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.

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
KCNMB1_chr5_170369671_170394367	170390517	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00741.hp2 HG01106.hp2 others(1): Show HG00099.hp1 HG00741.hp2 HG01106.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0033 a0001c0001t0003 a0001c0001t0011 a0001c0001t0033	a0001c0001t0003g0019 a0001c0001t0011g0106 a0001c0001t0033g0046 a0001c0001t0003g0019 a0001c0001t0011g0106 a0001c0001t0033g0046	4	432	0.0093	23	c.-12 others(34): Show c.-1284_-1283insATATATATATATTTTTTTTTTTT	KCNMB1	ENSG00000145936.9	transcript	ENST00000274629.9	protein_coding		1151		chr5	TogoVar
KCNMB2_chr3_178531436_178849429	178691107	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02965.hp1 HG03942.hp1 HG01109.hp2 HG02965.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0093 a0001c0001t0003g0107 a0001c0001t0004g0109 a0001c0001t0003g0093 a0001c0001t0003g0107 a0001c0001t0004g0109	3	232	0.0129	23	c.-67 others(44): Show c.-67-116216_-67-116215insTTTTTTTTTTTTTTTTTTTTTTT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758138	G G	GGATATAT others(16): Show GGATATATATATATGTACACACAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02809.hp2 HG02280.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0008 a0001c0001t0002 a0001c0002t0008	a0001c0001t0002g0221 a0001c0002t0008g0018 a0001c0001t0002g0221 a0001c0002t0008g0018	2	232	0.0086	23	c.-67 others(42): Show c.-67-49192_-67-49191insGTACACACAAGATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178759402	G G	GGATATAT others(16): Show GGATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01952.hp1 HG01975.hp2 HG01346.hp1 HG01952.hp1 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0007 a0001c0001t0004g0078 a0001c0001t0004g0181 a0001c0001t0004g0007 a0001c0001t0004g0078 a0001c0001t0004g0181	3	232	0.0129	23	c.-67 others(42): Show c.-67-47941_-67-47940insGATATATATATATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4			chr3	TogoVar
KCNN1_chr19_17962107_18005085	18004481	A A	AACAACGG others(16): Show AACAACGGAGGAGGAGGAAAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0297 a0001c0001t0002g0297	1	378	0.0027	23	c.60 others(34): Show c.6075_*6076insACAACGGAGGAGGAGGAAAAGAG	KCNN1	ENSG00000105642.16	transcript	ENST00000684775.1	protein_coding		4397		chr19	TogoVar
KCNN3_chr1_154692455_154875281	154766416	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0074 a0001c0001t0066g0074	1	238	0.0042	23	c.144 others(42): Show c.1448+5558_1448+5559insTATATATATATATATATATATAT	KCNN3	ENSG00000143603.19	transcript	ENST00000271915.9	protein_coding	3/7			chr1	TogoVar
KCNQ2_chr20_63395208_63477655	63471366	C C	CCCAGGAG others(16): Show CCCAGGAGGCAGCCGTTCCCTGAG	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0018 a0002c0001t0001g0018	1	330	0.0030	23	c.296 others(38): Show c.296+779_296+801dupCTCAGGGAACGGCTGCCTCCTGG	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	1/16			chr20	TogoVar
KCNQ3_chr8_132115861_132486095	132154193	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp2 HG02738.hp1 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0086 a0001c0001t0106 a0001c0001t0086 a0001c0001t0106	a0001c0001t0086g0129 a0001c0001t0106g0169 a0001c0001t0086g0129 a0001c0001t0106g0169	2	176	0.0114	23	c.126 others(42): Show c.1262+9252_1262+9274dupAAAAAAAAAAAAAAAAAAAAAAA	KCNQ3	ENSG00000184156.18	transcript	ENST00000388996.10	protein_coding	9/14			chr8	TogoVar
KCNQ3_chr8_132115861_132486095	132283102	T T	TGTGTGTG others(16): Show TGTGTGTGTGTGTGTGTATGTGTG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp2 HG02818.hp1 HG01884.hp2 HG02055.hp2 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0056 a0001c0001t0058 a0001c0001t0018 a0001c0001t0056 a0001c0001t0058	a0001c0001t0018g0035 a0001c0001t0056g0087 a0001c0001t0058g0065 a0001c0001t0018g0035 a0001c0001t0056g0087 a0001c0001t0058g0065	3	176	0.0171	23	c.387 others(42): Show c.387-96922_387-96921insCACACATACACACACACACACAC	KCNQ3	ENSG00000184156.18	transcript	ENST00000388996.10	protein_coding	1/14			chr8	TogoVar
