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
ECSCR_chr5_139443560_139467743	139446465	TTTTCTTT others(17): Show TTTTCTTTCTTTCTTTCTTTCTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG00741.hp1 HG01192.hp1 others(10): Show HG00673.hp2 HG00741.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG02257.hp1 HG02258.hp2 HG02723.hp2 HG03195.hp1 HG03831.hp2 NA19062.hp2 NA19081.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0047 a0001c0001t0001g0061 a0001c0001t0001g0138 a0001c0001t0001g0139	13	369	0.0352	-24	c.24 others(35): Show c.2411_*2434delGAAAGAAAGAAAGAAAGAAAGAAA	ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding		2094		chr5	TogoVar
EDARADD_chr1_236389286_236489930	236405862	CTTCCTTC others(17): Show CTTCCTTCCTTCCTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	294	0.0034	-24	c.62- others(39): Show c.62-3350_62-3327delCTTCCTTCCTTCTTTCTTTCTTTC	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EDARADD_chr1_236389286_236489930	236405866	CTTCCTTC others(17): Show CTTCCTTCCTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02698.hp1 NA18967.hp1 HG02698.hp1 NA18967.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0002 a0002c0002t0003 a0001c0003t0002 a0002c0002t0003	a0001c0003t0002g0038 a0002c0002t0003g0265 a0001c0003t0002g0038 a0002c0002t0003g0265	2	294	0.0068	-24	c.62- others(39): Show c.62-3346_62-3323delCTTCCTTCTTTCTTTCTTTCTTTC	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EDARADD_chr1_236389286_236489930	236405874	CTTCTTTC others(17): Show CTTCTTTCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA18906.hp1 HG02965.hp1 NA18906.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0006 a0002c0002t0002 a0002c0002t0006	a0002c0002t0002g0250 a0002c0002t0006g0229 a0002c0002t0002g0250 a0002c0002t0006g0229	2	294	0.0068	-24	c.62- others(39): Show c.62-3313_62-3290delTTCTTTCTTTCTTTCTTTCTTTCT	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EDARADD_chr1_236389286_236489930	236447166	CTCCCTCT others(17): Show CTCCCTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG00642.hp2 others(22): Show HG00280.hp1 HG00423.hp1 HG00642.hp2 HG00738.hp2 HG01255.hp2 HG01361.hp2 HG01516.hp1 HG01975.hp1 HG01975.hp2 HG02300.hp2 HG03239.hp1 HG03654.hp1 HG04115.hp2 NA18939.hp1 NA18970.hp1 NA18975.hp2 NA18980.hp2 NA18981.hp2 NA18995.hp2 NA19009.hp2 NA19054.hp1 NA19063.hp1 NA19082.hp1 NA19089.hp2 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0008 a0002c0002 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0004t0005 a0001c0008t0001 a0002c0002t0001 a0002c0002t0003 a0002c0007t0023	a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0106 others(22): Show a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0106 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0193 a0001c0001t0002g0096 a0001c0001t0002g0105 a0001c0001t0002g0185 a0001c0001t0003g0189 a0001c0001t0003g0194 a0001c0001t0004g0091 a0001c0001t0009g0101 a0001c0001t0009g0107 a0001c0003t0001g0037 a0001c0003t0002g0007 a0001c0003t0004g0036 a0001c0004t0005g0044 a0001c0004t0005g0092 a0001c0004t0005g0202 a0001c0008t0001g0195 a0002c0002t0001g0223 a0002c0002t0003g0264 a0002c0002t0003g0271 a0002c0007t0023g0272	25	294	0.0850	-24	c.219 others(43): Show c.219+19719_219+19742delCCTCTTTCTTTCTTTCTTTCTTTC	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EDARADD_chr1_236389286_236489930	236480096	CATATATA others(17): Show CATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00642.hp1 others(36): Show HG00140.hp1 HG00280.hp1 HG00642.hp1 HG00738.hp2 HG01070.hp1 HG01109.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01358.hp1 HG01496.hp1 HG01978.hp1 HG02109.hp2 HG02165.hp2 HG02273.hp1 HG02300.hp2 HG02602.hp2 HG02698.hp1 HG02738.hp2 HG03017.hp2 HG03098.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp2 HG03669.hp1 HG03688.hp2 HG03831.hp2 HG04184.hp2 HG04199.hp1 NA18906.hp1 NA18939.hp2 NA18960.hp2 NA18980.hp2 NA18981.hp2 NA19005.hp2 NA19080.hp2 NA20129.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 others(8): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0024 a0001c0003t0003 a0001c0003t0009 a0002c0002t0002 a0002c0002t0003 a0002c0002t0011 a0002c0002t0018 a0002c0002t0019	a0001c0001t0002g0115 a0001c0001t0002g0156 a0001c0001t0003g0052 others(36): Show a0001c0001t0002g0115 a0001c0001t0002g0156 a0001c0001t0003g0052 a0001c0001t0003g0102 a0001c0001t0003g0124 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0130 a0001c0001t0003g0178 a0001c0001t0003g0180 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0189 a0001c0001t0003g0192 a0001c0001t0003g0194 a0001c0001t0003g0200 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0219 a0001c0001t0009g0101 a0001c0001t0009g0107 a0001c0001t0024g0120 a0001c0003t0003g0022 a0001c0003t0003g0029 a0001c0003t0003g0030 a0001c0003t0009g0021 a0001c0003t0009g0043 a0002c0002t0002g0222 a0002c0002t0002g0250 a0002c0002t0003g0252 a0002c0002t0003g0253 a0002c0002t0003g0264 a0002c0002t0003g0265 a0002c0002t0003g0266 a0002c0002t0003g0267 a0002c0002t0003g0271 a0002c0002t0011g0277 a0002c0002t0018g0241 a0002c0002t0019g0231	39	294	0.1327	-24	c.266 others(41): Show c.266-2154_266-2131delATATATATATATATATATATATAT	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EDA_chrX_69611113_70044472	69612316	ATTTTATT others(17): Show ATTTTATTTTATTTTATTTTATTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0031 a0001c0002t0001g0031	1	226	0.0044	-24	c.-39 others(35): Show c.-3992_-3969delTTTTATTTTATTTTATTTTATTTT	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding		3796		chrX	TogoVar
