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
ELMOD1_chr11_107586147_107671779	107590332	TTCTCTCT others(37): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG01099.hp2 HG02723.hp2 others(3): Show HG00738.hp2 HG01099.hp2 HG02723.hp2 HG02886.hp1 HG02895.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0009 a0001c0002t0005 others(2): Show a0001c0001t0002 a0001c0001t0009 a0001c0002t0005 a0001c0002t0010 a0001c0002t0027	a0001c0001t0002g0267 a0001c0001t0009g0266 a0001c0002t0005g0288 others(3): Show a0001c0001t0002g0267 a0001c0001t0009g0266 a0001c0002t0005g0288 a0001c0002t0005g0289 a0001c0002t0010g0316 a0001c0002t0027g0268	6	342	0.0175	-44	c.-11 others(55): Show c.-1162_-1119delTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTC	ELMOD1	ENSG00000110675.13	transcript	ENST00000265840.12	protein_coding		814		chr11	TogoVar
ELOC_chr8_73940119_73977191	73976049	AGGCGGCA others(37): Show AGGCGGCAGGCGGGCGGCAGGCGGGCGGCAGGCGGGCGGCAGGCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 NA19009.hp1 HG02572.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0146 a0001c0001t0007g0104 a0001c0001t0001g0146 a0001c0001t0007g0104	2	404	0.0050	-44	c.-40 others(55): Show c.-4067_-4024delCGCCTGCCGCCCGCCTGCCGCCCGCCTGCCGCCC GCCTGCCGCC	ELOC	ENSG00000154582.18	transcript	ENST00000520242.6	protein_coding		3859		chr8	TogoVar
ELOVL7_chr5_60746791_60849269	60802081	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATATACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00673.hp1 HG01167.hp1 others(46): Show HG00099.hp2 HG00673.hp1 HG01167.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp2 HG02602.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02886.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG03130.hp2 HG03195.hp2 HG03225.hp2 HG04115.hp1 HG06807.hp1 NA18522.hp1 NA18612.hp2 NA18906.hp2 NA18959.hp2 NA18968.hp1 NA18970.hp1 NA18997.hp2 NA19003.hp1 NA19003.hp2 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19058.hp2 NA19060.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0018	a0001c0001t0001g0040 a0001c0001t0001g0131 a0001c0001t0001g0151 others(45): Show a0001c0001t0001g0040 a0001c0001t0001g0131 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0173 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0002g0183 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0206 a0001c0001t0003g0006 a0001c0001t0003g0038 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0150 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0184 a0001c0001t0003g0192 a0001c0001t0008g0205 a0001c0001t0018g0039	49	258	0.1899	-44	c.-85 others(61): Show c.-85-2895_-85-2852delGTGTGTGTATATATATATATATATATAT ATATATATATATATAT	ELOVL7	ENSG00000164181.14	transcript	ENST00000508821.6	protein_coding	1/8			chr5	TogoVar
ELSPBP1_chr19_47989632_48030154	48016456	TTTTCTTT others(37): Show TTTTCTTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0099 a0002c0002t0001g0099	1	388	0.0026	-44	c.355 others(59): Show c.355+426_355+469delCTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTC	ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
ELSPBP1_chr19_47989632_48030154	48016503	TCTTTCTT others(37): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTCCTTCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0167 a0003c0003t0002g0167	1	388	0.0026	-44	c.355 others(59): Show c.355+468_355+511delTCTTTCTTTCTTTCTTTCTTTCTTCCTTCC TTCCTTCCTTCCTT	ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
EML1_chr14_99788413_99947060	99927643	GTGGTAGA others(37): Show GTGGTAGAGTTCATATAGGAAAGTCAGAATTAATGCTTGATTTCA	G G	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0011	a0001c0004t0011g0156 a0001c0004t0011g0156	1	288	0.0035	-44	c.190 others(63): Show c.1909+6768_1909+6811delGGTAGAGTTCATATAGGAAAGTCAGA ATTAATGCTTGATTTCAT	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EMP3_chr19_48320552_48335553	48334410	TTTTCTCT others(37): Show TTTTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01070.hp1 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0027 a0001c0001t0003g0027	2	376	0.0053	-44	c.39 others(55): Show c.3941_*3984delTTTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTC	EMP3	ENSG00000142227.11	transcript	ENST00000270221.11	protein_coding		3858		chr19	TogoVar
EMP3_chr19_48320552_48335553	48334416	CTCTTTCT others(37): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02965.hp1 NA19030.hp1 HG02258.hp1 HG02965.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0026 a0001c0001t0003g0045 a0001c0001t0003g0026 a0001c0001t0003g0045	3	376	0.0080	-44	c.39 others(55): Show c.3947_*3990delTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTT	EMP3	ENSG00000142227.11	transcript	ENST00000270221.11	protein_coding		3864		chr19	TogoVar
