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
MAST3_chr19_18092778_18156687	18104179	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01081.hp2 HG02280.hp2 others(1): Show HG00735.hp2 HG01081.hp2 HG02280.hp2 HG06807.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0003 a0001c0003t0002g0245 a0001c0003t0002g0246 a0001c0003t0002g0003 a0001c0003t0002g0245 a0001c0003t0002g0246	4	6	0.6667	-23	c.40- others(38): Show c.40-3390_40-3368delAAAAAAAAAAAAAAAAAAAAAAA	MAST3	ENSG00000099308.13	transcript	ENST00000687212.1	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr19	TogoVar
MAST4_chr5_66591393_67174593	66804252	AGCAACTA others(16): Show AGCAACTATTAGTATAATAGGGCT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0038 a0001c0002t0003g0038	1	106	0.0094	-23	c.642 others(42): Show c.642+15462_642+15484delACTATTAGTATAATAGGGCTGCA	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	3/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
MATR3_chr5_139288740_139336677	139311750	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	1	25	0.0400	-23	c.913 others(40): Show c.913-2912_913-2890delTTTTTTTTTTTTTTTTTTTTTTT	MATR3	ENSG00000015479.20	transcript	ENST00000394805.8	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAVS_chr20_3841834_3881118	3870634	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0135 a0001c0001t0135	a0001c0001t0135g0173 a0001c0001t0135g0173	1	31	0.0323	-23	c.45 others(34): Show c.4507_*4529delAAAAAAAAAAAAAAAAAAAAAAA	MAVS	ENSG00000088888.18	transcript	ENST00000428216.4	protein_coding	7/7	4507	INFO_REALIGN_3_PRIME	chr20	TogoVar
MB21D2_chr3_192791815_192922856	192828591	CATATATA others(16): Show CATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG04199.hp1 HG02698.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0202 a0001c0001t0001g0188 a0001c0001t0001g0202	2	50	0.0400	-23	c.212 others(42): Show c.212-28964_212-28942delTATATATATATATATATATATAT	MB21D2	ENSG00000180611.7	transcript	ENST00000392452.3	protein_coding	1/1			chr3	TogoVar
MB21D2_chr3_192791815_192922856	192828593	TATATATA others(16): Show TATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02155.hp1 NA18946.hp1 others(4): Show HG02080.hp2 HG02155.hp1 NA18946.hp1 NA18993.hp1 NA18999.hp1 NA19001.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 a0001c0001t0001 a0001c0001t0002 a0001c0002t0003	a0001c0001t0001g0116 a0001c0001t0001g0193 a0001c0001t0002g0226 others(4): Show a0001c0001t0001g0116 a0001c0001t0001g0193 a0001c0001t0002g0226 a0001c0002t0003g0021 a0001c0002t0003g0033 a0001c0002t0003g0225 a0001c0002t0003g0280	7	261	0.0268	-23	c.212 others(42): Show c.212-28966_212-28944delTATATATATATATATATATATAT	MB21D2	ENSG00000180611.7	transcript	ENST00000392452.3	protein_coding	1/1			chr3	TogoVar
MBD3L2_chr19_7044321_7056735	7054037	ATAATATA others(16): Show ATAATATATAATATATATAATATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 NA19079.hp2 HG03471.hp2 NA19079.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0008 a0002c0002t0001g0003 a0002c0002t0001g0008	2	249	0.0080	-23	c.24 others(34): Show c.2416_*2438delTAATATATAATATATATAATATG	MBD3L2	ENSG00000230522.5	transcript	ENST00000381393.3	protein_coding		2303		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7054037	ATAATATA others(16): Show ATAATATATAATATATATAATATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	277	0.0036	-23	c.22 others(34): Show c.2262_*2284delCATATTATATATATTATATATTA	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		2169		chr19	TogoVar