KCNQ3_chr8_132115861_132486095	132448502	G G	GAAAAAAA others(16): Show GAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03225.hp2 HG02970.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0024 a0001c0001t0004 a0001c0001t0024	a0001c0001t0004g0075 a0001c0001t0024g0077 a0001c0001t0004g0075 a0001c0001t0024g0077	2	176	0.0114	23	c.386 others(42): Show c.386+31644_386+31645insTTTTTTTTTTTTTTTTTTTTTTT	KCNQ3	ENSG00000184156.18	transcript	ENST00000388996.10	protein_coding	1/14			chr8	TogoVar
KCNT1_chr9_135697185_135800502	135715550	A A	AGGGCTCC others(16): Show AGGGCTCCGTCACCACCCAGCCCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(184): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp1 HG02647.hp1 HG02698.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18943.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18966.hp1 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18983.hp2 NA18990.hp1 NA18990.hp2 NA19000.hp1 NA19000.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19074.hp1 NA19074.hp2 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19088.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0006 a0008	a0001c0001 a0001c0002 a0001c0003 others(18): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0009 a0001c0010 a0001c0013 a0001c0014 a0001c0015 a0001c0019 a0001c0020 a0001c0022 a0001c0024 a0001c0027 a0002c0008 a0004c0017 a0005c0021 a0006c0018 a0008c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(55): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0013 a0001c0001t0016 a0001c0001t0022 a0001c0001t0027 a0001c0001t0028 a0001c0001t0038 a0001c0001t0039 a0001c0001t0042 a0001c0001t0043 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0009 a0001c0002t0011 a0001c0002t0029 a0001c0002t0032 a0001c0002t0034 a0001c0002t0040 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0008 a0001c0003t0009 a0001c0003t0013 a0001c0003t0041 a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 a0001c0004t0008 a0001c0004t0012 a0001c0004t0014 a0001c0005t0001 a0001c0007t0001 a0001c0009t0006 a0001c0009t0018 a0001c0010t0001 a0001c0010t0014 a0001c0013t0024 a0001c0014t0017 a0001c0015t0001 a0001c0019t0003 a0001c0020t0017 a0001c0022t0001 a0001c0024t0023 a0001c0027t0009 a0002c0008t0001 a0004c0017t0004 a0005c0021t0001 a0006c0018t0001 a0008c0012t0003	a0001c0001t0001g0031 a0001c0001t0001g0038 a0001c0001t0001g0042 others(184): Show a0001c0001t0001g0031 a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0216 a0001c0001t0001g0221 a0001c0001t0001g0230 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0238 a0001c0001t0001g0242 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0002g0039 a0001c0001t0002g0049 a0001c0001t0002g0073 a0001c0001t0002g0075 a0001c0001t0002g0078 a0001c0001t0002g0098 a0001c0001t0002g0188 a0001c0001t0002g0196 a0001c0001t0002g0198 a0001c0001t0002g0237 a0001c0001t0002g0239 a0001c0001t0002g0251 a0001c0001t0002g0266 a0001c0001t0003g0168 a0001c0001t0003g0181 a0001c0001t0003g0218 a0001c0001t0003g0222 a0001c0001t0003g0243 a0001c0001t0003g0245 a0001c0001t0005g0173 a0001c0001t0005g0174 a0001c0001t0005g0175 a0001c0001t0007g0028 a0001c0001t0007g0029 a0001c0001t0007g0030 a0001c0001t0007g0071 a0001c0001t0011g0032 a0001c0001t0013g0176 a0001c0001t0016g0102 a0001c0001t0016g0254 a0001c0001t0022g0193 a0001c0001t0027g0157 a0001c0001t0028g0077 a0001c0001t0038g0100 a0001c0001t0039g0156 a0001c0001t0042g0265 a0001c0001t0043g0197 a0001c0002t0001g0033 a0001c0002t0001g0041 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0090 a0001c0002t0001g0094 a0001c0002t0001g0096 a0001c0002t0001g0172 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0189 a0001c0002t0001g0201 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0211 a0001c0002t0001g0213 a0001c0002t0001g0229 a0001c0002t0001g0231 a0001c0002t0001g0235 a0001c0002t0001g0244 a0001c0002t0001g0262 a0001c0002t0001g0264 a0001c0002t0002g0219 a0001c0002t0002g0228 a0001c0002t0004g0257 a0001c0002t0005g0079 a0001c0002t0005g0081 a0001c0002t0005g0220 a0001c0002t0005g0270 a0001c0002t0006g0054 a0001c0002t0009g0047 a0001c0002t0011g0083 a0001c0002t0029g0182 a0001c0002t0032g0200 a0001c0002t0034g0179 a0001c0002t0040g0160 a0001c0003t0001g0035 a0001c0003t0001g0036 