ENPP3_chr6_131632302_131752410	131678942	TTTCTTTC others(37): Show TTTCTTTCTTTCTTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0193 a0006c0009t0001g0193	1	278	0.0036	-44	c.101 others(63): Show c.1011+1006_1011+1049delTTTCTTTCTTTCTTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTC	ENPP3	ENSG00000154269.15	transcript	ENST00000357639.8	protein_coding	11/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
EPHA6_chr3_96809594_97766532	97363171	AATATATA others(37): Show AATATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0053 a0001c0002t0006g0053	1	82	0.0122	-44	c.160 others(65): Show c.1607-41955_1607-41912delTATATATATATATATATATATATA TATATATATATATATATATA	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
ERAP1_chr5_96769484_96812945	96808187	CGTGTGTG others(37): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0003 a0007c0008t0003	a0007c0008t0003g0212 a0007c0008t0003g0212	1	416	0.0024	-44	c.-38 others(53): Show c.-389_-346delACACACACACACACACACACACACACACACACACAC ACACACAC	ERAP1	ENSG00000164307.13	transcript	ENST00000443439.7	protein_coding		243		chr5	TogoVar
ERBB4_chr2_211370717_212543802	211772808	GATATATA others(37): Show GATATATATATATATATATATATATATACACATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03453.hp2 HG03516.hp1 HG03195.hp2 HG03453.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0025 a0001c0001t0002g0047 a0001c0001t0009g0023 a0001c0001t0002g0025 a0001c0001t0002g0047 a0001c0001t0009g0023	3	56	0.0536	-44	c.556 others(63): Show c.556+15173_556+15216delATATATATATATATGTGTATATATAT ATATATATATATATATAT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	4/27			chr2	TogoVar
ERC1_chr12_986223_1500931	1090890	ATTATTAT others(37): Show ATTATTATTATTATTATTATTATCATTTGTGACAGAGCTTTGCTC	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01884.hp1 HG01891.hp2 others(9): Show HG01496.hp1 HG01884.hp1 HG01891.hp2 HG02809.hp1 HG02970.hp1 HG02976.hp1 HG03579.hp1 HG04199.hp1 HG06807.hp1 NA19043.hp2 NA19240.hp1 NA20905.hp2	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0008	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0007c0012 a0008c0011	a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 others(9): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 a0001c0001t0071 a0001c0003t0092 a0002c0002t0042 a0002c0002t0048 a0002c0002t0064 a0002c0002t0065 a0002c0002t0075 a0007c0012t0073 a0008c0011t0044	a0001c0001t0001g0080 a0001c0001t0004g0075 a0001c0001t0011g0020 others(9): Show a0001c0001t0001g0080 a0001c0001t0004g0075 a0001c0001t0011g0020 a0001c0001t0071g0074 a0001c0003t0092g0004 a0002c0002t0042g0079 a0002c0002t0048g0070 a0002c0002t0064g0069 a0002c0002t0065g0072 a0002c0002t0075g0073 a0007c0012t0073g0067 a0008c0011t0044g0068	12	162	0.0741	-44	c.108 others(63): Show c.1086+7312_1086+7355delTATTATTATTATTATTATTATCATTT GTGACAGAGCTTTGCTCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC2_chr3_55503311_56473467	56348863	GAAAGAAA others(37): Show GAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03195.hp1 HG02630.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0014 a0001c0002t0001g0042 a0001c0002t0001g0014 a0001c0002t0001g0042	2	74	0.0270	-44	c.658 others(63): Show c.658-52472_658-52429delTTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTTCTTT	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	2/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	56348923	GGAAGGAA others(37): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0017 a0001c0002t0001g0017	1	74	0.0135	-44	c.658 others(63): Show c.658-52532_658-52489delTTTCTTTCTTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTC	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	2/17			chr3	TogoVar
ERICH1_chr8_659200_736224	659519	GGGAGGGG others(37): Show GGGAGGGGGTGACCATCGAGATCTCCGGTGTGCACTGAGCATCCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	378	0.0027	-44	c.50 others(55): Show c.5040_*5083delAGGATGCTCAGTGCACACCGGAGATCTCGATGGT CACCCCCTCC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding		4680		chr8	TogoVar