MBD5_chr2_148016091_148521971	148389248	AAACATAT others(16): Show AAACATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02809.hp2 HG02622.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0121 a0001c0001t0012g0122 a0001c0001t0012g0121 a0001c0001t0012g0122	2	116	0.0172	-23	c.-55 others(44): Show c.-557+46914_-557+46936delACATATATATATATATATATATA	MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
MBD5_chr2_148016091_148521971	148424177	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02258.hp2 HG02622.hp2 others(5): Show HG00735.hp2 HG02258.hp2 HG02622.hp2 HG02897.hp1 HG02965.hp2 HG03453.hp1 HG03540.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0024 a0001c0001t0026	a0001c0001t0002g0012 a0001c0001t0002g0014 a0001c0001t0002g0107 others(5): Show a0001c0001t0002g0012 a0001c0001t0002g0014 a0001c0001t0002g0107 a0001c0001t0003g0182 a0001c0001t0006g0013 a0001c0001t0006g0180 a0001c0001t0024g0159 a0001c0001t0026g0181	8	37	0.2162	-23	c.-55 others(44): Show c.-556-34009_-556-33987delAAAAAAAAAAAAAAAAAAAAAAA	MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
MBNL3_chrX_132364320_132494038	132408092	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0166 a0001c0001t0030g0166	1	9	0.1111	-23	c.178 others(40): Show c.178-1723_178-1701delAAAAAAAAAAAAAAAAAAAAAAA	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	2/8			chrX	TogoVar
MBOAT7_chr19_54168415_54194580	54178369	CCTTCTAT others(16): Show CCTTCTATCTACCTATGAAACCAG	C C	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0135 a0001c0009t0001g0135	1	372	0.0027	-23	c.103 others(40): Show c.1031+373_1031+395delCTGGTTTCATAGGTAGATAGAAG	MBOAT7	ENSG00000125505.17	transcript	ENST00000245615.6	protein_coding	7/7			chr19	TogoVar
MBP_chr18_76973833_77137783	76975155	CTTTCCTT others(16): Show CTTTCCTTTTCTTTTCTTTTCTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG03927.hp2 NA18952.hp2 HG01346.hp1 HG03927.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0014 a0001c0001t0015 a0001c0001t0009 a0001c0001t0014 a0001c0001t0015	a0001c0001t0009g0107 a0001c0001t0014g0265 a0001c0001t0015g0374 a0001c0001t0009g0107 a0001c0001t0014g0265 a0001c0001t0015g0374	3	394	0.0076	-23	c.52 others(34): Show c.5249_*5271delAAAGAAAAGAAAAGAAAAGGAAA	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding		3677		chr18	TogoVar
MBTPS1_chr16_84048763_84121942	84087473	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAGAAAAGAA	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0008 a0002c0008t0008	a0002c0008t0008g0212 a0002c0008t0008g0212	1	189	0.0053	-23	c.103 others(38): Show c.1032-36_1032-14delTTCTTTTCTTTTTTTTTTTTTTT	MBTPS1	ENSG00000140943.18	transcript	ENST00000343411.8	protein_coding	8/22			chr16	TogoVar
MC1R_chr16_89913862_89925972	89913979	CACGTGTG others(16): Show CACGTGTGTGCACGTGTGTGGGTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	394	0.0025	-23	c.-52 others(34): Show c.-5279_-5257delACGTGTGTGCACGTGTGTGGGTA	MC1R	ENSG00000258839.4	transcript	ENST00000555147.2	protein_coding		4882		chr16	TogoVar
MCAM_chr11_119303529_119322130	119320050	GTAGGGGG others(16): Show GTAGGGGGCAGGAAACCGGATACT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	480	0.0021	-23	c.-29 others(34): Show c.-2972_-2950delAGTATCCGGTTTCCTGCCCCCTA	MCAM	ENSG00000076706.17	transcript	ENST00000264036.6	protein_coding		2921		chr11	TogoVar
