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
APOL5_chr22_35712872_35734483	35717235	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	401	0.0025	33	c.-63 others(42): Show c.-637_-636insAAAAAAAAAAAATATATATATATATATATATAT	APOL5	ENSG00000128313.2	transcript	ENST00000249044.2	protein_coding		636		chr22	TogoVar
APPL1_chr3_57222729_57278471	57262385	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0173 a0001c0001t0002g0173	1	266	0.0038	33	c.184 others(52): Show c.1842+1636_1842+1637insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	APPL1	ENSG00000157500.12	transcript	ENST00000288266.8	protein_coding	19/21		INFO_REALIGN_3_PRIME	chr3	TogoVar
APPL2_chr12_105168300_105241174	105236175	G G	GCCCGCCG others(26): Show GCCCGCCGGCCCTCCTCCCGGCCCTCCCGCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG01891.hp2 HG02622.hp2 others(6): Show HG00544.hp2 HG01891.hp2 HG02622.hp2 HG03098.hp1 HG03130.hp2 NA18990.hp1 NA18998.hp1 NA19066.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0001t0007 a0001c0003t0003 a0001c0001t0003 a0001c0001t0007 a0001c0003t0003	a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0007g0220 others(6): Show a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0007g0220 a0001c0001t0007g0224 a0001c0001t0007g0225 a0001c0001t0007g0226 a0001c0001t0007g0227 a0001c0001t0007g0228 a0001c0003t0003g0221	9	392	0.0230	33	c.-16 others(42): Show c.-164_-163insAGGGGCGGGAGGGCCGGGAGGAGGGCCGGCGGG	APPL2	ENSG00000136044.12	transcript	ENST00000258530.8	protein_coding		2		chr12	TogoVar
AQR_chr15_34846782_34974742	34895187	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0037 a0002c0004t0037	a0002c0004t0037g0139 a0002c0004t0037g0139	1	312	0.0032	33	c.246 others(52): Show c.2461-1415_2461-1414insATATATATTTTTTTTTTTTTTTTTTT TTTTTTT	AQR	ENSG00000021776.11	transcript	ENST00000156471.10	protein_coding	22/34			chr15	TogoVar
AQR_chr15_34846782_34974742	34895187	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA19002.hp2 NA18973.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0049 a0001c0001t0001g0038 a0001c0001t0001g0049	2	312	0.0064	33	c.246 others(52): Show c.2461-1415_2461-1414insATATATATATATATATATATATTTTT TTTTTTT	AQR	ENSG00000021776.11	transcript	ENST00000156471.10	protein_coding	22/34			chr15	TogoVar
ARAP2_chr4_36061004_36249514	36185978	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0101 a0001c0001t0003g0101	1	278	0.0036	33	c.167 others(52): Show c.1678+1472_1678+1473insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	ARAP2	ENSG00000047365.13	transcript	ENST00000303965.9	protein_coding	8/32			chr4	TogoVar
ARFGEF1_chr8_67192658_67348781	67339795	C C	CGGGGGGG others(26): Show CGGGGGGGGGGGGGGGGGGGGGGGGGGGGGAGGG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	208	0.0048	33	c.124 others(50): Show c.124+3368_124+3369insCCCTCCCCCCCCCCCCCCCCCCCCCCCC CCCCC	ARFGEF1	ENSG00000066777.9	transcript	ENST00000262215.8	protein_coding	1/38			chr8	TogoVar
ARFRP1_chr20_63693647_63712976	63693651	T T	TCCACCAC others(26): Show TCCACCACCTCCACCACCTCCACCTCCACCACCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	296	0.0034	33	c.67 others(44): Show c.6791_*6792insTGGTGGTGGAGGTGGAGGTGGTGGAGGTGGTGG	ARFRP1	ENSG00000101246.20	transcript	ENST00000622789.5	protein_coding		4995		chr20	TogoVar
