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
EPS8L2_chr11_701231_732727	720978	G G	GCCGGCAG others(14): Show GCCGGCAGGGGAGGGGAGGAGC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00408.hp2 others(61): Show HG00280.hp1 HG00323.hp1 HG00408.hp2 HG00423.hp2 HG00558.hp2 HG00735.hp1 HG00738.hp2 HG01109.hp1 HG01109.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG02040.hp1 HG02055.hp1 HG02257.hp2 HG02258.hp2 HG02486.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG03017.hp1 HG03130.hp2 HG03195.hp1 HG03516.hp1 HG03540.hp2 HG03831.hp1 HG03927.hp2 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18522.hp2 NA18906.hp1 NA18945.hp1 NA18947.hp1 NA18969.hp2 NA18974.hp2 NA18981.hp1 NA18981.hp2 NA19005.hp2 NA19012.hp1 NA19055.hp2 NA19057.hp1 NA19064.hp2 NA19065.hp1 NA19081.hp2 NA19085.hp1 NA19091.hp2 NA20752.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0002c0010 a0003c0008 a0003c0011 a0004c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(26): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0023 a0001c0002t0001 a0001c0002t0002 a0001c0002t0010 a0001c0002t0013 a0001c0002t0020 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0006 a0001c0003t0012 a0001c0004t0004 a0001c0004t0005 a0001c0004t0006 a0001c0004t0008 a0001c0004t0011 a0001c0005t0004 a0001c0006t0005 a0001c0006t0008 a0002c0010t0008 a0003c0008t0001 a0003c0011t0001 a0004c0007t0018	a0001c0001t0001g0169 a0001c0001t0001g0179 a0001c0001t0001g0215 others(57): Show a0001c0001t0001g0169 a0001c0001t0001g0179 a0001c0001t0001g0215 a0001c0001t0001g0234 a0001c0001t0001g0253 a0001c0001t0001g0259 a0001c0001t0001g0289 a0001c0001t0003g0057 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0079 a0001c0001t0003g0100 a0001c0001t0003g0103 a0001c0001t0004g0053 a0001c0001t0004g0093 a0001c0001t0006g0266 a0001c0001t0006g0333 a0001c0001t0007g0004 a0001c0001t0007g0122 a0001c0001t0023g0255 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0240 a0001c0002t0002g0017 a0001c0002t0010g0142 a0001c0002t0010g0257 a0001c0002t0010g0304 a0001c0002t0010g0321 a0001c0002t0013g0316 a0001c0002t0020g0283 a0001c0003t0001g0252 a0001c0003t0001g0334 a0001c0003t0001g0341 a0001c0003t0002g0133 a0001c0003t0003g0104 a0001c0003t0004g0039 a0001c0003t0004g0056 a0001c0003t0006g0307 a0001c0003t0012g0212 a0001c0004t0004g0043 a0001c0004t0005g0013 a0001c0004t0005g0044 a0001c0004t0005g0049 a0001c0004t0005g0077 a0001c0004t0005g0083 a0001c0004t0006g0298 a0001c0004t0008g0172 a0001c0004t0008g0345 a0001c0004t0011g0351 a0001c0005t0004g0068 a0001c0006t0005g0096 a0001c0006t0008g0332 a0002c0010t0008g0279 a0002c0010t0008g0280 a0003c0008t0001g0306 a0003c0011t0001g0151 a0003c0011t0001g0152 a0004c0007t0018g0276	64	406	0.1576	21	c.558 others(34): Show c.558-76_558-56dupGAGGGGAGGAGCCCGGCAGGG	EPS8L2	ENSG00000177106.17	transcript	ENST00000318562.13	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
EPS8L3_chr1_109745080_109768923	109763217	G G	GTTTGGGA others(14): Show GTTTGGGAGGACCCCTTTTCTC	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0102 a0001c0001t0004g0102	1	426	0.0024	21	c.-25 others(36): Show c.-25+584_-25+604dupGAGAAAAGGGGTCCTCCCAAA	EPS8L3	ENSG00000198758.11	transcript	ENST00000361965.9	protein_coding	1/18			chr1	TogoVar
