Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact

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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
DYSF_chr2_71448561_71691763	71635761	AAAAAGAA others(2): Show AAAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02723.hp2 HG02965.hp1 others(5): Show HG02647.hp1 HG02723.hp2 HG02965.hp1 HG03195.hp2 HG03540.hp1 NA18522.hp1 NA18906.hp2 NA21309.hp1	a0001 a0002 a0018 others(1): Show a0001 a0002 a0018 a0027	a0001c0003 a0001c0004 a0001c0007 others(5): Show a0001c0003 a0001c0004 a0001c0007 a0001c0038 a0002c0021 a0002c0023 a0018c0068 a0027c0028	a0001c0003t0001 a0001c0004t0001 a0001c0007t0001 others(5): Show a0001c0003t0001 a0001c0004t0001 a0001c0007t0001 a0001c0038t0001 a0002c0021t0001 a0002c0023t0001 a0018c0068t0004 a0027c0028t0004	a0001c0003t0001g0091 a0001c0004t0001g0062 a0001c0007t0001g0184 others(5): Show a0001c0003t0001g0091 a0001c0004t0001g0062 a0001c0007t0001g0184 a0001c0038t0001g0061 a0002c0021t0001g0090 a0002c0023t0001g0073 a0018c0068t0004g0100 a0027c0028t0004g0047	8	190	0.0421	-9	c.441 others(28): Show c.4411-8199_4411-8191delGAAAGAAAA		DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	40/54					INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71448561_71691763	71635770	GAAAAAAG others(2): Show GAAAAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02723.hp1 HG02809.hp1 others(4): Show HG00558.hp1 HG02723.hp1 HG02809.hp1 HG02976.hp2 HG03098.hp2 HG03139.hp2 HG03486.hp1	a0001 a0002 a0001 a0002	a0001c0016 a0001c0048 a0001c0049 others(3): Show a0001c0016 a0001c0048 a0001c0049 a0001c0052 a0001c0064 a0002c0022	a0001c0016t0002 a0001c0048t0002 a0001c0049t0002 others(3): Show a0001c0016t0002 a0001c0048t0002 a0001c0049t0002 a0001c0052t0001 a0001c0064t0001 a0002c0022t0001	a0001c0016t0002g0019 a0001c0016t0002g0021 a0001c0048t0002g0028 others(4): Show a0001c0016t0002g0019 a0001c0016t0002g0021 a0001c0048t0002g0028 a0001c0049t0002g0178 a0001c0052t0001g0008 a0001c0064t0001g0046 a0002c0022t0001g0001	7	188	0.0372	-9	c.441 others(28): Show c.4411-8191_4411-8183delAAAGAAAAA		DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	40/54					INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71519092	CAAAAAAA others(2): Show CAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01891.hp1 HG01981.hp1 others(12): Show HG00438.hp1 HG01891.hp1 HG01981.hp1 HG02257.hp1 HG02723.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG03139.hp2 HG03486.hp2 HG03579.hp2 NA19030.hp2 NA20129.hp1 NA20805.hp1 NA21309.hp1	a0001 a0002 a0012 others(1): Show a0001 a0002 a0012 a0019	a0001c0004 a0001c0031 a0001c0048 others(7): Show a0001c0004 a0001c0031 a0001c0048 a0002c0021 a0002c0022 a0002c0023 a0002c0070 a0002c0075 a0012c0069 a0019c0071	a0001c0004t0001 a0001c0031t0001 a0001c0048t0002 others(8): Show a0001c0004t0001 a0001c0031t0001 a0001c0048t0002 a0002c0021t0001 a0002c0021t0002 a0002c0022t0001 a0002c0023t0001 a0002c0070t0001 a0002c0075t0001 a0012c0069t0001 a0019c0071t0005	a0001c0004t0001g0025 a0001c0004t0001g0030 a0001c0004t0001g0032 others(12): Show a0001c0004t0001g0025 a0001c0004t0001g0030 a0001c0004t0001g0032 a0001c0031t0001g0121 a0001c0048t0002g0190 a0002c0021t0001g0042 a0002c0021t0002g0149 a0002c0022t0001g0111 a0002c0022t0001g0201 a0002c0023t0001g0036 a0002c0023t0001g0124 a0002c0070t0001g0079 a0002c0075t0001g0138 a0012c0069t0001g0200 a0019c0071t0005g0077	15	68	0.2206	-9	c.100 others(28): Show c.1003-1064_1003-1056delAAAAAAAAA		DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	10/55					INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71635761	AAAAAGAA others(2): Show AAAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02647.hp2 HG02723.hp1 others(6): Show HG01261.hp1 HG02647.hp2 HG02723.hp1 HG02965.hp2 HG03195.hp1 HG03540.hp2 NA18522.hp2 NA18906.hp1 NA21309.hp1	a0001 a0002 a0019 others(1): Show a0001 a0002 a0019 a0029	a0001c0003 a0001c0004 a0001c0007 others(6): Show a0001c0003 a0001c0004 a0001c0007 a0001c0010 a0001c0040 a0002c0021 a0002c0023 a0019c0071 a0029c0029	a0001c0003t0001 a0001c0004t0001 a0001c0007t0002 others(6): Show a0001c0003t0001 a0001c0004t0001 a0001c0007t0002 a0001c0010t0001 a0001c0040t0001 a0002c0021t0001 a0002c0023t0001 a0019c0071t0005 a0029c0029t0005	a0001c0003t0001g0043 a0001c0004t0001g0080 a0001c0007t0002g0189 others(6): Show a0001c0003t0001g0043 a0001c0004t0001g0080 a0001c0007t0002g0189 a0001c0010t0001g0041 a0001c0040t0001g0096 a0002c0021t0001g0042 a0002c0023t0001g0124 a0019c0071t0005g0077 a0029c0029t0005g0083	9	206	0.0437	-9	c.452 others(28): Show c.4528-8199_4528-8191delGAAAGAAAA		DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	41/55					INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71635770	GAAAAAAG others(2): Show GAAAAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01167.hp1 HG02723.hp2 others(5): Show HG00558.hp1 HG01167.hp1 HG02723.hp2 HG02809.hp2 HG02976.hp1 HG03098.hp2 HG03139.hp2 HG03486.hp1	a0001 a0002 a0001 a0002	a0001c0009 a0001c0016 a0001c0050 others(4): Show a0001c0009 a0001c0016 a0001c0050 a0001c0051 a0001c0053 a0001c0067 a0002c0022	a0001c0009t0008 a0001c0016t0001 a0001c0050t0001 others(4): Show a0001c0009t0008 a0001c0016t0001 a0001c0050t0001 a0001c0051t0002 a0001c0053t0001 a0001c0067t0001 a0002c0022t0001	a0001c0009t0008g0196 a0001c0016t0001g0026 a0001c0016t0001g0027 others(5): Show a0001c0009t0008g0196 a0001c0016t0001g0026 a0001c0016t0001g0027 a0001c0050t0001g0028 a0001c0051t0002g0195 a0001c0053t0001g0206 a0001c0067t0001g0082 a0002c0022t0001g0201	8	202	0.0396	-9	c.452 others(28): Show c.4528-8191_4528-8183delAAAGAAAAA		DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	41/55					INFO_REALIGN_3_PRIME	chr2	TogoVar
DZANK1_chr20_18378367_18472030	18381865	CAAAAAAA others(2): Show CAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp2 HG02129.hp2 HG02451.hp2 others(11): Show HG02071.hp2 HG02129.hp2 HG02451.hp2 HG02622.hp2 HG02809.hp2 HG02896.hp1 HG02897.hp2 HG03540.hp2 NA18956.hp1 NA18978.hp1 NA19000.hp1 NA19003.hp2 NA19075.hp1 NA19088.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0007 a0013	a0001c0001 a0001c0006 a0002c0004 others(5): Show a0001c0001 a0001c0006 a0002c0004 a0003c0003 a0003c0018 a0005c0009 a0007c0013 a0013c0035	a0001c0001t0011 a0001c0006t0001 a0002c0004t0001 others(5): Show a0001c0001t0011 a0001c0006t0001 a0002c0004t0001 a0003c0003t0001 a0003c0018t0001 a0005c0009t0001 a0007c0013t0001 a0013c0035t0011	a0001c0001t0011g0276 a0001c0006t0001g0028 a0001c0006t0001g0038 others(10): Show a0001c0001t0011g0276 a0001c0006t0001g0028 a0001c0006t0001g0038 a0002c0004t0001g0044 a0002c0004t0001g0055 a0003c0003t0001g0009 a0003c0018t0001g0205 a0005c0009t0001g0147 a0007c0013t0001g0198 a0007c0013t0001g0199 a0007c0013t0001g0200 a0007c0013t0001g0228 a0013c0035t0011g0098	14	29	0.4828	-9	c.25 others(20): Show c.2525_*2533delTTTTTTTTT		DZANK1	ENSG00000089091.17	transcript	ENST00000699568.1	protein_coding					1501		chr20	TogoVar
