Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DNAJC25_chr9_111626334_111659345	111641148	CGGCCAGC others(42): Show CGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCT	C C	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	410	0.0024	-49	c.337 others(66): Show c.337-5945_337-5897delATCCGGGAGGGAGGTGGGGGGGTCAGCC CCCCGCCTGGCCAGCCGCCCC	DNAJC25	ENSG00000059769.20	transcript	ENST00000313525.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
DNAJC25_chr9_111626334_111659345	111641540	ACCCCGCC others(42): Show ACCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCGGCC	A A	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	314	0.0032	-49	c.337 others(66): Show c.337-5545_337-5497delATCCGGGAGGGAGGTGGGGGGGTCGGCC CCCCGCCCGGCCAGCCGCCCC	DNAJC25	ENSG00000059769.20	transcript	ENST00000313525.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
DNAJC25_chr9_111626334_111659345	111641562	ATCCGGGA others(42): Show ATCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCG	A A	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	409	0.0024	-49	c.337 others(66): Show c.337-5521_337-5473delGGCCCCCCGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTC	DNAJC25	ENSG00000059769.20	transcript	ENST00000313525.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
DNAJC25_chr9_111626334_111659345	111641907	AGCCAGCC others(42): Show AGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGTTCAGCCCCCCGCCCG	A A	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19090.hp2 NA19007.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	2	410	0.0049	-49	c.337 others(66): Show c.337-5166_337-5118delTTCAGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGG	DNAJC25	ENSG00000059769.20	transcript	ENST00000313525.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
DNAJC3_chr13_95672139_95799988	95690605	AGGCGGGG others(42): Show AGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG	A A	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03139.hp2 HG02970.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0046 a0001c0001t0004 a0001c0001t0046	a0001c0001t0004g0220 a0001c0001t0046g0024 a0001c0001t0004g0220 a0001c0001t0046g0024	2	372	0.0054	-49	c.82+ others(66): Show c.82+13316_82+13364delCGGGCGGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGC	DNAJC3	ENSG00000102580.15	transcript	ENST00000602402.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr13	TogoVar
DNASE2B_chr1_84393484_84420018	84416689	CCAAAAAA others(42): Show CCAAAAAAGCATAAGTAATCCAAATAATATAAGAGAAAAATTTTAAAGTA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	424	0.0024	-49	c.18 others(60): Show c.1822_*1870delCAAAAAAGCATAAGTAATCCAAATAATATAAGAG AAAAATTTTAAAGTA	DNASE2B	ENSG00000137976.8	transcript	ENST00000370665.4	protein_coding		1672		chr1	TogoVar
DNMBP_chr10_99870577_100014947	99892136	TCTGCCCG others(42): Show TCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG03225.hp1 HG00738.hp2 HG03225.hp1	a0001 a0002 a0001 a0002	a0001c0006 a0002c0002 a0001c0006 a0002c0002	a0001c0006t0001 a0002c0002t0001 a0001c0006t0001 a0002c0002t0001	a0001c0006t0001g0244 a0002c0002t0001g0187 a0001c0006t0001g0244 a0002c0002t0001g0187	2	272	0.0074	-49	c.315 others(68): Show c.3156+2761_3156+2809delGGGGCTGACCCCCCCACCTCCCTCCT GGACGGGGCGGCTGGCCGGGCAG	DNMBP	ENSG00000107554.17	transcript	ENST00000324109.9	protein_coding	11/16			chr10	TogoVar
DNTTIP1_chr20_45786954_45816418	45800691	AAAAATAT others(42): Show AAAAATATATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0003 a0002c0003t0001g0003	1	368	0.0027	-49	c.373 others(64): Show c.373-381_373-333delAAATATATATATATATATATATATATATAT ATATATATATATATATATA	DNTTIP1	ENSG00000101457.13	transcript	ENST00000372622.8	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
DOC2B_chr17_137789_186650	141238	ACATGGGG others(42): Show ACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATAGGGGGGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0054 a0001c0002t0054	a0001c0002t0054g0214 a0001c0002t0054g0214	1	338	0.0030	-49	c.61 others(60): Show c.6154_*6202delGCCCCCCTATGTCCCCTCACCAGGTCCCCTCACC AAGGTCCCCCCCATG	DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding		1550		chr17	TogoVar
DOCK3_chr3_50669927_51389198	51249142	GAGGGAGG others(42): Show GAGGGAGGTGGGGGGGTCAGCCCCCCGCCAGGCCAGCTGCCCCATCCGGC	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA21309.hp2 HG02258.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0015 a0001c0001t0007 a0001c0001t0015	a0001c0001t0007g0091 a0001c0001t0015g0164 a0001c0001t0007g0091 a0001c0001t0015g0164	2	210	0.0095	-49	c.218 others(68): Show c.2184+2364_2184+2412delAGGCCAGCTGCCCCATCCGGCAGGGA GGTGGGGGGGTCAGCCCCCCGCC	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	22/52		INFO_REALIGN_3_PRIME	chr3	TogoVar
DSCAML1_chr11_117422772_117802216	117577458	TTTCCTTC others(42): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp1 HG02165.hp2 others(6): Show HG01109.hp1 HG01243.hp1 HG02165.hp2 HG02717.hp2 HG02886.hp2 HG02965.hp2 HG03516.hp2 HG04115.hp1 NA20300.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0008 a0001c0035 a0002c0002 others(3): Show a0001c0008 a0001c0035 a0002c0002 a0002c0004 a0002c0006 a0003c0038	a0001c0008t0001 a0001c0008t0002 a0001c0035t0001 others(4): Show a0001c0008t0001 a0001c0008t0002 a0001c0035t0001 a0002c0002t0002 a0002c0004t0001 a0002c0006t0001 a0003c0038t0002	a0001c0008t0001g0118 a0001c0008t0002g0099 a0001c0035t0001g0170 others(6): Show a0001c0008t0001g0118 a0001c0008t0002g0099 a0001c0035t0001g0170 a0002c0002t0002g0004 a0002c0002t0002g0011 a0002c0004t0001g0002 a0002c0006t0001g0052 a0002c0006t0001g0151 a0003c0038t0002g0128	9	170	0.0529	-49	c.512 others(68): Show c.512-44985_512-44937delGGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAA	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	3/32			chr11	TogoVar
