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
EML4_chr2_42164353_42337548	42325602	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01975.hp1 HG00673.hp1 HG01975.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0002 a0001c0001t0002 a0003c0003t0002	a0001c0001t0002g0218 a0003c0003t0002g0253 a0001c0001t0002g0218 a0003c0003t0002g0253	2	26	0.0769	19	c.224 others(34): Show c.2242+48_2242+49insATATATATATATATATATA	EML4	ENSG00000143924.19	transcript	ENST00000318522.10	protein_coding	20/22			chr2	TogoVar
EML5_chr14_88607431_88797953	88647687	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03579.hp1 HG02976.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0024 a0001c0001t0022 a0001c0001t0024	a0001c0001t0022g0203 a0001c0001t0024g0207 a0001c0001t0022g0203 a0001c0001t0024g0207	2	63	0.0317	19	c.402 others(36): Show c.4020-751_4020-733dupTTTTTTTTTTTTTTTTTTT	EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding	28/43			chr14	TogoVar
EML5_chr14_88607431_88797953	88759685	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02717.hp1 HG02809.hp1 others(6): Show HG01884.hp2 HG02717.hp1 HG02809.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG03098.hp1 HG03540.hp2 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0009 a0001c0001 a0001c0003 a0001c0009	a0001c0001t0024 a0001c0003t0004 a0001c0003t0013 others(1): Show a0001c0001t0024 a0001c0003t0004 a0001c0003t0013 a0001c0009t0013	a0001c0001t0024g0206 a0001c0003t0004g0303 a0001c0003t0004g0304 others(6): Show a0001c0001t0024g0206 a0001c0003t0004g0303 a0001c0003t0004g0304 a0001c0003t0004g0305 a0001c0003t0004g0314 a0001c0003t0004g0322 a0001c0003t0013g0299 a0001c0003t0013g0300 a0001c0009t0013g0301	9	98	0.0918	19	c.198 others(36): Show c.198-5033_198-5015dupTTTTTTTTTTTTTTTTTTT	EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding	1/43			chr14	TogoVar
EML6_chr2_54718662_54977025	54797164	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02109.hp1 HG03471.hp1 others(1): Show HG01978.hp1 HG02109.hp1 HG03471.hp1 NA18983.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0035 a0001c0001 a0001c0002 a0004c0035	a0001c0001t0001 a0001c0002t0024 a0004c0035t0012 a0001c0001t0001 a0001c0002t0024 a0004c0035t0012	a0001c0001t0001g0147 a0001c0001t0001g0178 a0001c0002t0024g0073 others(1): Show a0001c0001t0001g0147 a0001c0001t0001g0178 a0001c0002t0024g0073 a0004c0035t0012g0013	4	121	0.0331	19	c.198 others(38): Show c.198-16061_198-16043dupAAAAAAAAAAAAAAAAAAA	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54806612	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp1 NA18969.hp1 HG01070.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0187 a0001c0002t0003g0140 a0001c0001t0001g0187 a0001c0002t0003g0140	2	6	0.3333	19	c.198 others(36): Show c.198-6606_198-6588dupAAAAAAAAAAAAAAAAAAA	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54846923	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02738.hp1 NA19064.hp1 HG01952.hp1 HG02738.hp1 NA19064.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0009 a0001c0003t0001 a0001c0003t0009	a0001c0003t0001g0253 a0001c0003t0001g0261 a0001c0003t0009g0144 a0001c0003t0001g0253 a0001c0003t0001g0261 a0001c0003t0009g0144	3	89	0.0337	19	c.105 others(36): Show c.1050-550_1050-549insTTTTTTTTTTTTTTTTTTT	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	8/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54882857	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	94	0.0106	19	c.243 others(38): Show c.2438+3234_2438+3235insAAAAAAAAAAAAAAAAAAA	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	17/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54882873	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA18906.hp1 HG03041.