Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DPEP1_chr16_89608642_89643433	89634637	C C	CCCTTTCC others(24): Show CCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCT	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA18612.hp2 HG02027.hp2 NA18612.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0004 a0002c0002t0001 a0002c0002t0004	a0002c0002t0001g0148 a0002c0002t0004g0149 a0002c0002t0001g0148 a0002c0002t0004g0149	2	170	0.0118	31	c.105 others(48): Show c.105-1248_105-1247insTTCCTTCTCCTTTCCCTTCCTTCCCTTT CCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89634737	C C	CCCCTTCC others(24): Show CCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	189	0.0053	31	c.105 others(48): Show c.105-1145_105-1144insCCTTTCCCTTCCTTCTCCTTTCCCTTCC TTC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89635051	T T	TCCTTTCC others(24): Show TCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02083.hp1 NA18984.hp2 HG00609.hp2 HG02083.hp1 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0108 a0001c0001t0001g0124 a0001c0001t0001g0100 a0001c0001t0001g0108 a0001c0001t0001g0124	3	215	0.0140	31	c.105 others(46): Show c.105-842_105-841insCCTTTCCCCTTCCTTCCCTTTCCCTTCCTT C	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89635083	T T	TCCTTTCC others(24): Show TCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTC	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0116 a0002c0002t0001g0116	1	245	0.0041	31	c.105 others(46): Show c.105-810_105-809insCCTTTCCCCTTCCTTCCCTTTCCCTTCCTT C	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89635124	T T	TTCCTTCT others(24): Show TTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	248	0.0040	31	c.105 others(46): Show c.105-783_105-753dupTCCTTCTCCTTTCCCTTCCTTCTCCTTTCC C	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89635219	C C	CCCTCCTT others(24): Show CCCTCCTTCTCCTTTCCCCTTCCTTCTCCTTT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	232	0.0043	31	c.105 others(46): Show c.105-687_105-686insTCCTTCTCCTTTCCCCTTCCTTCTCCTTTC C	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPF3_chr14_72604034_72899101	72756928	A A	AAGAAAGA others(24): Show AAGAAAGAAAGAAAGAAAGAAGAGAAGAGAAG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0082 a0001c0001t0082	a0001c0001t0082g0212 a0001c0001t0082g0212	1	208	0.0048	31	c.194 others(48): Show c.194-3558_194-3557insCTTCTCTTCTCTTCTTTCTTTCTTTCTT TCT	DPF3	ENSG00000205683.12	transcript	ENST00000556509.6	protein_coding	2/10			chr14	TogoVar
DPF3_chr14_72604034_72899101	72838905	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	219	0.0046	31	c.32+ others(48): Show c.32+55151_32+55152insATATATATATATATATATATATATATAT ATA	DPF3	ENSG00000205683.12	transcript	ENST00000556509.6	protein_coding	1/10			chr14	TogoVar
DPH1_chr17_2025153_2048898	2034761	C C	CCTCCCCT others(24): Show CCTCCCCTGCTGCCCCCTCCCCTCCTCCCCCA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00544.hp2 others(118): Show HG00323.hp1 HG00323.hp2 HG00544.hp2 HG00597.hp2 HG00609.hp2 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01109.hp1 HG01123.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02056.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02148.hp1 HG02165.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02602.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp2 HG03130.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03540.hp2 HG03654.hp1 HG03704.hp1 HG03831.hp1 HG03834.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 NA18747.hp1 NA18906.hp2 NA18942.hp2 NA18943.hp2 NA18946.hp2 NA18948.hp1 NA18953.hp2 NA18957.hp2 NA18960.hp1 NA18963.hp1 NA18969.hp2 NA18973.hp1 NA18979.hp1 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18995.hp1 NA18999.hp1 NA19004.hp1 NA19010.hp2 NA19063.hp1 NA19065.hp2 NA19070.hp2 NA19077.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19084.hp2 NA19090.hp1 NA19240.hp1 NA20129.hp2 NA20752.