ARHGAP10_chr4_147727088_148077776	147783555	C C	CACACATT others(26): Show CACACATTAAATTGTGTATTGTATAATTTATAGA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0102 a0001c0004t0001g0102	1	106	0.0094	33	c.155 others(52): Show c.155-39060_155-39028dupGTGTATTGTATAATTTATAGAACACA TTAAATT	ARHGAP10	ENSG00000071205.12	transcript	ENST00000336498.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARHGAP18_chr6_129571132_129715177	129624956	A A	ATATATAT others(26): Show ATATATATGATATATATTTATATATAATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0004 a0007c0008t0004	a0007c0008t0004g0055 a0007c0008t0004g0055	1	238	0.0042	33	c.786 others(50): Show c.786+4364_786+4396dupATATATATTATATATAAATATATATCAT ATATA	ARHGAP18	ENSG00000146376.11	transcript	ENST00000368149.3	protein_coding	5/14			chr6	TogoVar
ARHGAP18_chr6_129571132_129715177	129625219	G G	GATATATG others(26): Show GATATATGATATATGATATATATTTATATGTAAT	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18990.hp2 NA19084.hp2 NA18969.hp2 NA18990.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0164 a0001c0001t0002g0184 a0001c0001t0003g0183 a0001c0001t0001g0164 a0001c0001t0002g0184 a0001c0001t0003g0183	3	238	0.0126	33	c.786 others(50): Show c.786+4101_786+4133dupATTACATATAAATATATATCATATATCA TATAT	ARHGAP18	ENSG00000146376.11	transcript	ENST00000368149.3	protein_coding	5/14			chr6	TogoVar
ARHGAP23_chr17_38423464_38517385	38513099	T T	TATATATA others(26): Show TATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	309	0.0032	33	c.21 others(44): Show c.2127_*2128insATATATATATATATATATATATATATATATATA	ARHGAP23	ENSG00000275832.5	transcript	ENST00000622683.5	protein_coding		715		chr17	TogoVar
ARHGAP26_chr5_142765377_143234007	142890151	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0037 a0001c0003t0037	a0001c0003t0037g0120 a0001c0003t0037g0120	1	198	0.0051	33	c.487 others(50): Show c.487-4086_487-4085insAAAAAAAAAAAAAAATATATATATATAT ATATA	ARHGAP26	ENSG00000145819.18	transcript	ENST00000645722.2	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
ARHGAP26_chr5_142765377_143234007	142949166	A A	AGAGAGAG others(26): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0027	1	198	0.0051	33	c.110 others(54): Show c.1107+17042_1107+17074dupGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAG	ARHGAP26	ENSG00000145819.18	transcript	ENST00000645722.2	protein_coding	11/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
ARHGAP28_chr18_6724716_6920716	6841180	C C	CCTCTCTC others(26): Show CCTCTCTCTCTCCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp1 HG03490.hp1 HG03492.hp1	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0011 a0003c0013t0011	a0003c0013t0011g0062 a0003c0013t0011g0063 a0003c0013t0011g0062 a0003c0013t0011g0063	2	248	0.0081	33	c.543 others(50): Show c.543+3777_543+3778insCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTC	ARHGAP28	ENSG00000088756.13	transcript	ENST00000383472.9	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr18	TogoVar