EPSTI1_chr13_42881388_42997241	42968954	A A	ACACACAC others(14): Show ACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00597.hp2 HG01993.hp2 others(15): Show HG00408.hp2 HG00597.hp2 HG01993.hp2 HG02280.hp1 HG02523.hp2 HG02615.hp2 HG03654.hp1 HG04204.hp2 HG06807.hp2 NA18612.hp1 NA18952.hp1 NA18966.hp2 NA18975.hp1 NA18998.hp2 NA19004.hp1 NA19011.hp2 NA19067.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0013 a0001c0001t0014 others(10): Show a0001c0001t0002 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0019 a0001c0001t0050 a0001c0001t0055 a0001c0002t0003 a0001c0002t0006 a0001c0002t0007 a0001c0002t0011 a0001c0002t0025 a0001c0002t0048	a0001c0001t0002g0316 a0001c0001t0013g0125 a0001c0001t0014g0260 others(15): Show a0001c0001t0002g0316 a0001c0001t0013g0125 a0001c0001t0014g0260 a0001c0001t0014g0282 a0001c0001t0017g0126 a0001c0001t0019g0281 a0001c0001t0019g0309 a0001c0001t0050g0348 a0001c0001t0055g0221 a0001c0002t0003g0231 a0001c0002t0003g0280 a0001c0002t0003g0295 a0001c0002t0006g0247 a0001c0002t0007g0279 a0001c0002t0007g0350 a0001c0002t0011g0024 a0001c0002t0025g0232 a0001c0002t0048g0233	18	352	0.0511	21	c.331 others(36): Show c.331+139_331+140insGTGTGTGTGTGTGTGTGTGTG	EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding	3/10			chr13	TogoVar
ERAP1_chr5_96769484_96812945	96807713	C C	CGCCCCGT others(14): Show CGCCCCGTCTCCCTCCTCCCGT	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0055 a0004c0004t0001g0055	1	416	0.0024	21	c.-18 others(36): Show c.-18+126_-18+146dupACGGGAGGAGGGAGACGGGGC	ERAP1	ENSG00000164307.13	transcript	ENST00000443439.7	protein_coding	1/18			chr5	TogoVar
ERAP2_chr5_96871500_96924703	96874180	A A	AAGAAAGA others(14): Show AAGAAAGAAAGAAAGAAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0011	a0001c0004t0011g0134 a0001c0004t0011g0134	1	398	0.0025	21	c.-24 others(32): Show c.-2470_-2469insAGAAAGAAAGAAAGAAGAGAG	ERAP2	ENSG00000164308.17	transcript	ENST00000437043.8	protein_coding		2319		chr5	TogoVar
ERBB2_chr17_39695064_39733658	39724272	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(57): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00558.hp1 HG00639.hp1 HG00733.hp2 HG01074.hp2 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01496.hp1 HG01515.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01975.hp1 HG01981.hp2 HG02056.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02165.hp1 HG02257.hp2 HG02273.hp1 HG02602.hp2 HG02647.hp2 HG02970.hp2 HG03017.hp2 HG03139.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03654.hp2 HG03710.hp1 HG03831.hp1 HG03942.hp2 NA18939.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18952.hp1 NA18954.hp2 NA18957.hp2 NA18962.hp2 NA18969.hp1 NA18980.hp2 NA18984.hp2 NA19001.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19055.hp1 NA19070.hp1 NA19070.hp2 NA19087.hp1 NA20300.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0008 a0012	a0001c0004 a0001c0024 a0002c0002 others(4): Show a0001c0004 a0001c0024 a0002c0002 a0003c0003 a0003c0014 a0008c0025 a0012c0021	a0001c0004t0001 a0001c0024t0001 a0002c0002t0001 others(5): Show a0001c0004t0001 a0001c0024t0001 a0002c0002t0001 a0002c0002t0003 a0003c0003t0001 a0003c0014t0001 a0008c0025t0001 a0012c0021t0001	a0001c0004t0001g0028 a0001c0004t0001g0030 a0001c0004t0001g0098 others(29): Show a0001c0004t0001g0028 a0001c0004t0001g0030 a0001c0004t0001g0098 a0001c0024t0001g0097 a0002c0002t0001g0003 a0002c0002t0001g0010 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0036 a0002c0002t0001g0120 a0002c0002t0001g0128 a0002c0002t0001g0132 a0002c0002t0001g0139 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0149 a0002c0002t0003g0003 a0002c0002t0003g0106 a0003c0003t0001g0003 a0003c0003t0001g0010 a0003c0003t0001g0014 a0003c0003t0001g0032 a0003c0003t0001g0051 a0003c0003t0001g0055 a0003c0003t0001g0115 a0003c0003t0001g0126 a0003c0003t0001g0135 a0003c0003t0001g0142 a0003c0014t0001g0134 a0008c0025t0001g0014 a0012c0021t0001g0116	60	318	0.1887	21	c.230 others(38): Show c.2307+278_2307+279insTTTTTTTTTTTTTTTTTTTTT	ERBB2	ENSG00000141736.14	transcript	ENST00000269571.10	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr17	TogoVar
