Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DTNBP1_chr6_15517807_15668028	15585064	AATATATA others(15): Show AATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00408.hp2 others(93): Show HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00609.hp1 HG00673.hp2 HG00741.hp1 HG01069.hp2 HG01099.hp1 HG01109.hp2 HG01123.hp2 HG01192.hp2 HG01255.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01884.hp2 HG01928.hp2 HG01978.hp1 HG01981.hp1 HG02004.hp2 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02300.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02970.hp1 HG02976.hp1 HG03239.hp2 HG03486.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03704.hp2 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18747.hp2 NA18906.hp2 NA18942.hp1 NA18945.hp2 NA18948.hp2 NA18949.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp2 NA18960.hp1 NA18962.hp1 NA18964.hp1 NA18965.hp1 NA18971.hp2 NA18975.hp2 NA18980.hp1 NA18982.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18991.hp2 NA19003.hp1 NA19003.hp2 NA19007.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19054.hp2 NA19063.hp1 NA19066.hp1 NA19068.hp2 NA19070.hp1 NA19079.hp2 NA19082.hp2 NA19084.hp1 NA19085.hp2 NA19087.hp1 NA20300.hp2 NA20805.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0006 a0001c0001 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 a0001c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0010 others(92): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0002g0176 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0207 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0287 a0001c0005t0001g0095 a0001c0006t0001g0115	96	314	0.3057	-22	c.511 others(39): Show c.511+7973_511+7994delATATATATATATATATATATAT	DTNBP1	ENSG00000047579.20	transcript	ENST00000344537.10	protein_coding	7/9			chr6	TogoVar
DTNB_chr2_25372243_25678577	25503053	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	1	168	0.0060	-22	c.100 others(43): Show c.1002-20202_1002-20181delTTTTTTTTTTTTTTTTTTTTTT	DTNB	ENSG00000138101.20	transcript	ENST00000406818.8	protein_coding	9/20			chr2	TogoVar
DTWD2_chr5_118831074_118993547	118924217	GTATCTCC others(15): Show GTATCTCCTAGCAGGAGGATATT	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0174 a0001c0001t0002g0174	1	242	0.0041	-22	c.597 others(39): Show c.597+4298_597+4319delAATATCCTCCTGCTAGGAGATA	DTWD2	ENSG00000169570.10	transcript	ENST00000510708.6	protein_coding	4/5			chr5	TogoVar
DTX3L_chr3_122559338_122580203	122579993	CTATATGT others(15): Show CTATATGTATATATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00597.hp2 others(34): Show HG00140.hp1 HG00140.hp2 HG00597.hp2 HG00738.hp1 HG01109.hp1 HG01496.hp2 HG01884.hp2 HG01928.hp1 HG01952.hp2 HG01975.hp2 HG02004.hp2 HG02071.hp2 HG02083.hp1 HG02129.hp2 HG02148.hp1 HG02273.hp2 HG02602.hp1 HG02615.hp2 HG02717.hp2 HG03017.hp2 HG03516.hp2 HG03942.hp1 HG04204.hp1 NA18949.hp1 NA18954.hp2 NA18970.hp2 NA18973.hp1 NA18992.hp1 NA19000.hp2 NA19001.hp2 NA19005.hp2 NA19007.hp2 NA19079.hp2 NA19082.hp1 NA19084.hp2 NA19086.hp2 NA20905.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0002c0002 others(3): Show a0001c0001 a0001c0003 a0002c0002 a0002c0004 a0004c0006 a0004c0016	a0001c0001t0004 a0001c0001t0016 a0001c0003t0001 others(7): Show a0001c0001t0004 a0001c0001t0016 a0001c0003t0001 a0002c0002t0004 a0002c0002t0016 a0002c0002t0022 a0002c0002t0027 a0002c0004t0001 a0004c0006t0004 a0004c0016t0004	a0001c0001t0004g0001 a0001c0001t0004g0002 a0001c0001t0004g0004 others(28): Show a0001c0001t0004g0001 a0001c0001t0004g0002 a0001c0001t0004g0004 a0001c0001t0004g0006 a0001c0001t0004g0012 a0001c0001t0004g0040 a0001c0001t0004g0041 a0001c0001t0004g0049 a0001c0001t0004g0096 a0001c0001t0004g0128 a0001c0001t0016g0002 a0001c0001t0016g0100 a0001c0003t0001g0072 a0001c0003t0001g0079 a0002c0002t0004g0003 a0002c0002t0004g0007 a0002c0002t0004g0016 a0002c0002t0004g0020 a0002c0002t0004g0042 a0002c0002t0004g0050 a0002c0002t0004g0081 a0002c0002t0004g0117 a0002c0002t0004g0120 a0002c0002t0004g0166 a0002c0002t0016g0149 a0002c0002t0016g0168 a0002c0002t0022g0003 a0002c0002t0027g0055 a0002c0004t0001g0036 a0004c0006t0004g0005 a0004c0016t0004g0109	37	472	0.0784	-22	c.82 others(33): Show c.8247_*8268delTATATGTATATATATATATATA	DTX3L	ENSG00000163840.10	transcript	ENST00000296161.9	protein_coding		4791		chr3	TogoVar
DUOX1_chr15_45124994_45170574	45153526	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp1 HG00609.hp1 others(51): Show HG00423.hp2 HG00558.hp1 HG00609.hp1 HG00741.hp2 HG01109.hp2 HG01255.hp1 HG01346.hp2 HG01496.hp1 HG02027.hp2 HG02055.hp1 HG02074.hp1 HG02083.hp1 HG02257.hp2 HG02735.hp1 HG02738.hp1 HG02896.hp1 HG02897.hp1 HG03017.hp2 HG03490.hp2 HG03492.hp1 HG03710.hp1 HG06807.hp1 NA18747.hp1 NA18940.hp2 NA18944.hp2 NA18947.hp2 NA18950.hp1 NA18951.hp2 NA18960.hp2 NA18965.hp1 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18973.hp1 NA18975.hp1 NA18979.hp1 NA18987.hp1 NA18990.hp1 NA18992.hp2 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19001.hp2 NA19005.hp1 NA19054.hp1 NA19060.hp2 NA19064.hp2 NA19068.hp1 NA19070.hp2 NA19081.hp2 NA19082.hp1 NA19090.hp1	a0002 a0006 a0007 others(4): Show a0002 a0006 a0007 a0008 a0014 a0016 a0021	a0002c0002 a0002c0006 a0002c0023 others(6): Show a0002c0002 a0002c0006 