ARHGAP28_chr18_6724716_6920716	6920312	G G	GTGTGGTG others(26): Show GTGTGGTGGTGTGTGGTTGTGGTGTTGTGTGGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00438.hp1 others(66): Show HG00140.hp2 HG00408.hp1 HG00438.hp1 HG00597.hp2 HG00741.hp1 HG01081.hp2 HG01175.hp2 HG01346.hp1 HG01891.hp2 HG01943.hp1 HG01952.hp2 HG02040.hp2 HG02055.hp1 HG02071.hp2 HG02080.hp1 HG02129.hp2 HG02135.hp1 HG02155.hp2 HG02273.hp2 HG02300.hp2 HG02451.hp2 HG02523.hp1 HG02559.hp1 HG02602.hp2 HG02630.hp1 HG02647.hp2 HG02723.hp2 HG02735.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG03139.hp2 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03491.hp2 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG03942.hp2 HG04184.hp2 HG04204.hp2 HG06807.hp1 NA18747.hp1 NA18940.hp2 NA18941.hp2 NA18947.hp2 NA18953.hp1 NA18966.hp2 NA18967.hp2 NA18971.hp2 NA18977.hp1 NA18983.hp2 NA18988.hp1 NA18989.hp2 NA18991.hp2 NA18995.hp2 NA19003.hp2 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19063.hp1 NA19066.hp2 NA19081.hp1 NA19082.hp1 NA19086.hp1 NA19090.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0007	a0001c0001 a0001c0003 a0001c0010 others(6): Show a0001c0001 a0001c0003 a0001c0010 a0001c0018 a0002c0002 a0002c0005 a0002c0017 a0004c0007 a0007c0008	a0001c0001t0001 a0001c0001t0022 a0001c0003t0003 others(10): Show a0001c0001t0001 a0001c0001t0022 a0001c0003t0003 a0001c0010t0003 a0001c0018t0020 a0002c0002t0002 a0002c0002t0004 a0002c0002t0010 a0002c0002t0013 a0002c0005t0002 a0002c0017t0002 a0004c0007t0002 a0007c0008t0002	a0001c0001t0001g0026 a0001c0001t0022g0067 a0001c0003t0003g0068 others(66): Show a0001c0001t0001g0026 a0001c0001t0022g0067 a0001c0003t0003g0068 a0001c0003t0003g0105 a0001c0003t0003g0123 a0001c0010t0003g0089 a0001c0010t0003g0098 a0001c0010t0003g0114 a0001c0018t0020g0007 a0002c0002t0002g0009 a0002c0002t0002g0011 a0002c0002t0002g0014 a0002c0002t0002g0015 a0002c0002t0002g0023 a0002c0002t0002g0033 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0078 a0002c0002t0002g0083 a0002c0002t0002g0096 a0002c0002t0002g0099 a0002c0002t0002g0103 a0002c0002t0002g0126 a0002c0002t0002g0131 a0002c0002t0002g0134 a0002c0002t0002g0135 a0002c0002t0002g0137 a0002c0002t0002g0138 a0002c0002t0002g0148 a0002c0002t0002g0157 a0002c0002t0002g0163 a0002c0002t0002g0172 a0002c0002t0002g0174 a0002c0002t0002g0196 a0002c0002t0002g0197 a0002c0002t0002g0199 a0002c0002t0002g0207 a0002c0002t0002g0213 a0002c0002t0002g0214 a0002c0002t0002g0217 a0002c0002t0002g0224 a0002c0002t0002g0229 a0002c0002t0002g0243 a0002c0002t0002g0244 a0002c0002t0004g0006 a0002c0002t0004g0059 a0002c0002t0010g0206 a0002c0002t0010g0246 a0002c0002t0013g0022 a0002c0005t0002g0017 a0002c0005t0002g0041 a0002c0005t0002g0043 a0002c0005t0002g0057 a0002c0005t0002g0061 a0002c0005t0002g0108 a0002c0005t0002g0133 a0002c0005t0002g0140 a0002c0005t0002g0158 a0002c0005t0002g0240 a0002c0017t0002g0086 a0004c0007t0002g0036 a0004c0007t0002g0056 a0004c0007t0002g0178 a0004c0007t0002g0238 a0007c0008t0002g0069 a0007c0008t0002g0146 a0007c0008t0002g0166	69	248	0.2782	33	c.81 others(44): Show c.8158_*8159insTGTGGTGGTGTGTGGTTGTGGTGTTGTGTGGTT	ARHGAP28	ENSG00000088756.13	transcript	ENST00000383472.9	protein_coding		4597		chr18	TogoVar
ARHGAP32_chr11_128960060_129197325	128966088	T T	TTAGCAAA others(26): Show TTAGCAAAATTTTTAGCCAGACGTCCAGGGAATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0343 a0001c0001t0029g0343	1	398	0.0025	33	c.27 others(44): Show c.2786_*2818dupTATTCCCTGGACGTCTGGCTAAAAATTTTGCTA	ARHGAP32	ENSG00000134909.19	transcript	ENST00000682385.1	protein_coding	23/23	2818		chr11	TogoVar
