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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
DYNC2H1_chr11_103104426_103484863	103233865	TGTGTGTG others(7): Show TGTGTGTGTGTGTGG	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0008 a0008	a0008c0020 a0008c0020	a0008c0020t0003 a0008c0020t0003	a0008c0020t0003g0169 a0008c0020t0003g0169	1	262	0.0038	-14	c.944 others(31): Show c.9441-166_9441-153delGTGTGTGTGTGGGT		DYNC2H1	ENSG00000187240.17	transcript	ENST00000375735.7	protein_coding	60/88					INFO_REALIGN_3_PRIME	chr11	TogoVar
DYNC2H1_chr11_103104426_103484863	103372032	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0070 a0002c0007t0001g0070	1	262	0.0038	-14	c.121 others(37): Show c.12156+13686_12156+13699delTTTTTTTTTTTTTT		DYNC2H1	ENSG00000187240.17	transcript	ENST00000375735.7	protein_coding	83/88					INFO_REALIGN_3_PRIME	chr11	TogoVar
DYNC2H1_chr11_103104426_103484863	103391626	TTTTATCT others(7): Show TTTTATCTACCTTTG	T T	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0001 a0001c0029t0001	a0001c0029t0001g0099 a0001c0029t0001g0099	1	262	0.0038	-14	c.121 others(35): Show c.12157-8036_12157-8023delTTTATCTACCTTTG		DYNC2H1	ENSG00000187240.17	transcript	ENST00000375735.7	protein_coding	83/88						chr11	TogoVar
DYNC2H1_chr11_103104426_103484863	103475456	AGAACTTC others(7): Show AGAACTTCTATATAC	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0076 a0004c0004t0001g0076	1	262	0.0038	-14	c.127 others(35): Show c.12766-3638_12766-3625delGAACTTCTATATAC		DYNC2H1	ENSG00000187240.17	transcript	ENST00000375735.7	protein_coding	88/88						chr11	TogoVar
DYNC2I2_chr9_128628653_128661847	128645616	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01496.hp1 HG02258.hp1 others(5): Show HG01099.hp1 HG01496.hp1 HG02258.hp1 HG02280.hp1 HG02965.hp1 NA18906.hp2 NA19030.hp1 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0001 a0001c0005t0001 a0001c0003t0001 a0001c0005t0001	a0001c0003t0001g0050 a0001c0003t0001g0051 a0001c0003t0001g0281 others(5): Show a0001c0003t0001g0050 a0001c0003t0001g0051 a0001c0003t0001g0281 a0001c0003t0001g0282 a0001c0003t0001g0283 a0001c0003t0001g0286 a0001c0005t0001g0284 a0001c0005t0001g0285	8	368	0.0217	-14	c.187 others(31): Show c.187-4691_187-4678delTTTTTTTTTTTTTT		DYNC2I2	ENSG00000119333.12	transcript	ENST00000372715.7	protein_coding	1/8						chr9	TogoVar
DYNLT2B_chr3_196286219_196323240	196321801	AGAGCGAG others(7): Show AGAGCGAGACTCCAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02896.hp1 HG02897.hp2 others(3): Show HG02486.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG03540.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0160 a0001c0001t0001g0161 others(3): Show a0001c0001t0001g0057 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0239	6	330	0.0182	-14	c.-36 others(25): Show c.-3663_-3650delATGGAGTCTCGCTC		DYNLT2B	ENSG00000213123.11	transcript	ENST00000325318.10	protein_coding					3562		chr3	TogoVar
DYRK1A_chr21_37361773_37531358	37403661	ATATGTGT others(7): Show ATATGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02647.hp2 HG02109.hp1 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0087 a0001c0001t0058 a0001c0001t0087	a0001c0001t0058g0315 a0001c0001t0087g0314 a0001c0001t0058g0315 a0001c0001t0087g0314	2	350	0.0057	-14	c.-76 others(33): Show c.-76-16636_-76-16623delATGTGTGTGTGTGT		DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK1A_chr21_37361773_37531358	37403663	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp2 HG02015.hp1 others(3): Show HG00438.hp1 HG00597.hp2 HG02015.hp1 HG02083.hp1 HG02293.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0039 a0001c0001t0002 a0001c0001t0004 a0001c0001t0039	a0001c0001t0002g0186 a0001c0001t0002g0237 a0001c0001t0004g0220 others(3): Show a0001c0001t0002g0186 a0001c0001t0002g0237 a0001c0001t0004g0220 a0001c0001t0004g0221 a0001c0001t0004g0223 a0001c0001t0039g0235	6	350	0.0171	-14	c.-76 others(33): Show c.