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
DPYSL4_chr10_132181948_132210759	132203674	TGCTCAGC others(36): Show TGCTCAGCCCCTCATGCCCCATCTCTGGCCCCACAGCTGCCCAG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp2 HG00621.hp1 others(53): Show HG00099.hp1 HG00423.hp2 HG00621.hp1 HG00673.hp1 HG00673.hp2 HG01243.hp2 HG02015.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02523.hp1 HG03098.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04204.hp2 NA18945.hp1 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18950.hp2 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18956.hp2 NA18959.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18974.hp2 NA18979.hp2 NA18981.hp2 NA18986.hp2 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA19003.hp1 NA19003.hp2 NA19010.hp2 NA19054.hp1 NA19059.hp2 NA19060.hp2 NA19065.hp2 NA19068.hp2 NA19077.hp1 NA19079.hp2 NA19080.hp2 NA19085.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0011 others(2): Show a0001c0001 a0001c0003 a0001c0011 a0001c0026 a0003c0008	a0001c0001t0001 a0001c0001t0014 a0001c0001t0033 others(4): Show a0001c0001t0001 a0001c0001t0014 a0001c0001t0033 a0001c0003t0001 a0001c0011t0001 a0001c0026t0001 a0003c0008t0019	a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0015 others(23): Show a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0050 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0153 a0001c0001t0001g0176 a0001c0001t0001g0211 a0001c0001t0014g0166 a0001c0001t0033g0175 a0001c0003t0001g0142 a0001c0011t0001g0021 a0001c0011t0001g0129 a0001c0026t0001g0015 a0003c0008t0019g0093 a0003c0008t0019g0094	56	418	0.1340	-43	c.146 others(58): Show c.1462-69_1462-27delCATCTCTGGCCCCACAGCTGCCCAGGCTCA GCCCCTCATGCCC	DPYSL4	ENSG00000151640.13	transcript	ENST00000338492.9	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
DYNC1I1_chr7_95767554_96103424	95902270	TGTAGAAA others(36): Show TGTAGAAAAATACATGGAATATTAAACTAAAATATGTCTGTCTA	T T	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	230	0.0044	-43	c.490 others(62): Show c.490+32274_490+32316delTAGAAAAATACATGGAATATTAAACT AAAATATGTCTGTCTAG	DYNC1I1	ENSG00000158560.14	transcript	ENST00000447467.6	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC2LI1_chr2_43769039_43815010	43802971	TCACTATA others(36): Show TCACTATACATTTAACAGGATAGCTAAAATAAAAAATAGTGACA	T T	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0080 a0003c0003t0003g0080	1	294	0.0034	-43	c.802 others(60): Show c.802+1264_802+1306delACTATACATTTAACAGGATAGCTAAAAT AAAAAATAGTGACAC	DYNC2LI1	ENSG00000138036.18	transcript	ENST00000260605.12	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
ECT2L_chr6_138791087_138909070	138859734	ACTGGATA others(36): Show ACTGGATAAAAATATTTTCTACAGTCTGTAGAAAATATTTTTTC	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0012 a0012	a0012c0019 a0012c0019	a0012c0019t0011 a0012c0019t0011	a0012c0019t0011g0168 a0012c0019t0011g0168	1	326	0.0031	-43	c.119 others(62): Show c.1199-2890_1199-2848delGGATAAAAATATTTTCTACAGTCTGT AGAAAATATTTTTTCCT	ECT2L	ENSG00000203734.13	transcript	ENST00000541398.7	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
EEF1A1_chr6_73510750_73526032	73524871	TTTTTTTT others(36): Show TTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(238): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01167.hp2 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18941.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18950.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18965.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18974.hp2 NA18975.hp1 NA18976.hp1 NA18978.hp2 NA18980.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18998.hp2 NA18999.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19060.hp2 NA19062.hp1 NA19064.hp1 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19074.hp1 NA19076.hp2 NA19079.hp2 NA19082.hp1 NA19083.