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0006	a0001c0001 a0001c0005 a0002c0003 others(3): Show a0001c0001 a0001c0005 a0002c0003 a0004c0006 a0005c0007 a0006c0008	a0001c0001t0001 a0001c0001t0011 a0001c0001t0012 others(6): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0012 a0001c0005t0001 a0001c0005t0008 a0002c0003t0001 a0004c0006t0001 a0005c0007t0001 a0006c0008t0009	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(66): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0073 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0096 a0001c0001t0001g0102 a0001c0001t0001g0111 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0168 a0001c0001t0001g0192 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0226 a0001c0001t0001g0235 a0001c0001t0011g0195 a0001c0001t0012g0017 a0001c0005t0001g0001 a0001c0005t0001g0004 a0001c0005t0001g0017 a0001c0005t0008g0001 a0002c0003t0001g0001 a0002c0003t0001g0004 a0002c0003t0001g0011 a0002c0003t0001g0012 a0002c0003t0001g0031 a0002c0003t0001g0059 a0002c0003t0001g0060 a0002c0003t0001g0065 a0002c0003t0001g0072 a0002c0003t0001g0080 a0002c0003t0001g0081 a0002c0003t0001g0084 a0002c0003t0001g0085 a0002c0003t0001g0090 a0002c0003t0001g0091 a0004c0006t0001g0003 a0005c0007t0001g0029 a0006c0008t0009g0083	121	216	0.5602	31	c.278 others(46): Show c.278+935_278+965dupCTCCCCTCCTCCCCCACTCCCCTGCTGCCC C	DPH1	ENSG00000108963.19	transcript	ENST00000263083.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
DPH6_chr15_35365880_35551165	35496567	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	55	0.0182	31	c.312 others(50): Show c.312+41706_312+41707insATATATATATTTTTTTTTTTTTTTTT TTTTT	DPH6	ENSG00000134146.12	transcript	ENST00000256538.9	protein_coding	3/8			chr15	TogoVar
DPH6_chr15_35365880_35551165	35496567	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	55	0.0182	31	c.312 others(50): Show c.312+41706_312+41707insATATATATATATTTTTTTTTTTTTTT TTTTT	DPH6	ENSG00000134146.12	transcript	ENST00000256538.9	protein_coding	3/8			chr15	TogoVar
DPM1_chr20_50929870_50963532	50941323	T T	TATATTCA others(24): Show TATATTCATATATATTCGTATTATATATATTC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	2	378	0.0053	31	c.495 others(46): Show c.495-421_495-391dupGAATATATATAATACGAATATATATGAATA T	DPM1	ENSG00000000419.14	transcript	ENST00000371588.10	protein_coding	6/8			chr20	TogoVar
DPP10_chr2_114437641_115850780	115334230	G G	GTTTTTTT others(24): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0055 a0002c0001t0002g0055	1	13	0.0769	31	c.176 others(48): Show c.176-9571_176-9570insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPRX_chr19_53626999_53642014	53641077	T T	TCCCCCCC others(24): Show TCCCCCCCCCCCTCCCCCCCCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	476	0.0021	31	c.40 others(42): Show c.4089_*4090insCCCCCCCCCCCTCCCCCCCCCCCCCCCCCCC	DPRX	ENSG00000204595.3	transcript	ENST00000376650.2	protein_coding		4064		chr19	TogoVar
DPY19L1_chr7_34923881_35042485	35017501	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	141	0.0071	31	c.411 others(46): Show c.411+380_411+381insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	DPY19L1	ENSG00000173852.16	transcript	ENST00000638088.2	protein_coding	3/21			chr7	TogoVar
DPY19L1_chr7_34923881_35042485	35027668	T T	TAAAAAAA others(24): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0226 a0002c0002t0003g0226	1	126	0.0079	31	c.299 others(48): Show c.299-9073_299-9072insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	DPY19L1	ENSG00000173852.16	transcript	ENST00000638088.2	protein_coding	1/21			chr7	TogoVar