-76-16612_-76-16599delGTGTGTGTGTGTGT		DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK1A_chr21_37361773_37531358	37479598	TTGTTTTT others(7): Show TTGTTTTTGTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02109.hp1 HG02258.hp1 others(9): Show HG01891.hp2 HG02109.hp1 HG02258.hp1 HG02486.hp2 HG02922.hp2 HG02965.hp1 HG03139.hp1 HG03209.hp1 HG03486.hp1 HG03540.hp1 NA18957.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0023 a0001c0001t0026 others(7): Show a0001c0001t0016 a0001c0001t0023 a0001c0001t0026 a0001c0001t0057 a0001c0001t0058 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0088 a0001c0001t0155	a0001c0001t0016g0020 a0001c0001t0016g0025 a0001c0001t0016g0026 others(9): Show a0001c0001t0016g0020 a0001c0001t0016g0025 a0001c0001t0016g0026 a0001c0001t0023g0015 a0001c0001t0026g0019 a0001c0001t0057g0316 a0001c0001t0058g0315 a0001c0001t0060g0021 a0001c0001t0061g0022 a0001c0001t0062g0024 a0001c0001t0088g0023 a0001c0001t0155g0014	12	350	0.0343	-14	c.301 others(31): Show c.301-1038_301-1025delGTTTTTGTTTTTGT		DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	4/11					INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK1A_chr21_37361773_37531358	37479606	GTTTTTGT others(7): Show GTTTTTGTTTTTTGT	G G	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0313 a0001c0001t0059g0313	1	350	0.0029	-14	c.301 others(31): Show c.301-1026_301-1013delGTTTTTTGTTTTTT		DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	4/11					INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK1A_chr21_37361773_37531358	37495152	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(110): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01081.hp2 HG01169.hp2 HG01175.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01361.hp2 HG01433.hp1 HG01884.hp2 HG01943.hp1 HG01975.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp2 HG02056.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02155.hp2 HG02257.hp1 HG02273.hp1 HG02293.hp2 HG02486.hp1 HG02630.hp1 HG02683.hp1 HG02717.hp2 HG02809.hp1 HG02895.hp1 HG02965.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03195.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03490.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG04115.hp1 HG04199.hp2 NA18906.hp1 NA18939.hp2 NA18943.hp1 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18960.hp1 NA18963.hp2 NA18965.hp2 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp2 NA18971.hp2 NA18977.hp1 NA18978.hp1 NA18980.hp2 NA18981.hp2 NA18983.hp2 NA18989.hp2 NA18995.hp1 NA18999.hp1 NA19000.hp2 NA19002.hp2 NA19003.hp2 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19056.hp1 NA19060.hp2 NA19062.hp2 NA19064.hp1 NA19074.hp2 NA19076.hp2 NA19078.hp1 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp2 NA19088.hp2 NA20300.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(44): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0017 a0001c0001t0019 a0001c0001t0027 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0047 a0001c0001t0052 a0001c0001t0054 a0001c0001t0073 a0001c0001t0076 a0001c0001t0077 a0001c0001t0116 a0001c0001t0118 a0001c0001t0119 a0001c0001t0120 a0001c0001t0121 a0001c0001t0122 a0001c0001t0123 a0001c0001t0124 a0001c0001t0125 a0001c0001t0126 a0001c0001t0127 a0001c0001t0128 a0001c0001t0129 a0001c0001t0130 a0001c0001t0131 a0001c0001t0132 a0001c0001t0133 a0001c0001t0134 a0001c0001t0135 a0001c0001t0139 a0001c0001t0140 a0001c0001t0154 a0001c0001t0165 a0001c0005t0004	a0001c0001t0002g0106 a0001c0001t0002g0111 a0001c0001t0002g0113 others(108): Show a0001c0001t0002g0106 a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0123 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0207 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0212 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0237 a0001c0001t0002g0249 a0001c0001t0003g0120 a0001c0001t0003g0152 a0001c0001t0003g0232 a0001c0001t0003g0301 a0001c0001t0003g0302 