ERICH1_chr8_659200_736224	696553	TCTCCTTC others(37): Show TCTCCTTCCTCCCCATCAGCCTGTACTCGCTCCTCTTACCCTCCA	T T	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02809.hp2 HG03579.hp1 others(1): Show HG02165.hp2 HG02809.hp2 HG03579.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0009 a0001c0001t0001g0170 a0001c0001t0002g0357 others(1): Show a0001c0001t0001g0009 a0001c0001t0001g0170 a0001c0001t0002g0357 a0001c0001t0002g0363	4	378	0.0106	-44	c.170 others(61): Show c.170-3985_170-3942delTGGAGGGTAAGAGGAGCGAGTACAGGCT GATGGGGAGGAAGGAG	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH1_chr8_659200_736224	700101	CCGCACAC others(37): Show CCGCACACGCGCACACACCCTCACAGGCGCACAGACCCGCACAGG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00609.hp1 others(93): Show HG00099.hp1 HG00140.hp2 HG00609.hp1 HG00673.hp2 HG00738.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01358.hp1 HG01361.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02293.hp2 HG02451.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02738.hp2 HG03041.hp1 HG03209.hp1 HG03239.hp2 HG03491.hp2 HG03654.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 NA18747.hp1 NA18747.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18960.hp1 NA18964.hp2 NA18969.hp2 NA18970.hp2 NA18980.hp1 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18990.hp1 NA18991.hp1 NA19002.hp2 NA19005.hp2 NA19007.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19056.hp2 NA19068.hp1 NA19074.hp1 NA19078.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19084.hp2 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19089.hp1 NA19090.hp1 NA19091.hp2 NA20129.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0001c0002 a0001c0009 others(1): Show a0001c0001 a0001c0002 a0001c0009 a0010c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0009t0001 a0010c0012t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0015 others(90): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0121 a0001c0001t0001g0146 a0001c0001t0001g0164 a0001c0001t0001g0182 a0001c0001t0001g0192 a0001c0001t0001g0203 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0220 a0001c0001t0001g0227 a0001c0001t0001g0241 a0001c0001t0002g0290 a0001c0001t0003g0108 a0001c0002t0001g0005 a0001c0002t0001g0013 a0001c0002t0001g0074 a0001c0002t0001g0076 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0083 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0102 a0001c0002t0001g0106 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0002g0265 a0001c0002t0002g0270 a0001c0002t0002g0279 a0001c0009t0001g0120 a0001c0009t0001g0234 a0010c0012t0001g0119	96	378	0.2540	-44	c.170 others(61): Show c.170-7533_170-7490delCCTGTGCGGGTCTGTGCGCCTGTGAGGG TGTGTGCGCGTGTGCG	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH5_chr8_98059568_98098609	98073432	CTATATAT others(37): Show CTATATATATATATATATATATATATATGTATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01952.hp2 HG02273.hp1 others(1): Show HG01884.hp1 HG01952.hp2 HG02273.hp1 HG03491.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0003c0003t0004 a0001c0001t0001 a0001c0001t0002 a0003c0003t0004	a0001c0001t0001g0127 a0001c0001t0001g0227 a0001c0001t0002g0246 others(1): Show a0001c0001t0001g0127 a0001c0001t0001g0227 a0001c0001t0002g0246 a0003c0003t0004g0367	4	442	0.0091	-44	c.58+ others(59): Show c.58+8715_58+8758delATATATATATATATATATGTATATATATAT ATATATATATATAT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERICH5_chr8_98059568_98098609	98073472	ATATATAT others(37): Show ATATATATATATATGTATATATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG02818.hp1 NA19074.hp1 others(2): Show HG01515.hp1 HG02818.hp1 NA19074.hp1 NA19085.hp2 NA19091.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0004c0004t0001 a0001c0001t0001 a0001c0001t0002 a0004c0004t0001	a0001c0001t0001g0252 a0001c0001t0001g0261 a0001c0001t0002g0253 others(2): Show a0001c0001t0001g0252 a0001c0001t0001g0261 a0001c0001t0002g0253 a0001c0001t0002g0359 a0004c0004t0001g0428	5	442	0.0113	-44	c.58+ others(59): Show c.58+8759_58+8802delGTATATATATATATATATATATATATATAT GTATATATATATAT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
ESF1_chr20_13709325_13789919	13748517	CACATATA others(37): Show CACATATATATATACACATATATATGTGTGTGTATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00642.hp2 HG01109.hp1 others(5): Show HG00280.hp1 HG00642.hp2 HG01109.hp1 HG01361.hp2 HG02257.hp1 HG02970.hp1 HG03098.hp1 NA18982.hp1	a0002 a0009 a0002 a0009	a0002c0003 a0009c0018 a0002c0003 a0009c0018	a0002c0003t0003 a0009c0018t0003 a0002c0003t0003 a0009c0018t0003	a0002c0003t0003g0130 a0002c0003t0003g0131 a0002c0003t0003g0132 others(5): Show a0002c0003t0003g0130 a0002c0003t0003g0131 a0002c0003t0003g0132 a0002c0003t0003g0133 a0002c0003t0003g0134 a0002c0003t0003g0361 a0002c0003t0003g0362 a0009c0018t0003g0135	8	390	0.0205	-44	c.182 others(65): Show c.1828+11131_1828+11174delATATATATATATACACACACATAT ATATGTGTATATATATATGT	ESF1	ENSG00000089048.15	transcript	ENST00000617257.2	protein_coding	9/13			chr20	TogoVar
