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
EMC8_chr16_85773624_85804544	85800037	AGGCTGCG others(35): Show AGGCTGCGGGGAGGCGGGCCCGCGCTCTGTGCCTGCAGCCTCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG03139.hp2 others(2): Show HG01167.hp1 HG01169.hp2 HG03139.hp2 HG03195.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0018 a0001c0001t0016 a0001c0001t0018	a0001c0001t0016g0041 a0001c0001t0016g0117 a0001c0001t0018g0118 others(1): Show a0001c0001t0016g0041 a0001c0001t0016g0117 a0001c0001t0018g0118 a0001c0001t0018g0144	5	408	0.0123	-42	c.-78 others(51): Show c.-784_-743delGGAGGCTGCAGGCACAGAGCGCGGGCCCGCCTCCCC GCAGCC	EMC8	ENSG00000131148.9	transcript	ENST00000253457.8	protein_coding		494		chr16	TogoVar
ENKUR_chr10_24976985_25021158	24988312	GTGTGTAT others(35): Show GTGTGTATATATATTTATATATGTGTATATATATATTTATATA	G G	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03831.hp1 HG03704.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0111 a0001c0001t0002g0112	2	384	0.0052	-42	c.594 others(59): Show c.594+2109_594+2150delTATATAAATATATATATACACATATATA AATATATATACACA	ENKUR	ENSG00000151023.17	transcript	ENST00000331161.9	protein_coding	4/5			chr10	TogoVar
ENOSF1_chr18_665318_717630	666915	TGATGGAG others(35): Show TGATGGAGATGGTGATGGTGATGGAGATGGTGATGGTGATGGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0026 a0002c0002t0009g0026	1	418	0.0024	-42	c.73 others(53): Show c.7348_*7389delTCCATCACCATCACCATCTCCATCACCATCACCA TCTCCATC	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		3402		chr18	TogoVar
ENOSF1_chr18_665318_717630	667023	AGATGGTG others(35): Show AGATGGTGATGGAGATGGTGATGGTGATGGAGATGGAGATGGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0015 a0003c0007t0015	a0003c0007t0015g0360 a0003c0007t0015g0360	1	418	0.0024	-42	c.72 others(53): Show c.7240_*7281delACCATCTCCATCTCCATCACCATCACCATCTCCA TCACCATC	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		3294		chr18	TogoVar
ENPP3_chr6_131632302_131752410	131738525	GCTAAGGT others(35): Show GCTAAGGTAAATTTTACAAGAATAGTGAAAAGTCAAGTAAAGA	G G	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	278	0.0036	-42	c.230 others(59): Show c.2300+391_2300+432delAAGTCAAGTAAAGACTAAGGTAAATTTT ACAAGAATAGTGAA	ENPP3	ENSG00000154269.15	transcript	ENST00000357639.8	protein_coding	23/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
ENTREP1_chr9_69320215_69397456	69340595	ATGCATGT others(35): Show ATGCATGTGTGTGTGTGCATGTGTGTGTGCATGTGTGTGTGCG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02970.hp1 HG02451.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0211 a0001c0001t0001g0212	2	342	0.0059	-42	c.471 others(59): Show c.471+4341_471+4382delTGCATGTGTGTGTGCATGTGTGTGTGCG TGCATGTGTGTGTG	ENTREP1	ENSG00000135063.20	transcript	ENST00000303068.14	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
EPHA3_chr3_89102621_89487134	89211725	TTTCTTCT others(35): Show TTTCTTCTTCTTCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02622.hp2 HG03704.hp2 others(2): Show HG01243.hp1 HG02622.hp2 HG03704.hp2 NA18941.hp2 NA18960.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0003 a0004c0007 a0001c0001 a0002c0003 a0004c0007	a0001c0001t0001 a0002c0003t0003 a0004c0007t0005 a0001c0001t0001 a0002c0003t0003 a0004c0007t0005	a0001c0001t0001g0185 a0002c0003t0003g0013 a0002c0003t0003g0017 others(2): Show a0001c0001t0001g0185 a0002c0003t0003g0013 a0002c0003t0003g0017 a0004c0007t0005g0005 a0004c0007t0005g0006	5	200	0.0250	-42	c.814 others(59): Show c.814+1222_814+1263delCCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCT	EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA4_chr2_221413027_221577304	221566915	AGAAGGAG others(35): Show AGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0243 a0001c0001t0034g0243	1	294	0.0034	-42	c.159 others(59): Show c.159+1761_159+1802delCCCTTCTCCTTCTCCTTCTCCTTCTCCT TCTCCTTCTCCTTC	EPHA4	ENSG00000116106.12	transcript	ENST00000281821.7	protein_coding	2/17			chr2	TogoVar