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0005 others(1): Show a0001c0001 a0001c0004 a0001c0005 a0002c0008	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(20): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0031 a0001c0001t0032 a0001c0004t0014 a0001c0005t0021 a0002c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0019 others(35): Show a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0038 a0001c0001t0004g0004 a0001c0001t0004g0014 a0001c0001t0004g0016 a0001c0001t0004g0031 a0001c0001t0004g0035 a0001c0001t0004g0046 a0001c0001t0004g0049 a0001c0001t0008g0008 a0001c0001t0009g0009 a0001c0001t0010g0010 a0001c0001t0011g0012 a0001c0001t0011g0059 a0001c0001t0012g0011 a0001c0001t0014g0048 a0001c0001t0015g0013 a0001c0001t0018g0018 a0001c0001t0019g0022 a0001c0001t0020g0025 a0001c0001t0022g0034 a0001c0001t0023g0033 a0001c0001t0025g0039 a0001c0001t0027g0044 a0001c0001t0028g0045 a0001c0001t0029g0040 a0001c0001t0031g0060 a0001c0001t0032g0061 a0001c0004t0014g0030 a0001c0004t0014g0047 a0001c0005t0021g0026 a0002c0008t0001g0041	241	424	0.5684	-43	c.-39 others(54): Show c.-3945_-3903delCACTCCAGCCTGGGTGACAGAGTGAGACTCCATC TCAAAAAAA	EEF1A1	ENSG00000156508.19	transcript	ENST00000309268.11	protein_coding		3840		chr6	TogoVar
EGFLAM_chr5_38253559_38470480	38459748	CCCCTGGC others(36): Show CCCCTGGCTGCTGGGCCCCCAACCCCTGGCTGCTGGGCCCCCAA	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02280.hp1 HG02451.hp1 others(3): Show HG02055.hp1 HG02280.hp1 HG02451.hp1 HG02970.hp1 HG03041.hp2 NA19030.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0020	a0001c0001 a0001c0010 a0002c0002 others(3): Show a0001c0001 a0001c0010 a0002c0002 a0003c0003 a0004c0004 a0020c0026	a0001c0001t0006 a0001c0010t0006 a0002c0002t0023 others(3): Show a0001c0001t0006 a0001c0010t0006 a0002c0002t0023 a0003c0003t0011 a0004c0004t0011 a0020c0026t0006	a0001c0001t0006g0086 a0001c0010t0006g0098 a0002c0002t0023g0072 others(3): Show a0001c0001t0006g0086 a0001c0010t0006g0098 a0002c0002t0023g0072 a0003c0003t0011g0110 a0004c0004t0011g0138 a0020c0026t0006g0070	6	190	0.0316	-43	c.277 others(62): Show c.2771+1364_2771+1406delCTGGGCCCCCAACCCCTGGCTGCTGG GCCCCCAACCCTGGCTG	EGFLAM	ENSG00000164318.18	transcript	ENST00000322350.10	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr5	TogoVar
EHMT1_chr9_137614005_137841127	137718068	TGTGATGA others(36): Show TGTGATGATTTTCACACACAGGGCGCGCCCGCCCCTCACGCACC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01884.hp1 HG01891.hp2 others(16): Show HG01109.hp1 HG01884.hp1 HG01891.hp2 HG02055.hp2 HG02145.hp1 HG02630.hp1 HG02717.hp2 HG02886.hp1 HG02922.hp1 HG03098.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03486.hp2 HG03579.hp1 NA18522.hp2 NA19043.hp1 NA19240.hp2 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0006 a0001c0009 a0001c0003 a0001c0006 a0001c0009	a0001c0003t0001 a0001c0006t0001 a0001c0009t0001 a0001c0003t0001 a0001c0006t0001 a0001c0009t0001	a0001c0003t0001g0001 a0001c0003t0001g0057 a0001c0003t0001g0058 others(16): Show a0001c0003t0001g0001 a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0059 a0001c0003t0001g0060 a0001c0003t0001g0067 a0001c0003t0001g0078 a0001c0003t0001g0084 a0001c0003t0001g0088 a0001c0003t0001g0095 a0001c0003t0001g0102 a0001c0003t0001g0105 a0001c0003t0001g0121 a0001c0003t0001g0129 a0001c0003t0001g0130 a0001c0006t0001g0155 a0001c0009t0001g0061 a0001c0009t0001g0142 a0001c0009t0001g0170	19	170	0.1118	-43	c.642 others(58): Show c.642+915_642+957delCGCCCCTCACGCACCGTGATGATTTTCACA CACAGGGCGCGCC	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EIF4G3_chr1_20801479_21181897	20816324	GGGGGGGG others(36): Show GGGGGGGGGGGGGGTCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02976.hp2 HG03041.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0204 a0001c0001t0009g0205 a0001c0001t0009g0206 a0001c0001t0009g0204 a0001c0001t0009g0205 a0001c0001t0009g0206	3	312	0.0096	-43	c.451 others(62): Show c.4515+1025_4515+1067delACCTCCCTCCCGGACGGGGCGGCTGG CCGACCCCCCCCCCCCC	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	34/36			chr1	TogoVar
EIPR1_chr2_3183970_3382818	3246997	CGAGGGAG others(36): Show CGAGGGAGGAGAGAGCGAGGGAGGGAGAGAGCGAGGGAGGGAGA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0008 a0001c0001t0004g0008	1	250	0.0040	-43	c.416 others(62): Show c.416+10259_416+10301delTCTCCCTCCCTCGCTCTCTCCCTCCC TCGCTCTCTCCTCCCTC	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8			chr2	TogoVar
ELAVL2_chr9_23685104_23831240	23779979	TAAAAAAA others(36): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	352	0.0028	-43	c.-15 others(62): Show c.-15-17773_-15-17731delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTT	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	1/6			chr9	TogoVar