a0001c0003t0001g0037 a0001c0003t0001g0040 a0001c0003t0001g0064 a0001c0003t0001g0066 a0001c0003t0001g0069 a0001c0003t0001g0080 a0001c0003t0001g0082 a0001c0003t0001g0084 a0001c0003t0001g0091 a0001c0003t0001g0144 a0001c0003t0001g0163 a0001c0003t0001g0164 a0001c0003t0001g0178 a0001c0003t0001g0180 a0001c0003t0001g0210 a0001c0003t0001g0227 a0001c0003t0001g0252 a0001c0003t0001g0253 a0001c0003t0001g0260 a0001c0003t0001g0267 a0001c0003t0001g0272 a0001c0003t0002g0027 a0001c0003t0002g0101 a0001c0003t0002g0192 a0001c0003t0002g0199 a0001c0003t0002g0236 a0001c0003t0003g0058 a0001c0003t0003g0059 a0001c0003t0008g0043 a0001c0003t0009g0177 a0001c0003t0013g0068 a0001c0003t0041g0093 a0001c0004t0001g0092 a0001c0004t0001g0187 a0001c0004t0001g0195 a0001c0004t0001g0209 a0001c0004t0001g0263 a0001c0004t0002g0045 a0001c0004t0004g0003 a0001c0004t0004g0224 a0001c0004t0004g0255 a0001c0004t0004g0256 a0001c0004t0004g0258 a0001c0004t0008g0203 a0001c0004t0012g0225 a0001c0004t0012g0226 a0001c0004t0014g0002 a0001c0005t0001g0207 a0001c0005t0001g0208 a0001c0005t0001g0217 a0001c0005t0001g0240 a0001c0007t0001g0155 a0001c0007t0001g0232 a0001c0009t0006g0159 a0001c0009t0018g0162 a0001c0010t0001g0158 a0001c0010t0014g0161 a0001c0013t0024g0046 a0001c0014t0017g0212 a0001c0015t0001g0271 a0001c0019t0003g0089 a0001c0020t0017g0001 a0001c0022t0001g0070 a0001c0024t0023g0048 a0001c0027t0009g0268 a0002c0008t0001g0170 a0002c0008t0001g0171 a0004c0017t0004g0223 a0005c0021t0001g0246 a0006c0018t0001g0061 a0008c0012t0003g0241	187	272	0.6875	23	c.254 others(38): Show c.254+837_254+859dupCGTCACCACCCAGCCCTGGGCTC	KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNT1_chr9_135697185_135800502	135715578	T T	TCCGTCAC others(16): Show TCCGTCACCACCCAGCCCTGGGCG	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA19005.hp2 HG03516.hp2 NA19005.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0011 a0001c0002 a0003c0011	a0001c0002t0008 a0003c0011t0001 a0001c0002t0008 a0003c0011t0001	a0001c0002t0008g0026 a0003c0011t0001g0044 a0001c0002t0008g0026 a0003c0011t0001g0044	2	272	0.0074	23	c.254 others(38): Show c.254+859_254+860insCGTCACCACCCAGCCCTGGGCGC	KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNT2_chr1_196220779_196613440	196284248	A A	AAAAAAAA others(16): Show AAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	136	0.0074	23	c.269 others(42): Show c.2697+1408_2697+1409insATATATATATATATATTTTTTTT	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	23/27			chr1	TogoVar
KCNT2_chr1_196220779_196613440	196334487	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02572.hp2 HG02886.hp2 others(1): Show HG00673.hp1 HG02572.hp2 HG02886.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 a0001c0001t0001 a0001c0001t0002 a0001c0006t0001	a0001c0001t0001g0040 a0001c0001t0001g0072 a0001c0001t0002g0048 others(1): Show a0001c0001t0001g0040 a0001c0001t0001g0072 a0001c0001t0002g0048 a0001c0006t0001g0067	4	136	0.0294	23	c.178 others(40): Show c.1784-428_1784-427insAAAAAAAAAAAAAAAAAAAAAAA	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	16/27			chr1	TogoVar
KCNT2_chr1_196220779_196613440	196437011	C C	CATAAATA others(16): Show CATAAATATATATCATATATAAAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01081.hp2 HG02165.hp2 HG00323.hp1 HG01081.hp2 HG02165.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0002 a0001c0004t0004g0132 a0001c0004t0004g0133 a0001c0004t0004g0002 a0001c0004t0004g0132 a0001c0004t0004g0133	3	136	0.0221	23	c.639 others(40): Show c.639-7255_639-7254insATTTATATATGATATATATTTAT	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	8/27			chr1	TogoVar
KCP_chr7_128871865_128915709	128908251	G G	GAGAAAGA others(16): Show GAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02647.hp1 HG02895.hp1 others(2): Show HG02258.hp2 HG02647.hp1 HG02895.hp1 HG03130.hp2 HG03225.hp2	a0006 a0009 a0034 a0006 a0009 a0034	a0006c0006 a0009c0029 a0034c0046 a0006c0006 a0009c0029 a0034c0046	a0006c0006t0002 a0009c0029t0003 a0034c0046t0002 a0006c0006t0002 a0009c0029t0003 a0034c0046t0002	a0006c0006t0002g0048 a0006c0006t0002g0049 a0006c0006t0002g0050 others(2): Show a0006c0006t0002g0048 a0006c0006t0002g0049 a0006c0006t0002g0050 a0009c0029t0003g0334 a0034c0046t0002g0313	5	372	0.0134	23	c.219 others(38): Show c.219+174_219+175insTCTTTCTTTCTTTCTTTCTTTCT	KCP	ENSG00000135253.16	transcript	ENST00000610776.5	protein_coding	2/39			chr7	TogoVar