ERBB4_chr2_211370717_212543802	211560262	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0029 a0001c0001t0017g0029	1	56	0.0179	21	c.248 others(40): Show c.2487+1620_2487+1640dupAAAAAAAAAAAAAAAAAAAAA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	20/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211944176	A A	ATACTATA others(14): Show ATACTATATATATATATATAGT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0037 a0001c0002t0001g0037	1	56	0.0179	21	c.421 others(38): Show c.421+3253_421+3254insACTATATATATATATATAGTA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	3/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212188233	T T	TCTCTCTC others(14): Show TCTCTCTCTCTCTCTCTCTCCC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	56	0.0179	21	c.83- others(38): Show c.83-63331_83-63330insGGGAGAGAGAGAGAGAGAGAG	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212286594	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0040 a0001c0001t0003g0040	1	56	0.0179	21	c.83- others(40): Show c.83-161712_83-161692dupAAAAAAAAAAAAAAAAAAAAA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212540894	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp2 HG02965.hp2 HG02717.hp1 HG02717.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007	a0001c0001t0003g0017 a0001c0001t0004g0011 a0001c0001t0007g0018 a0001c0001t0003g0017 a0001c0001t0004g0011 a0001c0001t0007g0018	3	56	0.0536	21	c.-23 others(32): Show c.-2365_-2364insTTTTTTTTTTTTTTTTTTTTT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding		2093		chr2	TogoVar
ERBIN_chr5_65921575_66087546	66018466	A A	ATATATAT others(14): Show ATATATATTATATATTATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA18962.hp1 HG00438.hp2 NA18962.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0296 a0001c0002t0002g0297 a0001c0002t0002g0296 a0001c0002t0002g0297	2	306	0.0065	21	c.534 others(38): Show c.534-2850_534-2830dupATTATATATTATATATTATAT	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	7/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERBIN_chr5_65921575_66087546	66018586	T T	TTATATAT others(14): Show TTATATATTATATAATATATAA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0092 a0001c0001t0028g0092	1	306	0.0033	21	c.534 others(38): Show c.534-2730_534-2729insTTATATAATATATAATATATA	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	7/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERBIN_chr5_65921575_66087546	66051907	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0010 a0001c0007t0010	a0001c0007t0010g0275 a0001c0007t0010g0275	1	306	0.0033	21	c.208 others(38): Show c.2087+942_2087+943insAAAAAAAAAAAAAAAAAAAGA	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	20/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERC1_chr12_986223_1500931	1216607	A A	AGGAGGGA others(14): Show AGGAGGGATGGGGGGCGGGGGG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02622.hp2 HG02809.hp2 others(4): Show HG01361.hp2 HG02622.hp2 HG02809.hp2 HG02922.hp2 HG03130.hp2 HG06807.hp2 NA18966.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0033 a0001c0001t0034 a0001c0001t0130 others(4): Show a0001c0001t0033 a0001c0001t0034 a0001c0001t0130 a0002c0002t0036 a0002c0002t0037 a0002c0002t0098 a0002c0002t0101	a0001c0001t0033g0111 a0001c0001t0034g0161 a0001c0001t0130g0102 others(4): Show a0001c0001t0033g0111 a0001c0001t0034g0161 a0001c0001t0130g0102 a0002c0002t0036g0158 a0002c0002t0037g0042 a0002c0002t0098g0045 a0002c0002t0101g0056	7	162	0.0432	21	c.235 others(42): Show c.2352-20148_2352-20147insCGGGGGGGGAGGGATGGGGGG	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1216615	T T	TGGGGGGC others(14): Show TGGGGGGCGGGGGGGAGGGATG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0067	a0001c0001t0067g0121 a0001c0001t0067g0121	1	162	0.0062	21	c.235 others(42): Show c.2352-20148_2352-20147insCGGGGGGGAGGGATGGGGGGG	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1402615	A A	ACACACAC others(14): Show ACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0066 a0002c0002t0066	a0002c0002t0066g0139 a0002c0002t0066g0139	1	162	0.0062	21	c.292 others(40): Show c.2926-5533_2926-5513dupCACACACACACACACACACAC	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	16/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1493544	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02257.hp1 NA20129.hp2 HG02257.hp1 NA20129.