EPHA5_chr4_65314567_65675489	65574657	TATATATA others(35): Show TATATATATACACATATATATACATATATATACATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00438.hp1 others(63): Show HG00099.hp2 HG00280.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp2 HG00609.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01109.hp1 HG01167.hp1 HG01175.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01515.hp1 HG01943.hp2 HG01978.hp2 HG01981.hp2 HG02040.hp1 HG02040.hp2 HG02135.hp1 HG02165.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02559.hp2 HG02572.hp2 HG02698.hp1 HG02738.hp1 HG02886.hp1 HG02897.hp1 HG03195.hp1 HG03239.hp2 NA18946.hp2 NA18951.hp2 NA18957.hp1 NA18957.hp2 NA18967.hp1 NA18970.hp2 NA18981.hp1 NA18981.hp2 NA18984.hp1 NA18984.hp2 NA18989.hp1 NA18993.hp2 NA19002.hp1 NA19004.hp2 NA19006.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19062.hp1 NA19063.hp2 NA19066.hp2 NA19083.hp2 NA19088.hp1 NA19091.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0001c0009 others(4): Show a0001c0001 a0001c0002 a0001c0009 a0001c0010 a0002c0007 a0002c0008 a0006c0012	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(21): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0015 a0001c0001t0019 a0001c0001t0022 a0001c0001t0023 a0001c0001t0030 a0001c0001t0049 a0001c0001t0050 a0001c0001t0053 a0001c0001t0057 a0001c0002t0001 a0001c0002t0002 a0001c0002t0029 a0001c0002t0048 a0001c0002t0052 a0001c0009t0059 a0001c0010t0061 a0002c0007t0002 a0002c0008t0041 a0006c0012t0029	a0001c0001t0003g0041 a0001c0001t0003g0103 a0001c0001t0004g0017 others(63): Show a0001c0001t0003g0041 a0001c0001t0003g0103 a0001c0001t0004g0017 a0001c0001t0005g0183 a0001c0001t0005g0204 a0001c0001t0005g0206 a0001c0001t0005g0210 a0001c0001t0005g0212 a0001c0001t0005g0229 a0001c0001t0007g0167 a0001c0001t0007g0170 a0001c0001t0007g0175 a0001c0001t0007g0185 a0001c0001t0007g0218 a0001c0001t0007g0220 a0001c0001t0007g0222 a0001c0001t0007g0224 a0001c0001t0011g0184 a0001c0001t0011g0197 a0001c0001t0011g0198 a0001c0001t0011g0199 a0001c0001t0011g0200 a0001c0001t0011g0201 a0001c0001t0015g0188 a0001c0001t0015g0207 a0001c0001t0015g0213 a0001c0001t0015g0215 a0001c0001t0019g0104 a0001c0001t0022g0186 a0001c0001t0022g0192 a0001c0001t0023g0179 a0001c0001t0023g0182 a0001c0001t0023g0195 a0001c0001t0030g0165 a0001c0001t0049g0174 a0001c0001t0050g0191 a0001c0001t0053g0178 a0001c0001t0057g0190 a0001c0002t0001g0101 a0001c0002t0002g0159 a0001c0002t0002g0164 a0001c0002t0002g0166 a0001c0002t0002g0168 a0001c0002t0002g0169 a0001c0002t0002g0171 a0001c0002t0002g0173 a0001c0002t0002g0176 a0001c0002t0002g0177 a0001c0002t0002g0180 a0001c0002t0002g0193 a0001c0002t0002g0196 a0001c0002t0002g0202 a0001c0002t0002g0203 a0001c0002t0002g0208 a0001c0002t0002g0209 a0001c0002t0002g0216 a0001c0002t0002g0219 a0001c0002t0002g0223 a0001c0002t0029g0162 a0001c0002t0048g0226 a0001c0002t0052g0217 a0001c0009t0059g0232 a0001c0010t0061g0234 a0002c0007t0002g0161 a0002c0008t0041g0056 a0006c0012t0029g0205	66	234	0.2821	-42	c.910 others(61): Show c.910+26942_910+26983delGTATATATATGTATATATATGTATAT ATATGTGTATATATAT	EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	3/16			chr4	TogoVar
EPHA6_chr3_96809594_97766532	97327957	GTGTGTAT others(35): Show GTGTGTATATATATGTATATGTGCATATATATGTATATGTGTA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02572.hp2 HG02615.hp2 others(4): Show HG01243.hp2 HG02572.hp2 HG02615.hp2 HG02809.hp1 HG03139.hp2 HG03225.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 a0001c0001 a0001c0003 a0001c0006	a0001c0001t0004 a0001c0003t0003 a0001c0003t0004 others(3): Show a0001c0001t0004 a0001c0003t0003 a0001c0003t0004 a0001c0003t0011 a0001c0003t0018 a0001c0006t0002	a0001c0001t0004g0071 a0001c0003t0003g0012 a0001c0003t0004g0004 others(4): Show a0001c0001t0004g0071 a0001c0003t0003g0012 a0001c0003t0004g0004 a0001c0003t0004g0010 a0001c0003t0011g0002 a0001c0003t0018g0020 a0001c0006t0002g0047	7	82	0.0854	-42	c.160 others(63): Show c.1607-77189_1607-77148delGTATATATATGTATATGTGCATAT ATATGTATATGTGTATGT	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
ERBIN_chr5_65921575_66087546	65930989	GTGTGGAA others(35): Show GTGTGGAAGACGATAGAAAAGGAGAATATCTAAAAATTCACTT	G G	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02109.hp1 HG02258.hp1 others(13): Show HG01167.hp2 HG02109.hp1 HG02258.hp1 HG02451.hp2 HG02572.hp1 HG02723.hp2 HG02818.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG03041.hp1 HG03139.hp2 HG03209.hp2 HG03471.hp1 HG03486.hp2 HG03579.hp2	a0004 a0004	a0004c0005 a0004c0014 a0004c0017 a0004c0005 a0004c0014 a0004c0017	a0004c0005t0004 a0004c0005t0025 a0004c0014t0004 others(1): Show a0004c0005t0004 a0004c0005t0025 a0004c0014t0004 a0004c0017t0004	a0004c0005t0004g0007 a0004c0005t0004g0008 a0004c0005t0004g0009 others(13): Show a0004c0005t0004g0007 a0004c0005t0004g0008 a0004c0005t0004g0009 a0004c0005t0004g0010 a0004c0005t0004g0013 a0004c0005t0004g0014 a0004c0005t0004g0015 a0004c0005t0004g0016 a0004c0005t0004g0017 a0004c0005t0004g0019 a0004c0005t0004g0020 a0004c0005t0004g0021 a0004c0005t0004g0027 a0004c0005t0025g0012 a0004c0014t0004g0018 a0004c0017t0004g0011	16	306	0.0523	-42	c.-58 others(59): Show c.