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
EBF1_chr5_158690920_159104916	158852079	G G	GGAGGGGA others(4): Show GGAGGGGAGGGA	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0002 a0001c0002t0013g0002	1	196	0.0051	11	c.555 others(30): Show c.555-11970_555-11969insTCCCTCCCCTC	EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	6/15			chr5	TogoVar
EBF1_chr5_158690920_159104916	158940763	G G	GCCCCCCC others(4): Show GCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00738.hp1 HG01361.hp1 others(1): Show HG00140.hp1 HG00738.hp1 HG01361.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0012 a0001c0001t0025 a0001c0001t0027 others(1): Show a0001c0001t0012 a0001c0001t0025 a0001c0001t0027 a0001c0004t0004	a0001c0001t0012g0011 a0001c0001t0025g0178 a0001c0001t0027g0104 others(1): Show a0001c0001t0012g0011 a0001c0001t0025g0178 a0001c0001t0027g0104 a0001c0004t0004g0171	4	196	0.0204	11	c.555 others(32): Show c.555-100664_555-100654dupGGGGGGGGGGG	EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	6/15			chr5	TogoVar
EBF1_chr5_158690920_159104916	158969842	G G	GAGAAGAA others(4): Show GAGAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	196	0.0051	11	c.554 others(32): Show c.554+103553_554+103554insTTCTTTCTTCT	EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	6/15			chr5	TogoVar
EBF1_chr5_158690920_159104916	158969916	G G	GAAAGAAA others(4): Show GAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0078 a0001c0001t0078	a0001c0001t0078g0152 a0001c0001t0078g0152	1	196	0.0051	11	c.554 others(32): Show c.554+103479_554+103480insTTTCTTTCTTT	EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	6/15			chr5	TogoVar
EBF1_chr5_158690920_159104916	158969917	A A	AAAGAAAG others(4): Show AAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01070.hp2 HG02818.hp1 HG01069.hp2 HG01070.hp2 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0009 a0001c0001t0028 a0001c0001t0004 a0001c0001t0009 a0001c0001t0028	a0001c0001t0004g0091 a0001c0001t0009g0073 a0001c0001t0028g0192 a0001c0001t0004g0091 a0001c0001t0009g0073 a0001c0001t0028g0192	3	196	0.0153	11	c.554 others(32): Show c.554+103478_554+103479insCTTTCTTTCTT	EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	6/15			chr5	TogoVar
EBF1_chr5_158690920_159104916	159006647	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG03516.hp2 NA18966.hp1 HG01515.hp1 HG03516.hp2 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0019 a0001c0001t0093 a0001c0001t0001 a0001c0001t0019 a0001c0001t0093	a0001c0001t0001g0180 a0001c0001t0019g0067 a0001c0001t0093g0195 a0001c0001t0001g0180 a0001c0001t0019g0067 a0001c0001t0093g0195	3	196	0.0153	11	c.554 others(30): Show c.554+66738_554+66748dupTTTTTTTTTTT	EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	6/15			chr5	TogoVar
EBF2_chr8_25836725_26050413	25853497	T T	TAGAAAAA others(4): Show TAGAAAAAGAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0020 a0001c0001t0021g0020	1	220	0.0046	11	c.152 others(30): Show c.1529-2737_1529-2736insTTTCTTTTTCT	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	14/15			chr8	TogoVar
EBF2_chr8_25836725_26050413	25986001	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00735.hp2 HG01257.hp2 others(19): Show HG00544.hp1 HG00735.hp2 HG01257.hp2 HG01496.hp2 HG01515.hp2 HG02040.hp1 HG02040.hp2 HG02129.hp2 HG02622.hp1 HG02738.hp2 HG03041.hp1 HG03139.hp1 HG03490.hp2 HG03492.hp2 HG03942.hp1 HG04115.hp2 NA18747.hp1 NA18970.hp1 NA19011.hp2 NA19043.hp1 NA19065.