a0002c0023 a0006c0012 a0007c0016 a0008c0013 a0014c0021 a0016c0034 a0021c0028	a0002c0002t0003 a0002c0006t0003 a0002c0023t0003 others(6): Show a0002c0002t0003 a0002c0006t0003 a0002c0023t0003 a0006c0012t0003 a0007c0016t0003 a0008c0013t0003 a0014c0021t0003 a0016c0034t0003 a0021c0028t0009	a0002c0002t0003g0002 a0002c0002t0003g0023 a0002c0002t0003g0025 others(47): Show a0002c0002t0003g0002 a0002c0002t0003g0023 a0002c0002t0003g0025 a0002c0002t0003g0026 a0002c0002t0003g0027 a0002c0002t0003g0030 a0002c0002t0003g0031 a0002c0002t0003g0032 a0002c0002t0003g0033 a0002c0002t0003g0034 a0002c0002t0003g0035 a0002c0002t0003g0036 a0002c0002t0003g0037 a0002c0002t0003g0039 a0002c0002t0003g0050 a0002c0002t0003g0051 a0002c0002t0003g0054 a0002c0002t0003g0055 a0002c0002t0003g0056 a0002c0002t0003g0057 a0002c0002t0003g0058 a0002c0002t0003g0059 a0002c0002t0003g0060 a0002c0002t0003g0061 a0002c0002t0003g0062 a0002c0002t0003g0067 a0002c0002t0003g0236 a0002c0002t0003g0248 a0002c0002t0003g0253 a0002c0002t0003g0257 a0002c0002t0003g0258 a0002c0002t0003g0305 a0002c0002t0003g0307 a0002c0002t0003g0315 a0002c0002t0003g0316 a0002c0002t0003g0317 a0002c0002t0003g0335 a0002c0002t0003g0350 a0002c0006t0003g0344 a0002c0006t0003g0346 a0002c0023t0003g0353 a0006c0012t0003g0139 a0006c0012t0003g0141 a0007c0016t0003g0188 a0007c0016t0003g0314 a0008c0013t0003g0065 a0008c0013t0003g0066 a0014c0021t0003g0352 a0016c0034t0003g0029 a0021c0028t0009g0028	54	386	0.1399	-22	c.352 others(37): Show c.3524+49_3524+70delGTGTGTGTGTGTGTGTGTGTAT	DUOX1	ENSG00000137857.18	transcript	ENST00000389037.7	protein_coding	26/33		INFO_REALIGN_3_PRIME	chr15	TogoVar
DUS2_chr16_68018284_68084320	68035878	CTAATTTT others(15): Show CTAATTTTATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	234	0.0043	-22	c.-18 others(39): Show c.-18-2125_-18-2104delATTTTATATATATATATATATA	DUS2	ENSG00000167264.18	transcript	ENST00000565263.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
DUS2_chr16_68018284_68084320	68035884	TTATATAT others(15): Show TTATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	234	0.0043	-22	c.-18 others(39): Show c.-18-2097_-18-2076delTATATATATATATATATATATA	DUS2	ENSG00000167264.18	transcript	ENST00000565263.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
DUS2_chr16_68018284_68084320	68035909	TATATATA others(15): Show TATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02896.hp2 HG02897.hp2 others(3): Show HG01891.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG03209.hp2 HG03540.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0001 a0001c0001t0001 a0002c0005t0001	a0001c0001t0001g0216 a0001c0001t0001g0217 a0002c0005t0001g0212 others(3): Show a0001c0001t0001g0216 a0001c0001t0001g0217 a0002c0005t0001g0212 a0002c0005t0001g0213 a0002c0005t0001g0214 a0002c0005t0001g0215	6	234	0.0256	-22	c.-18 others(39): Show c.-18-2095_-18-2074delTATATATATATATATATATACA	DUS2	ENSG00000167264.18	transcript	ENST00000565263.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
DUSP14_chr17_37484891_37518498	37497530	GGGAGGTG others(15): Show GGGAGGTGGATGGCTTGAGCCCA	G G	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0191 a0001c0001t0002g0191	1	421	0.0024	-22	c.-18 others(41): Show c.-181+7577_-181+7598delGTGGATGGCTTGAGCCCAGGAG	DUSP14	ENSG00000276023.5	transcript	ENST00000617516.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr17	TogoVar
DUSP14_chr17_37484891_37518498	37509243	CTATATAT others(15): Show CTATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02109.hp2 HG02572.hp2 others(1): Show HG02055.hp1 HG02109.hp2 HG02572.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0075 a0001c0001t0006g0076 a0001c0001t0006g0077 others(1): Show a0001c0001t0006g0075 a0001c0001t0006g0076 a0001c0001t0006g0077 a0001c0001t0006g0078	4	421	0.0095	-22	c.-18 others(41): Show c.-180-1401_-180-1380delTATATATATATATATATATATA	DUSP14	ENSG00000276023.5	transcript	ENST00000617516.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr17	TogoVar
DUSP15_chr20_31856077_31875527	31867470	TGTTCTCT others(15): Show TGTTCTCTGCAGTCCTGCTTATA	T T	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0051 a0003c0005t0001g0051	1	378	0.0027	-22	c.56- others(35): Show c.56-339_56-318delTATAAGCAGGACTGCAGAGAAC	DUSP15	ENSG00000149599.16	transcript	ENST00000339738.10	protein_coding	2/6			chr20	TogoVar
DUSP26_chr8_33586330_33605023	33587539	TTCTTTCT others(15): Show TTCTTTCTTTCTTTCTTTCTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02109.hp1 HG02896.hp1 others(3): Show HG02055.hp1 HG02109.hp1 HG02896.hp1 HG02897.hp2 HG03209.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0010 a0001c0002t0003 a0001c0001t0001 a0001c0001t0010 a0001c0002t0003	a0001c0001t0001g0026 a0001c0001t0001g0076 a0001c0001t0001g0118 others(2): Show a0001c0001t0001g0026 a0001c0001t0001g0076 a0001c0001t0001g0118 a0001c0001t0010g0053 a0001c0002t0003g0116	6	420	0.0143	-22	c.44 others(33): Show c.4452_*4473delGAAAGAAAGAAAGAAAGAAAGA	DUSP26	ENSG00000133878.9	transcript	ENST00000256261.9	protein_coding		3790		chr8	TogoVar