-58+4226_-58+4267delTGTGGAAGACGATAGAAAAGGAGAATAT CTAAAAATTCACTT	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERC1_chr12_986223_1500931	1122265	ATCTCTAT others(35): Show ATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCTATCTGTG	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02896.hp2 HG02809.hp1 HG02896.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0075 a0002c0002t0140 a0002c0002t0075 a0002c0002t0140	a0002c0002t0075g0073 a0002c0002t0140g0108 a0002c0002t0075g0073 a0002c0002t0140g0108	2	162	0.0124	-42	c.156 others(61): Show c.1569+6242_1569+6283delGTGTCTCTATCTCTATCTCTATCTCT ATCTGTGTCTCTATCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1196905	TACACACA others(35): Show TACACACACACACACACACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0089 a0002c0002t0002g0089	1	162	0.0062	-42	c.235 others(61): Show c.2351+6869_2351+6910delCACACACACACACACACACACACACA CACACACACACACACA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC2_chr3_55503311_56473467	55720131	CTCTTCTT others(35): Show CTCTTCTTCTTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	74	0.0135	-42	c.271 others(63): Show c.2712+14598_2712+14639delAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAGGAAGAAGAAGA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	15/17			chr3	TogoVar
ERCC6_chr10_49449470_49544121	49526091	TTATATAT others(35): Show TTATATATTTATATATTTATATATTTTTATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0343 a0002c0002t0006g0343	1	388	0.0026	-42	c.653 others(59): Show c.653-1356_653-1315delTATATATATATATATAAAAATATATAAA TATATAAATATATA	ERCC6	ENSG00000225830.16	transcript	ENST00000355832.10	protein_coding	4/20			chr10	TogoVar
ERCC6_chr10_49510198_49544121	49526091	TTATATAT others(35): Show TTATATATTTATATATTTATATATTTTTATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0220 a0002c0002t0004g0220	1	402	0.0025	-42	c.653 others(59): Show c.653-1356_653-1315delTATATATATATATATAAAAATATATAAA TATATAAATATATA	ERCC6	ENSG00000225830.16	transcript	ENST00000447839.7	protein_coding	4/5			chr10	TogoVar
ERFL_chr19_41902704_41933449	41914796	TGTCTCTC others(35): Show TGTCTCTCCCTCCCCCTCCACCGTGTCTCCCCCCCTTTCCACC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02055.hp2 NA18964.hp1 others(1): Show HG00544.hp1 HG02055.hp2 NA18964.hp1 NA19004.hp2	a0000 a0001 a0000 a0001	a0000c0003 a0001c0001 a0001c0002 a0000c0003 a0001c0001 a0001c0002	a0000c0003t0003 a0001c0001t0001 a0001c0002t0002 a0000c0003t0003 a0001c0001t0001 a0001c0002t0002	a0000c0003t0003g0248 a0001c0001t0001g0103 a0001c0001t0001g0195 others(1): Show a0000c0003t0003g0248 a0001c0001t0001g0103 a0001c0001t0001g0195 a0001c0002t0002g0121	4	330	0.0121	-42	c.-13 others(59): Show c.-13-1906_-13-1865delGGTGGAAAGGGGGGGAGACACGGTGGAG GGGGAGGGAGAGAC	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar
ERICH1_chr8_659200_736224	679828	GCAGCTGC others(35): Show GCAGCTGCCACCCCTGTGAACACAGAAGATGCAAGAGAATCCA	G G	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02258.hp2 HG02280.hp2 others(6): Show HG01099.hp1 HG02258.hp2 HG02280.hp2 HG02897.hp2 HG03098.hp1 HG03195.hp2 HG03471.hp2 HG03490.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0002c0005t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0005t0001 a0002c0005t0002	a0001c0001t0001g0158 a0001c0001t0002g0315 a0001c0001t0002g0316 others(6): Show a0001c0001t0001g0158 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0330 a0002c0005t0001g0235 a0002c0005t0001g0236 a0002c0005t0001g0237 a0002c0005t0002g0284	9	378	0.0238	-42	c.305 others(59): Show c.305-5823_305-5782delTGGATTCTCTTGCATCTTCTGTGTTCAC AGGGGTGGCAGCTG	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	680081	CAGCTGCC others(35): Show CAGCTGCCACCCCTGTGAACACAGAAAGTCCAAGAGAATCCAT	C C	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	378	0.0027	-42	c.305 others(59): Show c.305-6076_305-6035delATGGATTCTCTTGGACTTTCTGTGTTCA CAGGGGTGGCAGCT	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	680249	TAGCTGCC others(35): Show TAGCTGCCACCCCTGTGAACACAGAAGATGCAAGAGAATCCAC	T T	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	378	0.0027	-42	c.305 others(59): Show c.305-6244_305-6203delGTGGATTCTCTTGCATCTTCTGTGTTCA CAGGGGTGGCAGCT	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	680583	GGAAAGTC others(35): Show GGAAAGTCCAAGAGAATCCACAGCTGCCACCCCTGTGAACACA	G G	intron_variant intron_variant	MODIFIER	HG02135.hp2 NA18943.hp2 NA18962.hp1 others(6): Show HG02135.hp2 NA18943.hp2 NA18962.hp1 NA18967.hp2 NA19003.hp1 NA19004.hp2 NA19011.hp1 NA19085.hp1 NA19088.