ARHGAP42_chr11_100682288_100998941	100980559	C C	CTTCTTTT others(26): Show CTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02300.hp2 NA18962.hp1 HG01123.hp1 HG02300.hp2 NA18962.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0009 a0001c0001t0001 a0002c0002t0009	a0001c0001t0001g0084 a0001c0001t0001g0189 a0002c0002t0009g0036 a0001c0001t0001g0084 a0001c0001t0001g0189 a0002c0002t0009g0036	3	286	0.0105	33	c.245 others(52): Show c.2456+1512_2456+1513insCTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	ARHGAP42	ENSG00000165895.19	transcript	ENST00000298815.13	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
ARHGAP44_chr17_12784498_12996643	12978035	T T	TAAAAAAA others(26): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01517.hp1 NA19060.hp1 HG01517.hp1 NA19060.hp1	a0001 a0001	a0001c0002 a0001c0009 a0001c0002 a0001c0009	a0001c0002t0003 a0001c0009t0001 a0001c0002t0003 a0001c0009t0001	a0001c0002t0003g0067 a0001c0009t0001g0102 a0001c0002t0003g0067 a0001c0009t0001g0102	2	230	0.0087	33	c.176 others(52): Show c.1764-2023_1764-2022insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	ARHGAP44	ENSG00000006740.18	transcript	ENST00000379672.10	protein_coding	18/20			chr17	TogoVar
ARHGAP6_chrX_11132544_11670920	11590910	G G	GAAAGAAA others(26): Show GAAAGAAAGAAAGAAAAGAAAAGAAAAGAAAAGA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0015 a0001c0004t0005g0015	1	144	0.0069	33	c.588 others(52): Show c.588+73330_588+73331insTCTTTTCTTTTCTTTTCTTTTCTTTC TTTCTTT	ARHGAP6	ENSG00000047648.23	transcript	ENST00000337414.9	protein_coding	1/12			chrX	TogoVar
ARHGAP8_chr22_44747575_44867784	44755729	C C	CTTCTTCT others(26): Show CTTCTTCTCTATTAAGCATAAAAAGAAAGAGATA	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0007 a0002c0011t0007	a0002c0011t0007g0182 a0002c0011t0007g0182	1	390	0.0026	33	c.-72 others(50): Show c.-72+3102_-72+3103insTTCTTCTCTATTAAGCATAAAAAGAAAG AGATA	ARHGAP8	ENSG00000241484.10	transcript	ENST00000356099.11	protein_coding	1/11			chr22	TogoVar
ARHGAP8_chr22_44747575_44867784	44800530	A A	ACCCCTCC others(26): Show ACCCCTCCCCGCAGCTGTCCATGTGTGGGGGGCG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01081.hp2 HG01257.hp1 others(3): Show HG00609.hp1 HG01081.hp2 HG01257.hp1 HG01258.hp1 HG02055.hp2 HG03017.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0004 a0001c0040 a0002c0006 others(2): Show a0001c0004 a0001c0040 a0002c0006 a0002c0013 a0003c0002	a0001c0004t0003 a0001c0040t0001 a0002c0006t0004 others(2): Show a0001c0004t0003 a0001c0040t0001 a0002c0006t0004 a0002c0013t0005 a0003c0002t0002	a0001c0004t0003g0311 a0001c0040t0001g0274 a0002c0006t0004g0119 others(3): Show a0001c0004t0003g0311 a0001c0040t0001g0274 a0002c0006t0004g0119 a0002c0013t0005g0043 a0003c0002t0002g0272 a0003c0002t0002g0273	6	390	0.0154	33	c.80- others(48): Show c.80-1395_80-1363dupATGTGTGGGGGGCGCCCCTCCCCGCAGCTG TCC	ARHGAP8	ENSG00000241484.10	transcript	ENST00000356099.11	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ARHGAP8_chr22_44747575_44867784	44800566	C C	CCTCCCCA others(26): Show CCTCCCCACAGCTGTCCGTGTGTGGGGGCCGCCT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0005 a0002c0011t0005	a0002c0011t0005g0319 a0002c0011t0005g0319	1	390	0.0026	33	c.80- others(48): Show c.80-1505_80-1504insACAGCTGTCCGTGTGTGGGGGCCGCCTCTC CCC	ARHGAP8	ENSG00000241484.10	