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0010 a0001c0005t0001 a0001c0002t0010 a0001c0005t0001	a0001c0002t0010g0010 a0001c0005t0001g0052 a0001c0002t0010g0010 a0001c0005t0001g0052	2	223	0.0090	19	c.243 others(38): Show c.2438+3234_2438+3235insAAAAAAAAAAAAAAAAAGA	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	17/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54961184	G G	GTTGTTTT others(12): Show GTTGTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01175.hp2 HG01257.hp2 others(10): Show HG00735.hp1 HG01175.hp2 HG01257.hp2 HG01361.hp1 HG01496.hp1 HG01943.hp2 HG02148.hp2 HG02300.hp1 HG03239.hp2 NA18950.hp1 NA18993.hp2 NA18995.hp1 NA19064.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0009 a0001c0003t0015 others(1): Show a0001c0003t0002 a0001c0003t0009 a0001c0003t0015 a0001c0003t0027	a0001c0003t0002g0062 a0001c0003t0002g0148 a0001c0003t0002g0157 others(10): Show a0001c0003t0002g0062 a0001c0003t0002g0148 a0001c0003t0002g0157 a0001c0003t0002g0159 a0001c0003t0002g0176 a0001c0003t0002g0192 a0001c0003t0002g0204 a0001c0003t0002g0239 a0001c0003t0002g0255 a0001c0003t0009g0132 a0001c0003t0009g0144 a0001c0003t0015g0109 a0001c0003t0027g0149	13	34	0.3824	19	c.496 others(36): Show c.4968+852_4968+853insGTTTTTTTTTTTTTTTTTT	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	35/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54961184	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0030 a0001c0030	a0001c0030t0038 a0001c0030t0038	a0001c0030t0038g0074 a0001c0030t0038g0074	1	22	0.0455	19	c.496 others(36): Show c.4968+851_4968+869dupTTTTTTTTTTTTTTTTTTT	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	35/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EMSY_chr11_76440018_76558031	76518703	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0267 a0001c0001t0002g0267	1	177	0.0056	19	c.172 others(38): Show c.1729+2392_1729+2393insATATATATATATATATATT	EMSY	ENSG00000158636.17	transcript	ENST00000695367.1	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
ENAM_chr4_70623744_70651824	70648902	C C	CTCTTTTT others(12): Show CTCTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0022 a0004c0004t0005g0022	2	366	0.0055	19	c.40 others(30): Show c.4047_*4048insTCTTTTTTTTTTTTTTTTT	ENAM	ENSG00000132464.13	transcript	ENST00000396073.4	protein_coding		2079		chr4	TogoVar
ENDOD1_chr11_95084846_95137645	95108494	A A	ACACACAC others(12): Show ACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0322 a0004c0004t0005g0322	1	38	0.0263	19	c.300 others(38): Show c.300+18267_300+18268insCACACACACACACACACAC	ENDOD1	ENSG00000149218.5	transcript	ENST00000278505.5	protein_coding	1/1			chr11	TogoVar
ENDOD1_chr11_95084846_95137645	95108534	C C	CACACACA others(12): Show CACACACACACACACAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01099.hp2 HG00738.hp1 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0081 a0001c0001t0007g0082 a0001c0001t0007g0081 a0001c0001t0007g0082	2	365	0.0055	19	c.300 others(38): Show c.300+18308_300+18309insCACACACACACACAAAAAA	ENDOD1	ENSG00000149218.5	transcript	ENST00000278505.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr11	TogoVar
ENDOD1_chr11_95084846_95137645	95110579	A A	ATGTGTGG others(12): Show ATGTGTGGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA19003.hp2 NA18992.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0027 a0001c0001t0005g0028 a0001c0001t0005g0027 a0001c0001t0005g0028	2	361	0.0055	19	c.301 others(38): Show c.301-17795_301-17794insGTGGTGTGTGTGTGTGTGT	ENDOD1	ENSG00000149218.5	transcript	ENST00000278505.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr11	TogoVar