DZIP1L_chr3_138056990_138120608	138095296	TTGACAGT others(2): Show TTGACAGTAC	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01123.hp1 HG02258.hp2 others(7): Show HG00735.hp2 HG01123.hp1 HG02258.hp2 HG02615.hp2 HG03041.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03579.hp2 HG06807.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0010 a0003c0004t0011 a0003c0004t0001 a0003c0004t0010 a0003c0004t0011	a0003c0004t0001g0029 a0003c0004t0001g0067 a0003c0004t0001g0130 others(6): Show a0003c0004t0001g0029 a0003c0004t0001g0067 a0003c0004t0001g0130 a0003c0004t0001g0131 a0003c0004t0001g0133 a0003c0004t0001g0135 a0003c0004t0001g0136 a0003c0004t0010g0036 a0003c0004t0011g0132	10	310	0.0323	-9	c.587 others(24): Show c.587-322_587-314delGTACTGTCA		DZIP1L	ENSG00000158163.15	transcript	ENST00000327532.7	protein_coding	3/15						chr3	TogoVar
E2F3_chr6_20396879_20498714	20402363	TCGCCGCC others(2): Show TCGCCGCCGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01255.hp1 HG02723.hp1 HG02809.hp1 others(1): Show HG01255.hp1 HG02723.hp1 HG02809.hp1 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0001 a0002c0002t0003	a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 others(1): Show a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0003g0091	4	333	0.0120	-9	c.141 others(16): Show c.141_149delCGCCGCCGC	p.Ala others(11): Show p.Ala48_Ala50del	E2F3	ENSG00000112242.16	transcript	ENST00000346618.8	protein_coding	1/7	495/5036	141/1398	47/465		INFO_REALIGN_3_PRIME	chr6	TogoVar
E2F3_chr6_20396879_20498714	20462859	CTTTTTTT others(2): Show CTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00408.hp2 others(63): Show HG00140.hp1 HG00280.hp1 HG00408.hp2 HG00438.hp2 HG00597.hp2 HG00738.hp2 HG01071.hp1 HG01168.hp1 HG01169.hp1 HG01192.hp1 HG01256.hp2 HG01258.hp2 HG01358.hp2 HG01516.hp2 HG01943.hp1 HG01978.hp1 HG02015.hp2 HG02040.hp1 HG02129.hp1 HG02148.hp2 HG02300.hp2 HG02683.hp1 HG03195.hp1 HG03239.hp2 HG03491.hp1 HG03704.hp1 HG03927.hp1 HG04115.hp1 HG04199.hp1 HG06807.hp2 NA18940.hp2 NA18943.hp1 NA18944.hp2 NA18946.hp2 NA18948.hp1 NA18950.hp1 NA18953.hp2 NA18962.hp2 NA18966.hp1 NA18970.hp2 NA18971.hp2 NA18974.hp2 NA18984.hp1 NA18986.hp1 NA18990.hp2 NA18995.hp2 NA18997.hp2 NA18999.hp1 NA19001.hp2 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19009.hp2 NA19011.hp2 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp2 NA19070.hp2 NA19074.hp1 NA19079.hp1 NA19084.hp2 NA19090.hp1 NA20300.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015	a0001c0001t0001g0030 a0001c0001t0001g0046 a0001c0001t0001g0049 others(62): Show a0001c0001t0001g0030 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0139 a0001c0001t0001g0143 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0210 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0235 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0285 a0001c0001t0001g0289 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0304 a0001c0001t0001g0326 a0001c0001t0002g0011 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0190 a0001c0001t0002g0193 a0001c0001t0002g0199 a0001c0001t0002g0233 a0001c0001t0004g0053 a0001c0001t0004g0197 a0001c0001t0004g0259 a0001c0001t0005g0004 a0001c0001t0005g0078 a0001c0001t0005g0136 a0001c0001t0005g0163 a0001c0001t0005g0294 a0001c0001t0009g0274 a0001c0001t0009g0286 a0001c0001t0010g0222 a0001c0001t0010g0225 a0001c0001t0014g0218 a0001c0001t0015g0192	66	85	0.7765	-9	c.394 others(28): Show c.394-16958_394-16950delTTTTTTTTT		E2F3	ENSG00000112242.16	transcript	ENST00000346618.8	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr6	TogoVar
E2F4_chr16_67187155_67203918	67195890	ACAGCAGC others(2): Show ACAGCAGCAG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02055.hp2 HG02559.hp1 HG02970.hp1 others(1): Show HG02055.hp2 HG02559.hp1 HG02970.hp1 HG03486.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0001 a0004c0005t0001g0001	4	291	0.0137	-9	c.950 others(16): Show c.950_958delGCAGCAGCA	p.Ser others(13): Show p.Ser317_Ser319del	E2F4	ENSG00000205250.9	transcript	ENST00000379378.8	protein_coding	7/10	1023/2110	950/1242	317/413		INFO_REALIGN_3_PRIME	chr16	TogoVar
E2F5_chr8_85172154_85219518	85199543	AGTGGTGG others(2): Show AGTGGTGGTG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(170): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00423.hp1 HG00438.hp2 HG00597.hp1 HG00609.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01175.hp2 HG01192.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02145.hp1 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02896.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03704.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18943.hp2 NA18946.hp2 NA18948.hp1 NA18951.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18970.hp2 NA18971.hp1 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18988.hp2 NA18989.hp1 NA18993.hp2 NA18994.hp1 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19003.hp1 NA19010.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp2 NA19059.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp2 NA19070.hp2 NA19075.hp2 NA19077.hp2 NA19082.hp2 NA19086.hp2 NA19089.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0002 a0004c0006 others(1): Show a0001c0001 a0001c0002 a0004c0006 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0004c0006t0001 a0005c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(121): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0040 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0002g0021 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0166 a0001c0002t0001g0189 a0001c0002t0001g0228 a0004c0006t0001g0064 a0005c0007t0001g0003	173	334	0.5180	-9	c.235 others(26): Show c.235-2590_235-2582delTGGTGGTGG		E2F5	ENSG00000133740.11	transcript	ENST00000416274.7	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr8	TogoVar
