Joint Open Genome and Omics Platform (JoGo)

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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
DPP9_chr19_4670227_4728842	4672168	CATATATT others(43): Show CATATATTCATATATACTTATATATATATTCATATATTCATATATACTTA T	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02486.hp1 HG02630.hp2 others(7): Show HG02109.hp1 HG02486.hp1 HG02630.hp2 HG02818.hp1 HG02895.hp1 HG02976.hp2 HG03139.hp1 HG06807.hp1 NA18906.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0014 a0001c0002t0002 a0001c0002t0014	a0001c0002t0002g0004 a0001c0002t0002g0033 a0001c0002t0002g0046 others(7): Show a0001c0002t0002g0004 a0001c0002t0002g0033 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0048 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0129 a0001c0002t0014g0157	10	304	0.0329	-50	c.43 others(61): Show c.4346_*4395delATAAGTATATATGAATATATGAATATATATATAA GTATATATGAATATAT	DPP9	ENSG00000142002.19	transcript	ENST00000262960.14	protein_coding		3058		chr19	TogoVar
DPP9_chr19_4670227_4728842	4672247	ATATATTC others(43): Show ATATATTCATATATATGAATATATATATTAATATATTCATATATATATAC T	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02970.hp2 HG02451.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0030 a0001c0001t0002g0031	2	305	0.0066	-50	c.42 others(61): Show c.4267_*4316delAGTATATATATATGAATATATTAATATATATATT CATATATATGAATATA	DPP9	ENSG00000142002.19	transcript	ENST00000262960.14	protein_coding		2979		chr19	TogoVar
DPYSL5_chr2_26843132_26955351	26932121	AAGAGAAA others(43): Show AAGAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA G	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0047 a0001c0001t0013g0047	1	219	0.0046	-50	c.714 others(65): Show c.714+439_714+488delGAGAAAGAAAGAAAGAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGA	DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DRD3_chr3_114122580_114184052	114156715	GTCTTTCT others(43): Show GTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCT T	G G	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA19004.hp2 NA19087.hp2 NA18747.hp1 NA19004.hp2 NA19087.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0018 a0001c0002t0001g0266 a0001c0002t0001g0018 a0001c0002t0001g0266	3	260	0.0115	-50	c.383 others(67): Show c.383+2990_383+3039delAAGAAAGAAAGAAAGAAAGAAAAAGAAA GAAAGAAAGAAAGAAAGAAAGA	DRD3	ENSG00000151577.14	transcript	ENST00000383673.5	protein_coding	3/6			chr3	TogoVar
DST_chr6_56452996_56959830	56894662	TCCCCCCA others(43): Show TCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC C	T T	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0042 a0042	a0042c0019 a0042c0019	a0042c0019t0002 a0042c0019t0002	a0042c0019t0002g0073 a0042c0019t0002g0073	1	82	0.0122	-50	c.417 others(67): Show c.417+5709_417+5758delGGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGG	DST	ENSG00000151914.22	transcript	ENST00000680361.1	protein_coding	3/103			chr6	TogoVar
DTD1_chr20_18583054_18771644	18690709	CTTTTGTA others(43): Show CTTTTGTACCAGTATCATGCTGTTTTGGTTACTGTAGCCTTATACTATAG T	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA21309.hp2 HG02257.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0211 a0001c0001t0017g0212 a0001c0001t0017g0211 a0001c0001t0017g0212	2	396	0.0051	-50	c.478 others(69): Show c.478-53388_478-53339delTTGTACCAGTATCATGCTGTTTTGGT TACTGTAGCCTTATACTATAGTTT	DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
DTNB_chr2_25372243_25678577	25634284	TGGGGGGG others(43): Show TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT G	T T	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	163	0.0061	-50	c.148 others(67): Show c.148+4680_148+4729delCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCC	DTNB	ENSG00000138101.20	transcript	ENST00000406818.8	protein_coding	3/20			chr2	TogoVar
DUXA_chr19_57149021_57172485	57172072	GGGGCGCG others(43): Show GGGGCGCGCGAGGGGGCGGGGCGCGCGAGGGGGCGGGGCGCGCGAGGGGG C	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0224 a0001c0001t0002g0224	1	438	0.0023	-50	c.-46 others(61): Show c.-4679_-4630delGCCCCCTCGCGCGCCCCGCCCCCTCGCGCGCCCC GCCCCCTCGCGCGCCC	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4588		chr19	TogoVar
DUXA_chr19_57149021_57172485	57172106	GGGGCGCG others(43): Show GGGGCGCGCGAGGGGGCGGGGCGCGCGAGGGGGCGGGGCGCGCGAGGGGG C	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG03654.hp2 NA18964.hp1 others(1): Show HG00423.hp2 HG03654.hp2 NA18964.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0096 a0001c0001t0001g0108 a0001c0001t0002g0080 others(1): Show a0001c0001t0001g0096 a0001c0001t0001g0108 a0001c0001t0002g0080 a0001c0001t0006g0106	4	432	0.0093	-50	c.-47 others(61): Show c.-4713_-4664delGCCCCCTCGCGCGCCCCGCCCCCTCGCGCGCCCC GCCCCCTCGCGCGCCC	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4622		chr19	TogoVar
DYSF_chr2_71461699_71691763	71662438	GTGTGTGT others(43): Show GTGTGTGTATGTGTGTATATGTGCACATATGTGCGTGCGTGTGTATGTAT T	G G	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0041 a0001c0010t0001g0041	1	206	0.0049	-50	c.500 others(69): Show c.5003+1803_5004-1765delATATGTGCACATATGTGCGTGCGTGT GTATGTATTTGTGTGTATGTGTGT	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	45/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