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(11): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0012 a0001c0002t0001 a0001c0002t0003 a0001c0002t0008 a0001c0002t0017 a0001c0002t0022 a0001c0002t0024 a0001c0002t0026 a0001c0004t0003 a0001c0004t0008 a0002c0003t0001	a0001c0001t0002g0052 a0001c0001t0004g0133 a0001c0001t0006g0191 others(19): Show a0001c0001t0002g0052 a0001c0001t0004g0133 a0001c0001t0006g0191 a0001c0001t0012g0172 a0001c0002t0001g0014 a0001c0002t0001g0053 a0001c0002t0001g0058 a0001c0002t0003g0164 a0001c0002t0003g0165 a0001c0002t0003g0166 a0001c0002t0003g0176 a0001c0002t0003g0184 a0001c0002t0003g0193 a0001c0002t0003g0194 a0001c0002t0008g0152 a0001c0002t0017g0001 a0001c0002t0022g0069 a0001c0002t0024g0082 a0001c0002t0026g0074 a0001c0004t0003g0197 a0001c0004t0008g0156 a0002c0003t0001g0051	22	220	0.1000	11	c.551 others(30): Show c.551+47073_551+47083dupTTTTTTTTTTT	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar
EBI3_chr19_4224523_4242528	4227017	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0192 a0002c0002t0001g0192	1	438	0.0023	11	c.-25 others(22): Show c.-2534_-2533insTTTTTTTTTTT	EBI3	ENSG00000105246.6	transcript	ENST00000221847.6	protein_coding		2505		chr19	TogoVar
EBNA1BP2_chr1_43159184_43177290	43163613	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0009 a0002c0002t0002g0009	1	392	0.0026	11	c.82 others(20): Show c.829_*830insTTTTTTTTTTT	EBNA1BP2	ENSG00000117395.13	transcript	ENST00000236051.3	protein_coding		570		chr1	TogoVar
EBPL_chr13_49655674_49696486	49679006	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01192.hp2 HG02257.hp2 others(14): Show HG00323.hp1 HG01192.hp2 HG02257.hp2 HG02559.hp1 HG02896.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG03017.hp2 HG03225.hp1 HG03490.hp2 HG03516.hp2 HG03669.hp1 NA18959.hp1 NA19030.hp2 NA19063.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0084 a0001c0001t0001g0086 others(13): Show a0001c0001t0001g0039 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0166 a0001c0001t0001g0174 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0226 a0001c0001t0001g0266 a0001c0001t0001g0297	17	410	0.0415	11	c.172 others(28): Show c.172-9171_172-9161dupTTTTTTTTTTT	EBPL	ENSG00000123179.14	transcript	ENST00000242827.11	protein_coding	1/3			chr13	TogoVar
ECD_chr10_73128668_73173008	73152914	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00735.hp2 HG01074.hp1 others(29): Show HG00642.hp2 HG00735.hp2 HG01074.hp1 HG01243.hp2 HG01346.hp2 HG01884.hp2 HG02155.hp1 HG02257.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02809.hp1 HG02818.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG06807.hp1 NA18522.hp1 NA18906.hp2 NA19043.hp2 NA19055.hp2 NA20129.hp1	a0002 a0003 a0007 a0002 a0003 a0007	a0002c0002 a0003c0004 a0003c0005 others(1): Show a0002c0002 a0003c0004 a0003c0005 a0007c0010	a0002c0002t0002 a0002c0002t0003 a0003c0004t0003 others(2): Show a0002c0002t0002 a0002c0002t0003 a0003c0004t0003 a0003c0005t0003 a0007c0010t0003	a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0003g0014 others(25): Show a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0003g0014 a0002c0002t0003g0041 a0002c0002t0003g0042 a0002c0002t0003g0043 a0002c0002t0003g0044 a0002c0002t0003g0045 a0002c0002t0003g0046 a0002c0002t0003g0047 a0002c0002t0003g0048 a0002c0002t0003g0049 a0002c0002t0003g0093 a0003c0004t0003g0022 a0003c0004t0003g0095 a0003c0004t0003g0099 a0003c0004t0003g0100 a0003c0004t0003g0104 a0003c0004t0003g0105 a0003c0004t0003g0106 a0003c0004t0003g0107 a0003c0004t0003g0109 a0003c0005t0003g0020 a0003c0005t0003g0021 a0003c0005t0003g0094 a0003c0005t0003g0097 a0003c0005t0003g0098 a0007c0010t0003g0092	32	272	0.1177	11	c.784 others(26): Show c.784-494_784-493insTTTTTTTTTTT	ECD	ENSG00000122882.11	transcript	ENST00000372979.9	protein_coding	6/13			chr10	TogoVar
ECHDC1_chr6_127283712_127348609	127307648	G G	GAAAAAAA others(4): Show GAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02129.hp1 NA18979.hp1 others(1): Show HG00423.hp2 HG02129.hp1 NA18979.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 others(1): Show a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186	4	358	0.0112	11	c.497 others(28): Show c.497+7157_497+7167dupTTTTTTTTTTT	ECHDC1	ENSG00000093144.19	transcript	ENST00000454859.8	protein_coding	5/5			chr6	TogoVar