EBF1_chr5_158690920_159104916	158729384	CTGGGAAC others(2): Show CTGGGAACAA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00738.hp1 HG00741.hp2 others(12): Show HG00642.hp1 HG00738.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01168.hp1 HG01257.hp1 HG01361.hp1 HG01934.hp1 HG02486.hp2 HG03710.hp2 HG04184.hp1 NA18954.hp2 NA19009.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0004 a0001c0001t0012 a0001c0001t0037 others(5): Show a0001c0001t0004 a0001c0001t0012 a0001c0001t0037 a0001c0001t0040 a0001c0001t0055 a0001c0002t0004 a0001c0002t0012 a0001c0004t0004	a0001c0001t0004g0091 a0001c0001t0004g0092 a0001c0001t0004g0094 others(12): Show a0001c0001t0004g0091 a0001c0001t0004g0092 a0001c0001t0004g0094 a0001c0001t0004g0106 a0001c0001t0004g0125 a0001c0001t0004g0134 a0001c0001t0004g0153 a0001c0001t0012g0011 a0001c0001t0012g0021 a0001c0001t0037g0024 a0001c0001t0040g0026 a0001c0001t0055g0047 a0001c0002t0004g0162 a0001c0002t0012g0023 a0001c0004t0004g0171	15	196	0.0765	-9	c.112 others(28): Show c.1125+1676_1125+1684delTTGTTCCCA		EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	11/15						chr5	TogoVar
EBF2_chr8_25836725_26050413	25866484	AATATATA others(2): Show AATATATAAT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02280.hp2 HG03471.hp1 others(3): Show HG00639.hp1 HG02280.hp2 HG03471.hp1 HG06807.hp1 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0013 a0001c0002t0033 a0001c0002t0011 a0001c0002t0013 a0001c0002t0033	a0001c0002t0011g0199 a0001c0002t0011g0212 a0001c0002t0011g0219 others(3): Show a0001c0002t0011g0199 a0001c0002t0011g0212 a0001c0002t0011g0219 a0001c0002t0013g0015 a0001c0002t0013g0099 a0001c0002t0033g0158	6	218	0.0275	-9	c.101 others(28): Show c.1010-3696_1010-3688delATTATATAT		EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	10/15						chr8	TogoVar
EBF2_chr8_25836725_26050413	25872679	AAACAACA others(2): Show AAACAACAAC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00597.hp1 others(51): Show HG00140.hp1 HG00323.hp1 HG00597.hp1 HG00621.hp1 HG00735.hp1 HG00738.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01109.hp2 HG01123.hp2 HG01255.hp1 HG01256.hp1 HG01346.hp1 HG01515.hp1 HG01891.hp2 HG01978.hp1 HG02015.hp2 HG02056.hp2 HG02129.hp1 HG02165.hp2 HG02451.hp1 HG02602.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02896.hp2 HG02922.hp1 HG03130.hp2 HG03139.hp2 HG03225.hp1 HG03490.hp1 HG03492.hp1 HG03654.hp1 HG03704.hp1 HG03710.hp2 HG04115.hp1 HG04204.hp2 HG06807.hp1 NA18906.hp1 NA18947.hp2 NA18950.hp2 NA18953.hp2 NA18964.hp2 NA19030.hp2 NA19063.hp1 NA19065.hp1 NA19068.hp2 NA19070.hp2 NA19087.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0037 a0001c0001t0042 a0001c0002t0001 a0001c0002t0013 a0002c0003t0005	a0001c0001t0001g0032 a0001c0001t0001g0037 a0001c0001t0002g0012 others(51): Show a0001c0001t0001g0032 a0001c0001t0001g0037 a0001c0001t0002g0012 a0001c0001t0002g0016 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0025 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0052 a0001c0001t0002g0056 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0066 a0001c0001t0002g0076 a0001c0001t0002g0081 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0111 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0122 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0131 a0001c0001t0002g0137 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0147 a0001c0001t0006g0163 a0001c0001t0006g0181 a0001c0001t0006g0182 a0001c0001t0006g0183 a0001c0001t0006g0190 a0001c0001t0006g0191 a0001c0001t0006g0196 a0001c0001t0006g0203 a0001c0001t0006g0214 a0001c0001t0028g0113 a0001c0001t0029g0144 a0001c0001t0030g0116 a0001c0001t0037g0160 a0001c0001t0042g0220 a0001c0002t0001g0108 a0001c0002t0013g0015 a0002c0003t0005g0100	54	168	0.3214	-9	c.101 others(28): Show c.1010-9891_1010-9883delGTTGTTGTT		EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	10/15						chr8	TogoVar
EBF2_chr8_25836725_26050413	25907419	CAAAAAAA others(2): Show CAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02280.hp2 HG03471.hp1 others(3): Show HG01106.hp2 HG02280.hp2 HG03471.hp1 NA18946.hp2 NA19003.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0001 a0001c0002t0011 others(1): Show a0001c0001t0004 a0001c0002t0001 a0001c0002t0011 a0001c0002t0033	a0001c0001t0004g0031 a0001c0001t0004g0075 a0001c0002t0001g0036 others(3): Show a0001c0001t0004g0031 a0001c0001t0004g0075 a0001c0002t0001g0036 a0001c0002t0001g0123 a0001c0002t0011g0199 a0001c0002t0033g0158	6	29	0.2069	-9	c.633 others(26): Show c.633+1046_633+1054delTTTTTTTTT		EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	7/15						chr8	TogoVar
EBF2_chr8_25836725_26050413	25985835	CTACAAAA others(2): Show CTACAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02965.hp1 NA20300.hp1 HG01891.hp2 HG02965.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0019 a0001c0001t0002 a0001c0001t0003 a0001c0001t0019	a0001c0001t0002g0147 a0001c0001t0003g0201 a0001c0001t0019g0009 a0001c0001t0002g0147 a0001c0001t0003g0201 a0001c0001t0019g0009	3	218	0.0138	-9	c.551 others(28): Show c.551+47241_551+47249delTTTTTTGTA		EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15						chr8	TogoVar
EBF3_chr10_129830233_129969274	129889946	CTTTTTTT others(2): Show CTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02451.hp1 HG02615.hp2 others(4): Show HG02109.hp2 HG02451.hp1 HG02615.hp2 HG02818.hp1 HG02895.hp1 NA19240.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0011 others(2): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0011 a0001c0001t0019 a0001c0001t0023	a0001c0001t0001g0009 a0001c0001t0001g0283 a0001c0001t0007g0267 others(4): Show a0001c0001t0001g0009 a0001c0001t0001g0283 a0001c0001t0007g0267 a0001c0001t0007g0272 a0001c0001t0011g0246 a0001c0001t0019g0111 a0001c0001t0023g0271	7	131	0.0534	-9	c.555 others(28): Show c.555-12106_555-12098delAAAAAAAAA		EBF3	ENSG00000108001.16	transcript	ENST00000440978.2	protein_coding	6/16						chr10	TogoVar
EBF3_chr10_129830233_129969274	129934235	TGAAGACC others(2): Show TGAAGACCCC	T T	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02257.hp1 HG02647.hp1 others(5): Show HG01175.hp2 HG02257.hp1 HG02647.hp1 HG02723.hp1 HG03130.hp1 HG03471.hp2 HG03486.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0017 a0001c0001t0025 a0001c0001t0049 a0001c0001t0052	a0001c0001t0001g0190 a0001c0001t0002g0006 a0001c0001t0004g0098 others(5): Show a0001c0001t0001g0190 a0001c0001t0002g0006 a0001c0001t0004g0098 a0001c0001t0007g0276 a0001c0001t0017g0219 a0001c0001t0025g0333 a0001c0001t0049g0321 a0001c0001t0052g0323	8	335	0.0239	-9	c.554 others(28): Show c.554+23014_554+23022delGGGGTCTTC		EBF3	ENSG00000108001.16	transcript	ENST00000440978.2	protein_coding	6/16						chr10	TogoVar