ENOSF1_chr18_665318_717630	667059	A A	AGATGGGT others(12): Show AGATGGGTGATGGTGATGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0087 a0001c0001t0002g0087	1	325	0.0031	19	c.72 others(30): Show c.7245_*7246insACCATCACCATCACCCATC	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		3258		chr18	TogoVar
ENOX1_chr13_43208130_43791972	43247883	A A	ATATATAT others(12): Show ATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0040 a0001c0001t0002g0040	1	8	0.1250	19	c.161 others(40): Show c.1612-11146_1612-11145insAAAAAAAAAAATATATATA	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	14/16			chr13	TogoVar
ENOX1_chr13_43208130_43791972	43247883	A A	ATATATTT others(12): Show ATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0169 a0001c0002t0006g0169	1	8	0.1250	19	c.161 others(40): Show c.1612-11146_1612-11145insAAAAAAAAAAAAAAATATA	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	14/16			chr13	TogoVar
ENOX1_chr13_43208130_43791972	43417242	C C	CGGGAGAC others(12): Show CGGGAGACGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0182 a0001c0001t0007g0182	1	68	0.0147	19	c.-74 others(36): Show c.-74-4255_-74-4254insTCTCCCTCTCCCGTCTCCC	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	3/16			chr13	TogoVar
ENOX1_chr13_43208130_43791972	43616204	A A	ATATATAT others(12): Show ATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01975.hp2 HG02273.hp1 HG01109.hp2 HG01975.hp2 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0010g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0010g0129	3	45	0.0667	19	c.-21 others(40): Show c.-219+51274_-219+51275insAAAAATATATATATATATA	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	2/16			chr13	TogoVar
ENOX1_chr13_43208130_43791972	43651695	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00738.hp2 HG01243.hp2 others(6): Show HG00621.hp1 HG00738.hp2 HG01243.hp2 HG02809.hp1 HG02886.hp2 HG03579.hp1 NA18970.hp1 NA18970.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0001c0009 others(1): Show a0001c0001 a0001c0005 a0001c0009 a0002c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0005t0003 a0001c0009t0001 a0002c0004t0024	a0001c0001t0002g0006 a0001c0001t0002g0011 a0001c0001t0003g0085 others(6): Show a0001c0001t0002g0006 a0001c0001t0002g0011 a0001c0001t0003g0085 a0001c0001t0004g0045 a0001c0001t0004g0122 a0001c0001t0004g0127 a0001c0005t0003g0052 a0001c0009t0001g0133 a0002c0004t0024g0051	9	125	0.0720	19	c.-21 others(40): Show c.-219+15783_-219+15784insTTTTTTTTTTTTTTTTTTT	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	2/16			chr13	TogoVar
ENPP3_chr6_131632302_131752410	131679026	C C	CTTCTTCT others(12): Show CTTCTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0010 a0010	a0010c0017 a0010c0017	a0010c0017t0001 a0010c0017t0001	a0010c0017t0001g0115 a0010c0017t0001g0115	1	95	0.0105	19	c.101 others(38): Show c.1011+1091_1011+1092insCTTTCTTTCTTTCTTTCTT	ENPP3	ENSG00000154269.15	transcript	ENST00000357639.8	protein_coding	11/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP3_chr6_131632302_131752410	131699235	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02027.hp1 HG02083.hp2 others(3): Show HG01993.hp1 HG02027.hp1 HG02083.hp2 NA19005.hp1 NA19054.hp1 NA19068.