ECHS1_chr10_133357485_133378354	133369377	TGTCATGA others(43): Show TGTCATGAAATGATCACAATCCGCAGACCCCTGGTTTACACGGCAGGGAG C	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03540.hp1 HG02615.hp1 HG03540.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0037 a0003c0004t0002g0162 a0003c0004t0002g0037 a0003c0004t0002g0162	2	330	0.0061	-50	c.415 others(65): Show c.415-405_415-356delGCTCCCTGCCGTGTAAACCAGGGGTCTGCG GATTGTGATCATTTCATGAC	ECHS1	ENSG00000127884.5	transcript	ENST00000368547.4	protein_coding	3/7			chr10	TogoVar
ECHS1_chr10_133357485_133378354	133369411	TTTACACG others(43): Show TTTACACGGCAGGGAGCGTCATGAAATGATCACAATCCGCAGACCCCTGG C	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02109.hp1 HG02109.hp2 others(23): Show HG01884.hp2 HG02109.hp1 HG02109.hp2 HG02280.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02723.hp1 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG06807.hp1 NA18944.hp2 NA18971.hp1 NA19030.hp1 NA20300.hp1	a0003 a0004 a0003 a0004	a0003c0003 a0004c0005 a0003c0003 a0004c0005	a0003c0003t0002 a0003c0003t0003 a0003c0003t0005 others(2): Show a0003c0003t0002 a0003c0003t0003 a0003c0003t0005 a0003c0003t0006 a0004c0005t0003	a0003c0003t0002g0143 a0003c0003t0003g0013 a0003c0003t0003g0026 others(13): Show a0003c0003t0002g0143 a0003c0003t0003g0013 a0003c0003t0003g0026 a0003c0003t0003g0027 a0003c0003t0003g0034 a0003c0003t0003g0129 a0003c0003t0003g0131 a0003c0003t0003g0147 a0003c0003t0003g0154 a0003c0003t0005g0155 a0003c0003t0006g0132 a0004c0005t0003g0015 a0004c0005t0003g0055 a0004c0005t0003g0064 a0004c0005t0003g0081 a0004c0005t0003g0115	26	329	0.0790	-50	c.415 others(65): Show c.415-439_415-390delGCCAGGGGTCTGCGGATTGTGATCATTTCA TGACGCTCCCTGCCGTGTAA	ECHS1	ENSG00000127884.5	transcript	ENST00000368547.4	protein_coding	3/7			chr10	TogoVar
EEPD1_chr7_36148254_36306538	36271834	CTATTCTA others(43): Show CTATTCTATTCTATTCTATTCTATTCTATTCTATTCTATTCTATTCTATT G	C C	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00738.hp2 HG01070.hp2 others(17): Show HG00609.hp2 HG00738.hp2 HG01070.hp2 HG01192.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01515.hp1 HG01934.hp1 HG02074.hp2 HG02132.hp2 HG02165.hp1 HG02300.hp2 HG03710.hp1 NA18943.hp2 NA18989.hp1 NA19002.hp2 NA19056.hp2 NA19058.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0056 a0001c0001t0069	a0001c0001t0001g0080 a0001c0001t0001g0089 a0001c0001t0001g0123 others(17): Show a0001c0001t0001g0080 a0001c0001t0001g0089 a0001c0001t0001g0123 a0001c0001t0001g0151 a0001c0001t0001g0160 a0001c0001t0001g0165 a0001c0001t0001g0171 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0250 a0001c0001t0001g0262 a0001c0001t0001g0266 a0001c0001t0001g0295 a0001c0001t0002g0131 a0001c0001t0003g0333 a0001c0001t0005g0039 a0001c0001t0005g0040 a0001c0001t0007g0034 a0001c0001t0056g0076 a0001c0001t0069g0312	20	344	0.0581	-50	c.931 others(67): Show c.931-9265_931-9216delTATTCTATTCTATTCTATTCTATTCTAT TCTATTGTATTCTATTCTATTC	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
EFCAB6_chr22_43523778_43817305	43589280	CAAAAAAA others(43): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGTACA G	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp2 HG00558.hp2 others(73): Show HG00280.hp2 HG00423.hp2 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00735.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01169.hp2 HG01255.hp2 HG01258.hp2 HG01261.hp1 HG01934.hp2 HG02004.hp2 HG02040.hp1 HG02055.hp2 HG02083.hp2 HG02109.hp2 HG02145.hp2 HG02155.hp1 HG02300.hp2 HG02602.hp1 HG02630.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp2 HG02886.hp1 HG03017.hp2 HG03492.hp2 HG03654.hp1 HG03834.hp1 HG04115.hp1 HG06807.hp2 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18950.hp1 NA18954.hp2 NA18957.hp1 NA18960.hp1 NA18962.hp2 NA18963.hp1 NA18965.hp1 NA18967.hp2 NA18972.hp2 NA18974.hp1 NA18979.hp2 NA18984.hp1 NA18999.hp1 NA19000.hp2 NA19004.hp2 NA19005.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19057.hp1 NA19064.hp1 NA19066.hp1 NA19070.hp2 NA19077.hp1 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19083.hp1 NA19084.hp1 NA19087.hp1 NA20129.hp1 NA20905.hp2	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0013	a0001c0001 a0001c0013 a0001c0046 others(6): Show a0001c0001 a0001c0013 a0001c0046 a0001c0047 a0002c0002 a0002c0021 a0008c0008 a0008c0029 a0013c0018	a0001c0001t0001 a0001c0001t0007 a0001c0013t0001 others(7): Show a0001c0001t0001 a0001c0001t0007 a0001c0013t0001 a0001c0046t0001 a0001c0047t0001 a0002c0002t0001 a0002c0021t0001 a0008c0008t0001 a0008c0029t0001 a0013c0018t0001	a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 others(73): Show a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0239 a0001c0001t0001g0258 a0001c0001t0007g0238 a0001c0013t0001g0031 a0001c0046t0001g0067 a0001c0047t0001g0178 a0002c0002t0001g0140 a0002c0021t0001g0179 a0008c0008t0001g0026 a0008c0008t0001g0033 a0008c0008t0001g0035 a0008c0008t0001g0036 a0008c0008t0001g0037 a0008c0008t0001g0038 a0008c0008t0001g0202 a0008c0029t0001g0034 a0013c0018t0001g0090 a0013c0018t0001g0092	76	104	0.7308	-50	c.303 others(67): Show c.3032+744_3032+793delCTGTACTTCTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTT	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	24/31			chr22	TogoVar
