Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
ELMO3_chr16_67194131_67209004	67198446	GCAGTGTC others(16): Show GCAGTGTCTTGTTCCTGCCAGCCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	326	0.0031	-23	c.-88 others(32): Show c.-880_-858delCAGTGTCTTGTTCCTGCCAGCCT	ELMO3	ENSG00000102890.16	transcript	ENST00000393997.8	protein_coding		684		chr16	TogoVar
ELOA_chr1_23738471_23767059	23765206	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp1 NA18989.hp1 NA18989.hp2 NA18952.hp1 NA18989.hp1 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0144 a0001c0002t0001g0010 a0001c0002t0001g0166 a0001c0001t0001g0144 a0001c0002t0001g0010 a0001c0002t0001g0166	3	9	0.3333	-23	c.56 others(34): Show c.5634_*5656delTTTTTTTTTTTTTTTTTTTTTTT	ELOA	ENSG00000011007.13	transcript	ENST00000613537.5	protein_coding		3148		chr1	TogoVar
ELOVL2_chr6_10975759_11049305	10992747	CACTGCAC others(16): Show CACTGCACTCCAGCCTGGCGACAG	C C	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0194 a0001c0001t0005g0194	1	378	0.0026	-23	c.505 others(40): Show c.505+2237_505+2259delCTGTCGCCAGGCTGGAGTGCAGT	ELOVL2	ENSG00000197977.4	transcript	ENST00000354666.4	protein_coding	5/7			chr6	TogoVar
ELOVL5_chr6_53262404_53353950	53319270	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0301 a0001c0001t0006g0301	1	10	0.1000	-23	c.-8- others(40): Show c.-8-23586_-8-23564delTTTTTTTTTTTTTTTTTTTTTTT	ELOVL5	ENSG00000012660.14	transcript	ENST00000304434.11	protein_coding	1/7			chr6	TogoVar
ELOVL6_chr4_110040846_110203615	110084391	TATGATAT others(16): Show TATGATATATGATATATGACATAC	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0334 a0001c0001t0002g0334	1	316	0.0032	-23	c.221 others(42): Show c.221+21083_221+21105delGTATGTCATATATCATATATCAT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELP4_chr11_31504767_31795324	31794404	AACACACA others(16): Show AACACACACACACACACCACACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0224 a0001c0001t0025g0224	1	263	0.0038	-23	c.10 others(36): Show c.10881_*10903delACACACACACACACACCACACAC	ELP4	ENSG00000109911.19	transcript	ENST00000640961.2	protein_coding		4081		chr11	TogoVar
EML5_chr14_88607431_88797953	88762141	CTCTGATG others(16): Show CTCTGATGATAGTTTATAAATGTA	C C	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0196 a0001c0001t0036g0196	1	330	0.0030	-23	c.198 others(40): Show c.198-7493_198-7471delTACATTTATAAACTATCATCAGA	EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding	1/43			chr14	TogoVar
EML5_chr14_88607431_88797953	88796602	ATATATGT others(16): Show ATATATGTTATACATATTATATGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0070 a0001c0001t0007g0070	1	328	0.0030	-23	c.-41 others(34): Show c.-4122_-4100delACATATAATATGTATAACATATA	EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding		3650		chr14	TogoVar
EML5_chr14_88607431_88797953	88796967	ATATATAT others(16): Show ATATATATTATATGTTATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp2 HG01952.hp1 HG01928.hp2 HG01952.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0003 a0001c0001t0002 a0002c0002t0003	a0001c0001t0002g0117 a0002c0002t0003g0026 a0001c0001t0002g0117 a0002c0002t0003g0026	2	330	0.0061	-23	c.-44 others(34): Show c.-4487_-4465delATATATATAACATATAATATATA	EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding		4015		chr14	TogoVar
EMP3_chr19_48320552_48335553	48321902	CGACCAAC others(16): Show CGACCAACGGCTTCCCGGGAAGCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	374	0.0027	-23	c.-37 others(34): Show c.-3723_-3701delGACCAACGGCTTCCCGGGAAGCA	EMP3	ENSG00000142227.11	transcript	ENST00000270221.11	protein_coding		3649		chr19	TogoVar
EMSY_chr11_76440018_76558031	76494654	CCTTCCTT others(16): Show CCTTCCTTCCTTCCTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01070.hp1 HG01261.hp1 others(5): Show HG00438.hp1 HG01070.hp1 HG01261.hp1 HG01433.hp2 HG03130.hp2 HG04199.hp2 NA18984.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0010 a0001c0002t0001 a0001c0002t0010	a0001c0002t0001g0014 a0001c0002t0001g0018 a0001c0002t0001g0021 others(5): Show a0001c0002t0001g0014 a0001c0002t0001g0018 a0001c0002t0001g0021 a0001c0002t0001g0023 a0001c0002t0001g0038 a0001c0002t0001g0047 a0001c0002t0001g0058 a0001c0002t0010g0040	8	300	0.0267	-23	c.115 others(42): Show c.1154-1559_1154-1537delTTCCTTCCTTCCTTCCTTCCTTC	EMSY	ENSG00000158636.17	transcript	ENST00000695367.1	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