ESYT2_chr7_158725997_158834509	158814303	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01071.hp2 HG01993.hp2 others(4): Show HG00642.hp1 HG01071.hp2 HG01993.hp2 HG02698.hp2 HG02723.hp2 HG03491.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0024 a0001c0001 a0001c0024	a0001c0001t0001 a0001c0024t0001 a0001c0001t0001 a0001c0024t0001	a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 others(4): Show a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0024t0001g0326	7	370	0.0189	-44	c.330 others(63): Show c.330+14742_330+14785delCATATATATATATATATATATATATA TATATATATATATATATA	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	1/22			chr7	TogoVar
ETS2_chr21_38800929_38829955	38815998	GGAAGGAA others(37): Show GGAAGGAAGGAAGGAGGGAGGGAGGGAAGGAAGGAAGGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00609.hp1 HG00639.hp1 others(29): Show HG00408.hp1 HG00609.hp1 HG00639.hp1 HG01071.hp2 HG01175.hp2 HG01243.hp1 HG01928.hp2 HG02004.hp1 HG02004.hp2 HG02056.hp2 HG02145.hp2 HG02258.hp1 HG02280.hp2 HG02615.hp1 HG02698.hp1 HG02738.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02976.hp2 HG03041.hp1 HG03471.hp2 HG06807.hp2 NA18940.hp1 NA18942.hp2 NA18960.hp2 NA18999.hp1 NA19003.hp2 NA19030.hp2 NA19057.hp2 NA19064.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0019 a0001c0002t0002 a0001c0002t0006 a0001c0009t0001	a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0001g0027 others(25): Show a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0001g0027 a0001c0001t0001g0057 a0001c0001t0001g0065 a0001c0001t0001g0102 a0001c0001t0001g0133 a0001c0001t0001g0138 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0244 a0001c0001t0001g0251 a0001c0001t0001g0258 a0001c0001t0003g0070 a0001c0001t0008g0014 a0001c0001t0008g0073 a0001c0001t0010g0028 a0001c0001t0011g0028 a0001c0001t0011g0066 a0001c0001t0019g0018 a0001c0002t0002g0215 a0001c0002t0002g0217 a0001c0002t0002g0219 a0001c0002t0002g0275 a0001c0002t0006g0331 a0001c0009t0001g0150	32	426	0.0751	-44	c.506 others(60): Show c.506-1007_506-964delAGGAAGGAAGGAGGGAGGGAGGGAAGGAA GGAAGGAAAGAAAGA	ETS2	ENSG00000157557.13	transcript	ENST00000360938.8	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr21	TogoVar
ETS2_chr21_38800929_38829955	38816001	AGGAAGGA others(37): Show AGGAAGGAAGGAGGGAGGGAGGGAAGGAAGGAAGGAAAGAAAGAG	A A	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG04184.hp2 NA20805.hp2 HG03669.hp2 HG04184.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0089 a0001c0001t0001g0198 a0001c0002t0002g0271 a0001c0001t0001g0089 a0001c0001t0001g0198 a0001c0002t0002g0271	3	426	0.0070	-44	c.506 others(60): Show c.506-1003_506-960delAGGAAGGAGGGAGGGAGGGAAGGAAGGAA GGAAAGAAAGAGGGA	ETS2	ENSG00000157557.13	transcript	ENST00000360938.8	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr21	TogoVar
EVI5L_chr19_7825218_7869976	7867857	TCTCTACT others(37): Show TCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCGCGCAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG02738.hp2 NA18943.hp1 others(8): Show HG00423.hp2 HG02738.hp2 NA18943.hp1 NA18944.hp2 NA18950.hp1 NA18954.hp1 NA18969.hp1 NA19054.hp2 NA19055.hp2 NA19080.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0124 others(4): Show a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0124 a0001c0001t0001g0161 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0204	11	396	0.0278	-44	c.41 others(55): Show c.4156_*4199delCTCTACTAAAAATACAAAAATTAGCCGGGTGTGG TGGCGCGCAC	EVI5L	ENSG00000142459.9	transcript	ENST00000538904.7	protein_coding		2882		chr19	TogoVar
EXD3_chr9_137301896_137428162	137342148	TCAGGAGC others(37): Show TCAGGAGCCGTCTCCCAGGAGTCAGAGGAAACGGGGCTCAGGCAC	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0065 a0005c0009t0001g0065	1	82	0.0122	-44	c.199 others(63): Show c.1998+5879_1998+5922delGTGCCTGAGCCCCGTTTCCTCTGACT CCTGGGAGACGGCTCCTG	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXOC2_chr6_480154_698139	601650	CCACACAC others(37): Show CCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACA	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0227 a0001c0001t0002g0227	1	272	0.0037	-44	c.743 others(61): Show c.743-2469_743-2426delTGTGGATTCGCACACGGGGTGTTCTTGG TGTGAGAATGTGTGTG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	7/27			chr6	TogoVar
EXOC2_chr6_480154_698139	601810	CCACACAC others(37): Show CCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACA	C C	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0214 a0001c0001t0022g0214	1	272	0.0037	-44	c.743 others(61): Show c.743-2629_743-2586delTGTGGATTCGCACACGGGGTGTTCTTGG TGTGAGAATGTGTGTG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	7/27			chr6	TogoVar
EXOC2_chr6_480154_698139	602330	CCACACAC others(37): Show CCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACA	C C	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0259 a0001c0001t0003g0259	1	272	0.0037	-44	c.743 others(61): Show c.743-3149_743-3106delTGTGGATTCGCACACGGGGTGTTCTTGG TGTGAGAATGTGTGTG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	7/27			chr6	TogoVar