ECM2_chr9_92490315_92540990	92532015	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00642.hp1 HG02300.hp2 others(7): Show HG00597.hp1 HG00642.hp1 HG02300.hp2 HG02622.hp2 NA18966.hp2 NA18969.hp2 NA18975.hp2 NA18992.hp1 NA19063.hp2 NA19065.hp1	a0001 a0008 a0009 a0001 a0008 a0009	a0001c0002 a0001c0006 a0008c0020 others(1): Show a0001c0002 a0001c0006 a0008c0020 a0009c0021	a0001c0002t0002 a0001c0006t0001 a0008c0020t0002 others(1): Show a0001c0002t0002 a0001c0006t0001 a0008c0020t0002 a0009c0021t0006	a0001c0002t0002g0109 a0001c0002t0002g0154 a0001c0002t0002g0155 others(7): Show a0001c0002t0002g0109 a0001c0002t0002g0154 a0001c0002t0002g0155 a0001c0002t0002g0156 a0001c0002t0002g0161 a0001c0002t0002g0171 a0001c0002t0002g0172 a0001c0006t0001g0065 a0008c0020t0002g0160 a0009c0021t0006g0063	10	400	0.0250	11	c.-28 others(28): Show c.-28+3907_-28+3917dupAAAAAAAAAAA	ECM2	ENSG00000106823.13	transcript	ENST00000344604.10	protein_coding	1/9			chr9	TogoVar
ECM2_chr9_92490315_92540990	92532016	T T	TTTTTTTT others(4): Show TTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02717.hp2 HG02895.hp2 others(3): Show HG01081.hp2 HG02717.hp2 HG02895.hp2 HG03453.hp2 HG03486.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0009 a0001c0017 a0001c0002 a0001c0009 a0001c0017	a0001c0002t0004 a0001c0009t0002 a0001c0017t0001 a0001c0002t0004 a0001c0009t0002 a0001c0017t0001	a0001c0002t0004g0184 a0001c0009t0002g0014 a0001c0009t0002g0146 others(2): Show a0001c0002t0004g0184 a0001c0009t0002g0014 a0001c0009t0002g0146 a0001c0009t0002g0151 a0001c0017t0001g0188	6	400	0.0150	11	c.-28 others(28): Show c.-28+3916_-28+3917insCAAAAAAAAAA	ECM2	ENSG00000106823.13	transcript	ENST00000344604.10	protein_coding	1/9			chr9	TogoVar
ECM2_chr9_92490315_92540990	92533324	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0122 a0001c0002t0002g0122	1	400	0.0025	11	c.-28 others(28): Show c.-28+2608_-28+2609insATATATATATA	ECM2	ENSG00000106823.13	transcript	ENST00000344604.10	protein_coding	1/9			chr9	TogoVar
ECM2_chr9_92490315_92540990	92533328	A A	AAAAATAT others(4): Show AAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA19009.hp1 HG02027.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0278 a0001c0001t0001g0279	2	400	0.0050	11	c.-28 others(28): Show c.-28+2604_-28+2605insATATATATTTT	ECM2	ENSG00000106823.13	transcript	ENST00000344604.10	protein_coding	1/9			chr9	TogoVar
ECPAS_chr9_111355685_111489383	111407403	G G	GAAAAAAA others(4): Show GAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	354	0.0028	11	c.265 others(30): Show c.2652+1157_2652+1167dupTTTTTTTTTTT	ECPAS	ENSG00000136813.15	transcript	ENST00000684092.1	protein_coding	24/49			chr9	TogoVar
ECRG4_chr2_106060688_106083155	106067058	C C	CGGGGGGG others(4): Show CGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0193 a0001c0001t0003g0193	1	434	0.0023	11	c.79+ others(26): Show c.79+1215_79+1216insGGGGGGGGGGG	ECRG4	ENSG00000119147.10	transcript	ENST00000238044.8	protein_coding	1/3			chr2	TogoVar
ECRG4_chr2_106060688_106083155	106067059	C C	CGGGGCGG others(4): Show CGGGGCGGGGGG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00544.hp2 HG01243.hp2 others(12): Show HG00323.hp2 HG00544.hp2 HG01243.hp2 HG01943.hp2 HG01981.hp1 HG01993.hp2 HG02055.hp2 HG02074.hp1 HG02080.hp2 HG02257.hp1 HG02965.hp2 NA18961.hp2 NA18972.hp2 NA19089.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0208 others(9): Show a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0208 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0003t0001g0049	15	434	0.0346	11	c.79+ others(26): Show c.79+1220_79+1221insCGGGGGGGGGG	ECRG4	ENSG00000119147.10	transcript	ENST00000238044.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
