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
ASAP1_chr8_130047104_130448674	130049908	TGGAGGGC others(15): Show TGGAGGGCAGAGGGGAACACATG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	308	0.0033	-22	c.48 others(33): Show c.4801_*4822delCATGTGTTCCCCTCTGCCCTCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2195		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049991	TGGGGGGC others(15): Show TGGGGGGCAGAGGGGAACACATG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 NA18950.hp2 NA18998.hp2 HG03139.hp2 NA18950.hp2 NA18998.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0164 a0002c0002t0001g0160 a0002c0002t0002g0161 a0001c0001t0001g0164 a0002c0002t0001g0160 a0002c0002t0002g0161	3	308	0.0097	-22	c.47 others(33): Show c.4718_*4739delCATGTGTTCCCCTCTGCCCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2112		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050074	TGGAGGGC others(15): Show TGGAGGGCAGAGGAGAACACATG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02895.hp1 HG02572.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0256 a0001c0001t0001g0012 a0001c0001t0001g0256	2	308	0.0065	-22	c.46 others(33): Show c.4635_*4656delCATGTGTTCTCCTCTGCCCTCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2029		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130064893	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01943.hp2 HG03017.hp2 others(1): Show HG01175.hp2 HG01943.hp2 HG03017.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0005 a0001c0001t0009g0006 a0001c0001t0009g0007 others(1): Show a0001c0001t0009g0005 a0001c0001t0009g0006 a0001c0001t0009g0007 a0001c0001t0009g0008	4	308	0.0130	-22	c.270 others(41): Show c.2702-3846_2702-3825delCACACACACACACACACACACA	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130151370	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	308	0.0033	-22	c.108 others(41): Show c.1080+1344_1080+1365delTTTTTTTTTTTTTTTTTTTTTT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	13/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130153337	ATATATAT others(15): Show ATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01243.hp2 HG01943.hp2 others(8): Show HG01175.hp2 HG01243.hp2 HG01943.hp2 HG02647.hp1 HG03017.hp2 HG03239.hp2 HG03942.hp1 HG04228.hp2 NA18943.hp1 NA18946.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0009 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0009 a0002c0002t0001 a0002c0002t0003	a0001c0001t0001g0221 a0001c0001t0009g0005 a0001c0001t0009g0006 others(8): Show a0001c0001t0001g0221 a0001c0001t0009g0005 a0001c0001t0009g0006 a0001c0001t0009g0007 a0001c0001t0009g0008 a0002c0002t0001g0066 a0002c0002t0001g0093 a0002c0002t0001g0100 a0002c0002t0003g0139 a0002c0002t0003g0140 a0002c0002t0003g0141	11	308	0.0357	-22	c.101 others(39): Show c.1011-554_1011-533delCATATATATATATATATATATA	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	12/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130256739	TTATATAT others(15): Show TTATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00597.hp2 HG00609.hp1 others(37): Show HG00323.hp1 HG00597.hp2 HG00609.hp1 HG00642.hp1 HG01123.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01943.hp2 HG02080.hp2 HG02083.hp1 HG02165.hp2 HG02257.hp2 HG02572.hp1 HG02698.hp2 HG02717.hp1 HG02965.hp2 HG03017.hp2 HG03942.hp2 HG04199.hp2 HG04228.hp1 NA18945.hp1 NA18948.hp2 NA18951.hp1 NA18952.hp1 NA18955.hp1 NA18957.hp1 NA18962.hp2 NA18966.hp1 NA18994.hp1 NA19000.hp2 NA19010.hp1 NA19063.hp2 NA19065.hp1 NA19087.hp2 NA19090.hp2 NA19091.hp2 NA20129.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0011 a0001c0001 a0002c0002 a0002c0011	a0001c0001t0001 a0001c0001t0009 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0009 a0002c0002t0001 a0002c0002t0002 a0002c0002t0011 a0002c0011t0001	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0009g0005 others(37): Show a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0009g0005 a0001c0001t0009g0006 a0001c0001t0009g0007 a0001c0001t0009g0008 a0002c0002t0001g0014 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0100 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0147 a0002c0002t0001g0234 a0002c0002t0001g0240 a0002c0002t0001g0266 a0002c0002t0001g0267 a0002c0002t0001g0268 a0002c0002t0001g0269 a0002c0002t0002g0033 a0002c0002t0002g0265 a0002c0002t0002g0270 a0002c0002t0011g0235 a0002c0011t0001g0074	40	308	0.1299	-22	c.187 others(41): Show c.187-19767_187-19746delTATATATATATATATATATATA	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130262416	AAGAGAGA others(15): Show AAGAGAGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02280.hp1 HG00738.hp2 HG02280.