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0299 a0001c0003t0002g0300 a0001c0003t0002g0301 others(6): Show a0001c0003t0002g0299 a0001c0003t0002g0300 a0001c0003t0002g0301 a0001c0003t0002g0302 a0001c0003t0002g0303 a0001c0003t0002g0305 a0001c0003t0002g0319 a0001c0003t0002g0320 a0001c0003t0002g0321	9	378	0.0238	-42	c.305 others(59): Show c.305-6578_305-6537delTGTGTTCACAGGGGTGGCAGCTGTGGAT TCTCTTGGACTTTC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH5_chr8_98059568_98098609	98073432	CTATATAT others(35): Show CTATATATATATATATATATATATATATGTATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02056.hp2 NA18941.hp2 others(2): Show HG00438.hp2 HG02056.hp2 NA18941.hp2 NA18949.hp2 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0104 others(2): Show a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0104 a0001c0001t0001g0242 a0001c0001t0002g0263	5	442	0.0113	-42	c.58+ others(57): Show c.58+8717_58+8758delATATATATATATATATGTATATATATATAT ATATATATATAT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERICH5_chr8_98059568_98098609	98073474	ATATATAT others(35): Show ATATATATATATGTATATATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG03540.hp2 NA18961.hp1 HG01975.hp2 HG03540.hp2 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0254 a0001c0001t0001g0360 a0001c0001t0002g0230 a0001c0001t0001g0254 a0001c0001t0001g0360 a0001c0001t0002g0230	3	442	0.0068	-42	c.58+ others(57): Show c.58+8759_58+8800delGTATATATATATATATATATATATATATAT GTATATATATAT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
ESPNL_chr2_238095340_238138287	238098559	GCATAGGA others(35): Show GCATAGGACTGCCCACATGGGACCGCCCACATAGGACCGCCCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG02486.hp2 others(1): Show HG01070.hp2 HG01071.hp2 HG02486.hp2 HG03195.hp2	a0001 a0004 a0001 a0004	a0001c0012 a0004c0003 a0001c0012 a0004c0003	a0001c0012t0003 a0004c0003t0005 a0001c0012t0003 a0004c0003t0005	a0001c0012t0003g0017 a0004c0003t0005g0040 a0001c0012t0003g0017 a0004c0003t0005g0040	4	408	0.0098	-42	c.-18 others(53): Show c.-1860_-1819delCATAGGACTGCCCACATGGGACCGCCCACATAGG ACCGCCCA	ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding		1780		chr2	TogoVar
ESPNL_chr2_238095340_238138287	238098591	AGGACCGC others(35): Show AGGACCGCCCACATAGGACCGCCCACATGGGACCGCCCACATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0002 a0002	a0002c0020 a0002c0020	a0002c0020t0002 a0002c0020t0002	a0002c0020t0002g0284 a0002c0020t0002g0284	1	408	0.0025	-42	c.-18 others(53): Show c.-1828_-1787delGGACCGCCCACATAGGACCGCCCACATGGGACCG CCCACATG	ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding		1748		chr2	TogoVar
ESPNL_chr2_238095340_238138287	238119052	AATGGAAG others(35): Show AATGGAAGAGGATGGATGGAAGAGGGTGAATGGAGGAGAGTGG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG00423.hp2 others(74): Show HG00140.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp2 HG00621.hp2 HG00733.hp2 HG01081.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01496.hp2 HG01978.hp2 HG02083.hp1 HG02109.hp2 HG02145.hp2 HG02148.hp1 HG02165.hp1 HG02293.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02717.hp1 HG02717.hp2 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03471.hp2 HG03490.hp2 HG03540.hp1 HG03540.hp2 HG03710.hp2 HG04184.hp2 HG06807.hp1 NA18612.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18947.hp2 NA18949.hp1 NA18951.hp2 NA18954.hp1 NA18960.hp1 NA18966.hp1 NA18967.hp2 NA18977.hp2 NA18985.hp1 NA18998.hp1 NA18999.hp2 NA19000.hp2 NA19007.hp1 NA19009.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19068.hp2 NA19074.hp1 NA19079.hp1 NA19083.hp1 NA19083.hp2 NA19086.hp2 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA20805.hp1 NA20905.hp2	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0015 a0025 a0026 a0032 a0034 a0039 a0042 a0043 a0045	a0001c0012 a0001c0016 a0001c0018 others(32): Show a0001c0012 a0001c0016 a0001c0018 a0001c0048 a0001c0101 a0002c0031 a0002c0058 a0002c0081 a0002c0098 a0002c0103 a0002c0118 a0003c0009 a0003c0024 a0003c0044 a0003c0082 a0003c0097 a0003c0119 a0004c0083 a0004c0104 a0005c0027 a0005c0102 a0006c0045 a0006c0047 a0007c0100 a0009c0025 a0015c0120 a0015c0131 a0025c0075 a0026c0129 a0032c0106 a0034c0099 a0039c0105 a0042c0084 a0043c0080 a0045c0095	a0001c0012t0003 a0001c0012t0006 a0001c0016t0004 others(40): Show a0001c0012t0003 a0001c0012t0006 a0001c0016t0004 a0001c0018t0001 a0001c0018t0003 a0001c0018t0006 a0001c0018t0016 a0001c0048t0004 a0001c0101t0016 a0002c0031t0002 a0002c0031t0007 a0002c0058t0005 a0002c0081t0005 a0002c0098t0002 a0002c0103t0002 a0002c0118t0007 a0003c0009t0006 a0003c0009t0021 a0003c0024t0001 a0003c0024t0028 a0003c0044t0006 a0003c0082t0006 a0003c0097t0017 