DSG3_chr18_31442741_31483702	31457536	TTTCTTTC others(42): Show TTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0020 a0001c0003t0020	a0001c0003t0020g0197 a0001c0003t0020g0197	1	344	0.0029	-49	c.216 others(64): Show c.216+425_216+473delCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTCTTTCTTTCT	DSG3	ENSG00000134757.5	transcript	ENST00000257189.5	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr18	TogoVar
DTNB_chr2_25372243_25678577	25634203	TGCCCGGC others(42): Show TGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(77): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01074.hp1 HG01074.hp2 HG01123.hp1 HG01169.hp1 HG01192.hp2 HG01243.hp1 HG01258.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01981.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02148.hp1 HG02148.hp2 HG02258.hp1 HG02293.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02615.hp1 HG02735.hp1 HG02818.hp1 HG02895.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG03041.hp2 HG03139.hp1 HG03540.hp1 HG03654.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG04184.hp1 HG06807.hp1 NA18951.hp1 NA18960.hp1 NA18960.hp2 NA18971.hp1 NA18971.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp2 NA19000.hp1 NA19005.hp2 NA19011.hp1 NA19011.hp2 NA19057.hp1 NA19065.hp1 NA19065.hp2 NA19079.hp2 NA19083.hp1 NA19083.hp2 NA19088.hp1 NA19090.hp1 NA20752.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004 a0005c0005	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0003c0004t0001 a0005c0005t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0085 others(77): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0002t0001g0002 a0001c0002t0001g0092 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0103 a0001c0002t0001g0105 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0118 a0001c0002t0001g0121 a0001c0002t0001g0123 a0001c0002t0001g0142 a0001c0002t0001g0152 a0001c0002t0001g0158 a0001c0002t0001g0159 a0002c0003t0001g0135 a0003c0004t0001g0060 a0005c0005t0001g0106	80	166	0.4819	-49	c.148 others(66): Show c.148+4762_148+4810delGGGGGGCTGACCCCCCCACCTCCCTCCC GGACAGGGCGGCTGGCCGGGC	DTNB	ENSG00000138101.20	transcript	ENST00000406818.8	protein_coding	3/20			chr2	TogoVar
DTNB_chr2_25372243_25678577	25634220	TGTCCGGG others(42): Show TGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01123.hp2 HG02886.hp1 others(1): Show HG00738.hp2 HG01123.hp2 HG02886.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0040 a0001c0001t0001g0054 a0001c0001t0001g0069 others(1): Show a0001c0001t0001g0040 a0001c0001t0001g0054 a0001c0001t0001g0069 a0001c0001t0002g0001	4	162	0.0247	-49	c.148 others(66): Show c.148+4745_148+4793delGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGAC	DTNB	ENSG00000138101.20	transcript	ENST00000406818.8	protein_coding	3/20			chr2	TogoVar
DYM_chr18_49031387_49465645	49080115	ACCCCCCC others(42): Show ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGGGGGGGCTGAC	A A	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0179 a0001c0001t0006g0179	1	288	0.0035	-49	c.202 others(70): Show c.2025+17238_2025+17286delGTCAGCCCCCCCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGG	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	17/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49080349	ACTCCCTC others(42): Show ACTCCCTCCCGGACGGGGTGGCTGGCCGGGCGAGGGGCTGAGCCCCCCAC	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0239 a0001c0001t0020g0239	1	288	0.0035	-49	c.202 others(70): Show c.2025+17004_2025+17052delGTGGGGGGCTCAGCCCCTCGCCCG GCCAGCCACCCCGTCCGGGAGGGAG	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	17/17			chr18	TogoVar
DYNC1LI2_chr16_66715893_66756609	66756063	AAACAAAT others(42): Show AAACAAATATTTTCTGGTGATGATTACTAGGAAATAGTTTTCTTTAAGCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0240 a0001c0001t0002g0240	1	338	0.0030	-49	c.-45 others(60): Show c.-4521_-4473delAGCTTAAAGAAAACTATTTCCTAGTAATCATCAC CAGAAAATATTTGTT	DYNC1LI2	ENSG00000135720.13	transcript	ENST00000258198.7	protein_coding		4455		chr16	TogoVar
EBF1_chr5_158690920_159104916	158942871	GGGAGGGG others(42): Show GGGAGGGGAGAGGAGAGAAAGAGAAAAGATAGTAGAAGAGGGAGGGGGAA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00423.hp1 others(93): Show HG00140.hp2 HG00408.hp1 HG00423.hp1 HG00544.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01167.hp2 HG01168.hp2 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01515.hp1 HG01515.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02074.hp2 HG02129.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02486.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02647.hp1 HG02717.hp1 HG02818.hp2 HG02896.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG03710.hp2 NA18522.hp1 NA18906.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18949.hp1 NA18954.hp1 NA18963.hp1 NA18966.hp2 NA18969.hp2 NA19009.hp1 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19068.hp1 NA19068.hp2 NA19079.hp2 NA19084.hp1 NA19085.hp1 NA19090.hp1 NA19090.