DUSP29_chr10_75032472_75078642	75076527	CGAGTGCC others(15): Show CGAGTGCCTCAACAGGCTCGAGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00423.hp2 HG00639.hp2 others(62): Show HG00280.hp2 HG00423.hp2 HG00639.hp2 HG00642.hp1 HG01081.hp1 HG01109.hp1 HG01123.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01261.hp1 HG01361.hp1 HG01433.hp2 HG02015.hp2 HG02145.hp2 HG02155.hp1 HG02257.hp1 HG02451.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02647.hp1 HG02698.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02896.hp1 HG02922.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG04199.hp1 HG04228.hp1 HG06807.hp1 NA18986.hp1 NA18994.hp1 NA19074.hp1 NA19080.hp2 NA19091.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0009	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0004c0005 a0006c0007 a0009c0011	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 others(6): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0002c0002t0006 a0002c0002t0007 a0003c0003t0001 a0004c0005t0001 a0006c0007t0001 a0009c0011t0001	a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0121 others(48): Show a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0001g0151 a0001c0001t0001g0172 a0001c0001t0001g0176 a0001c0001t0001g0262 a0001c0001t0001g0266 a0001c0001t0001g0269 a0001c0001t0003g0052 a0002c0002t0001g0005 a0002c0002t0001g0020 a0002c0002t0001g0031 a0002c0002t0001g0056 a0002c0002t0001g0060 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0185 a0002c0002t0001g0254 a0002c0002t0001g0256 a0002c0002t0001g0264 a0002c0002t0006g0062 a0002c0002t0007g0280 a0003c0003t0001g0017 a0003c0003t0001g0018 a0003c0003t0001g0019 a0003c0003t0001g0050 a0003c0003t0001g0057 a0003c0003t0001g0260 a0003c0003t0001g0263 a0003c0003t0001g0265 a0003c0003t0001g0267 a0003c0003t0001g0268 a0003c0003t0001g0270 a0003c0003t0001g0271 a0003c0003t0001g0272 a0003c0003t0001g0273 a0003c0003t0001g0274 a0003c0003t0001g0275 a0003c0003t0001g0278 a0003c0003t0001g0279 a0004c0005t0001g0126 a0006c0007t0001g0051 a0009c0011t0001g0061	65	368	0.1766	-22	c.-30 others(33): Show c.-3015_-2994delTCTCGAGCCTGTTGAGGCACTC	DUSP29	ENSG00000188716.6	transcript	ENST00000338487.6	protein_coding		2886		chr10	TogoVar
DUSP5_chr10_110492907_110516533	110514454	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	410	0.0024	-22	c.40 others(33): Show c.4029_*4050delTTTTTTTTTTTTTTTTTTTTTT	DUSP5	ENSG00000138166.6	transcript	ENST00000369583.4	protein_coding		2922		chr10	TogoVar
DYM_chr18_49031387_49465645	49254281	CATATATA others(15): Show CATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp2 others(103): Show HG00099.hp1 HG00099.hp2 HG00323.hp2 HG00408.hp1 HG00621.hp2 HG00642.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01074.hp1 HG01106.hp2 HG01109.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01934.hp1 HG01975.hp2 HG01981.hp1 HG02004.hp2 HG02015.hp1 HG02056.hp2 HG02074.hp2 HG02083.hp2 HG02129.hp1 HG02135.hp1 HG02145.hp2 HG02280.hp2 HG02300.hp1 HG02683.hp2 HG02717.hp1 HG02735.hp2 HG02809.hp2 HG02895.hp2 HG02897.hp1 HG02970.hp1 HG03041.hp1 HG03209.hp1 HG03225.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03710.hp2 HG03942.hp2 HG04204.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18943.hp2 NA18946.hp2 NA18948.hp1 NA18951.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18964.hp1 NA18975.hp1 NA18979.hp2 NA18982.hp2 NA18984.hp2 NA18989.hp2 NA18991.hp1 NA18992.hp2 NA18994.hp2 NA19009.hp2 NA19043.hp2 NA19056.hp1 NA19060.hp2 NA19065.hp1 NA19068.hp1 NA19074.hp1 NA19077.hp1 NA19079.hp1 NA19084.hp1 NA19088.hp1 NA19090.hp1 NA20129.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0012 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0030 a0001c0001t0033 a0005c0006t0006	a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0219 others(103): Show a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0002g0113 a0001c0001t0002g0142 a0001c0001t0002g0159 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0173 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0179 a0001c0001t0002g0186 a0001c0001t0002g0188 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0232 a0001c0001t0002g0235 a0001c0001t0002g0248 a0001c0001t0002g0279 a0001c0001t0002g0281 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0287 a0001c0001t0003g0164 a0001c0001t0003g0167 a0001c0001t0003g0174 a0001c0001t0003g0181 a0001c0001t0003g0185 a0001c0001t0003g0210 a0001c0001t0003g0214 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0231 a0001c0001t0004g0116 a0001c0001t0004g0117 a0001c0001t0004g0118 a0001c0001t0004g0119 a0001c0001t0004g0122 a0001c0001t0004g0123 a0001c0001t0004g0124 a0001c0001t0004g0126 a0001c0001t0004g0128 a0001c0001t0004g0129 a0001c0001t0004g0130 a0001c0001t0004g0131 a0001c0001t0004g0134 a0001c0001t0004g0135 a0001c0001t0004g0136 a0001c0001t0004g0137 a0001c0001t0004g0138 a0001c0001t0004g0139 a0001c0001t0004g0141 a0001c0001t0004g0152 a0001c0001t0004g0191 a0001c0001t0004g0192 a0001c0001t0004g0257 a0001c0001t0004g0289 a0001c0001t0006g0158 a0001c0001t0006g0178 a0001c0001t0006g0180 a0001c0001t0006g0183 a0001c0001t0006g0184 a0001c0001t0006g0208 a0001c0001t0008g0014 a0001c0001t0008g0016 a0001c0001t0012g0160 a0001c0001t0012g0161 a0001c0001t0012g0211 a0001c0001t0016g0125 a0001c0001t0016g0140 a0001c0001t0017g0282 a0001c0001t0017g0288 a0001c0001t0019g0196 a0001c0001t0021g0225 a0001c0001t0022g0182 a0001c0001t0030g0127 a0001c0001t0033g0280 a0005c0006t0006g0157	106	290	0.3655	-22	c.146 others(41): Show c.1460+2707_1460+2728delATATATATATATATATATATAT	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	13/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49258839	CAGAGAGA others(15): Show CAGAGAGAGAGAGAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02015.hp1 NA18612.hp1 HG00741.hp2 HG02015.hp1 NA18612.