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0022 a0002c0003t0001g0026 a0002c0003t0001g0022 a0002c0003t0001g0026	2	308	0.0065	-22	c.187 others(41): Show c.187-25444_187-25423delCTCTCTCTCTCTCTCTCTCTCT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130400535	TCCAGCAC others(15): Show TCCAGCACTTTGGGAGGCCGAGG	T T	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	308	0.0033	-22	c.59+ others(37): Show c.59+1328_59+1349delCCTCGGCCTCCCAAAGTGCTGG	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	2/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130420235	TACACACA others(15): Show TACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA20129.hp1 NA18906.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0028 a0002c0002t0011 a0001c0001t0028 a0002c0002t0011	a0001c0001t0028g0088 a0002c0002t0011g0235 a0001c0001t0028g0088 a0002c0002t0011g0235	2	308	0.0065	-22	c.-27 others(41): Show c.-27-18287_-27-18266delGTGTGTGTGTGTGTGTGTGTGT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	1/29			chr8	TogoVar
ASB14_chr3_57263342_57297685	57273243	TAATCATG others(15): Show TAATCATGCAGTGTACAATTCAA	T T	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0043 a0001c0001t0004g0043	1	336	0.0030	-22	c.22 others(39): Show c.22+3263_*22+3284delTTGAATTGTACACTGCATGATT	ASB14	ENSG00000239388.10	transcript	ENST00000487349.6	protein_coding	10/10			chr3	TogoVar
ASB15_chr7_123596821_123644481	123597917	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0014 a0014	a0014c0019 a0014c0019	a0014c0019t0002 a0014c0019t0002	a0014c0019t0002g0337 a0014c0019t0002g0337	1	380	0.0026	-22	c.-42 others(33): Show c.-4241_-4220delGTGTGTGTGTGTGTGTGTGTGT	ASB15	ENSG00000146809.14	transcript	ENST00000451215.6	protein_coding		3903		chr7	TogoVar
ASB15_chr7_123596821_123644481	123620507	CATATATA others(15): Show CATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA18961.hp2 HG00621.hp2 NA18961.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0008 a0002c0003t0002 a0002c0003t0008	a0002c0003t0002g0201 a0002c0003t0008g0133 a0002c0003t0002g0201 a0002c0003t0008g0133	2	380	0.0053	-22	c.451 others(39): Show c.451+2797_451+2818delATATATATATATATATATATAT	ASB15	ENSG00000146809.14	transcript	ENST00000451215.6	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB15_chr7_123596821_123644481	123620534	ATATATAT others(15): Show ATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0031 a0004c0004t0002g0031	1	380	0.0026	-22	c.451 others(39): Show c.451+2799_451+2820delATATATATATATATATATATTT	ASB15	ENSG00000146809.14	transcript	ENST00000451215.6	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB15_chr7_123596821_123644481	123620536	ATATATAT others(15): Show ATATATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02896.hp1 NA18979.hp2 HG02647.hp2 HG02896.hp1 NA18979.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0005c0007 a0001c0002 a0005c0007	a0001c0002t0001 a0005c0007t0003 a0001c0002t0001 a0005c0007t0003	a0001c0002t0001g0011 a0005c0007t0003g0293 a0001c0002t0001g0011 a0005c0007t0003g0293	3	380	0.0079	-22	c.451 others(39): Show c.451+2801_451+2822delATATATATATATATATATTTTT	ASB15	ENSG00000146809.14	transcript	ENST00000451215.6	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
ASCC1_chr10_72091032_72221276	72218157	AAAAAAAA others(15): Show AAAAAAAAAATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0126 a0001c0001t0002g0126	1	216	0.0046	-22	c.-20 others(33): Show c.-2006_-1985delATATATATATATATTTTTTTTT	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding		1882		chr10	TogoVar