a0003c0119t0012 a0004c0083t0005 a0004c0104t0005 a0005c0027t0001 a0005c0027t0022 a0005c0102t0001 a0006c0045t0003 a0006c0047t0003 a0007c0100t0003 a0009c0025t0002 a0015c0120t0003 a0015c0131t0003 a0025c0075t0011 a0026c0129t0002 a0032c0106t0001 a0034c0099t0003 a0039c0105t0026 a0042c0084t0007 a0043c0080t0006 a0045c0095t0006	a0001c0012t0003g0017 a0001c0012t0003g0045 a0001c0012t0003g0046 others(70): Show a0001c0012t0003g0017 a0001c0012t0003g0045 a0001c0012t0003g0046 a0001c0012t0003g0048 a0001c0012t0003g0049 a0001c0012t0006g0023 a0001c0012t0006g0079 a0001c0016t0004g0022 a0001c0016t0004g0081 a0001c0018t0001g0041 a0001c0018t0001g0216 a0001c0018t0003g0035 a0001c0018t0003g0233 a0001c0018t0003g0266 a0001c0018t0006g0258 a0001c0018t0016g0215 a0001c0048t0004g0269 a0001c0048t0004g0273 a0001c0101t0016g0016 a0002c0031t0002g0262 a0002c0031t0002g0272 a0002c0031t0002g0279 a0002c0031t0007g0161 a0002c0058t0005g0321 a0002c0081t0005g0023 a0002c0098t0002g0254 a0002c0103t0002g0271 a0002c0118t0007g0153 a0003c0009t0006g0006 a0003c0009t0006g0056 a0003c0009t0006g0057 a0003c0009t0006g0058 a0003c0009t0006g0059 a0003c0009t0006g0060 a0003c0009t0006g0062 a0003c0009t0021g0077 a0003c0024t0001g0227 a0003c0024t0001g0259 a0003c0024t0001g0268 a0003c0024t0001g0281 a0003c0024t0028g0267 a0003c0044t0006g0078 a0003c0044t0006g0084 a0003c0082t0006g0083 a0003c0097t0017g0270 a0003c0119t0012g0160 a0004c0083t0005g0019 a0004c0104t0005g0264 a0005c0027t0001g0006 a0005c0027t0001g0018 a0005c0027t0001g0047 a0005c0027t0001g0082 a0005c0027t0022g0018 a0005c0102t0001g0226 a0006c0045t0003g0204 a0006c0045t0003g0205 a0006c0047t0003g0035 a0006c0047t0003g0261 a0007c0100t0003g0225 a0009c0025t0002g0016 a0009c0025t0002g0034 a0009c0025t0002g0260 a0009c0025t0002g0263 a0015c0120t0003g0165 a0015c0131t0003g0164 a0025c0075t0011g0200 a0026c0129t0002g0034 a0032c0106t0001g0231 a0034c0099t0003g0265 a0039c0105t0026g0256 a0042c0084t0007g0044 a0043c0080t0006g0019 a0045c0095t0006g0196	77	408	0.1887	-42	c.987 others(59): Show c.987+2038_987+2079delAGAGGGTGAATGGAGGAGAGTGGATGGA AGAGGATGGATGGA	ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ESYT2_chr7_158725997_158834509	158757523	AGCCAAAG others(35): Show AGCCAAAGGATCCCAGAGCTCGCGGGACGCCCCTTAATCCAGC	A A	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02965.hp2 HG03098.hp2 others(1): Show HG02135.hp2 HG02965.hp2 HG03098.hp2 HG03225.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0010 others(1): Show a0001c0001 a0001c0006 a0002c0010 a0002c0022	a0001c0001t0001 a0001c0006t0001 a0002c0010t0006 others(1): Show a0001c0001t0001 a0001c0006t0001 a0002c0010t0006 a0002c0022t0022	a0001c0001t0001g0180 a0001c0006t0001g0138 a0002c0010t0006g0178 others(1): Show a0001c0001t0001g0180 a0001c0006t0001g0138 a0002c0010t0006g0178 a0002c0022t0022g0179	4	370	0.0108	-42	c.141 others(61): Show c.1419+1921_1419+1962delGCTGGATTAAGGGGCGTCCCGCGAGC TCTGGGATCCTTTGGC	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	13/22			chr7	TogoVar
ESYT2_chr7_158725997_158834509	158814305	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(137): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00597.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01891.hp1 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02055.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp2 HG02129.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02165.hp2 HG02273.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02683.hp2 HG02717.hp1 HG02976.hp1 HG03209.hp1 HG03453.hp2 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03540.hp1 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18941.hp1 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18953.hp1 NA18959.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18972.hp2 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18981.hp2 NA18984.hp1 NA18986.hp1 NA18989.hp2 NA18992.hp2 NA18993.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19012.hp2 NA19043.hp2 NA19055.