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0022 a0001c0003t0046 a0001c0003t0022 a0001c0003t0046	a0001c0003t0022g0114 a0001c0003t0046g0088 a0001c0003t0022g0114 a0001c0003t0046g0088	2	162	0.0124	21	c.33 others(32): Show c.3314_*3315insTATATATATATATATATATAT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	19/19	3315		chr12	TogoVar
ERC1_chr12_986223_1500931	1493546	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02647.hp1 NA21309.hp1 HG02647.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0021 a0002c0002t0116 a0001c0001t0021 a0002c0002t0116	a0001c0001t0021g0116 a0002c0002t0116g0107 a0001c0001t0021g0116 a0002c0002t0116g0107	2	162	0.0124	21	c.33 others(32): Show c.3316_*3317insTATATATATATATATATATAT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	19/19	3317		chr12	TogoVar
ERC1_chr12_986223_1500931	1493548	A A	AAAAAAAA others(14): Show AAAAAAAAAAATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0083	a0001c0001t0083g0130 a0001c0001t0083g0130	1	162	0.0062	21	c.33 others(32): Show c.3319_*3320insAAAAAAAAATATATATATATA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	19/19	3320	INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1493548	A A	AAAAATAT others(14): Show AAAAATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02922.hp1 HG03225.hp1 HG02922.hp1 HG03225.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0054 a0002c0002t0081 a0002c0002t0054 a0002c0002t0081	a0002c0002t0054g0135 a0002c0002t0081g0123 a0002c0002t0054g0135 a0002c0002t0081g0123	2	162	0.0124	21	c.33 others(32): Show c.3319_*3320insAAATATATATATATATATATA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	19/19	3320	INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC2_chr3_55503311_56473467	55539415	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0058	1	74	0.0135	21	c.40 others(40): Show c.40-28160_*40-28140dupAAAAAAAAAAAAAAAAAAAAA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	17/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55553011	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03834.hp2 HG03831.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0040 a0001c0001t0002g0049 a0001c0001t0002g0040 a0001c0001t0002g0049	2	74	0.0270	21	c.40 others(40): Show c.40-41756_*40-41736dupAAAAAAAAAAAAAAAAAAAAA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	17/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55583473	T T	TCCCTCCC others(14): Show TCCCTCCCTCCTTCCTTCTCTC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01346.hp1 HG02630.hp1 others(2): Show HG01099.hp1 HG01346.hp1 HG02630.hp1 HG02738.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0002c0003t0003	a0001c0001t0002g0008 a0001c0001t0002g0029 a0001c0001t0003g0051 others(2): Show a0001c0001t0002g0008 a0001c0001t0002g0029 a0001c0001t0003g0051 a0001c0002t0001g0042 a0002c0003t0003g0025	5	74	0.0676	21	c.40 others(40): Show c.40-72198_*40-72197insGAGAGAAGGAAGGAGGGAGGG	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	17/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55691573	A A	AAAAATAT others(14): Show AAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0073 a0001c0001t0009g0073	1	74	0.0135	21	c.284 others(40): Show c.2848-7715_2848-7714insATATATATATATATATATTTT	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	16/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55977372	G G	GGGCAGGG others(14): Show GGGCAGGGGGAGCATTTAAAAC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01099.hp1 HG01109.hp1 others(30): Show HG00741.hp2 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp1 HG02040.hp2 HG02145.hp2 HG02258.hp2 HG02486.hp2 HG02630.hp1 HG02630.hp2 HG02723.hp2 HG02738.hp1 HG02809.