a0001c0001t0003g0303 a0001c0001t0003g0304 a0001c0001t0003g0305 a0001c0001t0003g0306 a0001c0001t0003g0307 a0001c0001t0003g0309 a0001c0001t0003g0311 a0001c0001t0004g0119 a0001c0001t0004g0220 a0001c0001t0004g0221 a0001c0001t0004g0222 a0001c0001t0004g0223 a0001c0001t0004g0227 a0001c0001t0010g0327 a0001c0001t0010g0332 a0001c0001t0010g0333 a0001c0001t0010g0334 a0001c0001t0010g0336 a0001c0001t0011g0003 a0001c0001t0011g0337 a0001c0001t0011g0338 a0001c0001t0012g0115 a0001c0001t0012g0116 a0001c0001t0012g0121 a0001c0001t0012g0124 a0001c0001t0012g0125 a0001c0001t0017g0203 a0001c0001t0017g0204 a0001c0001t0017g0206 a0001c0001t0019g0265 a0001c0001t0019g0266 a0001c0001t0019g0267 a0001c0001t0027g0331 a0001c0001t0027g0343 a0001c0001t0034g0001 a0001c0001t0035g0194 a0001c0001t0035g0197 a0001c0001t0036g0230 a0001c0001t0037g0248 a0001c0001t0038g0308 a0001c0001t0038g0310 a0001c0001t0039g0208 a0001c0001t0039g0235 a0001c0001t0040g0190 a0001c0001t0040g0228 a0001c0001t0041g0299 a0001c0001t0041g0300 a0001c0001t0047g0012 a0001c0001t0052g0216 a0001c0001t0054g0112 a0001c0001t0073g0335 a0001c0001t0076g0205 a0001c0001t0077g0342 a0001c0001t0116g0339 a0001c0001t0118g0340 a0001c0001t0119g0199 a0001c0001t0120g0215 a0001c0001t0121g0195 a0001c0001t0122g0312 a0001c0001t0123g0005 a0001c0001t0124g0224 a0001c0001t0125g0226 a0001c0001t0126g0239 a0001c0001t0127g0114 a0001c0001t0128g0202 a0001c0001t0129g0238 a0001c0001t0130g0217 a0001c0001t0131g0191 a0001c0001t0132g0183 a0001c0001t0133g0241 a0001c0001t0134g0240 a0001c0001t0135g0236 a0001c0001t0139g0242 a0001c0001t0140g0231 a0001c0001t0154g0134 a0001c0001t0165g0174 a0001c0005t0004g0225	113	350	0.3229	-14	c.107 others(31): Show c.1072-929_1072-916delTGTGTGTGTGTGTG		DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	8/11					INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK1B_chr19_39820350_39839162	39823577	GCGCACAC others(7): Show GCGCACACACACACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG03130.hp1 HG03453.hp1 HG02922.hp2 HG03130.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	3	372	0.0081	-14	c.21 others(25): Show c.2124_*2137delTGTGTGTGTGTGCG		DYRK1B	ENSG00000105204.14	transcript	ENST00000323039.10	protein_coding					1772		chr19	TogoVar
DYRK3_chr1_206630536_206660158	206657173	GCTGTTGA others(7): Show GCTGTTGATGATCTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	396	0.0025	-14	c.82 others(25): Show c.8209_*8222delCTGTTGATGATCTC		DYRK3	ENSG00000143479.18	transcript	ENST00000367109.8	protein_coding					2016		chr1	TogoVar
DYRK3_chr1_206630536_206660158	206659808	GCACACAC others(7): Show GCACACACACACACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01943.hp1 HG01099.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0027 a0001c0001t0001 a0001c0001t0027	a0001c0001t0001g0001 a0001c0001t0027g0114 a0001c0001t0001g0001 a0001c0001t0027g0114	2	396	0.0051	-14	c.10 others(27): Show c.10844_*10857delCACACACACACACA		DYRK3	ENSG00000143479.18	transcript	ENST00000367109.8	protein_coding					4651		chr1	TogoVar
DYRK4_chr12_4557208_4618875	4602548	ATATAAGC others(7): Show ATATAAGCCAACGGC	A A	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18972.hp2 NA18979.hp1 others(2): Show NA18968.hp1 NA18972.hp2 NA18979.hp1 NA19060.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0008 a0001c0001t0001g0100 a0001c0001t0001g0101 others(1): Show a0001c0001t0001g0008 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0005t0001g0193	5	414	0.0121	-14	c.112 others(33): Show c.1127-2364_1127-2351delATAAGCCAACGGCT		DYRK4	ENSG00000010219.14	transcript	ENST00000543431.6	protein_coding	10/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