transcript	ENST00000356099.11	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ARHGAP8_chr22_44747575_44867784	44800594	G G	GCACCTCT others(26): Show GCACCTCTCCCCGCAGCTGTCCGTGTGTGGGGGC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0019 a0002c0019	a0002c0019t0008 a0002c0019t0008	a0002c0019t0008g0040 a0002c0019t0008g0040	1	390	0.0026	33	c.80- others(48): Show c.80-1482_80-1481insACCTCTCCCCGCAGCTGTCCGTGTGTGGGG GCC	ARHGAP8	ENSG00000241484.10	transcript	ENST00000356099.11	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ARHGAP8_chr22_44747575_44867784	44800616	A A	ATGTGTGG others(26): Show ATGTGTGGGGGGCGCCCCTCCCCGCAGCTGTCCG	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0003 a0003	a0003c0034 a0003c0034	a0003c0034t0002 a0003c0034t0002	a0003c0034t0002g0160 a0003c0034t0002g0160	1	390	0.0026	33	c.80- others(48): Show c.80-1429_80-1428insGTGTGTGGGGGGCGCCCCTCCCCGCAGCTG TCC	ARHGAP8	ENSG00000241484.10	transcript	ENST00000356099.11	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ARHGAP8_chr22_44747575_44867784	44800649	A A	ATGTGTGG others(26): Show ATGTGTGGGGGGCGCCCCTCCCCGCAGCTGTCCG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0386 a0002c0006t0001g0386	1	390	0.0026	33	c.80- others(48): Show c.80-1396_80-1395insGTGTGTGGGGGGCGCCCCTCCCCGCAGCTG TCC	ARHGAP8	ENSG00000241484.10	transcript	ENST00000356099.11	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ARHGAP8_chr22_44747575_44867784	44800682	A A	ATGTGTGG others(26): Show ATGTGTGGGGGGCGCCCCTCCCCGCAGCTGTCCG	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0002 a0002	a0002c0041 a0002c0041	a0002c0041t0005 a0002c0041t0005	a0002c0041t0005g0289 a0002c0041t0005g0289	1	390	0.0026	33	c.80- others(48): Show c.80-1390_80-1358dupTGGGGGGCGCCCCTCCCCGCAGCTGTCCGT GTG	ARHGAP8	ENSG00000241484.10	transcript	ENST00000356099.11	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ARHGAP8_chr22_44747575_44867784	44800857	G G	GCGCCTCT others(26): Show GCGCCTCTCCCCGCAGCTGTCCGTGTGTGGGGGC	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18992.hp2 NA18993.hp2 others(3): Show NA18975.hp2 NA18992.hp2 NA18993.hp2 NA19011.hp2 NA19066.hp1 NA20905.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0019	a0001c0004 a0001c0008 a0002c0041 others(3): Show a0001c0004 a0001c0008 a0002c0041 a0003c0002 a0004c0012 a0019c0045	a0001c0004t0003 a0001c0008t0003 a0002c0041t0005 others(3): Show a0001c0004t0003 a0001c0008t0003 a0002c0041t0005 a0003c0002t0002 a0004c0012t0002 a0019c0045t0004	a0001c0004t0003g0088 a0001c0008t0003g0299 a0002c0041t0005g0289 others(3): Show a0001c0004t0003g0088 a0001c0008t0003g0299 a0002c0041t0005g0289 a0003c0002t0002g0254 a0004c0012t0002g0172 a0019c0045t0004g0295	6	390	0.0154	33	c.80- others(48): Show c.80-1068_80-1036dupCCGTGTGTGGGGGCCGCCTCTCCCCGCAGC TGT	ARHGAP8	ENSG00000241484.10	transcript	ENST00000356099.11	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ARHGAP8_chr22_44747575_44867784	44825816	A A	ATGCTCGC others(26): Show ATGCTCGCTGCTCGGTGCCTGGTTGGGGGGCGCG	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA18947.hp1 NA18975.hp1 others(7): Show HG00423.hp2 NA18947.hp1 NA18975.hp1 NA18979.hp2 NA18980.hp2 NA19004.hp1 NA19058.hp2 NA19084.hp2 NA19085.hp2 NA19091.