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03831.hp1 HG03834.hp2 HG06807.hp1 NA18962.hp1 NA19030.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0004t0001	a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0033 others(30): Show a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0052 a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0011 a0001c0001t0002g0021 a0001c0001t0002g0032 a0001c0001t0002g0040 a0001c0001t0002g0054 a0001c0001t0002g0058 a0001c0001t0002g0064 a0001c0001t0002g0066 a0001c0001t0003g0068 a0001c0001t0004g0020 a0001c0001t0004g0022 a0001c0001t0005g0063 a0001c0001t0005g0071 a0001c0001t0006g0026 a0001c0001t0006g0027 a0001c0001t0007g0024 a0001c0001t0009g0073 a0001c0001t0010g0045 a0001c0001t0012g0023 a0001c0002t0001g0003 a0001c0002t0001g0014 a0001c0002t0001g0042 a0001c0002t0002g0016 a0001c0002t0004g0001 a0001c0004t0001g0031	33	74	0.4460	21	c.226 others(40): Show c.2267+8604_2267+8605insGTTTTAAATGCTCCCCCTGCC	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	12/17			chr3	TogoVar
ERCC1_chr19_45402334_45428917	45410565	T T	TGTGTGTG others(14): Show TGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0149 a0001c0001t0003g0149	1	420	0.0024	21	c.844 others(36): Show c.844-841_844-840insCACACACACACACACACACAC	ERCC1	ENSG00000012061.17	transcript	ENST00000300853.8	protein_coding	9/9			chr19	TogoVar
ERCC6L_chrX_72199665_72244027	72238948	T T	TTTGGAGC others(14): Show TTTGGAGCTTGGAGCTTGGAGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0216 a0001c0001t0009g0216	1	286	0.0035	21	c.-58 others(28): Show c.-58_-38dupGCTCCAAGCTCCAAGCTCCAA	ERCC6L	ENSG00000186871.7	transcript	ENST00000334463.4	protein_coding	1/2	38		chrX	TogoVar
EREG_chr4_74360145_74393749	74363493	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02451.hp1 HG03486.hp1 others(6): Show HG01884.hp1 HG02451.hp1 HG03486.hp1 HG03540.hp1 HG04115.hp2 NA18944.hp1 NA18990.hp2 NA18998.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0216 others(6): Show a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0216 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0222 a0001c0001t0003g0224 a0001c0001t0004g0194	9	358	0.0251	21	c.-18 others(32): Show c.-1816_-1815insTTTTTTTTTTTTTTTTTTTTT	EREG	ENSG00000124882.4	transcript	ENST00000244869.3	protein_coding		1651		chr4	TogoVar
ERFL_chr19_41902704_41933449	41914569	G G	GTCTCTCC others(14): Show GTCTCTCCCTCCCCTTCCACCA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	330	0.0030	21	c.-13 others(38): Show c.-13-1638_-13-1637insTGGTGGAAGGGGAGGGAGAGA	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar
ERFL_chr19_41902704_41933449	41914569	G G	GTCTCTCC others(14): Show GTCTCTCCCTCCCTTTCCACCA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	330	0.0030	21	c.-13 others(38): Show c.-13-1638_-13-1637insTGGTGGAAAGGGAGGGAGAGA	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar
ERFL_chr19_41902704_41933449	41914615	C C	CCTCCACC others(14): Show CCTCCACCGTGTCTCCCCCCCT	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0249 a0001c0001t0003g0249	1	330	0.0030	21	c.-13 others(38): Show c.-13-1684_-13-1683insAGGGGGGGAGACACGGTGGAG	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar
ERFL_chr19_41902704_41933449	41914628	T T	TGTCTCTC others(14): Show TGTCTCTCCCTCCCCTTCCACC	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	330	0.0030	21	c.-13 others(38): Show c.-13-1697_-13-1696insGGTGGAAGGGGAGGGAGAGAC	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar