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp2 NA19063.hp1 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp2 NA19080.hp1 NA19082.hp1 NA19085.hp2 NA19088.hp2 NA19090.hp2 NA20300.hp1 NA20805.hp2 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0007	a0001c0001 a0001c0006 a0001c0007 others(5): Show a0001c0001 a0001c0006 a0001c0007 a0001c0011 a0002c0002 a0003c0016 a0005c0012 a0007c0025	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0013 a0001c0001t0024 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0031 a0001c0001t0043 a0001c0006t0001 a0001c0007t0001 a0001c0007t0036 a0001c0011t0001 a0002c0002t0042 a0003c0016t0004 a0005c0012t0001 a0007c0025t0001	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(135): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0171 a0001c0001t0001g0195 a0001c0001t0001g0366 a0001c0001t0001g0367 a0001c0001t0002g0001 a0001c0001t0002g0052 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0131 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0010g0043 a0001c0001t0010g0047 a0001c0001t0013g0114 a0001c0001t0013g0134 a0001c0001t0024g0112 a0001c0001t0027g0064 a0001c0001t0028g0095 a0001c0001t0029g0094 a0001c0001t0031g0019 a0001c0001t0043g0129 a0001c0006t0001g0138 a0001c0007t0001g0029 a0001c0007t0001g0035 a0001c0007t0001g0175 a0001c0007t0001g0176 a0001c0007t0036g0032 a0001c0011t0001g0102 a0001c0011t0001g0139 a0001c0011t0001g0140 a0002c0002t0042g0027 a0003c0016t0004g0078 a0005c0012t0001g0005 a0005c0012t0001g0006 a0007c0025t0001g0041	140	370	0.3784	-42	c.330 others(61): Show c.330+14742_330+14783delCATATATATATATATATATATATATA TATATATATATATATA	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	1/22			chr7	TogoVar
ETS1_chr11_128453765_128592558	128584990	GGAAGGAA others(35): Show GGAAGGAAGGAAGGAAAGAAAGGAAAGAAAGAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0160 a0001c0001t0020g0160	1	286	0.0035	-42	c.-15 others(59): Show c.-15+2456_-15+2497delTCTTTCTTTCTTCTTTCTTTCCTTTCTT TCCTTCCTTCCTTC	ETS1	ENSG00000134954.14	transcript	ENST00000392668.8	protein_coding	1/9			chr11	TogoVar
ETV3L_chr1_157087043_157104808	157096059	TCTCTGTT others(35): Show TCTCTGTTCCAGGGCCATTGCATGCACTATTCTCTCGCTCGCC	T T	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18998.hp2 NA18964.hp2 NA18998.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0002 a0003c0007t0002	a0003c0007t0002g0079 a0003c0007t0002g0086 a0003c0007t0002g0079 a0003c0007t0002g0086	2	464	0.0043	-42	c.607 others(59): Show c.607+1767_607+1808delGGCGAGCGAGAGAATAGTGCATGCAATG GCCCTGGAACAGAG	ETV3L	ENSG00000253831.3	transcript	ENST00000454449.3	protein_coding	4/4			chr1	TogoVar
EXOC2_chr6_480154_698139	601450	CCACACAC others(35): Show CCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCA	C C	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA19007.hp2 NA19012.hp1 NA18954.hp2 NA19007.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0006 a0001c0002t0004 a0001c0001t0003 a0001c0001t0006 a0001c0002t0004	a0001c0001t0003g0246 a0001c0001t0006g0033 a0001c0002t0004g0250 a0001c0001t0003g0246 a0001c0001t0006g0033 a0001c0002t0004g0250	3	272	0.0110	-42	c.743 others(59): Show c.743-2267_743-2226delTGGATTCGCACACGGGGTGTTCTTGGTG TGAGAATGTGTGTG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	7/27			chr6	TogoVar
EXOC2_chr6_480154_698139	601850	CCACACAC others(35): Show CCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCA	C C	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0183 a0001c0001t0002g0183	1	272	0.0037	-42	c.743 others(59): Show c.743-2667_743-2626delTGGATTCGCACACGGGGTGTTCTTGGTG TGAGAATGTGTGTG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	7/27			chr6	TogoVar
EXOC2_chr6_480154_698139	601930	CCACACAC others(35): Show CCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0097 a0002c0005t0002g0097	1	272	0.0037	-42	c.743 others(59): Show c.743-2747_743-2706delTGGATTCGCACACGGGGTGTTCTTGGTG TGAGAATGTGTGTG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	7/27			chr6	TogoVar
EXOC2_chr6_480154_698139	602170	CCACACAC others(35): Show CCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCA	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0171 a0001c0007t0003g0171	1	272	0.0037	-42	c.743 others(59): Show c.743-2987_743-2946delTGGATTCGCACACGGGGTGTTCTTGGTG TGAGAATGTGTGTG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	7/27			chr6	TogoVar
EXOC4_chr7_133248078_134070761	133787955	TTATATAT others(35): Show TTATATATTTATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01261.hp2 HG02055.hp2 others(2): Show HG00639.hp1 HG01261.hp2 HG02055.hp2 HG02717.hp1 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0003 a0001c0005t0007 a0001c0005t0011 others(1): Show a0001c0001t0003 a0001c0005t0007 a0001c0005t0011 a0001c0005t0012	a0001c0001t0003g0004 a0001c0001t0003g0070 a0001c0005t0007g0025 others(2): Show a0001c0001t0003g0004 a0001c0001t0003g0070 a0001c0005t0007g0025 a0001c0005t0011g0043 a0001c0005t0012g0024	5	102	0.0490	-42	c.151 others(63): Show c.1515-29362_1515-29321delTTATATATATATATATATATATAT ATATATATATATATATAT	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC4_chr7_133248078_134070761	133823870	TATTATAT others(35): Show TATTATATATATATATATATATATTTTATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01255.hp1 HG02027.hp2 others(7): Show HG01192.hp2 HG01255.hp1 HG02027.hp2 HG02055.hp2 HG02071.hp2 HG02080.hp2 HG02280.hp2 HG02976.hp1 HG03540.