EXOC3L4_chr14_103089725_103115559	103109645	TCTCCCTC others(37): Show TCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02647.hp1 HG00639.hp1 HG02647.hp1	a0003 a0008 a0003 a0008	a0003c0011 a0008c0012 a0003c0011 a0008c0012	a0003c0011t0001 a0008c0012t0001 a0003c0011t0001 a0008c0012t0001	a0003c0011t0001g0201 a0008c0012t0001g0096 a0003c0011t0001g0201 a0008c0012t0001g0096	2	404	0.0050	-44	c.197 others(61): Show c.1977-377_1977-334delTCCCTCCCTCTCCACCCTGCCCCCATGT CTCCCTCCCTCCCTCC	EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
EXOC4_chr7_133248078_134070761	133823868	TATATTAT others(37): Show TATATTATATATATATATATATATATTTTATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG01261.hp2 others(4): Show HG00140.hp1 HG00323.hp2 HG01261.hp2 HG03139.hp2 NA18954.hp1 NA19005.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0004t0001	a0001c0001t0001g0042 a0001c0001t0001g0068 a0001c0001t0002g0050 others(4): Show a0001c0001t0001g0042 a0001c0001t0001g0068 a0001c0001t0002g0050 a0001c0001t0003g0070 a0001c0004t0001g0041 a0001c0004t0001g0064 a0001c0004t0001g0087	7	102	0.0686	-44	c.173 others(63): Show c.1734+6329_1734+6372delTATATATATATATATATATATTTTAT ATATATATATATAAATAT	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC6B_chr2_72170984_72831033	72512323	GGAAGGAA others(37): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01099.hp2 HG01169.hp2 others(7): Show HG00735.hp1 HG01099.hp2 HG01169.hp2 HG01516.hp2 HG01981.hp1 HG02280.hp2 HG02965.hp2 HG03225.hp2 HG03490.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008	a0001c0001t0002 a0001c0001t0019 a0001c0002t0001 others(4): Show a0001c0001t0002 a0001c0001t0019 a0001c0002t0001 a0001c0002t0009 a0001c0003t0001 a0001c0003t0003 a0001c0008t0016	a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0019g0043 others(7): Show a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0019g0043 a0001c0002t0001g0006 a0001c0002t0009g0023 a0001c0003t0001g0088 a0001c0003t0001g0091 a0001c0003t0003g0096 a0001c0003t0003g0097 a0001c0008t0016g0036	10	104	0.0962	-44	c.116 others(61): Show c.1167+765_1167+808delTTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTC	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	11/21			chr2	TogoVar
EXOG_chr3_38491340_38531303	38492731	TACACACA others(37): Show TACACACACACACACACACACACACACACACACACACACACACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01516.hp2 NA20805.hp1 HG01167.hp1 HG01516.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	3	412	0.0073	-44	c.-36 others(55): Show c.-3636_-3593delACACACACACACACACACACACACACACACACAC ACACACACAC	EXOG	ENSG00000157036.13	transcript	ENST00000287675.10	protein_coding		3608		chr3	TogoVar
EXT1_chr8_117789490_118116826	117858712	AGAAGGAA others(37): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02145.hp2 HG02280.hp1 others(6): Show HG01243.hp2 HG02145.hp2 HG02280.hp1 HG03041.hp1 HG03041.hp2 HG03139.hp2 HG03225.hp2 NA20129.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0008 a0001c0001 a0001c0004 a0001c0008	a0001c0001t0014 a0001c0001t0018 a0001c0001t0019 others(4): Show a0001c0001t0014 a0001c0001t0018 a0001c0001t0019 a0001c0004t0013 a0001c0004t0015 a0001c0004t0060 a0001c0008t0006	a0001c0001t0014g0007 a0001c0001t0014g0009 a0001c0001t0018g0078 others(6): Show a0001c0001t0014g0007 a0001c0001t0014g0009 a0001c0001t0018g0078 a0001c0001t0019g0034 a0001c0004t0013g0004 a0001c0004t0013g0005 a0001c0004t0015g0158 a0001c0004t0060g0165 a0001c0008t0006g0162	9	190	0.0474	-44	c.963 others(63): Show c.963-21555_963-21512delCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTC	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EXT1_chr8_117789490_118116826	117858840	GGAAGGAA others(37): Show GGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0016 a0001c0001t0034g0016	1	190	0.0053	-44	c.963 others(63): Show c.963-21683_963-21640delTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCCTTC	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EXT1_chr8_117789490_118116826	117858844	GGAAAGAA others(37): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03225.hp1 HG02886.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0027 a0001c0001t0015 a0001c0001t0027	a0001c0001t0015g0092 a0001c0001t0027g0003 a0001c0001t0015g0092 a0001c0001t0027g0003	2	190	0.0105	-44	c.963 others(63): Show c.963-21687_963-21644delTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTC	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EXT1_chr8_117789490_118116826	118073614	GGAAGAGA others(37): Show GGAAGAGAAGAGAAGAGAAAGAAGAGAAGAGAAGAGAAGAGAAGA	G G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0069	a0001c0001t0069g0182 a0001c0001t0069g0182	1	190	0.0053	-44	c.962 others(63): Show c.962+36427_962+36470delTCTTCTCTTCTCTTCTCTTCTCTTCT TTCTCTTCTCTTCTCTTC	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EYA1_chr8_71192433_71367069	71207808	AAAAGGAT others(37): Show AAAAGGATTTTCCAAATAATTGTAATAGAATACTTTTGTACAAAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00423.hp1 others(74): Show HG00140.hp1 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG01081.hp2 HG01109.hp1 HG01243.hp2 HG01256.hp2 HG01496.hp1 HG01891.hp1 HG01952.hp2 HG01975.hp1 HG01993.hp1 HG02056.hp2 HG02074.