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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⚠️ 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
BAD_chr11_64264830_64289665	64271136	TCACACAC others(78): Show TCACACACACACACACACACACACACACCTGGAGTGGGATCTAGACTACA GATCCCAGCATGCCCTGTGACTCACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG03139.hp2 NA19043.hp1 HG01934.hp1 HG03139.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074	3	388	0.0077	-85	c.378 others(100): Show c.378+392_378+476delTGTGTGTGTGTGTGAGTCACAGGGCATGCT GGGATCTGTAGTCTAGATCCCACTCCAGGTGTGTGTGTGTGTGTGTGTGT GTGTG	BAD	ENSG00000002330.14	transcript	ENST00000309032.8	protein_coding	3/3			chr11	TogoVar
BEGAIN_chr14_100532147_100592417	100546339	ACCCCGGC others(78): Show ACCCCGGCCCTCGCCCCGCCCCGGCCCTCGCCCCGCCCCGGCCCTCGCCC CGCCCCGGCCCTCGCCCCGCCCCGGCCCTCGCCCCG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01884.hp1 HG02109.hp2 others(4): Show HG00544.hp1 HG01884.hp1 HG02109.hp2 HG02135.hp1 HG02723.hp1 HG02723.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0016 a0001c0001 a0001c0005 a0001c0016	a0001c0001t0001 a0001c0005t0001 a0001c0005t0002 others(1): Show a0001c0001t0001 a0001c0005t0001 a0001c0005t0002 a0001c0016t0001	a0001c0001t0001g0009 a0001c0001t0001g0126 a0001c0005t0001g0069 others(3): Show a0001c0001t0001g0009 a0001c0001t0001g0126 a0001c0005t0001g0069 a0001c0005t0002g0076 a0001c0005t0002g0077 a0001c0016t0001g0257	7	326	0.0215	-85	c.233 others(99): Show c.233+77_233+161delCGGGGCGAGGGCCGGGGCGGGGCGAGGGCCG GGGCGGGGCGAGGGCCGGGGCGGGGCGAGGGCCGGGGCGGGGCGAGGGCC GGGG	BEGAIN	ENSG00000183092.18	transcript	ENST00000554140.3	protein_coding	3/6			chr14	TogoVar
C20orf204_chr20_64031182_64044001	64042832	CGGGGGTC others(78): Show CGGGGGTCGTGGGGGACGGGACGGGGGTCGTGGGGGACGGGGCGGGGGTC GTGGGGGACGGGGCGGGGGTCGTGGGGGACGGGACG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	392	0.0026	-85	c.40 others(96): Show c.4074_*4158delGGGGGTCGTGGGGGACGGGACGGGGGTCGTGGGG GACGGGGCGGGGGTCGTGGGGGACGGGGCGGGGGTCGTGGGGGACGGGAC G	C20orf204	ENSG00000196421.9	transcript	ENST00000636176.2	protein_coding		3832		chr20	TogoVar
CACNA1H_chr16_1148106_1226768	1204956	GCCCCGAT others(78): Show GCCCCGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGAT CAGTGCCGGGGAGGGGTGGGAGCCACGGGTGGGGGC	G G	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0008 a0008	a0008c0023 a0008c0023	a0008c0023t0003 a0008c0023t0003	a0008c0023t0003g0129 a0008c0023t0003g0129	1	338	0.0030	-85	c.245 others(101): Show c.2452-154_2452-70delCGATCAGTGCCGGGGAGGGGTGGGAGCCG CGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCACGGGTGGG GGCCCC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	10/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CALM2_chr2_47155084_47181511	47164321	TGCCTGTA others(78): Show TGCCTGTAGTCCCCCGTCTCTACTAAAACACACACACACACACACACACA CACACACACACACACACGCTGGGTGTGGCAGCGTGG	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02622.hp1 HG01891.hp2 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0384 a0001c0001t0001g0385 a0001c0001t0001g0384 a0001c0001t0001g0385	2	432	0.0046	-85	c.35- others(100): Show c.35-1744_35-1660delCCACGCTGCCACACCCAGCGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTAGTAGAGACGGGGGACTA CAGGC	CALM2	ENSG00000143933.20	transcript	ENST00000272298.12	protein_coding	2/5			chr2	TogoVar
CAPN12_chr19_38725192_38749474	38735732	CGGGGCGG others(78): Show CGGGGCGGGGGTTCTGGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGG CGGGGGTTCTGGGGGCGGGGCGGGGCGGGGGTTCTG	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0172 a0001c0002t0002g0172	1	342	0.0029	-85	c.158 others(102): Show c.1584-273_1584-189delCAGAACCCCCGCCCCGCCCCGCCCCCAG AACCCCCGCCCCGCCCCGCCCCCAGAACCCCCGCCCCGCCCCCAGAACCC CCGCCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5764101	GGCCTCCC others(78): Show GGCCTCCCAAAGTGCTGGGATCACAGGCATGAGCCACTGCGCCCAACCTG GTCTTGAACTCCTGGTCTTGTGATCCTCCTGCCTCA	G G	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA19089.hp2 NA18942.hp1 NA19089.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0003 a0002c0002 a0004c0003	a0002c0002t0001 a0004c0003t0001 a0002c0002t0001 a0004c0003t0001	a0002c0002t0001g0180 a0004c0003t0001g0240 a0002c0002t0001g0180 a0004c0003t0001g0240	2	336	0.0060	-85	c.150 others(102): Show c.1506+829_1506+913delCACAGGCATGAGCCACTGCGCCCAACCT GGTCTTGAACTCCTGGTCTTGTGATCCTCCTGCCTCAGCCTCCCAAAGTG CTGGGAT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CCDC127_chr5_191868_223153	196550	CGAGTGTG others(78): Show CGAGTGTGTCCCCACCCCAGGGGGCCCCGTGTCACCCCCTCCCCAGGTGT GCCCCCACCCCTGCTGCCCTGTGTCACCCCCTCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0040 a0001c0003t0040	a0001c0003t0040g0038 a0001c0003t0040g0038	1	406	0.0025	-85	c.86 others(96): Show c.8662_*8746delCGGGAGGGGGTGACACAGGGCAGCAGGGGTGGGG GCACACCTGGGGAGGGGGTGACACGGGGCCCCCTGGGGTGGGGACACACT C	CCDC127	ENSG00000164366.4	transcript	ENST00000296824.4	protein_coding		317		chr5	TogoVar