ASCC1_chr10_72091032_72221276	72218159	AAAAAAAA others(15): Show AAAAAAAATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03225.hp2 HG03041.hp2 HG03225.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0004c0005t0005 a0001c0001t0001 a0004c0005t0005	a0001c0001t0001g0022 a0004c0005t0005g0161 a0001c0001t0001g0022 a0004c0005t0005g0161	2	216	0.0093	-22	c.-20 others(33): Show c.-2008_-1987delATATATATATATATATTTTTTT	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding		1884		chr10	TogoVar
ASCC1_chr10_72091032_72221276	72218161	AAAAAATA others(15): Show AAAAAATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 homoSapiens_chm13v2.hp1 NA18906.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0033 a0001c0001t0002g0082 a0001c0001t0001g0033 a0001c0001t0002g0082	2	216	0.0093	-22	c.-20 others(33): Show c.-2010_-1989delATATATATATATATATATTTTT	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding		1886		chr10	TogoVar
ASCC1_chr10_72091032_72221276	72218163	AAAATATA others(15): Show AAAATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	216	0.0046	-22	c.-20 others(33): Show c.-2012_-1991delATATATATATATATATATATTT	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding		1888		chr10	TogoVar
ASCC1_chr10_72091032_72221276	72218165	AATATATA others(15): Show AATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 NA18522.hp1 HG02280.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0044 a0001c0001t0002g0045	2	216	0.0093	-22	c.-20 others(33): Show c.-2014_-1993delATATATATATATATATATATAT	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding		1890		chr10	TogoVar
ASCC2_chr22_29783611_29843274	29818403	TACACACA others(15): Show TACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 NA18522.hp1 NA18971.hp1 others(2): Show HG01243.hp1 NA18522.hp1 NA18971.hp1 NA19012.hp1 NA19043.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0004 a0003c0003t0001 a0001c0001t0004 a0003c0003t0001	a0001c0001t0004g0020 a0001c0001t0004g0022 a0001c0001t0004g0028 others(2): Show a0001c0001t0004g0020 a0001c0001t0004g0022 a0001c0001t0004g0028 a0003c0003t0001g0158 a0003c0003t0001g0178	5	372	0.0134	-22	c.542 others(39): Show c.542-2352_542-2331delGTGTGTGTGTGTGTGTGTGTGT	ASCC2	ENSG00000100325.15	transcript	ENST00000307790.8	protein_coding	5/19			chr22	TogoVar
ASCC3_chr6_100503194_100886329	100608709	ATATATTT others(15): Show ATATATTTTATATATATATACTT	A A	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03486.hp1 HG03098.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0221 a0001c0001t0001g0223	2	314	0.0064	-22	c.478 others(41): Show c.4786-1643_4786-1622delAAGTATATATATATAAAATATA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASDURF_chr2_189656459_189671401	189665596	GTGTATAT others(15): Show GTGTATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0070 a0003c0004t0004g0070	1	340	0.0029	-22	c.220 others(37): Show c.220+147_220+168delGTATATATATATATATATATAT	ASDURF	ENSG00000286053.2	transcript	ENST00000607829.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASH1L_chr1_155330268_155567803	155357078	TACACACA others(15): Show TACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01975.hp2 HG02451.hp1 others(2): Show HG01891.hp1 HG01975.hp2 HG02451.hp1 HG02630.hp1 HG03834.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0006 a0004c0004t0004 a0001c0001t0006 a0004c0004t0004	a0001c0001t0006g0082 a0001c0001t0006g0084 a0004c0004t0004g0005 others(2): Show a0001c0001t0006g0082 a0001c0001t0006g0084 a0004c0004t0004g0005 a0004c0004t0004g0006 a0004c0004t0004g0007	5	182	0.0275	-22	c.705 others(39): Show c.7055+216_7055+237delGTGTGTGTGTGTGTGTGTGTGT	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	15/27			chr1	TogoVar
ASH1L_chr1_155330268_155567803	155490968	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	182	0.0055	-22	c.421 others(39): Show c.421-8541_421-8520delTTTTTTTTTTTTTTTTTTTTTT	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	2/27			chr1	TogoVar
ASIC2_chr17_33008087_33298295	33039191	CCACAGGG others(15): Show CCACAGGGATAGGACACGGTGCT	C C	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0107 a0001c0002t0002g0107	1	240	0.0042	-22	c.988 others(41): Show c.988-10821_988-10800delAGCACCGTGTCCTATCCCTGTG	ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	3/9			chr17	TogoVar