EFNA5_chr5_107371894_107675937	107591849	TATATAAT others(43): Show TATATAATATAAAAAATATATATATAATATATAATATATATATTATATAT A	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00639.hp2 others(13): Show HG00280.hp2 HG00323.hp2 HG00639.hp2 HG00642.hp1 HG01074.hp2 HG01109.hp1 HG01175.hp1 HG01361.hp1 HG01515.hp1 HG01978.hp1 HG02109.hp1 HG02145.hp2 HG02293.hp1 HG02602.hp2 HG03041.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 a0001c0001t0014 a0001c0001t0027 a0001c0001t0053 a0001c0001t0054 a0001c0001t0081	a0001c0001t0001g0018 a0001c0001t0001g0076 a0001c0001t0001g0092 others(13): Show a0001c0001t0001g0018 a0001c0001t0001g0076 a0001c0001t0001g0092 a0001c0001t0002g0074 a0001c0001t0002g0099 a0001c0001t0002g0133 a0001c0001t0003g0080 a0001c0001t0003g0183 a0001c0001t0004g0091 a0001c0001t0006g0093 a0001c0001t0011g0079 a0001c0001t0014g0094 a0001c0001t0027g0010 a0001c0001t0053g0097 a0001c0001t0054g0075 a0001c0001t0081g0077	16	190	0.0842	-50	c.125 others(69): Show c.125+78590_125+78639delTATATATAATATATATATTATATATT ATATATATATTTTTTATATTATAT	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EGFR_chr7_55014017_55216628	55166732	GTGGTAGT others(43): Show GTGGTAGTGATGATGGTGTTGATGGTGGTGAGGAGGTGAGAGTCACAATG T	G G	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0173 a0001c0003t0004g0173	1	248	0.0040	-50	c.188 others(69): Show c.1880+1300_1880+1349delAGTGATGATGGTGTTGATGGTGGTGA GGAGGTGAGAGTCACAATGTTGGT	EGFR	ENSG00000146648.21	transcript	ENST00000275493.7	protein_coding	15/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
EGFR_chr7_55014017_55216628	55166894	GTGAGGAG others(43): Show GTGAGGAGGTGAGAGTCACAATGTTGGTGGTGTTGATGGTGGTGATGGTG A	G G	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0064 a0001c0003t0064	a0001c0003t0064g0122 a0001c0003t0064g0122	1	246	0.0041	-50	c.188 others(69): Show c.1880+1468_1880+1517delAGAGTCACAATGTTGGTGGTGTTGAT GGTGGTGATGGTGATGAGGAGGTG	EGFR	ENSG00000146648.21	transcript	ENST00000275493.7	protein_coding	15/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
EGFR_chr7_55014017_55216628	55167217	CGGTGGTG others(43): Show CGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGGTGA T	C C	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02486.hp1 HG02723.hp1 others(4): Show HG01074.hp1 HG02486.hp1 HG02723.hp1 HG03041.hp2 NA18522.hp1 NA18949.hp1 NA18971.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0004 a0001c0007 others(2): Show a0001c0003 a0001c0004 a0001c0007 a0002c0006 a0002c0009	a0001c0003t0001 a0001c0003t0019 a0001c0004t0016 others(3): Show a0001c0003t0001 a0001c0003t0019 a0001c0004t0016 a0001c0007t0003 a0002c0006t0009 a0002c0009t0002	a0001c0003t0001g0204 a0001c0003t0019g0141 a0001c0004t0016g0075 others(4): Show a0001c0003t0001g0204 a0001c0003t0019g0141 a0001c0004t0016g0075 a0001c0007t0003g0215 a0002c0006t0009g0083 a0002c0009t0002g0063 a0002c0009t0002g0187	7	109	0.0642	-50	c.188 others(69): Show c.1880+1826_1880+1875delGTGATGGTGGTGATGGTGGTGAGGAG GTGGGAGTCACAATGGTGGTGGTG	EGFR	ENSG00000146648.21	transcript	ENST00000275493.7	protein_coding	15/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
EGFR_chr7_55014017_55216628	55167507	GTGGTGGT others(43): Show GTGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAGTGGTGGTGGTGTTG A	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp1 HG00621.hp2 others(52): Show HG00438.hp2 HG00558.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01346.hp2 HG01884.hp2 HG01975.hp2 HG02027.hp1 HG02055.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02155.hp1 HG02257.hp2 HG02258.hp2 HG02293.hp2 HG02451.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp2 HG02809.hp1 HG03017.hp1 HG03098.hp2 HG03130.hp2 HG03239.hp2 HG03453.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03654.hp2 HG03834.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp2 NA18949.hp2 NA18964.hp2 NA18965.hp2 NA18977.hp1 NA18983.hp1 NA19043.hp1 NA20905.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(14): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0012 a0001c0013 a0001c0015 a0001c0016 a0001c0022 a0001c0023 a0001c0024 a0001c0034 a0001c0035 a0001c0040 a0002c0018 a0002c0038	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(32): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0026 a0001c0001t0027 a0001c0001t0034 a0001c0001t0035 a0001c0003t0027 a0001c0004t0001 a0001c0004t0003 a0001c0004t0004 a0001c0005t0001 a0001c0005t0003 a0001c0005t0004 a0001c0005t0008 a0001c0005t0020 a0001c0005t0032 a0001c0007t0005 a0001c0007t0046 a0001c0012t0057 a0001c0013t0053 a0001c0013t0061 a0001c0015t0001 a0001c0016t0001 a0001c0016t0002 a0001c0016t0017 a0001c0022t0001 a0001c0022t0054 a0001c0023t0024 a0001c0024t0001 a0001c0034t0036 a0001c0035t0003 a0001c0040t0007 a0002c0018t0007 a0002c0038t0001	a0001c0001t0001g0080 a0001c0001t0002g0023 a0001c0001t0002g0029 others(52): Show a0001c0001t0001g0080 a0001c0001t0002g0023 a0001c0001t0002g0029 a0001c0001t0002g0056 a0001c0001t0002g0102 a0001c0001t0002g0119 a0001c0001t0002g0137 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0011g0021 a0001c0001t0011g0022 a0001c0001t0011g0055 a0001c0001t0011g0184 a0001c0001t0011g0189 a0001c0001t0011g0206 a0001c0001t0026g0120 a0001c0001t0027g0176 a0001c0001t0034g0195 a0001c0001t0035g0030 a0001c0003t0027g0174 a0001c0004t0001g0007 a0001c0004t0003g0117 a0001c0004t0004g0162 a0001c0005t0001g0124 a0001c0005t0001g0125 a0001c0005t0003g0012 a0001c0005t0003g0016 a0001c0005t0003g0048 a0001c0005t0003g0118 a0001c0005t0003g0185 a0001c0005t0004g0112 a0001c0005t0004g0138 a0001c0005t0008g0131 a0001c0005t0020g0128 a0001c0005t0032g0231 a0001c0007t0005g0005 a0001c0007t0046g0019 a0001c0012t0057g0178 a0001c0013t0053g0164 a0001c0013t0061g0107 a0001c0015t0001g0026 a0001c0015t0001g0110 a0001c0016t0001g0034 a0001c0016t0001g0192 a0001c0016t0002g0186 a0001c0016t0017g0031 a0001c0022t0001g0018 a0001c0022t0054g0211 a0001c0023t0024g0208 a0001c0024t0001g0190 a0001c0034t0036g0239 a0001c0035t0003g0004 a0001c0040t0007g0193 a0002c0018t0007g0134 a0002c0038t0001g0092	55	246	0.2236	-50	c.188 others(69): Show c.1880+2146_1880+2195delGGAGTCACAGTGGTGGTGGTGTTGAT GGTGGTGATGGTGGTGAGGAGGTG	EGFR	ENSG00000146648.21	transcript	ENST00000275493.7	protein_coding	15/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF2AK2_chr2_37094210_37161980	37161227	AAAAAAAA others(43): Show AAAAAAAAAAAGAAAGAAAGAGAAAGAAAAGAAAGAAAGAAAGAAAGAAA G	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG03195.hp2 HG01243.