ERFL_chr19_41902704_41933449	41914629	G G	GTCTCTCC others(14): Show GTCTCTCCCTCCCCTTCCACCA	intron_variant intron_variant	MODIFIER	HG02155.hp1 NA18964.hp2 NA18983.hp1 HG02155.hp1 NA18964.hp2 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0081 a0001c0001t0001g0180 a0001c0001t0001g0064 a0001c0001t0001g0081 a0001c0001t0001g0180	3	330	0.0091	21	c.-13 others(38): Show c.-13-1698_-13-1697insTGGTGGAAGGGGAGGGAGAGA	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar
ERFL_chr19_41902704_41933449	41914675	C C	CCTCCACC others(14): Show CCTCCACCGTGTCTCCCCCCCT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0116 a0001c0002t0002g0116	1	330	0.0030	21	c.-13 others(38): Show c.-13-1744_-13-1743insAGGGGGGGAGACACGGTGGAG	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar
ERFL_chr19_41902704_41933449	41914702	C C	CCTCCACC others(14): Show CCTCCACCGTGTCTCCCCCCCT	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA19030.hp2 HG02886.hp1 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0150 a0001c0002t0002g0190 a0001c0002t0002g0150 a0001c0002t0002g0190	2	330	0.0061	21	c.-13 others(38): Show c.-13-1771_-13-1770insAGGGGGGGAGACACGGTGGAG	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar
ERFL_chr19_41902704_41933449	41914729	C C	CCTCCACC others(14): Show CCTCCACCGTGTCTCCCCCCCT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0000 a0000	a0000c0003 a0000c0003	a0000c0003t0003 a0000c0003t0003	a0000c0003t0003g0238 a0000c0003t0003g0238	1	330	0.0030	21	c.-13 others(38): Show c.-13-1798_-13-1797insAGGGGGGGAGACACGGTGGAG	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar
ERGIC1_chr5_172829251_172957683	172909168	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	334	0.0030	21	c.156 others(36): Show c.156-481_156-480insTTTTTTTTTTTTTTTTTTTTT	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC3_chr20_35537078_35562634	35539469	T T	TTTATATA others(14): Show TTTATATATAATATATATAACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	364	0.0028	21	c.-26 others(32): Show c.-2629_-2628insTTATATATAATATATATAACA	ERGIC3	ENSG00000125991.21	transcript	ENST00000348547.7	protein_coding		2608		chr20	TogoVar
ERGIC3_chr20_35537078_35562634	35553020	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18990.hp1 NA18997.hp1 others(3): Show NA18981.hp2 NA18990.hp1 NA18997.hp1 NA19074.hp1 NA19091.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0077 a0001c0001t0001g0106 others(2): Show a0001c0001t0001g0041 a0001c0001t0001g0077 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0160	6	364	0.0165	21	c.686 others(38): Show c.686-2016_686-1996dupTTTTTTTTTTTTTTTTTTTTT	ERGIC3	ENSG00000125991.21	transcript	ENST00000348547.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
ERI1_chr8_8997897_9038338	9010607	C C	CTTTACTT others(14): Show CTTTACTTGTATCTACACATTA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0042 a0003c0007t0042	a0003c0007t0042g0270 a0003c0007t0042g0270	1	426	0.0024	21	c.288 others(36): Show c.288-927_288-926insTATCTACACATTATTTACTTG	ERI1	ENSG00000104626.15	transcript	ENST00000250263.8	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERI1_chr8_8997897_9038338	9018761	T T	TGCCATTA others(14): Show TGCCATTAATCCTCTTTAGTCA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03540.hp2 HG02258.hp1 HG03540.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0026 a0001c0004t0026	a0001c0004t0026g0299 a0001c0004t0026g0300 a0001c0004t0026g0299 a0001c0004t0026g0300	2	426	0.0047	21	c.692 others(36): Show c.692+357_692+377dupCCATTAATCCTCTTTAGTCAG	ERI1	ENSG00000104626.15	transcript	ENST00000250263.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERI3_chr1_44216070_44360257	44357723	G G	GGGGGAAG others(14): Show GGGGGAAGGGGGGAAGTGAAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02895.hp1 HG02970.hp2 HG02723.hp1 HG02895.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226	3	340	0.0088	21	c.-26 others(32): Show c.-2698_-2697insGCTTCACTTCCCCCCTTCCCC	ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding		2467		chr1	TogoVar