ENOX1_chr13_43208130_43791972	43247850	TATATATA others(16): Show TATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0091 a0001c0001t0026g0091	1	185	0.0054	-23	c.161 others(44): Show c.1612-11135_1612-11113delTATATATATATATATATATATAT	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	14/16			chr13	TogoVar
ENOX1_chr13_43208130_43791972	43247852	TATATATA others(16): Show TATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA18973.hp1 NA19004.hp2 others(1): Show HG02280.hp1 NA18973.hp1 NA19004.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0001 a0001c0002t0006 a0001c0001t0004 a0001c0002t0001 a0001c0002t0006	a0001c0001t0004g0124 a0001c0002t0001g0053 a0001c0002t0006g0143 others(1): Show a0001c0001t0004g0124 a0001c0002t0001g0053 a0001c0002t0006g0143 a0001c0002t0006g0181	4	182	0.0220	-23	c.161 others(44): Show c.1612-11137_1612-11115delTATATATATATATATATATATAT	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	14/16			chr13	TogoVar
ENOX1_chr13_43208130_43791972	43380350	TGATATAT others(16): Show TGATATATATAGAAGTAAAATATA	T T	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02109.hp1 HG02145.hp2 others(3): Show HG01074.hp2 HG02109.hp1 HG02145.hp2 HG02717.hp1 HG02965.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0001 a0001c0002t0016 a0001c0001t0005 a0001c0002t0001 a0001c0002t0016	a0001c0001t0005g0168 a0001c0001t0005g0170 a0001c0001t0005g0172 others(3): Show a0001c0001t0005g0168 a0001c0001t0005g0170 a0001c0001t0005g0172 a0001c0001t0005g0173 a0001c0002t0001g0094 a0001c0002t0016g0018	6	186	0.0323	-23	c.209 others(42): Show c.209-18921_209-18899delTATATTTTACTTCTATATATATC	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	5/16			chr13	TogoVar
ENOX1_chr13_43208130_43791972	43790583	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0096 a0001c0002t0001g0096	1	41	0.0244	-23	c.-42 others(34): Show c.-4239_-4217delTTTTTTTTTTTTTTTTTTTTTTT	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding		3612		chr13	TogoVar
ENPP6_chr4_184083706_184222873	184220398	AGATGGGA others(16): Show AGATGGGAAGAAGGGAAAGGGAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00323.hp2 others(121): Show HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01346.hp1 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02155.hp2 HG02273.hp1 HG02280.hp1 HG02300.hp2 HG02630.hp2 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG03017.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp2 HG03209.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG03579.hp2 HG03834.hp2 HG04199.hp1 NA18612.hp1 NA18939.hp1 NA18939.hp2 NA18946.hp1 NA18946.hp2 NA18949.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18965.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA19002.hp1 NA19003.hp1 NA19004.hp2 NA19006.hp1 NA19007.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0006	a0001c0002 a0001c0003 a0001c0005 others(6): Show a0001c0002 a0001c0003 a0001c0005 a0001c0012 a0002c0001 a0002c0013 a0004c0006 a0005c0015 a0006c0008	a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 others(20): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0007 a0001c0002t0008 a0001c0002t0013 a0001c0002t0017 a0001c0002t0021 a0001c0003t0003 a0001c0003t0012 a0001c0003t0015 a0001c0005t0002 a0001c0012t0003 a0002c0001t0001 a0002c0001t0002 a0002c0001t0005 a0002c0001t0010 a0002c0001t0018 a0002c0001t0019 a0002c0013t0001 a0004c0006t0012 a0005c0015t0002 a0006c0008t0001	a0001c0002t0001g0076 a0001c0002t0001g0129 a0001c0002t0001g0152 others(121): Show a0001c0002t0001g0076 a0001c0002t0001g0129 a0001c0002t0001g0152 a0001c0002t0001g0160 a0001c0002t0001g0179 a0001c0002t0001g0185 a0001c0002t0001g0224 a0001c0002t0002g0084 a0001c0002t0002g0145 a0001c0002t0002g0146 a0001c0002t0002g0147 a0001c0002t0002g0154 a0001c0002t0002g0156 a0001c0002t0002g0158 a0001c0002t0002g0159 a0001c0002t0002g0161 a0001c0002t0002g0162 a0001c0002t0002g0163 a0001c0002t0002g0164 a0001c0002t0002g0165 a0001c0002t0002g0167 a0001c0002t0002g0169 a0001c0002t0002g0171 a0001c0002t0002g0173 a0001c0002t0002g0174 a0001c0002t0002g0178 a0001c0002t0002g0181 a0001c0002t0002g0184 a0001c0002t0002g0186 a0001c0002t0002g0187 a0001c0002t0002g0196 a0001c0002t0002g0197 a0001c0002t0002g0198 a0001c0002t0002g0199 a0001c0002t0002g0201 a0001c0002t0002g0202 