Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
HIGD1C_chr12_50947544_50975607	50948866	G G	GGGGGGAG others(96): Show GGGGGGAGGGGGGGGGAGGGGAGGGGGGAGGGGAGGGGGAGGGGAGGGGA GGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGAG GGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0019 a0001c0002t0001g0019	1	380	0.0026	103	c.-39 others(114): Show c.-3913_-3912insGGGGGAGGGGGGGGGAGGGGAGGGGGGAGGGGAG GGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGGAGG GGGAGGGGAGGGGAGGGGA	HIGD1C	ENSG00000214511.4	transcript	ENST00000695931.1	protein_coding		3677		chr12	TogoVar
HIGD1C_chr12_50947544_50975607	50948883	A A	AGGGGAGG others(96): Show AGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGA GGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGG GGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0001	1	380	0.0026	103	c.-38 others(114): Show c.-3896_-3895insGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGGAGG GGAGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGG AGGGGGAGGGGAGGGGGAG	HIGD1C	ENSG00000214511.4	transcript	ENST00000695931.1	protein_coding		3660		chr12	TogoVar
HIGD1C_chr12_50947544_50975607	50948889	G G	GGGGAGGG others(96): Show GGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGAG GGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGAGG GGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0042 a0001c0002t0002g0042	1	380	0.0026	103	c.-38 others(114): Show c.-3890_-3889insGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGGAGG GGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGG GAGGGGGAGGGGAGGGGGA	HIGD1C	ENSG00000214511.4	transcript	ENST00000695931.1	protein_coding		3654		chr12	TogoVar
HIGD1C_chr12_50947544_50975607	50948917	G G	GGGGGGAG others(96): Show GGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAG GGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAG GGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp1 HG03492.hp1 HG03490.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0168 a0001c0001t0001g0157 a0001c0001t0001g0168	2	380	0.0053	103	c.-38 others(114): Show c.-3862_-3861insGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGG GGAGGGGAGGGGGAGGGGA	HIGD1C	ENSG00000214511.4	transcript	ENST00000695931.1	protein_coding		3626		chr12	TogoVar
HIGD1C_chr12_50947544_50975607	50948931	G G	GGGAGGGG others(96): Show GGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGG GAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGG AGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19072.hp2 NA19087.hp1 NA19072.hp2 NA19087.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0019 a0001c0002t0001g0099 a0001c0002t0001g0019 a0001c0002t0001g0099	2	380	0.0053	103	c.-38 others(114): Show c.-3848_-3847insGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGG AGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGA GGGGGAGGGGAGGGGAGGA	HIGD1C	ENSG00000214511.4	transcript	ENST00000695931.1	protein_coding		3612		chr12	TogoVar
HIGD1C_chr12_50947544_50975607	50948931	G G	GGGGAGGG others(96): Show GGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGG GAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGG GGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18968.hp2 NA18982.hp1 NA18968.hp2 NA18982.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0024 a0001c0002t0002g0024	2	380	0.0053	103	c.-38 others(114): Show c.-3848_-3847insGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGG AGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGA GGGGGAGGGGAGGGGGGGA	HIGD1C	ENSG00000214511.4	transcript	ENST00000695931.1	protein_coding		3612		chr12	TogoVar