MCAT_chr22_43127209_43148398	43144843	GAGAATTG others(16): Show GAGAATTGCTTGAACCCAGGAGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0107 a0001c0001t0002g0107	1	416	0.0024	-23	c.-15 others(34): Show c.-1518_-1496delGCCTCCTGGGTTCAAGCAATTCT	MCAT	ENSG00000100294.13	transcript	ENST00000290429.11	protein_coding		1446		chr22	TogoVar
MCCC1_chr3_183010218_183104496	183102758	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0288 a0002c0002t0001g0288	1	20	0.0500	-23	c.-33 others(34): Show c.-3341_-3319delAAAAAAAAAAAAAAAAAAAAAAA	MCCC1	ENSG00000078070.14	transcript	ENST00000265594.9	protein_coding		3263		chr3	TogoVar
MCC_chr5_113017106_113493453	113299292	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp2 HG01258.hp1 others(9): Show HG00323.hp1 HG00639.hp2 HG01258.hp1 HG02040.hp1 HG02683.hp2 HG03225.hp2 NA18945.hp2 NA18947.hp2 NA18977.hp1 NA19001.hp1 NA20752.hp2 NA20805.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0010	a0001c0003 a0001c0007 a0002c0001 others(5): Show a0001c0003 a0001c0007 a0002c0001 a0003c0006 a0003c0034 a0003c0038 a0005c0032 a0010c0059	a0001c0003t0001 a0001c0007t0038 a0002c0001t0004 others(6): Show a0001c0003t0001 a0001c0007t0038 a0002c0001t0004 a0003c0006t0001 a0003c0006t0002 a0003c0034t0002 a0003c0038t0005 a0005c0032t0046 a0010c0059t0001	a0001c0003t0001g0083 a0001c0007t0038g0076 a0002c0001t0004g0157 others(9): Show a0001c0003t0001g0083 a0001c0007t0038g0076 a0002c0001t0004g0157 a0002c0001t0004g0158 a0003c0006t0001g0011 a0003c0006t0002g0013 a0003c0006t0002g0016 a0003c0006t0002g0017 a0003c0034t0002g0012 a0003c0038t0005g0014 a0005c0032t0046g0006 a0010c0059t0001g0160	12	18	0.6667	-23	c.627 others(42): Show c.627+41204_627+41226delTTTTTTTTTTTTTTTTTTTTTTT	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	3/18			chr5	TogoVar
MCF2L2_chr3_183173041_183433619	183216570	ATATATAT others(16): Show ATATATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01515.hp2 HG01978.hp2 HG01071.hp2 HG01515.hp2 HG01978.hp2	a0001 a0002 a0019 a0001 a0002 a0019	a0001c0001 a0002c0002 a0019c0022 a0001c0001 a0002c0002 a0019c0022	a0001c0001t0001 a0002c0002t0001 a0019c0022t0019 a0001c0001t0001 a0002c0002t0001 a0019c0022t0019	a0001c0001t0001g0087 a0002c0002t0001g0001 a0019c0022t0019g0026 a0001c0001t0001g0087 a0002c0002t0001g0001 a0019c0022t0019g0026	3	150	0.0200	-23	c.237 others(40): Show c.2371-499_2371-477delAAAAAAAAAAAAATATATATATA	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	21/29			chr3	TogoVar
MCF2L2_chr3_183173041_183433619	183216578	ATATTTTT others(16): Show ATATTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0014 a0014	a0014c0014 a0014c0014	a0014c0014t0002 a0014c0014t0002	a0014c0014t0002g0022 a0014c0014t0002g0022	1	164	0.0061	-23	c.237 others(40): Show c.2371-507_2371-485delAAAAAAAAAAAAAAAAAAAAATA	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	21/29			chr3	TogoVar
MCF2L_chr13_112964214_113104742	113055385	CACACACA others(16): Show CACACACACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	58	0.0172	-23	c.370 others(40): Show c.370-5207_370-5185delACACACACACACACACACACACA	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	4/29			chr13	TogoVar
