18R1	ENSG00000115604.12	transcript	ENST00000233957.7	protein_coding		3328		chr2	TogoVar
IL1F10_chr2_113062970_113080843	113077041	A A	AGGAGCTG others(22): Show AGGAGCTGGTGACTGATCAAGTAAGAGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	452	0.0022	29	c.16 others(40): Show c.1677_*1678insGGAGCTGGTGACTGATCAAGTAAGAGAAG	IL1F10	ENSG00000136697.13	transcript	ENST00000341010.6	protein_coding		1199		chr2	TogoVar
IL1RAPL2_chrX_104561199_105772829	104855681	G G	GTGTTTTT others(22): Show GTGTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	141	0.0071	29	c.82+ others(48): Show c.82+196687_82+196688insGTTTTTTTTTTTTTTTTTTTTTTTTT TTT	IL1RAPL2	ENSG00000189108.14	transcript	ENST00000372582.6	protein_coding	2/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL1RAPL2_chrX_104561199_105772829	104983457	A A	AATATTAG others(22): Show AATATTAGATACATAATATTATATAATATT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02559.hp2 HG02717.hp1 others(5): Show HG02486.hp1 HG02559.hp2 HG02717.hp1 HG03471.hp1 HG03486.hp2 NA18906.hp2 NA19070.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 others(5): Show a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0002t0001g0028 a0001c0002t0001g0070 a0001c0002t0001g0132	8	141	0.0567	29	c.83- others(48): Show c.83-211953_83-211925dupGATACATAATATTATATAATATTATA TTA	IL1RAPL2	ENSG00000189108.14	transcript	ENST00000372582.6	protein_coding	2/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL1RAPL2_chrX_104561199_105772829	105670146	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG03688.hp1 HG01433.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0079 a0001c0002t0001g0102 a0001c0001t0001g0079 a0001c0002t0001g0102	2	141	0.0142	29	c.773 others(48): Show c.773-47219_773-47218insATATATATATATATATATATATATAT AAT	IL1RAPL2	ENSG00000189108.14	transcript	ENST00000372582.6	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL1RAP_chr3_190509085_190656514	190572859	G G	GTTTTTTT others(22): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0165 a0001c0001t0011g0165	1	270	0.0037	29	c.64+ others(44): Show c.64+8528_64+8529insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	IL1RAP	ENSG00000196083.11	transcript	ENST00000447382.6	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
IL1RL1_chr2_102306563_102357037	102348907	G G	GATAGTGT others(22): Show GATAGTGTTTTGTGGCAGTGGTTTGACGTC	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	348	0.0029	29	c.111 others(46): Show c.1118-170_1118-142dupTAGTGTTTTGTGGCAGTGGTTTGACGTC A	IL1RL1	ENSG00000115602.17	transcript	ENST00000233954.6	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
IL31RA_chr5_55846357_55927850	55897000	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0049 a0001c0003t0049	a0001c0003t0049g0293 a0001c0003t0049g0293	1	322	0.0031	29	c.852 others(44): Show c.852+572_852+573insAAAAAAAAAAAAATATATATATATATATA	IL31RA	ENSG00000164509.16	transcript	ENST00000652347.2	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
IL31RA_chr5_55846357_55927850	55897000	A A	AAAAAAAA others(22): Show AAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA19240.hp1 HG02165.hp1 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0038 a0001c0003t0039 a0001c0003t0038 a0001c0003t0039	a0001c0003t0038g0299 a0001c0003t0039g0155 a0001c0003t0038g0299 a0001c0003t0039g0155	2	322	0.0062	29	c.852 others(44): Show c.852+572_852+573insAAAAAAATATATATATATATATATATATA	IL31RA	ENSG00000164509.16	transcript	ENST00000652347.2	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