EMID1_chr22_29200896_29264597	29203548	AAAAAAAA others(36): Show AAAAAAAAAAAAAAAAAAAAGAAGATCCCATGGCTTGTTTTTTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0235 a0002c0001t0001g0235	1	348	0.0029	-43	c.-24 others(54): Show c.-2490_-2448delAAAAAAAAAAAAAAAAAAAGAAGATCCCATGGCT TGTTTTTTC	EMID1	ENSG00000186998.16	transcript	ENST00000334018.11	protein_coding		2347		chr22	TogoVar
EMID1_chr22_29200896_29264597	29262979	GATTCTCC others(36): Show GATTCTCCTGTCTCAGTCTCCCAAGTAGCTGGGACTATAGGCGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0139 a0003c0003t0003g0139	1	348	0.0029	-43	c.40 others(54): Show c.4036_*4078delATTCTCCTGTCTCAGTCTCCCAAGTAGCTGGGAC TATAGGCGC	EMID1	ENSG00000186998.16	transcript	ENST00000334018.11	protein_coding		3383		chr22	TogoVar
EML1_chr14_99788413_99947060	99925424	TAATTTTT others(36): Show TAATTTTTTTTAGAGACAGGGTATTCCTATGTCTCTAAACTGAA	T T	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0123 a0001c0004t0001g0123	1	288	0.0035	-43	c.190 others(62): Show c.1909+4549_1909+4591delATTTTTTTTAGAGACAGGGTATTCCT ATGTCTCTAAACTGAAA	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EPB41L5_chr2_120008077_120184119	120178346	GCTGTTGT others(36): Show GCTGTTGTGGGTGTCTCAGCTCTGAGGGTCTTTGTGAGCTCCCA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03195.hp1 HG03831.hp2 HG03195.hp1 HG03831.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0015 a0002c0002t0020 a0001c0001t0015 a0002c0002t0020	a0001c0001t0015g0274 a0002c0002t0020g0112 a0001c0001t0015g0274 a0002c0002t0020g0112	2	278	0.0072	-43	c.35 others(54): Show c.3520_*3562delCTCCCACTGTTGTGGGTGTCTCAGCTCTGAGGGT CTTTGTGAG	EPB41L5	ENSG00000115109.14	transcript	ENST00000263713.10	protein_coding	25/25	3520	INFO_REALIGN_3_PRIME	chr2	TogoVar
EPHB1_chr3_134790260_135265467	135183011	TTTTCTTT others(36): Show TTTTCTTTTCTTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02809.hp2 HG02622.hp1 HG02809.hp2	a0001 a0001	a0001c0004 a0001c0013 a0001c0004 a0001c0013	a0001c0004t0009 a0001c0013t0001 a0001c0004t0009 a0001c0013t0001	a0001c0004t0009g0023 a0001c0013t0001g0007 a0001c0004t0009g0023 a0001c0013t0001g0007	2	134	0.0149	-43	c.188 others(62): Show c.1882+3037_1882+3079delTCTTTTCTTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTT	EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
ERICH1_chr8_659200_736224	695906	ACTCGCTC others(36): Show ACTCGCTCCTCTCACCCTCCACTCCTCTCCTTCCTCCCCATCAG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03209.hp1 NA19081.hp1 HG02257.hp2 HG03209.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0001 a0001c0013t0001 a0001c0001t0001 a0001c0013t0001	a0001c0001t0001g0068 a0001c0001t0001g0220 a0001c0013t0001g0210 a0001c0001t0001g0068 a0001c0001t0001g0220 a0001c0013t0001g0210	3	378	0.0079	-43	c.170 others(60): Show c.170-3337_170-3295delCTGATGGGGAGGAAGGAGAGGAGTGGAG GGTGAGAGGAGCGAG	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH1_chr8_659200_736224	696434	ACTCGCTC others(36): Show ACTCGCTCCTCTCACCCTCCACTCCTCTCCTTCCTCCCCATCAG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0210 a0001c0013t0001g0210	1	378	0.0027	-43	c.170 others(60): Show c.170-3865_170-3823delCTGATGGGGAGGAAGGAGAGGAGTGGAG GGTGAGAGGAGCGAG	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH1_chr8_659200_736224	700419	CCGCAGAC others(36): Show CCGCAGACGCGCACAGGCCCTCACAGGCCACAGACCCGCACAGG	C C	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	378	0.0027	-43	c.170 others(60): Show c.170-7850_170-7808delCCTGTGCGGGTCTGTGGCCTGTGAGGGC CTGTGCGCGTCTGCG	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH1_chr8_659200_736224	713939	CATGTGCT others(36): Show CATGTGCTGCACCCAGGCGGCCTCTTCTGGCATCTCTCAGTGGG	C C	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02055.hp1 HG02109.hp1 others(18): Show HG01952.hp1 HG02055.hp1 HG02109.hp1 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02630.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02976.hp1 HG03195.hp2 HG03471.hp2 HG03540.hp2 HG03579.hp1 HG06807.hp1 NA18906.hp2 NA19240.hp2 NA20129.