DYSF_chr2_71448561_71691763	71662707	TTGTATGT others(7): Show TTGTATGTATGTGTG	T T	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0044 a0001c0019t0001g0044	1	192	0.0052	-14	c.488 others(33): Show c.4887-1553_4887-1540delATGTGTGTGTATGT		DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	44/54					INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71662707	TTGTATGT others(7): Show TTGTATGTATGTGTG	T T	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0002 a0001c0019t0002	a0001c0019t0002g0187 a0001c0019t0002g0187	1	208	0.0048	-14	c.500 others(33): Show c.5004-1553_5004-1540delATGTGTGTGTATGT		DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	45/55					INFO_REALIGN_3_PRIME	chr2	TogoVar
DZANK1_chr20_18378367_18472030	18438235	AAAAAGAA others(7): Show AAAAAGAAATAACAC	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01943.hp2 HG03195.hp2 HG01109.hp2 HG01943.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0007t0012 a0001c0001t0001 a0001c0001t0002 a0001c0007t0012	a0001c0001t0001g0285 a0001c0001t0002g0287 a0001c0007t0012g0111 a0001c0001t0001g0285 a0001c0001t0002g0287 a0001c0007t0012g0111	3	374	0.0080	-14	c.805 others(31): Show c.805-4484_805-4471delGTGTTATTTCTTTT		DZANK1	ENSG00000089091.17	transcript	ENST00000699568.1	protein_coding	8/20						chr20	TogoVar
DZIP1_chr13_95573202_95649706	95603306	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0285	1	382	0.0026	-14	c.147 others(33): Show c.1477+2683_1477+2696delTTTTTTTTTTTTTT		DZIP1	ENSG00000134874.18	transcript	ENST00000376829.7	protein_coding	14/22						chr13	TogoVar
DZIP1_chr13_95573202_95649706	95610055	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	382	0.0026	-14	c.136 others(31): Show c.1364-556_1364-543delACACACACACACAC		DZIP1	ENSG00000134874.18	transcript	ENST00000376829.7	protein_coding	12/22						chr13	TogoVar
DZIP1_chr13_95573202_95649706	95637604	ATCTCTCT others(7): Show ATCTCTCTCTCTCTC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00673.hp2 others(62): Show HG00280.hp1 HG00438.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp1 HG01106.hp2 HG01192.hp2 HG01496.hp1 HG01943.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02486.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp2 HG02922.hp1 HG02970.hp2 HG03017.hp2 HG03130.hp2 HG03486.hp2 HG04228.hp1 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18943.hp2 NA18945.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18960.hp2 NA18964.hp1 NA18966.hp1 NA18970.hp2 NA18974.hp2 NA18982.hp1 NA18985.hp2 NA18986.hp2 NA18987.hp1 NA18989.hp2 NA18990.hp2 NA18995.hp1 NA18997.hp2 NA18998.hp2 NA19003.hp2 NA19007.hp2 NA19030.hp1 NA19062.hp2 NA19064.hp1 NA19068.hp2 NA19070.hp1 NA19079.hp1 NA19080.hp1 NA19086.hp1 NA19088.hp1 NA19090.hp1 NA20300.hp2 NA20752.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0003c0003 a0003c0013 others(2): Show a0001c0001 a0003c0003 a0003c0013 a0003c0015 a0005c0007	a0001c0001t0002 a0003c0003t0001 a0003c0003t0011 others(9): Show a0001c0001t0002 a0003c0003t0001 a0003c0003t0011 a0003c0003t0012 a0003c0003t0017 a0003c0003t0023 a0003c0003t0037 a0003c0003t0039 a0003c0013t0001 a0003c0015t0001 a0005c0007t0021 a0005c0007t0033	a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 others(59): Show a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0328 a0003c0003t0001g0001 a0003c0003t0001g0099 a0003c0003t0001g0100 a0003c0003t0001g0101 a0003c0003t0001g0102 a0003c0003t0001g0104 a0003c0003t0001g0106 a0003c0003t0001g0107 a0003c0003t0001g0108 a0003c0003t0001g0109 a0003c0003t0001g0110 a0003c0003t0001g0111 a0003c0003t0001g0112 a0003c0003t0001g0113 a0003c0003t0001g0114 a0003c0003t0001g0115 a0003c0003t0001g0116 a0003c0003t0001g0117 a0003c0003t0001g0118 a0003c0003t0001g0119 a0003c0003t0001g0120 a0003c0003t0001g0121 a0003c0003t0001g0122 a0003c0003t0001g0123 a0003c0003t0001g0124 a0003c0003t0001g0125 a0003c0003t0001g0126 a0003c0003t0001g0127 a0003c0003t0001g0128 a0003c0003t0001g0130 a0003c0003t0001g0131 a0003c0003t0001g0133 a0003c0003t0001g0134 a0003c0003t0001g0135 a0003c0003t0001g0138 a0003c0003t0001g0139 a0003c0003t0001g0141 a0003c0003t0001g0143 a0003c0003t0001g0144 a0003c0003t0001g0147 a0003c0003t0001g0148 a0003c0003t0001g0288 a0003c0003t0001g0289 a0003c0003t0011g0003 a0003c0003t0011g0136 a0003c0003t0011g0137 a0003c0003t0012g0103 a0003c0003t0012g0129 a0003c0003t0017g0146 a0003c0003t0023g0010 a0003c0003t0037g0132 a0003c0003t0039g0322 a0003c0013t0001g0105 a0003c0015t0001g0145 a0005c0007t0021g0140 a0005c0007t0033g0142	65	382	0.1702	-14	c.597 others(31): Show c.597+3677_597+3690delGAGAGAGAGAGAGA		DZIP1	ENSG00000134874.18	transcript	ENST00000376829.7	protein_coding	5/22						chr13	TogoVar