IL31RA_chr5_55846357_55927850	55897000	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0243 a0001c0001t0014g0243	1	322	0.0031	29	c.852 others(44): Show c.852+571_852+572insTATATATATATATATATATATATATATAT	IL31RA	ENSG00000164509.16	transcript	ENST00000652347.2	protein_coding	7/14			chr5	TogoVar
IL31RA_chr5_55846357_55927850	55897015	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0225 a0001c0001t0055g0225	1	322	0.0031	29	c.852 others(44): Show c.852+587_852+588insATATATATATATATATATATATATTTTTT	IL31RA	ENSG00000164509.16	transcript	ENST00000652347.2	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
IL31RA_chr5_55846357_55927850	55897015	A A	ATATATAT others(22): Show ATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA19009.hp1 NA19068.hp1 NA18971.hp2 NA19009.hp1 NA19068.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0021 a0001c0003t0027 a0001c0003t0021 a0001c0003t0027	a0001c0003t0021g0158 a0001c0003t0021g0159 a0001c0003t0027g0153 a0001c0003t0021g0158 a0001c0003t0021g0159 a0001c0003t0027g0153	3	322	0.0093	29	c.852 others(44): Show c.852+587_852+588insATATATATATATATATATATATTTTTTTT	IL31RA	ENSG00000164509.16	transcript	ENST00000652347.2	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
IL31RA_chr5_55846357_55927850	55897015	A A	ATATATAT others(22): Show ATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0290 a0001c0003t0006g0290	1	322	0.0031	29	c.852 others(44): Show c.852+587_852+588insATATATATATATATTTTTTTTTTTTTTTT	IL31RA	ENSG00000164509.16	transcript	ENST00000652347.2	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
IL31RA_chr5_55846357_55927850	55897015	A A	ATATATAT others(22): Show ATATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02922.hp1 HG02896.hp2 HG02922.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0014 a0001c0003 a0002c0014	a0001c0003t0006 a0002c0014t0083 a0001c0003t0006 a0002c0014t0083	a0001c0003t0006g0149 a0002c0014t0083g0119 a0001c0003t0006g0149 a0002c0014t0083g0119	2	322	0.0062	29	c.852 others(44): Show c.852+587_852+588insATATATATATATTTTTTTTTTTTTTTTTT	IL31RA	ENSG00000164509.16	transcript	ENST00000652347.2	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
IL31RA_chr5_55846357_55927850	55897015	A A	ATATATAT others(22): Show ATATATATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02818.hp2 HG02976.hp2 others(1): Show HG02647.hp1 HG02818.hp2 HG02976.hp2 NA18612.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0006 a0001c0003t0051 a0002c0002t0001 a0001c0003t0006 a0001c0003t0051 a0002c0002t0001	a0001c0003t0006g0287 a0001c0003t0006g0289 a0001c0003t0051g0291 others(1): Show a0001c0003t0006g0287 a0001c0003t0006g0289 a0001c0003t0051g0291 a0002c0002t0001g0044	4	322	0.0124	29	c.852 others(44): Show c.852+587_852+588insATATATATATTTTTTTTTTTTTTTTTTTT	IL31RA	ENSG00000164509.16	transcript	ENST00000652347.2	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
IL31RA_chr5_55846357_55927850	55897015	A A	ATATATAT others(22): Show ATATATATATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0046 a0002c0002t0001g0046	1	322	0.0031	29	c.852 others(44): Show c.852+587_852+588insATATATATTTTTTTTTTTTTTTTTTTTTT	IL31RA	ENSG00000164509.16	transcript	ENST00000652347.2	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
IL36G_chr2_112973006_112990658	112981242	T T	TCCTTGCC others(22): Show TCCTTGCCAGCATCAGCTTTTCCCTTTTTC	intron_variant intron_variant	MODIFIER	NA18976.hp2 NA18976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	420	0.0024	29	c.300 others(46): Show c.300+1099_300+1127dupGCCAGCATCAGCTTTTCCCTTTTTCCCT T	IL36G	ENSG00000136688.11	transcript	ENST00000259205.5	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