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(59): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0024 a0001c0001t0027 a0001c0001t0029 a0001c0001t0032 a0001c0001t0039 a0001c0001t0047 a0001c0001t0052 a0001c0001t0055 a0001c0001t0056 a0001c0001t0058 a0001c0001t0063 a0001c0001t0068 a0001c0001t0071 a0001c0001t0072 a0001c0001t0077 a0001c0001t0079 a0001c0001t0085 a0001c0001t0088 a0001c0001t0095 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0009 a0001c0002t0012 a0001c0002t0013 a0001c0002t0018 a0001c0002t0024 a0001c0002t0026 a0001c0002t0034 a0001c0002t0035 a0001c0002t0036 a0001c0002t0038 a0001c0002t0041 a0001c0002t0048 a0001c0002t0059 a0001c0002t0060 a0001c0002t0061 a0001c0002t0062 a0001c0002t0064 a0001c0002t0076 a0001c0002t0081 a0001c0002t0083 a0001c0002t0084 a0001c0002t0089 a0001c0002t0091 a0001c0004t0004	a0001c0001t0001g0136 a0001c0001t0001g0142 a0001c0001t0001g0180 others(93): Show a0001c0001t0001g0136 a0001c0001t0001g0142 a0001c0001t0001g0180 a0001c0001t0002g0121 a0001c0001t0002g0135 a0001c0001t0002g0150 a0001c0001t0002g0155 a0001c0001t0003g0105 a0001c0001t0003g0148 a0001c0001t0005g0157 a0001c0001t0006g0018 a0001c0001t0006g0019 a0001c0001t0007g0061 a0001c0001t0007g0066 a0001c0001t0008g0189 a0001c0001t0010g0065 a0001c0001t0010g0078 a0001c0001t0010g0081 a0001c0001t0011g0120 a0001c0001t0011g0144 a0001c0001t0012g0021 a0001c0001t0015g0034 a0001c0001t0016g0036 a0001c0001t0018g0085 a0001c0001t0024g0174 a0001c0001t0027g0169 a0001c0001t0029g0005 a0001c0001t0032g0006 a0001c0001t0039g0030 a0001c0001t0047g0039 a0001c0001t0052g0045 a0001c0001t0055g0047 a0001c0001t0056g0048 a0001c0001t0058g0051 a0001c0001t0063g0057 a0001c0001t0068g0062 a0001c0001t0071g0064 a0001c0001t0072g0069 a0001c0001t0077g0088 a0001c0001t0079g0149 a0001c0001t0085g0164 a0001c0001t0088g0190 a0001c0001t0095g0196 a0001c0002t0001g0095 a0001c0002t0001g0109 a0001c0002t0001g0131 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0141 a0001c0002t0001g0158 a0001c0002t0001g0161 a0001c0002t0001g0170 a0001c0002t0002g0089 a0001c0002t0002g0173 a0001c0002t0003g0090 a0001c0002t0003g0093 a0001c0002t0003g0130 a0001c0002t0003g0151 a0001c0002t0005g0115 a0001c0002t0005g0122 a0001c0002t0005g0128 a0001c0002t0005g0143 a0001c0002t0005g0165 a0001c0002t0006g0015 a0001c0002t0006g0017 a0001c0002t0006g0020 a0001c0002t0006g0025 a0001c0002t0007g0059 a0001c0002t0007g0076 a0001c0002t0007g0083 a0001c0002t0007g0084 a0001c0002t0009g0079 a0001c0002t0012g0023 a0001c0002t0013g0001 a0001c0002t0013g0002 a0001c0002t0018g0086 a0001c0002t0024g0176 a0001c0002t0026g0103 a0001c0002t0034g0008 a0001c0002t0035g0016 a0001c0002t0036g0012 a0001c0002t0038g0014 a0001c0002t0041g0028 a0001c0002t0048g0032 a0001c0002t0059g0052 a0001c0002t0060g0053 a0001c0002t0061g0055 a0001c0002t0062g0054 a0001c0002t0064g0056 a0001c0002t0076g0087 a0001c0002t0081g0140 a0001c0002t0083g0118 a0001c0002t0084g0111 a0001c0002t0089g0187 a0001c0002t0091g0182 a0001c0004t0004g0171	96	196	0.4898	-49	c.555 others(70): Show c.555-102810_555-102762delTTCCCCCTCCCTCTTCTACTATCT TTTCTCTTTCTCTCCTCTCCCCTCC	EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	6/15			chr5	TogoVar
EBF3_chr10_129830233_129969274	129919979	GAGTATCT others(42): Show GAGTATCTCCAGGAGGGCCATAAACCCGCCCCACTGTGCGGTCTAGGGCC	G G	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0151 a0001c0001t0002g0151	1	334	0.0030	-49	c.554 others(68): Show c.554+37230_554+37278delGGCCCTAGACCGCACAGTGGGGCGGG TTTATGGCCCTCCTGGAGATACT	EBF3	ENSG00000108001.16	transcript	ENST00000440978.2	protein_coding	6/16			chr10	TogoVar
EBF3_chr10_129830233_129969274	129920060	GCTGTGCG others(42): Show GCTGTGCGGTCTAGGGCGAGTATCTCCAGGAGGGCCACAAACCCGCCCCA	G G	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0263 a0001c0001t0020g0263	1	333	0.0030	-49	c.554 others(68): Show c.554+37149_554+37197delTGGGGCGGGTTTGTGGCCCTCCTGGA GATACTCGCCCTAGACCGCACAG	EBF3	ENSG00000108001.16	transcript	ENST00000440978.2	protein_coding	6/16			chr10	TogoVar
EBF3_chr10_129830233_129969274	129920077	GAGTATCT others(42): Show GAGTATCTCCAGGAGGGCCACAAACCCGCCCCACTGTGCGGTCTAGGGCC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00323.hp1 others(190): Show HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01243.hp1 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02735.hp2 HG02738.hp1 HG02896.hp1 HG03041.hp1 HG03130.hp1 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03491.hp1 HG03579.hp1 HG03654.hp2 HG03710.hp2 HG03831.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04228.hp1 HG06807.