DZIP3_chr3_108584722_108699840	108619060	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0005 a0004c0005t0005	a0004c0005t0005g0018 a0004c0005t0005g0018	1	318	0.0031	-14	c.375 others(31): Show c.375+2416_375+2429delAAAAAAAAAAAAAA		DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	5/32					INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108653505	GTGTATAT others(7): Show GTGTATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02886.hp2 HG02717.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0055 a0001c0001t0001g0056	2	318	0.0063	-14	c.203 others(31): Show c.2034-638_2034-625delGTATATATATATAT		DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	18/32					INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108653507	GTATATAT others(7): Show GTATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03098.hp1 HG02559.hp1 HG03098.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0220 a0003c0006t0002g0221 a0003c0006t0002g0220 a0003c0006t0002g0221	2	318	0.0063	-14	c.203 others(31): Show c.2034-616_2034-603delATATATATATATAT		DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	18/32					INFO_REALIGN_3_PRIME	chr3	TogoVar
E2F3_chr6_20396879_20498714	20472025	AACACACA others(7): Show AACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0195 a0001c0001t0002g0195	1	336	0.0030	-14	c.394 others(31): Show c.394-7790_394-7777delACACACACACACAC		E2F3	ENSG00000112242.16	transcript	ENST00000346618.8	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr6	TogoVar
E2F5_chr8_85172154_85219518	85180511	CATATATA others(7): Show CATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01099.hp1 HG02015.hp1 others(14): Show HG00438.hp2 HG01099.hp1 HG02015.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02976.hp1 HG02976.hp2 HG03516.hp2 HG03831.hp1 HG04204.hp2 NA18978.hp2 NA18980.hp2 NA18998.hp2 NA19012.hp1 NA19043.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0003	a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 others(13): Show a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0284 a0001c0001t0002g0062 a0001c0002t0001g0008 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0273 a0001c0002t0001g0275 a0001c0002t0003g0008 a0001c0002t0003g0274	17	336	0.0506	-14	c.234 others(31): Show c.234+2888_234+2901delATATATATATATAT		E2F5	ENSG00000133740.11	transcript	ENST00000416274.7	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr8	TogoVar
E2F7_chr12_77016251_77070569	77068789	GTATATAT others(7): Show GTATATATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp2 HG02647.hp1 HG03710.hp2 others(2): Show HG02523.hp2 HG02647.hp1 HG03710.hp2 NA19043.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0002 a0001c0004t0001 a0001c0001t0001 a0001c0002t0002 a0001c0004t0001	a0001c0001t0001g0047 a0001c0001t0001g0170 a0001c0001t0001g0251 others(2): Show a0001c0001t0001g0047 a0001c0001t0001g0170 a0001c0001t0001g0251 a0001c0002t0002g0247 a0001c0004t0001g0245	5	394	0.0127	-14	c.-34 others(25): Show c.-3459_-3446delTATATATATATATA		E2F7	ENSG00000165891.16	transcript	ENST00000322886.12	protein_coding					3221		chr12	TogoVar
E4F1_chr16_2218591_2240742	2219323	TTATTTTT others(7): Show TTATTTTTATTTTTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	392	0.0026	-14	c.-42 others(25): Show c.-4290_-4277delTATTTTTATTTTTA		E4F1	ENSG00000167967.16	transcript	ENST00000301727.9	protein_coding					4267		chr16	TogoVar