IL3RA_chrX_1331785_1387689	1366808	G G	GCGGGGTG others(22): Show GCGGGGTGCACGGGGGTGCGCGGCGTGAGC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	115	0.0087	29	c.874 others(46): Show c.874+1563_874+1564insCACGGGGGTGCGCGGCGTGAGCCGGGGT G	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
ILF2_chr1_153656788_153675993	153658903	T T	TTGGGGGC others(22): Show TTGGGGGCGGGGCCTGTCTCTCTGGCTTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	388	0.0026	29	c.34 others(40): Show c.3464_*3492dupCAAAGCCAGAGAGACAGGCCCCGCCCCCA	ILF2	ENSG00000143621.17	transcript	ENST00000361891.9	protein_coding		2884		chr1	TogoVar
ILF3_chr19_10649346_10697400	10659991	A A	AAAAATAA others(22): Show AAAAATAATCCAAGGCTTCGCTCTGGGAAT	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0313 a0001c0001t0001g0313	1	346	0.0029	29	c.-91 others(46): Show c.-91+5506_-91+5534dupAAATAATCCAAGGCTTCGCTCTGGGAAT A	ILF3	ENSG00000129351.18	transcript	ENST00000588657.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
IMMP1L_chr11_31427401_31514622	31436038	T T	TTGAATTT others(22): Show TTGAATTTAATATCCAGTGAATAGTCTGTG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0256 a0002c0003t0001g0256	1	298	0.0034	29	c.322 others(46): Show c.322-2497_322-2469dupCACAGACTATTCACTGGATATTAAATTC A	IMMP1L	ENSG00000148950.11	transcript	ENST00000532287.6	protein_coding	4/5			chr11	TogoVar
IMPA2_chr18_11976507_12035877	12022528	A A	AAATATAT others(22): Show AAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02559.hp2 HG02258.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0068 a0001c0001t0001g0021 a0001c0001t0001g0068	2	364	0.0055	29	c.491 others(46): Show c.491-5514_491-5513insATATATATATATATATATATATATATAT A	IMPA2	ENSG00000141401.12	transcript	ENST00000269159.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
IMPG2_chr3_101217546_101325575	101256189	G G	GAAAGAAA others(22): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0244 a0001c0001t0051g0244	1	360	0.0028	29	c.115 others(48): Show c.1153+1311_1153+1339dupTCTTTCTTTCTTTCTTTCTTTCTTTC TTT	IMPG2	ENSG00000081148.12	transcript	ENST00000193391.8	protein_coding	10/18			chr3	TogoVar
INIP_chr9_112678926_112723117	112720430	A A	AGAAAAAG others(22): Show AGAAAAAGAAAAAGAAAAAAAAAAAAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 HG03927.hp2 HG04228.hp2 HG02602.hp2 HG03927.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0026 a0001c0001t0003g0138 a0001c0001t0003g0026 a0001c0001t0003g0138	3	372	0.0081	29	c.-25 others(40): Show c.-2501_-2500insCTTTTTTTTTTTTTTTCTTTTTCTTTTTC	INIP	ENSG00000148153.14	transcript	ENST00000374242.9	protein_coding		2314		chr9	TogoVar
INO80D_chr2_205988721_206091174	206075039	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03710.hp2 NA20805.hp1 HG03710.hp2 NA20805.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0202 a0001c0004t0007g0212 a0001c0004t0007g0202 a0001c0004t0007g0212	2	334	0.0060	29	c.-12 others(50): Show c.-124+10861_-124+10862insTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	INO80D	ENSG00000114933.16	transcript	ENST00000403263.6	protein_coding	1/10			chr2	TogoVar
INPP4B_chr4_142018160_142851301	142097225	T T	TGTTATTT others(22): Show TGTTATTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03139.hp2 HG02630.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0028 a0001c0001t0004g0053 a0001c0001t0002g0028 a0001c0001t0004g0053	2	90	0.0222	29	c.237 others(50): Show c.2374+10867_2374+10868insTAAAATAAAATAAAATAAAATAAA ATAAC	INPP4B	ENSG00000109452.13	transcript	ENST00000262992.9	protein_coding	23/25			chr4	TogoVar