ECRG4_chr2_106060688_106083155	106067059	C C	CGGGGGGG others(4): Show CGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01192.hp2 HG00735.hp1 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0272 a0001c0001t0001g0187 a0001c0001t0001g0272	2	434	0.0046	11	c.79+ others(26): Show c.79+1222_79+1232dupGGGGGGGGGGG	ECRG4	ENSG00000119147.10	transcript	ENST00000238044.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
ECRG4_chr2_106060688_106083155	106067071	G G	GGGGGGGG others(4): Show GGGGGGGGGGGA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0053 a0001c0002t0001g0053	1	434	0.0023	11	c.79+ others(26): Show c.79+1232_79+1233insGGGGGGAGGGG	ECRG4	ENSG00000119147.10	transcript	ENST00000238044.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
ECRG4_chr2_106060688_106083155	106071322	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG03098.hp2 others(1): Show HG01884.hp1 HG01891.hp1 HG03098.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0165 a0001c0001t0001g0241 a0001c0001t0001g0243 others(1): Show a0001c0001t0001g0165 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0002t0001g0064	4	434	0.0092	11	c.80- others(24): Show c.80-502_80-492dupAAAAAAAAAAA	ECRG4	ENSG00000119147.10	transcript	ENST00000238044.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
ECT2L_chr6_138791087_138909070	138847355	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03209.hp2 HG02717.hp1 HG03209.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0015 a0004c0006t0001 a0004c0006t0015	a0004c0006t0001g0311 a0004c0006t0015g0312 a0004c0006t0001g0311 a0004c0006t0015g0312	2	326	0.0061	11	c.903 others(26): Show c.903+701_903+711dupTTTTTTTTTTT	ECT2L	ENSG00000203734.13	transcript	ENST00000541398.7	protein_coding	8/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
ECT2L_chr6_138791087_138909070	138850994	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0033 a0001c0033	a0001c0033t0002 a0001c0033t0002	a0001c0033t0002g0299 a0001c0033t0002g0299	1	326	0.0031	11	c.106 others(30): Show c.1069+1579_1069+1589dupAAAAAAAAAAA	ECT2L	ENSG00000203734.13	transcript	ENST00000541398.7	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
ECT2L_chr6_138791087_138909070	138864002	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0250 a0001c0001t0008g0250	1	326	0.0031	11	c.129 others(28): Show c.1292-977_1292-967dupAAAAAAAAAAA	ECT2L	ENSG00000203734.13	transcript	ENST00000541398.7	protein_coding	11/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
ECT2L_chr6_138791087_138909070	138890492	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00609.hp2 HG00733.hp2 others(14): Show HG00558.hp2 HG00609.hp2 HG00733.hp2 HG03710.hp1 NA18947.hp2 NA18966.hp1 NA18978.hp2 NA18981.hp2 NA19004.hp2 NA19009.hp2 NA19060.hp2 NA19067.hp1 NA19068.hp2 NA19079.hp1 NA19086.hp1 NA19087.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0001c0021 others(1): Show a0001c0001 a0001c0009 a0001c0021 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0009t0001 a0001c0021t0004 a0002c0002t0001 a0002c0002t0006	a0001c0001t0001g0079 a0001c0001t0001g0104 a0001c0001t0001g0116 others(14): Show a0001c0001t0001g0079 a0001c0001t0001g0104 a0001c0001t0001g0116 a0001c0001t0001g0154 a0001c0001t0001g0161 a0001c0001t0001g0165 a0001c0001t0001g0293 a0001c0001t0004g0094 a0001c0001t0004g0227 a0001c0001t0004g0229 a0001c0001t0006g0255 a0001c0001t0006g0258 a0001c0009t0001g0170 a0001c0021t0004g0143 a0002c0002t0001g0162 a0002c0002t0001g0205 a0002c0002t0006g0284	17	326	0.0522	11	c.241 others(30): Show c.2414+1479_2414+1489dupTTTTTTTTTTT	ECT2L	ENSG00000203734.13	transcript	ENST00000541398.7	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