HIKESHI_chr11_86297240_86350943	86307382	A A	AAATATAT others(96): Show AAATATATATTATGTGTAGTATACATTATATATCAAATATATATTATGTG TAGTATACATTATATATCAAATATATTATGTGTAGTATACATTATATATC AAAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(99): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00544.hp1 HG00558.hp1 HG00738.hp1 HG01070.hp2 HG01071.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01358.hp1 HG01891.hp1 HG01952.hp2 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02080.hp2 HG02109.hp2 HG02148.hp2 HG02165.hp2 HG02258.hp1 HG02280.hp1 HG02293.hp1 HG02559.hp1 HG02602.hp1 HG02683.hp2 HG02738.hp1 HG02970.hp1 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG04115.hp2 HG04204.hp1 NA18522.hp1 NA18612.hp1 NA18939.hp2 NA18941.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18956.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18971.hp2 NA18977.hp1 NA18978.hp2 NA18982.hp1 NA18983.hp2 NA18985.hp2 NA18988.hp2 NA18990.hp1 NA18991.hp2 NA18993.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp2 NA19003.hp1 NA19006.hp1 NA19009.hp2 NA19054.hp1 NA19055.hp2 NA19058.hp2 NA19060.hp1 NA19063.hp1 NA19064.hp1 NA19068.hp2 NA19070.hp2 NA19077.hp2 NA19079.hp2 NA19082.hp1 NA19083.hp1 NA19086.hp1 NA19087.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA20300.hp1 NA20805.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0061 others(91): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0108 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0191 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0003g0146	102	398	0.2563	103	c.268 others(118): Show c.268+901_268+902insATATATATTATGTGTAGTATACATTATATA TCAAATATATATTATGTGTAGTATACATTATATATCAAATATATTATGTG TAGTATACATTATATATCAAATA	HIKESHI	ENSG00000149196.17	transcript	ENST00000278483.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
HIKESHI_chr11_86297240_86350943	86307382	A A	AAATATAT others(96): Show AAATATATATTATGTGTAGTATACTTTATATATCAAATATATATTATGTG TAGTATACATTATATATCAAATATATTATGTGTAGTATACATTATATATC AAAT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	398	0.0025	103	c.268 others(118): Show c.268+901_268+902insATATATATTATGTGTAGTATACTTTATATA TCAAATATATATTATGTGTAGTATACATTATATATCAAATATATTATGTG TAGTATACATTATATATCAAATA	HIKESHI	ENSG00000149196.17	transcript	ENST00000278483.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
HMOX1_chr22_35376096_35399207	35389340	T T	TTCTTTCT others(96): Show TTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCC TTCC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	1	384	0.0026	103	c.637 others(118): Show c.637-524_637-523insTCTTTCTTTCTTTCTTTCTTTCTTTTTCTT TCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTC TCTCTCTCTCTCTCTCTCCTTCC	HMOX1	ENSG00000100292.18	transcript	ENST00000216117.9	protein_coding	3/4			chr22	TogoVar
HOMEZ_chr14_23267422_23291132	23280710	T T	TTTTTATT others(96): Show TTTTTATTTTATTTTATTTTATTTTATTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0194 a0002c0002t0002g0194	1	394	0.0025	103	c.41- others(118): Show c.41-3524_41-3523insTAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAATA AAATAAAATAAAATAAAATAAAA	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	1/1			chr14	TogoVar
HSF1_chr8_144286604_144319720	144313788	G G	GCGCCGCC others(96): Show GCGCCGCCTCCCCGCCTCCCCGCGCCGCCTCCCCGCCTCCCCGCGCCGCC TCCCCGCGCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCC GCCT	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	330	0.0030	103	c.124 others(118): Show c.1249-57_1249-56insGCCGCCTCCCCGCCTCCCCGCGCCGCCTCC CCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCCTCCCCGCCTCC CCGCCTCCCCGCCTCCCCGCCTC	HSF1	ENSG00000185122.11	transcript	ENST00000528838.6	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
HSF1_chr8_144286604_144319720	144313788	G G	GCGCCGCC others(96): Show GCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCC CCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCC GCCT	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0069 a0002c0002t0001g0069	1	330	0.0030	103	c.124 others(118): Show c.1249-57_1249-56insGCCGCCTCCCCGCGCCGCCTCCCCGCGCCG CCTCCCCGCGCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCC CCGCCTCCCCGCCTCCCCGCCTC	HSF1	ENSG00000185122.11	transcript	ENST00000528838.6	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