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0030 a0001c0003t0071 a0001c0001t0030 a0001c0003t0071	a0001c0001t0030g0300 a0001c0003t0071g0301 a0001c0001t0030g0300 a0001c0003t0071g0301	2	321	0.0062	-50	c.-45 others(61): Show c.-4553_-4504delCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTCTT TCTTTCTTTTTTTTTT	EIF2AK2	ENSG00000055332.19	transcript	ENST00000233057.9	protein_coding		4248		chr2	TogoVar
EIF3C_chr16_28706464_28740596	28737778	GCCCCCCA others(43): Show GCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGA C	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03579.hp2 NA19070.hp2 HG03130.hp2 HG03579.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0070 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0070	3	100	0.0300	-50	c.22 others(61): Show c.2266_*2315delCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGGCTGAC	EIF3C	ENSG00000184110.15	transcript	ENST00000331666.11	protein_coding		2183		chr16	TogoVar
EIF3C_chr16_28706464_28740596	28737816	CGGGGGGG others(43): Show CGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGG A	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	100	0.0100	-50	c.23 others(61): Show c.2304_*2353delGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCTGGA	EIF3C	ENSG00000184110.15	transcript	ENST00000331666.11	protein_coding		2221		chr16	TogoVar
EIF3H_chr8_116637130_116760823	116679134	TGCCCGGC others(43): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCC C	T T	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0159 a0001c0001t0018g0159	1	329	0.0030	-50	c.290 others(69): Show c.290-20204_290-20155delGGGGGGCTGACCCCCACCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGC	EIF3H	ENSG00000147677.12	transcript	ENST00000521861.6	protein_coding	2/7			chr8	TogoVar
EIF4A1_chr17_7567825_7584006	7571862	TATATATA others(43): Show TATATATATATATATATATATATATATATATATATATATATATATATAAA A	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp1 NA18967.hp1 NA19004.hp1 others(1): Show HG01516.hp1 NA18967.hp1 NA19004.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	4	433	0.0092	-50	c.-97 others(59): Show c.-979_-930delATATATATATATATATATATATATATATATATATAT ATATATATATAAAA	EIF4A1	ENSG00000161960.16	transcript	ENST00000293831.13	protein_coding		962		chr17	TogoVar
ELL2_chr5_95880098_95966851	95927374	CACACACA others(43): Show CACACACACGTGTGTATATATAGACATACACACACGTGTGTATATAGACA T	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02717.hp1 HG02976.hp1 HG01243.hp2 HG02717.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0218 a0001c0001t0003g0003 a0001c0001t0003g0218	3	155	0.0194	-50	c.196 others(67): Show c.196-7879_196-7830delATGTCTATATACACACGTGTGTGTATGT CTATATATACACACGTGTGTGT	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11			chr5	TogoVar
ELL2_chr5_95880098_95966851	95927500	TACACACA others(43): Show TACACACACGTGTGTATATAGACATACACACACGTGTGTATATAGACATA C	T T	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0196 a0001c0001t0003g0196	1	252	0.0040	-50	c.196 others(67): Show c.196-8005_196-7956delGTATGTCTATATACACACGTGTGTGTAT GTCTATATACACACGTGTGTGT	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11			chr5	TogoVar
ELOVL5_chr6_53262404_53353950	53305353	ACGGGGCG others(43): Show ACGGGGCGGCTGGCCTGGCGGGGGCTGACCCCCCCCCACCTCCCTCCCGG G	A A	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA19082.hp1 NA18947.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0275 a0001c0001t0001g0249 a0001c0001t0001g0275	2	318	0.0063	-50	c.-8- others(65): Show c.-8-9696_-8-9647delCCCGGGAGGGAGGTGGGGGGGGGTCAGCCC CCGCCAGGCCAGCCGCCCCG	ELOVL5	ENSG00000012660.14	transcript	ENST00000304434.11	protein_coding	1/7			chr6	TogoVar
ELOVL7_chr5_60746791_60849269	60819064	GGGAGGGG others(43): Show GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGAGGAGAGGAG A	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	234	0.0043	-50	c.-85 others(69): Show c.-85-19884_-85-19835delTCTCCTCTCCTCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCCTCC	ELOVL7	ENSG00000164181.14	transcript	ENST00000508821.6	protein_coding	1/8			chr5	TogoVar