DPY19L2_chr12_63553913_63673493	63592006	G G	GAGGGGAG others(24): Show GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01167.hp2 HG01169.hp1 others(12): Show HG01081.hp2 HG01167.hp2 HG01169.hp1 HG01358.hp2 HG01515.hp1 HG02109.hp2 HG02257.hp2 HG02647.hp1 HG02647.hp2 HG03139.hp1 HG03239.hp1 HG03540.hp1 NA18906.hp2 NA19060.hp2 NA20805.hp2	a0002 a0003 a0004 others(1): Show a0002 a0003 a0004 a0010	a0002c0002 a0003c0004 a0004c0008 others(1): Show a0002c0002 a0003c0004 a0004c0008 a0010c0014	a0002c0002t0004 a0003c0004t0003 a0004c0008t0008 others(1): Show a0002c0002t0004 a0003c0004t0003 a0004c0008t0008 a0010c0014t0004	a0002c0002t0004g0017 a0002c0002t0004g0018 a0002c0002t0004g0019 others(12): Show a0002c0002t0004g0017 a0002c0002t0004g0018 a0002c0002t0004g0019 a0002c0002t0004g0020 a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 a0002c0002t0004g0024 a0002c0002t0004g0025 a0002c0002t0004g0179 a0003c0004t0003g0102 a0003c0004t0003g0104 a0003c0004t0003g0105 a0004c0008t0008g0193 a0010c0014t0004g0185	15	344	0.0436	31	c.158 others(50): Show c.1580+2080_1580+2081insACCCCTCCCCTCCCCTCCCCTCCCCT CCCCT	DPY19L2	ENSG00000177990.12	transcript	ENST00000324472.9	protein_coding	16/21			chr12	TogoVar
DPY19L2_chr12_63553913_63673493	63592016	G G	GAGGGGAG others(24): Show GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0099 a0003c0004t0003g0099	1	357	0.0028	31	c.158 others(50): Show c.1580+2070_1580+2071insACCCCTCCCCTCCCCTCCCCTCCCCT CCCCT	DPY19L2	ENSG00000177990.12	transcript	ENST00000324472.9	protein_coding	16/21			chr12	TogoVar
DPYSL2_chr8_26509031_26663175	26567285	C C	CCATCCAT others(24): Show CCATCCATCCATCCATCCATCCACCCACCACA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00423.hp1 others(104): Show HG00140.hp2 HG00408.hp2 HG00423.hp1 HG00639.hp1 HG00733.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01175.hp2 HG01243.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01496.hp2 HG01891.hp2 HG01928.hp1 HG01952.hp1 HG01993.hp1 HG02015.hp2 HG02055.hp2 HG02071.hp1 HG02129.hp1 HG02145.hp2 HG02258.hp1 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02523.hp2 HG02602.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02965.hp2 HG02970.hp1 HG03041.hp2 HG03098.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03516.hp2 HG03540.hp1 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG04184.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18943.hp2 NA18948.hp2 NA18954.hp1 NA18955.hp1 NA18960.hp1 NA18963.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18978.hp2 NA18979.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18989.hp2 NA18992.hp2 NA18993.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19007.hp2 NA19010.hp1 NA19065.hp2 NA19066.hp1 NA19070.hp1 NA19088.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0010 a0001c0013 a0001c0017 a0001c0018 a0001c0020 a0003c0009 a0003c0014 a0004c0012	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(27): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0036 a0001c0001t0037 a0001c0001t0046 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0009 a0001c0002t0010 a0001c0003t0001 a0001c0003t0009 a0001c0003t0020 a0001c0010t0001 a0001c0013t0004 a0001c0017t0018 a0001c0018t0014 a0001c0020t0018 a0003c0009t0005 a0003c0014t0022 a0004c0012t0001	a0001c0001t0002g0073 a0001c0001t0002g0105 a0001c0001t0002g0119 others(104): Show a0001c0001t0002g0073 a0001c0001t0002g0105 a0001c0001t0002g0119 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0141 a0001c0001t0002g0147 a0001c0001t0002g0169 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0003g0109 a0001c0001t0003g0116 a0001c0001t0003g0138 a0001c0001t0003g0146 a0001c0001t0003g0212 a0001c0001t0003g0241 a0001c0001t0004g0122 a0001c0001t0004g0123 a0001c0001t0005g0139 a0001c0001t0005g0140 a0001c0001t0005g0204 a0001c0001t0005g0205 a0001c0001t0007g0153 a0001c0001t0007g0206 a0001c0001t0008g0121 a0001c0001t0008g0208 a0001c0001t0008g0209 a0001c0001t0008g0216 a0001c0001t0010g0072 a0001c0001t0010g0307 a0001c0001t0014g0006 a0001c0001t0014g0193 a0001c0001t0016g0107 a0001c0001t0016g0108 a0001c0001t0016g0145 a0001c0001t0017g0136 a0001c0001t0017g0203 a0001c0001t0036g0284 a0001c0001t0037g0207 a0001c0001t0046g0010 a0001c0002t0001g0094 a0001c0002t0001g0101 