EDA_chrX_69611113_70044472	69849082	TACACACA others(17): Show TACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0100 a0001c0001t0022g0100	1	226	0.0044	-24	c.397 others(45): Show c.397-107917_397-107894delCACACACACACACACACACACACA	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
EDEM3_chr1_184685237_184759858	184744249	AATATATA others(17): Show AATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00621.hp2 HG00639.hp1 others(19): Show HG00140.hp1 HG00621.hp2 HG00639.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01081.hp2 HG01106.hp2 HG01891.hp1 HG02809.hp2 HG03098.hp2 HG03195.hp2 HG06807.hp2 NA18955.hp1 NA18961.hp2 NA18963.hp2 NA18983.hp1 NA19001.hp2 NA19030.hp1 NA19043.hp2 NA19068.hp1 NA21309.hp2	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0004 a0004c0006 a0007c0009 a0001c0004 a0004c0006 a0007c0009	a0001c0004t0004 a0001c0004t0025 a0004c0006t0014 others(1): Show a0001c0004t0004 a0001c0004t0025 a0004c0006t0014 a0007c0009t0024	a0001c0004t0004g0023 a0001c0004t0004g0262 a0001c0004t0004g0263 others(18): Show a0001c0004t0004g0023 a0001c0004t0004g0262 a0001c0004t0004g0263 a0001c0004t0004g0264 a0001c0004t0004g0265 a0001c0004t0004g0266 a0001c0004t0004g0267 a0001c0004t0004g0268 a0001c0004t0004g0269 a0001c0004t0004g0271 a0001c0004t0004g0272 a0001c0004t0004g0273 a0001c0004t0004g0274 a0001c0004t0004g0276 a0001c0004t0004g0277 a0001c0004t0004g0278 a0001c0004t0025g0275 a0004c0006t0014g0283 a0004c0006t0014g0284 a0004c0006t0014g0285 a0007c0009t0024g0270	22	324	0.0679	-24	c.204 others(41): Show c.204+5274_204+5297delATATATATATATATATATATATAT	EDEM3	ENSG00000116406.20	transcript	ENST00000318130.13	protein_coding	2/19			chr1	TogoVar
EDIL3_chr5_83935554_84389880	83970643	GTATATAT others(17): Show GTATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA18747.hp2 NA19083.hp1 HG00438.hp2 NA18747.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0009 a0001c0002t0001 a0001c0001t0001 a0001c0001t0009 a0001c0002t0001	a0001c0001t0001g0088 a0001c0001t0009g0016 a0001c0002t0001g0129 a0001c0001t0001g0088 a0001c0001t0009g0016 a0001c0002t0001g0129	3	158	0.0190	-24	c.113 others(43): Show c.1138-7307_1138-7284delTATATATATATATATATATATATA	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	9/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	83990879	CAATAAAT others(17): Show CAATAAATAAATAAATAAATAAATA	C C	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0084 a0001c0001t0002g0084	1	158	0.0063	-24	c.113 others(45): Show c.1138-27543_1138-27520delTATTTATTTATTTATTTATTTATT	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	9/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84141906	CATATATA others(17): Show CATATATATATATATATACACATAT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02922.hp1 HG02965.hp1 HG02145.hp1 HG02922.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0004 a0001c0002t0001 a0001c0004t0003 a0001c0001t0004 a0001c0002t0001 a0001c0004t0003	a0001c0001t0004g0124 a0001c0002t0001g0143 a0001c0004t0003g0054 a0001c0001t0004g0124 a0001c0002t0001g0143 a0001c0004t0003g0054	3	158	0.0190	-24	c.356 others(41): Show c.356-4576_356-4553delATATGTGTATATATATATATATAT	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	4/10			chr5	TogoVar
EEF2K_chr16_22201278_22293738	22244269	TTGTGTGT others(17): Show TTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0212 a0001c0002t0002g0212	1	290	0.0035	-24	c.247 others(39): Show c.247-343_247-320delGTGTGTGTGTGTGTGTGTGTGTGT	EEF2K	ENSG00000103319.12	transcript	ENST00000263026.10	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
EEIG1_chr9_127935582_127985989	127965106	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0047 a0001c0001t0015g0047	1	342	0.0029	-24	c.147 others(43): Show c.147-11205_147-11182delTTTTTTTTTTTTTTTTTTTTTTTT	EEIG1	ENSG00000167106.12	transcript	ENST00000373095.6	protein_coding	1/10			chr9	TogoVar
EEIG2_chr1_108555100_108644322	108601263	TGTGTGTG others(17): Show TGTGTGTGTGTGTATGTGTTTGTGC	T T	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	272	0.0037	-24	c.258 others(39): Show c.258+593_258+616delTGTTTGTGCGTGTGTGTGTGTATG	EEIG2	ENSG00000162636.16	transcript	ENST00000370035.8	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