ELOVL7_chr5_60746791_60849269	60819084	GGGAGGGG others(43): Show GGGAGGGGAGGGGAGGGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG A	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp1 HG00544.hp1 others(24): Show HG00140.hp1 HG00438.hp1 HG00544.hp1 HG01258.hp1 HG01261.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01975.hp2 HG02145.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02809.hp2 HG02895.hp1 HG02896.hp2 HG03540.hp2 HG04115.hp2 NA18960.hp2 NA18999.hp1 NA19000.hp1 NA19030.hp1 NA19065.hp2 NA19074.hp1 NA19084.hp1 NA20300.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0013 a0001c0001t0015 a0001c0001t0018	a0001c0001t0001g0003 a0001c0001t0002g0068 a0001c0001t0003g0113 others(23): Show a0001c0001t0001g0003 a0001c0001t0002g0068 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0191 a0001c0001t0004g0005 a0001c0001t0004g0037 a0001c0001t0004g0046 a0001c0001t0004g0047 a0001c0001t0004g0056 a0001c0001t0004g0058 a0001c0001t0004g0075 a0001c0001t0004g0076 a0001c0001t0004g0079 a0001c0001t0004g0089 a0001c0001t0005g0008 a0001c0001t0005g0010 a0001c0001t0005g0012 a0001c0001t0005g0013 a0001c0001t0005g0014 a0001c0001t0005g0016 a0001c0001t0005g0021 a0001c0001t0005g0023 a0001c0001t0013g0009 a0001c0001t0015g0022 a0001c0001t0018g0039	27	256	0.1055	-50	c.-85 others(69): Show c.-85-19904_-85-19855delTCTCCTCTCCTCTCCTCTCCTCTCCT CTCCTCTCCCCTCCCCTCCCCTCC	ELOVL7	ENSG00000164181.14	transcript	ENST00000508821.6	protein_coding	1/8			chr5	TogoVar
ENOX1_chr13_43208130_43791972	43681590	TTAGATTT others(43): Show TTAGATTTCTCTATGTTTGGGTATGTCTTGTCTAACCAATAACAGGACAA C	T T	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0039 a0002c0004t0039	a0002c0004t0039g0186 a0002c0004t0039g0186	1	186	0.0054	-50	c.-28 others(71): Show c.-284-14096_-284-14047delGTTGTCCTGTTATTGGTTAGACAA GACATACCCAAACATAGAGAAATCTA	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	1/16			chr13	TogoVar
ENTHD1_chr22_39738044_39898760	39844025	GTGTACAA others(43): Show GTGTACAATTACTGTACATCTTTCTTGGTAGATGAATTTTGAGATTAAAG A	G G	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	215	0.0047	-50	c.593 others(67): Show c.593-8117_593-8068delTCTTTAATCTCAAAATTCATCTACCAAG AAAGATGTACAGTAATTGTACA	ENTHD1	ENSG00000176177.10	transcript	ENST00000325157.7	protein_coding	3/6			chr22	TogoVar
EPB41L4A_chr5_112157619_112424277	112339478	ATATATAT others(43): Show ATATATATATATATATATCTATATATATATATAGATATATAGATATATAT C	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00609.hp1 HG00621.hp2 others(64): Show HG00438.hp1 HG00609.hp1 HG00621.hp2 HG01071.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01981.hp2 HG01993.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp2 HG02132.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02300.hp1 HG02523.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02723.hp1 HG02886.hp2 HG02922.hp2 HG02965.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03516.hp2 HG03579.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04199.hp2 NA18747.hp2 NA18906.hp2 NA18950.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18979.hp1 NA18983.hp2 NA18988.hp1 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19003.hp2 NA19010.hp1 NA19030.hp1 NA19043.hp1 NA19057.hp1 NA19058.hp2 NA19062.hp2 NA19064.hp1 NA19068.hp1 NA19087.hp2 NA20300.hp2 NA21309.hp2	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0005 a0007 a0009 a0012 a0013	a0001c0001 a0001c0002 a0001c0021 others(10): Show a0001c0001 a0001c0002 a0001c0021 a0002c0003 a0002c0007 a0002c0008 a0004c0015 a0005c0010 a0005c0014 a0007c0009 a0009c0030 a0012c0027 a0013c0029	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0018 a0001c0001t0038 a0001c0001t0040 a0001c0001t0045 a0001c0001t0046 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0022 a0001c0002t0031 a0001c0002t0039 a0001c0002t0041 a0001c0002t0042 a0001c0021t0002 a0002c0003t0026 a0002c0007t0002 a0002c0007t0030 a0002c0008t0001 a0002c0008t0016 a0002c0008t0021 a0004c0015t0004 a0005c0010t0011 a0005c0014t0011 a0007c0009t0010 a0007c0009t0023 a0009c0030t0001 a0012c0027t0010 a0013c0029t0010	a0001c0001t0001g0100 a0001c0001t0002g0011 a0001c0001t0002g0012 others(64): Show a0001c0001t0001g0100 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0005g0104 a0001c0001t0005g0110 a0001c0001t0005g0155 a0001c0001t0005g0162 a0001c0001t0005g0163 a0001c0001t0005g0181 a0001c0001t0005g0184 a0001c0001t0008g0014 a0001c0001t0008g0015 a0001c0001t0008g0017 a0001c0001t0008g0018 a0001c0001t0008g0019 a0001c0001t0008g0024 a0001c0001t0018g0021 a0001c0001t0018g0051 a0001c0001t0038g0180 a0001c0001t0040g0097 a0001c0001t0045g0200 a0001c0001t0046g0105 a0001c0002t0001g0161 a0001c0002t0001g0201 a0001c0002t0002g0010 a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0058 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0063 a0001c0002t0002g0067 a0001c0002t0003g0106 a0001c0002t0003g0107 a0001c0002t0003g0109 a0001c0002t0003g0114 a0001c0002t0003g0115 a0001c0002t0003g0120 a0001c0002t0003g0149 a0001c0002t0003g0169 a0001c0002t0003g0178 a0001c0002t0003g0198 a0001c0002t0003g0213 a0001c0002t0005g0113 a0001c0002t0022g0139 a0001c0002t0031g0059 a0001c0002t0039g0108 a0001c0002t0041g0082 a0001c0002t0042g0194 a0001c0021t0002g0009 a0002c0003t0026g0003 a0002c0007t0002g0052 a0002c0007t0030g0053 a0002c0008t0001g0221 a0002c0008t0016g0057 a0002c0008t0021g0079 a0004c0015t0004g0117 a0005c0010t0011g0071 a0005c0010t0011g0072 a0005c0014t0011g0069 a0007c0009t0010g0049 a0007c0009t0023g0202 a0009c0030t0001g0188 a0012c0027t0010g0036 a0013c0029t0010g0037	67	223	0.3004	-50	c.100 others(69): Show c.100-32038_100-31989delGATATATATCTATATATCTATATATA TATATAGATATATATATATATATA	EPB41L4A	ENSG00000129595.14	transcript	ENST00000261486.6	protein_coding	1/22			chr5	TogoVar
EPS15L1_chr19_16350247_16476970	16451469	AAACGGTC others(43): Show AAACGGTCTTAACTGTTAGAGGTGCATGTTGAAATACAATTTCTTTTATT T	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	274	0.0036	-50	c.34- others(65): Show c.34-9300_34-9251delAAATAAAAGAAATTGTATTTCAACATGCAC CTCTAACAGTTAAGACCGTT	EPS15L1	ENSG00000127527.14	transcript	ENST00000455140.7	protein_coding	1/23			chr19	TogoVar