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0001c0003 a0011c0010 a0001c0001 a0001c0003 a0011c0010	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0003t0004 a0011c0010t0002	a0001c0001t0001g0230 a0001c0001t0002g0254 a0001c0001t0002g0315 others(18): Show a0001c0001t0001g0230 a0001c0001t0002g0254 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0352 a0001c0001t0002g0353 a0001c0001t0002g0354 a0001c0001t0002g0355 a0001c0001t0002g0357 a0001c0001t0002g0358 a0001c0001t0002g0359 a0001c0001t0002g0360 a0001c0001t0002g0361 a0001c0001t0002g0362 a0001c0001t0002g0363 a0001c0001t0002g0364 a0001c0001t0002g0365 a0001c0003t0001g0218 a0001c0003t0004g0229 a0011c0010t0002g0356	21	378	0.0556	-43	c.169 others(60): Show c.169+1879_169+1921delCCCACTGAGAGATGCCAGAAGAGGCCGC CTGGGTGCAGCACAT	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH1_chr8_659200_736224	714010	GGCATCTC others(36): Show GGCATCTCTCGGTGGGATGTGCTGCACCCAGGCGGCCTCTTCCC	G G	intron_variant intron_variant	MODIFIER	HG04228.hp1 NA20752.hp1 HG04228.hp1 NA20752.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0011 a0001c0001 a0007c0011	a0001c0001t0002 a0007c0011t0002 a0001c0001t0002 a0007c0011t0002	a0001c0001t0002g0244 a0007c0011t0002g0245 a0001c0001t0002g0244 a0007c0011t0002g0245	2	378	0.0053	-43	c.169 others(60): Show c.169+1808_169+1850delGGGAAGAGGCCGCCTGGGTGCAGCACAT CCCACCGAGAGATGC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH1_chr8_659200_736224	714182	CGCATCTC others(36): Show CGCATCTCTCGGTGGGATGTGCTGCACCCAGGCGGCCTCTTCCG	C C	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02055.hp1 HG01952.hp1 HG02055.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0004 a0001c0003t0001 a0001c0003t0004	a0001c0003t0001g0218 a0001c0003t0004g0229 a0001c0003t0001g0218 a0001c0003t0004g0229	2	378	0.0053	-43	c.169 others(60): Show c.169+1636_169+1678delCGGAAGAGGCCGCCTGGGTGCAGCACAT CCCACCGAGAGATGC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH1_chr8_659200_736224	714440	CGCATCTC others(36): Show CGCATCTCTCGGTGGGATGTGCTGCACCCAGGCGGCCTCTTCCG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp1 HG00642.hp1 others(45): Show HG00323.hp2 HG00423.hp1 HG00642.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01106.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01256.hp2 HG01257.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG02040.hp2 HG02071.hp1 HG02135.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02970.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03490.hp1 HG03516.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 NA18964.hp1 NA18977.hp1 NA18982.hp2 NA19078.hp2 NA20752.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0009 others(1): Show a0001c0001 a0001c0002 a0001c0009 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0009t0001 a0002c0005t0002	a0001c0001t0001g0010 a0001c0001t0001g0151 a0001c0001t0001g0193 others(43): Show a0001c0001t0001g0010 a0001c0001t0001g0151 a0001c0001t0001g0193 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0002g0011 a0001c0001t0002g0246 a0001c0001t0002g0249 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0297 a0001c0002t0002g0265 a0001c0002t0002g0270 a0001c0009t0001g0234 a0002c0005t0002g0284	48	378	0.1270	-43	c.169 others(60): Show c.169+1378_169+1420delCGGAAGAGGCCGCCTGGGTGCAGCACAT CCCACCGAGAGATGC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH1_chr8_659200_736224	714526	CGCATCTC others(36): Show CGCATCTCTCGGTGGGATGTGCTGCACCCAGGCGGCCTCTTCCG	C C	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	378	0.0027	-43	c.169 others(60): Show c.169+1292_169+1334delCGGAAGAGGCCGCCTGGGTGCAGCACAT CCCACCGAGAGATGC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH1_chr8_659200_736224	714569	GGCATCTC others(36): Show GGCATCTCTCGGTGGGATGTGCTGCACCCAGGCGGCCTCTTCCC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00609.hp1 others(124): Show HG00099.hp1 HG00140.hp2 HG00609.hp1 HG00738.hp1 HG01074.hp1 HG01099.hp2 HG01175.hp1 HG01192.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02723.hp1 HG02735.hp1 HG02818.hp1 HG02897.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03491.hp2 HG03516.hp1 HG03579.hp2 HG03654.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 NA18747.hp1 NA18747.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18950.hp1 NA18951.hp2 NA18955.hp1 NA18960.hp1 NA18964.hp2 NA18969.hp2 NA18970.hp2 NA18980.hp1 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18991.hp1 NA18992.hp2 NA18994.hp2 NA19002.hp2 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19056.hp2 NA19060.hp2 NA19068.hp1 NA19070.hp2 NA19074.hp1 NA19078.