MCF2L_chr13_112964214_113104742	113061779	CTCCCTCT others(16): Show CTCCCTCTCCCCCTTCCCCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00733.hp1 HG00733.hp2 others(41): Show HG00323.hp2 HG00733.hp1 HG00733.hp2 HG01070.hp2 HG01109.hp1 HG01168.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01891.hp2 HG01978.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02145.hp2 HG02273.hp1 HG02300.hp1 HG02486.hp2 HG02572.hp1 HG02622.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG03017.hp1 HG03209.hp1 HG03209.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03492.hp2 HG03688.hp2 HG04115.hp2 HG06807.hp1 NA19066.hp1 NA19066.hp2 NA19081.hp2 NA19240.hp2 NA20805.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0004 others(8): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0010 a0001c0012 a0002c0007 a0003c0009 a0004c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0014 a0001c0001t0017 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0015 a0001c0002t0016 a0001c0004t0001 a0001c0004t0004 a0001c0005t0001 a0001c0006t0002 a0001c0006t0031 a0001c0008t0003 a0001c0008t0004 a0001c0010t0022 a0001c0012t0032 a0002c0007t0001 a0003c0009t0010 a0004c0014t0025	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0037 others(41): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0049 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0069 a0001c0001t0001g0087 a0001c0001t0002g0046 a0001c0001t0002g0116 a0001c0001t0004g0070 a0001c0001t0008g0048 a0001c0001t0008g0064 a0001c0001t0014g0001 a0001c0001t0017g0058 a0001c0002t0001g0036 a0001c0002t0001g0071 a0001c0002t0002g0003 a0001c0002t0002g0093 a0001c0002t0005g0059 a0001c0002t0015g0007 a0001c0002t0016g0052 a0001c0004t0001g0103 a0001c0004t0004g0044 a0001c0005t0001g0079 a0001c0005t0001g0080 a0001c0005t0001g0081 a0001c0005t0001g0088 a0001c0006t0002g0041 a0001c0006t0031g0096 a0001c0008t0003g0039 a0001c0008t0003g0042 a0001c0008t0004g0083 a0001c0010t0022g0015 a0001c0012t0032g0021 a0002c0007t0001g0072 a0002c0007t0001g0074 a0002c0007t0001g0076 a0002c0007t0001g0112 a0002c0007t0001g0114 a0003c0009t0010g0115 a0004c0014t0025g0100	44	67	0.6567	-23	c.489 others(40): Show c.489+1088_489+1110delCCTTCCCTCTCCCCCTTCCCCTC	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	5/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
MCFD2_chr2_46896874_46920806	46904203	TGCAGGGG others(16): Show TGCAGGGGAGAGGCCCTCTCAGCG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00408.hp1 HG00609.hp2 HG01074.hp2 others(58): Show HG00408.hp1 HG00609.hp2 HG01074.hp2 HG01099.hp1 HG01106.hp2 HG01884.hp1 HG01934.hp2 HG01943.hp2 HG02055.hp2 HG02071.hp1 HG02083.hp1 HG02109.hp1 HG02155.hp2 HG02258.hp1 HG02523.hp1 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp2 HG02818.hp1 HG02886.hp2 HG02896.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03225.hp2 HG03491.hp2 HG03516.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 NA18522.hp1 NA18906.hp2 NA18943.hp1 NA18950.hp2 NA18962.hp2 NA18967.hp2 NA18969.hp2 NA18977.hp1 NA18978.hp1 NA18980.hp1 NA18989.hp2 NA18992.hp1 NA18993.hp2 NA18995.hp2 NA18997.hp2 NA18998.hp2 NA19003.hp1 NA19043.hp1 NA19058.hp1 NA19060.hp2 NA19063.hp1 NA19068.hp1 NA19072.hp2 NA19075.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19091.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0012 a0001c0001t0016 others(5): Show a0001c0001t0005 a0001c0001t0012 a0001c0001t0016 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031	a0001c0001t0005g0003 a0001c0001t0005g0008 a0001c0001t0005g0017 others(12): Show a0001c0001t0005g0003 a0001c0001t0005g0008 a0001c0001t0005g0017 a0001c0001t0005g0020 a0001c0001t0005g0064 a0001c0001t0012g0028 a0001c0001t0012g0062 a0001c0001t0012g0063 a0001c0001t0016g0043 a0001c0001t0016g0044 a0001c0001t0027g0107 a0001c0001t0028g0108 a0001c0001t0029g0074 a0001c0001t0030g0061 a0001c0001t0031g0060	61	410	0.1488	-23	c.12 others(34): Show c.1237_*1259delCGCTGAGAGGGCCTCTCCCCTGC	MCFD2	ENSG00000180398.13	transcript	ENST00000319466.9	protein_coding	4/4	1237		chr2	TogoVar