EAF2_chr3_121830209_121891526	121840495	AAAAAAAA others(7): Show AAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01261.hp1 HG02055.hp1 others(2): Show HG00280.hp1 HG01261.hp1 HG02055.hp1 HG02630.hp2 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0089 others(2): Show a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091	5	318	0.0157	-14	c.107 others(31): Show c.107-3945_107-3932delAGAAAAAAAAAAAA		EAF2	ENSG00000145088.9	transcript	ENST00000273668.7	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr3	TogoVar
EAF2_chr3_121830209_121891526	121841504	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0185 a0001c0008t0001g0185	1	318	0.0031	-14	c.107 others(31): Show c.107-2923_107-2910delAAAAAAAAAAAAAA		EAF2	ENSG00000145088.9	transcript	ENST00000273668.7	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr3	TogoVar
EAPP_chr14_34510938_34544701	34531837	GAGGCCGA others(7): Show GAGGCCGAGGTGGGT	G G	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	360	0.0028	-14	c.352 others(31): Show c.352+1593_352+1606delACCCACCTCGGCCT		EAPP	ENSG00000129518.10	transcript	ENST00000250454.8	protein_coding	3/5						chr14	TogoVar
EAPP_chr14_34510938_34544701	34544073	ATATGTGT others(7): Show ATATGTGTGTGTGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01346.hp2 HG01358.hp2 others(9): Show HG01070.hp1 HG01346.hp2 HG01358.hp2 HG02135.hp2 HG02257.hp2 HG02258.hp1 HG02698.hp2 HG02922.hp2 HG03195.hp2 HG03225.hp1 NA19006.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0152 a0001c0002t0001g0016 a0001c0002t0001g0059 others(8): Show a0001c0001t0001g0152 a0001c0002t0001g0016 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0141 a0001c0002t0001g0145 a0001c0002t0001g0150 a0001c0002t0001g0153 a0001c0002t0001g0167 a0001c0002t0001g0175	12	360	0.0333	-14	c.-44 others(25): Show c.-4459_-4446delCACACACACACATA		EAPP	ENSG00000129518.10	transcript	ENST00000250454.8	protein_coding					4373		chr14	TogoVar
EBF1_chr5_158690920_159104916	158840659	TTTTTTTT others(7): Show TTTTTTTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01070.hp1 HG01074.hp2 others(13): Show HG00639.hp1 HG01070.hp1 HG01074.hp2 HG01257.hp2 HG01261.hp1 HG01346.hp2 HG02273.hp2 HG02523.hp2 HG03239.hp1 NA18942.hp1 NA18963.hp1 NA18966.hp2 NA18969.hp2 NA19079.hp2 NA19084.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0002t0003 others(9): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0009 a0001c0002t0012 a0001c0002t0013 a0001c0002t0035 a0001c0002t0038 a0001c0002t0084	a0001c0001t0002g0150 a0001c0002t0001g0109 a0001c0002t0001g0138 others(13): Show a0001c0001t0002g0150 a0001c0002t0001g0109 a0001c0002t0001g0138 a0001c0002t0001g0161 a0001c0002t0003g0090 a0001c0002t0003g0151 a0001c0002t0005g0122 a0001c0002t0006g0015 a0001c0002t0006g0025 a0001c0002t0007g0076 a0001c0002t0009g0079 a0001c0002t0012g0023 a0001c0002t0013g0001 a0001c0002t0035g0016 a0001c0002t0038g0014 a0001c0002t0084g0111	16	196	0.0816	-14	c.555 others(29): Show c.555-563_555-550delCAAAAAAAAAAAAA		EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	6/15						chr5	TogoVar
EBF1_chr5_158690920_159104916	158866833	GTATATAT others(7): Show GTATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp1 HG02922.hp1 others(3): Show HG00323.hp1 HG00642.hp1 HG02922.hp1 HG03139.hp2 HG03579.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0004 a0001c0001t0011 a0001c0001t0025 others(2): Show a0001c0001t0004 a0001c0001t0011 a0001c0001t0025 a0001c0002t0003 a0002c0003t0080	a0001c0001t0004g0153 a0001c0001t0011g0120 a0001c0001t0025g0177 others(3): Show a0001c0001t0004g0153 a0001c0001t0011g0120 a0001c0001t0025g0177 a0001c0001t0025g0178 a0001c0002t0003g0110 a0002c0003t0080g0179	6	196	0.0306	-14	c.555 others(33): Show c.555-26737_555-26724delTATATATATATATA		EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	6/15						chr5	TogoVar