KCTD15_chr19_33791870_33820761	33815375	C C	CCATAAAC others(16): Show CCATAAACAGTAAGTACATTTTAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0116 a0001c0001t0049g0116	1	370	0.0027	23	c.24 others(34): Show c.2444_*2445insTTTTATCATAAACAGTAAGTACA	KCTD15	ENSG00000153885.15	transcript	ENST00000683859.1	protein_coding	7/7	2445	INFO_REALIGN_3_PRIME	chr19	TogoVar
KCTD1_chr18_26449910_26553553	26532261	C C	CTTTCTTT others(16): Show CTTTCTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	338	0.0030	23	c.180 others(44): Show c.1809+14466_1809+14467insAAAAAAAAAAAAAAAAAAAGAAA	KCTD1	ENSG00000134504.14	transcript	ENST00000580059.7	protein_coding	1/4			chr18	TogoVar
KCTD3_chr1_215562304_215626807	215614018	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	314	0.0032	23	c.156 others(42): Show c.1562+2105_1562+2127dupTTTTTTTTTTTTTTTTTTTTTTT	KCTD3	ENSG00000136636.13	transcript	ENST00000259154.9	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCTD4_chr13_45187853_45206045	45191224	A A	AAAAAAAT others(16): Show AAAAAAATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	352	0.0028	23	c.25 others(34): Show c.2563_*2564insATATATATATATATATATTTTTT	KCTD4	ENSG00000180332.7	transcript	ENST00000379108.2	protein_coding		1628		chr13	TogoVar
KCTD8_chr4_44168903_44453809	44317228	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	294	0.0034	23	c.961 others(44): Show c.961+130334_961+130335insAAAAAAAAAAAAAAAAAAAAAAA	KCTD8	ENSG00000183783.7	transcript	ENST00000360029.4	protein_coding	1/1			chr4	TogoVar
KDM1B_chr6_18150422_18228854	18208628	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01496.hp1 HG01261.hp2 HG01496.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0006 a0001c0002 a0002c0006	a0001c0002t0001 a0002c0006t0004 a0001c0002t0001 a0002c0006t0004	a0001c0002t0001g0328 a0002c0006t0004g0322 a0001c0002t0001g0328 a0002c0006t0004g0322	2	392	0.0051	23	c.186 others(40): Show c.1866+422_1866+423insATATATATATATATATATATATA	KDM1B	ENSG00000165097.16	transcript	ENST00000650836.2	protein_coding	17/21			chr6	TogoVar
KDM2A_chr11_67114263_67263082	67201772	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	220	0.0046	23	c.308 others(40): Show c.308-5727_308-5705dupAAAAAAAAAAAAAAAAAAAAAAA	KDM2A	ENSG00000173120.15	transcript	ENST00000529006.7	protein_coding	5/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
KDM2A_chr11_67114263_67263082	67247072	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0041 a0001c0002t0001g0041	1	220	0.0046	23	c.196 others(40): Show c.1965+956_1965+957insATATATATATATATATATATATA	KDM2A	ENSG00000173120.15	transcript	ENST00000529006.7	protein_coding	15/20			chr11	TogoVar
KDM2B_chr12_121424096_121586023	121478866	T T	TTGTTTGT others(16): Show TTGTTTGTTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	270	0.0037	23	c.173 others(44): Show c.1734+15712_1734+15713insCACACACACACACACAACAAACA	KDM2B	ENSG00000089094.20	transcript	ENST00000377071.9	protein_coding	12/22			chr12	TogoVar
KDM4A_chr1_43645149_43710518	43649226	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG02895.hp2 HG02976.hp2 others(5): Show HG00609.hp1 HG02895.hp2 HG02976.hp2 HG03688.hp2 NA18999.hp2 NA19003.hp2 NA19058.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0127 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0127 a0001c0001t0001g0208 a0001c0001t0001g0221 a0001c0001t0001g0225 a0001c0001t0001g0233 a0001c0001t0001g0307	8	370	0.0216	23	c.-10 others(34): Show c.-1066_-1065insTTTTTTTTTTTTTTTTTTTTTTT	KDM4A	ENSG00000066135.13	transcript	ENST00000372396.4	protein_coding		922		chr1	TogoVar