EBF4_chr20_2687780_2765108	2711148	AAATAATA others(2): Show AAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00741.hp2 HG01074.hp2 others(20): Show HG00140.hp1 HG00741.hp2 HG01074.hp2 HG01106.hp2 HG01109.hp1 HG01258.hp1 HG01361.hp2 HG01515.hp2 HG01934.hp2 HG01981.hp2 HG01993.hp1 HG02145.hp1 HG02148.hp1 HG02258.hp1 HG02300.hp2 HG02630.hp2 HG02896.hp2 HG02897.hp2 HG03225.hp1 HG03490.hp2 NA18906.hp2 NA19240.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0003t0001 a0001c0004t0003 a0001c0004t0014	a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0262 others(19): Show a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0262 a0001c0001t0001g0328 a0001c0001t0001g0363 a0001c0001t0002g0005 a0001c0001t0002g0023 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0004g0216 a0001c0001t0004g0217 a0001c0001t0004g0218 a0001c0001t0004g0222 a0001c0002t0001g0356 a0001c0002t0001g0362 a0001c0003t0001g0364 a0001c0004t0003g0173 a0001c0004t0014g0312	23	171	0.1345	-9	c.557 others(26): Show c.557+1530_557+1538delTAATAATAA		EBF4	ENSG00000088881.22	transcript	ENST00000609451.6	protein_coding	6/16					INFO_REALIGN_3_PRIME	chr20	TogoVar
EBF4_chr20_2687780_2765108	2746648	GTTTGCAG others(2): Show GTTTGCAGAC	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02809.hp2 HG02895.hp1 others(2): Show HG02630.hp1 HG02809.hp2 HG02895.hp1 HG02897.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0147 others(2): Show a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0147 a0001c0001t0001g0151 a0001c0002t0001g0263	5	386	0.0130	-9	c.558 others(26): Show c.558-1896_558-1888delCAGACTTTG		EBF4	ENSG00000088881.22	transcript	ENST00000609451.6	protein_coding	6/16					INFO_REALIGN_3_PRIME	chr20	TogoVar
EBLN2_chr3_73056659_73068337	73058101	CTTAAAAA others(2): Show CTTAAAAATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG00741.hp1 HG01069.hp2 others(84): Show HG00735.hp1 HG00741.hp1 HG01069.hp2 HG01071.hp1 HG01081.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01255.hp1 HG01255.hp2 HG01517.hp2 HG01928.hp1 HG01934.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02083.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02293.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02965.hp2 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03831.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp2 NA18522.hp1 NA18943.hp2 NA18947.hp1 NA18960.hp2 NA18984.hp2 NA19030.hp2 NA19043.hp2 NA19058.hp1 NA19068.hp2 NA19088.hp2 NA19089.hp1 NA19091.hp1 NA20129.hp2 NA20300.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0003c0003t0002 a0003c0003t0005 others(4): Show a0002c0002t0002 a0003c0003t0002 a0003c0003t0005 a0003c0003t0008 a0003c0003t0011 a0003c0003t0019 a0003c0003t0024	a0002c0002t0002g0000 a0003c0003t0002g0000 a0003c0003t0005g0000 others(4): Show a0002c0002t0002g0000 a0003c0003t0002g0000 a0003c0003t0005g0000 a0003c0003t0008g0000 a0003c0003t0011g0000 a0003c0003t0019g0000 a0003c0003t0024g0000	87	426	0.2042	-9	c.-39 others(20): Show c.-3980_-3972delTTAAAAATA		EBLN2	ENSG00000255423.1	transcript	ENST00000533473.1	protein_coding					3557		chr3	TogoVar
ECD_chr10_73128668_73173008	73136954	AATTATTA others(2): Show AATTATTATT	A A	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG04115.hp2 HG02698.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	2	164	0.0122	-9	c.149 others(24): Show c.1490-45_1490-37delAATAATAAT		ECD	ENSG00000122882.11	transcript	ENST00000372979.9	protein_coding	12/13						chr10	TogoVar
ECE2_chr3_184271022_184298031	184288309	CAAAAAAA others(2): Show CAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01123.hp2 HG01243.hp2 others(7): Show HG01074.hp1 HG01123.hp2 HG01243.hp2 HG01516.hp1 HG01884.hp2 HG02615.hp1 HG02886.hp2 HG03041.hp2 HG03195.hp1 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0006 a0001c0002t0001g0146 a0001c0002t0003g0006 others(1): Show a0001c0002t0001g0006 a0001c0002t0001g0146 a0001c0002t0003g0006 a0001c0002t0003g0127	10	93	0.1075	-9	c.137 others(26): Show c.1374+376_1374+384delAAAAAAAAA		ECE2	ENSG00000145194.19	transcript	ENST00000404464.8	protein_coding	11/18					INFO_REALIGN_3_PRIME	chr3	TogoVar
ECHDC3_chr10_11737382_11769070	11746328	CAAAAAAA others(2): Show CAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02486.hp1 HG03710.hp2 others(3): Show HG01109.hp1 HG02486.hp1 HG03710.hp2 NA18993.hp1 NA19011.hp2 NA20300.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0003 a0001c0005 a0003c0026 others(1): Show a0001c0003 a0001c0005 a0003c0026 a0005c0009	a0001c0003t0001 a0001c0005t0001 a0003c0026t0001 others(1): Show a0001c0003t0001 a0001c0005t0001 a0003c0026t0001 a0005c0009t0001	a0001c0003t0001g0062 a0001c0005t0001g0032 a0003c0026t0001g0088 others(1): Show a0001c0003t0001g0062 a0001c0005t0001g0032 a0003c0026t0001g0088 a0005c0009t0001g0185	6	16	0.3750	-9	c.171 others(25): Show c.171-1002_171-994delAAAAAAAAA		ECHDC3	ENSG00000134463.15	transcript	ENST00000379215.9	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr10	TogoVar
ECM2_chr9_92490315_92540990	92533329	ATATATAT others(2): Show ATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01256.hp2 NA18946.hp1 NA18967.hp1 others(3): Show HG01256.hp2 NA18946.hp1 NA18967.hp1 NA18970.hp1 NA18990.hp1 NA19059.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0204 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0204 a0001c0001t0001g0207	6	384	0.0156	-9	c.-28 others(26): Show c.-28+2595_-28+2603delATATATATA		ECM2	ENSG00000106823.13	transcript	ENST00000344604.10	protein_coding	1/9						chr9	TogoVar
ECPAS_chr9_111355685_111489383	111356883	CAAAAAAA others(2): Show CAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02451.hp2 HG02486.hp1 others(3): Show HG01884.hp2 HG02451.hp2 HG02486.hp1 HG02717.hp1 HG02809.hp1 HG03225.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0013 a0002c0006t0001g0297 a0002c0006t0001g0298 others(2): Show a0002c0006t0001g0013 a0002c0006t0001g0297 a0002c0006t0001g0298 a0002c0006t0001g0299 a0002c0006t0001g0300	6	181	0.0331	-9	c.51 others(20): Show c.5138_*5146delTTTTTTTTT		ECPAS	ENSG00000136813.15	transcript	ENST00000684092.1	protein_coding					3801		chr9	TogoVar