a0001c0002t0001g0104 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0118 a0001c0002t0001g0125 a0001c0002t0001g0128 a0001c0002t0001g0130 a0001c0002t0001g0137 a0001c0002t0001g0143 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0154 a0001c0002t0001g0170 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0004g0090 a0001c0002t0004g0095 a0001c0002t0004g0096 a0001c0002t0004g0097 a0001c0002t0004g0098 a0001c0002t0004g0111 a0001c0002t0004g0113 a0001c0002t0004g0117 a0001c0002t0004g0120 a0001c0002t0004g0172 a0001c0002t0004g0173 a0001c0002t0004g0174 a0001c0002t0004g0182 a0001c0002t0005g0079 a0001c0002t0005g0087 a0001c0002t0006g0131 a0001c0002t0006g0144 a0001c0002t0006g0192 a0001c0002t0009g0177 a0001c0002t0010g0099 a0001c0002t0010g0112 a0001c0003t0001g0285 a0001c0003t0009g0127 a0001c0003t0009g0129 a0001c0003t0009g0292 a0001c0003t0020g0126 a0001c0003t0020g0135 a0001c0010t0001g0171 a0001c0010t0001g0178 a0001c0010t0001g0179 a0001c0013t0004g0100 a0001c0017t0018g0148 a0001c0018t0014g0124 a0001c0020t0018g0106 a0003c0009t0005g0007 a0003c0009t0005g0008 a0003c0009t0005g0009 a0003c0014t0022g0311 a0004c0012t0001g0102 a0004c0012t0001g0103	107	314	0.3408	31	c.355 others(50): Show c.355-14674_355-14673insTCCATCCATCCACCCACCACACATCC ATCCA	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPYSL4_chr10_132181948_132210759	132205982	G G	GGCCCCCC others(24): Show GGCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0056 a0001c0004t0003g0056	1	262	0.0038	31	c.10 others(42): Show c.1052_*1053insGCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	DPYSL4	ENSG00000151640.13	transcript	ENST00000338492.9	protein_coding		224		chr10	TogoVar
DROSHA_chr5_31395494_31537093	31421897	A A	AAATATAT others(24): Show AAATATATATATATATATATATATATATGCGC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0085 a0001c0003t0002g0085	1	259	0.0039	31	c.342 others(48): Show c.3420-521_3420-520insGCGCATATATATATATATATATATATAT ATT	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding	29/35			chr5	TogoVar
DROSHA_chr5_31395494_31537093	31421898	T T	TATATATA others(24): Show TATATATATATATATATATATATATATGCGCC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01981.hp1 HG02145.hp1 others(16): Show HG00558.hp2 HG01981.hp1 HG02145.hp1 HG02148.hp2 HG02273.hp1 HG02280.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG03098.hp1 HG03195.hp2 NA18951.hp2 NA18954.hp1 NA18961.hp2 NA18971.hp1 NA19005.hp2 NA19056.hp2 NA19240.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0010	a0001c0001t0005 a0001c0002t0001 a0001c0003t0002 others(3): Show a0001c0001t0005 a0001c0002t0001 a0001c0003t0002 a0001c0003t0003 a0001c0007t0001 a0001c0010t0001	a0001c0001t0005g0315 a0001c0002t0001g0038 a0001c0002t0001g0040 others(16): Show a0001c0001t0005g0315 a0001c0002t0001g0038 a0001c0002t0001g0040 a0001c0002t0001g0086 a0001c0002t0001g0160 a0001c0002t0001g0198 a0001c0003t0002g0225 a0001c0003t0003g0041 a0001c0003t0003g0052 a0001c0003t0003g0053 a0001c0003t0003g0058 a0001c0003t0003g0063 a0001c0003t0003g0124 a0001c0003t0003g0158 a0001c0003t0003g0239 a0001c0007t0001g0260 a0001c0007t0001g0261 a0001c0010t0001g0081 a0001c0010t0001g0082	19	130	0.1462	31	c.342 others(48): Show c.3420-522_3420-521insGGCGCATATATATATATATATATATATA TAT	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding	29/35			chr5	TogoVar
DSCAML1_chr11_117422772_117802216	117687426	A A	ATTTTTTT others(24): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02055.hp2 HG03041.hp1 HG01081.hp2 HG02055.hp2 HG03041.hp1	a0001 a0002 a0001 a0002	a0001c0015 a0002c0002 a0002c0003 a0001c0015 a0002c0002 a0002c0003	a0001c0015t0003 a0002c0002t0001 a0002c0003t0002 a0001c0015t0003 a0002c0002t0001 a0002c0003t0002	a0001c0015t0003g0006 a0002c0002t0001g0056 a0002c0003t0002g0191 a0001c0015t0003g0006 a0002c0002t0001g0056 a0002c0003t0002g0191	3	17	0.1765	31	c.511 others(50): Show c.511+89364_511+89365insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	3/32			chr11	TogoVar