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19084.hp2 NA19087.hp1 NA19088.hp1 NA19089.hp1 NA19090.hp1 NA19091.hp2 NA20129.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 others(2): Show a0001 a0003 a0005 a0009 a0010	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0001c0014 a0003c0004 a0005c0007 a0009c0012 a0010c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0003t0001 a0001c0003t0004 a0001c0009t0001 a0001c0014t0001 a0003c0004t0001 a0005c0007t0001 a0009c0012t0001 a0010c0015t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(119): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0002g0012 a0001c0001t0002g0290 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0003g0108 a0001c0002t0001g0005 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0074 a0001c0002t0001g0076 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0083 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0102 a0001c0002t0001g0106 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0003t0001g0124 a0001c0003t0001g0125 a0001c0003t0001g0126 a0001c0003t0001g0127 a0001c0003t0001g0128 a0001c0003t0001g0129 a0001c0003t0001g0218 a0001c0003t0004g0229 a0001c0009t0001g0120 a0001c0014t0001g0077 a0003c0004t0001g0078 a0005c0007t0001g0238 a0005c0007t0001g0239 a0005c0007t0001g0240 a0009c0012t0001g0119 a0010c0015t0001g0084	127	378	0.3360	-43	c.169 others(60): Show c.169+1249_169+1291delGGGAAGAGGCCGCCTGGGTGCAGCACAT CCCACCGAGAGATGC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH1_chr8_659200_736224	714612	CGCATCTC others(36): Show CGCATCTCTCGGTGGGATGTGCTGCACCCAGGCGGCCTCTTCCG	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01891.hp1 others(8): Show HG01069.hp2 HG01071.hp2 HG01891.hp1 HG02451.hp2 HG02970.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03516.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0001 a0001c0001t0001 a0001c0009t0001	a0001c0001t0001g0010 a0001c0001t0001g0192 a0001c0001t0001g0208 others(7): Show a0001c0001t0001g0010 a0001c0001t0001g0192 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0009t0001g0234	11	378	0.0291	-43	c.169 others(60): Show c.169+1206_169+1248delCGGAAGAGGCCGCCTGGGTGCAGCACAT CCCACCGAGAGATGC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH1_chr8_659200_736224	714840	AGGATGTG others(36): Show AGGATGTGCTGTACATAGGTGGTCTATTCCCGTGTCTCTCGGTG	A A	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18983.hp2 NA19087.hp1 others(1): Show NA18969.hp2 NA18983.hp2 NA19087.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 others(1): Show a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097	4	378	0.0106	-43	c.169 others(59): Show c.169+978_169+1020delCACCGAGAGACACGGGAATAGACCACCTA TGTACAGCACATCC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH5_chr8_98059568_98098609	98073502	ATATATAT others(36): Show ATATATATATATATGTATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG03704.hp2 NA18959.hp1 others(1): Show HG01256.hp2 HG03704.hp2 NA18959.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0099 a0001c0001t0001g0154 a0001c0001t0001g0374 others(1): Show a0001c0001t0001g0099 a0001c0001t0001g0154 a0001c0001t0001g0374 a0001c0001t0002g0112	4	442	0.0091	-43	c.58+ others(58): Show c.58+8776_58+8818delTATATATATATATGTATATATATATATATA TATATATATATAT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	1/2			chr8	TogoVar
ERVK3-1_chr19_58300377_58321812	58321171	GCTGATCT others(36): Show GCTGATCTTGAACTCCTGACCTCGTGATCCACCCACCTCGGCCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	424	0.0024	-43	c.63 others(54): Show c.6389_*6431delCTGATCTTGAACTCCTGACCTCGTGATCCACCCA CCTCGGCCT	ERVK3-1	ENSG00000142396.11	transcript	ENST00000413518.6	protein_coding		4360		chr19	TogoVar