ECPAS_chr9_111355685_111489383	111365288	TATCATCA others(2): Show TATCATCATC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00544.hp2 HG00558.hp1 others(69): Show HG00280.hp2 HG00544.hp2 HG00558.hp1 HG00733.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01358.hp1 HG01952.hp2 HG01978.hp2 HG01993.hp2 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02109.hp1 HG02135.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02486.hp2 HG02523.hp2 HG02622.hp1 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG03130.hp1 HG03209.hp2 HG03490.hp1 HG03654.hp1 HG03669.hp2 HG03942.hp1 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18949.hp1 NA18952.hp1 NA18954.hp1 NA18955.hp2 NA18956.hp2 NA18960.hp2 NA18963.hp2 NA18964.hp2 NA18967.hp1 NA18974.hp2 NA18983.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp2 NA18990.hp1 NA18991.hp1 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19005.hp2 NA19007.hp2 NA19012.hp1 NA19060.hp2 NA19062.hp2 NA19065.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19075.hp2 NA19081.hp1 NA19083.hp2 NA19085.hp2 NA19087.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0001 a0001c0001t0010 a0001c0013t0001 a0001c0001t0001 a0001c0001t0010 a0001c0013t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0150 others(67): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0150 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0243 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0010g0340 a0001c0013t0001g0231	72	197	0.3655	-9	c.530 others(26): Show c.5308+942_5308+950delGATGATGAT		ECPAS	ENSG00000136813.15	transcript	ENST00000684092.1	protein_coding	48/49						chr9	TogoVar
ECPAS_chr9_111355685_111489383	111383968	TATCATCA others(2): Show TATCATCATC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00639.hp2 others(28): Show HG00099.hp1 HG00323.hp2 HG00639.hp2 HG00642.hp1 HG00735.hp2 HG01069.hp1 HG01081.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01258.hp2 HG01261.hp1 HG01361.hp2 HG01515.hp1 HG01517.hp1 HG02055.hp1 HG02615.hp2 HG03017.hp2 HG03239.hp1 HG03669.hp1 HG03704.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG04115.hp1 HG04184.hp1 HG06807.hp1 NA20129.hp1 NA20905.hp1	a0002 a0008 a0002 a0008	a0002c0002 a0008c0014 a0002c0002 a0008c0014	a0002c0002t0001 a0002c0002t0005 a0008c0014t0001 a0002c0002t0001 a0002c0002t0005 a0008c0014t0001	a0002c0002t0001g0008 a0002c0002t0001g0122 a0002c0002t0001g0123 others(27): Show a0002c0002t0001g0008 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0333 a0002c0002t0001g0334 a0002c0002t0005g0014 a0008c0014t0001g0335	31	146	0.2123	-9	c.368 others(26): Show c.3681+545_3681+553delGATGATGAT		ECPAS	ENSG00000136813.15	transcript	ENST00000684092.1	protein_coding	34/49						chr9	TogoVar
ECPAS_chr9_111355685_111489383	111407403	GAAAAAAA others(2): Show GAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG04184.hp1 NA18944.hp1 others(7): Show HG03831.hp2 HG04184.hp1 NA18944.hp1 NA18948.hp2 NA18990.hp1 NA19002.hp1 NA19007.hp2 NA19060.hp2 NA19065.hp2 NA19083.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0177 a0001c0001t0001g0195 a0001c0001t0001g0201 others(7): Show a0001c0001t0001g0177 a0001c0001t0001g0195 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0218 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0002c0002t0001g0125 a0002c0002t0001g0143	10	121	0.0826	-9	c.265 others(28): Show c.2652+1159_2652+1167delTTTTTTTTT		ECPAS	ENSG00000136813.15	transcript	ENST00000684092.1	protein_coding	24/49						chr9	TogoVar
ECRG4_chr2_106060688_106083155	106071322	TAAAAAAA others(2): Show TAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00639.hp2 others(13): Show HG00140.hp1 HG00140.hp2 HG00639.hp2 HG01074.hp1 HG01123.hp1 HG01123.hp2 HG01261.hp2 HG02145.hp1 HG02451.hp2 HG02572.hp2 HG02735.hp1 HG02809.hp2 HG03130.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0002c0004t0001	a0001c0001t0001g0172 a0001c0001t0001g0180 a0001c0001t0001g0181 others(12): Show a0001c0001t0001g0172 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0186 a0001c0001t0001g0198 a0001c0001t0001g0268 a0001c0001t0003g0194 a0001c0002t0001g0033 a0001c0002t0001g0088 a0002c0004t0001g0114 a0002c0004t0001g0133 a0002c0004t0001g0145 a0002c0004t0001g0149 a0002c0004t0001g0195 a0002c0004t0001g0267	16	48	0.3333	-9	c.80- others(22): Show c.80-500_80-492delAAAAAAAAA		ECRG4	ENSG00000119147.10	transcript	ENST00000238044.8	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr2	TogoVar
ECT2L_chr6_138791087_138909070	138857672	CACCTCAG others(2): Show CACCTCAGTG	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02559.hp1 HG02970.hp1 others(2): Show HG02486.hp2 HG02559.hp1 HG02970.hp1 HG03540.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0008 a0001c0001t0017 others(2): Show a0001c0001t0007 a0001c0001t0008 a0001c0001t0017 a0001c0001t0020 a0001c0001t0029	a0001c0001t0007g0006 a0001c0001t0008g0250 a0001c0001t0017g0316 others(2): Show a0001c0001t0007g0006 a0001c0001t0008g0250 a0001c0001t0017g0316 a0001c0001t0020g0007 a0001c0001t0029g0262	5	324	0.0154	-9	c.119 others(28): Show c.1198+3519_1198+3527delACCTCAGTG		ECT2L	ENSG00000203734.13	transcript	ENST00000541398.7	protein_coding	10/21						chr6	TogoVar
ECT2L_chr6_138791087_138909070	138890492	CTTTTTTT others(2): Show CTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01261.hp2 HG02293.hp1 others(7): Show HG00741.hp1 HG01261.hp2 HG02293.hp1 HG02630.hp1 HG02717.hp2 HG02723.hp1 HG02896.hp1 HG03486.hp1 NA18957.hp2 NA19072.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0008 a0007c0012 a0001c0001 a0007c0008 a0007c0012	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0016 a0007c0008t0014 a0007c0012t0003	a0001c0001t0002g0174 a0001c0001t0002g0203 a0001c0001t0003g0134 others(7): Show a0001c0001t0002g0174 a0001c0001t0002g0203 a0001c0001t0003g0134 a0001c0001t0003g0215 a0001c0001t0005g0289 a0001c0001t0016g0211 a0001c0001t0016g0212 a0007c0008t0014g0013 a0007c0008t0014g0237 a0007c0012t0003g0239	10	24	0.4167	-9	c.241 others(28): Show c.2414+1481_2414+1489delTTTTTTTTT		ECT2L	ENSG00000203734.13	transcript	ENST00000541398.7	protein_coding	20/21					INFO_REALIGN_3_PRIME	chr6	TogoVar
ECT2_chr3_172745726_172826474	172776191	GTTTTTTC others(2): Show GTTTTTTCTT	G G	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00673.hp1 HG02132.hp2 others(34): Show HG00621.hp2 HG00673.hp1 HG02132.hp2 HG02523.hp1 HG02622.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp1 NA18942.hp2 NA18946.hp1 NA18951.hp2 NA18952.hp1 NA18957.hp1 NA18959.hp2 NA18968.hp1 NA18969.hp2 NA18971.hp2 NA18972.hp2 NA18981.hp1 NA18984.hp2 NA18987.hp1 NA18988.hp2 NA18993.hp2 NA18994.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp2 NA19001.hp1 NA19005.hp1 NA19054.hp1 NA19063.hp2 NA19067.hp1 NA19068.hp1 NA19072.hp2 NA19083.hp2 NA19086.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0009 a0001c0001t0003g0029 others(27): Show a0001c0001t0003g0006 a0001c0001t0003g0009 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0209 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0232 a0001c0001t0003g0233 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0003g0256	37	307	0.1205	-9	c.154 others(28): Show c.1548+2176_1548+2184delCTTTTTTTT		ECT2	ENSG00000114346.14	transcript	ENST00000392692.8	protein_coding	14/24					INFO_REALIGN_3_PRIME	chr3	TogoVar