EFCAB11_chr14_89789669_89959730	89904068	GCTGCACC others(17): Show GCTGCACCCATCAACTCGTCATTTA	G G	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03669.hp1 HG04204.hp1 HG03017.hp2 HG03669.hp1 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0024 a0001c0002t0042 a0001c0002t0003 a0001c0002t0024 a0001c0002t0042	a0001c0002t0003g0189 a0001c0002t0024g0190 a0001c0002t0042g0227 a0001c0002t0003g0189 a0001c0002t0024g0190 a0001c0002t0042g0227	3	284	0.0106	-24	c.410 others(43): Show c.410+27449_410+27472delTAAATGACGAGTTGATGGGTGCAG	EFCAB11	ENSG00000140025.16	transcript	ENST00000316738.12	protein_coding	5/5			chr14	TogoVar
EFCAB12_chr3_129396321_129433636	129412428	GGATAGAT others(17): Show GGATAGATAGATAGATAGATAGATA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02055.hp1 HG02145.hp1 others(6): Show HG01109.hp2 HG02055.hp1 HG02145.hp1 HG02647.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03471.hp2 NA19030.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0010 a0001c0001 a0009c0010	a0001c0001t0001 a0009c0010t0001 a0001c0001t0001 a0009c0010t0001	a0001c0001t0001g0101 a0001c0001t0001g0108 a0001c0001t0001g0153 others(6): Show a0001c0001t0001g0101 a0001c0001t0001g0108 a0001c0001t0001g0153 a0001c0001t0001g0158 a0009c0010t0001g0107 a0009c0010t0001g0152 a0009c0010t0001g0154 a0009c0010t0001g0155 a0009c0010t0001g0157	9	386	0.0233	-24	c.839 others(41): Show c.839-1098_839-1075delTATCTATCTATCTATCTATCTATC	EFCAB12	ENSG00000172771.13	transcript	ENST00000505956.6	protein_coding	4/8			chr3	TogoVar
EFCAB13_chr17_47318955_47446312	47325923	AATATATA others(17): Show AATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01243.hp2 HG02809.hp2 others(3): Show HG01106.hp1 HG01243.hp2 HG02809.hp2 HG03041.hp2 NA18522.hp1 NA20129.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0004 a0003c0008t0001 a0003c0008t0004	a0003c0008t0001g0006 a0003c0008t0004g0005 a0003c0008t0004g0011 others(3): Show a0003c0008t0001g0006 a0003c0008t0004g0005 a0003c0008t0004g0011 a0003c0008t0004g0012 a0003c0008t0004g0053 a0003c0008t0004g0258	6	356	0.0169	-24	c.-24 others(41): Show c.-247-287_-247-264delTATATATATATATATATATATATA	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB14_chr1_46670159_46724114	46720489	AAAATAAA others(17): Show AAAATAAATAAATAAATAAATAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG03490.hp1 HG01256.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0168 a0001c0001t0003g0169	2	374	0.0054	-24	c.-24 others(35): Show c.-2426_-2403delATTTATTTATTTATTTATTTATTT	EFCAB14	ENSG00000159658.15	transcript	ENST00000371933.8	protein_coding		1376		chr1	TogoVar
EFCAB2_chr1_244964682_245092837	244992564	CCCTGTCT others(17): Show CCCTGTCTCTACTAAAAATACAAAA	C C	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	290	0.0035	-24	c.25+ others(41): Show c.25+22122_25+22145delCCTGTCTCTACTAAAAATACAAAA	EFCAB2	ENSG00000203666.13	transcript	ENST00000366523.6	protein_coding	2/7			chr1	TogoVar
EFCAB3_chr17_62375553_62421480	62411882	AAGGAAGG others(17): Show AAGGAAGGAAGGAAGGAAGGAAGGG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp1 HG00642.hp1 others(63): Show HG00438.hp1 HG00597.hp1 HG00642.hp1 HG00738.hp2 HG00741.hp1 HG01074.hp1 HG01099.hp2 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01358.hp2 HG01884.hp1 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01993.hp1 HG02027.hp2 HG02055.hp1 HG02074.hp2 HG02132.hp1 HG02155.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp2 HG02683.hp1 HG02723.hp1 HG02723.hp2 HG02886.hp2 HG02896.hp1 HG02922.hp1 HG02970.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03942.hp1 HG04228.hp1 NA18906.hp1 NA18941.hp1 NA18950.hp2 NA18952.hp2 NA18970.hp1 NA18973.hp2 NA18974.hp2 NA18977.hp2 NA18978.hp2 NA18992.hp2 NA19009.hp2 NA19043.hp1 NA19058.hp2 NA19079.hp1 NA19082.hp2 NA19085.hp2 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0001c0001t0001 a0001c0003t0001 a0002c0002t0001	a0001c0001t0001g0013 a0001c0001t0001g0051 a0001c0001t0001g0052 others(46): Show a0001c0001t0001g0013 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0189 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0003t0001g0024 a0002c0002t0001g0006 a0002c0002t0001g0008 a0002c0002t0001g0023 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0046 a0002c0002t0001g0226 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0236 a0002c0002t0001g0237 a0002c0002t0001g0238 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0242 a0002c0002t0001g0243 a0002c0002t0001g0247 a0002c0002t0001g0248 a0002c0002t0001g0249	66	368	0.1794	-24	c.868 others(41): Show c.868-1846_868-1823delAAGGAAGGAAGGAAGGAAGGGAGG	EFCAB3	ENSG00000172421.10	transcript	ENST00000305286.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB5_chr17_29936634_30113452	30026961	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01993.hp1 HG02630.hp1 HG00323.hp1 HG01993.hp1 HG02630.