DSE_chr6_116365947_116449861	116410764	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01346.hp2 HG00323.hp1 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0088 a0001c0001t0002g0125 a0001c0001t0002g0088 a0001c0001t0002g0125	2	347	0.0058	31	c.416 others(50): Show c.416+11100_416+11101insAAAAAAAAAAAAAAAAAAAAAAAAAA AAGAA	DSE	ENSG00000111817.19	transcript	ENST00000644252.3	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
DSTN_chr20_17565075_17614919	17583735	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0257 a0001c0001t0005g0257	1	10	0.1000	31	c.3+1 others(46): Show c.3+13547_3+13548insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	DSTN	ENSG00000125868.16	transcript	ENST00000246069.12	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
DUXA_chr19_57149021_57172485	57165324	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	197	0.0051	31	c.25+ others(46): Show c.25+2094_25+2095insATATATATATATATATATATATATATATAT A	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding	1/5			chr19	TogoVar
DYM_chr18_49031387_49465645	49206003	G G	GTTTTTTT others(24): Show GTTTTTTTTTTTTTTGTTTGTTTGTTTTTTGT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02809.hp1 HG03195.hp1 HG02572.hp1 HG02809.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0242 a0001c0001t0011g0243 a0001c0001t0011g0244 a0001c0001t0011g0242 a0001c0001t0011g0243 a0001c0001t0011g0244	3	226	0.0133	31	c.162 others(50): Show c.1625+3547_1625+3548insACAAAAAACAAACAAACAAAAAAAAA AAAAA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	14/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49317597	C C	CTCTCTCT others(24): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0236 a0001c0002t0001g0236	1	170	0.0059	31	c.763 others(50): Show c.763+14266_763+14267insAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	8/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49317646	C C	CTCCTCTC others(24): Show CTCCTCTCCTCTCCTCTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0135 a0001c0001t0004g0135	1	187	0.0053	31	c.763 others(50): Show c.763+14217_763+14218insAGGAAGGAAGGAAGGAGAGGAGAGGA GAGGA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	8/17			chr18	TogoVar
DYNC1H1_chr14_101959573_102061443	101998887	T T	TTTGTTTT others(24): Show TTTGTTTTTTTGTTTTTTTGTTTTTTTGTTTG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02809.hp1 HG00639.hp1 HG02809.hp1	a0001 a0001	a0001c0023 a0001c0024 a0001c0023 a0001c0024	a0001c0023t0019 a0001c0024t0020 a0001c0023t0019 a0001c0024t0020	a0001c0023t0019g0240 a0001c0024t0020g0239 a0001c0023t0019g0240 a0001c0024t0020g0239	2	278	0.0072	31	c.380 others(50): Show c.3805-1100_3805-1099insGTTTTTTTGTTTTTTTGTTTTTTTGT TTGTT	DYNC1H1	ENSG00000197102.14	transcript	ENST00000360184.10	protein_coding	16/77		INFO_REALIGN_3_PRIME	chr14	TogoVar
DYNC1LI1_chr3_32520974_32575858	32532480	A A	ATGTGTAT others(24): Show ATGTGTATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01361.hp2 NA18951.hp2 NA18954.hp1 others(1): Show HG01361.hp2 NA18951.hp2 NA18954.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0019 a0001c0001t0001g0301 a0001c0001t0004g0061 a0001c0001t0001g0019 a0001c0001t0001g0301 a0001c0001t0004g0061	4	278	0.0144	31	c.108 others(48): Show c.1080+505_1080+506insATATATATATATATATATATATATATAC ACA	DYNC1LI1	ENSG00000144635.9	transcript	ENST00000273130.9	protein_coding	8/12			chr3	TogoVar
DYNLT1_chr6_158631474_158649743	158636069	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	185	0.0054	31	c.75 others(40): Show c.757_*758insAAATATATATATATATATATATATATATATA	DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding		404		chr6	TogoVar
DYNLT1_chr6_158631474_158649743	158636069	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	185	0.0054	31	c.75 others(40): Show c.757_*758insAAAAATATATATATATATATATATATATATA	DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding		404		chr6	TogoVar