INPP4B_chr4_142018160_142851301	142097225	T T	TTTTATTT others(22): Show TTTTATTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0006 a0001c0006t0006	a0001c0006t0006g0051 a0001c0006t0006g0051	1	90	0.0111	29	c.237 others(50): Show c.2374+10867_2374+10868insTAAAATAAAATAAAATAAAATAAA ATAAA	INPP4B	ENSG00000109452.13	transcript	ENST00000262992.9	protein_coding	23/25			chr4	TogoVar
INPP5A_chr10_132532787_132788480	132752094	T T	TGTCTGGG others(22): Show TGTCTGGGTGGAGGCGGGTGCCCAGGAGGC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0203 a0002c0002t0004g0203	1	204	0.0049	29	c.903 others(46): Show c.903+2264_903+2292dupGGGTGCCCAGGAGGCGTCTGGGTGGAGG C	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132752111	G G	GTGCCCAG others(22): Show GTGCCCAGGAGGCGTCTGGGTGGAGGCGGC	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01167.hp2 HG01255.hp2 others(32): Show HG01071.hp1 HG01167.hp2 HG01255.hp2 HG01261.hp1 HG01515.hp2 HG01952.hp1 HG02015.hp2 HG02056.hp1 HG02083.hp2 HG02109.hp1 HG02135.hp1 HG02145.hp1 HG02486.hp2 HG02698.hp1 HG02735.hp2 HG02809.hp1 HG03098.hp2 HG03130.hp1 HG03239.hp2 HG03579.hp2 HG03654.hp2 HG04184.hp2 NA18522.hp2 NA18945.hp2 NA18952.hp2 NA18969.hp2 NA18971.hp2 NA18973.hp1 NA18990.hp1 NA19010.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(4): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0011	a0001c0001t0001 a0001c0001t0014 a0001c0001t0017 others(10): Show a0001c0001t0001 a0001c0001t0014 a0001c0001t0017 a0001c0003t0001 a0001c0003t0004 a0001c0005t0001 a0001c0005t0018 a0001c0005t0019 a0001c0006t0001 a0001c0006t0008 a0001c0007t0008 a0001c0009t0008 a0001c0011t0001	a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 others(32): Show a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0075 a0001c0001t0001g0115 a0001c0001t0001g0124 a0001c0001t0001g0134 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0170 a0001c0001t0001g0175 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0014g0078 a0001c0001t0017g0182 a0001c0003t0001g0145 a0001c0003t0004g0199 a0001c0003t0004g0202 a0001c0005t0001g0185 a0001c0005t0001g0186 a0001c0005t0018g0038 a0001c0005t0019g0035 a0001c0006t0001g0188 a0001c0006t0008g0187 a0001c0007t0008g0144 a0001c0009t0008g0087 a0001c0011t0001g0172	35	204	0.1716	29	c.903 others(46): Show c.903+2292_903+2293insGGCTGCCCAGGAGGCGTCTGGGTGGAGG C	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5B_chr1_37855697_37952053	37917308	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0132 a0005c0007t0001g0132	1	346	0.0029	29	c.532 others(48): Show c.532+14604_532+14605insTATATATATATATATATATATATATA TAT	INPP5B	ENSG00000204084.14	transcript	ENST00000373024.8	protein_coding	7/23			chr1	TogoVar
INPP5B_chr1_37855697_37952053	37941958	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA19005.hp1 HG02129.hp1 NA19005.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0002c0003 a0001c0005 a0002c0003	a0001c0005t0001 a0002c0003t0002 a0001c0005t0001 a0002c0003t0002	a0001c0005t0001g0284 a0002c0003t0002g0285 a0001c0005t0001g0284 a0002c0003t0002g0285	2	346	0.0058	29	c.281 others(46): Show c.281-1161_281-1160insATATATATATATTTTTTTTTTTTTTTTT T	INPP5B	ENSG00000204084.14	transcript	ENST00000373024.8	protein_coding	5/23			chr1	TogoVar
INPP5B_chr1_37855697_37952053	37941958	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02145.hp2 NA18978.hp1 HG00280.hp2 HG02145.hp2 NA18978.hp1	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0002 a0002c0003t0002 a0002c0002t0002 a0002c0003t0002	a0002c0002t0002g0219 a0002c0003t0002g0282 a0002c0003t0002g0283 a0002c0002t0002g0219 a0002c0003t0002g0282 a0002c0003t0002g0283	3	346	0.0087	29	c.281 others(46): Show c.281-1161_281-1160insATATATATATATATTTTTTTTTTTTTTT T	INPP5B	ENSG00000204084.14	transcript	ENST00000373024.8	protein_coding	5/23			chr1	TogoVar