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0036 a0001c0002t0001g0059 a0001c0002t0001g0091 others(3): Show a0001c0002t0001g0036 a0001c0002t0001g0059 a0001c0002t0001g0091 a0001c0002t0001g0094 a0001c0002t0001g0101 a0001c0002t0001g0204	6	142	0.0423	19	c.141 others(38): Show c.1412+5614_1412+5632dupAAAAAAAAAAAAAAAAAAA	ENPP3	ENSG00000154269.15	transcript	ENST00000357639.8	protein_coding	15/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP6_chr4_184083706_184222873	184113899	T T	TTTCTTTC others(12): Show TTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0124 a0001c0002t0002g0124	1	89	0.0112	19	c.856 others(36): Show c.856-1091_856-1090insGAAAGAAAGAAAGAAAGAA	ENPP6	ENSG00000164303.11	transcript	ENST00000296741.7	protein_coding	5/7			chr4	TogoVar
ENTHD1_chr22_39738044_39898760	39766019	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0163 a0001c0001t0002g0163	1	34	0.0294	19	c.833 others(34): Show c.833-429_833-411dupTTTTTTTTTTTTTTTTTTT	ENTHD1	ENSG00000176177.10	transcript	ENST00000325157.7	protein_coding	5/6			chr22	TogoVar
ENTPD1_chr10_95751163_95882266	95758002	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01261.hp2 HG02055.hp2 others(2): Show HG01074.hp1 HG01261.hp2 HG02055.hp2 NA18612.hp1 NA19005.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0003 a0004c0007 a0001c0001 a0002c0003 a0004c0007	a0001c0001t0004 a0001c0001t0016 a0002c0003t0040 others(1): Show a0001c0001t0004 a0001c0001t0016 a0002c0003t0040 a0004c0007t0016	a0001c0001t0004g0181 a0001c0001t0004g0182 a0001c0001t0016g0183 others(2): Show a0001c0001t0004g0181 a0001c0001t0004g0182 a0001c0001t0016g0183 a0002c0003t0040g0172 a0004c0007t0016g0184	5	228	0.0219	19	c.16+ others(34): Show c.16+1757_16+1775dupAAAAAAAAAAAAAAAAAAA	ENTPD1	ENSG00000138185.20	transcript	ENST00000371205.5	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
ENTPD1_chr10_95751163_95882266	95760814	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0135 a0001c0001t0006g0135	1	39	0.0256	19	c.16+ others(34): Show c.16+4574_16+4592dupTTTTTTTTTTTTTTTTTTT	ENTPD1	ENSG00000138185.20	transcript	ENST00000371205.5	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
ENTPD4_chr8_23424162_23462647	23427124	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG01099.hp1 HG02145.hp1 others(5): Show HG00140.hp1 HG01099.hp1 HG02145.hp1 HG02258.hp1 HG02615.hp2 NA18957.hp2 NA18962.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0039 a0001c0001t0001 a0001c0001t0039	a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0039g0114 a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0039g0114	8	49	0.1633	19	c.57 others(30): Show c.5783_*5801dupTTTTTTTTTTTTTTTTTTT	ENTPD4	ENSG00000197217.13	transcript	ENST00000358689.9	protein_coding		2037		chr8	TogoVar
ENTPD8_chr9_137429364_137446357	137440650	C C	CCCCCCCC others(12): Show CCCCCCCCAGACCAGGACAG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	222	0.0045	19	c.-21 others(34): Show c.-21+635_-21+636insCTGTCCTGGTCTGGGGGGG	ENTPD8	ENSG00000188833.10	transcript	ENST00000371506.7	protein_coding	1/9			chr9	TogoVar
ENTPD8_chr9_137429364_137446357	137440725	G G	GCCCCCCA others(12): Show GCCCCCCAGACCAGGACAGC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03225.hp1 HG03471.hp1 others(1): Show HG02886.hp2 HG03225.hp1 HG03471.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 a0001c0001t0001 a0001c0001t0002 a0001c0005t0001	a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0002g0059 others(1): Show a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0002g0059 a0001c0005t0001g0057	4	385	0.0104	19	c.-21 others(34): Show c.-21+542_-21+560dupGCTGTCCTGGTCTGGGGGG	ENTPD8	ENSG00000188833.10	transcript	ENST00000371506.7	protein_coding	1/9			chr9	TogoVar