IFNGR1_chr6_137192485_137224385	137199500	A A	AATATAAT others(96): Show AATATAATTTATAATATATAATATATAATATATAATATATTATATATTAT ATATAATATATAATTTATTATATATTATATATAATATATAATTTATTATA TATT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0114 a0001c0001t0002g0114	1	390	0.0026	103	c.862 others(118): Show c.862-862_862-861insAATATATAATAAATTATATATTATATATAA TATATAATAAATTATATATTATATATAATATATAATATATTATATATTAT ATATTATATATTATAAATTATAT	IFNGR1	ENSG00000027697.16	transcript	ENST00000367739.9	protein_coding	6/6			chr6	TogoVar
IL1RAP_chr3_190509085_190656514	190621826	A A	ATATGGTT others(96): Show ATATGGTTAATATATGGCCAAATCAGGATTAGAACTTGGTTATTAAATCT TTGGAGCTCATACTTTTGAAGACAATACTAAAAACTCTACTCAATGTATT TTTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01081.hp2 HG02451.hp2 others(11): Show HG01074.hp2 HG01081.hp2 HG02451.hp2 HG02615.hp1 HG02622.hp2 HG02723.hp1 HG03225.hp1 HG03471.hp1 HG03516.hp2 HG03927.hp1 NA18940.hp1 NA18970.hp2 NA18980.hp1 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0009	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0002t0003 a0001c0004t0004 a0001c0009t0001	a0001c0001t0001g0028 a0001c0001t0001g0042 a0001c0001t0001g0072 others(11): Show a0001c0001t0001g0028 a0001c0001t0001g0042 a0001c0001t0001g0072 a0001c0001t0001g0163 a0001c0001t0001g0173 a0001c0001t0001g0192 a0001c0001t0001g0229 a0001c0001t0005g0154 a0001c0001t0006g0050 a0001c0002t0001g0034 a0001c0002t0003g0252 a0001c0004t0004g0120 a0001c0004t0004g0121 a0001c0009t0001g0182	14	270	0.0519	103	c.704 others(120): Show c.704-1419_704-1418insTTTTTATGGTTAATATATGGCCAAATCA GGATTAGAACTTGGTTATTAAATCTTTGGAGCTCATACTTTTGAAGACAA TACTAAAAACTCTACTCAATGTATT	IL1RAP	ENSG00000196083.11	transcript	ENST00000447382.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
INO80_chr15_40973880_41121280	41031547	G G	GAAGGGAG others(96): Show GAAGGGAGGAGGGAGGAAGGGGAGGGAGGGAGGAGGGAGGAAGGGAGGAA GGGAGGAGGGAGGAAGGGAGGGAGGAAGGGAGAAAGGGAGGAAGGGAGGG AGGA	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0127 a0001c0001t0002g0127	1	282	0.0036	103	c.290 others(122): Show c.2908-3812_2908-3811insTCCTCCCTCCCTTCCTCCCTTTCTCC CTTCCTCCCTCCCTTCCTCCCTCCTCCCTTCCTCCCTTCCTCCCTCCTCC CTCCCTCCCCTTCCTCCCTCCTCCCTT	INO80	ENSG00000128908.19	transcript	ENST00000648947.1	protein_coding	24/35			chr15	TogoVar
IQCE_chr7_2553979_2619728	2577664	C C	CGGGGACG others(96): Show CGGGGACGTGTGTGCGGCGTATACGCATTGGCGTGTGCGTGGCTGTGCGC GCGGGGACGTGTGTGCGGCGTGCCCGCATTGGCGTGTGCGTGGCTGTGCG CGCG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0007 a0007	a0007c0037 a0007c0037	a0007c0037t0035 a0007c0037t0035	a0007c0037t0035g0014 a0007c0037t0035g0014	1	416	0.0024	103	c.466 others(118): Show c.466-559_466-558insATACGCATTGGCGTGTGCGTGGCTGTGCGC GCGGGGACGTGTGTGCGGCGTGCCCGCATTGGCGTGTGCGTGGCTGTGCG CGCGGGGGACGTGTGTGCGGCGT	IQCE	ENSG00000106012.19	transcript	ENST00000402050.7	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr7	TogoVar
IQCE_chr7_2553979_2619728	2577817	C C	CGGGGACG others(96): Show CGGGGACGTGTGTGCGGCGTGCCCGCATTGGCGTGTGCGTGGCTGTGCGC GCGGGGACGTGTGTGCGGCGTGCCCGCATTGGCGTGTGCGTGGCTGTGCG CGCG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0050 a0007c0016t0050	a0007c0016t0050g0266 a0007c0016t0050g0266	1	416	0.0024	103	c.466 others(118): Show c.466-404_466-403insCCGCATTGGCGTGTGCGTGGCTGTGCGCGC GGGGACGTGTGTGCGGCGTGCCCGCATTGGCGTGTGCGTGGCTGTGCGCG CGGGGGACGTGTGTGCGGCGTGC	IQCE	ENSG00000106012.19	transcript	ENST00000402050.7	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr7	TogoVar
JAG2_chr14_105135995_105173776	105149919	G G	GGGGGGAG others(96): Show GGGGGGAGGCAGGGTTGGGGGAGGTGGGGAAGGGGGTGGTAGGGAGGTGG GTGGGGGGAGGCAGGGTTGGGGGAGGTGGGGAAGGGGGTGGTAGGGAGGT GGGT	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0138 a0003c0003t0003g0138	1	364	0.0028	103	c.160 others(120): Show c.1603-600_1603-599insACCCACCTCCCTACCACCCCCTTCCCCA CCTCCCCCAACCCTGCCTCCCCCCACCCACCTCCCTACCACCCCCTTCCC CACCTCCCCCAACCCTGCCTCCCCC	JAG2	ENSG00000184916.9	transcript	ENST00000331782.8	protein_coding	12/25			chr14	TogoVar
JAKMIP2_chr5_147580438_147787728	147764930	G G	GAAAGAAA others(96): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0215 a0001c0004t0003g0215	1	250	0.0040	103	c.-14 others(124): Show c.-149+17525_-149+17526insTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTT	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21			chr5	TogoVar