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp2 NA18992.hp2 NA18998.hp1 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(38): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0021 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0001t0031 a0001c0001t0032 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0045 a0001c0001t0051 a0001c0001t0055 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0008 a0001c0002t0009 a0001c0002t0043 a0001c0002t0044 a0001c0002t0046 a0001c0004t0003 a0001c0005t0003 a0001c0006t0002	a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0034 others(190): Show a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0034 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0057 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0087 a0001c0001t0001g0110 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0140 a0001c0001t0001g0155 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0226 a0001c0001t0001g0236 a0001c0001t0001g0249 a0001c0001t0001g0253 a0001c0001t0001g0258 a0001c0001t0001g0261 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0002g0006 a0001c0001t0002g0014 a0001c0001t0002g0018 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0065 a0001c0001t0002g0068 a0001c0001t0002g0073 a0001c0001t0002g0079 a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0096 a0001c0001t0002g0103 a0001c0001t0002g0119 a0001c0001t0002g0123 a0001c0001t0002g0127 a0001c0001t0002g0143 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0168 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0204 a0001c0001t0002g0206 a0001c0001t0002g0214 a0001c0001t0002g0221 a0001c0001t0002g0223 a0001c0001t0002g0232 a0001c0001t0002g0245 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0259 a0001c0001t0003g0013 a0001c0001t0003g0016 a0001c0001t0003g0026 a0001c0001t0003g0033 a0001c0001t0003g0053 a0001c0001t0003g0058 a0001c0001t0003g0069 a0001c0001t0003g0072 a0001c0001t0003g0084 a0001c0001t0003g0089 a0001c0001t0003g0097 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0116 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0128 a0001c0001t0003g0139 a0001c0001t0003g0162 a0001c0001t0003g0187 a0001c0001t0003g0207 a0001c0001t0003g0210 a0001c0001t0003g0217 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0238 a0001c0001t0003g0240 a0001c0001t0003g0318 a0001c0001t0004g0019 a0001c0001t0004g0024 a0001c0001t0004g0045 a0001c0001t0004g0048 a0001c0001t0004g0070 a0001c0001t0004g0107 a0001c0001t0004g0161 a0001c0001t0004g0172 a0001c0001t0004g0184 a0001c0001t0004g0200 a0001c0001t0004g0211 a0001c0001t0004g0215 a0001c0001t0004g0227 a0001c0001t0004g0231 a0001c0001t0004g0237 a0001c0001t0004g0250 a0001c0001t0005g0012 a0001c0001t0005g0028 a0001c0001t0005g0040 a0001c0001t0005g0093 a0001c0001t0005g0137 a0001c0001t0005g0138 a0001c0001t0005g0164 a0001c0001t0005g0228 a0001c0001t0006g0029 a0001c0001t0006g0037 a0001c0001t0006g0086 a0001c0001t0006g0088 a0001c0001t0006g0167 a0001c0001t0007g0008 a0001c0001t0007g0176 a0001c0001t0007g0202 a0001c0001t0007g0268 a0001c0001t0007g0276 a0001c0001t0008g0010 a0001c0001t0008g0047 a0001c0001t0008g0064 a0001c0001t0008g0080 a0001c0001t0008g0152 a0001c0001t0008g0188 a0001c0001t0008g0212 a0001c0001t0008g0244 a0001c0001t0008g0248 a0001c0001t0009g0030 a0001c0001t0009g0060 a0001c0001t0009g0132 a0001c0001t0009g0183 a0001c0001t0012g0117 a0001c0001t0013g0039 a0001c0001t0013g0109 a0001c0001t0013g0115 a0001c0001t0014g0165 a0001c0001t0014g0173 a0001c0001t0015g0130 a0001c0001t0015g0235 a0001c0001t0018g0061 a0001c0001t0021g0148 a0001c0001t0021g0156 a0001c0001t0025g0333 a0001c0001t0026g0336 a0001c0001t0027g0001 a0001c0001t0029g0078 a0001c0001t0031g0160 a0001c0001t0032g0213 a0001c0001t0037g0270 a0001c0001t0038g0230 a0001c0001t0039g0222 a0001c0001t0045g0234 a0001c0001t0051g0319 a0001c0001t0055g0335 a0001c0002t0001g0286 a0001c0002t0002g0285 a0001c0002t0002g0294 a0001c0002t0002g0295 a0001c0002t0002g0297 a0001c0002t0002g0298 a0001c0002t0002g0301 a0001c0002t0002g0313 a0001c0002t0003g0288 a0001c0002t0003g0292 a0001c0002t0003g0293 a0001c0002t0003g0305 a0001c0002t0003g0308 a0001c0002t0003g0310 a0001c0002t0004g0287 a0001c0002t0004g0309 a0001c0002t0005g0296 a0001c0002t0005g0300 a0001c0002t0006g0299 a0001c0002t0008g0306 a0001c0002t0009g0315 a0001c0002t0043g0290 a0001c0002t0044g0291 a0001c0002t0046g0289 a0001c0004t0003g0241 a0001c0005t0003g0317 a0001c0006t0002g0314	193	330	0.5848	-49	c.554 others(68): Show c.554+37132_554+37180delGGCCCTAGACCGCACAGTGGGGCGGG TTTGTGGCCCTCCTGGAGATACT	EBF3	ENSG00000108001.16	transcript	ENST00000440978.2	protein_coding	6/16			chr10	TogoVar
EBF3_chr10_129830233_129969274	129920158	GCTGTGCA others(42): Show GCTGTGCAGTCTAGGGCGAGTATCTCCAGGAGGGCCACAAACCCGCCCCA	G G	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0118 a0001c0001t0004g0118	1	336	0.0030	-49	c.554 others(68): Show c.554+37051_554+37099delTGGGGCGGGTTTGTGGCCCTCCTGGA GATACTCGCCCTAGACTGCACAG	EBF3	ENSG00000108001.16	transcript	ENST00000440978.2	protein_coding	6/16			chr10	TogoVar
EBF3_chr10_129830233_129969274	129920362	GTCTAGGG others(42): Show GTCTAGGGCGAATATCTGCAGGAGGGCCACAAACCCACCCCGCTGTGTGA	G G	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02040.hp2 HG00673.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0162 a0001c0001t0004g0045 a0001c0001t0003g0162 a0001c0001t0004g0045	2	336	0.0060	-49	c.554 others(68): Show c.554+36847_554+36895delTCACACAGCGGGGTGGGTTTGTGGCC CTCCTGCAGATATTCGCCCTAGA	EBF3	ENSG00000108001.16	transcript	ENST00000440978.2	protein_coding	6/16			chr10	TogoVar
EDIL3_chr5_83935554_84389880	84312550	TGGCGGGG others(42): Show TGGCGGGGGGCTGACTCCCCCACCACCCTCCCGGACGGGGCGGCTGGCCG	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03041.hp2 HG03486.hp2 HG01891.hp1 HG03041.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0003t0001 a0001c0004t0003 a0001c0001t0001 a0001c0003t0001 a0001c0004t0003	a0001c0001t0001g0103 a0001c0003t0001g0151 a0001c0004t0003g0152 a0001c0001t0001g0103 a0001c0003t0001g0151 a0001c0004t0003g0152	3	156	0.0192	-49	c.68- others(66): Show c.68-58387_68-58339delCGGCCAGCCGCCCCGTCCGGGAGGGTGG TGGGGGAGTCAGCCCCCCGCC	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	1/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84312565	TCCCCCAC others(42): Show TCCCCCACCACCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC	T T	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0010 a0001c0004t0010	a0001c0004t0010g0156 a0001c0004t0010g0157 a0001c0004t0010g0156 a0001c0004t0010g0157	2	155	0.0129	-49	c.68- others(66): Show c.68-58402_68-58354delGGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGGTGGTGGGGG	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	1/10			chr5	TogoVar