INPP5B_chr1_37855697_37952053	37941958	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG03098.hp1 HG03710.hp1 others(2): Show HG02132.hp1 HG03098.hp1 HG03710.hp1 NA18969.hp1 NA18979.hp2	a0002 a0003 a0002 a0003	a0002c0003 a0003c0004 a0003c0012 a0002c0003 a0003c0004 a0003c0012	a0002c0003t0002 a0003c0004t0004 a0003c0012t0010 a0002c0003t0002 a0003c0004t0004 a0003c0012t0010	a0002c0003t0002g0275 a0002c0003t0002g0276 a0002c0003t0002g0277 others(2): Show a0002c0003t0002g0275 a0002c0003t0002g0276 a0002c0003t0002g0277 a0003c0004t0004g0015 a0003c0012t0010g0093	5	346	0.0145	29	c.281 others(46): Show c.281-1161_281-1160insATATATATATATATATTTTTTTTTTTTT T	INPP5B	ENSG00000204084.14	transcript	ENST00000373024.8	protein_coding	5/23			chr1	TogoVar
INPP5B_chr1_37855697_37952053	37941958	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0293 a0002c0003t0003g0293	1	346	0.0029	29	c.281 others(46): Show c.281-1161_281-1160insATATATATATATATATATTTTTTTTTTT T	INPP5B	ENSG00000204084.14	transcript	ENST00000373024.8	protein_coding	5/23			chr1	TogoVar
INPP5B_chr1_37855697_37952053	37941958	A A	AAAAAAAA others(22): Show AAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02451.hp1 NA18998.hp1 HG01169.hp2 HG02451.hp1 NA18998.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0005 a0002c0003 a0004c0006 a0001c0005 a0002c0003 a0004c0006	a0001c0005t0001 a0002c0003t0003 a0004c0006t0002 a0001c0005t0001 a0002c0003t0003 a0004c0006t0002	a0001c0005t0001g0255 a0002c0003t0003g0059 a0004c0006t0002g0043 a0001c0005t0001g0255 a0002c0003t0003g0059 a0004c0006t0002g0043	3	346	0.0087	29	c.281 others(46): Show c.281-1161_281-1160insATATATATATATATATATATTTTTTTTT T	INPP5B	ENSG00000204084.14	transcript	ENST00000373024.8	protein_coding	5/23			chr1	TogoVar
INPP5B_chr1_37855697_37952053	37941958	A A	AAAAAAAA others(22): Show AAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0027 a0001c0001t0021g0027	1	346	0.0029	29	c.281 others(46): Show c.281-1161_281-1160insATATATATATATATATATATATTTTTTT T	INPP5B	ENSG00000204084.14	transcript	ENST00000373024.8	protein_coding	5/23			chr1	TogoVar
INPP5F_chr10_119721050_119834147	119785286	G G	GTTTTTTT others(22): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0261 a0002c0002t0002g0261	1	328	0.0031	29	c.315 others(46): Show c.315+3531_315+3532insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	INPP5F	ENSG00000198825.15	transcript	ENST00000650623.2	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
INSM2_chr14_35529164_35542054	35541040	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	402	0.0025	29	c.50 others(40): Show c.5087_*5088insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	INSM2	ENSG00000168348.4	transcript	ENST00000307169.4	protein_coding		3987		chr14	TogoVar
INSR_chr19_7107265_7299414	7163948	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0042 a0001c0042	a0001c0042t0124 a0001c0042t0124	a0001c0042t0124g0103 a0001c0042t0124g0103	1	300	0.0033	29	c.186 others(46): Show c.1862-750_1862-749insATATATATATATATATTTTTTTTTTTTT T	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	8/21			chr19	TogoVar
INS_chr11_2154779_2166209	2156646	C C	CGCACCCG others(22): Show CGCACCCGTGAATGGCGGCTCCTGGCCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	376	0.0027	29	c.31 others(40): Show c.3177_*3205dupTGTGGCCAGGAGCCGCCATTCACGGGTGC	INS	ENSG00000254647.7	transcript	ENST00000381330.5	protein_coding		3132		chr11	TogoVar