ECT2_chr3_172745726_172826474	172776198	CTTTTTTT others(2): Show CTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01255.hp1 HG02486.hp2 others(19): Show HG01192.hp1 HG01255.hp1 HG02486.hp2 HG02572.hp2 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02922.hp1 HG02970.hp1 HG03195.hp2 HG03209.hp2 HG03453.hp1 HG03486.hp2 HG03516.hp1 HG03579.hp1 NA18906.hp1 NA19030.hp2 NA20129.hp2 NA20300.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0006 a0004c0005 a0001c0001 a0001c0006 a0004c0005	a0001c0001t0001 a0001c0001t0004 a0001c0006t0004 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0006t0004 a0004c0005t0004	a0001c0001t0001g0106 a0001c0001t0004g0031 a0001c0001t0004g0032 others(18): Show a0001c0001t0001g0106 a0001c0001t0004g0031 a0001c0001t0004g0032 a0001c0001t0004g0237 a0001c0001t0004g0238 a0001c0001t0004g0239 a0001c0001t0004g0240 a0001c0001t0004g0241 a0001c0001t0004g0242 a0001c0001t0004g0243 a0001c0001t0004g0245 a0001c0001t0004g0246 a0001c0001t0004g0249 a0001c0001t0004g0250 a0001c0001t0004g0251 a0001c0001t0004g0252 a0001c0001t0004g0253 a0001c0001t0004g0254 a0001c0006t0004g0244 a0004c0005t0004g0247 a0004c0005t0004g0248	22	154	0.1429	-9	c.154 others(28): Show c.1548+2191_1548+2199delTTTTTTTTT		ECT2	ENSG00000114346.14	transcript	ENST00000392692.8	protein_coding	14/24					INFO_REALIGN_3_PRIME	chr3	TogoVar
EDARADD_chr1_236389286_236489930	236405781	CTTTCTTT others(2): Show CTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01891.hp2 HG01975.hp2 others(12): Show HG00597.hp2 HG01891.hp2 HG01975.hp2 HG02055.hp1 HG02683.hp1 HG02717.hp1 HG03209.hp2 HG03710.hp1 HG04184.hp1 NA18939.hp1 NA18967.hp1 NA18970.hp1 NA18975.hp2 NA19082.hp1 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0003t0001 a0001c0003t0002 a0001c0004t0005 a0002c0002t0004 a0002c0002t0017	a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0088 others(12): Show a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0096 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0208 a0001c0001t0001g0216 a0001c0001t0004g0091 a0001c0001t0010g0087 a0001c0003t0001g0037 a0001c0003t0002g0038 a0001c0004t0005g0092 a0002c0002t0004g0271 a0002c0002t0017g0233	15	284	0.0528	-9	c.62- others(24): Show c.62-3427_62-3419delCTTTTCTTT		EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
EDAR_chr2_108889471_108994220	108890232	CTTTTTTT others(2): Show CTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00738.hp1 others(33): Show HG00099.hp1 HG00408.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01168.hp1 HG01169.hp2 HG01358.hp1 HG01516.hp1 HG01891.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02717.hp2 HG02723.hp1 HG02818.hp1 HG02895.hp1 HG02896.hp2 HG03098.hp1 HG03492.hp2 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03927.hp2 HG04115.hp2 HG04199.hp2 NA18945.hp1 NA18970.hp1 NA18974.hp2 NA18984.hp2 NA18994.hp1 NA18997.hp1 NA18998.hp1 NA19011.hp2 NA19240.hp1 NA20752.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0006c0012	a0001c0001t0002 a0001c0002t0004 a0001c0002t0007 others(5): Show a0001c0001t0002 a0001c0002t0004 a0001c0002t0007 a0001c0002t0009 a0001c0002t0012 a0001c0002t0017 a0001c0004t0003 a0006c0012t0004	a0001c0001t0002g0031 a0001c0001t0002g0092 a0001c0001t0002g0211 others(33): Show a0001c0001t0002g0031 a0001c0001t0002g0092 a0001c0001t0002g0211 a0001c0002t0004g0035 a0001c0002t0004g0078 a0001c0002t0004g0086 a0001c0002t0004g0087 a0001c0002t0004g0095 a0001c0002t0004g0102 a0001c0002t0004g0110 a0001c0002t0004g0111 a0001c0002t0004g0115 a0001c0002t0004g0117 a0001c0002t0004g0120 a0001c0002t0004g0154 a0001c0002t0004g0155 a0001c0002t0004g0156 a0001c0002t0004g0157 a0001c0002t0004g0172 a0001c0002t0004g0180 a0001c0002t0004g0185 a0001c0002t0004g0197 a0001c0002t0007g0059 a0001c0002t0007g0060 a0001c0002t0007g0080 a0001c0002t0007g0082 a0001c0002t0007g0145 a0001c0002t0007g0146 a0001c0002t0009g0114 a0001c0002t0012g0010 a0001c0002t0012g0103 a0001c0002t0012g0124 a0001c0002t0012g0128 a0001c0002t0017g0012 a0001c0004t0003g0101 a0006c0012t0004g0113	36	47	0.7660	-9	c.66 others(20): Show c.6666_*6674delAAAAAAAAA		EDAR	ENSG00000135960.10	transcript	ENST00000258443.7	protein_coding					4238		chr2	TogoVar
EDA_chrX_69611113_70044472	69782366	TAAAAAAA others(2): Show TAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00639.hp1 others(26): Show HG00099.hp2 HG00280.hp1 HG00639.hp1 HG00642.hp1 HG00735.hp1 HG01071.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01123.hp1 HG01168.hp1 HG01346.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG02080.hp2 HG02572.hp1 HG02698.hp1 HG02735.hp1 HG02976.hp1 HG03669.hp1 HG03688.hp1 HG03834.hp1 HG03942.hp1 HG04115.hp1 NA18906.hp1 NA19240.hp1 NA20805.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009	a0001c0001t0001g0001 a0001c0001t0001g0097 a0001c0001t0001g0200 others(25): Show a0001c0001t0001g0001 a0001c0001t0001g0097 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0002g0074 a0001c0001t0002g0078 a0001c0001t0002g0201 a0001c0001t0002g0218 a0001c0001t0003g0204 a0001c0001t0003g0209 a0001c0001t0003g0213 a0001c0001t0003g0217 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0005g0205 a0001c0001t0009g0216	29	132	0.2197	-9	c.396 others(30): Show c.396+165680_396+165688delAAAAAAAAA		EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7					INFO_REALIGN_3_PRIME	chrX	TogoVar