ESPNL_chr2_238095340_238138287	238118765	GTGGATGG others(36): Show GTGGATGGAGGAGGGGAGATGGAGGAGGGTGGATGGAGGAGGAA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01993.hp2 HG02015.hp1 others(7): Show HG01081.hp1 HG01993.hp2 HG02015.hp1 HG02559.hp1 HG02717.hp1 NA18945.hp2 NA18969.hp2 NA18975.hp2 NA19043.hp1 NA19058.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0015 a0025	a0001c0016 a0002c0066 a0003c0024 others(4): Show a0001c0016 a0002c0066 a0003c0024 a0003c0119 a0015c0120 a0015c0131 a0025c0075	a0001c0016t0004 a0002c0066t0007 a0003c0024t0001 others(4): Show a0001c0016t0004 a0002c0066t0007 a0003c0024t0001 a0003c0119t0012 a0015c0120t0003 a0015c0131t0003 a0025c0075t0011	a0001c0016t0004g0007 a0001c0016t0004g0080 a0002c0066t0007g0163 others(5): Show a0001c0016t0004g0007 a0001c0016t0004g0080 a0002c0066t0007g0163 a0003c0024t0001g0230 a0003c0119t0012g0160 a0015c0120t0003g0165 a0015c0131t0003g0164 a0025c0075t0011g0200	10	408	0.0245	-43	c.987 others(60): Show c.987+1745_987+1787delGGAGATGGAGGAGGGTGGATGGAGGAGG AATGGATGGAGGAGG	ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ESPNL_chr2_238095340_238138287	238137276	GCTGGGCT others(36): Show GCTGGGCTATGGCTGGGCTATGGCTGGGCAATAGCTGAGCTGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01884.hp2 others(8): Show HG01167.hp2 HG01169.hp2 HG01884.hp2 HG01993.hp2 HG02109.hp2 HG02717.hp1 HG02965.hp2 HG03098.hp2 HG03130.hp1 NA18522.hp1 NA19004.hp1	a0002 a0003 a0005 others(1): Show a0002 a0003 a0005 a0042	a0002c0001 a0002c0004 a0002c0066 others(6): Show a0002c0001 a0002c0004 a0002c0066 a0002c0085 a0002c0118 a0003c0089 a0003c0119 a0005c0019 a0042c0084	a0002c0001t0007 a0002c0004t0007 a0002c0066t0007 others(6): Show a0002c0001t0007 a0002c0004t0007 a0002c0066t0007 a0002c0085t0007 a0002c0118t0007 a0003c0089t0012 a0003c0119t0012 a0005c0019t0001 a0042c0084t0007	a0002c0001t0007g0168 a0002c0001t0007g0169 a0002c0004t0007g0055 others(8): Show a0002c0001t0007g0168 a0002c0001t0007g0169 a0002c0004t0007g0055 a0002c0004t0007g0125 a0002c0066t0007g0163 a0002c0085t0007g0092 a0002c0118t0007g0153 a0003c0089t0012g0119 a0003c0119t0012g0160 a0005c0019t0001g0141 a0042c0084t0007g0044	11	408	0.0270	-43	c.55 others(54): Show c.5545_*5587delCTGGGCTATGGCTGGGCTATGGCTGGGCAATAGC TGAGCTGGA	ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding		3990		chr2	TogoVar
ESPNL_chr2_238095340_238138287	238137362	ACTGGGCT others(36): Show ACTGGGCTATGGCTGGGCTATGGTTGGGCAATAGCTGAGCTGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0005 a0005	a0005c0027 a0005c0027	a0005c0027t0001 a0005c0027t0001	a0005c0027t0001g0006 a0005c0027t0001g0006	1	408	0.0025	-43	c.56 others(54): Show c.5631_*5673delCTGGGCTATGGCTGGGCTATGGTTGGGCAATAGC TGAGCTGGG	ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding		4076		chr2	TogoVar
ETNPPL_chr4_108737053_108768053	108738436	ACAGATTC others(36): Show ACAGATTCAAACTATCTGAGCATCCTGCAGAGTATCACAGTGAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0066 a0002c0002t0002g0066	1	378	0.0027	-43	c.40 others(54): Show c.4005_*4047delATCACTGTGATACTCTGCAGGATGCTCAGATAGT TTGAATCTG	ETNPPL	ENSG00000164089.9	transcript	ENST00000296486.8	protein_coding		3616		chr4	TogoVar
ETS1_chr11_128453765_128592558	128585099	GAAAGGAA others(36): Show GAAAGGAAGGAAGGAAGGAAAGAAAGAAGAAAGAAAGAAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0014 a0001c0004t0014	a0001c0004t0014g0037 a0001c0004t0014g0037	1	286	0.0035	-43	c.-15 others(60): Show c.-15+2346_-15+2388delTTCTTTTCTTTCTTTCTTCTTTCTTTCC TTCCTTCCTTCCTTT	ETS1	ENSG00000134954.14	transcript	ENST00000392668.8	protein_coding	1/9			chr11	TogoVar
EVA1C_chr21_32407706_32520387	32477756	GCCCTCCC others(36): Show GCCCTCCCCTCCCCCGTACGCCCTCCCCTCCCCCGTACGCCCTC	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01261.hp1 HG01975.hp2 others(15): Show HG00438.hp1 HG01261.hp1 HG01975.hp2 HG02273.hp2 HG02293.hp2 HG02896.hp2 NA18944.hp1 NA18950.hp1 NA18957.hp2 NA18962.hp1 NA18973.hp2 NA18975.hp1 NA18977.hp1 NA18993.hp1 NA18994.hp2 NA19004.hp1 NA19056.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 others(3): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006 a0001c0009 a0001c0015	a0001c0001t0001 a0001c0004t0001 a0001c0005t0001 others(3): Show a0001c0001t0001 a0001c0004t0001 a0001c0005t0001 a0001c0006t0001 a0001c0009t0001 a0001c0015t0001	a0001c0001t0001g0242 a0001c0001t0001g0308 a0001c0004t0001g0140 others(15): Show a0001c0001t0001g0242 a0001c0001t0001g0308 a0001c0004t0001g0140 a0001c0004t0001g0141 a0001c0004t0001g0233 a0001c0004t0001g0235 a0001c0004t0001g0243 a0001c0005t0001g0066 a0001c0005t0001g0067 a0001c0005t0001g0068 a0001c0005t0001g0069 a0001c0005t0001g0070 a0001c0005t0001g0079 a0001c0006t0001g0071 a0001c0006t0001g0073 a0001c0006t0001g0075 a0001c0009t0001g0083 a0001c0015t0001g0074	18	346	0.0520	-43	c.634 others(60): Show c.634+9952_634+9994delCCCTCCCCTCCCCCGTACGCCCTCCCCT CCCCCGTACGCCCTC	EVA1C	ENSG00000166979.13	transcript	ENST00000300255.7	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr21	TogoVar