JAKMIP3_chr10_132060946_132189858	132159933	C C	CTCCCTGT others(96): Show CTCCCTGTGTGATGCTGGGGGGGTCTCCCTGTGTGATGCTGGGGGCGTGT CTTCCTGTGTGATGCTGGGGGGCCTCTCGCTGTGTGATGCTGGGGGCGTG TCTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0006 a0002c0016t0006	a0002c0016t0006g0052 a0002c0016t0006g0052	1	158	0.0063	103	c.222 others(122): Show c.2221-3276_2221-3275insTCCCTGTGTGATGCTGGGGGGGTCTC CCTGTGTGATGCTGGGGGCGTGTCTTCCTGTGTGATGCTGGGGGGCCTCT CGCTGTGTGATGCTGGGGGCGTGTCTT	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23			chr10	TogoVar
JARID2_chr6_15241069_15527042	15469354	T T	TCCTCCCC others(96): Show TCCTCCCCTTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCT CTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCT CCCC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02602.hp2 HG02896.hp1 others(3): Show HG00323.hp1 HG02602.hp2 HG02896.hp1 HG04199.hp2 NA18948.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0008 a0001c0002t0001 a0001c0001t0002 a0001c0001t0008 a0001c0002t0001	a0001c0001t0002g0095 a0001c0001t0008g0041 a0001c0002t0001g0043 others(3): Show a0001c0001t0002g0095 a0001c0001t0008g0041 a0001c0002t0001g0043 a0001c0002t0001g0172 a0001c0002t0001g0211 a0001c0002t0001g0253	6	284	0.0211	103	c.670 others(118): Show c.670+637_670+638insCTCCCCTTCTCCCCCTCTCCCCCTCTCCCC CTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCT CTCCCCCTCTCCCCCTCTCCCCC	JARID2	ENSG00000008083.14	transcript	ENST00000341776.7	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
JPH2_chr20_44101590_44192188	44134335	T T	TATAATAT others(96): Show TATAATATATATAATAAATATATATTTATATATATTATAATAAAATATAT ATAAATAAATATATTATAATAAATATATATAAATATATATTTATTATATA AATA	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0029 a0002c0002t0003g0029	1	338	0.0030	103	c.117 others(124): Show c.1170-15713_1170-15712insTATTTATATAATAAATATATATTT ATATATATTTATTATAATATATTTATTTATATATATTTTATTATAATATA TATAAATATATATTTATTATATATATTAT	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
KIAA0930_chr22_45187244_45245894	45229012	A A	ACTCACCC others(96): Show ACTCACCCGAAAGATCCCTCCCCATCCCCCCAACCACTCACCCGAAAGAT CCCTCTCCACCCCCCAACCACTCACCTGAGAGATCCCTCTCCACCCCCGC CATC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG03704.hp1 HG01261.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0104 a0001c0001t0051 a0001c0001t0104	a0001c0001t0051g0303 a0001c0001t0104g0031 a0001c0001t0051g0303 a0001c0001t0104g0031	2	398	0.0050	103	c.64+ others(120): Show c.64+11627_64+11628insGATGGCGGGGGTGGAGAGGGATCTCTCA GGTGAGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTTGGGGG GATGGGGAGGGATCTTTCGGGTGAG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIF17_chr1_20659014_20723007	20712606	A A	ATATTATA others(96): Show ATATTATATATATAGATATTATCTATATTATATATATAGATAATATTATC TATATATATAATATAGATAATATTATCTATATATATAATATAGATAATAT TATC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01109.hp1 others(9): Show HG01069.hp2 HG01071.hp1 HG01109.hp1 HG01243.hp1 HG01891.hp2 HG02486.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG03471.hp1 HG03540.hp2 HG06807.hp1	a0003 a0004 a0008 others(2): Show a0003 a0004 a0008 a0010 a0011	a0003c0026 a0004c0057 a0004c0131 others(3): Show a0003c0026 a0004c0057 a0004c0131 a0008c0012 a0010c0033 a0011c0034	a0003c0026t0001 a0003c0026t0002 a0004c0057t0001 others(4): Show a0003c0026t0001 a0003c0026t0002 a0004c0057t0001 a0004c0131t0006 a0008c0012t0002 a0010c0033t0001 a0011c0034t0001	a0003c0026t0001g0382 a0003c0026t0001g0386 a0003c0026t0002g0384 others(9): Show a0003c0026t0001g0382 a0003c0026t0001g0386 a0003c0026t0002g0384 a0003c0026t0002g0385 a0004c0057t0001g0360 a0004c0057t0001g0381 a0004c0131t0006g0380 a0008c0012t0002g0372 a0010c0033t0001g0376 a0011c0034t0001g0378 a0011c0034t0001g0379 a0011c0034t0001g0383	12	414	0.0290	103	c.480 others(118): Show c.480+847_480+848insGATAATATTATCTATATTATATATATAGAT AATATTATCTATATTATATATATAGATAATATTATCTATATATATAATAT AGATAATATCTATATATATAATA	KIF17	ENSG00000117245.13	transcript	ENST00000400463.8	protein_coding	3/14			chr1	TogoVar