a0001c0002t0002g0203 a0001c0002t0002g0205 a0001c0002t0002g0206 a0001c0002t0002g0207 a0001c0002t0002g0208 a0001c0002t0002g0209 a0001c0002t0002g0210 a0001c0002t0002g0211 a0001c0002t0002g0214 a0001c0002t0002g0218 a0001c0002t0002g0219 a0001c0002t0002g0222 a0001c0002t0002g0223 a0001c0002t0002g0226 a0001c0002t0002g0227 a0001c0002t0002g0228 a0001c0002t0002g0231 a0001c0002t0002g0233 a0001c0002t0002g0235 a0001c0002t0004g0183 a0001c0002t0007g0130 a0001c0002t0008g0055 a0001c0002t0013g0191 a0001c0002t0017g0230 a0001c0002t0021g0148 a0001c0003t0003g0122 a0001c0003t0003g0128 a0001c0003t0003g0131 a0001c0003t0003g0134 a0001c0003t0003g0220 a0001c0003t0003g0242 a0001c0003t0003g0244 a0001c0003t0003g0308 a0001c0003t0012g0168 a0001c0003t0015g0166 a0001c0005t0002g0006 a0001c0012t0003g0127 a0002c0001t0001g0088 a0002c0001t0001g0089 a0002c0001t0001g0096 a0002c0001t0001g0110 a0002c0001t0001g0150 a0002c0001t0001g0153 a0002c0001t0001g0155 a0002c0001t0001g0157 a0002c0001t0001g0172 a0002c0001t0001g0175 a0002c0001t0001g0176 a0002c0001t0001g0188 a0002c0001t0001g0189 a0002c0001t0001g0190 a0002c0001t0001g0192 a0002c0001t0001g0193 a0002c0001t0001g0195 a0002c0001t0001g0200 a0002c0001t0001g0204 a0002c0001t0001g0215 a0002c0001t0001g0216 a0002c0001t0001g0217 a0002c0001t0001g0221 a0002c0001t0001g0225 a0002c0001t0001g0232 a0002c0001t0001g0234 a0002c0001t0001g0237 a0002c0001t0001g0238 a0002c0001t0001g0239 a0002c0001t0001g0240 a0002c0001t0001g0241 a0002c0001t0001g0243 a0002c0001t0001g0309 a0002c0001t0001g0312 a0002c0001t0001g0314 a0002c0001t0002g0097 a0002c0001t0002g0229 a0002c0001t0002g0236 a0002c0001t0005g0067 a0002c0001t0005g0149 a0002c0001t0005g0151 a0002c0001t0005g0170 a0002c0001t0005g0182 a0002c0001t0010g0177 a0002c0001t0010g0212 a0002c0001t0018g0307 a0002c0001t0019g0019 a0002c0013t0001g0180 a0004c0006t0012g0245 a0005c0015t0002g0246 a0006c0008t0001g0194	124	281	0.4413	-23	c.-26 others(34): Show c.-2602_-2580delCCTCCCTTTCCCTTCTTCCCATC	ENPP6	ENSG00000164303.11	transcript	ENST00000296741.7	protein_coding		2526		chr4	TogoVar
ENPP6_chr4_184083706_184222873	184220457	GGAAAGGG others(16): Show GGAAAGGGAGGGAAGGGAAGAAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG01069.hp2 HG01070.hp2 others(35): Show HG00438.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01167.hp1 HG01169.hp1 HG01975.hp1 HG02109.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02809.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG03098.hp1 HG03130.hp1 HG03225.hp1 HG03239.hp1 HG03491.hp2 HG03516.hp1 HG03669.hp1 HG03669.hp2 HG03927.hp2 HG04199.hp2 HG06807.hp2 NA18952.hp2 NA18961.hp2 NA18977.hp2 NA19043.hp2 NA20805.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0016 others(1): Show a0001c0002 a0001c0003 a0001c0016 a0002c0001	a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 others(9): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0007 a0001c0002t0011 a0001c0003t0003 a0001c0003t0014 a0001c0016t0023 a0002c0001t0001 a0002c0001t0005 a0002c0001t0009 a0002c0001t0022	a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0002g0082 others(34): Show a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0085 a0001c0002t0002g0094 a0001c0002t0002g0106 a0001c0002t0004g0023 a0001c0002t0004g0024 a0001c0002t0004g0133 a0001c0002t0007g0028 a0001c0002t0011g0022 a0001c0003t0003g0010 a0001c0003t0003g0011 a0001c0003t0003g0025 a0001c0003t0003g0026 a0001c0003t0003g0027 a0001c0003t0003g0135 a0001c0003t0003g0140 a0001c0003t0003g0141 a0001c0003t0014g0279 a0001c0016t0023g0315 a0002c0001t0001g0009 a0002c0001t0001g0012 a0002c0001t0001g0014 a0002c0001t0001g0021 a0002c0001t0001g0029 a0002c0001t0001g0092 a0002c0001t0001g0095 a0002c0001t0001g0104 a0002c0001t0001g0105 a0002c0001t0001g0107 a0002c0001t0001g0136 a0002c0001t0001g0137 a0002c0001t0005g0081 a0002c0001t0009g0001 a0002c0001t0022g0086	38	318	0.1195	-23	c.-26 others(34): Show c.-2661_-2639delTCTTCTTCCCTTCCCTCCCTTTC	ENPP6	ENSG00000164303.11	transcript	ENST00000296741.7	protein_coding		2585		chr4	TogoVar