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0003 a0005c0006t0006 a0001c0001t0003 a0005c0006t0006	a0001c0001t0003g0210 a0001c0001t0003g0227 a0005c0006t0006g0157 a0001c0001t0003g0210 a0001c0001t0003g0227 a0005c0006t0006g0157	3	290	0.0103	-22	c.125 others(39): Show c.1252-368_1252-347delCTCTCTCTCTCTCTCTCTCTCT	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	11/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49289727	GTATATAT others(15): Show GTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0145 a0001c0001t0010g0145	1	290	0.0035	-22	c.764 others(39): Show c.764-3133_764-3112delTATATATATATATATATATATA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	8/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49289754	TATATATA others(15): Show TATATATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02895.hp1 HG02970.hp2 others(2): Show HG02886.hp2 HG02895.hp1 HG02970.hp2 HG03225.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0115 a0001c0001t0003g0153 a0001c0001t0003g0154 others(2): Show a0001c0001t0003g0115 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0005g0156	5	290	0.0172	-22	c.764 others(39): Show c.764-3160_764-3139delGTGTATATATATATATATATAT	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	8/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49294178	TCTGTTTT others(15): Show TCTGTTTTGGTACCAGTACCATG	T T	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02015.hp1 HG03491.hp1 others(5): Show HG01361.hp1 HG02015.hp1 HG03491.hp1 HG03710.hp2 HG03942.hp2 NA18612.hp1 NA18954.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0021 a0001c0001t0003 a0001c0001t0021	a0001c0001t0003g0210 a0001c0001t0003g0226 a0001c0001t0003g0227 others(5): Show a0001c0001t0003g0210 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0231 a0001c0001t0021g0225 a0001c0001t0021g0234	8	290	0.0276	-22	c.764 others(39): Show c.764-7584_764-7563delCATGGTACTGGTACCAAAACAG	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	8/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49441270	TATATATT others(15): Show TATATATTATATAATTATATATA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00735.hp1 HG00738.hp1 others(10): Show HG00323.hp2 HG00735.hp1 HG00738.hp1 HG01257.hp2 HG01258.hp1 HG01934.hp1 HG02145.hp1 HG02572.hp1 HG02809.hp1 HG03195.hp1 HG03654.hp2 NA19030.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0017 others(2): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0017 a0001c0001t0033 a0001c0001t0036	a0001c0001t0002g0279 a0001c0001t0002g0281 a0001c0001t0002g0283 others(10): Show a0001c0001t0002g0279 a0001c0001t0002g0281 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0011g0240 a0001c0001t0011g0241 a0001c0001t0011g0242 a0001c0001t0011g0243 a0001c0001t0011g0244 a0001c0001t0017g0282 a0001c0001t0033g0280 a0001c0001t0036g0148	13	290	0.0448	-22	c.-53 others(41): Show c.-53-10845_-53-10824delTATATATAATTATATAATATAT	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17			chr18	TogoVar
DYNC1I1_chr7_95767554_96103424	95785775	GTATATAT others(15): Show GTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	230	0.0044	-22	c.-10 others(41): Show c.-10+13024_-10+13045delATATATATATATATATATATAT	DYNC1I1	ENSG00000158560.14	transcript	ENST00000447467.6	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC1I1_chr7_95767554_96103424	95937262	GTTAACCA others(15): Show GTTAACCATAGTATATTGGATAC	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01346.hp2 HG01433.hp2 others(3): Show HG00323.hp2 HG01346.hp2 HG01433.hp2 HG03669.hp1 HG04184.hp1 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0003t0002	a0001c0001t0001g0064 a0001c0002t0001g0172 a0001c0003t0001g0015 others(3): Show a0001c0001t0001g0064 a0001c0002t0001g0172 a0001c0003t0001g0015 a0001c0003t0001g0202 a0001c0003t0001g0205 a0001c0003t0002g0125	6	230	0.0261	-22	c.491 others(41): Show c.491-40245_491-40224delCCATAGTATATTGGATACTTAA	DYNC1I1	ENSG00000158560.14	transcript	ENST00000447467.6	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC1LI2_chr16_66715893_66756609	66738884	AACACACA others(15): Show AACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0227 a0001c0001t0003g0227	1	340	0.0029	-22	c.530 others(39): Show c.530-2662_530-2641delGTGTGTGTGTGTGTGTGTGTGT	DYNC1LI2	ENSG00000135720.13	transcript	ENST00000258198.7	protein_coding	4/12			chr16	TogoVar
DYRK1A_chr21_37361773_37531358	37403663	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0341 a0001c0001t0011g0341	1	350	0.0029	-22	c.-76 others(41): Show c.-76-16620_-76-16599delGTGTGTGTGTGTGTGTGTGTGT	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