CCDC187_chr9_136244973_136309094	136251862	GGTCCACC others(78): Show GGTCCACCCCGGGAAGGTCCAGGCGACCGTCCCGCGGAGCCGGCCGCCCA CCTGGTCCACCCTGGGAAGAGCCGGCCGCCCACCCA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(145): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01123.hp2 HG01168.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01517.hp2 HG01928.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01993.hp1 HG02015.hp2 HG02055.hp2 HG02071.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp2 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02293.hp1 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02615.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp2 HG02735.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03490.hp1 HG03579.hp2 HG03688.hp1 HG03710.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18939.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18950.hp1 NA18952.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp2 NA18964.hp1 NA18966.hp2 NA18969.hp1 NA18970.hp1 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp2 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18993.hp1 NA18995.hp1 NA19002.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19043.hp1 NA19056.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19070.hp2 NA19074.hp1 NA19077.hp2 NA19081.hp1 NA19081.hp2 NA19090.hp2 NA19091.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(64): Show a0001 a0002 a0003 a0005 a0010 a0011 a0019 a0020 a0021 a0026 a0028 a0029 a0033 a0040 a0043 a0044 a0048 a0049 a0050 a0051 a0053 a0058 a0061 a0063 a0071 a0073 a0074 a0079 a0080 a0084 a0086 a0090 a0092 a0094 a0098 a0100 a0104 a0110 a0112 a0114 a0115 a0116 a0122 a0123 a0124 a0126 a0129 a0130 a0133 a0136 a0139 a0142 a0145 a0147 a0149 a0150 a0151 a0155 a0160 a0162 a0165 a0167 a0168 a0182 a0185 a0188 a0190	a0001c0002 a0001c0012 a0001c0112 others(72): Show a0001c0002 a0001c0012 a0001c0112 a0001c0113 a0002c0001 a0002c0173 a0003c0004 a0003c0024 a0005c0005 a0010c0010 a0011c0017 a0019c0040 a0020c0015 a0021c0049 a0021c0203 a0026c0057 a0026c0210 a0028c0025 a0028c0084 a0029c0029 a0033c0021 a0040c0052 a0043c0032 a0044c0031 a0048c0027 a0049c0026 a0050c0048 a0051c0044 a0053c0045 a0058c0038 a0061c0036 a0063c0041 a0071c0065 a0073c0086 a0074c0224 a0079c0186 a0080c0222 a0084c0200 a0086c0198 a0090c0216 a0092c0195 a0094c0193 a0098c0205 a0100c0204 a0104c0069 a0110c0079 a0112c0072 a0114c0076 a0115c0073 a0116c0185 a0122c0158 a0123c0157 a0124c0161 a0126c0160 a0129c0088 a0130c0089 a0133c0093 a0136c0096 a0139c0137 a0142c0117 a0145c0131 a0147c0124 a0149c0174 a0150c0128 a0151c0127 a0155c0122 a0160c0100 a0162c0102 a0165c0170 a0167c0109 a0168c0110 a0182c0139 a0185c0153 a0188c0154 a0190c0227	a0001c0002t0001 a0001c0002t0002 a0001c0002t0028 others(94): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0028 a0001c0002t0152 a0001c0012t0001 a0001c0012t0002 a0001c0012t0099 a0001c0112t0001 a0001c0113t0002 a0002c0001t0001 a0002c0001t0002 a0002c0001t0041 a0002c0001t0093 a0002c0001t0094 a0002c0001t0116 a0002c0173t0002 a0003c0004t0001 a0003c0004t0002 a0003c0004t0043 a0003c0004t0100 a0003c0004t0104 a0003c0024t0001 a0003c0024t0111 a0005c0005t0001 a0005c0005t0002 a0005c0005t0115 a0010c0010t0041 a0011c0017t0001 a0011c0017t0002 a0019c0040t0092 a0020c0015t0002 a0020c0015t0114 a0021c0049t0001 a0021c0049t0002 a0021c0203t0002 a0026c0057t0007 a0026c0210t0055 a0028c0025t0001 a0028c0084t0001 a0029c0029t0101 a0033c0021t0018 a0040c0052t0001 a0043c0032t0053 a0043c0032t0121 a0044c0031t0002 a0048c0027t0002 a0049c0026t0001 a0050c0048t0007 a0051c0044t0001 a0053c0045t0123 a0058c0038t0002 a0061c0036t0098 a0063c0041t0002 a0063c0041t0113 a0071c0065t0007 a0073c0086t0001 a0074c0224t0001 a0079c0186t0007 a0080c0222t0001 a0084c0200t0029 a0086c0198t0108 a0090c0216t0007 a0092c0195t0002 a0094c0193t0028 a0098c0205t0112 a0100c0204t0122 a0104c0069t0001 a0110c0079t0028 a0112c0072t0047 a0114c0076t0001 a0115c0073t0001 a0116c0185t0002 a0122c0158t0001 a0123c0157t0001 a0124c0161t0002 a0126c0160t0001 a0129c0088t0047 a0130c0089t0001 a0133c0093t0118 a0136c0096t0095 a0139c0137t0149 a0142c0117t0029 a0145c0131t0109 a0147c0124t0002 a0149c0174t0002 a0150c0128t0029 a0151c0127t0001 a0155c0122t0001 a0160c0100t0002 a0162c0102t0001 a0165c0170t0119 a0167c0109t0001 a0168c0110t0002 a0182c0139t0126 a0185c0153t0007 a0188c0154t0120 a0190c0227t0018	a0001c0002t0001g0070 a0001c0002t0001g0074 a0001c0002t0001g0117 others(140): Show a0001c0002t0001g0070 a0001c0002t0001g0074 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0123 a0001c0002t0001g0211 a0001c0002t0001g0235 a0001c0002t0001g0241 a0001c0002t0001g0247 a0001c0002t0001g0257 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0002g0064 a0001c0002t0028g0059 a0001c0002t0152g0071 a0001c0012t0001g0161 a0001c0012t0001g0168 a0001c0012t0002g0157 a0001c0012t0099g0165 a0001c0112t0001g0116 a0001c0113t0002g0058 a0002c0001t0001g0061 a0002c0001t0001g0066 a0002c0001t0001g0114 