MCMBP_chr10_119824440_119877843	119836757	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00423.hp1 others(42): Show HG00099.hp1 HG00140.hp2 HG00423.hp1 HG00544.hp1 HG01069.hp1 HG01167.hp1 HG02027.hp1 HG02074.hp2 HG02132.hp1 HG02155.hp1 HG02602.hp2 HG03491.hp2 HG03492.hp2 HG03669.hp1 HG03688.hp1 HG03927.hp1 HG04115.hp1 HG04204.hp1 NA18946.hp2 NA18947.hp1 NA18952.hp2 NA18961.hp2 NA18966.hp2 NA18967.hp1 NA18973.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp2 NA18986.hp1 NA18990.hp2 NA18992.hp1 NA18995.hp1 NA19001.hp1 NA19002.hp1 NA19007.hp1 NA19011.hp1 NA19012.hp1 NA19054.hp1 NA19057.hp1 NA19062.hp1 NA19065.hp1 NA19072.hp1 NA19075.hp2 NA19090.hp1 NA20905.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0012 a0001c0001 a0005c0012	a0001c0001t0003 a0001c0001t0009 a0001c0001t0017 others(3): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0005c0012t0003	a0001c0001t0003g0001 a0001c0001t0003g0010 a0001c0001t0003g0051 others(37): Show a0001c0001t0003g0001 a0001c0001t0003g0010 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0009g0057 a0001c0001t0009g0058 a0001c0001t0009g0059 a0001c0001t0009g0060 a0001c0001t0009g0087 a0001c0001t0017g0069 a0001c0001t0018g0076 a0001c0001t0019g0063 a0005c0012t0003g0072	45	72	0.6250	-23	c.154 others(40): Show c.1542+116_1542+138delAAAAAAAAAAAAAAAAAAAAAAA	MCMBP	ENSG00000197771.13	transcript	ENST00000369077.4	protein_coding	13/15			chr10	TogoVar
MCPH1_chr8_6401627_6653508	6426547	TTCTATTG others(16): Show TTCTATTGTAGGCATGTAGCTTGG	T T	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0002 a0002	a0002c0067 a0002c0067	a0002c0067t0002 a0002c0067t0002	a0002c0067t0002g0106 a0002c0067t0002g0106	1	260	0.0038	-23	c.234 others(40): Show c.234-4950_234-4928delCTATTGTAGGCATGTAGCTTGGT	MCPH1	ENSG00000147316.15	transcript	ENST00000344683.10	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
MCPH1_chr8_6401627_6653508	6576682	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00735.hp1 HG01070.hp2 others(19): Show HG00544.hp1 HG00735.hp1 HG01070.hp2 HG01106.hp2 HG01433.hp1 HG02004.hp1 HG02040.hp1 HG02080.hp2 HG02738.hp1 HG03239.hp2 HG03688.hp1 HG03927.hp2 HG04204.hp2 NA18945.hp1 NA18951.hp2 NA18956.hp1 NA18989.hp1 NA19005.hp1 NA19007.hp2 NA19054.hp2 NA19070.hp2 NA19088.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0007 a0011 a0016	a0001c0001 a0002c0002 a0003c0005 others(6): Show a0001c0001 a0002c0002 a0003c0005 a0003c0016 a0004c0006 a0005c0004 a0007c0085 a0011c0011 a0016c0084	a0001c0001t0001 a0001c0001t0005 a0001c0001t0012 others(15): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0012 a0001c0001t0024 a0002c0002t0002 a0002c0002t0008 a0002c0002t0021 a0002c0002t0057 a0003c0005t0006 a0003c0005t0069 a0003c0016t0017 a0003c0016t0065 a0004c0006t0002 a0004c0006t0021 a0005c0004t0001 a0007c0085t0026 a0011c0011t0002 a0016c0084t0005	a0001c0001t0001g0197 a0001c0001t0005g0024 