DYSF_chr2_71448561_71691763	71493853	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02040.hp2 NA18994.hp2 others(1): Show HG00673.hp1 HG02040.hp2 NA18994.hp2 NA19087.hp2	a0001 a0008 a0001 a0008	a0001c0002 a0001c0003 a0001c0050 others(1): Show a0001c0002 a0001c0003 a0001c0050 a0008c0045	a0001c0002t0002 a0001c0003t0001 a0001c0050t0002 others(1): Show a0001c0002t0002 a0001c0003t0001 a0001c0050t0002 a0008c0045t0001	a0001c0002t0002g0181 a0001c0003t0001g0105 a0001c0050t0002g0154 others(1): Show a0001c0002t0002g0181 a0001c0003t0001g0105 a0001c0050t0002g0154 a0008c0045t0001g0132	4	192	0.0208	-22	c.237 others(39): Show c.237-9357_237-9336delAAAAAAAAAAAAAAAAAAGAAA	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	3/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71448561_71691763	71570927	CAGATCAC others(15): Show CAGATCACACCCAGCATACCCAA	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01891.hp1 HG02615.hp2 others(15): Show HG01099.hp1 HG01891.hp1 HG02615.hp2 HG02630.hp1 HG02717.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03540.hp2 HG06807.hp1 NA18522.hp1 NA19043.hp2 NA20300.hp1 NA21309.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0013 a0018	a0001c0001 a0001c0003 a0001c0007 others(10): Show a0001c0001 a0001c0003 a0001c0007 a0001c0010 a0001c0041 a0001c0051 a0001c0052 a0001c0073 a0002c0023 a0003c0082 a0005c0060 a0013c0035 a0018c0059	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0007t0002 a0001c0010t0002 a0001c0041t0002 a0001c0051t0002 a0001c0052t0001 a0001c0073t0001 a0002c0023t0001 a0003c0082t0003 a0005c0060t0002 a0013c0035t0001 a0018c0059t0001	a0001c0001t0001g0045 a0001c0001t0001g0069 a0001c0001t0001g0095 others(15): Show a0001c0001t0001g0045 a0001c0001t0001g0069 a0001c0001t0001g0095 a0001c0001t0002g0018 a0001c0003t0001g0091 a0001c0007t0002g0014 a0001c0007t0002g0016 a0001c0007t0002g0142 a0001c0010t0002g0026 a0001c0041t0002g0144 a0001c0051t0002g0015 a0001c0052t0001g0009 a0001c0073t0001g0005 a0002c0023t0001g0072 a0003c0082t0003g0185 a0005c0060t0002g0143 a0013c0035t0001g0051 a0018c0059t0001g0093	18	192	0.0938	-22	c.317 others(39): Show c.3174+205_3174+226delCCAAAGATCACACCCAGCATAC	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	29/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71448561_71691763	71571021	TCAGCACA others(15): Show TCAGCACACACACAGATTACACC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02630.hp1 HG03209.hp2 others(2): Show HG01891.hp1 HG02630.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp1	a0001 a0013 a0018 a0001 a0013 a0018	a0001c0010 a0001c0041 a0001c0073 others(2): Show a0001c0010 a0001c0041 a0001c0073 a0013c0035 a0018c0059	a0001c0010t0002 a0001c0041t0002 a0001c0073t0001 others(2): Show a0001c0010t0002 a0001c0041t0002 a0001c0073t0001 a0013c0035t0001 a0018c0059t0001	a0001c0010t0002g0026 a0001c0041t0002g0144 a0001c0073t0001g0005 others(2): Show a0001c0010t0002g0026 a0001c0041t0002g0144 a0001c0073t0001g0005 a0013c0035t0001g0051 a0018c0059t0001g0093	5	192	0.0260	-22	c.317 others(39): Show c.3174+297_3174+318delTACACCCAGCACACACACAGAT	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	29/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71448561_71691763	71571428	GCACACAC others(15): Show GCACACACAGATCACACCCAGCA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG00609.hp1 others(37): Show HG00438.hp1 HG00544.hp1 HG00609.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01175.hp1 HG01433.hp2 HG01934.hp2 HG01978.hp2 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02165.hp2 HG02300.hp1 HG02486.hp1 HG02698.hp1 HG03239.hp2 HG03490.hp1 HG03490.hp2 HG03704.hp1 HG03710.hp1 HG03942.hp1 HG03942.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18946.hp1 NA18948.hp1 NA18952.hp2 NA18963.hp1 NA18963.hp2 NA18969.hp2 NA19009.hp2 NA19064.hp1 NA19068.hp1 NA19074.hp1 NA19074.hp2 NA19088.hp2	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0011 a0020	a0001c0001 a0001c0002 a0001c0005 others(11): Show a0001c0001 a0001c0002 a0001c0005 a0001c0011 a0001c0012 a0001c0014 a0001c0027 a0001c0053 a0001c0057 a0001c0071 a0002c0067 a0006c0085 a0011c0054 a0020c0063	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0005t0001 a0001c0005t0002 a0001c0011t0001 a0001c0012t0001 a0001c0014t0001 a0001c0027t0001 a0001c0053t0001 a0001c0057t0001 a0001c0071t0002 a0002c0067t0001 a0006c0085t0001 a0011c0054t0002 a0020c0063t0001	a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0098 others(37): Show a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0098 a0001c0001t0001g0126 a0001c0001t0002g0163 a0001c0001t0002g0172 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0002t0001g0041 a0001c0002t0001g0094 a0001c0002t0001g0097 a0001c0002t0001g0108 a0001c0002t0001g0119 a0001c0002t0001g0122 a0001c0002t0001g0130 a0001c0002t0001g0133 a0001c0002t0001g0135 a0001c0002t0001g0139 a0001c0002t0001g0161 a0001c0002t0002g0151 a0001c0002t0002g0159 a0001c0002t0002g0162 a0001c0002t0002g0166 a0001c0002t0002g0167 a0001c0002t0002g0173 a0001c0005t0001g0056 a0001c0005t0001g0140 a0001c0005t0002g0152 a0001c0011t0001g0075 a0001c0012t0001g0071 a0001c0012t0001g0127 a0001c0014t0001g0109 a0001c0027t0001g0141 a0001c0053t0001g0040 a0001c0057t0001g0107 a0001c0071t0002g0077 a0002c0067t0001g0038 a0006c0085t0001g0168 a0011c0054t0002g0164 a0020c0063t0001g0036	40	192	0.2083	-22	c.317 others(39): Show c.3174+718_3174+739delGATCACACCCAGCACACACACA	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	29/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71448561_71691763	71572073	CACCCAGC others(15): Show CACCCAGCACACCCACAGATCAT	C C	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0020 a0020	a0020c0063 a0020c0063	a0020c0063t0001 a0020c0063t0001	a0020c0063t0001g0036 