KIF27_chr9_83829099_83926432	83848063	T T	TATATATA others(96): Show TATATATATGATATATCATATATATCATATATGATATATCATATATGATA TATATGATATATCATATATATGATATATATGATATATCATATATGATATA TATG	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0317 a0001c0002t0002g0317	1	346	0.0029	103	c.355 others(122): Show c.3556+2035_3556+2036insCATATATATCATATATGATATATCAT ATATATCATATATATGATATATCATATATATCATATATGATATATCATAT ATGATATATATGATATATCATATATAT	KIF27	ENSG00000165115.15	transcript	ENST00000297814.7	protein_coding	16/17			chr9	TogoVar
KIF27_chr9_83829099_83926432	83848157	T T	TATATCAT others(96): Show TATATCATATATCTGATATATCTGATATATCATATATCTGATATATCTGA TATATCATATATGATATATCTGATATATCTGATATATCATATATGATATA TCAG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02723.hp1 HG02280.hp2 HG02723.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0270 a0001c0002t0007g0274 a0001c0002t0007g0270 a0001c0002t0007g0274	2	346	0.0058	103	c.355 others(122): Show c.3556+1941_3556+1942insCTGATATATCATATATGATATATCAG ATATATCAGATATATCATATATGATATATCAGATATATCAGATATATGAT ATATCAGATATATCAGATATATGATAT	KIF27	ENSG00000165115.15	transcript	ENST00000297814.7	protein_coding	16/17			chr9	TogoVar
KLHL25_chr15_85754326_85799925	85757581	T T	TCCTCCTC others(96): Show TCCTCCTCCTCCTCCCCCTCCCCCTCCTCCTCCCCCTCCTCCCCCTCCTC CTCCTCCCCCTTCCTCCCCCTCCTCCCTCCCCTCCCCCTCCTCCCTCCCC TCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02109.hp2 HG02622.hp2 others(6): Show HG01884.hp1 HG02109.hp2 HG02622.hp2 HG02630.hp1 HG02818.hp1 HG02897.hp1 HG02970.hp2 HG03098.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0006 a0002c0003t0006 a0002c0003t0032 a0001c0001t0006 a0002c0003t0006 a0002c0003t0032	a0001c0001t0006g0046 a0001c0001t0006g0047 a0002c0003t0006g0051 others(6): Show a0001c0001t0006g0046 a0001c0001t0006g0047 a0002c0003t0006g0051 a0002c0003t0006g0053 a0002c0003t0006g0055 a0002c0003t0006g0063 a0002c0003t0006g0064 a0002c0003t0006g0065 a0002c0003t0032g0042	9	406	0.0222	103	c.34 others(114): Show c.3454_*3455insGGGAGGGGAGGGAGGAGGGGGAGGGGAGGGAGGA GGGGGAGGAAGGGGGAGGAGGAGGAGGGGGAGGAGGGGGAGGAGGAGGGG GAGGGGGAGGAGGAGGAGG	KLHL25	ENSG00000183655.13	transcript	ENST00000337975.6	protein_coding		1744		chr15	TogoVar
LIG4_chr13_108202442_108220536	108215430	C C	CCCCCCAC others(96): Show CCCCCCACCTCCCAACCCCCCACCCCCCCCGCCCCCACCTCCCAACCCCC CACCCCCCCGCCCCCCACCTCCCAACCCCCCACCCCCCCCGCCCCCACCT CCCA	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0051 a0005c0006t0001g0051	1	374	0.0027	103	c.-10 others(118): Show c.-102+53_-102+54insTGGGAGGTGGGGGCGGGGGGGGTGGGGGGT TGGGAGGTGGGGGGCGGGGGGGTGGGGGGTTGGGAGGTGGGGGCGGGGGG GGTGGGGGGTTGGGAGGTGGGGG	LIG4	ENSG00000174405.15	transcript	ENST00000442234.6	protein_coding	1/2			chr13	TogoVar
LIPG_chr18_49557057_49604185	49579101	A A	AGAGGGAG others(96): Show AGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GGAG	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0071 a0002c0002t0071	a0002c0002t0071g0362 a0002c0002t0071g0362	1	384	0.0026	103	c.794 others(120): Show c.794-2286_794-2285insAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGGAGGAG GGAGAGGGAGAGGGAGAGGGAGAGG	LIPG	ENSG00000101670.12	transcript	ENST00000261292.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
LOC114841035_chr11_64236095_64249132	64237123	G G	GAGAGAGA others(96): Show GAGAGAGAGAGAGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGATATATATATATATATATATATATATATATA TATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	330	0.0030	103	c.-41 others(114): Show c.-4157_-4156insAGAGAGAGAGAGAGAGAAAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGATATATATATATATAT ATATATATATATATATATA	LOC114841035	ENSG00000286264.2	transcript	ENST00000652762.2	protein_coding		3971		chr11	TogoVar
LOC114841035_chr11_64236095_64249132	64237123	G G	GAGAGAGA others(96): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGATATATATATATATATATATATATATATATATA TATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	330	0.0030	103	c.-41 others(114): Show c.-4157_-4156insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGATATATATATATATATAT ATATATATATATATATATA	LOC114841035	ENSG00000286264.2	transcript	ENST00000652762.2	protein_coding		3971		chr11	TogoVar