EEPD1_chr7_36148254_36306538	36197213	CGGCAGCC others(42): Show CGGCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGGCCCCCGCCCG	C C	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0222 a0001c0001t0004g0222	1	344	0.0029	-49	c.879 others(68): Show c.879-41764_879-41716delACCCCGTCCGGGAGGGAGGTGGGGGG GTCAGGCCCCCGCCCGGGCAGCC	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
EEPD1_chr7_36148254_36306538	36197221	ACCCCGTC others(42): Show ACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGGCCCCCGCCCGGGCAGCCG	A A	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG03139.hp1 HG03195.hp1 others(6): Show HG02083.hp1 HG03139.hp1 HG03195.hp1 NA18942.hp1 NA18967.hp2 NA18978.hp2 NA18979.hp2 NA19000.hp2 NA19004.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0013 a0001c0001 a0002c0013	a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 others(4): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0050 a0002c0013t0032	a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0007g0023 others(6): Show a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0007g0023 a0001c0001t0008g0224 a0001c0001t0012g0185 a0001c0001t0013g0219 a0001c0001t0013g0234 a0001c0001t0050g0223 a0002c0013t0032g0066	9	344	0.0262	-49	c.879 others(68): Show c.879-41733_879-41685delGCCCCCGCCCGGGCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCAG	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
EEPD1_chr7_36148254_36306538	36197252	GCCCCCGC others(42): Show GCCCCCGCCCGGGCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGC	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02451.hp2 NA18906.hp2 HG01243.hp1 HG02451.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0033 a0001c0004t0025 a0001c0004t0058 a0001c0001t0033 a0001c0004t0025 a0001c0004t0058	a0001c0001t0033g0065 a0001c0004t0025g0059 a0001c0004t0058g0314 a0001c0001t0033g0065 a0001c0004t0025g0059 a0001c0004t0058g0314	3	344	0.0087	-49	c.879 others(68): Show c.879-41721_879-41673delGCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGG	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
EFCAB13_chr17_47318955_47446312	47398030	TGCCCGGC others(42): Show TGCCCGGCCAGCCGCTCCGTCCGGGAGGGAGGTTGGGGGGTCAGCCCGCC	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02717.hp2 HG02895.hp2 others(11): Show HG02615.hp1 HG02717.hp2 HG02895.hp2 HG02922.hp2 HG03041.hp1 HG03139.hp2 HG03471.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp2 NA19043.hp2 NA19240.hp2 NA20300.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0010 a0002c0002 a0002c0010	a0002c0002t0001 a0002c0010t0001 a0002c0002t0001 a0002c0010t0001	a0002c0002t0001g0010 a0002c0002t0001g0262 a0002c0002t0001g0263 others(11): Show a0002c0002t0001g0010 a0002c0002t0001g0262 a0002c0002t0001g0263 a0002c0002t0001g0266 a0002c0002t0001g0347 a0002c0002t0001g0348 a0002c0002t0001g0349 a0002c0002t0001g0350 a0002c0010t0001g0265 a0002c0010t0001g0267 a0002c0010t0001g0268 a0002c0010t0001g0269 a0002c0010t0001g0270 a0002c0010t0001g0271	14	354	0.0395	-49	c.194 others(68): Show c.1945+2068_1945+2116delTCCGTCCGGGAGGGAGGTTGGGGGGT CAGCCCGCCGCCCGGCCAGCCGC	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
EIF3H_chr8_116637130_116760823	116679746	GTCCGGGA others(42): Show GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCA	G G	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0015 a0001c0001t0020g0015	1	334	0.0030	-49	c.290 others(68): Show c.290-20815_290-20767delTGGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGA	EIF3H	ENSG00000147677.12	transcript	ENST00000521861.6	protein_coding	2/7			chr8	TogoVar
EIF4G3_chr1_20801479_21181897	20815843	CGCCCGGC others(42): Show CGCCCGGCCAGCCGCCCCGTCCGGGAGGGGGGAGGGGGGGTCAGCCCCCT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02976.hp2 HG03041.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0194 a0001c0001t0009g0195 a0001c0001t0009g0196 a0001c0001t0009g0194 a0001c0001t0009g0195 a0001c0001t0009g0196	3	310	0.0097	-49	c.451 others(68): Show c.4515+1500_4515+1548delAGGGGGCTGACCCCCCCTCCCCCCTC CCGGACGGGGCGGCTGGCCGGGC	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	34/36			chr1	TogoVar