ENTPD8_chr9_137429364_137446357	137440964	T T	TCCCCCAG others(12): Show TCCCCCAGACCAGGACAGCC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0052 a0001c0001t0003g0052	1	207	0.0048	19	c.-21 others(34): Show c.-21+303_-21+321dupGGCTGTCCTGGTCTGGGGG	ENTPD8	ENSG00000188833.10	transcript	ENST00000371506.7	protein_coding	1/9			chr9	TogoVar
ENTPD8_chr9_137429364_137446357	137441092	C C	CCCCCCCC others(12): Show CCCCCCCCAGACCAGGACAG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02897.hp2 HG03540.hp2 others(1): Show HG02630.hp2 HG02897.hp2 HG03540.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0105 a0001c0001t0002g0053 a0001c0001t0003g0052 others(1): Show a0001c0001t0001g0105 a0001c0001t0002g0053 a0001c0001t0003g0052 a0001c0001t0003g0054	4	383	0.0104	19	c.-21 others(34): Show c.-21+193_-21+194insCTGTCCTGGTCTGGGGGGG	ENTPD8	ENSG00000188833.10	transcript	ENST00000371506.7	protein_coding	1/9			chr9	TogoVar
ENTPD8_chr9_137429364_137446357	137441201	G G	GCCCCCCA others(12): Show GCCCCCCAGACCAGGACAGC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	385	0.0026	19	c.-21 others(32): Show c.-21+66_-21+84dupGCTGTCCTGGTCTGGGGGG	ENTPD8	ENSG00000188833.10	transcript	ENST00000371506.7	protein_coding	1/9			chr9	TogoVar
ENTREP1_chr9_69320215_69397456	69335834	A A	ATGCGCCT others(12): Show ATGCGCCTGTAGTCCTGACG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00597.hp2 HG00673.hp2 others(72): Show HG00280.hp2 HG00597.hp2 HG00673.hp2 HG00738.hp2 HG01074.hp2 HG02055.hp2 HG02071.hp2 HG02074.hp2 HG02109.hp2 HG02132.hp1 HG02258.hp2 HG02280.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02965.hp1 HG02970.hp2 HG03098.hp1 HG03209.hp2 HG03239.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03831.hp2 HG04115.hp1 HG04184.hp1 HG04204.hp1 NA18522.hp1 NA18949.hp1 NA18951.hp2 NA18954.hp2 NA18955.hp1 NA18960.hp1 NA18962.hp2 NA18966.hp1 NA18967.hp1 NA18978.hp1 NA18985.hp2 NA18987.hp2 NA18991.hp2 NA18992.hp1 NA18998.hp2 NA19003.hp2 NA19004.hp2 NA19009.hp2 NA19012.hp2 NA19054.hp2 NA19056.hp1 NA19058.hp2 NA19070.hp1 NA19072.hp2 NA19074.hp1 NA19077.hp1 NA19079.hp1 NA19081.hp1 NA19087.hp2 NA19090.hp1 NA19240.hp2 NA20129.hp1 NA20752.hp2 NA20805.hp2	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0006	a0001c0001 a0003c0006 a0005c0005 others(1): Show a0001c0001 a0003c0006 a0005c0005 a0006c0007	a0001c0001t0001 a0001c0001t0002 a0003c0006t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0003c0006t0001 a0005c0005t0001 a0006c0007t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(65): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0054 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0306 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0122 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0193 a0001c0001t0002g0231 a0001c0001t0002g0283 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0291 a0001c0001t0002g0309 a0003c0006t0001g0209 a0005c0005t0001g0221 a0006c0007t0001g0030	75	216	0.3472	19	c.415 others(34): Show c.415-363_415-345dupGACGTGCGCCTGTAGTCCT	ENTREP1	ENSG00000135063.20	transcript	ENST00000303068.14	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