KDM4C_chr9_6752973_7180648	6919247	T T	TTTCTTTC others(16): Show TTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG04115.hp1 NA18946.hp2 others(3): Show HG03453.hp2 HG04115.hp1 NA18946.hp2 NA18967.hp2 NA19065.hp2 NA19086.hp2	a0002 a0005 a0015 a0002 a0005 a0015	a0002c0003 a0002c0008 a0005c0037 others(1): Show a0002c0003 a0002c0008 a0005c0037 a0015c0068	a0002c0003t0002 a0002c0003t0014 a0002c0008t0001 others(2): Show a0002c0003t0002 a0002c0003t0014 a0002c0008t0001 a0005c0037t0001 a0015c0068t0002	a0002c0003t0002g0136 a0002c0003t0002g0228 a0002c0003t0014g0180 others(3): Show a0002c0003t0002g0136 a0002c0003t0002g0228 a0002c0003t0014g0180 a0002c0008t0001g0090 a0005c0037t0001g0051 a0015c0068t0002g0125	6	266	0.0226	23	c.921 others(42): Show c.921+26017_921+26018insCTTTCTTTCTTTCTTTCTTTCTT	KDM4C	ENSG00000107077.20	transcript	ENST00000381309.8	protein_coding	8/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
KDM4C_chr9_6752973_7180648	6926341	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG00621.hp1 others(5): Show HG00558.hp1 HG00558.hp2 HG00621.hp1 HG02135.hp2 NA18959.hp2 NA18981.hp2 NA19070.hp1 NA19086.hp1	a0002 a0004 a0029 others(1): Show a0002 a0004 a0029 a0030	a0002c0003 a0004c0005 a0004c0006 others(2): Show a0002c0003 a0004c0005 a0004c0006 a0029c0043 a0030c0044	a0002c0003t0001 a0002c0003t0002 a0004c0005t0001 others(4): Show a0002c0003t0001 a0002c0003t0002 a0004c0005t0001 a0004c0005t0002 a0004c0006t0001 a0029c0043t0002 a0030c0044t0001	a0002c0003t0001g0061 a0002c0003t0002g0223 a0002c0003t0002g0241 others(5): Show a0002c0003t0001g0061 a0002c0003t0002g0223 a0002c0003t0002g0241 a0004c0005t0001g0177 a0004c0005t0002g0076 a0004c0006t0001g0102 a0029c0043t0002g0181 a0030c0044t0001g0222	8	266	0.0301	23	c.921 others(42): Show c.921+33123_921+33124insAAAAAAAAAAAAAAAAAAAAAAA	KDM4C	ENSG00000107077.20	transcript	ENST00000381309.8	protein_coding	8/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
KDM4C_chr9_6752973_7180648	7019686	T T	TTATAAAA others(16): Show TTATAAAAATATAATATTTTTATA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00558.hp1 others(39): Show HG00408.hp1 HG00423.hp1 HG00558.hp1 HG01070.hp2 HG01358.hp2 HG01952.hp2 HG02056.hp1 HG02071.hp1 HG02109.hp2 HG02135.hp1 HG02572.hp1 HG02622.hp2 HG02717.hp2 HG02965.hp2 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03669.hp1 NA18947.hp2 NA18950.hp1 NA18957.hp1 NA18959.hp2 NA18962.hp1 NA18964.hp2 NA18971.hp2 NA18973.hp1 NA18975.hp1 NA18981.hp1 NA18981.hp2 NA18986.hp2 NA18989.hp1 NA18991.hp1 NA19010.hp1 NA19011.hp2 NA19065.hp2 NA19066.hp2 NA19070.hp1 NA19086.hp1 NA19087.hp1 NA19088.hp1 NA19091.hp1 NA20300.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0009 a0013 a0020 a0029 a0030	a0001c0001 a0001c0002 a0002c0003 others(12): Show a0001c0001 a0001c0002 a0002c0003 a0002c0008 a0003c0004 a0004c0005 a0004c0006 a0006c0009 a0007c0017 a0008c0042 a0009c0010 a0013c0025 a0020c0066 a0029c0043 a0030c0044	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0002 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0008t0001 a0002c0008t0002 a0003c0004t0001 a0004c0005t0002 a0004c0006t0001 a0004c0006t0002 a0006c0009t0001 a0007c0017t0001 a0008c0042t0001 a0009c0010t0002 a0013c0025t0001 a0020c0066t0001 a0029c0043t0002 a0030c0044t0001	a0001c0001t0001g0066 a0001c0001t0002g0214 a0001c0001t0004g0206 others(39): Show a0001c0001t0001g0066 a0001c0001t0002g0214 a0001c0001t0004g0206 a0001c0001t0004g0265 a0001c0002t0002g0012 a0001c0002t0002g0217 a0002c0003t0001g0057 a0002c0003t0001g0061 a0002c0003t0001g0072 a0002c0003t0001g0095 a0002c0003t0001g0101 a0002c0003t0001g0221 a0002c0003t0001g0234 a0002c0003t0002g0035 a0002c0003t0002g0049 a0002c0003t0002g0068 a0002c0003t0002g0079 a0002c0003t0002g0167 a0002c0003t0002g0212 a0002c0003t0002g0223 a0002c0003t0002g0228 a0002c0003t0002g0241 a0002c0003t0003g0251 a0002c0008t0001g0186 a0002c0008t0001g0198 a0002c0008t0002g0069 a0003c0004t0001g0120 a0003c0004t0001g0200 a0003c0004t0001g0247 a0004c0005t0002g0067 a0004c0006t0001g0059 a0004c0006t0002g0004 a0004c0006t0002g0043 a0006c0009t0001g0077 a0006c0009t0001g0219 a0007c0017t0001g0029 a0008c0042t0001g0115 a0009c0010t0002g0216 a0013c0025t0001g0239 a0020c0066t0001g0169 a0029c0043t0002g0181 a0030c0044t0001g0222	42	266	0.1579	23	c.225 others(42): Show c.2259+3838_2259+3860dupAATATTTTTATATATAAAAATAT	KDM4C	ENSG00000107077.20	transcript	ENST00000381309.8	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