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0003 a0002c0016 others(3): Show a0001c0001 a0002c0003 a0002c0016 a0003c0062 a0004c0012 a0004c0017	a0001c0001t0001 a0002c0003t0004 a0002c0016t0004 others(3): Show a0001c0001t0001 a0002c0003t0004 a0002c0016t0004 a0003c0062t0002 a0004c0012t0002 a0004c0017t0002	a0001c0001t0001g0097 a0001c0001t0001g0370 a0002c0003t0004g0253 others(7): Show a0001c0001t0001g0097 a0001c0001t0001g0370 a0002c0003t0004g0253 a0002c0016t0004g0199 a0002c0016t0004g0229 a0003c0062t0002g0255 a0004c0012t0002g0244 a0004c0012t0002g0328 a0004c0017t0002g0025 a0004c0017t0002g0183	10	390	0.0256	33	c.596 others(48): Show c.596+261_596+293dupCGCTGCTCGGTGCCTGGTTGGGGGGCGCGT GCT	ARHGAP8	ENSG00000241484.10	transcript	ENST00000356099.11	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ARHGEF10L_chr1_17534698_17702869	17686109	T T	TCTTTCTT others(26): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0043 a0001c0043	a0001c0043t0002 a0001c0043t0002	a0001c0043t0002g0051 a0001c0043t0002g0051	1	168	0.0060	33	c.301 others(52): Show c.3010-1464_3010-1463insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTC	ARHGEF10L	ENSG00000074964.17	transcript	ENST00000361221.8	protein_coding	26/28			chr1	TogoVar
ARHGEF10_chr8_1818926_1963641	1887415	C C	CCTGAGTG others(26): Show CCTGAGTGGGGTGTGAGGGGTCTGTGAGGAGACA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02897.hp2 HG06807.hp2 HG02559.hp2 HG02897.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0052 a0001c0145 a0001c0002 a0001c0052 a0001c0145	a0001c0002t0020 a0001c0052t0032 a0001c0145t0015 a0001c0002t0020 a0001c0052t0032 a0001c0145t0015	a0001c0002t0020g0206 a0001c0052t0032g0149 a0001c0145t0015g0150 a0001c0002t0020g0206 a0001c0052t0032g0149 a0001c0145t0015g0150	3	363	0.0083	33	c.118 others(52): Show c.1182+1739_1182+1740insCACTGAGTGGGGTGTGAGGGGTCTGT GAGGAGA	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	11/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1887447	T T	TACTGAGT others(26): Show TACTGAGTGGGGTGTGAGGGGTCTGTGAGGAGAC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01884.hp2 HG01074.hp2 HG01884.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0001 a0001c0004t0048 a0001c0003t0001 a0001c0004t0048	a0001c0003t0001g0220 a0001c0004t0048g0104 a0001c0003t0001g0220 a0001c0004t0048g0104	2	363	0.0055	33	c.118 others(52): Show c.1182+1774_1182+1806dupACTGAGTGGGGTGTGAGGGGTCTGTG AGGAGAC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	11/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF12_chr11_120331413_120494937	120367353	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0079 a0002c0003t0002g0079	1	308	0.0033	33	c.32+ others(50): Show c.32+30108_32+30109insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	ARHGEF12	ENSG00000196914.9	transcript	ENST00000397843.7	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr11	TogoVar
ARHGEF12_chr11_120331413_120494937	120399321	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0045 a0001c0002t0003g0045	1	308	0.0033	33	c.33- others(48): Show c.33-6767_33-6766insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	ARHGEF12	ENSG00000196914.9	transcript	ENST00000397843.7	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr11	TogoVar