ENTREP2_chr15_29115252_29575979	29138581	A A	ATGTGCAT others(12): Show ATGTGCATATGTTATGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01081.hp1 HG01081.hp2 others(50): Show HG00099.hp1 HG01081.hp1 HG01081.hp2 HG01167.hp2 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp2 HG01496.hp1 HG01891.hp2 HG02055.hp1 HG02074.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02451.hp2 HG02486.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03540.hp1 HG03579.hp2 NA18906.hp1 NA18906.hp2 NA19009.hp2 NA19030.hp1 NA19065.hp2 NA20300.hp1 NA20300.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009	a0001c0001 a0001c0002 a0001c0008 others(24): Show a0001c0001 a0001c0002 a0001c0008 a0001c0010 a0001c0019 a0001c0039 a0002c0003 a0002c0004 a0002c0005 a0002c0009 a0002c0012 a0002c0015 a0003c0006 a0003c0007 a0003c0014 a0003c0030 a0003c0034 a0004c0017 a0004c0032 a0005c0016 a0005c0018 a0005c0038 a0006c0029 a0006c0033 a0006c0037 a0008c0040 a0009c0026	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(34): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0008t0007 a0001c0008t0036 a0001c0010t0001 a0001c0010t0004 a0001c0010t0025 a0001c0019t0001 a0001c0039t0038 a0002c0003t0013 a0002c0003t0027 a0002c0003t0032 a0002c0003t0034 a0002c0004t0015 a0002c0005t0005 a0002c0009t0003 a0002c0012t0009 a0002c0015t0044 a0003c0006t0001 a0003c0006t0002 a0003c0006t0046 a0003c0007t0002 a0003c0007t0042 a0003c0014t0002 a0003c0030t0047 a0003c0034t0002 a0004c0017t0008 a0004c0032t0014 a0005c0016t0006 a0005c0018t0006 a0005c0038t0006 a0006c0029t0029 a0006c0033t0049 a0006c0037t0018 a0008c0040t0012 a0009c0026t0001	a0001c0001t0001g0069 a0001c0001t0001g0098 a0001c0001t0002g0060 others(50): Show a0001c0001t0001g0069 a0001c0001t0001g0098 a0001c0001t0002g0060 a0001c0001t0002g0099 a0001c0002t0001g0082 a0001c0008t0007g0039 a0001c0008t0007g0065 a0001c0008t0007g0106 a0001c0008t0036g0045 a0001c0010t0001g0088 a0001c0010t0004g0005 a0001c0010t0025g0001 a0001c0019t0001g0033 a0001c0019t0001g0058 a0001c0039t0038g0049 a0002c0003t0013g0010 a0002c0003t0013g0029 a0002c0003t0027g0003 a0002c0003t0032g0109 a0002c0003t0034g0059 a0002c0004t0015g0012 a0002c0005t0005g0057 a0002c0005t0005g0095 a0002c0005t0005g0100 a0002c0009t0003g0077 a0002c0012t0009g0061 a0002c0012t0009g0091 a0002c0012t0009g0092 a0002c0015t0044g0083 a0003c0006t0001g0108 a0003c0006t0002g0081 a0003c0006t0002g0107 a0003c0006t0046g0037 a0003c0007t0002g0074 a0003c0007t0002g0087 a0003c0007t0002g0094 a0003c0007t0002g0121 a0003c0007t0042g0038 a0003c0014t0002g0067 a0003c0030t0047g0120 a0003c0034t0002g0046 a0004c0017t0008g0024 a0004c0032t0014g0017 a0005c0016t0006g0032 a0005c0016t0006g0079 a0005c0018t0006g0084 a0005c0018t0006g0110 a0005c0038t0006g0117 a0006c0029t0029g0093 a0006c0033t0049g0123 a0006c0037t0018g0004 a0008c0040t0012g0026 a0009c0026t0001g0072	53	123	0.4309	19	c.631 others(36): Show c.631-1388_631-1387insCACACATAACATATGCACA	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	5/10			chr15	TogoVar
ENTREP2_chr15_29115252_29575979	29444170	C C	CAGACACG others(12): Show CAGACACGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03098.hp2 HG03486.hp2 others(1): Show HG02145.hp1 HG03098.hp2 HG03486.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0011 a0002c0004 a0002c0005 others(1): Show a0001c0011 a0002c0004 a0002c0005 a0002c0009	a0001c0011t0010 a0002c0004t0015 a0002c0005t0003 others(1): Show a0001c0011t0010 a0002c0004t0015 a0002c0005t0003 a0002c0009t0003	a0001c0011t0010g0053 a0002c0004t0015g0012 a0002c0005t0003g0076 others(1): Show a0001c0011t0010g0053 a0002c0004t0015g0012 a0002c0005t0003g0076 a0002c0009t0003g0044	4	41	0.0976	19	c.220 others(38): Show c.220-62340_220-62339insCTTTCTTTCTTTCGTGTCT	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	1/10			chr15	TogoVar