a0002c0001t0001g0150 a0002c0001t0001g0181 a0002c0001t0001g0232 a0002c0001t0001g0256 a0002c0001t0001g0298 a0002c0001t0002g0005 a0002c0001t0002g0110 a0002c0001t0002g0115 a0002c0001t0041g0182 a0002c0001t0093g0075 a0002c0001t0094g0148 a0002c0001t0116g0073 a0002c0173t0002g0167 a0003c0004t0001g0076 a0003c0004t0001g0100 a0003c0004t0001g0102 a0003c0004t0001g0103 a0003c0004t0001g0242 a0003c0004t0001g0243 a0003c0004t0001g0294 a0003c0004t0002g0095 a0003c0004t0002g0139 a0003c0004t0002g0174 a0003c0004t0043g0223 a0003c0004t0043g0278 a0003c0004t0100g0224 a0003c0004t0104g0077 a0003c0024t0001g0158 a0003c0024t0001g0162 a0003c0024t0111g0178 a0005c0005t0001g0343 a0005c0005t0001g0357 a0005c0005t0001g0359 a0005c0005t0001g0381 a0005c0005t0002g0308 a0005c0005t0002g0344 a0005c0005t0002g0345 a0005c0005t0002g0346 a0005c0005t0002g0347 a0005c0005t0115g0356 a0010c0010t0041g0363 a0011c0017t0001g0350 a0011c0017t0002g0310 a0019c0040t0092g0204 a0020c0015t0002g0088 a0020c0015t0002g0128 a0020c0015t0114g0209 a0021c0049t0001g0321 a0021c0049t0002g0342 a0021c0203t0002g0320 a0026c0057t0007g0008 a0026c0210t0055g0017 a0028c0025t0001g0038 a0028c0025t0001g0039 a0028c0084t0001g0046 a0029c0029t0101g0041 a0033c0021t0018g0002 a0033c0021t0018g0244 a0040c0052t0001g0326 a0040c0052t0001g0385 a0043c0032t0053g0013 a0043c0032t0121g0033 a0044c0031t0002g0030 a0044c0031t0002g0045 a0048c0027t0002g0048 a0048c0027t0002g0055 a0049c0026t0001g0003 a0050c0048t0007g0191 a0050c0048t0007g0192 a0051c0044t0001g0004 a0053c0045t0123g0084 a0058c0038t0002g0067 a0058c0038t0002g0200 a0061c0036t0098g0082 a0063c0041t0002g0143 a0063c0041t0113g0079 a0071c0065t0007g0021 a0073c0086t0001g0057 a0074c0224t0001g0322 a0079c0186t0007g0328 a0080c0222t0001g0373 a0084c0200t0029g0319 a0086c0198t0108g0367 a0090c0216t0007g0313 a0092c0195t0002g0305 a0094c0193t0028g0354 a0098c0205t0112g0349 a0100c0204t0122g0368 a0104c0069t0001g0032 a0110c0079t0028g0040 a0112c0072t0047g0027 a0114c0076t0001g0056 a0115c0073t0001g0034 a0116c0185t0002g0302 a0122c0158t0001g0228 a0123c0157t0001g0183 a0124c0161t0002g0080 a0126c0160t0001g0144 a0129c0088t0047g0268 a0130c0089t0001g0267 a0133c0093t0118g0238 a0136c0096t0095g0065 a0139c0137t0149g0142 a0142c0117t0029g0062 a0145c0131t0109g0104 a0147c0124t0002g0130 a0149c0174t0002g0170 a0150c0128t0029g0113 a0151c0127t0001g0091 a0155c0122t0001g0220 a0160c0100t0002g0121 a0162c0102t0001g0140 a0165c0170t0119g0160 a0167c0109t0001g0288 a0168c0110t0002g0120 a0182c0139t0126g0124 a0185c0153t0007g0293 a0188c0154t0120g0111 a0190c0227t0018g0388	148	400	0.3700	-85	c.16 others(96): Show c.1647_*1731delTGGGTGGGCGGCCGGCTCTTCCCAGGGTGGACCA GGTGGGCGGCCGGCTCCGCGGGACGGTCGCCTGGACCTTCCCGGGGTGGA C	CCDC187	ENSG00000260220.7	transcript	ENST00000638797.2	protein_coding	26/26	1647		chr9	TogoVar
CCDC187_chr9_136244973_136309094	136251956	CGGGAAGG others(78): Show CGGGAAGGTCCAGGCGACCGTCCCGCGGAGCCGGCCGCCCACCTGGTCCA CCCTGGGAAGAGCCGGCCGCCCACCCAGTCCACCCT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0179 a0179	a0179c0147 a0179c0147	a0179c0147t0088 a0179c0147t0088	a0179c0147t0088g0236 a0179c0147t0088g0236	1	400	0.0025	-85	c.15 others(96): Show c.1553_*1637delAGGGTGGACTGGGTGGGCGGCCGGCTCTTCCCAG GGTGGACCAGGTGGGCGGCCGGCTCCGCGGGACGGTCGCCTGGACCTTCC C	CCDC187	ENSG00000260220.7	transcript	ENST00000638797.2	protein_coding	26/26	1553		chr9	TogoVar
CCDC187_chr9_136244973_136309094	136251971	GACCGTCC others(78): Show GACCGTCCCGCGGAGCCGGCCGCCCACCTGGTCCACCCTGGGAAGAGCCG GCCGCCCACCCAGTCCACCCTGGGAAGGTCCAGGCA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01175.hp2 HG01952.hp2 NA18948.hp2 others(1): Show HG01175.hp2 HG01952.hp2 NA18948.hp2 NA19054.hp2	a0007 a0009 a0007 a0009	a0007c0014 a0007c0047 a0009c0008 a0007c0014 a0007c0047 a0009c0008	a0007c0014t0019 a0007c0047t0058 a0009c0008t0019 a0007c0014t0019 a0007c0047t0058 a0009c0008t0019	a0007c0014t0019g0007 a0007c0047t0058g0087 a0009c0008t0019g0133 a0007c0014t0019g0007 a0007c0047t0058g0087 a0009c0008t0019g0133	4	400	0.0100	-85	c.15 others(96): Show c.1538_*1622delTGCCTGGACCTTCCCAGGGTGGACTGGGTGGGCG GCCGGCTCTTCCCAGGGTGGACCAGGTGGGCGGCCGGCTCCGCGGGACGG T	CCDC187	ENSG00000260220.7	transcript	ENST00000638797.2	protein_coding	26/26	1538		chr9	TogoVar
CCDC187_chr9_136244973_136309094	136251975	GTCCCGCG others(78): Show GTCCCGCGGAGCCGGCCGCCCACCTGGTCCACCCTGGGAAGAGCCGGCCG CCCACCCAGTCCACCCTGGGAAGGTCCAGGCAACCA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0061 a0061	a0061c0036 a0061c0036	a0061c0036t0096 a0061c0036t0096	a0061c0036t0096g0272 a0061c0036t0096g0272	1	400	0.0025	-85	c.15 others(96): Show c.1534_*1618delTGGTTGCCTGGACCTTCCCAGGGTGGACTGGGTG GGCGGCCGGCTCTTCCCAGGGTGGACCAGGTGGGCGGCCGGCTCCGCGGG A	CCDC187	ENSG00000260220.7	transcript	ENST00000638797.2	protein_coding	26/26	1534		chr9	TogoVar