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02451.hp2 HG02602.hp2 HG02615.hp1 HG02735.hp2 HG02970.hp2 HG03130.hp2 HG03490.hp1 HG03492.hp2 HG03654.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp1 NA18943.hp1 NA18943.hp2 NA18952.hp2 NA18970.hp1 NA18972.hp1 NA18972.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18993.hp1 NA19000.hp1 NA19002.hp2 NA19009.hp1 NA19009.hp2 NA19056.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19068.hp1 NA19068.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19077.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0001c0003 a0001c0004 others(1): Show a0001c0002 a0001c0003 a0001c0004 a0004c0012	a0001c0002t0001 a0001c0002t0004 a0001c0002t0006 others(11): Show a0001c0002t0001 a0001c0002t0004 a0001c0002t0006 a0001c0002t0007 a0001c0002t0014 a0001c0002t0022 a0001c0002t0023 a0001c0002t0025 a0001c0003t0004 a0001c0003t0006 a0001c0003t0008 a0001c0004t0001 a0001c0004t0004 a0004c0012t0001	a0001c0002t0001g0015 a0001c0002t0001g0044 a0001c0002t0001g0048 others(74): Show a0001c0002t0001g0015 a0001c0002t0001g0044 a0001c0002t0001g0048 a0001c0002t0001g0050 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0063 a0001c0002t0001g0078 a0001c0002t0001g0086 a0001c0002t0001g0089 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0098 a0001c0002t0001g0110 a0001c0002t0001g0113 a0001c0002t0001g0115 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0141 a0001c0002t0001g0144 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0159 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0202 a0001c0002t0001g0220 a0001c0002t0001g0225 a0001c0002t0004g0062 a0001c0002t0004g0088 a0001c0002t0006g0045 a0001c0002t0006g0059 a0001c0002t0006g0065 a0001c0002t0006g0094 a0001c0002t0007g0230 a0001c0002t0014g0001 a0001c0002t0022g0201 a0001c0002t0023g0210 a0001c0002t0025g0056 a0001c0003t0004g0051 a0001c0003t0006g0171 a0001c0003t0008g0116 a0001c0003t0008g0216 a0001c0003t0008g0223 a0001c0004t0001g0073 a0001c0004t0001g0074 a0001c0004t0001g0083 a0001c0004t0001g0085 a0001c0004t0001g0100 a0001c0004t0001g0108 a0001c0004t0001g0111 a0001c0004t0001g0123 a0001c0004t0001g0125 a0001c0004t0001g0130 a0001c0004t0001g0134 a0001c0004t0001g0146 a0001c0004t0001g0166 a0001c0004t0001g0175 a0001c0004t0001g0188 a0001c0004t0004g0071 a0001c0004t0004g0072 a0001c0004t0004g0117 a0001c0004t0004g0121 a0001c0004t0004g0122 a0001c0004t0004g0156 a0001c0004t0004g0167 a0004c0012t0001g0112	77	232	0.3319	-44	c.169 others(63): Show c.1698+3304_1698+3347delCTTTGTACAAAAGTATTCTATTACAA TTATTTGGAAAATCCTTT	EYA1	ENSG00000104313.20	transcript	ENST00000340726.8	protein_coding	17/17			chr8	TogoVar
EYS_chr6_63714980_65712226	64442843	GGAGTTTG others(37): Show GGAGTTTGCTATAGGGGCAATGTCCTCATGGAGAACTTCTGCCAC	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02630.hp2 HG02809.hp1 others(5): Show HG02451.hp2 HG02630.hp2 HG02809.hp1 HG02896.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03209.hp2	a0003 a0006 a0012 others(4): Show a0003 a0006 a0012 a0016 a0017 a0018 a0021	a0003c0008 a0003c0021 a0006c0017 others(5): Show a0003c0008 a0003c0021 a0006c0017 a0012c0016 a0016c0022 a0017c0014 a0018c0018 a0021c0007	a0003c0008t0002 a0003c0021t0001 a0006c0017t0001 others(5): Show a0003c0008t0002 a0003c0021t0001 a0006c0017t0001 a0012c0016t0001 a0016c0022t0001 a0017c0014t0001 a0018c0018t0001 a0021c0007t0001	a0003c0008t0002g0020 a0003c0021t0001g0008 a0006c0017t0001g0002 others(5): Show a0003c0008t0002g0020 a0003c0021t0001g0008 a0006c0017t0001g0002 a0012c0016t0001g0003 a0016c0022t0001g0011 a0017c0014t0001g0005 a0018c0018t0001g0007 a0021c0007t0001g0009	8	24	0.3333	-44	c.564 others(63): Show c.5645-3535_5645-3492delGTGGCAGAAGTTCTCCATGAGGACAT TGCCCCTATAGCAAACTC	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	26/42			chr6	TogoVar
EYS_chr6_63714980_65712226	65317825	CCTTTCTT others(37): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0006 a0001c0019t0001g0006	1	24	0.0417	-44	c.176 others(65): Show c.1766+17111_1766+17154delAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAG	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	11/42			chr6	TogoVar