ENTREP2_chr15_29115252_29575979	29478025	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02809.hp1 HG03130.hp1 HG02258.hp2 HG02809.hp1 HG03130.hp1	a0002 a0003 a0002 a0003	a0002c0005 a0002c0009 a0003c0023 a0002c0005 a0002c0009 a0003c0023	a0002c0005t0020 a0002c0009t0015 a0003c0023t0022 a0002c0005t0020 a0002c0009t0015 a0003c0023t0022	a0002c0005t0020g0006 a0002c0009t0015g0007 a0003c0023t0022g0008 a0002c0005t0020g0006 a0002c0009t0015g0007 a0003c0023t0022g0008	3	124	0.0242	19	c.219 others(38): Show c.219+92479_219+92480insTATATATATATATATATAT	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	1/10			chr15	TogoVar
ENTREP3_chr1_155242205_155260483	155252723	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	355	0.0028	19	c.622 others(34): Show c.622-819_622-818insTATATATATATATATATAT	ENTREP3	ENSG00000160767.23	transcript	ENST00000361361.7	protein_coding	5/11			chr1	TogoVar
EOMES_chr3_27710953_27727323	27711316	A A	ATATATAT others(12): Show ATATATATATATATATATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	240	0.0042	19	c.57 others(30): Show c.5753_*5754insAAATATATATATATATATA	EOMES	ENSG00000163508.13	transcript	ENST00000449599.4	protein_coding		4636		chr3	TogoVar
EOMES_chr3_27710953_27727323	27711316	A A	ATATATAT others(12): Show ATATATATATATATATTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG02300.hp2 HG02723.hp1 HG00639.hp1 HG02300.hp2 HG02723.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0008 a0002c0002t0002g0010 a0002c0002t0002g0019 a0002c0002t0002g0008 a0002c0002t0002g0010 a0002c0002t0002g0019	3	242	0.0124	19	c.57 others(30): Show c.5753_*5754insAAAAATATATATATATATA	EOMES	ENSG00000163508.13	transcript	ENST00000449599.4	protein_coding		4636		chr3	TogoVar
EOMES_chr3_27710953_27727323	27711316	A A	ATATATAT others(12): Show ATATATATATATATTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp1 NA18960.hp2 HG03491.hp1 NA18960.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0041 a0002c0002t0002g0008 a0002c0002t0001g0041 a0002c0002t0002g0008	2	241	0.0083	19	c.57 others(30): Show c.5753_*5754insAAAAAAATATATATATATA	EOMES	ENSG00000163508.13	transcript	ENST00000449599.4	protein_coding		4636		chr3	TogoVar
EP300_chr22_41087592_41185077	41154376	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00609.hp1 others(6): Show HG00099.hp2 HG00280.hp2 HG00609.hp1 HG01109.hp2 HG01943.hp1 HG02071.hp2 HG02572.hp1 HG03130.hp2 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0009 a0002c0003 others(1): Show a0001c0002 a0001c0009 a0002c0003 a0002c0024	a0001c0002t0002 a0001c0002t0019 a0001c0009t0001 others(2): Show a0001c0002t0002 a0001c0002t0019 a0001c0009t0001 a0002c0003t0002 a0002c0024t0002	a0001c0002t0002g0164 a0001c0002t0002g0168 a0001c0002t0019g0102 others(6): Show a0001c0002t0002g0164 a0001c0002t0002g0168 a0001c0002t0019g0102 a0001c0009t0001g0200 a0002c0003t0002g0155 a0002c0003t0002g0156 a0002c0003t0002g0170 a0002c0003t0002g0181 a0002c0024t0002g0159	9	88	0.1023	19	c.314 others(36): Show c.3143-614_3143-596dupTTTTTTTTTTTTTTTTTTT	EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding	16/30		INFO_REALIGN_3_PRIME	chr22	TogoVar
EP400_chr12_131944942_132085460	132053855	C C	CAGCTCCT others(12): Show CAGCTCCTTTTAGTGGAGGT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0208 a0002c0001t0001g0208	1	206	0.0049	19	c.772 others(36): Show c.7728+259_7728+277dupAGCTCCTTTTAGTGGAGGT	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	43/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