CCDC187_chr9_136244973_136309094	136252000	GGTCCACC others(78): Show GGTCCACCCTGGGAAGAGCCGGCCGCCCACCCAGTCCACCCTGGGAAGGT CCAGGCAACCATCCCGCACAGCCGGCCGCCCACCCC	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18941.hp2 NA18955.hp2 NA18941.hp2 NA18955.hp2	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0033 a0008c0007t0033	a0008c0007t0033g0239 a0008c0007t0033g0297 a0008c0007t0033g0239 a0008c0007t0033g0297	2	400	0.0050	-85	c.15 others(96): Show c.1509_*1593delGGGGTGGGCGGCCGGCTGTGCGGGATGGTTGCCT GGACCTTCCCAGGGTGGACTGGGTGGGCGGCCGGCTCTTCCCAGGGTGGA C	CCDC187	ENSG00000260220.7	transcript	ENST00000638797.2	protein_coding	26/26	1509		chr9	TogoVar
CCDC187_chr9_136244973_136309094	136252203	CCCACCCT others(78): Show CCCACCCTGGGAAGAGCCGGCCGCCCACCCAGTCCACCCCGGGAAGGTCC AGGCGACCGTCCTGCGGAGCCGGCCGCCCACCTGGT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18977.hp2 NA18998.hp1 NA19064.hp2 NA18977.hp2 NA18998.hp1 NA19064.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0030 a0004c0003t0030	a0004c0003t0030g0086 a0004c0003t0030g0205 a0004c0003t0030g0271 a0004c0003t0030g0086 a0004c0003t0030g0205 a0004c0003t0030g0271	3	400	0.0075	-85	c.13 others(96): Show c.1306_*1390delACCAGGTGGGCGGCCGGCTCCGCAGGACGGTCGC CTGGACCTTCCCGGGGTGGACTGGGTGGGCGGCCGGCTCTTCCCAGGGTG G	CCDC187	ENSG00000260220.7	transcript	ENST00000638797.2	protein_coding	26/26	1306		chr9	TogoVar
CCL17_chr16_57399767_57421063	57403220	ATTATTAT others(78): Show ATTATTATCTATAATATATATAATATATATTATTATCTATAATATATATA ATATATATTATTATCTATAATATATATAATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01192.hp1 HG01257.hp1 others(5): Show HG00639.hp2 HG01192.hp1 HG01257.hp1 HG01258.hp1 HG01515.hp1 HG01517.hp2 HG02738.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0038 a0001c0001t0002g0061 others(1): Show a0001c0001t0002g0018 a0001c0001t0002g0038 a0001c0001t0002g0061 a0001c0001t0002g0090	8	388	0.0206	-85	c.-16 others(96): Show c.-1675_-1591delTTATTATCTATAATATATATAATATATATTATTA TCTATAATATATATAATATATATTATTATCTATAATATATATAATATATA T	CCL17	ENSG00000102970.11	transcript	ENST00000219244.9	protein_coding		1546		chr16	TogoVar
CELF1_chr11_47460937_47558132	47541697	AGAAAGAA others(78): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAACGAAAGAAAGAACGAAAG AAAGAAAGAACGAAAGAAAGAACGAAAGAAAGAACG	A A	intron_variant intron_variant	MODIFIER	HG01975.hp2 NA18963.hp1 HG01975.hp2 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0259 a0001c0001t0003g0048 a0001c0001t0002g0259 a0001c0001t0003g0048	2	340	0.0059	-85	c.-15 others(106): Show c.-154+11210_-154+11294delCGTTCTTTCTTTCGTTCTTTCTTT CGTTCTTTCTTTCTTTCGTTCTTTCTTTCGTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTC	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding	1/14			chr11	TogoVar
CLDN8_chr21_30209006_30221097	30210219	CATATATA others(78): Show CATATATATATATATATATATATATATAGTCTCCCTAATTGTAATTCAAG GTACGTATGTGTATATATATATATATATATATATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0000 a0004c0004t0004g0000	1	466	0.0022	-85	c.49 others(96): Show c.4944_*5028delATATATATATATATATATATATATACACATACGT ACCTTGAATTACAATTAGGGAGACTATATATATATATATATATATATATA T	CLDN8	ENSG00000156284.6	transcript	ENST00000399899.2	protein_coding		3786		chr21	TogoVar
CLDN8_chr21_30209006_30221097	30210279	GTATATAT others(78): Show GTATATATATATATATATATATATATATATATATATATATATATATATAT AGTCTCCCTAATTCTAATTCAAGGTACATATATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	466	0.0022	-85	c.48 others(96): Show c.4884_*4968delTATATATATGTACCTTGAATTAGAATTAGGGAGA CTATATATATATATATATATATATATATATATATATATATATATATATAT A	CLDN8	ENSG00000156284.6	transcript	ENST00000399899.2	protein_coding		3726		chr21	TogoVar
CNKSR3_chr6_154382515_154515685	154504162	TAAAAGTG others(78): Show TAAAAGTGAGGAAATATGGCTCAAACTAATTTACCCAAGGAAAGCTCACG AAATTTGCAAGAGGCATTTATCACTCCGCTAATCAA	T T	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0288 a0001c0002t0022g0288	1	342	0.0029	-85	c.52+ others(100): Show c.52+5816_52+5900delTTGATTAGCGGAGTGATAAATGCCTCTTGC AAATTTCGTGAGCTTTCCTTGGGTAAATTAGTTTGAGCCATATTTCCTCA CTTTT	CNKSR3	ENSG00000153721.19	transcript	ENST00000607772.6	protein_coding	1/12			chr6	TogoVar
COBL_chr7_51011212_51321809	51288796	TGGGAAAT others(78): Show TGGGAAATAAGAACTGAATTCAAATACTAGTCTTCAAGATGGATATCTAT GGAAATACTCTTCTACCTACTCAACTAATTGTATGC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00597.hp1 HG00642.hp2 others(33): Show HG00408.hp1 HG00597.hp1 HG00642.hp2 HG01074.hp2 HG01169.hp2 HG01243.hp2 HG01934.hp1 HG02027.hp1 HG02074.hp2 HG02080.hp1 HG02155.hp1 HG02622.hp2 HG03139.hp2 HG03704.hp1 HG04199.hp2 HG04204.hp1 NA18612.hp1 NA18906.hp2 NA18943.hp1 NA18949.hp1 NA18950.hp2 NA18971.hp2 NA18978.hp1 NA18979.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp2 NA19002.hp1 NA19003.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19055.hp1 NA19068.hp1 NA19085.hp1 NA19087.