ASIC5_chr4_155824729_155871277	155825297	TACACACA others(15): Show TACACACACACACACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	334	0.0030	-22	c.45 others(33): Show c.4537_*4558delGTGTGTGTGTGTGTGTGTGTGT	ASIC5	ENSG00000256394.3	transcript	ENST00000537611.3	protein_coding		4431		chr4	TogoVar
ASNSD1_chr2_189656459_189675831	189665596	GTGTATAT others(15): Show GTGTATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0006 a0007c0012t0006	a0007c0012t0006g0073 a0007c0012t0006g0073	1	340	0.0029	-22	c.-93 others(37): Show c.-93+147_-93+168delGTATATATATATATATATATAT	ASNSD1	ENSG00000138381.10	transcript	ENST00000260952.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASPG_chr14_104080700_104120582	104085482	CACCCCGC others(15): Show CACCCCGCCAGGCCCCGCCCCCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02572.hp2 HG02055.hp2 HG02572.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0018 a0002c0003t0002 a0002c0003t0018	a0002c0003t0002g0178 a0002c0003t0018g0177 a0002c0003t0002g0178 a0002c0003t0018g0177	2	368	0.0054	-22	c.-28 others(31): Show c.-288_-267delACCCCGCCAGGCCCCGCCCCCA	ASPG	ENSG00000166183.16	transcript	ENST00000551177.6	protein_coding		217		chr14	TogoVar
ASPHD2_chr22_26424260_26450015	26438630	TATACATA others(15): Show TATACATATATATATACACATAC	T T	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01516.hp1 HG01517.hp2 others(5): Show HG01496.hp1 HG01516.hp1 HG01517.hp2 HG01981.hp1 HG02055.hp2 HG03688.hp2 NA18906.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0001c0001t0005 a0002c0003t0005 a0001c0001t0003 a0001c0001t0005 a0002c0003t0005	a0001c0001t0003g0064 a0001c0001t0003g0145 a0001c0001t0005g0168 others(3): Show a0001c0001t0003g0064 a0001c0001t0003g0145 a0001c0001t0005g0168 a0002c0003t0005g0034 a0002c0003t0005g0178 a0002c0003t0005g0179	8	428	0.0187	-22	c.887 others(39): Show c.887-3825_887-3804delCATATATATATACACATACATA	ASPHD2	ENSG00000128203.7	transcript	ENST00000215906.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
ASPH_chr8_61495556_61719592	61706414	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAGAAGAAG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02976.hp2 HG03579.hp2 HG02055.hp2 HG02976.hp2 HG03579.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0073 a0002c0003t0002g0074 a0002c0003t0002g0075 a0002c0003t0002g0073 a0002c0003t0002g0074 a0002c0003t0002g0075	3	258	0.0116	-22	c.103 others(39): Show c.103+7833_103+7854delCTTCTTCTTTTTTTTTTTTTTT	ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding	1/24			chr8	TogoVar
ASPSCR1_chr17_81972629_82022406	81997083	TGCTCCGG others(15): Show TGCTCCGGGATGAGGCCGTGTCC	T T	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG01256.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	2	366	0.0055	-22	c.933 others(37): Show c.933+258_933+279delCCGCTCCGGGATGAGGCCGTGT	ASPSCR1	ENSG00000169696.16	transcript	ENST00000306739.9	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr17	TogoVar
ASRGL1_chr11_62332448_62398412	62375428	TTATATAT others(15): Show TTATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0277 a0001c0001t0002g0277	1	370	0.0027	-22	c.492 others(41): Show c.492-13673_492-13652delATATATATATATATATATATAT	ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
ASRGL1_chr11_62332448_62398412	62375460	ATATATAT others(15): Show ATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02056.hp2 HG02135.hp2 others(1): Show HG00323.hp1 HG02056.hp2 HG02135.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0008 a0001c0001t0003g0123 a0001c0001t0003g0131 others(1): Show a0001c0001t0003g0008 a0001c0001t0003g0123 a0001c0001t0003g0131 a0001c0001t0003g0146	4	370	0.0108	-22	c.492 others(41): Show c.492-13671_492-13650delATATATATATATATATATATTT	ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
ASTN1_chr1_176856067_177169712	176942818	GTGTATAT others(15): Show GTGTATATATATATATATGTATA	G G	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02055.hp2 HG02109.hp2 HG01346.hp1 HG02055.hp2 HG02109.hp2	a0001 a0002 a0001 a0002	a0001c0009 a0002c0007 a0001c0009 a0002c0007	a0001c0009t0004 a0002c0007t0016 a0001c0009t0004 a0002c0007t0016	a0001c0009t0004g0005 a0001c0009t0004g0006 a0002c0007t0016g0066 a0001c0009t0004g0005 a0001c0009t0004g0006 a0002c0007t0016g0066	3	112	0.0268	-22	c.237 others(41): Show c.2377+1051_2377+1072delTATACATATATATATATATACA	ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	14/22			chr1	TogoVar