a0001c0001t0012g0015 others(19): Show a0001c0001t0001g0197 a0001c0001t0005g0024 a0001c0001t0012g0015 a0001c0001t0024g0260 a0002c0002t0002g0077 a0002c0002t0002g0151 a0002c0002t0002g0183 a0002c0002t0008g0071 a0002c0002t0021g0204 a0002c0002t0057g0142 a0003c0005t0006g0012 a0003c0005t0006g0108 a0003c0005t0006g0170 a0003c0005t0069g0144 a0003c0016t0017g0138 a0003c0016t0065g0125 a0004c0006t0002g0090 a0004c0006t0021g0081 a0005c0004t0001g0092 a0007c0085t0026g0134 a0011c0011t0002g0246 a0016c0084t0005g0028	22	32	0.6875	-23	c.221 others(44): Show c.2215-44749_2215-44727delTTTTTTTTTTTTTTTTTTTTTTT	MCPH1	ENSG00000147316.15	transcript	ENST00000344683.10	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
MCRIP1_chr17_81817361_81838291	81819892	GTCCCCTC others(16): Show GTCCCCTCCCCCTCCTCACCCCAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00423.hp2 HG00438.hp1 others(147): Show HG00323.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp2 HG00642.hp1 HG00642.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01106.hp1 HG01167.hp2 HG01192.hp2 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02015.hp1 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp2 HG02717.hp1 HG02809.hp1 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02976.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03927.hp1 HG04115.hp1 NA18747.hp1 NA18906.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18954.hp2 NA18956.hp1 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18973.hp2 NA18977.hp2 NA18980.hp1 NA18986.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18998.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19070.hp2 NA19078.hp1 NA19078.hp2 NA19088.hp2 NA19089.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0012	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(85): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0120 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0002g0012 a0001c0001t0002g0017 a0001c0001t0002g0023 a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0003g0013 a0001c0001t0003g0025 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0068 a0001c0001t0004g0095 a0001c0001t0004g0100 a0001c0001t0004g0102 a0001c0001t0006g0041 a0001c0001t0012g0077	150	364	0.4121	-23	c.33 others(34): Show c.3332_*3354delTTGGGGTGAGGAGGGGGAGGGGA	MCRIP1	ENSG00000225663.8	transcript	ENST00000455127.7	protein_coding		2468		chr17	TogoVar
MCTP1_chr5_94698690_95290094	94986192	AAATGGCT others(16): Show AAATGGCTGCAAAAGTAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0097 a0001c0010t0002g0097	1	98	0.0102	-23	c.838 others(42): Show c.838+31152_838+31174delATTTATTTACTTTTGCAGCCATT	MCTP1	ENSG00000175471.20	transcript	ENST00000515393.6	protein_coding	2/22			chr5	TogoVar
MCTP1_chr5_94698690_95290094	95201464	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG02895.hp2 others(5): Show HG00099.hp1 HG00099.hp2 HG02895.hp2 NA18612.hp2 NA18948.hp1 NA18964.hp1 NA18970.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007	a0001c0001t0003 a0001c0002t0001 a0001c0002t0036 others(5): Show a0001c0001t0003 a0001c0002t0001 a0001c0002t0036 a0001c0003t0003 a0001c0003t0011 a0001c0004t0001 a0001c0006t0034 a0001c0007t0011	a0001c0001t0003g0077 a0001c0002t0001g0075 a0001c0002t0036g0083 others(5): Show a0001c0001t0003g0077 a0001c0002t0001g0075 a0001c0002t0036g0083 a0001c0003t0003g0069 a0001c0003t0011g0086 a0001c0004t0001g0087 a0001c0006t0034g0055 a0001c0007t0011g0070	8	11	0.7273	-23	c.720 others(42): Show c.720+82369_720+82391delAAAAAAAAAAAAAAAAAAAAAAA	MCTP1	ENSG00000175471.20	transcript	ENST00000515393.6	protein_coding	1/22			chr5	TogoVar