a0020c0063t0001g0036	1	192	0.0052	-22	c.317 others(41): Show c.3174+1365_3174+1386delCCCACAGATCATACCCAGCACA	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	29/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71493853	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02040.hp1 HG02523.hp2 others(1): Show HG00673.hp1 HG02040.hp1 HG02523.hp2 NA19087.hp1	a0001 a0010 a0001 a0010	a0001c0002 a0001c0003 a0010c0046 a0001c0002 a0001c0003 a0010c0046	a0001c0002t0002 a0001c0003t0001 a0010c0046t0001 a0001c0002t0002 a0001c0003t0001 a0010c0046t0001	a0001c0002t0002g0156 a0001c0003t0001g0055 a0001c0003t0001g0098 others(1): Show a0001c0002t0002g0156 a0001c0003t0001g0055 a0001c0003t0001g0098 a0010c0046t0001g0066	4	208	0.0192	-22	c.240 others(39): Show c.240-9357_240-9336delAAAAAAAAAAAAAAAAAAGAAA	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	3/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71570927	CAGATCAC others(15): Show CAGATCACACCCAGCATACCCAA	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01891.hp2 HG02615.hp2 others(15): Show HG01099.hp1 HG01891.hp2 HG02615.hp2 HG02630.hp1 HG02717.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03209.hp2 HG03453.hp1 HG03540.hp1 HG03654.hp1 HG06807.hp1 NA18522.hp2 NA19043.hp2 NA20300.hp2 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0020	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0010 a0001c0042 a0001c0052 a0001c0053 a0001c0078 a0002c0023 a0003c0088 a0006c0063 a0020c0062	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(11): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0007t0001 a0001c0007t0004 a0001c0010t0001 a0001c0042t0001 a0001c0052t0004 a0001c0053t0001 a0001c0078t0001 a0002c0023t0001 a0003c0088t0006 a0006c0063t0001 a0020c0062t0001	a0001c0001t0001g0037 a0001c0001t0001g0049 a0001c0001t0001g0082 others(15): Show a0001c0001t0001g0037 a0001c0001t0001g0049 a0001c0001t0001g0082 a0001c0001t0001g0119 a0001c0002t0001g0052 a0001c0003t0001g0043 a0001c0007t0001g0139 a0001c0007t0004g0020 a0001c0007t0004g0022 a0001c0010t0001g0035 a0001c0042t0001g0141 a0001c0052t0004g0021 a0001c0053t0001g0206 a0001c0078t0001g0199 a0002c0023t0001g0123 a0003c0088t0006g0192 a0006c0063t0001g0140 a0020c0062t0001g0045	18	208	0.0865	-22	c.322 others(39): Show c.3228+205_3228+226delCCAAAGATCACACCCAGCATAC	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	29/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71571021	TCAGCACA others(15): Show TCAGCACACACACAGATTACACC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02630.hp1 HG03209.hp2 others(2): Show HG01891.hp2 HG02630.hp1 HG03209.hp2 HG03453.hp1 HG03654.hp1	a0001 a0020 a0001 a0020	a0001c0002 a0001c0010 a0001c0042 others(2): Show a0001c0002 a0001c0010 a0001c0042 a0001c0078 a0020c0062	a0001c0002t0001 a0001c0010t0001 a0001c0042t0001 others(2): Show a0001c0002t0001 a0001c0010t0001 a0001c0042t0001 a0001c0078t0001 a0020c0062t0001	a0001c0002t0001g0052 a0001c0010t0001g0035 a0001c0042t0001g0141 others(2): Show a0001c0002t0001g0052 a0001c0010t0001g0035 a0001c0042t0001g0141 a0001c0078t0001g0199 a0020c0062t0001g0045	5	208	0.0240	-22	c.322 others(39): Show c.3228+297_3228+318delTACACCCAGCACACACACAGAT	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	29/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71571428	GCACACAC others(15): Show GCACACACAGATCACACCCAGCA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG01074.hp2 others(40): Show HG00438.hp1 HG00544.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01175.hp2 HG01433.hp2 HG01934.hp1 HG01978.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02148.hp2 HG02165.hp2 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02698.hp2 HG03490.hp1 HG03490.hp2 HG03669.hp1 HG03704.hp1 HG03710.hp1 HG03942.hp1 HG03942.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18946.hp1 NA18948.hp2 NA18952.hp2 NA18963.hp1 NA18963.hp2 NA18969.hp1 NA18979.hp2 NA19064.hp1 NA19068.hp1 NA19074.hp1 NA19074.hp2 NA19088.hp1	a0001 a0002 a0005 others(4): Show a0001 a0002 a0005 a0007 a0008 a0013 a0022	a0001c0001 a0001c0002 a0001c0005 others(14): Show a0001c0001 a0001c0002 a0001c0005 a0001c0008 a0001c0013 a0001c0014 a0001c0017 a0001c0028 a0001c0057 a0001c0073 a0002c0070 a0005c0034 a0005c0035 a0007c0027 a0008c0091 a0013c0054 a0022c0066	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0005t0001 a0001c0005t0002 a0001c0008t0001 a0001c0013t0001 a0001c0013t0002 a0001c0014t0001 a0001c0017t0001 a0001c0028t0001 a0001c0057t0001 a0001c0073t0001 a0002c0070t0001 a0005c0034t0002 a0005c0035t0001 a0007c0027t0007 a0008c0091t0002 a0013c0054t0002 a0022c0066t0001	a0001c0001t0001g0002 a0001c0001t0001g0056 a0001c0001t0001g0106 others(40): Show a0001c0001t0001g0002 a0001c0001t0001g0056 a0001c0001t0001g0106 a0001c0001t0002g0167 a0001c0001t0002g0179 a0001c0002t0001g0003 a0001c0002t0001g0017 a0001c0002t0001g0040 a0001c0002t0001g0046 a0001c0002t0001g0048 a0001c0002t0001g0051 a0001c0002t0001g0067 a0001c0002t0001g0069 a0001c0002t0001g0073 a0001c0002t0001g0107 a0001c0002t0002g0163 a0001c0002t0002g0165 a0001c0002t0002g0166 a0001c0002t0002g0170 a0001c0002t0002g0172 a0001c0002t0002g0173 a0001c0002t0002g0180 a0001c0002t0002g0181 a0001c0002t0002g0185 a0001c0005t0001g0074 a0001c0005t0001g0087 a0001c0005t0002g0177 a0001c0008t0001g0126 