EVA1C_chr21_32407706_32520387	32477818	GCCCTCCC others(36): Show GCCCTCCCCTCCCCCGTACGCCCTCACCTCCCCCGTACGCCCTC	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0341 a0001c0001t0001g0341	1	346	0.0029	-43	c.634 others(61): Show c.634+9995_634+10037delACCTCCCCCGTACGCCCTCCCCTCCCC TCCCCCGTACGCCCTC	EVA1C	ENSG00000166979.13	transcript	ENST00000300255.7	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr21	TogoVar
EXOC3L4_chr14_103089725_103115559	103109320	TCTCCCTC others(36): Show TCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTC	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01069.hp2 HG01071.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0003 a0004c0010t0003	a0004c0010t0003g0024 a0004c0010t0003g0024	2	404	0.0050	-43	c.197 others(60): Show c.1977-702_1977-660delTCCCTCCCTCTCCACCCTGCCCCCATGT CTCCCTCCTCCCTCC	EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
EXOC3L4_chr14_103089725_103115559	103109573	TCTCCCTC others(36): Show TCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0003 a0004c0010t0003	a0004c0010t0003g0252 a0004c0010t0003g0252	1	404	0.0025	-43	c.197 others(60): Show c.1977-449_1977-407delTCCCTCCCTCTCCACCCTGCCCCCATGT CTCCCTCCTCCCTCC	EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
EXOC6_chr10_92843520_93064490	92915408	ACAAAGAA others(36): Show ACAAAGAAACATTAGCTGGGTGTGGTGGTGCATTCCTGTAGTCC	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00735.hp2 HG01070.hp2 others(40): Show HG00423.hp1 HG00735.hp2 HG01070.hp2 HG01109.hp1 HG01346.hp2 HG01952.hp2 HG01978.hp1 HG01981.hp2 HG02074.hp2 HG02083.hp1 HG02132.hp2 HG02135.hp2 HG02257.hp2 HG02273.hp2 HG02280.hp1 HG03139.hp1 HG03225.hp1 NA18941.hp1 NA18946.hp1 NA18947.hp2 NA18950.hp1 NA18959.hp1 NA18971.hp1 NA18973.hp1 NA18977.hp1 NA18979.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp2 NA18989.hp1 NA18991.hp2 NA18999.hp1 NA19000.hp1 NA19004.hp1 NA19005.hp2 NA19056.hp1 NA19064.hp1 NA19078.hp2 NA19081.hp2 NA19082.hp1 NA19084.hp2 NA19085.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 others(40): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0146 a0001c0001t0001g0247 a0001c0001t0002g0014	43	288	0.1493	-43	c.664 others(58): Show c.664-347_664-305delAAGAAACATTAGCTGGGTGTGGTGGTGCAT TCCTGTAGTCCCA	EXOC6	ENSG00000138190.17	transcript	ENST00000260762.10	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
EXOSC7_chr3_44971244_45016471	44987098	AAAAAAAA others(36): Show AAAAAAAAAAAGTAAGAGTATCTATAGTATTCCACCCTTCATAT	A A	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	340	0.0029	-43	c.58- others(58): Show c.58-2039_58-1997delAAAAAAAAGTAAGAGTATCTATAGTATTCC ACCCTTCATATAA	EXOSC7	ENSG00000075914.13	transcript	ENST00000265564.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
EXTL1_chr1_26016775_26041464	26033090	CCAGGCGT others(36): Show CCAGGCGTCTACACTGTGCCTGAAGGGAGGCTTTATTCATGGCT	C C	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0057 a0002c0002t0001g0057	1	372	0.0027	-43	c.143 others(59): Show c.1432-115_1432-73delGGGAGGCTTTATTCATGGCTCAGGCGTCT ACACTGTGCCTGAA	EXTL1	ENSG00000158008.10	transcript	ENST00000374280.4	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
EYA2_chr20_46889843_47193844	47193297	TCACACCT others(36): Show TCACACCTGTAATCCCAGACCTTTGTGGGGGCCAAGGTGGGAGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0210 a0001c0001t0002g0210	1	238	0.0042	-43	c.51 others(54): Show c.5165_*5207delCACACCTGTAATCCCAGACCTTTGTGGGGGCCAA GGTGGGAGG	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding		4454		chr20	TogoVar
EZR_chr6_158760748_158824368	158803546	TATATATA others(36): Show TATATATATATATATATATATATATATATATATATACATATATA	T T	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	312	0.0032	-43	c.13- others(60): Show c.13-14218_13-14176delTATATATGTATATATATATATATATATA TATATATATATATAT	EZR	ENSG00000092820.19	transcript	ENST00000367075.4	protein_coding	2/13			chr6	TogoVar
F10_chr13_113117799_113154529	113154054	CGGGGGGC others(36): Show CGGGGGGCGGGGCGTGGGGGAGGCGGGGCGTGGGGGCGGGGCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0295 a0001c0004t0001g0295	1	412	0.0024	-43	c.45 others(54): Show c.4538_*4580delGGGGGGCGGGGCGTGGGGGAGGCGGGGCGTGGGG GCGGGGCGT	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding		4526		chr13	TogoVar