ASTN1_chr1_176856067_177169712	176991414	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAAACC	A A	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0003 a0002c0008t0003	a0002c0008t0003g0056 a0002c0008t0003g0056	1	112	0.0089	-22	c.152 others(43): Show c.1523+23355_1523+23376delGGTTTTTTTTTTTTTTTTTTTT	ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	8/22			chr1	TogoVar
ASTN1_chr1_176856067_177169712	177047353	CAAAATAT others(15): Show CAAAATATGACAGGGAGGTCCAG	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02976.hp1 HG02055.hp2 HG02976.hp1	a0002 a0002	a0002c0007 a0002c0011 a0002c0007 a0002c0011	a0002c0007t0016 a0002c0011t0009 a0002c0007t0016 a0002c0011t0009	a0002c0007t0016g0066 a0002c0011t0009g0003 a0002c0007t0016g0066 a0002c0011t0009g0003	2	112	0.0179	-22	c.471 others(41): Show c.471+13703_471+13724delCTGGACCTCCCTGTCATATTTT	ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	2/22			chr1	TogoVar
ASTN1_chr1_176856067_177169712	177149361	TATATATA others(15): Show TATATATATAGTATATATAGTAA	T T	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0022 a0001c0001t0017g0022	1	112	0.0089	-22	c.283 others(41): Show c.283+15011_283+15032delTTACTATATATACTATATATAT	ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	1/22			chr1	TogoVar
ASTN1_chr1_176856067_177169712	177149487	TATATATA others(15): Show TATATATAGTATATATATAGTAA	T T	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0067 a0001c0003t0002g0067	1	112	0.0089	-22	c.283 others(41): Show c.283+14885_283+14906delTTACTATATATATACTATATAT	ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	1/22			chr1	TogoVar
ASTN2_chr9_116418112_117420057	116530130	TATATATA others(15): Show TATATATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG03130.hp1 HG01496.hp1 HG03130.hp1	a0001 a0001	a0001c0003 a0001c0021 a0001c0003 a0001c0021	a0001c0003t0002 a0001c0021t0006 a0001c0003t0002 a0001c0021t0006	a0001c0003t0002g0044 a0001c0021t0006g0056 a0001c0003t0002g0044 a0001c0021t0006g0056	2	102	0.0196	-22	c.335 others(43): Show c.3356-42652_3356-42631delTTATATATATATATATATATAT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116578619	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00735.hp1 HG01109.hp1 others(11): Show HG00639.hp1 HG00735.hp1 HG01109.hp1 HG01169.hp1 HG01243.hp2 HG02109.hp2 HG02572.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02922.hp2 HG03130.hp2 NA20129.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0008 a0001c0011	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(7): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0003t0001 a0001c0003t0004 a0001c0003t0005 a0001c0007t0001 a0001c0008t0005 a0001c0011t0004	a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0100 others(11): Show a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0100 a0001c0001t0005g0035 a0001c0001t0006g0016 a0001c0002t0001g0093 a0001c0003t0001g0055 a0001c0003t0004g0085 a0001c0003t0005g0082 a0001c0007t0001g0010 a0001c0007t0001g0011 a0001c0008t0005g0073 a0001c0008t0005g0081 a0001c0011t0004g0097	14	102	0.1373	-22	c.335 others(43): Show c.3355+39683_3355+39704delACACACACACACACACACACAC	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116607670	AACACACA others(15): Show AACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01256.hp2 HG01258.hp1 others(3): Show HG00735.hp2 HG01256.hp2 HG01258.hp1 HG01515.hp2 HG03540.hp1 NA19011.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0003c0016	a0001c0001t0002 a0001c0002t0002 a0001c0003t0014 others(1): Show a0001c0001t0002 a0001c0002t0002 a0001c0003t0014 a0003c0016t0004	a0001c0001t0002g0040 a0001c0002t0002g0023 a0001c0002t0002g0053 others(3): Show a0001c0001t0002g0040 a0001c0002t0002g0023 a0001c0002t0002g0053 a0001c0002t0002g0059 a0001c0003t0014g0083 a0003c0016t0004g0027	6	102	0.0588	-22	c.335 others(43): Show c.3355+10632_3355+10653delGTGTGTGTGTGTGTGTGTGTGT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116889720	TACACACA others(15): Show TACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02615.hp2 HG02809.hp1 others(3): Show HG00639.hp1 HG02615.hp2 HG02809.hp1 HG03041.hp1 HG03471.