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0022 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0022 a0002c0002t0002g0023 a0002c0002t0002g0024	3	248	0.0121	-24	c.104 others(43): Show c.1045-7249_1045-7226delTTTTTTTTTTTTTTTTTTTTTTTT	EFCAB5	ENSG00000176927.16	transcript	ENST00000394835.8	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB5_chr17_29936634_30113452	30096983	TATATACA others(17): Show TATATACATATACATATACATATAC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	248	0.0040	-24	c.432 others(43): Show c.4321+4095_4321+4118delCATATACATATACATATACATATA	EFCAB5	ENSG00000176927.16	transcript	ENST00000394835.8	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB6_chr22_43523778_43817305	43524509	CGTGTGTG others(17): Show CGTGTGTGTGTGTGTGTGTGTGTGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp2 NA18946.hp1 NA18947.hp2 others(4): Show NA18944.hp2 NA18946.hp1 NA18947.hp2 NA18983.hp2 NA18984.hp2 NA19070.hp1 NA19091.hp1	a0005 a0005	a0005c0004 a0005c0020 a0005c0004 a0005c0020	a0005c0004t0001 a0005c0020t0001 a0005c0004t0001 a0005c0020t0001	a0005c0004t0001g0103 a0005c0004t0001g0104 a0005c0004t0001g0105 others(4): Show a0005c0004t0001g0103 a0005c0004t0001g0104 a0005c0004t0001g0105 a0005c0004t0001g0106 a0005c0004t0001g0109 a0005c0004t0001g0110 a0005c0020t0001g0169	7	290	0.0241	-24	c.43 others(35): Show c.4320_*4343delACACACACACACACACACACACAC	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding		4268		chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43599509	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01243.hp2 HG01346.hp1 others(13): Show HG00323.hp2 HG01243.hp2 HG01346.hp1 HG01515.hp2 HG01517.hp2 HG02004.hp1 HG02257.hp2 HG02293.hp1 HG02300.hp1 HG02922.hp1 HG02970.hp1 HG03098.hp1 HG03453.hp1 HG03486.hp2 NA18954.hp1 NA20805.hp2	a0006 a0032 a0006 a0032	a0006c0006 a0032c0042 a0006c0006 a0032c0042	a0006c0006t0001 a0032c0042t0001 a0006c0006t0001 a0032c0042t0001	a0006c0006t0001g0163 a0006c0006t0001g0257 a0006c0006t0001g0265 others(13): Show a0006c0006t0001g0163 a0006c0006t0001g0257 a0006c0006t0001g0265 a0006c0006t0001g0267 a0006c0006t0001g0268 a0006c0006t0001g0269 a0006c0006t0001g0270 a0006c0006t0001g0271 a0006c0006t0001g0272 a0006c0006t0001g0273 a0006c0006t0001g0276 a0006c0006t0001g0277 a0006c0006t0001g0278 a0006c0006t0001g0279 a0006c0006t0001g0280 a0032c0042t0001g0275	16	290	0.0552	-24	c.287 others(41): Show c.2876+536_2876+559delTTTTTTTTTTTTTTTTTTTTTTTT	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	23/31			chr22	TogoVar
EFCAB7_chr1_63518525_63577693	63562445	TTATTTAT others(17): Show TTATTTATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02698.hp2 NA18989.hp1 others(2): Show HG02280.hp1 HG02698.hp2 NA18989.hp1 NA18997.hp1 NA19056.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0002 a0002c0003 a0006c0008 a0001c0002 a0002c0003 a0006c0008	a0001c0002t0001 a0002c0003t0001 a0006c0008t0001 a0001c0002t0001 a0002c0003t0001 a0006c0008t0001	a0001c0002t0001g0310 a0002c0003t0001g0273 a0002c0003t0001g0274 others(2): Show a0001c0002t0001g0310 a0002c0003t0001g0273 a0002c0003t0001g0274 a0002c0003t0001g0284 a0006c0008t0001g0212	5	374	0.0134	-24	c.149 others(41): Show c.1497+592_1497+615delTTATATATATATATATATATATAT	EFCAB7	ENSG00000203965.13	transcript	ENST00000371088.5	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
EFCAB8_chr20_32853923_32966845	32939123	TTCTCTTT others(17): Show TTCTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0017 a0017	a0017c0017 a0017c0017	a0017c0017t0007 a0017c0017t0007	a0017c0017t0007g0227 a0017c0017t0007g0227	1	284	0.0035	-24	c.279 others(43): Show c.2791-4511_2791-4488delCTCTTTCTTTCTTTCTTTCTTTCT	EFCAB8	ENSG00000215529.13	transcript	ENST00000400522.9	protein_coding	22/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
EFCAB8_chr20_32853923_32966845	32939125	CTCTTTCT others(17): Show CTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01192.hp1 others(19): Show HG01070.hp1 HG01071.hp1 HG01192.hp1 HG01361.hp1 HG02129.hp1 HG02145.hp1 HG02572.hp1 HG02602.hp2 HG02615.hp2 HG02818.hp2 HG02970.hp2 HG02976.hp2 HG03098.hp1 HG03130.hp2 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03927.hp2 HG04184.hp2 HG06807.hp2 NA18944.hp2 NA18961.hp1	a0001 a0002 a0005 others(10): Show a0001 a0002 a0005 a0006 a0007 a0008 a0009 a0013 a0017 a0018 a0021 a0026 a0040	a0001c0001 a0002c0002 a0005c0008 others(11): Show a0001c0001 a0002c0002 a0005c0008 a0005c0013 a0006c0005 a0007c0030 a0008c0007 a0009c0015 a0013c0020 a0017c0017 a0018c0026 a0021c0061 a0026c0027 a0040c0049	a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 others(12): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 a0005c0008t0001 a0005c0013t0001 a0006c0005t0003 a0007c0030t0004 a0008c0007t0003 a0009c0015t0001 a0013c0020t0003 a0017c0017t0007 a0018c0026t0003 a0021c0061t0001 a0026c0027t0003 a0040c0049t0001	a0001c0001t0001g0118 a0001c0001t0001g0159 a0002c0002t0001g0269 others(19): Show a0001c0001t0001g0118 a0001c0001t0001g0159 a0002c0002t0001g0269 a0002c0002t0001g0270 a0002c0002t0001g0271 a0002c0002t0003g0276 a0005c0008t0001g0214 a0005c0013t0001g0200 a0006c0005t0003g0076 a0006c0005t0003g0078 a0006c0005t0003g0082 a0006c0005t0003g0091 a0007c0030t0004g0127 a0008c0007t0003g0280 a0009c0015t0001g0112 a0013c0020t0003g0090 a0017c0017t0007g0217 a0017c0017t0007g0228 a0018c0026t0003g0226 a0021c0061t0001g0238 a0026c0027t0003g0126 a0040c0049t0001g0197	22	284	0.0775	-24	c.279 others(43): Show c.2791-4456_2791-4433delTTTCTTTCTTTCTTTCTTTCTTTC	EFCAB8	ENSG00000215529.13	transcript	ENST00000400522.9	protein_coding	22/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