FAF2_chr5_176443385_176515074	176451856	ACACATAT others(36): Show ACACATATATATATACACACATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0088 a0001c0001t0003g0088	1	372	0.0027	-43	c.63+ others(58): Show c.63+3387_63+3429delCACATATATATATACACACATATATATATA TATATATTTTTTT	FAF2	ENSG00000113194.13	transcript	ENST00000261942.7	protein_coding	1/10			chr5	TogoVar
FAM178B_chr2_96870885_96991580	96876079	GGGGGTCG others(36): Show GGGGGTCGGGGCGGTGGCAGAGGCAGGCTCTTGCAGAGAGGAGA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0191 a0002c0002t0006g0191	1	250	0.0040	-43	c.15 others(52): Show c.154_*196delTCTCCTCTCTGCAAGAGCCTGCCTCTGCCACCGCCC CGACCCC	FAM178B	ENSG00000168754.15	transcript	ENST00000490605.3	protein_coding	17/17	154		chr2	TogoVar
FAM210A_chr18_13658347_13731558	13673297	TATTTCCA others(36): Show TATTTCCAGTTTCCTGATTATTAACATTCCTGAACCCCGACTTC	T T	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	326	0.0031	-43	c.474 others(60): Show c.474-1367_474-1325delGAAGTCGGGGTTCAGGAATGTTAATAAT CAGGAAACTGGAAAT	FAM210A	ENSG00000177150.13	transcript	ENST00000651643.1	protein_coding	2/3			chr18	TogoVar
FAM210A_chr18_13658347_13731558	13674363	TCTTGATT others(36): Show TCTTGATTTCCAGTTTCCTGATTATTAACATTCCTGAGCCCCGA	T T	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG03098.hp1 HG01074.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0008 a0001c0001t0019g0008	2	326	0.0061	-43	c.474 others(60): Show c.474-2433_474-2391delTCGGGGCTCAGGAATGTTAATAATCAGG AAACTGGAAATCAAG	FAM210A	ENSG00000177150.13	transcript	ENST00000651643.1	protein_coding	2/3			chr18	TogoVar
FAM210A_chr18_13658347_13731558	13674495	ACTTTATT others(36): Show ACTTTATTTCCAGTTTTCTGATTATTAACATTCCTGAGCCCTGG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02818.hp2 HG03225.hp2 others(5): Show HG02257.hp2 HG02818.hp2 HG03225.hp2 HG03688.hp2 HG04184.hp1 NA18953.hp2 NA18993.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0013 a0001c0002t0010 a0001c0002t0043 a0001c0001t0013 a0001c0002t0010 a0001c0002t0043	a0001c0001t0013g0048 a0001c0002t0010g0131 a0001c0002t0010g0132 others(5): Show a0001c0001t0013g0048 a0001c0002t0010g0131 a0001c0002t0010g0132 a0001c0002t0010g0133 a0001c0002t0010g0134 a0001c0002t0010g0135 a0001c0002t0010g0137 a0001c0002t0043g0136	8	326	0.0245	-43	c.474 others(60): Show c.474-2565_474-2523delCCAGGGCTCAGGAATGTTAATAATCAGA AAACTGGAAATAAAG	FAM210A	ENSG00000177150.13	transcript	ENST00000651643.1	protein_coding	2/3			chr18	TogoVar
FAM210A_chr18_13658347_13731558	13674673	ACTTCATT others(36): Show ACTTCATTTCCAGTTTCCTGATTATTAACATTCCTGAGCCCTAG	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01074.hp2 HG01258.hp2 others(19): Show HG00733.hp2 HG01074.hp2 HG01258.hp2 HG02258.hp1 HG02486.hp2 HG02738.hp1 HG02809.hp2 HG02896.hp2 HG03041.hp1 HG03098.hp1 HG03492.hp2 HG06807.hp1 NA18522.hp2 NA18959.hp1 NA18972.hp2 NA18975.hp2 NA18979.hp1 NA18982.hp1 NA18990.hp1 NA18998.hp2 NA19091.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(7): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0017 a0001c0001t0019 a0001c0001t0036 a0001c0003t0001 a0001c0003t0032	a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0149 others(17): Show a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0149 a0001c0001t0001g0164 a0001c0001t0001g0172 a0001c0001t0001g0188 a0001c0001t0001g0202 a0001c0001t0001g0207 a0001c0001t0001g0216 a0001c0001t0001g0253 a0001c0001t0006g0263 a0001c0001t0007g0055 a0001c0001t0008g0160 a0001c0001t0009g0042 a0001c0001t0009g0043 a0001c0001t0017g0097 a0001c0001t0019g0008 a0001c0001t0036g0195 a0001c0003t0001g0142 a0001c0003t0032g0037	22	326	0.0675	-43	c.474 others(60): Show c.474-2743_474-2701delCTAGGGCTCAGGAATGTTAATAATCAGG AAACTGGAAATGAAG	FAM210A	ENSG00000177150.13	transcript	ENST00000651643.1	protein_coding	2/3			chr18	TogoVar
FAM210A_chr18_13658347_13731558	13674680	TTCCAGTT others(36): Show TTCCAGTTTCCTGATTATTAACATTCCTGAGCCCTAGCTTCTTG	T T	intron_variant intron_variant	MODIFIER	HG02040.hp2 NA18747.hp1 NA18968.hp2 HG02040.hp2 NA18747.hp1 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0258	3	326	0.0092	-43	c.474 others(60): Show c.474-2750_474-2708delCAAGAAGCTAGGGCTCAGGAATGTTAAT AATCAGGAAACTGGA	FAM210A	ENSG00000177150.13	transcript	ENST00000651643.1	protein_coding	2/3			chr18	TogoVar

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