ERICH1_chr8_659200_736224	691185	C C	CACCAGGC others(14): Show CACCAGGCGATCCTGACAGCCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00609.hp1 others(124): Show HG00099.hp1 HG00140.hp2 HG00609.hp1 HG00673.hp2 HG00738.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp1 HG01496.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp2 HG02132.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02273.hp2 HG02300.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02738.hp2 HG02818.hp1 HG02895.hp2 HG02970.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03654.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 NA18747.hp1 NA18747.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18950.hp1 NA18950.hp2 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 NA19030.hp2 NA19056.hp2 NA19060.hp2 NA19068.hp1 NA19070.hp2 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 a0009 a0010 a0001 a0009 a0010	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0009c0012 a0010c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0003t0002 a0001c0009t0001 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 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0142 a0001c0001t0001g0146 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0182 a0001c0001t0001g0192 a0001c0001t0001g0203 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0220 a0001c0001t0001g0227 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0002g0012 a0001c0001t0002g0274 a0001c0001t0002g0290 a0001c0001t0003g0108 a0001c0002t0001g0005 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0074 a0001c0002t0001g0076 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0083 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0102 a0001c0002t0001g0106 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0002g0265 a0001c0002t0002g0270 a0001c0002t0002g0279 a0001c0003t0002g0312 a0001c0003t0002g0313 a0001c0003t0002g0314 a0001c0009t0001g0120 a0001c0009t0001g0234 a0009c0012t0001g0119 a0010c0015t0001g0084	127	378	0.3360	21	c.304 others(38): Show c.304+1292_304+1293insAGGCTGTCAGGATCGCCTGGT	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	691185	C C	CGCCAGGC others(14): Show CGCCAGGCGATCCTGAAAGCCT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0210 a0001c0013t0001g0210	1	378	0.0027	21	c.304 others(38): Show c.304+1292_304+1293insAGGCTTTCAGGATCGCCTGGC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	691185	C C	CGCCAGGC others(14): Show CGCCAGGCGATCCTGACAGCCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(232): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01256.hp2 HG01261.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01934.hp2 HG01952.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18951.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18970.hp1 NA18977.hp1 NA18977.hp2 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18990.hp2 NA18991.hp2 NA18992.hp1 NA18994.hp1 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19060.