EFCAB8_chr20_32853923_32966845	32948524	AAAAGAAA others(17): Show AAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02602.hp2 HG01261.hp2 HG02602.hp2	a0026 a0048 a0026 a0048	a0026c0027 a0048c0058 a0026c0027 a0048c0058	a0026c0027t0003 a0048c0058t0002 a0026c0027t0003 a0048c0058t0002	a0026c0027t0003g0126 a0048c0058t0002g0257 a0026c0027t0003g0126 a0048c0058t0002g0257	2	284	0.0070	-24	c.295 others(43): Show c.2959+4756_2959+4779delGAAAGAAAGAAAGAAAGAAAGAAA	EFCAB8	ENSG00000215529.13	transcript	ENST00000400522.9	protein_coding	23/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
EFHC2_chrX_44142872_44348672	44209019	CTGTGTGT others(17): Show CTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02280.hp2 HG02886.hp2 others(13): Show HG00438.hp2 HG02280.hp2 HG02886.hp2 HG03041.hp2 HG03579.hp1 NA18940.hp1 NA18945.hp1 NA18961.hp1 NA18969.hp1 NA18977.hp1 NA18981.hp2 NA19010.hp1 NA19058.hp1 NA19063.hp1 NA19080.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0006t0001	a0001c0001t0002g0038 a0001c0001t0003g0016 a0001c0001t0005g0004 others(13): Show a0001c0001t0002g0038 a0001c0001t0003g0016 a0001c0001t0005g0004 a0001c0001t0005g0039 a0001c0001t0005g0091 a0001c0001t0005g0110 a0001c0001t0005g0121 a0001c0001t0005g0169 a0001c0001t0005g0173 a0001c0001t0005g0178 a0001c0001t0005g0192 a0001c0001t0005g0212 a0001c0001t0005g0213 a0001c0001t0005g0219 a0001c0001t0006g0023 a0001c0006t0001g0029	16	221	0.0724	-24	c.175 others(45): Show c.1751+20606_1751+20629delCACACACACACACACACACACACA	EFHC2	ENSG00000183690.13	transcript	ENST00000420999.2	protein_coding	11/14			chrX	TogoVar
EFHC2_chrX_44142872_44348672	44251597	TAAAAAAA others(17): Show TAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00741.hp2 HG01070.hp1 others(39): Show HG00438.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01109.hp1 HG01256.hp1 HG01358.hp1 HG01496.hp1 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG02004.hp1 HG02074.hp1 HG02165.hp2 HG02572.hp1 HG02647.hp1 HG02735.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG02970.hp2 HG03130.hp1 HG03209.hp1 HG03225.hp1 HG03492.hp1 HG04204.hp1 NA18939.hp2 NA18990.hp1 NA18994.hp1 NA19005.hp1 NA19030.hp2 NA20129.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0006	a0001c0001 a0002c0002 a0002c0008 others(3): Show a0001c0001 a0002c0002 a0002c0008 a0003c0003 a0005c0005 a0006c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 a0002c0002t0002 a0002c0002t0004 a0002c0002t0007 a0002c0008t0004 a0003c0003t0002 a0005c0005t0001 a0006c0007t0002	a0001c0001t0001g0006 a0001c0001t0001g0024 a0001c0001t0002g0081 others(39): Show a0001c0001t0001g0006 a0001c0001t0001g0024 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0107 a0001c0001t0002g0197 a0001c0001t0007g0115 a0001c0001t0009g0158 a0001c0001t0009g0179 a0002c0002t0002g0014 a0002c0002t0002g0062 a0002c0002t0002g0077 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0090 a0002c0002t0002g0140 a0002c0002t0002g0164 a0002c0002t0002g0181 a0002c0002t0002g0201 a0002c0002t0004g0207 a0002c0002t0004g0209 a0002c0002t0007g0118 a0002c0002t0007g0155 a0002c0002t0007g0166 a0002c0002t0007g0216 a0002c0002t0007g0217 a0002c0008t0004g0055 a0003c0003t0002g0020 a0003c0003t0002g0054 a0003c0003t0002g0058 a0003c0003t0002g0059 a0003c0003t0002g0060 a0003c0003t0002g0061 a0003c0003t0002g0100 a0003c0003t0002g0109 a0003c0003t0002g0120 a0003c0003t0002g0186 a0003c0003t0002g0187 a0005c0005t0001g0144 a0006c0007t0002g0025 a0006c0007t0002g0026 a0006c0007t0002g0203	42	221	0.1901	-24	c.607 others(41): Show c.607-1176_607-1153delTTTTTTTTTTTTTTTTTTTTTTTT	EFHC2	ENSG00000183690.13	transcript	ENST00000420999.2	protein_coding	4/14			chrX	TogoVar
EFNA2_chr19_1280873_1306431	1287613	CCCTGGTC others(17): Show CCCTGGTCAACGGCCTCGGGTCGGG	C C	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0064 a0001c0001t0003g0064	1	294	0.0034	-24	c.140 others(41): Show c.140+1308_140+1331delTGGTCAACGGCCTCGGGTCGGGCC	EFNA2	ENSG00000099617.4	transcript	ENST00000215368.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