EDEM1_chr3_5182707_5224958	5223716	CTTTTTTT others(2): Show CTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00438.hp1 others(95): Show HG00140.hp1 HG00280.hp1 HG00438.hp1 HG00597.hp1 HG00597.hp2 HG00639.hp2 HG00735.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01099.hp1 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01346.hp1 HG01433.hp1 HG01433.hp2 HG01516.hp1 HG01517.hp1 HG01928.hp1 HG01934.hp2 HG01952.hp2 HG01978.hp2 HG01993.hp2 HG02056.hp1 HG02071.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02155.hp1 HG02615.hp1 HG02615.hp2 HG02698.hp2 HG03017.hp2 HG03453.hp1 HG03486.hp1 HG03516.hp2 HG03704.hp1 HG03942.hp2 HG04184.hp1 NA18747.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18946.hp2 NA18950.hp1 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18956.hp1 NA18961.hp2 NA18962.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18970.hp1 NA18974.hp1 NA18975.hp2 NA18980.hp1 NA18982.hp2 NA18984.hp1 NA18985.hp1 NA18989.hp1 NA18990.hp2 NA18992.hp2 NA18993.hp1 NA18995.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19058.hp2 NA19064.hp1 NA19070.hp2 NA19086.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0001c0014 others(1): Show a0001c0001 a0001c0006 a0001c0014 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0043 a0001c0001t0056 a0001c0001t0057 a0001c0001t0063 a0001c0006t0002 a0001c0014t0037 a0002c0003t0001 a0002c0003t0003	a0001c0001t0001g0038 a0001c0001t0001g0114 a0001c0001t0001g0126 others(70): Show a0001c0001t0001g0038 a0001c0001t0001g0114 a0001c0001t0001g0126 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0027 a0001c0001t0002g0034 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0047 a0001c0001t0002g0068 a0001c0001t0002g0095 a0001c0001t0002g0099 a0001c0001t0002g0109 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0136 a0001c0001t0002g0139 a0001c0001t0002g0160 a0001c0001t0002g0167 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0192 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0248 a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0010 a0001c0001t0003g0015 a0001c0001t0003g0020 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0108 a0001c0001t0003g0119 a0001c0001t0003g0128 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0137 a0001c0001t0003g0169 a0001c0001t0003g0173 a0001c0001t0003g0177 a0001c0001t0006g0008 a0001c0001t0009g0022 a0001c0001t0009g0044 a0001c0001t0009g0051 a0001c0001t0009g0053 a0001c0001t0009g0054 a0001c0001t0009g0055 a0001c0001t0009g0056 a0001c0001t0010g0006 a0001c0001t0010g0021 a0001c0001t0010g0046 a0001c0001t0013g0006 a0001c0001t0013g0021 a0001c0001t0013g0052 a0001c0001t0043g0008 a0001c0001t0056g0045 a0001c0001t0057g0050 a0001c0001t0063g0003 a0001c0006t0002g0162 a0001c0014t0037g0067 a0002c0003t0001g0002 a0002c0003t0001g0035 a0002c0003t0003g0002 a0002c0003t0003g0034	98	132	0.7424	-9	c.77 others(20): Show c.7799_*7807delTTTTTTTTT		EDEM1	ENSG00000134109.11	transcript	ENST00000256497.9	protein_coding					3759		chr3	TogoVar
EDEM2_chr20_35110364_35152336	35148711	TCAAAAAA others(2): Show TCAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01891.hp2 HG02040.hp2 others(27): Show HG01109.hp1 HG01891.hp2 HG02040.hp2 HG02109.hp2 HG02145.hp2 HG02257.hp2 HG02280.hp1 HG02486.hp1 HG02615.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02886.hp2 HG02922.hp2 HG02976.hp2 HG03041.hp1 HG03130.hp2 HG03225.hp1 HG03491.hp2 HG03516.hp1 HG03579.hp2 HG04199.hp2 NA18747.hp2 NA19030.hp1 NA19059.hp2 NA19063.hp2 NA19081.hp1 NA19240.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 a0001c0001t0001 a0001c0002t0001 a0001c0005t0001	a0001c0001t0001g0004 a0001c0001t0001g0036 a0001c0001t0001g0037 others(17): Show a0001c0001t0001g0004 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0192 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0207 a0001c0001t0001g0215 a0001c0002t0001g0003 a0001c0002t0001g0016 a0001c0002t0001g0138 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0005t0001g0179	30	204	0.1471	-9	c.-14 others(20): Show c.-1462_-1454delTTTTTTTTG		EDEM2	ENSG00000088298.13	transcript	ENST00000374492.8	protein_coding					1376		chr20	TogoVar
EDIL3_chr5_83935554_84389880	84002298	AGCCATAC others(2): Show AGCCATACGT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01175.hp2 HG01891.hp2 others(13): Show HG00741.hp1 HG01175.hp2 HG01891.hp2 HG02145.hp1 HG02602.hp1 HG02615.hp2 HG02683.hp1 HG02738.hp2 HG02895.hp2 HG02897.hp2 HG03041.hp2 HG03130.hp2 HG03471.hp1 HG03492.hp1 HG03540.hp1 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0003t0001	a0001c0001t0001g0069 a0001c0001t0001g0080 a0001c0001t0002g0035 others(13): Show a0001c0001t0001g0069 a0001c0001t0001g0080 a0001c0001t0002g0035 a0001c0001t0002g0042 a0001c0001t0002g0104 a0001c0001t0003g0119 a0001c0001t0004g0055 a0001c0001t0004g0124 a0001c0001t0005g0147 a0001c0002t0001g0064 a0001c0002t0004g0110 a0001c0002t0005g0032 a0001c0002t0005g0033 a0001c0003t0001g0058 a0001c0003t0001g0090 a0001c0003t0001g0151	16	156	0.1026	-9	c.113 others(30): Show c.1138-38947_1138-38939delACGTATGGC		EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	9/10						chr5	TogoVar
EDIL3_chr5_83935554_84389880	84020761	GAGCATAG others(2): Show GAGCATAGTT	G G	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03486.hp1 HG03098.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0003 a0001c0001t0003 a0001c0003t0003	a0001c0001t0003g0088 a0001c0003t0003g0073 a0001c0001t0003g0088 a0001c0003t0003g0073	2	156	0.0128	-9	c.113 others(30): Show c.1137+39530_1137+39538delAACTATGCT		EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	9/10						chr5	TogoVar
EDIL3_chr5_83935554_84389880	84034800	AGTAATTT others(2): Show AGTAATTTGG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02970.hp1 HG03130.hp1 others(1): Show HG01109.hp1 HG02970.hp1 HG03130.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0020	a0001c0001t0001g0034 a0001c0001t0003g0085 a0001c0001t0006g0150 others(1): Show a0001c0001t0001g0034 a0001c0001t0003g0085 a0001c0001t0006g0150 a0001c0001t0020g0158	4	156	0.0256	-9	c.113 others(30): Show c.1137+25491_1137+25499delCCAAATTAC		EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	9/10						chr5	TogoVar
EDIL3_chr5_83935554_84389880	84080115	CAAAAAAA others(2): Show CAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01167.hp1 HG01243.hp1 others(27): Show HG00558.hp2 HG01167.hp1 HG01243.hp1 HG01256.hp2 HG01258.hp1 HG01346.hp2 HG01358.hp2 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02145.hp2 HG02148.hp2 HG02280.hp1 HG02486.hp1 HG02602.hp1 HG02683.hp1 HG02965.hp1 HG03195.hp2 HG03654.hp1 HG03704.hp2 NA18747.hp1 NA18747.hp2 NA18944.hp2 NA18946.hp2 NA18949.hp2 NA18957.hp2 NA18984.hp1 NA19058.hp1 NA19062.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0002t0001 a0003c0005t0015	a0001c0001t0001g0012 a0001c0001t0001g0019 a0001c0001t0001g0024 others(27): Show a0001c0001t0001g0012 a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0056 a0001c0001t0001g0069 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0115 a0001c0001t0001g0121 a0001c0001t0001g0148 a0001c0001t0002g0018 a0001c0001t0002g0030 a0001c0001t0002g0076 a0001c0001t0002g0100 a0001c0001t0002g0104 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0003g0063 a0001c0001t0003g0116 a0001c0001t0004g0023 a0001c0001t0005g0107 a0001c0001t0006g0040 a0001c0001t0006g0041 a0001c0001t0006g0072 a0001c0001t0008g0091 a0001c0002t0001g0143 a0003c0005t0015g0014	30	42	0.7143	-9	c.652 others(28): Show c.652-13518_652-13510delTTTTTTTTT		EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	6/10						chr5	TogoVar