KDM4C_chr9_6752973_7180648	7019686	T T	TTATAAAA others(16): Show TTATAAAAATATTATATTTTTATA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02080.hp2 HG02735.hp1 others(1): Show HG02071.hp2 HG02080.hp2 HG02735.hp1 NA18943.hp1	a0002 a0023 a0024 others(1): Show a0002 a0023 a0024 a0035	a0002c0003 a0023c0041 a0024c0039 others(1): Show a0002c0003 a0023c0041 a0024c0039 a0035c0052	a0002c0003t0002 a0023c0041t0002 a0024c0039t0001 others(1): Show a0002c0003t0002 a0023c0041t0002 a0024c0039t0001 a0035c0052t0002	a0002c0003t0002g0060 a0023c0041t0002g0108 a0024c0039t0001g0040 others(1): Show a0002c0003t0002g0060 a0023c0041t0002g0108 a0024c0039t0001g0040 a0035c0052t0002g0244	4	266	0.0150	23	c.225 others(42): Show c.2259+3768_2259+3769insTATATTTTTATATATAAAAATAT	KDM4C	ENSG00000107077.20	transcript	ENST00000381309.8	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
KDM4C_chr9_6752973_7180648	7019721	A A	AATATTTT others(16): Show AATATTTTTATATATAAAAATATT	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0266	1	266	0.0038	23	c.225 others(42): Show c.2259+3814_2259+3815insTATATTTTTATATATAAAAATAT	KDM4C	ENSG00000107077.20	transcript	ENST00000381309.8	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
KDM4C_chr9_6752973_7180648	7019744	A A	AATATTTT others(16): Show AATATTTTTATATATAAAAATATT	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA18946.hp1 NA18968.hp2 others(2): Show HG02809.hp2 NA18946.hp1 NA18968.hp2 NA19010.hp2 NA19054.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0004 a0001c0001 a0002c0003 a0003c0004	a0001c0001t0001 a0002c0003t0001 a0002c0003t0002 others(1): Show a0001c0001t0001 a0002c0003t0001 a0002c0003t0002 a0003c0004t0001	a0001c0001t0001g0249 a0002c0003t0001g0242 a0002c0003t0002g0092 others(2): Show a0001c0001t0001g0249 a0002c0003t0001g0242 a0002c0003t0002g0092 a0003c0004t0001g0056 a0003c0004t0001g0105	5	266	0.0188	23	c.225 others(42): Show c.2259+3837_2259+3838insTATATTTTTATATATAAAAATAT	KDM4C	ENSG00000107077.20	transcript	ENST00000381309.8	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
KDM4C_chr9_6752973_7180648	7019767	A A	AATATTTT others(16): Show AATATTTTTATATATAAAAATATT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp2 others(14): Show HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00735.hp1 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01175.hp2 HG01361.hp2 HG02056.hp2 HG02523.hp1 HG02602.hp2 HG02615.hp1 HG02895.hp1 HG02922.hp2 HG03540.hp1 NA18975.hp2	a0001 a0002 a0012 others(2): Show a0001 a0002 a0012 a0017 a0018	a0001c0001 a0001c0002 a0001c0060 others(4): Show a0001c0001 a0001c0002 a0001c0060 a0002c0003 a0012c0013 a0017c0026 a0018c0030	a0001c0001t0002 a0001c0001t0006 a0001c0002t0001 others(10): Show a0001c0001t0002 a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0018 a0001c0060t0002 a0002c0003t0002 a0012c0013t0003 a0012c0013t0007 a0012c0013t0009 a0017c0026t0002 a0018c0030t0001	a0001c0001t0002g0117 a0001c0001t0002g0143 a0001c0001t0002g0263 others(14): Show a0001c0001t0002g0117 a0001c0001t0002g0143 a0001c0001t0002g0263 a0001c0001t0006g0256 a0001c0002t0001g0048 a0001c0002t0001g0055 a0001c0002t0002g0038 a0001c0002t0003g0258 a0001c0002t0018g0110 a0001c0060t0002g0210 a0002c0003t0002g0098 a0012c0013t0003g0255 a0012c0013t0007g0088 a0012c0013t0009g0189 a0017c0026t0002g0099 a0018c0030t0001g0153 a0018c0030t0001g0154	17	266	0.0639	23	c.225 others(42): Show c.2259+3839_2259+3861dupATATTTTTATATATAAAAATATT	KDM4C	ENSG00000107077.20	transcript	ENST00000381309.8	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
KDM5A_chr12_275057_394320	289907	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 NA19087.hp1 HG00738.hp2 NA19087.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0006 a0002c0002t0003 a0002c0002t0006	a0002c0002t0003g0191 a0002c0002t0006g0081 a0002c0002t0003g0191 a0002c0002t0006g0081	2	350	0.0057	23	c.486 others(42): Show c.4866+2829_4866+2851dupAAAAAAAAAAAAAAAAAAAAAAA	KDM5A	ENSG00000073614.13	transcript	ENST00000399788.7	protein_coding	27/27			chr12	TogoVar
KDM5A_chr12_275057_394320	357827	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0307 a0001c0001t0014g0307	1	350	0.0029	23	c.673 others(40): Show c.673-1313_673-1291dupTTTTTTTTTTTTTTTTTTTTTTT	KDM5A	ENSG00000073614.13	transcript	ENST00000399788.7	protein_coding	5/27			chr12	TogoVar