EIPR1_chr2_3183970_3382818	3365948	AGTCCGGG others(42): Show AGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00621.hp2 others(63): Show HG00280.hp2 HG00323.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01109.hp1 HG01175.hp1 HG01243.hp2 HG01256.hp2 HG01346.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp2 HG02257.hp1 HG02273.hp2 HG02280.hp2 HG02572.hp1 HG02572.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02818.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp2 HG03130.hp1 HG03209.hp1 HG03225.hp2 HG03239.hp2 HG03490.hp2 HG03492.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03831.hp2 HG03834.hp2 HG04115.hp1 HG04228.hp1 NA18906.hp1 NA18945.hp2 NA18947.hp1 NA19005.hp2 NA19010.hp2 NA19043.hp2 NA19066.hp2 NA19084.hp1 NA19090.hp1 NA20300.hp1 NA20752.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0002t0002 a0001c0004t0001	a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0023 others(63): Show a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0002g0022 a0001c0001t0002g0027 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0069 a0001c0001t0002g0073 a0001c0001t0002g0076 a0001c0001t0002g0096 a0001c0001t0002g0114 a0001c0001t0003g0019 a0001c0001t0003g0021 a0001c0001t0003g0025 a0001c0001t0003g0028 a0001c0001t0003g0036 a0001c0001t0003g0038 a0001c0001t0003g0046 a0001c0001t0003g0063 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0070 a0001c0001t0003g0131 a0001c0001t0004g0026 a0001c0001t0004g0042 a0001c0001t0007g0249 a0001c0001t0007g0250 a0001c0001t0008g0075 a0001c0001t0009g0248 a0001c0002t0002g0020 a0001c0004t0001g0074	66	248	0.2661	-49	c.43- others(66): Show c.43-11364_43-11316delGGGGTGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGAC	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	1/8			chr2	TogoVar
EMSY_chr11_76440018_76558031	76494687	CTTCCTTC others(42): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 NA18947.hp2 NA19076.hp1 HG00280.hp1 NA18947.hp2 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302	3	357	0.0084	-49	c.115 others(68): Show c.1154-1513_1154-1465delCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTTCCTTCCTTCCTT	EMSY	ENSG00000158636.17	transcript	ENST00000695367.1	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
ENOSF1_chr18_665318_717630	666974	GAGATGGA others(42): Show GAGATGGAGATGGTGATGGTGATGGAGATGGTGATGGTGATGGAGATGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0202 a0001c0001t0002g0202	1	366	0.0027	-49	c.72 others(60): Show c.7282_*7330delTCCATCTCCATCACCATCACCATCTCCATCACCA TCACCATCTCCATCT	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		3343		chr18	TogoVar
ENTPD4_chr8_23424162_23462647	23454876	TAAATGGT others(42): Show TAAATGGTAATTTGATCTTCAAATGTAAACTCCAATTGTCCTTCTAGCTA	T T	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	1	410	0.0024	-49	c.-98 others(66): Show c.-98+2632_-98+2680delTAGCTAGAAGGACAATTGGAGTTTACAT TTGAAGATCAAATTACCATTT	ENTPD4	ENSG00000197217.13	transcript	ENST00000358689.9	protein_coding	1/12			chr8	TogoVar
EPB41L4A_chr5_112157619_112424277	112339489	TATATATC others(42): Show TATATATCTATATATATATATAGATATATAGATATATATCTATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0094 a0002c0003t0003g0094	1	224	0.0045	-49	c.100 others(68): Show c.100-32048_100-32000delTATATATATAGATATATATCTATATA TCTATATATATATATAGATATAT	EPB41L4A	ENSG00000129595.14	transcript	ENST00000261486.6	protein_coding	1/22			chr5	TogoVar
EPB41L4A_chr5_112157619_112424277	112339491	TATATCTA others(42): Show TATATCTATATATATATATAGATATATAGATATATATCTATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0010 a0007c0009t0010	a0007c0009t0010g0050 a0007c0009t0010g0050	1	226	0.0044	-49	c.100 others(68): Show c.100-32050_100-32002delTATATATATATAGATATATATCTATA TATCTATATATATATATAGATAT	EPB41L4A	ENSG00000129595.14	transcript	ENST00000261486.6	protein_coding	1/22			chr5	TogoVar
EPHA2_chr1_16119337_16161069	16136666	GAAGAAAA others(42): Show GAAGAAAAGAAGAAGAAAGAAGAAGAGGAAGAAGAAGAAGAAGAAGAAAA	G G	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA20300.hp1 NA18951.hp2 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0001 a0001c0004t0001 a0001c0003t0001 a0001c0004t0001	a0001c0003t0001g0007 a0001c0004t0001g0106 a0001c0003t0001g0007 a0001c0004t0001g0106	2	302	0.0066	-49	c.131 others(66): Show c.1313-945_1313-897delTTTTCTTCTTCTTCTTCTTCTTCCTCTT CTTCTTTCTTCTTCTTTTCTT	EPHA2	ENSG00000142627.13	transcript	ENST00000358432.8	protein_coding	5/16			chr1	TogoVar
ERBIN_chr5_65921575_66087546	65940399	TCGTCCGG others(42): Show TCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCTGCCC	T T	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	288	0.0035	-49	c.-58 others(68): Show c.-58+13621_-58+13669delCCCCCCGCCCGGCCAGCTGCCCCGTC CGGGAGGGAGGTGGGGGGGTCAG	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERBIN_chr5_65921575_66087546	65977200	CCCCCCCC others(42): Show CCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGA	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01109.hp2 HG01243.hp2 others(5): Show HG00621.hp2 HG01109.hp2 HG01243.hp2 HG02451.hp1 HG02965.hp1 HG03225.hp2 HG03540.hp2 HG06807.hp1	a0003 a0005 a0003 a0005	a0003c0004 a0005c0006 a0003c0004 a0005c0006	a0003c0004t0001 a0005c0006t0007 a0005c0006t0015 others(1): Show a0003c0004t0001 a0005c0006t0007 a0005c0006t0015 a0005c0006t0016	a0003c0004t0001g0136 a0005c0006t0007g0220 a0005c0006t0007g0221 others(5): Show a0003c0004t0001g0136 a0005c0006t0007g0220 a0005c0006t0007g0221 a0005c0006t0007g0224 a0005c0006t0007g0225 a0005c0006t0007g0230 a0005c0006t0015g0223 a0005c0006t0016g0226	8	304	0.0263	-49	c.-57 others(68): Show c.