a0001c0013t0001g0057 a0001c0013t0002g0186 a0001c0014t0001g0004 a0001c0017t0001g0101 a0001c0017t0001g0133 a0001c0028t0001g0060 a0001c0057t0001g0009 a0001c0073t0001g0128 a0002c0070t0001g0079 a0005c0034t0002g0153 a0005c0035t0001g0122 a0007c0027t0007g0159 a0008c0091t0002g0174 a0013c0054t0002g0169 a0022c0066t0001g0075	43	208	0.2067	-22	c.322 others(39): Show c.3228+718_3228+739delGATCACACCCAGCACACACACA	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	29/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71572073	CACCCAGC others(15): Show CACCCAGCACACCCACAGATCAT	C C	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0022 a0022	a0022c0066 a0022c0066	a0022c0066t0001 a0022c0066t0001	a0022c0066t0001g0075 a0022c0066t0001g0075	1	208	0.0048	-22	c.322 others(41): Show c.3228+1365_3228+1386delCCCACAGATCATACCCAGCACA	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	29/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
DZIP3_chr3_108584722_108699840	108653505	GTGTATAT others(15): Show GTGTATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0005 a0004c0005t0005	a0004c0005t0005g0018 a0004c0005t0005g0018	1	318	0.0031	-22	c.203 others(39): Show c.2034-638_2034-617delGTATATATATATATATATATAT	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	18/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
E2F5_chr8_85172154_85219518	85185130	AACCAAAA others(15): Show AACCAAAACAGCATGGTATTGGT	A A	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	336	0.0030	-22	c.234 others(39): Show c.234+7487_234+7508delCATGGTATTGGTACCAAAACAG	E2F5	ENSG00000133740.11	transcript	ENST00000416274.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
E2F7_chr12_77016251_77070569	77068789	GTATATAT others(15): Show GTATATATATATATATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp2 NA18991.hp2 NA18999.hp2 NA18952.hp2 NA18991.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0012 a0001c0001t0001 a0001c0002t0001 a0001c0002t0012	a0001c0001t0001g0285 a0001c0002t0001g0009 a0001c0002t0012g0257 a0001c0001t0001g0285 a0001c0002t0001g0009 a0001c0002t0012g0257	3	394	0.0076	-22	c.-34 others(33): Show c.-3467_-3446delTATATATATATATATATATATA	E2F7	ENSG00000165891.16	transcript	ENST00000322886.12	protein_coding		3221		chr12	TogoVar
EBF1_chr5_158690920_159104916	158866833	GTATATAT others(15): Show GTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG00741.hp2 others(19): Show HG00423.hp2 HG00544.hp1 HG00741.hp2 HG01070.hp1 HG01081.hp1 HG01167.hp2 HG01261.hp2 HG01361.hp2 HG01884.hp2 HG02015.hp2 HG02055.hp2 HG02145.hp2 HG02523.hp1 HG02572.hp1 HG02647.hp2 HG02809.hp1 HG03139.hp1 HG03486.hp1 HG03490.hp2 NA18949.hp2 NA18963.hp2 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0039 a0001c0001t0044 a0001c0001t0050 a0001c0001t0057 a0001c0001t0066 a0001c0001t0067 a0001c0001t0073 a0001c0001t0075 a0001c0001t0078 a0001c0002t0024 a0001c0002t0035	a0001c0001t0001g0146 a0001c0001t0002g0133 a0001c0001t0002g0156 others(19): Show a0001c0001t0001g0146 a0001c0001t0002g0133 a0001c0001t0002g0156 a0001c0001t0004g0106 a0001c0001t0006g0013 a0001c0001t0009g0070 a0001c0001t0015g0034 a0001c0001t0016g0040 a0001c0001t0018g0085 a0001c0001t0019g0060 a0001c0001t0019g0067 a0001c0001t0039g0030 a0001c0001t0044g0038 a0001c0001t0050g0043 a0001c0001t0057g0046 a0001c0001t0066g0077 a0001c0001t0067g0074 a0001c0001t0073g0068 a0001c0001t0075g0072 a0001c0001t0078g0152 a0001c0002t0024g0176 a0001c0002t0035g0016	22	196	0.1122	-22	c.555 others(41): Show c.555-26745_555-26724delTATATATATATATATATATATA	EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	6/15			chr5	TogoVar
EBF1_chr5_158690920_159104916	158969896	GAAAGAAA others(15): Show GAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0026 a0001c0001t0040g0026	1	196	0.0051	-22	c.554 others(43): Show c.554+103478_554+103499delTTCTTTCTTTCTTTCTTTCTTT	EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	6/15			chr5	TogoVar
EBF1_chr5_158690920_159104916	159087371	CACATATA others(15): Show CACATATATATACACATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0059 a0001c0002t0007g0059	1	196	0.0051	-22	c.412 others(39): Show c.412-2654_412-2633delATATATATGTGTATATATATGT	EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	4/15			chr5	TogoVar
EBF2_chr8_25836725_26050413	25838188	GCTCTCTC others(15): Show GCTCTCTCTCTCTCTCTCTCTCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0010 a0001c0005t0010	a0001c0005t0010g0008 a0001c0005t0010g0008	1	220	0.0046	-22	c.63 others(33): Show c.6399_*6420delAGAGAGAGAGAGAGAGAGAGAG	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding		3536		chr8	TogoVar
EBF4_chr20_2687780_2765108	2705785	CCACACAC others(15): Show CCACACACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01109.hp2 HG02109.hp2 others(14): Show HG00735.hp1 HG01109.hp2 HG02109.hp2 HG02258.hp2 HG02280.hp2 HG02486.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02922.hp2 HG02976.hp2 HG03486.hp1 HG03579.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0003t0008 a0001c0003t0011 a0001c0004t0001 a0001c0005t0001	a0001c0001t0001g0261 a0001c0002t0001g0270 a0001c0003t0001g0263 others(14): Show a0001c0001t0001g0261 a0001c0002t0001g0270 a0001c0003t0001g0263 a0001c0003t0001g0279 a0001c0003t0001g0280 a0001c0003t0001g0281 a0001c0003t0001g0282 a0001c0003t0001g0283 a0001c0003t0001g0284 a0001c0003t0001g0285 a0001c0003t0001g0286 a0001c0003t0001g0287 a0001c0003t0008g0158 a0001c0003t0008g0373 a0001c0003t0011g0155 a0001c0004t0001g0278 a0001c0005t0001g0165	17	388	0.0438	-22	c.294 others(36): Show c.294+84_294+105delACACACACACACACACACACAC	EBF4	ENSG00000088881.22	transcript	ENST00000609451.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr20	TogoVar