KHDC4_chr1_155908045_155939413	155911166	G G	GCCCCCTC others(16): Show GCCCCCTCCCCATTCTCCTCCGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp2 HG03516.hp1 HG01884.hp1 HG01884.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0229 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0229	3	326	0.0092	23	c.29 others(34): Show c.2932_*2954dupTTCGGAGGAGAATGGGGAGGGGG	KHDC4	ENSG00000132680.11	transcript	ENST00000368321.8	protein_coding		1878		chr1	TogoVar
KHDRBS2_chr6_61674961_62291225	61983237	T T	TTTCTTTC others(16): Show TTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02258.hp1 HG02257.hp2 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0004 a0001c0001t0006 a0001c0002t0004	a0001c0001t0006g0217 a0001c0002t0004g0210 a0001c0001t0006g0217 a0001c0002t0004g0210	2	244	0.0082	23	c.337 others(40): Show c.337-5026_337-5025insGAAAGAAAGAAAGAAAGAAAGAA	KHDRBS2	ENSG00000112232.10	transcript	ENST00000281156.5	protein_coding	3/8			chr6	TogoVar
KHDRBS2_chr6_61674961_62291225	61993674	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp2 NA19086.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0088 a0001c0001t0006g0226 a0001c0001t0002g0088 a0001c0001t0006g0226	2	244	0.0082	23	c.337 others(42): Show c.337-15463_337-15462insTATATATATATATATATATATAT	KHDRBS2	ENSG00000112232.10	transcript	ENST00000281156.5	protein_coding	3/8			chr6	TogoVar
KHSRP_chr19_6408102_6429811	6426510	A A	AGGATCCG others(16): Show AGGATCCGCTGGAGGACTCCGCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	386	0.0026	23	c.-18 others(34): Show c.-1832_-1810dupGCGCGGAGTCCTCCAGCGGATCC	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		1700		chr19	TogoVar
KIAA0319_chr6_24539107_24651191	24648673	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG01169.hp2 NA20905.hp1 HG00323.hp2 HG01169.hp2 NA20905.hp1	a0001 a0015 a0001 a0015	a0001c0001 a0001c0004 a0015c0027 a0001c0001 a0001c0004 a0015c0027	a0001c0001t0022 a0001c0004t0030 a0015c0027t0022 a0001c0001t0022 a0001c0004t0030 a0015c0027t0022	a0001c0001t0022g0004 a0001c0004t0030g0008 a0015c0027t0022g0005 a0001c0001t0022g0004 a0001c0004t0030g0008 a0015c0027t0022g0005	3	300	0.0100	23	c.-30 others(34): Show c.-3044_-3043insGTTTTTTTTTTTTTTTTTTTTTT	KIAA0319	ENSG00000137261.15	transcript	ENST00000378214.8	protein_coding		2483		chr6	TogoVar
KIAA0825_chr5_94145851_94623604	94182250	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0020 a0002c0003t0020	a0002c0003t0020g0012 a0002c0003t0020g0012	1	54	0.0185	23	c.371 others(44): Show c.3711-28149_3711-28127dupAAAAAAAAAAAAAAAAAAAAAAA	KIAA0825	ENSG00000185261.16	transcript	ENST00000682413.1	protein_coding	20/20			chr5	TogoVar
KIAA0825_chr5_94145851_94623604	94205300	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0039 a0001c0001t0040g0039	1	54	0.0185	23	c.371 others(44): Show c.3711-51177_3711-51176insTATATATATATATATATATATAT	KIAA0825	ENSG00000185261.16	transcript	ENST00000682413.1	protein_coding	20/20			chr5	TogoVar
KIAA0825_chr5_94145851_94623604	94610789	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0028 a0002c0003t0003g0028	1	54	0.0185	23	c.-15 others(42): Show c.-153+7710_-153+7711insCTTTTTTTTTTTTTTTTTTTTTT	KIAA0825	ENSG00000185261.16	transcript	ENST00000682413.1	protein_coding	1/20			chr5	TogoVar
KIAA1210_chrX_119073635_119132812	119125735	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02698.hp1 HG02080.hp2 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0068 a0001c0001t0003g0067 a0001c0001t0001g0068 a0001c0001t0003g0067	2	261	0.0077	23	c.-11 others(40): Show c.-11+1991_-11+1992insATATATATATATATATATATATA	KIAA1210	ENSG00000250423.3	transcript	ENST00000691062.1	protein_coding	1/11			chrX	TogoVar