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0011 a0012 a0013 a0017 a0018 a0031	a0001c0002 a0001c0004 a0001c0015 others(13): Show a0001c0002 a0001c0004 a0001c0015 a0002c0003 a0003c0001 a0004c0009 a0004c0010 a0005c0005 a0007c0018 a0008c0013 a0011c0014 a0012c0024 a0013c0017 a0017c0038 a0018c0039 a0031c0041	a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 others(14): Show a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 a0001c0015t0014 a0002c0003t0001 a0003c0001t0001 a0004c0009t0001 a0004c0010t0001 a0005c0005t0003 a0007c0018t0003 a0008c0013t0015 a0011c0014t0003 a0012c0024t0016 a0013c0017t0001 a0017c0038t0001 a0018c0039t0002 a0031c0041t0002	a0001c0002t0001g0158 a0001c0002t0002g0130 a0001c0002t0002g0131 others(33): Show a0001c0002t0001g0158 a0001c0002t0002g0130 a0001c0002t0002g0131 a0001c0002t0002g0132 a0001c0002t0002g0133 a0001c0002t0002g0135 a0001c0002t0002g0138 a0001c0002t0002g0142 a0001c0002t0002g0143 a0001c0002t0002g0147 a0001c0002t0002g0148 a0001c0002t0002g0152 a0001c0002t0002g0153 a0001c0002t0002g0156 a0001c0002t0002g0160 a0001c0004t0001g0139 a0001c0004t0001g0141 a0001c0015t0014g0013 a0002c0003t0001g0157 a0003c0001t0001g0149 a0004c0009t0001g0014 a0004c0010t0001g0129 a0005c0005t0003g0134 a0005c0005t0003g0150 a0005c0005t0003g0161 a0007c0018t0003g0144 a0008c0013t0015g0230 a0011c0014t0003g0145 a0011c0014t0003g0146 a0011c0014t0003g0155 a0011c0014t0003g0162 a0012c0024t0016g0229 a0013c0017t0001g0151 a0017c0038t0001g0154 a0018c0039t0002g0137 a0031c0041t0002g0140	36	230	0.1565	-85	c.41+ others(102): Show c.41+27712_41+27796delGCATACAATTAGTTGAGTAGGTAGAAGA GTATTTCCATAGATATCCATCTTGAAGACTAGTATTTGAATTCAGTTCTT ATTTCCC	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	1/12			chr7	TogoVar
COL18A1_chr21_45400165_45518720	45489912	GCCCCACA others(78): Show GCCCCACACCTCCTCCCCGACTTCCCCCTCCCCCACTTCCCCCTGCCCCA CACCTCCTCCCCCACACCCTCCCCCACTTCCCCGTC	G G	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0012 a0012	a0012c0088 a0012c0088	a0012c0088t0002 a0012c0088t0002	a0012c0088t0002g0006 a0012c0088t0002g0006	1	292	0.0034	-85	c.196 others(102): Show c.1960-345_1960-261delGACTTCCCCCTCCCCCACTTCCCCCTGC CCCACACCTCCTCCCCCACACCCTCCCCCACTTCCCCGTCCCCCACACCT CCTCCCC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	19/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45501782	CTCCACAG others(78): Show CTCCACAGCCGGTCACCTCTCTCTGCAGAAGGACCCCCAGGGGCTCCACA GCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00735.hp1 HG01255.hp2 others(3): Show HG00323.hp2 HG00735.hp1 HG01255.hp2 HG01515.hp2 HG01517.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0090 a0001c0001 a0001c0002 a0001c0090	a0001c0001t0001 a0001c0002t0002 a0001c0090t0002 a0001c0001t0001 a0001c0002t0002 a0001c0090t0002	a0001c0001t0001g0203 a0001c0002t0002g0088 a0001c0002t0002g0107 others(3): Show a0001c0001t0001g0203 a0001c0002t0002g0088 a0001c0002t0002g0107 a0001c0002t0002g0114 a0001c0002t0002g0117 a0001c0090t0002g0089	6	292	0.0206	-85	c.268 others(104): Show c.2684-2228_2684-2144delTCCACAGCCGGTCACCTCTCTCTGCA GAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGAC CCCCAGGGG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41			chr21	TogoVar
COL26A1_chr7_101357875_101564024	101489667	TCCTTCCT others(78): Show TCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTGTCTTTCTTTCTTTCATT CTTTCTTTCTCTCTCTCTTTCTCTCTTTCTTTCTTG	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0152 a0001c0001t0009g0152	1	174	0.0058	-85	c.385 others(104): Show c.385+41881_385+41965delCCTTCCTTCCTTCCTTTCTTTCTTTC TTTCTGTCTTTCTTTCTTTCATTCTTTCTTTCTCTCTCTCTTTCTCTCTT TCTTTCTTG	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12			chr7	TogoVar
COL6A1_chr21_45976770_46010048	45987929	CGGGGTCC others(78): Show CGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGG GCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGA	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0007 a0001c0022t0007	a0001c0022t0007g0046 a0001c0022t0007g0046	1	128	0.0078	-85	c.804 others(100): Show c.804+280_804+364delTCCAGATGGAGGGGACGGCGGGGTCCAGAT GGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGG AGGGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	8/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COMMD10_chr5_116080025_116298287	116158280	GTCTCCCC others(78): Show GTCTCCCCTCTCCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTC TCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCC	G G	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	350	0.0029	-85	c.510 others(104): Show c.510+24114_510+24198delCTCCCCTCTCTCCCTCTCCCCTCTCT CCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTC TCCCCTCTC	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD5_chr8_144845176_144858048	144849773	TGGGCTCT others(78): Show TGGGCTCTAGCCTCCTCCCTTGCACCCCTCCACACAGCAGCCAATCACCA GATCACGTCTCTCCTCTGCTGAAAACCCTCAGAAGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	428	0.0023	-85	c.80 others(94): Show c.806_*890delCCTTCTGAGGGTTTTCAGCAGAGGAGAGACGTGATC TGGTGATTGGCTGCTGTGTGGAGGGGTGCAAGGGAGGAGGCTAGAGCCC	COMMD5	ENSG00000170619.10	transcript	ENST00000305103.4	protein_coding		402		chr8	TogoVar