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0019 a0001c0002t0006 a0001c0004t0001 a0001c0004t0004 a0001c0005t0012 a0001c0006t0010	a0001c0001t0001g0027 a0001c0001t0002g0003 a0001c0001t0003g0055 others(7): Show a0001c0001t0001g0027 a0001c0001t0002g0003 a0001c0001t0003g0055 a0001c0001t0009g0001 a0001c0001t0019g0085 a0001c0002t0006g0065 a0001c0004t0001g0067 a0001c0004t0004g0037 a0001c0005t0012g0024 a0001c0006t0010g0084	10	102	0.0980	-42	c.173 others(61): Show c.1734+6329_1734+6370delTATATATATATATATATATATTTTAT ATATATATATATAAAT	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC4_chr7_133248078_134070761	133857283	ATATATAT others(35): Show ATATATATATATATACACGTATATATATATATATATATACACG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0011 a0001c0005t0011	a0001c0005t0011g0043 a0001c0005t0011g0043	1	102	0.0098	-42	c.173 others(63): Show c.1735-38301_1735-38260delCACGTATATATATATATATATATA CACGTATATATATATATA	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC4_chr7_133248078_134070761	133857301	GTATATAT others(35): Show GTATATATATATATATATATACACGTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0088 a0001c0004t0001g0088	1	102	0.0098	-42	c.173 others(63): Show c.1735-38277_1735-38236delCACGTATATATATATATATATATA TATATATATATATATATA	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOG_chr3_38491340_38531303	38492731	TACACACA others(35): Show TACACACACACACACACACACACACACACACACACACACACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01515.hp1 others(2): Show HG01168.hp1 HG01169.hp1 HG01515.hp1 HG01517.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0049 a0001c0001t0001g0169 a0001c0001t0002g0036 a0001c0001t0001g0049 a0001c0001t0001g0169 a0001c0001t0002g0036	5	412	0.0121	-42	c.-36 others(53): Show c.-3636_-3595delACACACACACACACACACACACACACACACACAC ACACACAC	EXOG	ENSG00000157036.13	transcript	ENST00000287675.10	protein_coding		3608		chr3	TogoVar
EXPH5_chr11_108500435_108598768	108586618	TCTTTCCT others(35): Show TCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTCCCCCATCCC	T T	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03516.hp2 HG03209.hp1 HG03516.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0010c0008 a0001c0001 a0010c0008	a0001c0001t0051 a0010c0008t0006 a0001c0001t0051 a0010c0008t0006	a0001c0001t0051g0119 a0010c0008t0006g0118 a0001c0001t0051g0119 a0010c0008t0006g0118	2	314	0.0064	-42	c.119 others(59): Show c.119+6758_119+6799delGGGATGGGGGAGGGAGGAAAGGGGATGG GGGAGGGAGGAAAG	EXPH5	ENSG00000110723.12	transcript	ENST00000265843.9	protein_coding	1/5			chr11	TogoVar
EYA2_chr20_46889843_47193844	46987944	CTCTCTCT others(35): Show CTCTCTCTCTCTCTCTCTCTCTATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0002 a0005c0006t0002	a0005c0006t0002g0167 a0005c0006t0002g0167	1	238	0.0042	-42	c.-10 others(59): Show c.-10-2055_-10-2014delCTCTCTCTCTCTCTCTCTCTATATATAT ATATATATATATAT	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EZR_chr6_158760748_158824368	158803540	TATATGTA others(35): Show TATATGTATATATATATATATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01975.hp2 HG01978.hp2 others(9): Show HG00639.hp1 HG01975.hp2 HG01978.hp2 HG02040.hp1 HG02074.hp2 HG02280.hp1 HG02602.hp2 HG02683.hp1 HG02698.hp2 HG03491.hp2 HG03492.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0052 a0001c0001t0001g0074 a0001c0001t0001g0075 others(9): Show a0001c0001t0001g0052 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0114 a0001c0001t0001g0120 a0001c0001t0005g0028	12	312	0.0385	-42	c.13- others(59): Show c.13-14211_13-14170delGTATATATATATATATATATATATATAT ATATATATACATAT	EZR	ENSG00000092820.19	transcript	ENST00000367075.4	protein_coding	2/13			chr6	TogoVar
EZR_chr6_158760748_158824368	158803582	CATATATA others(35): Show CATATATATATATATATATATATACATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02083.hp1 HG02135.hp1 others(5): Show HG02071.hp2 HG02083.hp1 HG02135.hp1 HG02559.hp2 HG02622.hp1 HG02717.hp1 HG06807.hp2 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0003t0003 a0001c0001t0001 a0001c0001t0003 a0001c0003t0003	a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0106 others(5): Show a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0106 a0001c0001t0001g0129 a0001c0001t0001g0270 a0001c0001t0003g0014 a0001c0001t0003g0025 a0001c0003t0003g0036	8	312	0.0256	-42	c.13- others(59): Show c.13-14253_13-14212delATATATATATATATATATGTATATATAT ATATATATATATAT	EZR	ENSG00000092820.19	transcript	ENST00000367075.4	protein_coding	2/13			chr6	TogoVar