ARHGEF18_chr19_7343937_7477478	7362020	A A	AAGAAGGA others(26): Show AAGAAGGAGAAGAAGGAGAAGAAGGAGAAGAAGG	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0003 a0002c0006t0003	a0002c0006t0003g0232 a0002c0006t0003g0232	1	298	0.0034	33	c.-11 others(50): Show c.-110-759_-110-758insAAGGAGAAGAAGGAGAAGAAGGAGAAGA AGGAG	ARHGEF18	ENSG00000104880.19	transcript	ENST00000668164.2	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
ARHGEF28_chr5_73621196_73946990	73737519	T T	TTTCTTTT others(26): Show TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0005 a0005	a0005c0069 a0005c0069	a0005c0069t0002 a0005c0069t0002	a0005c0069t0002g0122 a0005c0069t0002g0122	1	188	0.0053	33	c.34- others(50): Show c.34-12311_34-12310insCTTTTCTTTTCTTTTCTTTTCTTTTCTT CTTTT	ARHGEF28	ENSG00000214944.10	transcript	ENST00000513042.7	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
ARHGEF28_chr5_73621196_73946990	73806408	A A	AGTATGTA others(26): Show AGTATGTATATAGTATATATCTATATATAGTATG	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	188	0.0053	33	c.102 others(54): Show c.1024+11017_1024+11018insGTATGTATATAGTATATATCTATA TATAGTATG	ARHGEF28	ENSG00000214944.10	transcript	ENST00000513042.7	protein_coding	9/35			chr5	TogoVar
ARHGEF4_chr2_130831914_131052253	130926048	C C	CTTTCTTT others(26): Show CTTTCTTTCTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0003 a0003	a0003c0030 a0003c0030	a0003c0030t0004 a0003c0030t0004	a0003c0030t0004g0022 a0003c0030t0004g0022	1	144	0.0069	33	c.355 others(52): Show c.3553-4903_3553-4902insTTCTTTCTTCTTTCTTTCTTTCTTTC TTTCTTT	ARHGEF4	ENSG00000136002.21	transcript	ENST00000409359.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ARHGEF6_chrX_136660550_136785932	136663376	A A	ATATATAT others(26): Show ATATATATATATTATATATATATATTATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG02615.hp2 HG03239.hp1 others(1): Show HG01081.hp2 HG02615.hp2 HG03239.hp1 HG03834.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0009 a0001c0001 a0001c0002 a0005c0009	a0001c0001t0001 a0001c0001t0006 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0002 a0005c0009t0006	a0001c0001t0001g0060 a0001c0001t0006g0067 a0001c0002t0002g0171 others(1): Show a0001c0001t0001g0060 a0001c0001t0006g0067 a0001c0002t0002g0171 a0005c0009t0006g0086	4	247	0.0162	33	c.46 others(44): Show c.4652_*4653insATATATATAATATATATATATAATATATATATA	ARHGEF6	ENSG00000129675.16	transcript	ENST00000250617.7	protein_coding		2173		chrX	TogoVar
ARID1B_chr6_156772378_157215779	156897264	C C	CTTCTTCT others(26): Show CTTCTTCTTATTATTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	150	0.0067	33	c.198 others(52): Show c.1987-4110_1987-4109insCTTCTTATTATTATTATTATTATTAT TATTATT	ARID1B	ENSG00000049618.25	transcript	ENST00000636930.2	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
ARID4B_chr1_235161902_235333179	235236862	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0262	1	272	0.0037	33	c.586 others(50): Show c.586-2371_586-2370insAAAAATATATATATATATATATATATAT ATATA	ARID4B	ENSG00000054267.22	transcript	ENST00000264183.9	protein_coding	8/23			chr1	TogoVar
ARID4B_chr1_235161902_235333179	235236862	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	272	0.0037	33	c.586 others(50): Show c.586-2371_586-2370insAAAAAAATATATATATATATATATATAT ATATA	ARID4B	ENSG00000054267.22	transcript	ENST00000264183.9	protein_coding	8/23			chr1	TogoVar