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0004 a0001c0001 a0001c0003 a0002c0004	a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 others(3): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0015 a0001c0003t0005 a0002c0004t0002	a0001c0001t0002g0051 a0001c0001t0005g0035 a0001c0001t0006g0016 others(3): Show a0001c0001t0002g0051 a0001c0001t0005g0035 a0001c0001t0006g0016 a0001c0001t0015g0045 a0001c0003t0005g0082 a0002c0004t0002g0005	6	102	0.0588	-22	c.189 others(43): Show c.1890-26009_1890-25988delGTGTGTGTGTGTGTGTGTGTGT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	10/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117016604	CTATATCT others(15): Show CTATATCTATATCTATCTATCTA	C C	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0006 a0002c0004t0005g0006	1	102	0.0098	-22	c.142 others(41): Show c.1424-8367_1424-8346delTAGATAGATAGATATAGATATA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	6/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117016610	CTATATCT others(15): Show CTATATCTATCTATCTATATATA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02896.hp2 HG03139.hp2 others(2): Show HG00639.hp1 HG02896.hp2 HG03139.hp2 HG03209.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006	a0001c0001t0007 a0001c0003t0005 a0001c0003t0012 others(2): Show a0001c0001t0007 a0001c0003t0005 a0001c0003t0012 a0001c0005t0005 a0001c0006t0002	a0001c0001t0007g0078 a0001c0003t0005g0082 a0001c0003t0012g0001 others(2): Show a0001c0001t0007g0078 a0001c0003t0005g0082 a0001c0003t0012g0001 a0001c0005t0005g0048 a0001c0006t0002g0012	5	102	0.0490	-22	c.142 others(41): Show c.1424-8373_1424-8352delTATATATAGATAGATAGATATA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	6/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117134291	TATATACA others(15): Show TATATACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0075 a0001c0001t0016g0075	1	102	0.0098	-22	c.116 others(41): Show c.1168+7013_1168+7034delGTGTGTGTGTGTGTGTGTATAT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	4/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117144660	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01891.hp1 HG02109.hp1 others(1): Show HG01109.hp1 HG01891.hp1 HG02109.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0021 a0001c0001 a0001c0003 a0001c0021	a0001c0001t0016 a0001c0003t0001 a0001c0021t0006 a0001c0001t0016 a0001c0003t0001 a0001c0021t0006	a0001c0001t0016g0075 a0001c0003t0001g0038 a0001c0003t0001g0055 others(1): Show a0001c0001t0016g0075 a0001c0003t0001g0038 a0001c0003t0001g0055 a0001c0021t0006g0056	4	102	0.0392	-22	c.101 others(41): Show c.1016-3204_1016-3183delAAAAAAAAAAAAAAAAAAAAAA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	3/22			chr9	TogoVar
ASXL1_chr20_32353331_32444319	32353709	ATTAGCTC others(15): Show ATTAGCTCGGGGTGGTGGGATGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	282	0.0036	-22	c.-50 others(33): Show c.-5066_-5045delTTAGCTCGGGGTGGTGGGATGT	ASXL1	ENSG00000171456.22	transcript	ENST00000375687.10	protein_coding		4621		chr20	TogoVar
ASXL3_chr18_33573219_33756195	33713229	GTTTTTTT others(15): Show GTTTTTTTTGTTTTGTTTTGTTT	G G	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0011 a0011	a0011c0012 a0011c0012	a0011c0012t0002 a0011c0012t0002	a0011c0012t0002g0040 a0011c0012t0002g0040	1	220	0.0046	-22	c.880 others(41): Show c.880-18730_880-18709delGTTTTGTTTTGTTTTTTTTTTT	ASXL3	ENSG00000141431.14	transcript	ENST00000269197.12	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
ASZ1_chr7_117358222_117432493	117412039	AGTGTGTG others(15): Show AGTGTGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	306	0.0033	-22	c.440 others(39): Show c.440+8102_440+8123delACACACACACACACACACACAC	ASZ1	ENSG00000154438.8	transcript	ENST00000284629.7	protein_coding	4/12			chr7	TogoVar

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Search Results (Total: 9631 hits)