EP400_chr12_131944942_132085460	132055546	T T	TGTGTGTG others(12): Show TGTGTGTGTGAGGTGTAGGG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG02965.hp1 others(5): Show HG01167.hp1 HG01169.hp2 HG02965.hp1 HG02976.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG06807.hp2	a0003 a0008 a0003 a0008	a0003c0009 a0003c0010 a0008c0028 a0003c0009 a0003c0010 a0008c0028	a0003c0009t0004 a0003c0010t0004 a0008c0028t0004 a0003c0009t0004 a0003c0010t0004 a0008c0028t0004	a0003c0009t0004g0078 a0003c0009t0004g0079 a0003c0009t0004g0152 others(5): Show a0003c0009t0004g0078 a0003c0009t0004g0079 a0003c0009t0004g0152 a0003c0009t0004g0155 a0003c0010t0004g0149 a0003c0010t0004g0153 a0003c0010t0004g0156 a0008c0028t0004g0154	8	206	0.0388	19	c.788 others(36): Show c.7884+360_7884+378dupGTGTGTGAGGTGTAGGGGT	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	45/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
EP400_chr12_131944942_132085460	132058353	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0004 a0004	a0004c0047 a0004c0047	a0004c0047t0001 a0004c0047t0001	a0004c0047t0001g0070 a0004c0047t0001g0070	1	94	0.0106	19	c.788 others(38): Show c.7884+3146_7884+3164dupTTTTTTTTTTTTTTTTTTT	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	45/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
EP400_chr12_131944942_132085460	132073459	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02145.hp2 HG02559.hp1 others(7): Show HG01106.hp1 HG02145.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02886.hp2 HG02922.hp2 HG02976.hp2 HG03225.hp1 HG03471.hp2	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0021 a0004c0004 a0004c0030 others(1): Show a0001c0021 a0004c0004 a0004c0030 a0006c0020	a0001c0021t0006 a0004c0004t0002 a0004c0030t0002 others(1): Show a0001c0021t0006 a0004c0004t0002 a0004c0030t0002 a0006c0020t0002	a0001c0021t0006g0056 a0004c0004t0002g0053 a0004c0004t0002g0058 others(7): Show a0001c0021t0006g0056 a0004c0004t0002g0053 a0004c0004t0002g0058 a0004c0004t0002g0059 a0004c0004t0002g0063 a0004c0004t0002g0066 a0004c0004t0002g0069 a0004c0004t0002g0075 a0004c0030t0002g0064 a0006c0020t0002g0028	10	96	0.1042	19	c.902 others(38): Show c.9022-3043_9022-3042insTTTTTTTTTTTTTTTTTTT	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	51/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
EPAS1_chr2_46292407_46391697	46359257	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04115.hp1 NA19087.hp2 HG04115.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0254 a0001c0001t0001g0155 a0001c0001t0001g0254	2	63	0.0317	19	c.455 others(36): Show c.455-1375_455-1357dupAAAAAAAAAAAAAAAAAAA	EPAS1	ENSG00000116016.14	transcript	ENST00000263734.5	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
EPB41L2_chr6_130834347_131068245	130951312	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01168.hp1 HG01070.hp2 HG01168.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0329 a0001c0002t0002g0342 a0001c0002t0002g0329 a0001c0002t0002g0342	2	81	0.0247	19	c.705 others(36): Show c.705+3774_705+3792dupAAAAAAAAAAAAAAAAAAA	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	3/19			chr6	TogoVar
EPB41L2_chr6_130834347_131068245	130954040	C C	CTTTCTTT others(12): Show CTTTCTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp2 NA18995.hp2 HG01071.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0153 a0001c0001t0012g0137 a0001c0001t0001g0153 a0001c0001t0012g0137	2	47	0.0426	19	c.705 others(36): Show c.705+1064_705+1065insAAAAAAAAAAAAAAAGAAA	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	3/19			chr6	TogoVar
EPB41L2_chr6_130834347_131068245	130954040	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18959.hp2 NA18953.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0315 a0001c0001t0001g0285 a0001c0001t0001g0315	2	47	0.0426	19	c.705 others(36): Show c.705+1046_705+1064dupAAAAAAAAAAAAAAAAAAA	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	3/19			chr6	TogoVar

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