LPCAT1_chr5_1456427_1528960	1511548	T T	TTGGGGAT others(96): Show TTGGGGATGCACCTGCTCACCTCGCTCACCCTACGTGGGGACGTCACCTG CTCACCTCGCTCACCCTACTTGGGGATGCACCTGCTCACCTCGCTCACCC TACG	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18970.hp2 NA19011.hp1 NA18956.hp1 NA18970.hp2 NA19011.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0006 a0001c0003 a0002c0006	a0001c0003t0016 a0002c0006t0038 a0001c0003t0016 a0002c0006t0038	a0001c0003t0016g0368 a0001c0003t0016g0369 a0002c0006t0038g0370 a0001c0003t0016g0368 a0001c0003t0016g0369 a0002c0006t0038g0370	3	386	0.0078	103	c.136 others(120): Show c.136-9946_136-9945insCGTAGGGTGAGCGAGGTGAGCAGGTGCA TCCCCAAGTAGGGTGAGCGAGGTGAGCAGGTGACGTCCCCACGTAGGGTG AGCGAGGTGAGCAGGTGCATCCCCA	LPCAT1	ENSG00000153395.10	transcript	ENST00000283415.4	protein_coding	1/13			chr5	TogoVar
LRRK1_chr15_100914357_101083257	100962821	A A	ACACATAT others(96): Show ACACATATATATATATACATATATATATACATATATATATATACATATAT ATATATATACATATATATATATACATATATATATATATATATATTTTTTT TTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0048 a0001c0048	a0001c0048t0191 a0001c0048t0191	a0001c0048t0191g0004 a0001c0048t0191g0004	1	338	0.0030	103	c.98- others(120): Show c.98-10983_98-10982insCACATATATATATATACATATATATATA CATATATATATATACATATATATATATATACATATATATATATACATATA TATATATATATATATTTTTTTTTTT	LRRK1	ENSG00000154237.13	transcript	ENST00000388948.8	protein_coding	2/33			chr15	TogoVar
LYPD8_chr1_248734415_248760759	248753280	A A	ACAACACA others(96): Show ACAACACACACACCACAACACACACACCCCACACACAAACACCCCACACA CCACACACACCACATCACACACACACATCACACCCCACACACACACCACA CACC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03209.hp2 NA18906.hp2 HG02630.hp2 HG03209.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0078 a0001c0001t0005g0079 a0001c0001t0005g0080 a0001c0001t0002g0078 a0001c0001t0005g0079 a0001c0001t0005g0080	3	374	0.0080	103	c.-50 others(120): Show c.-50+1958_-50+1959insGGTGTGTGGTGTGTGTGTGGGGTGTGAT GTGTGTGTGTGATGTGGTGTGTGTGGTGTGTGGGGTGTTTGTGTGTGGGG TGTGTGTGTTGTGGTGTGTGTGTTG	LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	2/6			chr1	TogoVar
LYPD8_chr1_248734415_248760759	248753280	A A	ACAACACA others(96): Show ACAACACACACACCACAACACACACACCCCACACACAAACACCCCACACA CCACACACACCACATCACACACACACATCACACCCCACACATACACCACA CACC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG00438.hp1 others(58): Show HG00099.hp1 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00673.hp1 HG01081.hp2 HG01168.hp1 HG01169.hp1 HG01891.hp1 HG02027.hp1 HG02040.hp2 HG02109.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02280.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02647.hp1 HG03486.hp2 HG03579.hp1 NA18522.hp2 NA18941.hp1 NA18941.hp2 NA18947.hp1 NA18948.hp1 NA18951.hp1 NA18952.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18967.hp2 NA18980.hp1 NA18983.hp1 NA18984.hp2 NA18986.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp2 NA18994.hp1 NA19004.hp2 NA19009.hp2 NA19010.hp2 NA19056.hp1 NA19057.hp1 NA19072.hp2 NA19077.hp2 NA19079.hp1 NA19081.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp2 NA19089.hp1 NA19090.hp1	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0004c0004 a0006c0008 a0001c0001 a0004c0004 a0006c0008	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0004c0004t0002 a0006c0008t0002	a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0011 others(41): Show a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0077 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0003g0092 a0001c0001t0006g0047 a0001c0001t0006g0048 a0004c0004t0002g0044 a0006c0008t0002g0062	61	374	0.1631	103	c.-50 others(120): Show c.-50+1958_-50+1959insGGTGTGTGGTGTATGTGTGGGGTGTGAT GTGTGTGTGTGATGTGGTGTGTGTGGTGTGTGGGGTGTTTGTGTGTGGGG TGTGTGTGTTGTGGTGTGTGTGTTG	LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	2/6			chr1	TogoVar