EBF1_chr5_158690920_159104916	158877133	TCCCACAG others(7): Show TCCCACAGTTCCAAG	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02257.hp2 HG01109.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0031 a0001c0001t0021 a0001c0001t0031	a0001c0001t0021g0117 a0001c0001t0031g0007 a0001c0001t0021g0117 a0001c0001t0031g0007	2	196	0.0102	-14	c.555 others(33): Show c.555-37037_555-37024delCTTGGAACTGTGGG		EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	6/15						chr5	TogoVar
EBF1_chr5_158690920_159104916	158909956	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0093 a0001c0001t0093	a0001c0001t0093g0195 a0001c0001t0093g0195	1	196	0.0051	-14	c.555 others(33): Show c.555-69860_555-69847delTTTTTTTTTTTTTT		EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	6/15						chr5	TogoVar
EBF1_chr5_158690920_159104916	158956028	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0043 a0001c0001t0050g0043	1	196	0.0051	-14	c.555 others(35): Show c.555-115932_555-115919delCACACACACACACA		EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	6/15						chr5	TogoVar
EBF1_chr5_158690920_159104916	159060933	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02717.hp1 HG02723.hp2 others(3): Show HG02559.hp2 HG02717.hp1 HG02723.hp2 HG03453.hp2 HG03486.hp2 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0058 a0001c0001t0077 a0001c0001t0079 others(3): Show a0001c0001t0058 a0001c0001t0077 a0001c0001t0079 a0001c0001t0088 a0001c0002t0062 a0002c0003t0046	a0001c0001t0058g0051 a0001c0001t0077g0088 a0001c0001t0079g0149 others(3): Show a0001c0001t0058g0051 a0001c0001t0077g0088 a0001c0001t0079g0149 a0001c0001t0088g0190 a0001c0002t0062g0054 a0002c0003t0046g0033	6	196	0.0306	-14	c.554 others(33): Show c.554+12449_554+12462delGTGTGTGTGTGTGT		EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	6/15						chr5	TogoVar
EBF1_chr5_158690920_159104916	159087339	CACACATA others(7): Show CACACATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0073 a0001c0001t0073	a0001c0001t0073g0068 a0001c0001t0073g0068	1	196	0.0051	-14	c.412 others(31): Show c.412-2614_412-2601delATATATATATGTGT		EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	4/15						chr5	TogoVar
EBF2_chr8_25836725_26050413	25838188	GCTCTCTC others(7): Show GCTCTCTCTCTCTCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG01081.hp2 HG01168.hp2 others(21): Show HG00099.hp1 HG01081.hp2 HG01168.hp2 HG01175.hp1 HG01255.hp2 HG02055.hp2 HG02074.hp1 HG02145.hp2 HG02258.hp1 HG02572.hp2 HG02647.hp1 HG02698.hp1 HG02723.hp2 HG02896.hp1 HG02897.hp1 HG03579.hp2 HG06807.hp2 NA18747.hp1 NA18906.hp2 NA18953.hp1 NA19043.hp1 NA19063.hp2 NA19240.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0002t0003 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0003 a0001c0004t0001 a0002c0003t0001 a0002c0003t0005 a0002c0003t0007 a0002c0003t0035	a0001c0001t0001g0039 a0001c0001t0001g0080 a0001c0001t0001g0106 others(21): Show a0001c0001t0001g0039 a0001c0001t0001g0080 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0119 a0001c0001t0003g0168 a0001c0001t0003g0180 a0001c0001t0003g0188 a0001c0001t0003g0201 a0001c0001t0003g0207 a0001c0002t0003g0184 a0001c0004t0001g0128 a0002c0003t0001g0051 a0002c0003t0005g0054 a0002c0003t0005g0063 a0002c0003t0005g0064 a0002c0003t0005g0104 a0002c0003t0005g0105 a0002c0003t0005g0145 a0002c0003t0007g0205 a0002c0003t0007g0206 a0002c0003t0007g0210 a0002c0003t0007g0213 a0002c0003t0035g0157	24	220	0.1091	-14	c.64 others(25): Show c.6407_*6420delAGAGAGAGAGAGAG		EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding					3536		chr8	TogoVar
EBF2_chr8_25836725_26050413	25934224	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03139.hp1 HG03516.hp1 others(2): Show HG01891.hp2 HG03139.hp1 HG03516.hp1 HG03579.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 a0001c0001 a0001c0004 a0002c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0042 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0042 a0001c0004t0008 a0002c0003t0007	a0001c0001t0002g0147 a0001c0001t0003g0200 a0001c0001t0042g0220 others(2): Show a0001c0001t0002g0147 a0001c0001t0003g0200 a0001c0001t0042g0220 a0001c0004t0008g0156 a0002c0003t0007g0213	5	220	0.0227	-14	c.552 others(33): Show c.552-25683_552-25670delGTGTGTGTGTGTGT		EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15						chr8	TogoVar