ENPP7_chr17_79725943_79747219	79746195	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG01081.hp1 HG01099.hp2 others(25): Show HG00140.hp2 HG01081.hp1 HG01099.hp2 HG01256.hp2 HG01258.hp2 HG01516.hp1 HG01517.hp2 HG02559.hp2 HG02647.hp1 HG02738.hp1 HG03017.hp1 HG03195.hp2 HG03239.hp1 HG03654.hp1 HG04228.hp1 NA18943.hp1 NA18951.hp2 NA18955.hp1 NA18957.hp1 NA18971.hp1 NA18973.hp2 NA18980.hp2 NA19030.hp2 NA19068.hp2 NA19070.hp1 NA20129.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0002 a0001c0003 a0001c0019 others(3): Show a0001c0002 a0001c0003 a0001c0019 a0002c0001 a0003c0005 a0007c0016	a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 others(6): Show a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0019t0001 a0002c0001t0001 a0002c0001t0002 a0003c0005t0001 a0007c0016t0001	a0001c0002t0001g0002 a0001c0002t0001g0232 a0001c0002t0002g0077 others(18): Show a0001c0002t0001g0002 a0001c0002t0001g0232 a0001c0002t0002g0077 a0001c0003t0001g0006 a0001c0003t0001g0017 a0001c0003t0001g0020 a0001c0003t0001g0205 a0001c0003t0002g0017 a0001c0019t0001g0006 a0001c0019t0001g0246 a0002c0001t0001g0005 a0002c0001t0001g0024 a0002c0001t0001g0048 a0002c0001t0001g0117 a0002c0001t0002g0100 a0002c0001t0002g0108 a0002c0001t0002g0112 a0002c0001t0002g0183 a0003c0005t0001g0050 a0003c0005t0001g0053 a0007c0016t0001g0026	28	54	0.5185	-23	c.44 others(34): Show c.4419_*4441delAAAAAAAAAAAAAAAAAAAAAAA	ENPP7	ENSG00000182156.10	transcript	ENST00000328313.10	protein_coding		3977		chr17	TogoVar
ENTPD7_chr10_99654509_99716241	99686623	TTTCCATT others(16): Show TTTCCATTCATTGTAGGACTGCCC	T T	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0114 a0002c0002t0001g0114	1	406	0.0025	-23	c.652 others(38): Show c.652+729_652+751delTTCCATTCATTGTAGGACTGCCC	ENTPD7	ENSG00000198018.7	transcript	ENST00000370489.5	protein_coding	6/12			chr10	TogoVar
ENTREP2_chr15_29115252_29575979	29184576	TCCTCATG others(16): Show TCCTCATGGAAATCATGAAGTCCG	T T	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG06807.hp1 HG01496.hp1 HG06807.hp1	a0005 a0005	a0005c0035 a0005c0038 a0005c0035 a0005c0038	a0005c0035t0019 a0005c0038t0006 a0005c0035t0019 a0005c0038t0006	a0005c0035t0019g0011 a0005c0038t0006g0117 a0005c0035t0019g0011 a0005c0038t0006g0117	2	124	0.0161	-23	c.522 others(42): Show c.522+11831_522+11853delCGGACTTCATGATTTCCATGAGG	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	4/10			chr15	TogoVar
ENTREP2_chr15_29115252_29575979	29571044	ACCGGGCG others(16): Show ACCGGGCGCGAGCCGCTGCCGTCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03471.hp2 HG03041.hp2 HG03471.hp2	a0003 a0006 a0003 a0006	a0003c0014 a0006c0033 a0003c0014 a0006c0033	a0003c0014t0051 a0006c0033t0049 a0003c0014t0051 a0006c0033t0049	a0003c0014t0051g0124 a0006c0033t0049g0123 a0003c0014t0051g0124 a0006c0033t0049g0123	2	123	0.0163	-23	c.-34 others(32): Show c.-344_-322delGGACGGCAGCGGCTCGCGCCCGG	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding		66		chr15	TogoVar
ENTREP3_chr1_155242205_155260483	155258317	CCTTTTTT others(16): Show CCTTTTTTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	394	0.0025	-23	c.-34 others(34): Show c.-3463_-3441delAAAAAAAAAAAAAAAAAAAAAAG	ENTREP3	ENSG00000160767.23	transcript	ENST00000361361.7	protein_coding		2835		chr1	TogoVar
ENTREP3_chr1_155242205_155260483	155258318	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(212): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01099.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01257.hp2 HG01433.hp1 HG01496.hp1 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp1 HG02293.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp2 HG02717.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp1 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18964.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18991.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18999.hp2 NA19002.hp1 NA19003.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19057.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19079.hp1 NA19079.hp2 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0009 a0012 a0013 a0014	a0001c0001 a0002c0003 a0002c0007 others(7): Show a0001c0001 a0002c0003 a0002c0007 a0003c0002 a0004c0004 a0005c0005 a0009c0009 a0012c0016 a0013c0013 a0014c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0002c0003t0001 a0002c0007t0001 a0003c0002t0001 a0003c0002t0008 a0003c0002t0010 a0004c0004t0001 a0005c0005t0001 a0009c0009t0001 a0009c0009t0013 a0012c0016t0001 a0013c0013t0001 a0014c0015t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(90): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0002g0001 a0001c0001t0002g0034 a0001c0001t0002g0096 