MDC1_chr6_30694807_30722281	30721940	ATCCTGGG others(16): Show ATCCTGGGCAACAAAGCGAGACCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	412	0.0024	-23	c.-47 others(34): Show c.-4722_-4700delGGGTCTCGCTTTGTTGCCCAGGA	MDC1	ENSG00000137337.16	transcript	ENST00000376406.8	protein_coding		4660		chr6	TogoVar
ME3_chr11_86436108_86677616	86521395	AAAAACAA others(16): Show AAAAACAAACAAACAAAACAAAAC	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01069.hp1 HG03209.hp2 HG00741.hp2 HG01069.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0096 a0001c0001t0002g0289 a0001c0002t0001g0137 a0001c0001t0001g0096 a0001c0001t0002g0289 a0001c0002t0001g0137	3	318	0.0094	-23	c.468 others(42): Show c.468-12551_468-12529delGTTTTGTTTTGTTTGTTTGTTTT	ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	4/14			chr11	TogoVar
MEAF6_chr1_37484993_37519766	37495684	CAAAAAAA others(16): Show CAAAAAAAAAAAACAAAAAACAAA	C C	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0279 a0001c0001t0048g0279	1	236	0.0042	-23	c.567 others(38): Show c.567+178_567+200delTTTGTTTTTTGTTTTTTTTTTTT	MEAF6	ENSG00000163875.16	transcript	ENST00000296214.10	protein_coding	6/6			chr1	TogoVar
MECOM_chr3_169078507_169668712	169191719	AAAAAGAA others(16): Show AAAAAGAAAGAAAGAAAGAAAGAG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02896.hp2 HG02897.hp1 others(4): Show HG02622.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 NA18962.hp2 NA18966.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0031 a0001c0003t0007	a0001c0001t0001g0131 a0001c0001t0006g0099 a0001c0001t0008g0094 others(4): Show a0001c0001t0001g0131 a0001c0001t0006g0099 a0001c0001t0008g0094 a0001c0001t0008g0095 a0001c0001t0011g0058 a0001c0001t0031g0110 a0001c0003t0007g0079	7	118	0.0593	-23	c.376 others(42): Show c.376-47910_376-47888delCTCTTTCTTTCTTTCTTTCTTTT	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	2/16			chr3	TogoVar
MECOM_chr3_169078507_169668712	169263106	TATATATA others(16): Show TATATATATATATATATATATATG	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02572.hp2 NA19030.hp1 HG02258.hp1 HG02572.hp2 NA19030.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0013 a0001c0001 a0002c0002 a0004c0013	a0001c0001t0026 a0002c0002t0001 a0004c0013t0003 a0001c0001t0026 a0002c0002t0001 a0004c0013t0003	a0001c0001t0026g0072 a0002c0002t0001g0128 a0004c0013t0003g0055 a0001c0001t0026g0072 a0002c0002t0001g0128 a0004c0013t0003g0055	3	160	0.0188	-23	c.375 others(44): Show c.375+118058_375+118080delCATATATATATATATATATATAT	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	2/16			chr3	TogoVar
MECOM_chr3_169078507_169668712	169378503	AAGAAAGA others(16): Show AAGAAAGAAAGAAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03486.hp2 HG03834.hp1 others(2): Show HG03098.hp2 HG03486.hp2 HG03834.hp1 HG04115.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 a0001c0001 a0001c0003 a0001c0007	a0001c0001t0005 a0001c0001t0028 a0001c0001t0039 others(2): Show a0001c0001t0005 a0001c0001t0028 a0001c0001t0039 a0001c0003t0004 a0001c0007t0012	a0001c0001t0005g0041 a0001c0001t0028g0086 a0001c0001t0039g0157 others(2): Show a0001c0001t0005g0041 a0001c0001t0028g0086 a0001c0001t0039g0157 a0001c0003t0004g0023 a0001c0007t0012g0011	5	113	0.0442	-23	c.375 others(40): Show c.375+2661_375+2683delCTTTCTTTCTTTTCTTTCTTTCT	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	2/16			chr3	TogoVar