-57-11364_-57-11316delTGGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGA	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERICH1_chr8_659200_736224	695857	GCTCGCTC others(42): Show GCTCGCTCCTCTCACCCTCCACTCCTCTCCTTCCTCCCCATCAGCCTGCA	G G	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01981.hp2 HG02572.hp2 others(4): Show HG01099.hp1 HG01981.hp2 HG02572.hp2 HG03098.hp1 HG03486.hp2 HG03490.hp1 NA20129.hp2	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0001c0009 a0002c0005 others(1): Show a0001c0001 a0001c0009 a0002c0005 a0010c0012	a0001c0001t0001 a0001c0001t0002 a0001c0009t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0009t0001 a0002c0005t0001 a0002c0005t0002 a0010c0012t0001	a0001c0001t0001g0039 a0001c0001t0002g0247 a0001c0009t0001g0118 others(4): Show a0001c0001t0001g0039 a0001c0001t0002g0247 a0001c0009t0001g0118 a0002c0005t0001g0234 a0002c0005t0001g0235 a0002c0005t0002g0285 a0010c0012t0001g0117	7	371	0.0189	-49	c.170 others(66): Show c.170-3294_170-3246delTGCAGGCTGATGGGGAGGAAGGAGAGGA GTGGAGGGTGAGAGGAGCGAG	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH1_chr8_659200_736224	696120	GCTGGCTC others(42): Show GCTGGCTCCTCTCACCCTCCACTCCTCTCCTTCCTCCCCATCAGCCTGCA	G G	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02572.hp2 NA20129.hp2 HG01981.hp2 HG02572.hp2 NA20129.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0001c0009 a0010c0012 a0001c0001 a0001c0009 a0010c0012	a0001c0001t0001 a0001c0009t0001 a0010c0012t0001 a0001c0001t0001 a0001c0009t0001 a0010c0012t0001	a0001c0001t0001g0039 a0001c0009t0001g0118 a0010c0012t0001g0117 a0001c0001t0001g0039 a0001c0009t0001g0118 a0010c0012t0001g0117	3	374	0.0080	-49	c.170 others(66): Show c.170-3557_170-3509delTGCAGGCTGATGGGGAGGAAGGAGAGGA GTGGAGGGTGAGAGGAGCCAG	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH1_chr8_659200_736224	696242	CCACTCCT others(42): Show CCACTCCTCTCCTTCCTCCCCATCAGCCTGCGCTCGCTCCTCTCACCCTT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG00544.hp2 others(94): Show HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00741.hp1 HG01243.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02145.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02622.hp2 HG02630.hp2 HG02717.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02897.hp1 HG02976.hp1 HG03017.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03704.hp2 HG03831.hp1 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18944.hp1 NA18945.hp2 NA18951.hp1 NA18955.hp2 NA18960.hp2 NA18962.hp2 NA18967.hp1 NA18969.hp1 NA18970.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18990.hp2 NA18992.hp1 NA18994.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19060.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp2 NA19079.hp1 NA19080.hp2 NA19084.hp1 NA19087.hp2 NA19089.hp2 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20805.hp2	a0001 a0006 a0009 a0001 a0006 a0009	a0001c0001 a0001c0003 a0006c0008 others(1): Show a0001c0001 a0001c0003 a0006c0008 a0009c0010	a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 a0006c0008t0001 a0009c0010t0002	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 others(89): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0096 a0001c0001t0001g0120 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0216 a0001c0001t0001g0220 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0002g0253 a0001c0001t0002g0353 a0001c0001t0002g0354 a0001c0001t0002g0356 a0001c0001t0002g0358 a0001c0001t0002g0361 a0001c0001t0002g0362 a0001c0001t0002g0363 a0001c0001t0002g0365 a0001c0001t0002g0366 a0001c0003t0002g0251 a0006c0008t0001g0169 a0006c0008t0001g0175 a0009c0010t0002g0357	97	368	0.2636	-49	c.170 others(66): Show c.170-3679_170-3631delAAGGGTGAGAGGAGCGAGCGCAGGCTGA TGGGGAGGAAGGAGAGGAGTG	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH1_chr8_659200_736224	696699	TCTCCACT others(42): Show TCTCCACTCCTCTCCTTCCTCCCCATCAGCCTGCGCTCGCTCCTCTCACC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03834.hp2 HG02280.hp2 HG03834.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0005 a0001c0003 a0002c0005	a0001c0003t0002 a0002c0005t0001 a0001c0003t0002 a0002c0005t0001	a0001c0003t0002g0309 a0002c0005t0001g0236 a0001c0003t0002g0309 a0002c0005t0001g0236	2	373	0.0054	-49	c.170 others(66): Show c.170-4136_170-4088delGGTGAGAGGAGCGAGCGCAGGCTGATGG GGAGGAAGGAGAGGAGTGGAG	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH1_chr8_659200_736224	731854	CGGCCCCC others(42): Show CGGCCCCCAGGCACCTGCAGGATACAAGGAATGGCCAGGGCGGTGTCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00642.hp1 HG00741.hp2 others(37): Show HG00323.hp2 HG00642.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01516.hp2 HG01517.hp1 HG02040.hp2 HG02071.hp1 HG02135.hp1 HG02602.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG03490.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG06807.hp2 NA18977.hp1 NA20752.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0002c0005 a0004c0006	a0001c0001t0002 a0001c0002t0002 a0001c0003t0002 others(2): Show a0001c0001t0002 a0001c0002t0002 a0001c0003t0002 a0002c0005t0002 a0004c0006t0002	a0001c0001t0002g0010 a0001c0001t0002g0245 a0001c0001t0002g0248 others(36): Show a0001c0001t0002g0010 a0001c0001t0002g0245 a0001c0001t0002g0248 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0352 a0001c0002t0002g0264 a0001c0002t0002g0269 a0001c0002t0002g0280 a0001c0003t0002g0278 a0001c0003t0002g0279 a0002c0005t0002g0285 a0004c0006t0002g0249 a0004c0006t0002g0250	40	372	0.1075	-49	c.-74 others(58): Show c.-742_-694delAGGGACACCGCCCTGGCCATTCCTTGTATCCTGCAG GTGCCTGGGGGCC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding		631		chr8	TogoVar