KIAA1210_chrX_119073635_119132812	119125736	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01258.hp1 HG02056.hp1 others(6): Show HG00621.hp1 HG01258.hp1 HG02056.hp1 HG02280.hp1 HG03486.hp1 NA18978.hp2 NA19055.hp1 NA19068.hp1 NA20805.hp1	a0001 a0002 a0023 a0001 a0002 a0023	a0001c0001 a0002c0002 a0023c0019 a0001c0001 a0002c0002 a0023c0019	a0001c0001t0001 a0002c0002t0002 a0002c0002t0004 others(1): Show a0001c0001t0001 a0002c0002t0002 a0002c0002t0004 a0023c0019t0025	a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0227 others(6): Show a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0227 a0002c0002t0002g0111 a0002c0002t0002g0112 a0002c0002t0002g0174 a0002c0002t0002g0241 a0002c0002t0004g0226 a0023c0019t0025g0029	9	261	0.0345	23	c.-11 others(40): Show c.-11+1990_-11+1991insTATATATATATATATATATATAT	KIAA1210	ENSG00000250423.3	transcript	ENST00000691062.1	protein_coding	1/11			chrX	TogoVar
KIAA1217_chr10_24204138_24552843	24484241	A A	ATATATAT others(16): Show ATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02257.hp2 HG03471.hp1 others(1): Show HG00408.hp1 HG02257.hp2 HG03471.hp1 NA18963.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0001c0013 a0001c0081 others(1): Show a0001c0004 a0001c0013 a0001c0081 a0002c0007	a0001c0004t0002 a0001c0013t0005 a0001c0081t0002 others(1): Show a0001c0004t0002 a0001c0013t0005 a0001c0081t0002 a0002c0007t0002	a0001c0004t0002g0078 a0001c0013t0005g0008 a0001c0081t0002g0044 others(1): Show a0001c0004t0002g0078 a0001c0013t0005g0008 a0001c0081t0002g0044 a0002c0007t0002g0124	4	240	0.0167	23	c.167 others(44): Show c.1679+10182_1679+10183insATATATATATATATTTTTTTTTT	KIAA1217	ENSG00000120549.19	transcript	ENST00000376454.8	protein_coding	6/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
KIAA1217_chr10_24204138_24552843	24484241	A A	ATATATAT others(16): Show ATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG02080.hp1 HG02622.hp1 others(4): Show HG01258.hp2 HG02080.hp1 HG02622.hp1 HG03239.hp1 HG04115.hp1 NA18957.hp2 NA18977.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0005 others(3): Show a0001c0001 a0001c0004 a0001c0005 a0001c0011 a0002c0007 a0002c0043	a0001c0001t0001 a0001c0001t0002 a0001c0004t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0003 a0001c0005t0001 a0001c0011t0003 a0002c0007t0002 a0002c0043t0003	a0001c0001t0001g0206 a0001c0001t0002g0007 a0001c0004t0003g0192 others(4): Show a0001c0001t0001g0206 a0001c0001t0002g0007 a0001c0004t0003g0192 a0001c0005t0001g0177 a0001c0011t0003g0165 a0002c0007t0002g0131 a0002c0043t0003g0081	7	240	0.0292	23	c.167 others(44): Show c.1679+10182_1679+10183insATATATATATATTTTTTTTTTTT	KIAA1217	ENSG00000120549.19	transcript	ENST00000376454.8	protein_coding	6/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
KIAA1217_chr10_24204138_24552843	24484241	A A	ATATATAT others(16): Show ATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02523.hp2 NA19088.hp2 HG02083.hp2 HG02523.hp2 NA19088.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0001 a0001c0003t0002 a0001c0005t0001 a0001c0003t0001 a0001c0003t0002 a0001c0005t0001	a0001c0003t0001g0166 a0001c0003t0002g0074 a0001c0005t0001g0072 a0001c0003t0001g0166 a0001c0003t0002g0074 a0001c0005t0001g0072	3	240	0.0125	23	c.167 others(44): Show c.1679+10182_1679+10183insATATATATATTTTTTTTTTTTTT	KIAA1217	ENSG00000120549.19	transcript	ENST00000376454.8	protein_coding	6/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
KIAA1217_chr10_24204138_24552843	24484241	A A	ATATATAT others(16): Show ATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0002 a0003c0012t0002	a0003c0012t0002g0213 a0003c0012t0002g0213	1	240	0.0042	23	c.167 others(44): Show c.1679+10182_1679+10183insATATATATTTTTTTTTTTTTTTT	KIAA1217	ENSG00000120549.19	transcript	ENST00000376454.8	protein_coding	6/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
KIAA1217_chr10_24204138_24552843	24484241	A A	ATATATAT others(16): Show ATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA19070.hp1 HG00609.hp1 NA19070.hp1	a0001 a0001	a0001c0008 a0001c0026 a0001c0008 a0001c0026	a0001c0008t0002 a0001c0026t0002 a0001c0008t0002 a0001c0026t0002	a0001c0008t0002g0195 a0001c0026t0002g0215 a0001c0008t0002g0195 a0001c0026t0002g0215	2	240	0.0083	23	c.167 others(44): Show c.1679+10182_1679+10183insATATATTTTTTTTTTTTTTTTTT	KIAA1217	ENSG00000120549.19	transcript	ENST00000376454.8	protein_coding	6/20		INFO_REALIGN_3_PRIME	chr10	TogoVar

Search by Variant

Search

Search Results (Total: 8696 hits)