EZR_chr6_158760748_158824368	158803594	TATATATA others(35): Show TATATATATATACATATATATATATATATATACATATACATAC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03225.hp1 HG01891.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0016 a0001c0001t0008g0017 a0001c0001t0008g0016 a0001c0001t0008g0017	2	312	0.0064	-42	c.13- others(59): Show c.13-14265_13-14224delGTATGTATATGTATATATATATATATAT ATGTATATATATAT	EZR	ENSG00000092820.19	transcript	ENST00000367075.4	protein_coding	2/13			chr6	TogoVar
F13A1_chr6_6139084_6325662	6316078	CATATATA others(35): Show CATATATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02895.hp1 HG02970.hp1 others(5): Show HG02257.hp2 HG02895.hp1 HG02970.hp1 HG02976.hp1 HG03579.hp2 NA18522.hp1 NA18982.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0007	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0004c0011 a0007c0007	a0001c0001t0002 a0001c0001t0004 a0002c0002t0004 others(4): Show a0001c0001t0002 a0001c0001t0004 a0002c0002t0004 a0003c0003t0001 a0004c0004t0006 a0004c0011t0003 a0007c0007t0002	a0001c0001t0002g0083 a0001c0001t0004g0078 a0001c0001t0004g0082 others(5): Show a0001c0001t0002g0083 a0001c0001t0004g0078 a0001c0001t0004g0082 a0002c0002t0004g0081 a0003c0003t0001g0185 a0004c0004t0006g0080 a0004c0011t0003g0079 a0007c0007t0002g0217	8	292	0.0274	-42	c.130 others(59): Show c.130+2415_130+2456delATATATATATATATATATATATATATAT ATATATATATATAT	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	2/14			chr6	TogoVar
FAAP100_chr17_81534891_81557353	81535626	TCCACCAT others(35): Show TCCACCATCCCCATTACCATCTCCACCATCCCCATCTCCATCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0240 a0002c0002t0003g0240	1	436	0.0023	-42	c.51 others(53): Show c.5151_*5192delGGATGGAGATGGGGATGGTGGAGATGGTAATGGG GATGGTGG	FAAP100	ENSG00000185504.17	transcript	ENST00000327787.13	protein_coding		4264		chr17	TogoVar
FAF2_chr5_176443385_176515074	176451856	ACACATAT others(35): Show ACACATATATATATACACACATATATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03834.hp2 NA18942.hp1 NA18986.hp2 HG03834.hp2 NA18942.hp1 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0092 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0092	3	372	0.0081	-42	c.63+ others(57): Show c.63+3387_63+3428delCACATATATATATACACACATATATATATA TATATATTTTTT	FAF2	ENSG00000113194.13	transcript	ENST00000261942.7	protein_coding	1/10			chr5	TogoVar
FAM114A1_chr4_38862806_38950739	38868144	TGCGTGAA others(35): Show TGCGTGAACCTCCGCGGAGCCTGCCTGGATCTCCCAAAGTATC	T T	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0026 a0002c0026	a0002c0026t0005 a0002c0026t0005	a0002c0026t0005g0039 a0002c0026t0005g0039	1	372	0.0027	-42	c.-15 others(59): Show c.-157-253_-157-212delGCGTGAACCTCCGCGGAGCCTGCCTGGA TCTCCCAAAGTATC	FAM114A1	ENSG00000197712.12	transcript	ENST00000358869.5	protein_coding	1/14			chr4	TogoVar
FAM151B_chr5_80483100_80547563	80538445	TTTCTCTT others(35): Show TTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0355 a0001c0001t0001g0355	1	356	0.0028	-42	c.672 others(59): Show c.672-3224_672-3183delTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCCTTC	FAM151B	ENSG00000152380.10	transcript	ENST00000282226.5	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
FAM161A_chr2_61819848_61859060	61848886	TTATATAT others(35): Show TTATATATATTTATATATATATTTATATATTTATATATATTTA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01255.hp2 HG02074.hp2 others(20): Show HG00639.hp2 HG01255.hp2 HG02074.hp2 HG02647.hp2 HG02723.hp2 HG02895.hp2 HG02896.hp1 HG03098.hp1 HG03209.hp1 HG03471.hp1 HG03491.hp2 HG03492.hp1 HG03669.hp1 HG03704.hp2 HG03927.hp2 HG04199.hp1 NA18522.hp2 NA18949.hp1 NA18970.hp2 NA18997.hp2 NA19080.hp1 NA19240.hp1 NA20129.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0008 a0001c0001 a0002c0002 a0006c0008	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0006c0008t0002	a0001c0001t0001g0114 a0001c0001t0002g0011 a0001c0001t0002g0229 others(14): Show a0001c0001t0001g0114 a0001c0001t0002g0011 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0234 a0001c0001t0002g0253 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0232 a0002c0002t0002g0233 a0002c0002t0002g0235 a0002c0002t0002g0236 a0002c0002t0002g0272 a0006c0008t0002g0217 a0006c0008t0002g0251	23	400	0.0575	-42	c.183 others(59): Show c.183+4931_183+4972delTAAATATATATAAATATATAAATATATA TATAAATATATATA	FAM161A	ENSG00000170264.13	transcript	ENST00000404929.6	protein_coding	1/6			chr2	TogoVar

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