ERICH5_chr8_98059568_98098609	98073496	ATATATAT others(42): Show ATATATATATATATATATATGTATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00544.hp2 HG00609.hp1 others(25): Show HG00099.hp2 HG00544.hp2 HG00609.hp1 HG00741.hp2 HG01074.hp1 HG01175.hp2 HG01192.hp2 HG01891.hp2 HG02135.hp1 HG02523.hp2 HG02723.hp2 HG03195.hp2 HG03654.hp1 HG03710.hp1 HG03710.hp2 HG04199.hp2 NA18522.hp2 NA18943.hp1 NA18953.hp1 NA18965.hp1 NA18970.hp2 NA18979.hp2 NA18986.hp2 NA18988.hp1 NA19000.hp1 NA19005.hp2 NA19057.hp1 NA20805.hp2	a0001 a0012 a0001 a0012	a0001c0001 a0012c0007 a0001c0001 a0012c0007	a0001c0001t0001 a0001c0001t0002 a0012c0007t0002 a0001c0001t0001 a0001c0001t0002 a0012c0007t0002	a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0100 others(25): Show a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0100 a0001c0001t0001g0126 a0001c0001t0001g0138 a0001c0001t0001g0142 a0001c0001t0001g0378 a0001c0001t0001g0394 a0001c0001t0001g0395 a0001c0001t0001g0396 a0001c0001t0001g0397 a0001c0001t0001g0398 a0001c0001t0001g0423 a0001c0001t0002g0023 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0285 a0001c0001t0002g0370 a0001c0001t0002g0380 a0001c0001t0002g0399 a0001c0001t0002g0400 a0012c0007t0002g0137	28	392	0.0714	-49	c.58+ others(64): Show c.58+8770_58+8818delTATATATATATATATATATGTATATATATA TATATATATATATATATAT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	1/2			chr8	TogoVar
ERMARD_chr6_169746622_169786600	169781971	GTCTGCAG others(42): Show GTCTGCAGTCTTCTGATGTACCCTTTCCGAGTGGTCGGTGTGAGTCTCAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00438.hp1 others(57): Show HG00099.hp1 HG00408.hp2 HG00438.hp1 HG00738.hp2 HG01069.hp1 HG01071.hp2 HG01099.hp1 HG01433.hp2 HG01891.hp1 HG01934.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp2 HG02083.hp2 HG02109.hp1 HG02258.hp2 HG02273.hp1 HG02293.hp2 HG02486.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03098.hp1 HG03486.hp1 HG03516.hp1 HG03579.hp1 HG03834.hp1 HG03927.hp2 HG04115.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18939.hp1 NA18942.hp2 NA18944.hp1 NA18953.hp1 NA18955.hp2 NA18959.hp2 NA18965.hp2 NA18973.hp2 NA18990.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19005.hp2 NA19030.hp2 NA19058.hp2 NA19063.hp2 NA19070.hp1 NA19074.hp1 NA19076.hp1 NA19077.hp2 NA19088.hp2 NA19240.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0002c0006 a0005c0011 a0002c0002 a0002c0006 a0005c0011	a0002c0002t0001 a0002c0006t0001 a0005c0011t0001 a0002c0002t0001 a0002c0006t0001 a0005c0011t0001	a0002c0002t0001g0001 a0002c0002t0001g0026 a0002c0002t0001g0046 others(24): Show a0002c0002t0001g0001 a0002c0002t0001g0026 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0170 a0002c0006t0001g0051 a0002c0006t0001g0161 a0002c0006t0001g0162 a0002c0006t0001g0163 a0002c0006t0001g0164 a0005c0011t0001g0053 a0005c0011t0001g0054 a0005c0011t0001g0055	60	375	0.1600	-49	c.45 others(58): Show c.459_*507delTCTGCAGTCTTCTGATGTACCCTTTCCGAGTGGTCG GTGTGAGTCTCAC	ERMARD	ENSG00000130023.16	transcript	ENST00000366773.8	protein_coding		372		chr6	TogoVar
ERMARD_chr6_169746622_169786600	169782479	TACCCTCT others(42): Show TACCCTCTCCGAGTGGTCGGTGTGAGTCTCAGTCTGCAGTCTTCGGATGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00438.hp1 others(49): Show HG00099.hp1 HG00408.hp2 HG00438.hp1 HG00738.hp2 HG01069.hp1 HG01071.hp2 HG01433.hp2 HG01891.hp1 HG01934.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02027.hp2 HG02056.hp2 HG02083.hp2 HG02109.hp1 HG02273.hp1 HG02293.hp2 HG02486.hp2 HG02970.hp1 HG03098.hp1 HG03579.hp1 HG03834.hp1 HG03927.hp2 HG04115.hp2 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18939.hp1 NA18942.hp2 NA18944.hp1 NA18953.hp1 NA18955.hp2 NA18959.hp2 NA18965.hp2 NA18973.hp2 NA18990.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19005.hp2 NA19058.hp2 NA19063.hp2 NA19070.hp1 NA19074.hp1 NA19076.hp1 NA19077.hp2 NA19079.hp1 NA19088.hp2 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0026 a0002c0002t0001g0046 others(17): Show a0002c0002t0001g0001 a0002c0002t0001g0026 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0170	52	378	0.1376	-49	c.96 others(59): Show c.967_*1015delACCCTCTCCGAGTGGTCGGTGTGAGTCTCAGTCTG CAGTCTTCGGATGG	ERMARD	ENSG00000130023.16	transcript	ENST00000366773.8	protein_coding		880		chr6	TogoVar
ERP44_chr9_99974185_100104000	100068311	TGCCCCGT others(42): Show TGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02451.hp2 HG02572.hp2 others(7): Show HG02280.hp1 HG02451.hp2 HG02572.hp2 HG02895.hp1 HG02922.hp2 HG02976.hp2 HG03209.hp2 HG03225.hp2 HG03516.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0018	a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0084 others(7): Show a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0105 a0001c0001t0003g0108 a0001c0001t0004g0106 a0001c0001t0004g0107 a0001c0001t0012g0086 a0001c0001t0018g0091	10	218	0.0459	-49	c.58- others(64): Show c.58-8188_58-8140delGGCTGGCCGGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGGACGGGGC	ERP44	ENSG00000023318.9	transcript	ENST00000262455.7	protein_coding	1/11			chr9	TogoVar
ESCO1_chr18_21524284_21605704	21592558	ACCCCCCA others(42): Show ACCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTGGGGCGGGAGGCTGAC	A A	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	305	0.0033	-49	c.-82 others(68): Show c.-825+8016_-825+8064delGTCAGCCTCCCGCCCCACCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGG	ESCO1	ENSG00000141446.11	transcript	ENST00000269214.10	protein_coding	1/11			chr18	TogoVar

Search by Variant

Search

Search Results