EZR_chr6_158760748_158824368	158803538	TATATATG others(37): Show TATATATGTATATATATATATATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02040.hp2 HG03704.hp2 others(4): Show HG01123.hp1 HG02040.hp2 HG03704.hp2 NA18970.hp2 NA18979.hp1 NA18981.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0070 a0001c0001t0001g0071 others(4): Show a0001c0001t0001g0012 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0103 a0001c0001t0001g0147	7	312	0.0224	-44	c.13- others(61): Show c.13-14211_13-14168delGTATATATATATATATATATATATATAT ATATATATACATATAT	EZR	ENSG00000092820.19	transcript	ENST00000367075.4	protein_coding	2/13			chr6	TogoVar
EZR_chr6_158760748_158824368	158803588	TATATATA others(37): Show TATATATATATATATATACATATATATATATATATATACATATAC	T T	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0009 a0001c0001t0005g0009	1	312	0.0032	-44	c.13- others(61): Show c.13-14261_13-14218delGTATATGTATATATATATATATATATGT ATATATATATATATAT	EZR	ENSG00000092820.19	transcript	ENST00000367075.4	protein_coding	2/13			chr6	TogoVar
F11R_chr1_160990211_161026152	161017534	AAGACCTT others(37): Show AAGACCTTTGTTCACGTGTTTGTCTACTGACCCTCTCCCCACAAT	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0178 a0001c0001t0018g0178	1	392	0.0026	-44	c.64+ others(59): Show c.64+3432_64+3475delATTGTGGGGAGAGGGTCAGTAGACAAACAC GTGAACAAAGGTCT	F11R	ENSG00000158769.19	transcript	ENST00000368026.11	protein_coding	1/9			chr1	TogoVar
FAF2_chr5_176443385_176515074	176451803	TATATATA others(37): Show TATATATACACACATATATATATATACATATATATATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02257.hp1 NA20129.hp1 HG01891.hp2 HG02257.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0010 a0001c0001t0013 a0001c0001t0004 a0001c0001t0010 a0001c0001t0013	a0001c0001t0004g0021 a0001c0001t0010g0005 a0001c0001t0013g0025 a0001c0001t0004g0021 a0001c0001t0010g0005 a0001c0001t0013g0025	3	372	0.0081	-44	c.63+ others(59): Show c.63+3341_63+3384delCACACATATATATATATACATATATATATA TACACACATATATA	FAF2	ENSG00000113194.13	transcript	ENST00000261942.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
FAM114A1_chr4_38862806_38950739	38880111	AATAGAAT others(37): Show AATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAG	A A	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0072 a0001c0004t0001g0072	1	372	0.0027	-44	c.348 others(61): Show c.348+1687_348+1730delTAGAATAGAATAGAATAGAATAGAATAG AATAGAATAGAATAGA	FAM114A1	ENSG00000197712.12	transcript	ENST00000358869.5	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM135B_chr8_138125023_138502261	138425972	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00738.hp1 others(34): Show HG00140.hp2 HG00280.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01243.hp2 HG01261.hp1 HG01346.hp1 HG01981.hp2 HG01993.hp1 HG02055.hp2 HG02071.hp1 HG02109.hp1 HG02257.hp2 HG02280.hp2 HG02451.hp2 HG02559.hp1 HG02615.hp2 HG02723.hp2 HG02886.hp1 HG02886.hp2 HG02976.hp2 HG03195.hp1 HG03225.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp1 HG03831.hp2 HG06807.hp1 NA18968.hp2 NA19011.hp2 NA20300.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0007 a0008 a0011	a0001c0003 a0001c0004 a0001c0005 others(9): Show a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0015 a0002c0002 a0002c0019 a0003c0001 a0007c0026 a0008c0016 a0011c0024	a0001c0003t0003 a0001c0004t0001 a0001c0004t0008 others(18): Show a0001c0003t0003 a0001c0004t0001 a0001c0004t0008 a0001c0004t0011 a0001c0005t0001 a0001c0006t0005 a0001c0007t0003 a0001c0015t0008 a0002c0002t0001 a0002c0002t0002 a0002c0002t0009 a0002c0019t0015 a0003c0001t0004 a0003c0001t0006 a0003c0001t0007 a0003c0001t0009 a0003c0001t0022 a0003c0001t0031 a0007c0026t0001 a0008c0016t0008 a0011c0024t0001	a0001c0003t0003g0033 a0001c0004t0001g0021 a0001c0004t0001g0030 others(34): Show a0001c0003t0003g0033 a0001c0004t0001g0021 a0001c0004t0001g0030 a0001c0004t0001g0034 a0001c0004t0001g0091 a0001c0004t0001g0092 a0001c0004t0008g0128 a0001c0004t0011g0119 a0001c0005t0001g0090 a0001c0006t0005g0187 a0001c0007t0003g0044 a0001c0015t0008g0129 a0002c0002t0001g0003 a0002c0002t0001g0006 a0002c0002t0001g0032 a0002c0002t0001g0061 a0002c0002t0001g0070 a0002c0002t0001g0094 a0002c0002t0001g0102 a0002c0002t0001g0109 a0002c0002t0002g0167 a0002c0002t0009g0164 a0002c0019t0015g0112 a0003c0001t0004g0012 a0003c0001t0004g0013 a0003c0001t0004g0020 a0003c0001t0006g0162 a0003c0001t0006g0171 a0003c0001t0006g0174 a0003c0001t0007g0093 a0003c0001t0007g0103 a0003c0001t0009g0175 a0003c0001t0022g0001 a0003c0001t0031g0126 a0007c0026t0001g0072 a0008c0016t0008g0127 a0011c0024t0001g0014	37	212	0.1745	-44	c.-19 others(63): Show c.-19-58014_-19-57971delGTGTATATATATATATATATATATAT ATATATATATATATATAT	FAM135B	ENSG00000147724.12	transcript	ENST00000395297.6	protein_coding	1/19			chr8	TogoVar