EFNA5_chr5_107371894_107675937	107482808	CTCTCTGT others(17): Show CTCTCTGTCTCTCTCTCTGTCTCTG	C C	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0169 a0001c0001t0006g0169	1	190	0.0053	-24	c.126 others(43): Show c.126-55323_126-55300delCAGAGACAGAGAGAGAGACAGAGA	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EFNA5_chr5_107371894_107675937	107482814	GTCTCTCT others(17): Show GTCTCTCTCTCTGTCTCTGTCTCTC	G G	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02965.hp1 HG02922.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0098 a0001c0001t0028 a0001c0001t0098	a0001c0001t0028g0087 a0001c0001t0098g0084 a0001c0001t0028g0087 a0001c0001t0098g0084	2	190	0.0105	-24	c.126 others(43): Show c.126-55329_126-55306delGAGAGACAGAGACAGAGAGAGAGA	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EFNA5_chr5_107371894_107675937	107660261	CATATATA others(17): Show CATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	190	0.0053	-24	c.125 others(43): Show c.125+10204_125+10227delATATATATATATATATATATATAT	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EFNB1_chrX_68824021_68847160	68838154	TGTGTGTG others(17): Show TGTGTGTGTGTGTGTGTGTGCGCGC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02280.hp1 HG02451.hp2 others(15): Show HG01884.hp1 HG02280.hp1 HG02451.hp2 HG02559.hp1 HG02615.hp1 HG02630.hp1 HG02717.hp1 HG02809.hp2 HG02818.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03139.hp1 HG03195.hp1 HG03486.hp1 NA19043.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0009 a0001c0001t0010 a0001c0001t0004 a0001c0001t0009 a0001c0001t0010	a0001c0001t0004g0004 a0001c0001t0004g0044 a0001c0001t0004g0068 others(4): Show a0001c0001t0004g0004 a0001c0001t0004g0044 a0001c0001t0004g0068 a0001c0001t0004g0144 a0001c0001t0009g0004 a0001c0001t0009g0055 a0001c0001t0010g0004	18	335	0.0537	-24	c.129 others(39): Show c.129-461_129-438delTGTGTGTGTGTGTGTGTGCGCGCG	EFNB1	ENSG00000090776.6	transcript	ENST00000204961.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
EFR3A_chr8_131899093_132018642	131949731	TTGAGCCT others(17): Show TTGAGCCTAGGAATTCAAGGCTCAG	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01243.hp2 HG01943.hp2 others(6): Show HG00639.hp1 HG01243.hp2 HG01943.hp2 HG02559.hp1 HG02572.hp1 HG02630.hp2 HG03041.hp2 HG03471.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 others(6): Show a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141	9	412	0.0218	-24	c.367 others(39): Show c.367-232_367-209delCTAGGAATTCAAGGCTCAGTGAGC	EFR3A	ENSG00000132294.15	transcript	ENST00000254624.10	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr8	TogoVar
EFR3A_chr8_131899093_132018642	132010405	GAGATATA others(17): Show GAGATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0019 a0001c0019t0019	a0001c0019t0019g0132 a0001c0019t0019g0132	1	412	0.0024	-24	c.236 others(41): Show c.2361-383_2361-360delGATATATATATATATATATATATA	EFR3A	ENSG00000132294.15	transcript	ENST00000254624.10	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr8	TogoVar
EFR3B_chr2_25037076_25164135	25124277	AGTGTGTG others(17): Show AGTGTGTGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00544.hp1 others(48): Show HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG01192.hp1 HG01243.hp2 HG01358.hp1 HG01361.hp1 HG02015.hp2 HG02132.hp2 HG02135.hp1 HG02165.hp1 HG02280.hp2 HG02451.hp1 HG02523.hp2 HG02735.hp1 HG03098.hp1 HG03490.hp1 HG03492.hp2 HG03654.hp2 HG03831.hp1 HG03834.hp2 NA18522.hp1 NA18747.hp1 NA18942.hp2 NA18943.hp1 NA18959.hp1 NA18961.hp1 NA18974.hp1 NA18975.hp1 NA18978.hp1 NA18982.hp2 NA18983.hp1 NA18986.hp1 NA18990.hp2 NA18993.hp2 NA18995.hp2 NA18999.hp1 NA19002.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19054.hp2 NA19060.hp1 NA19066.hp1 NA19070.hp1 NA19084.hp1 NA19086.hp2 NA19088.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0005 a0001c0015 others(1): Show a0001c0001 a0001c0005 a0001c0015 a0004c0007	a0001c0001t0003 a0001c0001t0008 a0001c0001t0012 others(8): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0012 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0047 a0001c0005t0014 a0001c0015t0008 a0004c0007t0003	a0001c0001t0003g0069 a0001c0001t0003g0072 a0001c0001t0003g0073 others(48): Show a0001c0001t0003g0069 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0003g0088 a0001c0001t0003g0092 a0001c0001t0003g0095 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0104 a0001c0001t0003g0106 a0001c0001t0003g0108 a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0003g0116 a0001c0001t0003g0118 a0001c0001t0003g0265 a0001c0001t0003g0296 a0001c0001t0008g0010 a0001c0001t0008g0094 a0001c0001t0008g0098 a0001c0001t0008g0107 a0001c0001t0008g0112 a0001c0001t0008g0113 a0001c0001t0008g0114 a0001c0001t0008g0121 a0001c0001t0012g0071 a0001c0001t0012g0084 a0001c0001t0012g0089 a0001c0001t0012g0093 a0001c0001t0012g0242 a0001c0001t0040g0103 a0001c0001t0041g0096 a0001c0001t0042g0075 a0001c0001t0043g0097 a0001c0001t0047g0068 a0001c0005t0014g0046 a0001c0005t0014g0212 a0001c0005t0014g0213 a0001c0005t0014g0214 a0001c0015t0008g0078 a0004c0007t0003g0070	51	306	0.1667	-24	c.485 others(41): Show c.485+2515_485+2538delTGTGTGTGTGTGTGTGTGTGTGTG	EFR3B	ENSG00000084710.14	transcript	ENST00000403714.8	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EGFL6_chrX_13564601_13638575	13577323	TATATATA others(17): Show TATATATATATATATATATACATAC	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0053 a0001c0005t0001g0053	1	302	0.0033	-24	c.74+ others(39): Show c.74+7390_74+7413delTATATATATATATATATACATACA	EGFL6	ENSG00000198759.12	transcript	ENST00000361306.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