DYNLT1_chr6_158631474_158649743	158636070	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	326	0.0031	31	c.75 others(40): Show c.756_*757insTATATATATATATATATATATATATATATAT	DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding		403		chr6	TogoVar
DYRK1A_chr21_37361773_37531358	37363299	A A	AAAAAAAG others(24): Show AAAAAAAGAAAGAACGAACGAACAATAAAGTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	348	0.0029	31	c.-44 others(42): Show c.-4406_-4405insAAAAAAGAAAGAACGAACGAACAATAAAGTT	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding		3473		chr21	TogoVar
DYRK1A_chr21_37361773_37531358	37440130	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA19086.hp1 NA18943.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0037 a0001c0001t0001 a0001c0001t0037	a0001c0001t0001g0009 a0001c0001t0037g0246 a0001c0001t0001g0009 a0001c0001t0037g0246	2	67	0.0299	31	c.10+ others(48): Show c.10+19769_10+19770insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
DYSF_chr2_71448561_71691763	71560417	G G	GCCCCAGC others(24): Show GCCCCAGCACAGGGCTCCGGCCCAGGCCCCCC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01255.hp2 HG03471.hp1 others(6): Show HG01109.hp1 HG01255.hp2 HG03471.hp1 HG03486.hp2 NA18946.hp2 NA18952.hp1 NA19068.hp2 NA19240.hp2 NA20129.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0023	a0001c0003 a0001c0011 a0001c0013 others(4): Show a0001c0003 a0001c0011 a0001c0013 a0002c0022 a0002c0070 a0004c0008 a0023c0069	a0001c0003t0001 a0001c0011t0001 a0001c0013t0001 others(4): Show a0001c0003t0001 a0001c0011t0001 a0001c0013t0001 a0002c0022t0001 a0002c0070t0001 a0004c0008t0001 a0023c0069t0001	a0001c0003t0001g0069 a0001c0003t0001g0077 a0001c0011t0001g0171 others(6): Show a0001c0003t0001g0069 a0001c0003t0001g0077 a0001c0011t0001g0171 a0001c0013t0001g0057 a0002c0022t0001g0050 a0002c0070t0001g0150 a0004c0008t0001g0011 a0004c0008t0001g0052 a0023c0069t0001g0189	9	91	0.0989	31	c.216 others(50): Show c.2163-1331_2163-1330insAGCACAGGGCTCCGGCCCAGGCCCCC CCCCC	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	22/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71560417	G G	GCCCCAGC others(24): Show GCCCCAGCACAGGGCTCCGGCCCAGGCCCCCC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01255.hp2 HG02523.hp1 others(9): Show HG01109.hp1 HG01255.hp2 HG02523.hp1 HG03471.hp1 HG03486.hp2 NA18946.hp2 NA18952.hp1 NA18979.hp1 NA19010.hp2 NA19068.hp2 NA19240.hp1 NA20129.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0024	a0001c0003 a0001c0008 a0001c0009 others(5): Show a0001c0003 a0001c0008 a0001c0009 a0001c0013 a0002c0022 a0002c0075 a0004c0011 a0024c0072	a0001c0003t0001 a0001c0008t0001 a0001c0008t0002 others(6): Show a0001c0003t0001 a0001c0008t0001 a0001c0008t0002 a0001c0009t0001 a0001c0013t0002 a0002c0022t0001 a0002c0075t0001 a0004c0011t0001 a0024c0072t0001	a0001c0003t0001g0115 a0001c0003t0001g0128 a0001c0008t0001g0109 others(9): Show a0001c0003t0001g0115 a0001c0003t0001g0128 a0001c0008t0001g0109 a0001c0008t0002g0157 a0001c0008t0002g0178 a0001c0009t0001g0091 a0001c0013t0002g0186 a0002c0022t0001g0111 a0002c0075t0001g0138 a0004c0011t0001g0103 a0004c0011t0001g0146 a0024c0072t0001g0144	12	96	0.1250	31	c.221 others(50): Show c.2217-1331_2217-1330insAGCACAGGGCTCCGGCCCAGGCCCCC CCCCC	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	22/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
ECEL1_chr2_232474827_232492834	232483611	A A	AAGCCCAA others(24): Show AAGCCCAAACCTCATTTCTGAACACCAAGAGG	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0013 a0013	a0013c0018 a0013c0018	a0013c0018t0001 a0013c0018t0001	a0013c0018t0001g0088 a0013c0018t0001g0088	1	436	0.0023	31	c.140 others(47): Show c.1408-128_1408-98dupCCTCTTGGTGTTCAGAAATGAGGTTTGGG CT	ECEL1	ENSG00000171551.12	transcript	ENST00000304546.6	protein_coding	7/17			chr2	TogoVar