EBPL_chr13_49655674_49696486	49690474	TGTGTGTG others(15): Show TGTGTGTGTGTGTGTGCGTGCGC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00597.hp1 others(102): Show HG00140.hp1 HG00323.hp2 HG00597.hp1 HG00609.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01243.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02148.hp1 HG02280.hp1 HG02293.hp1 HG02451.hp1 HG02486.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02818.hp1 HG02895.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03130.hp1 HG03239.hp1 HG03453.hp2 HG03491.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA18946.hp2 NA18947.hp2 NA18950.hp1 NA18961.hp1 NA18979.hp1 NA18980.hp2 NA18988.hp1 NA18999.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19055.hp2 NA19079.hp1 NA19082.hp2 NA19090.hp2 NA19091.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0008 a0001c0001t0001g0022 a0001c0001t0001g0023 others(82): Show a0001c0001t0001g0008 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0142 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0066	105	410	0.2561	-22	c.171 others(37): Show c.171+758_171+779delGCGCACGCACACACACACACAC	EBPL	ENSG00000123179.14	transcript	ENST00000242827.11	protein_coding	1/3			chr13	TogoVar
ECHDC1_chr6_127283712_127348609	127309480	AACACACA others(15): Show AACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01515.hp2 HG01891.hp1 others(3): Show HG00323.hp2 HG01515.hp2 HG01891.hp1 HG02735.hp2 HG02886.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0035 a0001c0001t0002g0227 a0001c0001t0002g0243 others(2): Show a0001c0001t0002g0035 a0001c0001t0002g0227 a0001c0001t0002g0243 a0001c0001t0002g0246 a0001c0001t0003g0201	6	358	0.0168	-22	c.497 others(39): Show c.497+5314_497+5335delGTGTGTGTGTGTGTGTGTGTGT	ECHDC1	ENSG00000093144.19	transcript	ENST00000454859.8	protein_coding	5/5			chr6	TogoVar
ECHDC2_chr1_52890910_52926740	52910352	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02922.hp2 HG06807.hp1 HG02622.hp2 HG02922.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212	3	314	0.0096	-22	c.277 others(39): Show c.277+1192_277+1213delAAAAAAAAAAAAAAAAAAAAAA	ECHDC2	ENSG00000121310.17	transcript	ENST00000371522.9	protein_coding	3/9			chr1	TogoVar
ECT2L_chr6_138791087_138909070	138873872	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00597.hp2 HG00621.hp2 others(8): Show HG00558.hp1 HG00597.hp2 HG00621.hp2 NA18945.hp1 NA18960.hp1 NA18964.hp2 NA18984.hp1 NA19006.hp2 NA19065.hp1 NA19068.hp1 NA19083.hp1	a0001 a0002 a0001 a0002	a0001c0022 a0002c0002 a0001c0022 a0002c0002	a0001c0022t0003 a0002c0002t0001 a0002c0002t0004 others(1): Show a0001c0022t0003 a0002c0002t0001 a0002c0002t0004 a0002c0002t0027	a0001c0022t0003g0142 a0002c0002t0001g0049 a0002c0002t0001g0053 others(8): Show a0001c0022t0003g0142 a0002c0002t0001g0049 a0002c0002t0001g0053 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0076 a0002c0002t0001g0081 a0002c0002t0001g0097 a0002c0002t0001g0295 a0002c0002t0004g0139 a0002c0002t0027g0062	11	326	0.0337	-22	c.157 others(41): Show c.1579-2578_1579-2557delGTGTGTGTGTGTGTGTGTGTGT	ECT2L	ENSG00000203734.13	transcript	ENST00000541398.7	protein_coding	13/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
EDARADD_chr1_236389286_236489930	236405903	TTCTTTCT others(15): Show TTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG04204.hp1 NA19062.hp1 HG04204.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0172 a0001c0003t0002g0004 a0001c0001t0001g0172 a0001c0003t0002g0004	2	294	0.0068	-22	c.62- others(37): Show c.62-3306_62-3285delTTTCTTTCTTTCTTTCTCTTTC	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EDA_chrX_69611113_70044472	69621899	CCTCATTT others(15): Show CCTCATTTTTAATTTTTTATAGG	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02055.hp1 HG02257.hp2 others(2): Show HG00735.hp2 HG02055.hp1 HG02257.hp2 HG02486.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 others(2): Show a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0002t0001g0030 a0001c0002t0001g0031	5	226	0.0221	-22	c.396 others(39): Show c.396+5213_396+5234delATAGGCTCATTTTTAATTTTTT	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
EDA_chrX_69611113_70044472	69878715	GACACACA others(15): Show GACACACACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01167.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0144 a0001c0001t0002g0145 a0001c0001t0001g0144 a0001c0001t0002g0145	2	226	0.0089	-22	c.397 others(41): Show c.397-78299_397-78278delACACACACACACACACACACAC	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
EDIL3_chr5_83935554_84389880	84141906	CATATATA others(15): Show CATATATATATATATATACACAT	C C	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	158	0.0063	-22	c.356 others(39): Show c.356-4574_356-4553delATGTGTATATATATATATATAT	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	4/10			chr5	TogoVar

Search by Variant

Search

Search Results (Total: 9631 hits)