EDIL3_chr5_83935554_84389880	84356885	CTTTCTTT others(2): Show CTTTCTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02896.hp1 HG03098.hp1 others(2): Show HG02486.hp2 HG02896.hp1 HG03098.hp1 HG03471.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0018 a0001c0001t0019 a0001c0002t0003 others(2): Show a0001c0001t0018 a0001c0001t0019 a0001c0002t0003 a0001c0003t0005 a0001c0004t0010	a0001c0001t0018g0052 a0001c0001t0019g0155 a0001c0002t0003g0051 others(2): Show a0001c0001t0018g0052 a0001c0001t0019g0155 a0001c0002t0003g0051 a0001c0003t0005g0050 a0001c0004t0010g0156	5	155	0.0323	-9	c.67+ others(26): Show c.67+27414_67+27422delAAAAAGAAA		EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	1/10						chr5	TogoVar
EEA1_chr12_92765637_92934295	92786334	GACTTTCA others(2): Show GACTTTCAAT	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02647.hp2 HG03098.hp2 others(3): Show HG02109.hp1 HG02647.hp2 HG03098.hp2 HG03453.hp2 HG03471.hp2 HG03540.hp1	a0001 a0001	a0001c0010 a0001c0011 a0001c0010 a0001c0011	a0001c0010t0006 a0001c0011t0006 a0001c0010t0006 a0001c0011t0006	a0001c0010t0006g0219 a0001c0010t0006g0220 a0001c0010t0006g0221 others(3): Show a0001c0010t0006g0219 a0001c0010t0006g0220 a0001c0010t0006g0221 a0001c0010t0006g0222 a0001c0011t0006g0217 a0001c0011t0006g0223	6	242	0.0248	-9	c.315 others(28): Show c.3150+1524_3150+1532delATTGAAAGT		EEA1	ENSG00000102189.17	transcript	ENST00000322349.13	protein_coding	22/28						chr12	TogoVar
EEA1_chr12_92765637_92934295	92898722	TTTTTTTC others(2): Show TTTTTTTCCC	T T	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03041.hp1 HG03688.hp2 others(7): Show HG02723.hp1 HG03041.hp1 HG03688.hp2 NA18939.hp2 NA18964.hp1 NA19054.hp2 NA19062.hp2 NA19068.hp2 NA19240.hp2 NA20805.hp1	a0004 a0005 a0004 a0005	a0004c0006 a0005c0007 a0004c0006 a0005c0007	a0004c0006t0008 a0004c0006t0021 a0004c0006t0022 others(1): Show a0004c0006t0008 a0004c0006t0021 a0004c0006t0022 a0005c0007t0008	a0004c0006t0008g0002 a0004c0006t0008g0007 a0004c0006t0008g0011 others(7): Show a0004c0006t0008g0002 a0004c0006t0008g0007 a0004c0006t0008g0011 a0004c0006t0021g0012 a0004c0006t0022g0004 a0005c0007t0008g0003 a0005c0007t0008g0005 a0005c0007t0008g0008 a0005c0007t0008g0009 a0005c0007t0008g0010	10	242	0.0413	-9	c.25- others(24): Show c.25-7010_25-7002delGGGAAAAAA		EEA1	ENSG00000102189.17	transcript	ENST00000322349.13	protein_coding	1/28						chr12	TogoVar
EEA1_chr12_92765637_92934295	92912323	TCCTCCCC others(2): Show TCCTCCCCTA	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02896.hp2 HG02897.hp1 others(1): Show HG02895.hp1 HG02896.hp2 HG02897.hp1 HG03209.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0014 a0002c0004t0014	a0002c0004t0014g0240 a0002c0004t0014g0241 a0002c0004t0014g0242 others(1): Show a0002c0004t0014g0240 a0002c0004t0014g0241 a0002c0004t0014g0242 a0002c0004t0014g0243	4	242	0.0165	-9	c.24+ others(26): Show c.24+16711_24+16719delTAGGGGAGG		EEA1	ENSG00000102189.17	transcript	ENST00000322349.13	protein_coding	1/28						chr12	TogoVar
EEF1E1_chr6_8074395_8107548	8101244	ATATATAT others(2): Show ATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00609.hp2 HG00738.hp1 others(18): Show HG00408.hp1 HG00609.hp2 HG00738.hp1 HG00741.hp1 HG01106.hp2 HG01167.hp1 HG01192.hp1 HG01993.hp1 HG02129.hp1 HG02647.hp1 HG02717.hp1 HG02723.hp2 HG02896.hp2 HG03130.hp2 HG03209.hp1 HG03225.hp1 HG03516.hp2 NA18962.hp1 NA18969.hp2 NA18972.hp2 NA19059.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0001 a0003c0002t0001 a0001c0001t0001 a0003c0002t0001	a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0011 others(15): Show a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0201 a0001c0001t0001g0207 a0001c0001t0001g0213 a0001c0001t0001g0219 a0001c0001t0001g0236 a0001c0001t0001g0244 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0261 a0001c0001t0001g0268 a0001c0001t0001g0271 a0001c0001t0001g0277 a0003c0002t0001g0155	21	335	0.0627	-9	c.87+ others(24): Show c.87+1182_87+1190delATATATATA		EEF1E1	ENSG00000124802.12	transcript	ENST00000379715.10	protein_coding	1/3						chr6	TogoVar
EEF2K_chr16_22201278_22293738	22224655	AAAGAAAA others(2): Show AAAGAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01891.hp2 HG02109.hp1 others(12): Show HG01167.hp1 HG01891.hp2 HG02109.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02809.hp2 HG02895.hp1 HG03098.hp1 HG03139.hp1 HG03195.hp2 HG03225.hp1 HG03540.hp2 NA19240.hp2 NA20300.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0002 a0003c0004t0005g0005 a0003c0004t0005g0006 others(11): Show a0003c0004t0005g0002 a0003c0004t0005g0005 a0003c0004t0005g0006 a0003c0004t0005g0007 a0003c0004t0005g0008 a0003c0004t0005g0009 a0003c0004t0005g0010 a0003c0004t0005g0011 a0003c0004t0005g0012 a0003c0004t0005g0013 a0003c0004t0005g0014 a0003c0004t0005g0015 a0003c0004t0005g0016 a0003c0004t0005g0017	15	288	0.0521	-9	c.-76 others(24): Show c.-76-996_-76-988delGAAAAAGAA		EEF2K	ENSG00000103319.12	transcript	ENST00000263026.10	protein_coding	1/17					INFO_REALIGN_3_PRIME	chr16	TogoVar
EEFSEC_chr3_128148481_128413646	128150619	ATATTCTA others(2): Show ATATTCTATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG01496.hp1 HG01516.hp1 others(18): Show HG01255.hp1 HG01496.hp1 HG01516.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG02109.hp1 HG02148.hp1 HG02273.hp1 HG02602.hp1 HG02615.hp2 HG02886.hp2 HG02896.hp1 HG03017.hp2 HG03195.hp2 HG03486.hp1 HG03669.hp2 HG03831.hp2 HG04204.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0007 a0001c0002 a0002c0007	a0001c0002t0001 a0002c0007t0001 a0001c0002t0001 a0002c0007t0001	a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0005 others(18): Show a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0017 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0064 a0001c0002t0001g0065 a0002c0007t0001g0018 a0002c0007t0001g0022	21	270	0.0778	-9	c.-28 others(20): Show c.-2888_-2880delTATTCTATG		EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding					2861		chr3	TogoVar

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