CPSF2_chr14_92116969_92177145	92173344	TGTATATA others(78): Show TGTATATATATATACGTATATATATATGTATATATATACGTATATATATA TATACACATATGTATATATATATATGTGTATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0028 a0001c0001t0010g0028	1	388	0.0026	-85	c.11 others(98): Show c.11601_*11685delGTATATATATATACGTATATATATATGTATAT ATATACGTATATATATATATACACATATGTATATATATATATGTGTATAT ATA	CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding		1200		chr14	TogoVar
CSMD1_chr8_2930361_4999914	3411950	ATATACAC others(78): Show ATATACACGTATATATGCACGTATATATACACGTATATATACGTGTATAT ACACGTATATATATACATATACACACGTATATATAC	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03139.hp1 NA18906.hp2 HG02647.hp2 HG03139.hp1 NA18906.hp2	a0002 a0008 a0002 a0008	a0002c0074 a0002c0084 a0008c0067 a0002c0074 a0002c0084 a0008c0067	a0002c0074t0041 a0002c0084t0018 a0008c0067t0059 a0002c0074t0041 a0002c0084t0018 a0008c0067t0059	a0002c0074t0041g0031 a0002c0084t0018g0087 a0008c0067t0059g0079 a0002c0074t0041g0031 a0002c0084t0018g0087 a0008c0067t0059g0079	3	126	0.0238	-85	c.156 others(104): Show c.1562-2430_1562-2346delGTATATATACGTGTGTATATGTATAT ATATACGTGTATATACACGTATATATACGTGTATATATACGTGCATATAT ACGTGTATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSNK1A1_chr5_149487982_149556439	149542607	TATATATA others(78): Show TATATATATATATATATATATATATATATATATGTATATATATATATATA TATATATATATATATGTATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA18979.hp2 NA19090.hp1 HG02257.hp2 NA18979.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0004 a0001c0001t0006	a0001c0001t0004g0261 a0001c0001t0006g0186 a0001c0001t0006g0187 a0001c0001t0004g0261 a0001c0001t0006g0186 a0001c0001t0006g0187	3	390	0.0077	-85	c.230 others(102): Show c.230+7383_230+7467delTATATATATATATATATATACATATATA TATATATATATATATATATATATACATATATATATATATATATATATATA TATATAT	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSNK1A1_chr5_149487982_149556439	149542608	ATATATAT others(78): Show ATATATATATATATATATATATATATATATATGTATATATATATATATAT ATATATATATATATGTATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18965.hp2 NA18969.hp2 others(2): Show NA18954.hp1 NA18965.hp2 NA18969.hp2 NA19003.hp2 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0020 a0001c0001t0034 a0001c0001t0006 a0001c0001t0020 a0001c0001t0034	a0001c0001t0006g0179 a0001c0001t0006g0180 a0001c0001t0006g0181 others(2): Show a0001c0001t0006g0179 a0001c0001t0006g0180 a0001c0001t0006g0181 a0001c0001t0020g0177 a0001c0001t0034g0178	5	390	0.0128	-85	c.230 others(102): Show c.230+7382_230+7466delATATATATATATATATATATACATATAT ATATATATATATATATATATATATACATATATATATATATATATATATAT ATATATA	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CST9L_chr20_23559732_23573484	23561006	TCCTTCCT others(78): Show TCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTC TTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	392	0.0026	-85	c.38 others(96): Show c.3857_*3941delGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGA AAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAGGAAGGAAG G	CST9L	ENSG00000101435.5	transcript	ENST00000376979.4	protein_coding		3725		chr20	TogoVar
CTDP1_chr18_79674803_79759503	79745270	TCCCGTGC others(78): Show TCCCGTGCGCGTTCTGTCCCTGCGTCCCTCCCGTGCGCGTTCTGTCCCTG CGTCCCTCCCGTGCGCGTTCTGTGCCCGCGTCCCTC	T T	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0317 a0004c0004t0003g0317	1	378	0.0027	-85	c.274 others(104): Show c.2748-8379_2748-8295delCGTGCGCGTTCTGTCCCTGCGTCCCT CCCGTGCGCGTTCTGTCCCTGCGTCCCTCCCGTGCGCGTTCTGTGCCCGC GTCCCTCCC	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
DAGLB_chr7_6404129_6452954	6421309	AGGCAGCG others(78): Show AGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAG GCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAG	A A	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA18983.hp1 HG02071.hp1 NA18983.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0141 a0001c0002t0002g0152 a0001c0002t0002g0141 a0001c0002t0002g0152	2	380	0.0053	-85	c.121 others(102): Show c.1218+333_1218+417delCTCCCGCGCTGCCTGCGCCTCCCGCGCT GCCTGCGCCTCCCGCGCTGCCTGCGCCTCCCGCGCTGCCTGCGCCTCCCG CGCTGCC	DAGLB	ENSG00000164535.15	transcript	ENST00000297056.11	protein_coding	9/14			chr7	TogoVar
DGKB_chr7_14140049_14907751	14211447	ATTTACTC others(78): Show ATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACT CTCATGTTTTGTGATTTTACTCTCATGTTTTGTGAT	A A	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02630.hp1 HG02165.hp2 HG02630.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0035 a0001c0004t0004 a0001c0003t0035 a0001c0004t0004	a0001c0003t0035g0126 a0001c0004t0004g0118 a0001c0003t0035g0126 a0001c0004t0004g0118	2	148	0.0135	-85	c.212 others(106): Show c.2123-33381_2123-33297delATCACAAAACATGAGAGTAAAATC ACAAAACATGAGAGTAAATATCACAAAACATGAGAGTAAAATCACAAAAC ATGAGAGTAAA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14211683	TTTTACTC others(78): Show TTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACT CTCATGTTTTGTGATATTTACTCTCATGTTTTGTGA	T T	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA19081.hp2 NA18993.