FAM151B_chr5_80483100_80547563	80538480	TTCTTTCC others(37): Show TTCTTTCCTTCCTTCCTTCCTTTCTTTTCTTTCTTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	356	0.0028	-44	c.672 others(61): Show c.672-3192_672-3149delTCTTTCCTTCCTTCCTTCCTTTCTTTTC TTTCTTTCCTTCCTTC	FAM151B	ENSG00000152380.10	transcript	ENST00000282226.5	protein_coding	5/5			chr5	TogoVar
FAM204A_chr10_118292925_118347324	118332492	TCCTCCCT others(37): Show TCCTCCCTCCACATCCCTATGCCCCTCCCTCCACATCCTAATGCC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00423.hp2 others(89): Show HG00140.hp1 HG00323.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00621.hp1 HG00673.hp1 HG00741.hp1 HG01243.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02080.hp1 HG02083.hp2 HG02132.hp1 HG02135.hp2 HG02155.hp2 HG02280.hp1 HG02300.hp1 HG02523.hp1 HG02572.hp2 HG02622.hp2 HG02698.hp2 HG02735.hp2 HG02818.hp1 HG02895.hp2 HG02922.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03486.hp2 HG03490.hp1 HG03710.hp1 HG03831.hp2 HG03927.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp2 NA18942.hp1 NA18944.hp1 NA18946.hp1 NA18948.hp2 NA18949.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18960.hp1 NA18961.hp2 NA18964.hp2 NA18966.hp2 NA18970.hp1 NA18973.hp1 NA18974.hp1 NA18978.hp1 NA18984.hp2 NA18985.hp2 NA18987.hp2 NA18989.hp2 NA18991.hp2 NA18992.hp2 NA18994.hp2 NA19004.hp1 NA19009.hp2 NA19010.hp1 NA19012.hp1 NA19043.hp1 NA19056.hp2 NA19058.hp1 NA19060.hp1 NA19063.hp2 NA19065.hp1 NA19067.hp2 NA19070.hp2 NA19079.hp2 NA19081.hp1 NA19082.hp1 NA19083.hp2 NA19084.hp1 NA19086.hp1 NA19091.hp1 NA20129.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(22): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0037 a0001c0001t0038 a0001c0001t0041 a0001c0001t0042 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0077 a0001c0001t0084 a0001c0001t0097 a0001c0001t0098 a0001c0001t0099 a0001c0001t0101 a0001c0001t0102 a0001c0001t0103 a0001c0001t0104 a0001c0001t0107	a0001c0001t0003g0027 a0001c0001t0003g0096 a0001c0001t0003g0107 others(49): Show a0001c0001t0003g0027 a0001c0001t0003g0096 a0001c0001t0003g0107 a0001c0001t0004g0001 a0001c0001t0004g0024 a0001c0001t0004g0082 a0001c0001t0004g0086 a0001c0001t0004g0087 a0001c0001t0004g0088 a0001c0001t0004g0097 a0001c0001t0004g0101 a0001c0001t0004g0104 a0001c0001t0004g0108 a0001c0001t0004g0110 a0001c0001t0005g0004 a0001c0001t0005g0006 a0001c0001t0005g0025 a0001c0001t0005g0026 a0001c0001t0005g0113 a0001c0001t0006g0106 a0001c0001t0008g0014 a0001c0001t0008g0015 a0001c0001t0008g0079 a0001c0001t0008g0085 a0001c0001t0008g0114 a0001c0001t0010g0028 a0001c0001t0010g0080 a0001c0001t0010g0084 a0001c0001t0010g0089 a0001c0001t0010g0098 a0001c0001t0010g0099 a0001c0001t0013g0016 a0001c0001t0013g0111 a0001c0001t0037g0267 a0001c0001t0037g0268 a0001c0001t0038g0047 a0001c0001t0041g0090 a0001c0001t0042g0091 a0001c0001t0069g0092 a0001c0001t0070g0100 a0001c0001t0071g0093 a0001c0001t0072g0094 a0001c0001t0077g0105 a0001c0001t0084g0112 a0001c0001t0097g0109 a0001c0001t0098g0102 a0001c0001t0099g0103 a0001c0001t0101g0081 a0001c0001t0102g0083 a0001c0001t0103g0115 a0001c0001t0104g0095 a0001c0001t0107g0269	92	394	0.2335	-44	c.453 others(61): Show c.453+2578_453+2621delGGCATTAGGATGTGGAGGGAGGGGCATA GGGATGTGGAGGGAGG	FAM204A	ENSG00000165669.14	transcript	ENST00000369183.9	protein_coding	6/8			chr10	TogoVar
FAM227A_chr22_38573118_38661392	38613066	AATATATT others(37): Show AATATATTATATATAATTATATATATATATTATATATAATTATAT	A A	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01975.hp1 HG01993.hp1 others(1): Show HG01928.hp1 HG01975.hp1 HG01993.hp1 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0091 a0001c0001t0001g0094 others(1): Show a0001c0001t0001g0083 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0112	4	328	0.0122	-44	c.103 others(63): Show c.1039-5634_1039-5591delATATAATTATATATAATATATATATA TAATTATATATAATATAT	FAM227A	ENSG00000184949.18	transcript	ENST00000535113.7	protein_coding	11/16			chr22	TogoVar
FAM78B_chr1_166064299_166172001	166109822	ATATATAT others(37): Show ATATATATATGTATATATGTATATATATATATATATATATGTATG	A A	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01069.hp1 HG02148.hp2 others(3): Show HG00609.hp1 HG01069.hp1 HG02148.hp2 HG03834.hp2 NA18948.hp1 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0252 a0001c0001t0001g0268 a0001c0001t0002g0242 others(3): Show a0001c0001t0001g0252 a0001c0001t0001g0268 a0001c0001t0002g0242 a0001c0001t0002g0250 a0001c0001t0002g0260 a0001c0001t0002g0274	6	318	0.0189	-44	c.264 others(63): Show c.264-39103_264-39060delCATACATATATATATATATATATATA CATATATACATATATATA	FAM78B	ENSG00000188859.7	transcript	ENST00000354422.4	protein_coding	1/1			chr1	TogoVar

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