EPS8L2_chr11_701231_732727	721683	CGCCAGCA others(43): Show CGCCAGCAGGTGCAGGGGACAGGGACGGGGCCGGCAGGTGCAGGGGACGG G	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0011 a0008c0015t0011	a0008c0015t0011g0263 a0008c0015t0011g0263	1	404	0.0025	-50	c.895 others(63): Show c.895+22_895+71delCCGGCAGGTGCAGGGGACGGGGCCAGCAGGTG CAGGGGACAGGGACGGGG	EPS8L2	ENSG00000177106.17	transcript	ENST00000318562.13	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
ERC1_chr12_986223_1500931	1090884	ATTATTAT others(43): Show ATTATTATTATTATTATTATTATTATTATCATTTGTGACAGAGCTTTGCT C	A A	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0067	a0001c0001t0067g0132 a0001c0001t0067g0132	1	140	0.0071	-50	c.108 others(69): Show c.1086+7306_1086+7355delTATTATTATTATTATTATTATTATTA TCATTTGTGACAGAGCTTTGCTCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122021	CTATCTCT others(43): Show CTATCTCTATCTATCTCTATCTCTATCTATCTATCTCTATCTCTATCTCT A	C C	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0024 a0002c0002t0024	a0002c0002t0024g0043 a0002c0002t0024g0043	1	157	0.0064	-50	c.156 others(69): Show c.1569+6000_1569+6049delATCTCTATCTCTATCTATCTATCTCT ATCTCTATCTCTATATCTCTATCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1247046	TTGAGCCC others(43): Show TTGAGCCCAGGAGTTTGAGGTTGCAGTGAGCCCAGGAGTTTGAGGTTGCA G	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01358.hp2 HG01517.hp1 others(18): Show HG01109.hp1 HG01358.hp2 HG01517.hp1 HG01884.hp2 HG02055.hp1 HG02109.hp1 HG02145.hp1 HG02257.hp2 HG02258.hp2 HG02451.hp2 HG02559.hp1 HG02809.hp1 HG02886.hp1 HG02896.hp2 HG02970.hp2 HG03225.hp1 HG03669.hp1 NA19043.hp2 NA19240.hp2 NA20129.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0021 a0001c0001t0086 others(14): Show a0001c0001t0001 a0001c0001t0021 a0001c0001t0086 a0002c0002t0009 a0002c0002t0011 a0002c0002t0037 a0002c0002t0046 a0002c0002t0050 a0002c0002t0054 a0002c0002t0057 a0002c0002t0058 a0002c0002t0062 a0002c0002t0073 a0002c0002t0080 a0002c0002t0083 a0002c0002t0087 a0002c0002t0088	a0001c0001t0001g0086 a0001c0001t0021g0153 a0001c0001t0086g0095 others(18): Show a0001c0001t0001g0086 a0001c0001t0021g0153 a0001c0001t0086g0095 a0002c0002t0009g0149 a0002c0002t0009g0152 a0002c0002t0011g0122 a0002c0002t0011g0124 a0002c0002t0011g0125 a0002c0002t0011g0128 a0002c0002t0037g0151 a0002c0002t0046g0069 a0002c0002t0050g0138 a0002c0002t0054g0076 a0002c0002t0057g0127 a0002c0002t0058g0123 a0002c0002t0062g0142 a0002c0002t0073g0052 a0002c0002t0080g0106 a0002c0002t0083g0093 a0002c0002t0087g0096 a0002c0002t0088g0108	21	152	0.1382	-50	c.248 others(71): Show c.2487+10219_2487+10268delGAGCCCAGGAGTTTGAGGTTGCAG TGAGCCCAGGAGTTTGAGGTTGCAGT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERGIC3_chr20_35537078_35562634	35539532	TATATATA others(43): Show TATATATAACAGTTTATATATATAATATATATAACAGTTTATATATATAA A	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00673.hp2 others(66): Show HG00099.hp1 HG00140.hp1 HG00673.hp2 HG00733.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01109.hp2 HG01175.hp2 HG01192.hp1 HG01261.hp1 HG01346.hp1 HG01433.hp2 HG01884.hp1 HG01891.hp1 HG01934.hp2 HG01952.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02080.hp2 HG02145.hp2 HG02257.hp2 HG02451.hp2 HG02717.hp2 HG02965.hp2 HG02970.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03710.hp1 HG03942.hp2 HG04228.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18943.hp1 NA18952.hp2 NA18953.hp1 NA18955.hp2 NA18969.hp2 NA18978.hp1 NA18979.hp2 NA18988.hp1 NA19009.hp2 NA19054.hp1 NA19055.hp1 NA19072.hp2 NA19079.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 a0001c0001 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0005t0001	a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0013 others(36): Show a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0035 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0002g0005 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0216 a0001c0004t0001g0137 a0001c0005t0001g0195	69	362	0.1906	-50	c.-25 others(61): Show c.-2565_-2516delATATATAACAGTTTATATATATAATATATATAAC AGTTTATATATATAAA	ERGIC3	ENSG00000125991.21	transcript	ENST00000348547.7	protein_coding		2545		chr20	TogoVar
ERG_chr21_38375036_38503477	38429549	GTATATGT others(43): Show GTATATGTACATGTATACACATGTACATATATACATATGTGTATATGTAC A	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00408.hp1 others(183): Show HG00099.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01952.hp1 HG01978.hp2 HG01993.hp1 HG02027.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02273.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02602.hp1 HG02602.hp2 HG02683.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03491.hp2 HG03492.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18946.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18959.hp1 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18987.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18991.hp1 NA18993.hp1 NA18993.hp2 NA18997.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19054.hp1 NA19054.hp2 NA19058.