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0037 a0001c0001t0007g0121 a0001c0001t0007g0037 a0001c0001t0007g0121	2	148	0.0135	-85	c.212 others(106): Show c.2123-33617_2123-33533delTCACAAAACATGAGAGTAAATATC ACAAAACATGAGAGTAAATATCACAAAACATGAGAGTAAAATCACAAAAC ATGAGAGTAAA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14211748	ATTTACTC others(78): Show ATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACT CTCATGTTTTGTGATTTTACTCTCATGTTTTGTGAT	A A	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0095 a0001c0001t0028g0095	1	148	0.0068	-85	c.212 others(106): Show c.2123-33682_2123-33598delATCACAAAACATGAGAGTAAAATC ACAAAACATGAGAGTAAATATCACAAAACATGAGAGTAAAATCACAAAAC ATGAGAGTAAA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14212322	TTTTACTC others(78): Show TTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACT CTCGTGTTTTGTGATATTTACTCTCATGTTTTGTGA	T T	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0132 a0001c0001t0007g0132	1	148	0.0068	-85	c.212 others(106): Show c.2123-34256_2123-34172delTCACAAAACATGAGAGTAAATATC ACAAAACACGAGAGTAAAATCACAAAACATGAGAGTAAATATCACAAAAC ATGAGAGTAAA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKD_chr2_233349494_233477098	233463430	CTCCTCAC others(78): Show CTCCTCACTCCACGCATCTCCTCACTCCACGCATGTCCTCACTGCACGCA TGTCCTCACTGCACGCATGTCCTCACTGCACGCATG	C C	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG03453.hp1 HG01358.hp2 HG03453.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0041 a0001c0004t0043 a0001c0004t0041 a0001c0004t0043	a0001c0004t0041g0161 a0001c0004t0043g0173 a0001c0004t0041g0161 a0001c0004t0043g0173	2	336	0.0060	-85	c.318 others(102): Show c.3187-700_3187-616delGTCCTCACTGCACGCATGTCCTCACTGC ACGCATGTCCTCACTGCACGCATGTCCTCACTCCACGCATCTCCTCACTC CACGCAT	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DHRS12_chr13_51762993_51809163	51774698	AGTATTCT others(78): Show AGTATTCTACTACATGTATTCTCCTACAGTACATGTATTCTCCTACAGTA TTCTCCTACAGTATTCTCCTACATGTATTCTCCTAC	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01109.hp2 HG01255.hp1 others(5): Show HG01081.hp2 HG01109.hp2 HG01255.hp1 HG01943.hp1 HG01993.hp2 HG02148.hp2 HG02273.hp2 HG02976.hp2	a0002 a0002	a0002c0002 a0002c0010 a0002c0002 a0002c0010	a0002c0002t0003 a0002c0010t0003 a0002c0002t0003 a0002c0010t0003	a0002c0002t0003g0002 a0002c0002t0003g0049 a0002c0002t0003g0050 others(4): Show a0002c0002t0003g0002 a0002c0002t0003g0049 a0002c0002t0003g0050 a0002c0002t0003g0176 a0002c0002t0003g0231 a0002c0002t0003g0252 a0002c0010t0003g0253	8	420	0.0191	-85	c.364 others(100): Show c.364-749_364-665delGTAGGAGAATACATGTAGGAGAATACTGTA GGAGAATACTGTAGGAGAATACATGTACTGTAGGAGAATACATGTAGTAG AATAC	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DHRS12_chr13_51762993_51809163	51774973	AGTATTCT others(78): Show AGTATTCTCCTACATGTATTCTCCTACAGTACATGTATTCTCCTACAGTA TTCTCCTACAGTATTCTCCTACATGTATTCTCCTAC	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02559.hp1 HG02922.hp1 others(3): Show HG02486.hp2 HG02559.hp1 HG02922.hp1 HG03453.hp1 HG03516.hp2 HG03579.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0017 a0002c0002t0003g0190 a0002c0002t0003g0217 others(2): Show a0002c0002t0003g0017 a0002c0002t0003g0190 a0002c0002t0003g0217 a0002c0002t0003g0218 a0002c0002t0003g0247	6	420	0.0143	-85	c.364 others(101): Show c.364-1024_364-940delGTAGGAGAATACATGTAGGAGAATACTGT AGGAGAATACTGTAGGAGAATACATGTACTGTAGGAGAATACATGTAGGA GAATAC	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DHRS12_chr13_51762993_51809163	51775248	AGTATTCT others(78): Show AGTATTCTACTACATGTATTCTCCTACAGTACATGTATTCTCCTACAGTA TTCTCCTACAGTATTCTCCTACATGTATTCTCCTAC	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01109.hp1 HG01255.hp1 others(7): Show HG00735.hp1 HG01109.hp1 HG01255.hp1 HG02148.hp2 HG02258.hp1 HG02572.hp1 HG02615.hp1 HG02723.hp2 HG02896.hp1 HG03130.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0003 a0001c0001t0003 a0002c0002t0003	a0001c0001t0003g0259 a0002c0002t0003g0049 a0002c0002t0003g0050 others(6): Show a0001c0001t0003g0259 a0002c0002t0003g0049 a0002c0002t0003g0050 a0002c0002t0003g0154 a0002c0002t0003g0157 a0002c0002t0003g0175 a0002c0002t0003g0192 a0002c0002t0003g0207 a0002c0002t0003g0209	10	420	0.0238	-85	c.364 others(102): Show c.364-1299_364-1215delGTAGGAGAATACATGTAGGAGAATACTG TAGGAGAATACTGTAGGAGAATACATGTACTGTAGGAGAATACATGTAGT AGAATAC	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DHRS12_chr13_51762993_51809163	51775523	AGTATTCT others(78): Show AGTATTCTCCTACATGTATTCTCCTACAGTACATGTATTCTCCTACAGTA TTCTCCTACAGTATTCTCCTACATGTATTCTCCTAC	A A	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02976.hp2 HG01361.hp2 HG02976.