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp2 NA19078.hp2 NA19079.hp1 NA19080.hp2 NA19084.hp1 NA19085.hp1 NA19087.hp2 NA19088.hp2 NA19089.hp2 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0011 a0012	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0014 a0002c0005 a0003c0004 a0004c0006 a0005c0007 a0006c0008 a0007c0011 a0008c0016 a0011c0010 a0012c0017	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0014t0001 a0002c0005t0001 a0002c0005t0002 a0003c0004t0001 a0003c0004t0002 a0004c0006t0002 a0005c0007t0001 a0006c0008t0001 a0007c0011t0002 a0008c0016t0002 a0011c0010t0002 a0012c0017t0002	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 others(225): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0079 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0002g0011 a0001c0001t0002g0244 a0001c0001t0002g0246 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0292 a0001c0001t0002g0297 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0001t0002g0349 a0001c0001t0002g0351 a0001c0001t0002g0352 a0001c0001t0002g0353 a0001c0001t0002g0354 a0001c0001t0002g0355 a0001c0001t0002g0357 a0001c0001t0002g0358 a0001c0001t0002g0359 a0001c0001t0002g0360 a0001c0001t0002g0361 a0001c0001t0002g0362 a0001c0001t0002g0363 a0001c0001t0002g0364 a0001c0001t0002g0365 a0001c0002t0001g0023 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0144 a0001c0002t0002g0298 a0001c0002t0002g0324 a0001c0002t0002g0327 a0001c0002t0002g0328 a0001c0002t0002g0329 a0001c0002t0002g0333 a0001c0002t0002g0334 a0001c0002t0002g0335 a0001c0002t0002g0336 a0001c0002t0002g0337 a0001c0002t0002g0338 a0001c0002t0002g0339 a0001c0002t0002g0340 a0001c0002t0002g0341 a0001c0002t0002g0342 a0001c0002t0002g0343 a0001c0002t0002g0344 a0001c0002t0002g0345 a0001c0002t0002g0346 a0001c0002t0002g0347 a0001c0002t0002g0348 a0001c0002t0002g0350 a0001c0002t0005g0243 a0001c0003t0001g0124 a0001c0003t0001g0125 a0001c0003t0001g0126 a0001c0003t0001g0127 a0001c0003t0001g0128 a0001c0003t0001g0129 a0001c0003t0001g0218 a0001c0003t0001g0224 a0001c0003t0002g0252 a0001c0003t0002g0299 a0001c0003t0002g0300 a0001c0003t0002g0301 a0001c0003t0002g0302 a0001c0003t0002g0303 a0001c0003t0002g0304 a0001c0003t0002g0305 a0001c0003t0002g0306 a0001c0003t0002g0318 a0001c0003t0002g0319 a0001c0003t0002g0320 a0001c0003t0002g0321 a0001c0003t0004g0229 a0001c0014t0001g0077 a0002c0005t0001g0235 a0002c0005t0001g0236 a0002c0005t0001g0237 a0002c0005t0002g0284 a0003c0004t0001g0078 a0003c0004t0002g0291 a0003c0004t0002g0322 a0003c0004t0002g0323 a0004c0006t0002g0250 a0004c0006t0002g0251 a0004c0006t0002g0325 a0005c0007t0001g0238 a0005c0007t0001g0239 a0005c0007t0001g0240 a0006c0008t0001g0131 a0006c0008t0001g0179 a0007c0011t0002g0245 a0008c0016t0002g0326 a0011c0010t0002g0356 a0012c0017t0002g0366	235	378	0.6217	21	c.304 others(38): Show c.304+1292_304+1293insAGGCTGTCAGGATCGCCTGGC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	691185	C C	CGCCAGGT others(14): Show CGCCAGGTGATCCTGACAGCCT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0247 a0001c0001t0002g0247	1	378	0.0027	21	c.304 others(38): Show c.304+1292_304+1293insAGGCTGTCAGGATCACCTGGC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	708681	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0280 a0001c0001t0002g0280	1	378	0.0027	21	c.169 others(38): Show c.169+7159_169+7179dupAAAAAAAAAAAAAAAAAAAAA	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH5_chr8_98059568_98098609	98070660	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG06807.hp1 HG02280.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0048 a0001c0001t0002g0047 a0001c0001t0001g0048 a0001c0001t0002g0047	2	442	0.0045	21	c.58+ others(36): Show c.58+5935_58+5955dupAAAAAAAAAAAAAAAAAAAAA	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERICH5_chr8_98059568_98098609	98091900	C C	CTTTTTCT others(14): Show CTTTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03130.hp2 HG03041.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0344 a0001c0001t0001g0037 a0001c0001t0001g0344	2	442	0.0045	21	c.101 others(40): Show c.1013-1321_1013-1320insTTTTTCTTTCTTTCTTTCTTT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	2/2			chr8	TogoVar

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