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp2 NA19077.hp2 NA19078.hp2 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19086.hp1 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0029 a0001c0002t0012 a0001c0003t0010 a0001c0006t0001 a0003c0005t0001	a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0064 others(182): Show a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0080 a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0196 a0001c0001t0001g0200 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0226 a0001c0001t0001g0233 a0001c0001t0001g0237 a0001c0001t0001g0241 a0001c0001t0001g0247 a0001c0001t0001g0258 a0001c0001t0001g0266 a0001c0001t0001g0272 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0280 a0001c0001t0001g0287 a0001c0001t0001g0290 a0001c0001t0001g0306 a0001c0001t0001g0309 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0314 a0001c0001t0001g0316 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0332 a0001c0001t0001g0340 a0001c0001t0001g0351 a0001c0001t0001g0354 a0001c0001t0001g0357 a0001c0001t0002g0002 a0001c0001t0002g0086 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0146 a0001c0001t0002g0148 a0001c0001t0002g0164 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0182 a0001c0001t0002g0194 a0001c0001t0002g0204 a0001c0001t0002g0224 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0248 a0001c0001t0002g0264 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0307 a0001c0001t0002g0317 a0001c0001t0002g0322 a0001c0001t0002g0333 a0001c0001t0002g0341 a0001c0001t0002g0349 a0001c0001t0002g0355 a0001c0001t0003g0056 a0001c0001t0003g0088 a0001c0001t0003g0110 a0001c0001t0003g0113 a0001c0001t0003g0118 a0001c0001t0003g0131 a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0188 a0001c0001t0003g0195 a0001c0001t0003g0201 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0265 a0001c0001t0003g0269 a0001c0001t0003g0279 a0001c0001t0003g0281 a0001c0001t0003g0298 a0001c0001t0003g0302 a0001c0001t0003g0303 a0001c0001t0003g0325 a0001c0001t0003g0337 a0001c0001t0004g0010 a0001c0001t0004g0012 a0001c0001t0004g0013 a0001c0001t0004g0016 a0001c0001t0004g0017 a0001c0001t0004g0018 a0001c0001t0004g0019 a0001c0001t0004g0026 a0001c0001t0004g0029 a0001c0001t0004g0039 a0001c0001t0004g0043 a0001c0001t0004g0044 a0001c0001t0004g0051 a0001c0001t0004g0052 a0001c0001t0005g0005 a0001c0001t0005g0032 a0001c0001t0005g0050 a0001c0001t0006g0006 a0001c0001t0006g0036 a0001c0001t0006g0038 a0001c0001t0006g0046 a0001c0001t0006g0053 a0001c0001t0008g0071 a0001c0001t0008g0094 a0001c0001t0008g0171 a0001c0001t0008g0213 a0001c0001t0008g0297 a0001c0001t0010g0192 a0001c0001t0010g0246 a0001c0001t0011g0278 a0001c0001t0013g0093 a0001c0001t0013g0331 a0001c0001t0014g0083 a0001c0001t0015g0037 a0001c0001t0018g0030 a0001c0001t0021g0068 a0001c0001t0023g0339 a0001c0001t0024g0092 a0001c0001t0025g0062 a0001c0001t0027g0346 a0001c0001t0029g0232 a0001c0002t0012g0181 a0001c0002t0012g0227 a0001c0002t0012g0294 a0001c0003t0010g0250 a0001c0006t0001g0177 a0003c0005t0001g0102	186	358	0.5196	-50	c.237 others(67): Show c.237-6038_237-5989delTGTACATATACACATATGTATATATGTA CATGTGTATACATGTACATATA	ERG	ENSG00000157554.20	transcript	ENST00000288319.12	protein_coding	2/9			chr21	TogoVar
ERICH1_chr8_659200_736224	699717	GTGCACAG others(43): Show GTGCACAGACTCACAGGCGCACAGACACGCACACGTGCACACTCACACAG C	G G	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02055.hp1 HG02630.hp1 others(1): Show HG01952.hp1 HG02055.hp1 HG02630.hp1 NA20752.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0001c0003 a0012c0011 a0001c0001 a0001c0003 a0012c0011	a0001c0001t0001 a0001c0003t0001 a0001c0003t0004 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0004 a0012c0011t0002	a0001c0001t0001g0222 a0001c0003t0001g0217 a0001c0003t0004g0228 others(1): Show a0001c0001t0001g0222 a0001c0003t0001g0217 a0001c0003t0004g0228 a0012c0011t0002g0244	4	376	0.0106	-50	c.170 others(67): Show c.170-7155_170-7106delGCTGTGTGAGTGTGCACGTGTGCGTGTC TGTGCGCCTGTGAGTCTGTGCA	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH5_chr8_98059568_98098609	98073428	CTCTCTAT others(43): Show CTCTCTATATATATATATATATATATATATATGTATATATATATATATAT A	C C	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	438	0.0023	-50	c.58+ others(65): Show c.58+8703_58+8752delCTCTATATATATATATATATATATATATAT GTATATATATATATATATAT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERICH5_chr8_98059568_98098609	98073432	CTATATAT others(43): Show CTATATATATATATATATATATATATATGTATATATATATATATATATAT A	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01243.hp1 HG02055.hp1 others(4): Show HG01106.hp1 HG01243.hp1 HG02055.hp1 HG02300.hp2 HG03209.hp1 HG03688.hp1 NA18970.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0005c0005	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0005c0005t0001	a0001c0001t0001g0231 a0001c0001t0001g0257 a0001c0001t0001g0262 others(4): Show a0001c0001t0001g0231 a0001c0001t0001g0257 a0001c0001t0001g0262 a0001c0001t0001g0284 a0002c0002t0001g0365 a0003c0003t0001g0359 a0005c0005t0001g0045	7	338	0.0207	-50	c.58+ others(65): Show c.58+8709_58+8758delATATATATATATATATATATATATGTATAT ATATATATATATATATATAT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERICH5_chr8_98059568_98098609	98073466	ATATATAT others(43): Show ATATATATATATATATATATGTATATATATATATATATATATATATATAT G	A A	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0347 a0001c0001t0002g0347	1	418	0.0024	-50	c.58+ others(65): Show c.58+8759_58+8808delGTATATATATATATATATATATATATATAT GTATATATATATATATATAT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERN2_chr16_23685310_23718222	23713643	TTATGGGT others(43): Show TTATGGGTCAGGTAAGTGGCTCACCTCTGTAATCCCAGCACTTTGGGAGG C	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0013 a0013	a0013c0014 a0013c0014	a0013c0014t0002 a0013c0014t0002	a0013c0014t0002g0234 a0013c0014t0002g0234	1	410	0.0024	-50	c.-50 others(59): Show c.-506_-457delGCCTCCCAAAGTGCTGGGATTACAGAGGTGAGCCAC TTACCTGACCCATA	ERN2	ENSG00000134398.15	transcript	ENST00000256797.9	protein_coding		422		chr16	TogoVar