EGFLAM_chr5_38253559_38470480	38329292	GATAAATA others(17): Show GATAAATAAATAAATAAATAAATAA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02132.hp1 HG04199.hp2 others(3): Show HG01243.hp1 HG02132.hp1 HG04199.hp2 NA18939.hp2 NA18951.hp2 NA18965.hp1	a0001 a0006 a0022 a0001 a0006 a0022	a0001c0001 a0006c0006 a0022c0025 a0001c0001 a0006c0006 a0022c0025	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0006c0006t0001 a0022c0025t0003	a0001c0001t0001g0047 a0001c0001t0002g0135 a0001c0001t0005g0154 others(3): Show a0001c0001t0001g0047 a0001c0001t0002g0135 a0001c0001t0005g0154 a0006c0006t0001g0182 a0006c0006t0001g0183 a0022c0025t0003g0021	6	190	0.0316	-24	c.98- others(39): Show c.98-8205_98-8182delAAATAAATAAATAAATAAATAAAT	EGFLAM	ENSG00000164318.18	transcript	ENST00000322350.10	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr5	TogoVar
EGF_chr4_109907883_110018766	109919287	GTCTCTCT others(17): Show GTCTCTCTCTCTCTCTCTCTCTCTC	G G	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0018 a0003c0003t0018	a0003c0003t0018g0228 a0003c0003t0018g0228	1	388	0.0026	-24	c.127 others(41): Show c.127+5856_127+5879delTCTCTCTCTCTCTCTCTCTCTCTC	EGF	ENSG00000138798.13	transcript	ENST00000265171.10	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
EGLN1_chr1_231358756_231427287	231359054	TTATATAT others(17): Show TTATATATATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG01952.hp1 HG02056.hp2 others(16): Show HG01346.hp1 HG01952.hp1 HG02056.hp2 HG02976.hp1 HG03041.hp1 HG03471.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18947.hp1 NA18947.hp2 NA18960.hp2 NA18964.hp2 NA18979.hp2 NA18998.hp1 NA19002.hp1 NA19083.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0002c0002t0002 a0002c0002t0004 a0002c0002t0029	a0001c0001t0001g0218 a0001c0001t0001g0222 a0001c0001t0001g0227 others(16): Show a0001c0001t0001g0218 a0001c0001t0001g0222 a0001c0001t0001g0227 a0001c0001t0001g0231 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0265 a0001c0001t0002g0282 a0001c0001t0002g0289 a0001c0001t0002g0299 a0001c0001t0003g0154 a0001c0001t0003g0156 a0001c0001t0009g0253 a0002c0002t0002g0120 a0002c0002t0004g0105 a0002c0002t0004g0106 a0002c0002t0004g0107 a0002c0002t0004g0111 a0002c0002t0029g0327	19	338	0.0562	-24	c.73 others(35): Show c.7333_*7356delTATATATATATATATATATATATA	EGLN1	ENSG00000135766.9	transcript	ENST00000366641.4	protein_coding		4701		chr1	TogoVar
EGLN1_chr1_231358756_231427287	231359087	TATATATA others(17): Show TATATATATATATATATATATATAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 NA18954.hp2 HG03486.hp2 NA18954.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0007 a0002c0002t0001 a0002c0002t0007	a0002c0002t0001g0052 a0002c0002t0007g0039 a0002c0002t0001g0052 a0002c0002t0007g0039	2	338	0.0059	-24	c.73 others(35): Show c.7300_*7323delTTATATATATATATATATATATAT	EGLN1	ENSG00000135766.9	transcript	ENST00000366641.4	protein_coding		4668		chr1	TogoVar
EGR4_chr2_73285929_73298548	73297905	CCTGCTCA others(17): Show CCTGCTCATGGCCCATCATTAGTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	358	0.0028	-24	c.-46 others(35): Show c.-4612_-4589delAAACTAATGATGGGCCATGAGCAG	EGR4	ENSG00000135625.8	transcript	ENST00000436467.4	protein_coding		4358		chr2	TogoVar
EHD3_chr2_31229152_31274451	31255425	TCCTCATT others(17): Show TCCTCATTCAGCTCTACCACAGACC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02486.hp2 HG02615.hp2 others(4): Show HG02055.hp1 HG02486.hp2 HG02615.hp2 HG02630.hp2 HG03139.hp2 HG03579.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0066 a0001c0001t0067 a0001c0001t0012 a0001c0001t0066 a0001c0001t0067	a0001c0001t0012g0026 a0001c0001t0012g0234 a0001c0001t0012g0235 others(4): Show a0001c0001t0012g0026 a0001c0001t0012g0234 a0001c0001t0012g0235 a0001c0001t0012g0237 a0001c0001t0012g0238 a0001c0001t0066g0026 a0001c0001t0067g0236	7	378	0.0185	-24	c.503 others(41): Show c.503-5074_503-5051delCTCTACCACAGACCCCTCATTCAG	EHD3	ENSG00000013016.16	transcript	ENST00000322054.10	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
EHD3_chr2_31229152_31274451	31266776	ACACACAC others(17): Show ACACACACACACACACACAAACATG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00323.hp1 HG01516.hp2 HG00323.hp1 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0005 a0001c0001t0029g0066 a0001c0001t0029g0005 a0001c0001t0029g0066	2	378	0.0053	-24	c.83 others(32): Show c.83_*106delCACACACAAACATGCACACACACA	EHD3	ENSG00000013016.16	transcript	ENST00000322054.10	protein_coding	6/6	83	INFO_REALIGN_3_PRIME	chr2	TogoVar