ARID4B_chr1_235161902_235333179	235236862	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0167 a0001c0019t0001g0167	1	272	0.0037	33	c.586 others(50): Show c.586-2371_586-2370insAAAAAAAAATATATATATATATATATAT ATATA	ARID4B	ENSG00000054267.22	transcript	ENST00000264183.9	protein_coding	8/23			chr1	TogoVar
ARID5B_chr10_61896699_62101944	62099312	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0222 a0001c0001t0003g0222	1	242	0.0041	33	c.62 others(44): Show c.6282_*6283insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ARID5B	ENSG00000150347.17	transcript	ENST00000279873.12	protein_coding		2369		chr10	TogoVar
ARL14EPL_chr5_116027472_116064489	116040979	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0326 a0001c0001t0003g0326	1	462	0.0022	33	c.-10 others(50): Show c.-10+8488_-10+8489insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	ARL14EPL	ENSG00000268223.7	transcript	ENST00000686077.1	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
ARL14EP_chr11_30318104_30343223	30334208	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02135.hp2 NA18948.hp1 others(1): Show HG00438.hp2 HG02135.hp2 NA18948.hp1 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0105 a0001c0001t0001g0018 a0001c0001t0001g0105	4	400	0.0100	33	c.554 others(50): Show c.554+1240_554+1241insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	ARL14EP	ENSG00000152219.5	transcript	ENST00000282032.4	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr11	TogoVar
ARL6IP5_chr3_69079937_69111092	69110853	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0119 a0001c0002t0002g0119	1	434	0.0023	33	c.62 others(44): Show c.6217_*6218insAAAAAAAAAAAAAATATATATATATATATATAT	ARL6IP5	ENSG00000144746.7	transcript	ENST00000273258.4	protein_coding		4762		chr3	TogoVar
ARMC10_chr7_103070140_103104759	103099593	T T	TGTGTGTG others(26): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00735.hp2 HG01516.hp1 HG01516.hp2 others(1): Show HG00735.hp2 HG01516.hp1 HG01516.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0048 a0001c0001t0040 a0001c0001t0048	a0001c0001t0040g0018 a0001c0001t0040g0042 a0001c0001t0048g0026 others(1): Show a0001c0001t0040g0018 a0001c0001t0040g0042 a0001c0001t0048g0026 a0001c0001t0048g0050	4	390	0.0103	33	c.10 others(44): Show c.1040_*1041insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	ARMC10	ENSG00000170632.14	transcript	ENST00000323716.8	protein_coding	7/7	1041		chr7	TogoVar
ARMC5_chr16_31454501_31472165	31456482	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG03516.hp2 HG02922.hp2 HG03516.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0001 a0005c0010t0001	a0005c0010t0001g0024 a0005c0010t0001g0024	2	418	0.0048	33	c.-30 others(44): Show c.-3043_-3042insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ARMC5	ENSG00000140691.18	transcript	ENST00000268314.9	protein_coding		3018		chr16	TogoVar
ARMH3_chr10_101840599_102061173	101945213	C C	CAGCCAGT others(26): Show CAGCCAGTTCCAGAGCTGCATAGTGGAACTATGT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0128 a0001c0001t0002g0128	1	262	0.0038	33	c.170 others(52): Show c.1706-5308_1706-5276dupACATAGTTCCACTATGCAGCTCTGGA ACTGGCT	ARMH3	ENSG00000120029.13	transcript	ENST00000370033.9	protein_coding	22/25			chr10	TogoVar

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Search Results (Total: 4928 hits)