MAEA_chr4_1284891_1345137	1326921	G G	GCAAGCTT others(96): Show GCAAGCTTGCTTCTCTGCCTCATGCCCCTGTGAGGCACCAGCCAGCAACC CCACATGTGGTCCCTGTCTCCTCCCCGCCCTGCCGACCTGGGTCCTGCCT GCTC	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0335 a0001c0001t0001g0335	1	388	0.0026	103	c.580 others(118): Show c.580-659_580-557dupACCCCACATGTGGTCCCTGTCTCCTCCCCG CCCTGCCGACCTGGGTCCTGCCTGCTCCAAGCTTGCTTCTCTGCCTCATG CCCCTGTGAGGCACCAGCCAGCA	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAEA_chr4_1284891_1345137	1333897	C C	CCGTGTGC others(96): Show CCGTGTGCTCACCCCTGCATCCACCCCCATGCCCACCGTGTGCTCACCCC TGTGCTCACCCCTGTGCCCACCCCATGCCCACCATGTGCTCACCCCTGTG CCCA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0295 a0001c0001t0004g0295	1	388	0.0026	103	c.765 others(120): Show c.765+1033_765+1034insGTGTGCTCACCCCTGCATCCACCCCCAT GCCCACCGTGTGCTCACCCCTGTGCTCACCCCTGTGCCCACCCCATGCCC ACCATGTGCTCACCCCTGTGCCCAC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAN2B2_chr4_6570189_6628362	6579111	T T	TCACCACC others(96): Show TCACCACCACCACCACCACCACCACCATCACCACCACCACCCTTCACCAC CATCACCACCACCACCATCACCACCACCATCACCATCACCACCACCACCA TCAC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0029 a0002c0002t0001g0029	1	362	0.0028	103	c.391 others(118): Show c.391+618_391+619insCCACCACCACCACCACCACCATCACCACCA CCACCCTTCACCACCATCACCACCACCACCATCACCACCACCATCACCAT CACCACCACCACCATCACCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAP3K15_chrX_19355059_19520508	19477974	A A	AGAGAGGG others(96): Show AGAGAGGGAGGGAGGGGTGGGGAGAGAGAGAGAGAGGGAGGGAGGGATGG GGGAGAGAGAGGGGAGAGGGGGGAGAGAGGTGGGGGAGAGGGGGGAGAGA GGTG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0030 a0002c0002t0002g0030	1	163	0.0061	103	c.525 others(120): Show c.525+8507_525+8508insCACCTCTCTCCCCCCTCTCCCCCACCTC TCTCCCCCCTCTCCCCTCTCTCTCCCCCATCCCTCCCTCCCTCTCTCTCT CTCTCCCCACCCCTCCCTCCCTCTC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MAP3K15_chrX_19355059_19520508	19478079	G G	GAGGGGAG others(96): Show GAGGGGAGAGAGGGGGAGAGAGGGGGAGAGAGGGGGAGGGGGAGAGAGGG GGAGGGGGAGAGAGGGGGAGGGGGAGAGAGGGGGAGGGGGAGAGGGGGGA GAGA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02965.hp1 HG01884.hp1 HG02965.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0009 a0002c0003t0014 a0002c0003t0009 a0002c0003t0014	a0002c0003t0009g0157 a0002c0003t0014g0022 a0002c0003t0009g0157 a0002c0003t0014g0022	2	163	0.0123	103	c.525 others(120): Show c.525+8402_525+8403insTCTCTCCCCCCTCTCCCCCTCCCCCTCT CTCCCCCTCCCCCTCTCTCCCCCTCCCCCTCTCTCCCCCTCCCCCTCTCT CCCCCTCTCTCCCCCTCTCTCCCCT	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MAP4K4_chr2_101692707_101899690	101759670	C C	CCCCCTCC others(96): Show CCCCCTCCCCAGTTCCCCTCCCACTCCGCTCCCCATTCCCCTCCACCTCC CCTCCCCTCCCCATTCCCCTCCACCTCCCCTCCCCATTCCCCTCCCCCTC CTTT	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0284 a0001c0001t0002g0284	1	310	0.0032	103	c.124 others(122): Show c.124-31040_124-31039insGTTCCCCTCCCACTCCGCTCCCCATT CCCCTCCACCTCCCCTCCCCTCCCCATTCCCCTCCACCTCCCCTCCCCAT TCCCCTCCCCCTCCTTTCCCCTCCCCA	MAP4K4	ENSG00000071054.17	transcript	ENST00000324219.9	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP4K4_chr2_101692707_101899690	101759670	C C	CCCCCTCC others(96): Show CCCCCTCCCCATTCCCCTCCCACTCCGCTCCCCATTCCCCTCCACCTCCC CTCCCCCTCCCCATTCCCCTCCACCTCCCCTCCCCATTCCCCTCCCCCTC CTTT	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	310	0.0032	103	c.124 others(122): Show c.124-31030_124-31029insACTCCGCTCCCCATTCCCCTCCACCT CCCCTCCCCCTCCCCATTCCCCTCCACCTCCCCTCCCCATTCCCCTCCCC CTCCTTTCCCCTCCCCATTCCCCTCCC	MAP4K4	ENSG00000071054.17	transcript	ENST00000324219.9	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP4K4_chr2_101692707_101899690	101759670	C C	CCCCCTCC others(96): Show CCCCCTCCCCATTCCCCTCCCACTCCGCTCCCCATTCCCCTCCACCTCCC CTCCCCTCCCCATTCCCCTCCACCTCCCCTCCCCATTCCCCTCCCCCCTC CTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	310	0.0032	103	c.124 others(122): Show c.124-31030_124-31029insACTCCGCTCCCCATTCCCCTCCACCT CCCCTCCCCTCCCCATTCCCCTCCACCTCCCCTCCCCATTCCCCTCCCCC CTCCTTTCCCCTCCCCATTCCCCTCCC	MAP4K4	ENSG00000071054.17	transcript	ENST00000324219.9	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP4K4_chr2_101692707_101899690	101759682	T T	TCCCCTCC