a0001c0001t0006g0038 a0001c0001t0009g0117 a0001c0001t0011g0119 a0002c0003t0001g0005 a0002c0003t0001g0037 a0002c0003t0001g0082 a0002c0003t0001g0094 a0002c0003t0001g0129 a0002c0007t0001g0074 a0002c0007t0001g0085 a0002c0007t0001g0086 a0003c0002t0001g0008 a0003c0002t0001g0025 a0003c0002t0001g0041 a0003c0002t0001g0084 a0003c0002t0001g0102 a0003c0002t0001g0113 a0003c0002t0001g0114 a0003c0002t0001g0115 a0003c0002t0008g0049 a0003c0002t0010g0091 a0004c0004t0001g0020 a0004c0004t0001g0023 a0004c0004t0001g0077 a0005c0005t0001g0088 a0005c0005t0001g0104 a0005c0005t0001g0109 a0005c0005t0001g0112 a0009c0009t0001g0070 a0009c0009t0013g0071 a0012c0016t0001g0121 a0013c0013t0001g0083 a0014c0015t0001g0122	215	276	0.7790	-23	c.-34 others(34): Show c.-3464_-3442delAAAAAAAAAAAAAAAAAAAAAAA	ENTREP3	ENSG00000160767.23	transcript	ENST00000361361.7	protein_coding		2836		chr1	TogoVar
EP400_chr12_131944942_132085460	132004002	TAAAGGGT others(16): Show TAAAGGGTTTTCCCCTGTTAGATC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03130.hp1 HG03139.hp2 others(1): Show HG02109.hp2 HG03130.hp1 HG03139.hp2 NA19043.hp2	a0002 a0005 a0002 a0005	a0002c0001 a0005c0007 a0002c0001 a0005c0007	a0002c0001t0003 a0005c0007t0003 a0002c0001t0003 a0005c0007t0003	a0002c0001t0003g0131 a0005c0007t0003g0132 a0005c0007t0003g0133 others(1): Show a0002c0001t0003g0131 a0005c0007t0003g0132 a0005c0007t0003g0133 a0005c0007t0003g0134	4	206	0.0194	-23	c.282 others(42): Show c.2828-1074_2828-1052delAAAGGGTTTTCCCCTGTTAGATC	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	12/52			chr12	TogoVar
EPB41L1_chr20_36149740_36237799	36235754	GGTGGAAC others(16): Show GGTGGAACCCTGATTAATAGTGCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0187 a0001c0003t0006g0187	1	234	0.0043	-23	c.64 others(34): Show c.6415_*6437delGTGGAACCCTGATTAATAGTGCA	EPB41L1	ENSG00000088367.23	transcript	ENST00000338074.7	protein_coding		2956		chr20	TogoVar
EPB42_chr15_43192227_43226018	43192788	GACCGTGC others(16): Show GACCGTGCGAATCAATGTAAGTAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	286	0.0035	-23	c.44 others(34): Show c.4491_*4513delGTACTTACATTGATTCGCACGGT	EPB42	ENSG00000166947.15	transcript	ENST00000441366.7	protein_coding		4438		chr15	TogoVar
EPB42_chr15_43192227_43226018	43220681	GTACCCCC others(16): Show GTACCCCCTCCCCCACCATAGTTA	G G	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0035 a0001c0002t0002g0035	1	286	0.0035	-23	c.10+ others(36): Show c.10+112_10+134delTAACTATGGTGGGGGAGGGGGTA	EPB42	ENSG00000166947.15	transcript	ENST00000441366.7	protein_coding	1/12			chr15	TogoVar
EPCAM_chr2_47364311_47392020	47365514	ATATATAT others(16): Show ATATATATATATATATATATATTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0350 a0001c0005t0001g0350	1	388	0.0026	-23	c.-39 others(34): Show c.-3991_-3969delTATATATATATATATATATATTT	EPCAM	ENSG00000119888.11	transcript	ENST00000263735.9	protein_coding		3796		chr2	TogoVar
EPCAM_chr2_47364311_47392020	47365516	ATATATAT others(16): Show ATATATATATATATATATATTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00735.hp2 HG02135.hp2 others(7): Show HG00408.hp2 HG00735.hp2 HG02135.hp2 HG02735.hp2 NA18747.hp2 NA18954.hp2 NA18980.hp1 NA18981.hp1 NA19009.hp2 NA19090.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0007 a0001c0001 a0007c0007	a0001c0001t0001 a0007c0007t0001 a0001c0001t0001 a0007c0007t0001	a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(7): Show a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0063 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0088 a0001c0001t0001g0100 a0001c0001t0001g0105 a0007c0007t0001g0015	10	427	0.0234	-23	c.-39 others(34): Show c.-3989_-3967delTATATATATATATATATATTTTT	EPCAM	ENSG00000119888.11	transcript	ENST00000263735.9	protein_coding		3794		chr2	TogoVar
EPCAM_chr2_47364311_47392020	47365518	ATATATAT others(16): Show ATATATATATATATATATTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	437	0.0023	-23	c.-39 others(34): Show c.-3987_-3965delTATATATATATATATATTTTTTT	EPCAM	ENSG00000119888.11	transcript	ENST00000263735.9	protein_coding		3792		chr2	TogoVar
EPCAM_chr2_47364311_47392020	47383607	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0304 a0002c0002t0001g0304	1	36	0.0278	-23	c.859 others(40): Show c.859-1536_859-1514delTTTTTTTTTTTTTTTTTTTTTTT	EPCAM	ENSG00000119888.11	transcript	ENST00000263735.9	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