INS_chr11_2154779_2166209	2161579	G G	GACCCCTG others(22): Show GACCCCTGTCCCCAGGACCCCTGTCCCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	376	0.0027	29	c.-43 others(38): Show c.-430_-429insGTGGGGACAGGGGTCCTGGGGACAGGGGT	INS	ENSG00000254647.7	transcript	ENST00000381330.5	protein_coding		371		chr11	TogoVar
INS_chr11_2154779_2166209	2161664	C C	CACCCCTG others(22): Show CACCCCTGTCCCCACACCCCTGTCCCCGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	376	0.0027	29	c.-51 others(38): Show c.-515_-514insCCCGGGGACAGGGGTGTGGGGACAGGGGT	INS	ENSG00000254647.7	transcript	ENST00000381330.5	protein_coding		456		chr11	TogoVar
INS_chr11_2154779_2166209	2161677	A A	ACACCCCT others(22): Show ACACCCCTGTCCCCACACCCCTGTCCCCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	376	0.0027	29	c.-52 others(38): Show c.-528_-527insCTGGGGACAGGGGTGTGGGGACAGGGGTG	INS	ENSG00000254647.7	transcript	ENST00000381330.5	protein_coding		469		chr11	TogoVar
INS_chr11_2154779_2166209	2161678	G G	GGACCCCT others(22): Show GGACCCCTGTCCTCAGACCCCCGTCCCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0008	1	376	0.0027	29	c.-52 others(38): Show c.-529_-528insGTGGGGACGGGGGTCTGAGGACAGGGGTC	INS	ENSG00000254647.7	transcript	ENST00000381330.5	protein_coding		470		chr11	TogoVar
INS_chr11_2154779_2166209	2161692	C C	CACCCCTA others(22): Show CACCCCTATCCCCAGACCCCTGTCCCCAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	376	0.0027	29	c.-54 others(38): Show c.-543_-542insCCTGGGGACAGGGGTCTGGGGATAGGGGT	INS	ENSG00000254647.7	transcript	ENST00000381330.5	protein_coding		484		chr11	TogoVar
INS_chr11_2154779_2166209	2161748	A A	AGACCCCT others(22): Show AGACCCCTGTCCCCACACCCCTGTCCCCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG01891.hp2 HG02080.hp2 others(2): Show HG01346.hp1 HG01891.hp2 HG02080.hp2 NA18980.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	5	376	0.0133	29	c.-59 others(38): Show c.-599_-598insCCGGGGACAGGGGTGTGGGGACAGGGGTC	INS	ENSG00000254647.7	transcript	ENST00000381330.5	protein_coding		540		chr11	TogoVar
INS_chr11_2154779_2166209	2161763	C C	CACCCCTG others(22): Show CACCCCTGTCCCCACACCCCTGTCCCCAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	376	0.0027	29	c.-61 others(38): Show c.-614_-613insCCTGGGGACAGGGGTGTGGGGACAGGGGT	INS	ENSG00000254647.7	transcript	ENST00000381330.5	protein_coding		555		chr11	TogoVar
INS_chr11_2154779_2166209	2161777	C C	CACCCCTG others(22): Show CACCCCTGTCCCCACACCCCTGTCCCCAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp2 NA20129.hp2 NA18522.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	2	376	0.0053	29	c.-62 others(38): Show c.-628_-627insCCTGGGGACAGGGGTGTGGGGACAGGGGT	INS	ENSG00000254647.7	transcript	ENST00000381330.5	protein_coding		569		chr11	TogoVar
INS_chr11_2154779_2166209	2161791	C C	CACCCCTG others(22): Show CACCCCTGTCCCCACACCCCTGTCCCCGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	376	0.0027	29	c.-64 others(38): Show c.-642_-641insCCCGGGGACAGGGGTGTGGGGACAGGGGT	INS	ENSG00000254647.7	transcript	ENST00000381330.5	protein_coding		583		chr11	TogoVar
INS_chr11_2154779_2166209	2161791	C C	CACCCCTG others(22): Show CACCCCTGTCCCCGGACCCCTGTCCCCGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG03195.hp1 HG02970.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	2	376	0.0053	29	c.-64 others(38): Show c.-642_-641insCCCGGGGACAGGGGTCCGGGGACAGGGGT	INS	ENSG00000254647.7	transcript	ENST00000381330.5	protein_coding		583		chr11	TogoVar

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Search Results (Total: 6085 hits)