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0176 a0002c0002t0003g0232 a0002c0002t0003g0176 a0002c0002t0003g0232	2	420	0.0048	-85	c.363 others(102): Show c.363+1452_364-1490delGTAGGAGAATACATGTAGGAGAATACTG TAGGAGAATACTGTAGGAGAATACATGTACTGTAGGAGAATACATGTAGG AGAATAC	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DHRS12_chr13_51762993_51809163	51775780	TCTACAGT others(78): Show TCTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTCCTACAGTAC ATGTATTCTCCTACAGTATTCTCCTACAGTATTCTC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01243.hp1 HG03453.hp2 others(9): Show HG00423.hp1 HG01243.hp1 HG03453.hp2 HG04204.hp1 NA18612.hp1 NA18964.hp2 NA18990.hp2 NA18991.hp1 NA18998.hp2 NA18999.hp2 NA19074.hp1 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0003	a0001c0001t0001g0012 a0001c0001t0001g0039 a0001c0001t0001g0070 others(6): Show a0001c0001t0001g0012 a0001c0001t0001g0039 a0001c0001t0001g0070 a0001c0001t0001g0102 a0001c0001t0001g0115 a0001c0001t0001g0120 a0001c0001t0001g0121 a0002c0002t0003g0042 a0002c0002t0003g0174	12	420	0.0286	-85	c.363 others(102): Show c.363+1195_363+1279delGAGAATACTGTAGGAGAATACTGTAGGA GAATACATGTACTGTAGGAGAATACATGTAGGAGAATACTGTAGGAGAAT ACTGTAG	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DHRS12_chr13_51762993_51809163	51775889	TCTACAGT others(78): Show TCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACATGTACTC TACAGTATTCTCCTACATGTATTCTACAGTATTCTC	T T	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	420	0.0024	-85	c.363 others(102): Show c.363+1086_363+1170delGAGAATACTGTAGAATACATGTAGGAGA ATACTGTAGAGTACATGTAGGAGAATACTGTAGAATACATGTAGGAGAAT ACTGTAG	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DHRSX_chrX_2214506_2505976	2279651	GAGAGAGA others(78): Show GAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGG AGAGAGAAGGAAGAGGAGGAAATGGGGGAGAGAGAA	G G	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	50	0.0200	-85	c.388 others(104): Show c.388+11766_388+11850delTTCTCTCTCCCCCATTTCCTCCTCTT CCTTCTCTCTCCCTCTCGTTTGCCCTCCCTCTCTCTCCCCGTTCCCTCTC CATCTCTCT	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2282211	AAGAGAGA others(78): Show AAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGG AGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	50	0.0200	-85	c.388 others(102): Show c.388+9206_388+9290delCTCTCTTTCCCCCATTTCCTCCTCTTCC TTCTCTCTCCCTCTCGTTTGCCCTCCCTCTCTCTCCCCGTTCCCTCTCCA TCTCTCT	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2320174	TCTCAGTG others(78): Show TCTCAGTGTCCCTCAAGATTCTTAGAACACAGAACTTGCCCATTCATTTA CATATTGCGCTGTTGTGGTAGCGATCATATGACCCA	T T	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	50	0.0200	-85	c.287 others(104): Show c.287-28656_287-28572delTGGGTCATATGATCGCTACCACAACA GCGCAATATGTAAATGAATGGGCAAGTTCTGTGTTCTAAGAATCTTGAGG GACACTGAG	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DOCK8_chr9_209865_470255	400442	CCACCACC others(78): Show CCACCACCAGCATCTTCACCATCACCACCACCCACCTCCTTCACCATCAC CACCACCTCCACCATCACCACCACCACCTCCACCAT	C C	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0018 a0018	a0018c0086 a0018c0086	a0018c0086t0006 a0018c0086t0006	a0018c0086t0006g0030 a0018c0086t0006g0030	1	256	0.0039	-85	c.323 others(104): Show c.3234+1192_3234+1276delGCATCTTCACCATCACCACCACCCAC CTCCTTCACCATCACCACCACCTCCACCATCACCACCACCACCTCCACCA TCACCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOK5_chr20_54470593_54656169	54481009	CATCTATC others(78): Show CATCTATCTATCTATCATCTATCTATCATCTATCTATCATCTGTCTATCA TCTATCTATCATCTATCTATCTATCATCTACCATCT	C C	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02055.hp1 HG02109.hp1 others(11): Show HG01074.hp1 HG02055.hp1 HG02109.hp1 HG02717.hp2 HG02809.hp2 HG02895.hp1 HG02976.hp1 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03540.hp2 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0012 a0001c0001t0016 a0001c0001t0020 others(4): Show a0001c0001t0012 a0001c0001t0016 a0001c0001t0020 a0001c0001t0021 a0001c0002t0001 a0001c0002t0007 a0001c0002t0015	a0001c0001t0012g0121 a0001c0001t0012g0122 a0001c0001t0012g0127 others(11): Show a0001c0001t0012g0121 a0001c0001t0012g0122 a0001c0001t0012g0127 a0001c0001t0012g0129 a0001c0001t0016g0063 a0001c0001t0020g0123 a0001c0001t0020g0124 a0001c0001t0021g0125 a0001c0001t0021g0128 a0001c0002t0001g0118 a0001c0002t0007g0119 a0001c0002t0007g0120 a0001c0002t0015g0109 a0001c0002t0015g0126	14	130	0.1077	-85	c.66+ others(100): Show c.66+5009_66+5093delTATCATCTATCTATCATCTATCTATCATCT GTCTATCATCTATCTATCATCTATCTATCTATCATCTACCATCTATCTAT CTATC	DOK5	ENSG00000101134.12	transcript	ENST00000262593.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr20	TogoVar
EBI3_chr19_4224523_4242528	4228423	CTCTCTGT others(78): Show CTCTCTGTCTCTGTCATCTCCCTGTCTCTCTATCCCTCTATCTCTGTGTC CTCCTCTCATCTGTCTCTCTGACTCTCTCATCTTTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 NA18906.hp2 HG02451.hp2 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0036 a0002c0002t0001g0036	2	438	0.0046	-85	c.-11 others(96): Show c.-1127_-1043delTCTCTGTCTCTGTCATCTCCCTGTCTCTCTATCC CTCTATCTCTGTGTCCTCCTCTCATCTGTCTCTCTGACTCTCTCATCTTT G	EBI3	ENSG00000105246.6	transcript	ENST00000221847.6	protein_coding		1099		chr19	TogoVar

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Search Results (Total: 10000 hits)