EHD3_chr2_31229152_31274451	31273953	TACACACA others(17): Show TACACACACACACACACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02717.hp2 HG02818.hp2 others(1): Show HG02630.hp1 HG02717.hp2 HG02818.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0010 a0001c0001t0033 a0001c0001t0007 a0001c0001t0010 a0001c0001t0033	a0001c0001t0007g0209 a0001c0001t0010g0176 a0001c0001t0010g0182 others(1): Show a0001c0001t0007g0209 a0001c0001t0010g0176 a0001c0001t0010g0182 a0001c0001t0033g0307	4	378	0.0106	-24	c.72 others(35): Show c.7250_*7273delACACACACACACACACACACACAC	EHD3	ENSG00000013016.16	transcript	ENST00000322054.10	protein_coding		4503		chr2	TogoVar
EHF_chr11_34616093_34668288	34653140	ACATCCTT others(17): Show ACATCCTTCCATCCTTCCATCCTTC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(103): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00741.hp1 HG01069.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01243.hp2 HG01255.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG02015.hp1 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02083.hp2 HG02145.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02300.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp2 HG02630.hp1 HG02735.hp2 HG02738.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03239.hp2 HG03453.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18948.hp1 NA18949.hp1 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18957.hp1 NA18960.hp1 NA18964.hp1 NA18965.hp2 NA18973.hp1 NA18977.hp1 NA18994.hp1 NA18997.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19003.hp1 NA19006.hp1 NA19010.hp1 NA19030.hp1 NA19043.hp2 NA19056.hp2 NA19058.hp2 NA19063.hp1 NA19082.hp1 NA19083.hp2 NA19086.hp1 NA20129.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0002c0009	a0001c0001t0002 a0001c0001t0007 a0001c0001t0012 others(22): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0027 a0001c0001t0028 a0001c0001t0032 a0001c0001t0033 a0001c0001t0038 a0001c0001t0042 a0001c0001t0045 a0001c0001t0060 a0001c0001t0068 a0001c0001t0069 a0001c0001t0074 a0001c0001t0075 a0001c0002t0002 a0001c0002t0012 a0001c0002t0039 a0001c0007t0070 a0002c0009t0015	a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0013 others(93): Show a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0013 a0001c0001t0002g0018 a0001c0001t0002g0062 a0001c0001t0002g0109 a0001c0001t0002g0119 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0128 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0145 a0001c0001t0002g0147 a0001c0001t0002g0155 a0001c0001t0002g0157 a0001c0001t0002g0166 a0001c0001t0002g0172 a0001c0001t0002g0207 a0001c0001t0002g0210 a0001c0001t0002g0221 a0001c0001t0002g0225 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0240 a0001c0001t0002g0252 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0258 a0001c0001t0002g0290 a0001c0001t0002g0299 a0001c0001t0002g0302 a0001c0001t0002g0380 a0001c0001t0007g0019 a0001c0001t0007g0022 a0001c0001t0007g0027 a0001c0001t0007g0030 a0001c0001t0007g0043 a0001c0001t0007g0048 a0001c0001t0007g0050 a0001c0001t0007g0054 a0001c0001t0007g0065 a0001c0001t0007g0066 a0001c0001t0007g0076 a0001c0001t0007g0096 a0001c0001t0007g0097 a0001c0001t0007g0317 a0001c0001t0007g0325 a0001c0001t0007g0334 a0001c0001t0012g0020 a0001c0001t0012g0217 a0001c0001t0012g0226 a0001c0001t0012g0369 a0001c0001t0012g0376 a0001c0001t0015g0340 a0001c0001t0015g0354 a0001c0001t0015g0355 a0001c0001t0015g0358 a0001c0001t0016g0219 a0001c0001t0016g0257 a0001c0001t0016g0381 a0001c0001t0019g0339 a0001c0001t0019g0343 a0001c0001t0021g0102 a0001c0001t0021g0103 a0001c0001t0021g0328 a0001c0001t0022g0101 a0001c0001t0022g0315 a0001c0001t0022g0327 a0001c0001t0027g0319 a0001c0001t0027g0330 a0001c0001t0028g0318 a0001c0001t0028g0329 a0001c0001t0032g0174 a0001c0001t0032g0175 a0001c0001t0033g0220 a0001c0001t0033g0254 a0001c0001t0038g0199 a0001c0001t0042g0071 a0001c0001t0045g0180 a0001c0001t0060g0204 a0001c0001t0068g0188 a0001c0001t0069g0279 a0001c0001t0074g0223 a0001c0001t0075g0194 a0001c0002t0002g0127 a0001c0002t0002g0212 a0001c0002t0012g0169 a0001c0002t0012g0216 a0001c0002t0012g0227 a0001c0002t0039g0347 a0001c0007t0070g0264 a0002c0009t0015g0368	106	410	0.2585	-24	c.544 others(41): Show c.544+1370_544+1393delTCCTTCCATCCTTCCATCCTTCCA	EHF	ENSG00000135373.13	transcript	ENST00000257831.8	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
EHMT1_chr9_137614005_137841127	137768529	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02055.hp1 HG03579.hp2 HG01106.hp1 HG02055.hp1 HG03579.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0151 a0001c0004t0001g0153 a0001c0004t0001g0169 a0001c0004t0001g0151 a0001c0004t0001g0153 a0001c0004t0001g0169	3	170	0.0177	-24	c.164 others(43): Show c.1647+5724_1647+5747delTTTTTTTTTTTTTTTTTTTTTTTT	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	10/26		INFO_REALIGN_3_PRIME	chr9	TogoVar

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