ECT2L_chr6_138791087_138909070	138896091	A A	AGTTTTTT others(4): Show AGTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0212 a0001c0001t0016g0212	1	326	0.0031	11	c.241 others(30): Show c.2415-4857_2415-4856insGTTTTTTTTTT	ECT2L	ENSG00000203734.13	transcript	ENST00000541398.7	protein_coding	20/21			chr6	TogoVar
ECT2L_chr6_138791087_138909070	138907313	A A	AAGTGTGT others(4): Show AAGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG02809.hp2 HG00738.hp2 HG02809.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0017 a0001c0001t0002 a0002c0002t0017	a0001c0001t0002g0047 a0002c0002t0017g0010 a0001c0001t0002g0047 a0002c0002t0017g0010	2	326	0.0061	11	c.46 others(22): Show c.4686_*4687insAGTGTGTGTGT	ECT2L	ENSG00000203734.13	transcript	ENST00000541398.7	protein_coding		3244		chr6	TogoVar
ECT2_chr3_172745726_172826474	172767724	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02486.hp2 HG02572.hp2 others(17): Show HG01255.hp1 HG02486.hp2 HG02572.hp2 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02922.hp1 HG03041.hp1 HG03195.hp2 HG03209.hp2 HG03453.hp1 HG03486.hp2 HG03579.hp1 NA18906.hp1 NA19030.hp2 NA20129.hp2 NA20300.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0006 a0004c0005 a0001c0001 a0001c0006 a0004c0005	a0001c0001t0004 a0001c0006t0004 a0004c0005t0004 a0001c0001t0004 a0001c0006t0004 a0004c0005t0004	a0001c0001t0004g0030 a0001c0001t0004g0244 a0001c0001t0004g0245 others(16): Show a0001c0001t0004g0030 a0001c0001t0004g0244 a0001c0001t0004g0245 a0001c0001t0004g0246 a0001c0001t0004g0247 a0001c0001t0004g0248 a0001c0001t0004g0249 a0001c0001t0004g0250 a0001c0001t0004g0252 a0001c0001t0004g0253 a0001c0001t0004g0254 a0001c0001t0004g0255 a0001c0001t0004g0260 a0001c0001t0004g0261 a0001c0001t0004g0262 a0001c0001t0004g0263 a0001c0006t0004g0251 a0004c0005t0004g0256 a0004c0005t0004g0257	20	318	0.0629	11	c.129 others(30): Show c.1292-1273_1292-1272insTTTTTTTTTTT	ECT2	ENSG00000114346.14	transcript	ENST00000392692.8	protein_coding	12/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
EDARADD_chr1_236389286_236489930	236399086	T T	TTCTTTGT others(4): Show TTCTTTGTAAAG	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	294	0.0034	11	c.61+ others(26): Show c.61+4583_61+4593dupCTTTGTAAAGT	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EDARADD_chr1_236389286_236489930	236405790	T T	TTTCTTTC others(4): Show TTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0003 a0001c0001t0008g0003	1	294	0.0034	11	c.62- others(26): Show c.62-3424_62-3423insCTTTCTTTCTT	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EDARADD_chr1_236389286_236489930	236447233	C C	CTTTCTTT others(4): Show CTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG01192.hp2 HG01168.hp2 HG01169.hp2 HG01192.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0021 a0002c0002t0002 a0001c0001t0021 a0002c0002t0002	a0001c0001t0021g0217 a0002c0002t0002g0254 a0002c0002t0002g0255 a0001c0001t0021g0217 a0002c0002t0002g0254 a0002c0002t0002g0255	3	294	0.0102	11	c.219 others(30): Show c.219+19783_219+19784insTTTCTTTCTTT	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	4/5			chr1	TogoVar
EDARADD_chr1_236389286_236489930	236478389	G G	GTGTATGT others(4): Show GTGTATGTGTAT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG03688.hp1 HG01361.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0123 a0001c0001t0005g0176 a0001c0001t0005g0123 a0001c0001t0005g0176	2	294	0.0068	11	c.266 others(28): Show c.266-3878_266-3877insTGTATGTGTAT	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	5/5			chr1	TogoVar