ECPAS_chr9_111355685_111489383	111468705	T T	TGTGTGTG others(24): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0280 a0003c0005t0002g0280	1	347	0.0029	31	c.22+ others(46): Show c.22+4191_22+4192insCACACACACACACACACACACACACACACA C	ECPAS	ENSG00000136813.15	transcript	ENST00000684092.1	protein_coding	2/49			chr9	TogoVar
EDARADD_chr1_236389286_236489930	236405874	C C	CTTCCTTC others(24): Show CTTCCTTCCTTCTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	140	0.0071	31	c.62- others(46): Show c.62-3339_62-3338insCTTCCTTCTTCTTTCTTTCTTTCTTTCTTT C	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EDARADD_chr1_236389286_236489930	236405874	C C	CTTCTTCT others(24): Show CTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0007 a0001c0003t0002g0007	1	140	0.0071	31	c.62- others(46): Show c.62-3337_62-3336insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT T	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EDC3_chr15_74625558_74701024	74668763	A A	AAAGAAAG others(24): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0205 a0001c0001t0002g0205	1	284	0.0035	31	c.484 others(48): Show c.484+2691_484+2692insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTT	EDC3	ENSG00000179151.13	transcript	ENST00000315127.9	protein_coding	3/6			chr15	TogoVar
EDIL3_chr5_83935554_84389880	84262659	G G	GTTTTTTT others(24): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0129 a0001c0001t0002g0129	1	2	0.5000	31	c.68- others(46): Show c.68-8448_68-8447insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	1/10			chr5	TogoVar
EDNRA_chr4_147476097_147549954	147547956	C C	CCGCCATA others(24): Show CCGCCATATCCAACTCCAGCCTTTTCACTGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0007 a0002c0004t0007	a0002c0004t0007g0198 a0002c0004t0007g0198	1	278	0.0036	31	c.53 others(42): Show c.5338_*5339insCGCCATATCCAACTCCAGCCTTTTCACTGCA	EDNRA	ENSG00000151617.17	transcript	ENST00000651419.1	protein_coding		3003		chr4	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124769218	C C	CACAAAAA others(24): Show CACAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01168.hp2 HG01169.hp2 HG01099.hp1 HG01168.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0063 a0001c0001t0002g0079 a0001c0001t0006g0037 a0001c0001t0002g0063 a0001c0001t0002g0079 a0001c0001t0006g0037	3	195	0.0154	31	c.400 others(48): Show c.400-3611_400-3610insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGT	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	4/6			chr10	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124769233	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0080	1	184	0.0054	31	c.400 others(48): Show c.400-3626_400-3625insATATATATATTTTTTTTTTTTTTTTTTT TTT	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	4/6			chr10	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124769233	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA19005.hp1 NA18975.hp1 NA19005.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0006 a0001c0001 a0007c0006	a0001c0001t0001 a0007c0006t0002 a0001c0001t0001 a0007c0006t0002	a0001c0001t0001g0168 a0007c0006t0002g0045 a0001c0001t0001g0168 a0007c0006t0002g0045	2	185	0.0108	31	c.400 others(48): Show c.400-3626_400-3625insATATATATATATTTTTTTTTTTTTTTTT TTT	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	4/6			chr10	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124769233	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0033 a0001c0001t0017g0033	1	184	0.0054	31	c.400 others(48): Show c.400-3626_400-3625insATATATATATATATTTTTTTTTTTTTTT TTT	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	4/6			chr10	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124769233	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0009 a0002c0002t0001g0009	1	184	0.0054	31	c.400 others(48): Show c.400-3626_400-3625insATATATATATATATATTTTTTTTTTTTT TTT	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	4/6			chr10	TogoVar

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