EPHA10_chr1_37710976_37770120	37732863	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG04115.hp1 HG02965.hp1 HG04115.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0003 a0001c0001 a0004c0003	a0001c0001t0001 a0004c0003t0003 a0001c0001t0001 a0004c0003t0003	a0001c0001t0001g0220 a0004c0003t0003g0080 a0001c0001t0001g0220 a0004c0003t0003g0080	2	39	0.0513	-23	c.149 others(42): Show c.1492-1304_1492-1282delAAAAAAAAAAAAAAAAAAAAAAA	EPHA10	ENSG00000183317.17	transcript	ENST00000373048.9	protein_coding	6/16			chr1	TogoVar
EPHA2_chr1_16119337_16161069	16136692	GGAAGAAG others(16): Show GGAAGAAGAAGAAGAAGAAGAAAA	G G	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp2 HG03471.hp1 others(1): Show HG03130.hp1 HG03130.hp2 HG03471.hp1 HG06807.hp2	a0001 a0006 a0012 a0001 a0006 a0012	a0001c0002 a0006c0013 a0012c0019 a0001c0002 a0006c0013 a0012c0019	a0001c0002t0001 a0006c0013t0003 a0012c0019t0001 a0001c0002t0001 a0006c0013t0003 a0012c0019t0001	a0001c0002t0001g0082 a0006c0013t0003g0081 a0006c0013t0003g0123 others(1): Show a0001c0002t0001g0082 a0006c0013t0003g0081 a0006c0013t0003g0123 a0012c0019t0001g0203	4	279	0.0143	-23	c.131 others(40): Show c.1313-945_1313-923delTTTTCTTCTTCTTCTTCTTCTTC	EPHA2	ENSG00000142627.13	transcript	ENST00000358432.8	protein_coding	5/16			chr1	TogoVar
EPHA4_chr2_221413027_221577304	221526852	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 NA18953.hp1 HG01109.hp2 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0287 a0001c0001t0006g0003 a0001c0001t0003g0287 a0001c0001t0006g0003	2	102	0.0196	-23	c.824 others(42): Show c.824-25703_824-25681delTTTTTTTTTTTTTTTTTTTTTTT	EPHA4	ENSG00000116106.12	transcript	ENST00000281821.7	protein_coding	3/17			chr2	TogoVar
EPHA4_chr2_221413027_221577304	221566916	GAAGGAGA others(16): Show GAAGGAGAAGGAGAAGGAGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01261.hp1 HG02027.hp2 HG00323.hp2 HG01261.hp1 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0001 a0001c0003t0004 a0001c0001t0002 a0001c0003t0001 a0001c0003t0004	a0001c0001t0002g0122 a0001c0003t0001g0086 a0001c0003t0004g0085 a0001c0001t0002g0122 a0001c0003t0001g0086 a0001c0003t0004g0085	3	291	0.0103	-23	c.159 others(40): Show c.159+1779_159+1801delTCCTTCTCCTTCTCCTTCTCCTT	EPHA4	ENSG00000116106.12	transcript	ENST00000281821.7	protein_coding	2/17			chr2	TogoVar
EPHA5_chr4_65314567_65675489	65468668	TAACATAT others(16): Show TAACATATATACATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0044 a0001c0006t0044	a0001c0006t0044g0038 a0001c0006t0044g0038	1	232	0.0043	-23	c.140 others(44): Show c.1402+21686_1402+21708delTTATATATATATGTATATATGTT	EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	5/16			chr4	TogoVar
EPHA5_chr4_65314567_65675489	65576046	GAAAGAAA others(16): Show GAAAGAAAGAAAGAAAAGAAAAGA	G G	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG04204.hp2 HG03195.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0028 a0001c0004t0001 a0001c0001t0028 a0001c0004t0001	a0001c0001t0028g0143 a0001c0004t0001g0131 a0001c0001t0028g0143 a0001c0004t0001g0131	2	227	0.0088	-23	c.910 others(42): Show c.910+25572_910+25594delTCTTTTCTTTTCTTTCTTTCTTT	EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	3/16			chr4	TogoVar
EPHA5_chr4_65314567_65675489	65637997	GAATGAAT others(16): Show GAATGAATAATAGTGTTTCCCTTA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00438.hp1 others(73): Show HG00099.hp2 HG00280.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01175.hp1 HG01243.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01515.hp1 HG01943.hp2 HG01978.hp2 HG01981.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02135.hp1 HG02135.hp2 HG02165.hp2 HG02280.hp1 HG02300.hp2 HG02559.hp2 HG02572.hp2 HG02698.hp1 HG02723.hp1 HG02886.hp1 HG03041.hp1 HG03195.hp1 HG03239.hp2 HG03654.hp1 NA18943.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.hp1 NA19063.hp2 NA19065.hp2 NA19066.hp2 NA19083.hp2 NA19088.hp1 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA21309.