EDA_chrX_69611113_70044472	69661299	C C	CTGATGGT others(4): Show CTGATGGTAGTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00423.hp1 others(190): Show HG00099.hp1 HG00140.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02258.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp1 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18948.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18970.hp1 NA18971.hp1 NA18977.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18990.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19012.hp1 NA19056.hp1 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19079.hp1 NA19082.hp1 NA19083.hp1 NA19085.hp1 NA19088.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0002c0003 others(1): Show a0001c0001 a0001c0004 a0002c0003 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0004t0001 a0002c0003t0001 a0003c0005t0001	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0009 others(190): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0002g0004 a0001c0001t0002g0008 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0019 a0001c0001t0002g0022 a0001c0001t0002g0026 a0001c0001t0002g0029 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0064 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0089 a0001c0001t0002g0095 a0001c0001t0002g0105 a0001c0001t0002g0125 a0001c0001t0002g0145 a0001c0001t0002g0149 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0164 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0181 a0001c0001t0003g0023 a0001c0001t0003g0025 a0001c0001t0003g0041 a0001c0001t0003g0060 a0001c0001t0003g0062 a0001c0001t0003g0066 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0083 a0001c0001t0003g0087 a0001c0001t0003g0093 a0001c0001t0003g0096 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0121 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0153 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0160 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0185 a0001c0001t0003g0195 a0001c0001t0004g0123 a0001c0001t0004g0128 a0001c0001t0004g0135 a0001c0001t0004g0136 a0001c0001t0004g0139 a0001c0001t0004g0141 a0001c0001t0004g0142 a0001c0001t0004g0179 a0001c0001t0004g0182 a0001c0001t0004g0194 a0001c0001t0004g0199 a0001c0001t0005g0010 a0001c0001t0005g0011 a0001c0001t0005g0120 a0001c0001t0006g0188 a0001c0001t0006g0191 a0001c0001t0007g0035 a0001c0001t0007g0052 a0001c0001t0008g0107 a0001c0001t0008g0184 a0001c0001t0009g0007 a0001c0001t0010g0126 a0001c0001t0010g0127 a0001c0001t0011g0134 a0001c0001t0012g0108 a0001c0001t0013g0138 a0001c0001t0014g0027 a0001c0001t0015g0119 a0001c0001t0016g0003 a0001c0001t0017g0054 a0001c0001t0018g0042 a0001c0001t0019g0161 a0001c0001t0020g0163 a0001c0001t0021g0099 a0001c0001t0022g0100 a0001c0004t0001g0005 a0002c0003t0001g0109 a0003c0005t0001g0018	193	226	0.8540	11	c.396 others(30): Show c.396+44596_396+44597insGATGGTAGTTT	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
EDA_chrX_69611113_70044472	69782366	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG03041.hp1 HG03453.hp2 HG01255.hp1 HG03041.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0136 a0001c0001t0004g0139 a0001c0001t0004g0142 a0001c0001t0004g0136 a0001c0001t0004g0139 a0001c0001t0004g0142	3	226	0.0133	11	c.396 others(32): Show c.396+165678_396+165688dupAAAAAAAAAAA	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
EDC3_chr15_74625558_74701024	74650685	A A	AAGTATTT others(4): Show AAGTATTTCCTT	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0215 a0001c0001t0002g0215	1	286	0.0035	11	c.820 others(28): Show c.820+5037_820+5047dupAAGGAAATACT	EDC3	ENSG00000179151.13	transcript	ENST00000315127.9	protein_coding	4/6			chr15	TogoVar
EDC3_chr15_74625558_74701024	74700576	G G	GTGTGTGT others(4): Show GTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0254 a0001c0001t0002g0254	1	286	0.0035	11	c.-47 others(22): Show c.-4716_-4715insACACACACACA	EDC3	ENSG00000179151.13	transcript	ENST00000315127.9	protein_coding		4553		chr15	TogoVar