EBF3_chr10_129830233_129969274	129846108	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02965.hp2 HG01261.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0149 a0001c0001t0003g0284 a0001c0001t0003g0149 a0001c0001t0003g0284	2	338	0.0059	-14	c.112 others(33): Show c.1128+2270_1128+2283delCACACACACACACA		EBF3	ENSG00000108001.16	transcript	ENST00000440978.2	protein_coding	11/16						chr10	TogoVar
EBF3_chr10_129830233_129969274	129890013	GCCCCATT others(7): Show GCCCCATTAATTGTT	G G	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	338	0.0030	-14	c.555 others(33): Show c.555-12178_555-12165delAACAATTAATGGGG		EBF3	ENSG00000108001.16	transcript	ENST00000440978.2	protein_coding	6/16						chr10	TogoVar
EBF4_chr20_2687780_2765108	2705785	CCACACAC others(7): Show CCACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02559.hp2 HG03239.hp2 HG01496.hp2 HG02559.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0293 a0001c0001t0001g0297 a0001c0003t0001g0369 a0001c0001t0001g0293 a0001c0001t0001g0297 a0001c0003t0001g0369	3	388	0.0077	-14	c.294 others(28): Show c.294+92_294+105delACACACACACACAC		EBF4	ENSG00000088881.22	transcript	ENST00000609451.6	protein_coding	2/16					INFO_REALIGN_3_PRIME	chr20	TogoVar
EBF4_chr20_2687780_2765108	2764996	GTTTCTCG others(7): Show GTTTCTCGTATGCTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0237 a0001c0004t0003g0237	1	388	0.0026	-14	c.57 others(25): Show c.5735_*5748delTTTCTCGTATGCTT		EBF4	ENSG00000088881.22	transcript	ENST00000609451.6	protein_coding					4889		chr20	TogoVar
EBI3_chr19_4224523_4242528	4232237	AAAAAAAA others(7): Show AAAAAAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02809.hp1 HG02922.hp1 others(1): Show HG02723.hp1 HG02809.hp1 HG02922.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0236 a0001c0001t0001g0024 a0001c0001t0001g0236	4	438	0.0091	-14	c.201 others(29): Show c.201-887_201-874delAAAAGAAAAGAAAA		EBI3	ENSG00000105246.6	transcript	ENST00000221847.6	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr19	TogoVar
EBLN1_chr10_22203475_22223015	22209596	CAGTGAAG others(7): Show CAGTGAAGGTAGGCA	C C	frameshift_variant frameshift_variant	HIGH	HG01167.hp2 HG01167.hp2	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0002 a0009c0011t0002	a0009c0011t0002g0062 a0009c0011t0002g0062	1	432	0.0023	-14	c.374 others(21): Show c.374_387delTGCCTACCTTCACT	p.Leu others(5): Show p.Leu125fs	EBLN1	ENSG00000223601.3	transcript	ENST00000422359.3	protein_coding	3/3	655/1777	374/1101	125/366			chr10	TogoVar
EBLN1_chr10_22203475_22223015	22209726	GAATATAA others(7): Show GAATATAAAACACAA	G G	frameshift_variant frameshift_variant	HIGH	HG01167.hp2 HG01167.hp2	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0002 a0009c0011t0002	a0009c0011t0002g0062 a0009c0011t0002g0062	1	432	0.0023	-14	c.244 others(21): Show c.244_257delTTGTGTTTTATATT	p.Leu others(4): Show p.Leu82fs	EBLN1	ENSG00000223601.3	transcript	ENST00000422359.3	protein_coding	3/3	525/1777	244/1101	82/366			chr10	TogoVar
EBPL_chr13_49655674_49696486	49671983	CCCTTCTT others(7): Show CCCTTCTTCAAGAAA	C C	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	410	0.0024	-14	c.172 others(31): Show c.172-2151_172-2138delTTTCTTGAAGAAGG		EBPL	ENSG00000123179.14	transcript	ENST00000242827.11	protein_coding	1/3						chr13	TogoVar
ECE1_chr1_21212250_21295463	21273338	CGTGTGTG others(7): Show CGTGTGTGCGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0016 a0001c0002t0011g0016	1	304	0.0033	-14	c.281 others(29): Show c.281-441_281-428delACACACGCACACAC		ECE1	ENSG00000117298.16	transcript	ENST00000374893.11	protein_coding	3/18						chr1	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)