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0001c0002 a0001c0010 others(3): Show a0001c0001 a0001c0002 a0001c0010 a0001c0015 a0003c0007 a0006c0012	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(22): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0015 a0001c0001t0022 a0001c0001t0023 a0001c0001t0030 a0001c0001t0049 a0001c0001t0050 a0001c0001t0053 a0001c0001t0057 a0001c0001t0058 a0001c0002t0001 a0001c0002t0002 a0001c0002t0029 a0001c0002t0048 a0001c0002t0051 a0001c0002t0052 a0001c0002t0056 a0001c0010t0061 a0001c0015t0055 a0003c0007t0002 a0006c0012t0029	a0001c0001t0003g0041 a0001c0001t0003g0103 a0001c0001t0004g0102 others(73): Show a0001c0001t0003g0041 a0001c0001t0003g0103 a0001c0001t0004g0102 a0001c0001t0005g0158 a0001c0001t0005g0183 a0001c0001t0005g0187 a0001c0001t0005g0204 a0001c0001t0005g0206 a0001c0001t0005g0210 a0001c0001t0005g0211 a0001c0001t0005g0212 a0001c0001t0005g0221 a0001c0001t0005g0225 a0001c0001t0005g0229 a0001c0001t0007g0167 a0001c0001t0007g0170 a0001c0001t0007g0175 a0001c0001t0007g0185 a0001c0001t0007g0218 a0001c0001t0007g0220 a0001c0001t0007g0222 a0001c0001t0007g0224 a0001c0001t0011g0184 a0001c0001t0011g0197 a0001c0001t0011g0198 a0001c0001t0011g0199 a0001c0001t0011g0200 a0001c0001t0011g0201 a0001c0001t0015g0160 a0001c0001t0015g0188 a0001c0001t0015g0207 a0001c0001t0015g0213 a0001c0001t0015g0215 a0001c0001t0022g0186 a0001c0001t0022g0189 a0001c0001t0022g0192 a0001c0001t0023g0179 a0001c0001t0023g0182 a0001c0001t0023g0195 a0001c0001t0030g0165 a0001c0001t0030g0181 a0001c0001t0049g0174 a0001c0001t0050g0191 a0001c0001t0053g0178 a0001c0001t0057g0190 a0001c0001t0058g0231 a0001c0002t0001g0101 a0001c0002t0002g0159 a0001c0002t0002g0163 a0001c0002t0002g0164 a0001c0002t0002g0166 a0001c0002t0002g0168 a0001c0002t0002g0169 a0001c0002t0002g0171 a0001c0002t0002g0173 a0001c0002t0002g0176 a0001c0002t0002g0177 a0001c0002t0002g0180 a0001c0002t0002g0193 a0001c0002t0002g0196 a0001c0002t0002g0202 a0001c0002t0002g0203 a0001c0002t0002g0208 a0001c0002t0002g0209 a0001c0002t0002g0216 a0001c0002t0002g0219 a0001c0002t0002g0223 a0001c0002t0029g0162 a0001c0002t0048g0226 a0001c0002t0051g0230 a0001c0002t0052g0217 a0001c0002t0056g0214 a0001c0010t0061g0234 a0001c0015t0055g0194 a0003c0007t0002g0161 a0006c0012t0029g0205	76	232	0.3276	-23	c.246 others(40): Show c.246+5343_246+5365delTAAGGGAAACACTATTATTCATT	EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	2/16			chr4	TogoVar
EPHA6_chr3_96809594_97766532	96836801	CTGCCAAC others(16): Show CTGCCAACACACATAGTCTTGTCT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03041.hp1 NA20300.hp1 HG02486.hp2 HG03041.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0001 a0001c0004t0023 a0001c0002t0001 a0001c0004t0001 a0001c0004t0023	a0001c0002t0001g0074 a0001c0004t0001g0075 a0001c0004t0023g0073 a0001c0002t0001g0074 a0001c0004t0001g0075 a0001c0004t0023g0073	3	82	0.0366	-23	c.385 others(42): Show c.385+21796_385+21818delCCAACACACATAGTCTTGTCTTG	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA8_chr1_22558489_22608595	22600157	GGAGGGAG others(16): Show GGAGGGAGGCAGGAAGGAAGGAAA	G G	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0017 a0001c0013t0017	a0001c0013t0017g0299 a0001c0013t0017g0299	1	340	0.0029	-23	c.238 others(40): Show c.2389-501_2389-479delGGGAGGCAGGAAGGAAGGAAAGA	EPHA8	ENSG00000070886.12	transcript	ENST00000166244.8	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPHB1_chr3_134790260_135265467	134959966	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0103 a0001c0002t0005g0103	1	11	0.0909	-23	c.805 others(40): Show c.805+7934_805+7956delTTTTTTTTTTTTTTTTTTTTTTT	EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHB1_chr3_134790260_135265467	135183031	TTTCTTTC others(16): Show TTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01106.hp1 HG01123.hp2 others(15): Show HG00673.hp2 HG01106.hp1 HG01123.hp2 HG01243.hp1 HG01981.hp1 HG02132.hp2 HG02602.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03492.hp2 HG03540.hp2 HG03927.hp1 HG03942.hp2 HG04204.hp1 NA18948.hp2 NA20300.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0009 a0001c0001 a0001c0004 a0001c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 a0001c0004t0005 a0001c0004t0014 a0001c0009t0004	a0001c0001t0001g0045 a0001c0001t0001g0051 a0001c0001t0001g0055 others(15): Show a0001c0001t0001g0045 a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0003g0090 a0001c0001t0005g0101 a0001c0001t0005g0102 a0001c0004t0001g0009 a0001c0004t0001g0020 a0001c0004t0001g0038 a0001c0004t0001g0067 a0001c0004t0001g0071 a0001c0004t0002g0052 a0001c0004t0002g0056 a0001c0004t0004g0114 a0001c0004t0004g0115 a0001c0004t0005g0097 a0001c0004t0014g0018 a0001c0009t0004g0001	18	125	0.1440	-23	c.188 others(42): Show c.1882+3052_1882+3074delCTTTCTTTCTTTCTTTCTTTCTT	EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPS15_chr1_51349263_51524266	51521581	AGCACACC others(16): Show AGCACACCTTACCCAGGCATGGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 NA19240.hp2 HG02630.hp1 NA19240.