EDDM13_chr19_56267748_56315454	56302566	T T	TTTCTTCC others(4): Show TTTCTTCCTCCC	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0106 a0001c0001t0005g0106	1	396	0.0025	11	c.423 others(26): Show c.423+471_423+472insTTCTTCCTCCC	EDDM13	ENSG00000267710.9	transcript	ENST00000649256.2	protein_coding	13/14			chr19	TogoVar
EDF1_chr9_136857119_136871308	136868047	T T	TTCTCTGT others(4): Show TTCTCTGTTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	378	0.0027	11	c.-17 others(22): Show c.-1790_-1789insGGAAACAGAGA	EDF1	ENSG00000107223.13	transcript	ENST00000224073.6	protein_coding		1740		chr9	TogoVar
EDF1_chr9_136857119_136871308	136870288	G G	GTACTATA others(4): Show GTACTATATAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	378	0.0027	11	c.-40 others(22): Show c.-4031_-4030insACTATATAGTA	EDF1	ENSG00000107223.13	transcript	ENST00000224073.6	protein_coding		3981		chr9	TogoVar
EDIL3_chr5_83935554_84389880	84080298	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00438.hp2 others(27): Show HG00140.hp2 HG00323.hp1 HG00438.hp2 HG00642.hp2 HG01070.hp1 HG01109.hp1 HG01167.hp1 HG01243.hp1 HG01884.hp1 HG02015.hp2 HG02080.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02602.hp2 HG02615.hp1 HG02896.hp1 HG02897.hp1 HG02965.hp2 HG03139.hp1 HG03471.hp2 HG03492.hp2 HG03654.hp2 HG03704.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 NA18957.hp1 NA19062.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0019 a0001c0001t0020 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0014 a0001c0004t0010	a0001c0001t0001g0012 a0001c0001t0001g0028 a0001c0001t0001g0031 others(27): Show a0001c0001t0001g0012 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0059 a0001c0001t0001g0147 a0001c0001t0002g0003 a0001c0001t0002g0039 a0001c0001t0002g0053 a0001c0001t0002g0075 a0001c0001t0002g0132 a0001c0001t0003g0006 a0001c0001t0003g0065 a0001c0001t0003g0089 a0001c0001t0003g0095 a0001c0001t0004g0071 a0001c0001t0005g0107 a0001c0001t0007g0038 a0001c0001t0007g0108 a0001c0001t0009g0016 a0001c0001t0019g0155 a0001c0001t0020g0158 a0001c0002t0001g0112 a0001c0002t0001g0129 a0001c0002t0001g0146 a0001c0002t0002g0093 a0001c0002t0002g0099 a0001c0002t0003g0101 a0001c0002t0014g0068 a0001c0004t0010g0156 a0001c0004t0010g0157	30	158	0.1899	11	c.652 others(30): Show c.652-13703_652-13693dupTTTTTTTTTTT	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	6/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84252493	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01167.hp2 HG01884.hp1 others(4): Show HG00738.hp2 HG01167.hp2 HG01884.hp1 HG02129.hp2 HG02280.hp1 HG02486.hp2 HG03195.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0013 a0001c0001t0018 a0002c0006t0002	a0001c0001t0002g0039 a0001c0001t0003g0036 a0001c0001t0006g0040 others(4): Show a0001c0001t0002g0039 a0001c0001t0003g0036 a0001c0001t0006g0040 a0001c0001t0006g0041 a0001c0001t0013g0100 a0001c0001t0018g0050 a0002c0006t0002g0037	7	158	0.0443	11	c.196 others(28): Show c.196+1580_196+1590dupTTTTTTTTTTT	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	2/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84262659	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00741.hp2 HG01993.hp2 others(2): Show HG00738.hp1 HG00741.hp2 HG01993.hp2 HG02897.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0004t0010	a0001c0001t0001g0045 a0001c0001t0002g0048 a0001c0001t0004g0055 others(2): Show a0001c0001t0001g0045 a0001c0001t0002g0048 a0001c0001t0004g0055 a0001c0001t0004g0116 a0001c0004t0010g0157	5	158	0.0317	11	c.68- others(26): Show c.68-8458_68-8448dupAAAAAAAAAAA	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	1/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84384921	C C	CCCGCCCG others(4): Show CCCGCCCGCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0158 a0001c0001t0020g0158	1	158	0.0063	11	c.-54 others(20): Show c.-548_-547insAGGGCGGGCGG	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding		42		chr5	TogoVar