ESCO1_chr18_21524284_21605704	21592377	ACTGACCC others(43): Show ACTGACCCCCCCCACCTCCCTCCCAGATGGGGCGGCTGGCCGGGCGGGGG G	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0190 a0002c0002t0001g0190	1	308	0.0032	-50	c.-82 others(69): Show c.-824-7987_-824-7938delCCCCCCGCCCGGCCAGCCGCCCCATC TGGGAGGGAGGTGGGGGGGGTCAG	ESCO1	ENSG00000141446.11	transcript	ENST00000269214.10	protein_coding	1/11			chr18	TogoVar
ESPNL_chr2_238095340_238138287	238110603	TCTGTCCC others(43): Show TCTGTCCCAGGATCCCATTTAGGATGCCATATGATACCGAGTGTCCCTTT C	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00609.hp1 HG00639.hp2 others(53): Show HG00323.hp1 HG00609.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01123.hp1 HG01167.hp1 HG01175.hp2 HG01192.hp1 HG01257.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01516.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp2 HG02040.hp1 HG02071.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG02738.hp1 HG03491.hp1 HG03688.hp2 HG03831.hp1 HG06807.hp2 NA18947.hp2 NA18953.hp2 NA18977.hp1 NA18980.hp1 NA18985.hp2 NA18990.hp1 NA18997.hp1 NA19005.hp1 NA19055.hp2 NA19057.hp1 NA19066.hp1 NA19085.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0011 a0013 a0020 a0022 a0028	a0001c0033 a0001c0042 a0002c0020 others(14): Show a0001c0033 a0001c0042 a0002c0020 a0002c0058 a0003c0021 a0003c0036 a0003c0041 a0004c0003 a0004c0037 a0004c0060 a0005c0014 a0006c0061 a0011c0063 a0013c0064 a0020c0062 a0022c0130 a0028c0059	a0001c0033t0004 a0001c0042t0003 a0001c0042t0006 others(15): Show a0001c0033t0004 a0001c0042t0003 a0001c0042t0006 a0002c0020t0002 a0002c0058t0005 a0003c0021t0001 a0003c0036t0006 a0003c0041t0006 a0004c0003t0005 a0004c0037t0005 a0004c0060t0005 a0005c0014t0001 a0006c0061t0003 a0011c0063t0004 a0013c0064t0001 a0020c0062t0005 a0022c0130t0002 a0028c0059t0005	a0001c0033t0004g0304 a0001c0033t0004g0315 a0001c0033t0004g0328 others(51): Show a0001c0033t0004g0304 a0001c0033t0004g0315 a0001c0033t0004g0328 a0001c0042t0003g0284 a0001c0042t0006g0314 a0002c0020t0002g0036 a0002c0020t0002g0280 a0002c0020t0002g0302 a0002c0020t0002g0308 a0002c0020t0002g0310 a0002c0058t0005g0319 a0003c0021t0001g0278 a0003c0021t0001g0285 a0003c0021t0001g0293 a0003c0021t0001g0295 a0003c0021t0001g0317 a0003c0021t0001g0329 a0003c0036t0006g0035 a0003c0036t0006g0253 a0003c0041t0006g0290 a0003c0041t0006g0298 a0004c0003t0005g0279 a0004c0003t0005g0281 a0004c0003t0005g0287 a0004c0003t0005g0288 a0004c0003t0005g0291 a0004c0003t0005g0292 a0004c0003t0005g0296 a0004c0003t0005g0300 a0004c0003t0005g0301 a0004c0003t0005g0306 a0004c0003t0005g0307 a0004c0003t0005g0309 a0004c0003t0005g0313 a0004c0003t0005g0318 a0004c0003t0005g0321 a0004c0003t0005g0322 a0004c0003t0005g0324 a0004c0003t0005g0330 a0004c0037t0005g0232 a0004c0060t0005g0286 a0005c0014t0001g0282 a0005c0014t0001g0289 a0005c0014t0001g0299 a0005c0014t0001g0303 a0005c0014t0001g0305 a0005c0014t0001g0323 a0005c0014t0001g0325 a0006c0061t0003g0294 a0011c0063t0004g0320 a0013c0064t0001g0297 a0020c0062t0005g0311 a0022c0130t0002g0316 a0028c0059t0005g0312	56	338	0.1657	-50	c.855 others(67): Show c.855+2663_855+2712delATACCGAGTGTCCCTTTCCTGTCCCAGG ATCCCATTTAGGATGCCATATG	ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ESRRB_chr14_76371137_76506837	76476689	AGATGCGC others(43): Show AGATGCGCAGCTGCTGTATTGCACAAAGTTCTCAGCCATGGCGGCAGGGG C	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG06807.hp2 HG02818.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0031 a0001c0014t0009 a0001c0001t0031 a0001c0014t0009	a0001c0001t0031g0034 a0001c0014t0009g0143 a0001c0001t0031g0034 a0001c0014t0009g0143	2	316	0.0063	-50	c.578 others(67): Show c.578-5325_578-5276delATGCGCAGCTGCTGTATTGCACAAAGTT CTCAGCCATGGCGGCAGGGGCG	ESRRB	ENSG00000119715.15	transcript	ENST00000644823.1	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr14	TogoVar
ESYT2_chr7_158725997_158834509	158729370	CGTGGAGG others(43): Show CGTGGAGGTGCTGGGGGGAGGAGCAAGGTGGAGGTTGGGACTGGAGCAAA T	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0137 a0002c0002t0006g0137	1	361	0.0028	-50	c.47 others(61): Show c.4787_*4836delATTTGCTCCAGTCCCAACCTCCACCTTGCTCCTC CCCCCAGCACCTCCAC	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding		1626		chr7	TogoVar
ESYT2_chr7_158725997_158834509	158814409	GTTACTCG others(43): Show GTTACTCGTCCCGATTACTCTCACAGATCAAAAACGTTTTAAAAATATAC A	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0006 a0006	a0006c0025 a0006c0025	a0006c0025t0001 a0006c0025t0001	a0006c0025t0001g0261 a0006c0025t0001g0261	1	368	0.0027	-50	c.330 others(69): Show c.330+14630_330+14679delTGTATATTTTTAAAACGTTTTTGATC TGTGAGAGTAATCGGGACGAGTAA	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	1/22			chr7	TogoVar
EXOC2_chr6_480154_698139	519172	CCACCCAC others(43): Show CCACCCACTGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCA A	C C	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18948.hp1 NA18947.hp2 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0242 a0001c0001t0006g0255 a0001c0001t0001g0242 a0001c0001t0006g0255	2	270	0.0074	-50	c.238 others(71): Show c.2380+13247_2380+13296delTTGGTTCTCGTCTCCGAGTGTGGA CGGTGAGTGTCGGCGCTCAGTGGGTG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar

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