others(96): Show TCCCCTCCCACTCCGCTCCCCATTCCCCTCCACCTCCCCTCCCCTCCCCA TTCCCCTCCACCTCCCCTCCCCATTCCCCTCCCCCTCCTTTCCCCTCCCC ATTC	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0248 a0001c0001t0002g0248	1	310	0.0032	103	c.124 others(122): Show c.124-31030_124-31029insACTCCGCTCCCCATTCCCCTCCACCT CCCCTCCCCTCCCCATTCCCCTCCACCTCCCCTCCCCATTCCCCTCCCCC TCCTTTCCCCTCCCCATTCCCCCTCCC	MAP4K4	ENSG00000071054.17	transcript	ENST00000324219.9	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP4K4_chr2_101692707_101899690	101759687	T T	TCCCACTC others(96): Show TCCCACTCCGCTCCCCATTCCCCTCCACCTCCCCTCCCCTCCCCATTCCC CTCCACCTCCCCTCCCCATTCCCCTCCCCCTCCTTTCCCCTCCCCATTCC CCTC	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	310	0.0032	103	c.124 others(122): Show c.124-31030_124-31029insACTCCGCTCCCCATTCCCCTCCACCT CCCCTCCCCTCCCCATTCCCCTCCACCTCCCCTCCCCATTCCCCTCCCCC TCCTTTCCCCTCCCCATTCCCCTCCCC	MAP4K4	ENSG00000071054.17	transcript	ENST00000324219.9	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr2	TogoVar
MAPK11_chr22_50258713_50275380	50274854	C C	CCCCAGTA others(96): Show CCCCAGTATCCCTCCCAGCCCCCTCCACCTCCCAGCACCACCCCCAGCAT CCCTCCCAGCCCCCTCCACCTCCCCCAGCATCCCTCCCAGCCCCCTCCAC CTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02717.hp1 HG03209.hp2 others(3): Show HG02109.hp1 HG02717.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0001t0001 a0001c0001t0002 a0001c0001t0013	a0001c0001t0001g0027 a0001c0001t0001g0106 a0001c0001t0002g0085 others(3): Show a0001c0001t0001g0027 a0001c0001t0001g0106 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0091 a0001c0001t0013g0104	6	428	0.0140	103	c.-45 others(114): Show c.-4563_-4562insAAAGGTGGAGGGGGCTGGGAGGGATGCTGGGGGA GGTGGAGGGGGCTGGGAGGGATGCTGGGGGTGGTGCTGGGAGGTGGAGGG GGCTGGGAGGGATACTGGG	MAPK11	ENSG00000185386.15	transcript	ENST00000330651.11	protein_coding		4475		chr22	TogoVar
MARCHF1_chr4_163519718_164389019	163894910	T T	TATACATG others(96): Show TATACATGCATGTGATGCATATATACATGCATGTGATGCATATATACATG CATGTGATGCATATATACATGCATGTGATGCATATATATACATGCATGTG ATGC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0070 a0001c0001t0020g0070	1	102	0.0098	103	c.-38 others(122): Show c.-38-40742_-38-40741insGCATCACATGCATGTATATATATGCA TCACATGCATGTATATATGCATCACATGCATGTATATATGCATCACATGC ATGTATATATGCATCACATGCATGTAT	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	3/9			chr4	TogoVar
MBP_chr18_76973833_77137783	76975154	C C	CCTTTTCT others(96): Show CCTTTTCTTTTCTTTTCTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0071 a0001c0002t0001g0071	1	396	0.0025	103	c.52 others(114): Show c.5272_*5273insAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAGAAAAGAAAAGAAAAG	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding		3678		chr18	TogoVar
MCTP2_chr15_94226561_94488952	94464244	A A	ATATTATA others(96): Show ATATTATATATATATATTATATATATATTATATATATATATTATATATAT ATTATATATATATATTATATATATATATTATATATATATATTATATATAT ATAT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02602.hp2 HG01175.hp1 HG02602.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0001 a0002c0004t0010 a0001c0002t0001 a0002c0004t0010	a0001c0002t0001g0006 a0002c0004t0010g0063 a0001c0002t0001g0006 a0002c0004t0010g0063	2	276	0.0073	103	c.236 others(122): Show c.2360+6001_2360+6002insTATATATATATATTATATATATATTA TATATATATATTATATATATATTATATATATATATTATATATATATATTA TATATATATATTATATATATATATTAT	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCTP2_chr15_94226561_94488952	94464265	A A	ATATATTA others(96): Show ATATATTATATATATATAATATATATATATATTATATATATATAATATAT ATATATATTATATATATATTATATATATATTATATATATATTATATATAT ATAT	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18999.hp1 NA18982.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0147 a0001c0002t0001g0112 a0001c0001t0001g0147 a0001c0002t0001g0112	2	276	0.0073	103	c.236 others(122): Show c.2360+6024_2360+6025insTATATATATATAATATATATATATAT TATATATATATAATATATATATATATTATATATATATTATATATATATTA TATATATATTATATATATATATTATAT	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr15	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)