EDIL3_chr5_83935554_84389880	84385862	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	158	0.0063	11	c.-14 others(22): Show c.-1489_-1488insAAAAAAAAAAA	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding		983		chr5	TogoVar
EDN1_chr6_12285361_12302194	12294920	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0110 a0001c0001t0003g0110	1	452	0.0022	11	c.533 others(26): Show c.533+526_533+536dupTTTTTTTTTTT	EDN1	ENSG00000078401.7	transcript	ENST00000379375.6	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
EDN3_chr20_59295611_59330992	59306595	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG01081.hp2 others(20): Show HG00280.hp1 HG00323.hp2 HG01081.hp2 HG02015.hp1 HG03130.hp2 HG03225.hp2 NA18947.hp1 NA18948.hp2 NA18949.hp2 NA18955.hp1 NA18963.hp1 NA18969.hp2 NA18971.hp1 NA18973.hp2 NA19001.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19072.hp2 NA19074.hp1 NA19076.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0016	a0001c0001t0001g0019 a0001c0001t0001g0054 a0001c0001t0001g0066 others(16): Show a0001c0001t0001g0019 a0001c0001t0001g0054 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0112 a0001c0001t0001g0120 a0001c0001t0001g0205 a0001c0001t0002g0018 a0001c0001t0002g0034 a0001c0001t0002g0042 a0001c0001t0002g0054 a0001c0001t0002g0067 a0001c0001t0002g0078 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0164 a0001c0001t0011g0018 a0001c0001t0016g0042	23	398	0.0578	11	c.365 others(28): Show c.365+4887_365+4897dupAAAAAAAAAAA	EDN3	ENSG00000124205.18	transcript	ENST00000337938.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
EDNRA_chr4_147476097_147549954	147504957	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01167.hp1 HG01167.hp2 others(30): Show HG00597.hp2 HG01167.hp1 HG01167.hp2 HG01496.hp2 HG01891.hp2 HG01981.hp1 HG02040.hp2 HG02055.hp2 HG02523.hp1 HG02698.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03209.hp1 HG03492.hp1 HG03516.hp2 HG04115.hp2 HG04228.hp1 NA18942.hp1 NA18945.hp2 NA18947.hp2 NA18962.hp2 NA18968.hp1 NA18972.hp2 NA18977.hp2 NA18984.hp2 NA18992.hp1 NA18998.hp2 NA19009.hp1 NA19011.hp2 NA19057.hp1 NA19078.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(8): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0026 a0001c0001t0028 a0001c0002t0002 a0001c0002t0004 a0001c0002t0007 a0001c0002t0025	a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0003g0008 others(28): Show a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0003g0008 a0001c0001t0003g0211 a0001c0001t0003g0217 a0001c0001t0003g0253 a0001c0001t0003g0254 a0001c0001t0003g0260 a0001c0001t0006g0237 a0001c0001t0006g0263 a0001c0001t0007g0264 a0001c0001t0008g0194 a0001c0001t0026g0212 a0001c0001t0028g0249 a0001c0002t0002g0010 a0001c0002t0002g0207 a0001c0002t0002g0219 a0001c0002t0002g0239 a0001c0002t0002g0240 a0001c0002t0002g0242 a0001c0002t0002g0243 a0001c0002t0002g0244 a0001c0002t0002g0255 a0001c0002t0002g0256 a0001c0002t0002g0267 a0001c0002t0004g0195 a0001c0002t0004g0216 a0001c0002t0004g0218 a0001c0002t0004g0241 a0001c0002t0007g0224 a0001c0002t0025g0238	33	280	0.1179	11	c.421 others(30): Show c.421-14884_421-14874dupAAAAAAAAAAA	EDNRA	ENSG00000151617.17	transcript	ENST00000651419.1	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
EDNRA_chr4_147476097_147549954	147505327	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0202 a0001c0002t0004g0202	1	280	0.0036	11	c.421 others(30): Show c.421-14506_421-14496dupTTTTTTTTTTT	EDNRA	ENSG00000151617.17	transcript	ENST00000651419.1	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr4	TogoVar

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