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0004 a0002c0001t0004	a0002c0001t0004g0042 a0002c0001t0004g0043 a0002c0001t0004g0042 a0002c0001t0004g0043	2	150	0.0133	-23	c.-23 others(34): Show c.-2373_-2351delCACCATGCCTGGGTAAGGTGTGC	EPS15	ENSG00000085832.18	transcript	ENST00000371733.8	protein_coding		2316		chr1	TogoVar
EQTN_chr9_27279654_27302150	27284302	TTGTCAAT others(16): Show TTGTCAATAAAACATGAACAGGTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0031 a0002c0003t0001g0031	1	444	0.0023	-23	c.39 others(32): Show c.398_*420delCACCTGTTCATGTTTTATTGACA	EQTN	ENSG00000120160.11	transcript	ENST00000380032.8	protein_coding		351		chr9	TogoVar
ERAS_chrX_48821513_48834869	48834777	AATCACAC others(16): Show AATCACACACACACACACACACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	306	0.0033	-23	c.49 others(34): Show c.4953_*4975delATCACACACACACACACACACAC	ERAS	ENSG00000187682.2	transcript	ENST00000636362.1	protein_coding		4909		chrX	TogoVar
ERBB4_chr2_211370717_212543802	211662038	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA18906.hp1 HG03486.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0025 a0001c0001t0012 a0001c0001t0025	a0001c0001t0012g0001 a0001c0001t0025g0051 a0001c0001t0012g0001 a0001c0001t0025g0051	2	5	0.4000	-23	c.187 others(42): Show c.1871+3262_1871+3284delTTTTTTTTTTTTTTTTTTTTTTT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	15/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212015042	ATATATAT others(16): Show ATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0016	1	38	0.0263	-23	c.235 others(42): Show c.235-67449_235-67427delATATATATATATATATATATATA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	2/27			chr2	TogoVar
ERBIN_chr5_65921575_66087546	65965382	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01891.hp2 HG02572.hp2 others(11): Show HG00673.hp1 HG01891.hp2 HG02572.hp2 HG02717.hp1 HG02965.hp2 HG02976.hp2 HG03098.hp2 HG03139.hp1 NA18522.hp1 NA18522.hp2 NA18977.hp1 NA18994.hp1 NA19000.hp1 NA19064.hp1	a0001 a0003 a0013 a0001 a0003 a0013	a0001c0001 a0001c0020 a0003c0004 others(1): Show a0001c0001 a0001c0020 a0003c0004 a0013c0024	a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 others(3): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 a0001c0020t0001 a0003c0004t0001 a0013c0024t0023	a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 others(11): Show a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0057 a0001c0001t0001g0067 a0001c0001t0001g0076 a0001c0001t0001g0128 a0001c0001t0006g0148 a0001c0001t0009g0039 a0001c0020t0001g0116 a0003c0004t0001g0270 a0013c0024t0023g0145	14	50	0.2800	-23	c.-57 others(42): Show c.-57-23234_-57-23212delTTTTTTTTTTTTTTTTTTTTTTT	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERBIN_chr5_65921575_66087546	65993589	ATATTTAA others(16): Show ATATTTAATTGTTAATTGCTATAT	A A	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 a0004c0005t0026 a0004c0014t0004 others(1): Show a0004c0005t0004 a0004c0005t0026 a0004c0014t0004 a0004c0017t0004	a0004c0005t0004g0008 a0004c0005t0004g0009 a0004c0005t0004g0010 others(13): Show a0004c0005t0004g0008 a0004c0005t0004g0009 a0004c0005t0004g0010 a0004c0005t0004g0011 a0004c0005t0004g0014 a0004c0005t0004g0015 a0004c0005t0004g0016 a0004c0005t0004g0017 a0004c0005t0004g0018 a0004c0005t0004g0020 a0004c0005t0004g0021 a0004c0005t0004g0022 a0004c0005t0004g0028 a0004c0005t0026g0013 a0004c0014t0004g0019 a0004c0017t0004g0012	16	304	0.0526	-23	c.189 others(38): Show c.189+683_189+705delTATTTAATTGTTAATTGCTATAT	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	3/25			chr5	TogoVar
ERBIN_chr5_65921575_66087546	66065590	CCTGTGTG others(16): Show CCTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0208 a0001c0002t0002g0208	1	297	0.0034	-23	c.363 others(42): Show c.3634-6578_3634-6556delCTGTGTGTGTGTGTGTGTGTGTG	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	21/25			chr5	TogoVar

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