MECOM_chr3_169078507_169668712	169378507	AAGAAAGA others(16): Show AAGAAAGAAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG03225.hp1 HG00738.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0012 a0001c0001t0011 a0001c0001t0012	a0001c0001t0011g0066 a0001c0001t0012g0009 a0001c0001t0011g0066 a0001c0001t0012g0009	2	134	0.0149	-23	c.375 others(40): Show c.375+2657_375+2679delCTTTCTTTCTTTCTTTTCTTTCT	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	2/16			chr3	TogoVar
MECOM_chr3_169078507_169668712	169378511	AAGAAAAG others(16): Show AAGAAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0101 a0001c0004t0006g0101	1	149	0.0067	-23	c.375 others(40): Show c.375+2653_375+2675delCTTTCTTTCTTTCTTTCTTTTCT	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	2/16			chr3	TogoVar
MED13L_chr12_115953576_116282693	116031727	AAAGAAAA others(16): Show AAAGAAAAGAAAAGAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	249	0.0040	-23	c.480 others(40): Show c.480-9149_480-9127delCTTTTCTTTTCTTTTCTTTTCTT	MED13L	ENSG00000123066.9	transcript	ENST00000281928.9	protein_coding	4/30			chr12	TogoVar
MED13L_chr12_115953576_116282693	116031744	AGAAAAGA others(16): Show AGAAAAGAAAAGAAAAGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA18984.hp2 HG03130.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0220 a0001c0003t0001g0113 a0001c0001t0001g0220 a0001c0003t0001g0113	2	228	0.0088	-23	c.480 others(40): Show c.480-9166_480-9144delCTTCCTTCTTTTCTTTTCTTTTC	MED13L	ENSG00000123066.9	transcript	ENST00000281928.9	protein_coding	4/30			chr12	TogoVar
MED13_chr17_61937605_62070278	62015936	ATATATAT others(16): Show ATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp2 HG01261.hp1 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0201 a0001c0001t0001g0160 a0001c0001t0001g0201	2	321	0.0062	-23	c.128 others(42): Show c.1284-4726_1284-4704delAAAAATATATATATATATATATA	MED13	ENSG00000108510.10	transcript	ENST00000397786.7	protein_coding	8/29			chr17	TogoVar
MED1_chr17_39399285_39456263	39402263	TGCCGCCG others(16): Show TGCCGCCGCGCCTCCGCGGTTGCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02145.hp1 HG02486.hp2 HG02055.hp1 HG02145.hp1 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0012 a0001c0004t0001g0013 a0001c0004t0001g0014 a0001c0001t0001g0012 a0001c0004t0001g0013 a0001c0004t0001g0014	3	278	0.0108	-23	c.51 others(34): Show c.5189_*5211delGGCAACCGCGGAGGCGCGGCGGC	MED1	ENSG00000125686.12	transcript	ENST00000300651.11	protein_coding		2021		chr17	TogoVar
MED28_chr4_17609641_17639105	17632043	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04228.hp2 NA19058.hp1 HG04228.hp2 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0057 a0001c0001t0006 a0001c0001t0057	a0001c0001t0006g0020 a0001c0001t0057g0002 a0001c0001t0006g0020 a0001c0001t0057g0002	2	3	0.6667	-23	c.82 others(34): Show c.8267_*8289delTTTTTTTTTTTTTTTTTTTTTTT	MED28	ENSG00000118579.13	transcript	ENST00000237380.12	protein_coding	4/4	8267	INFO_REALIGN_3_PRIME	chr4	TogoVar
MED29_chr19_39386378_39405641	39393072	CTTTCTTT others(16): Show CTTTCTTTTCTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0030 a0001c0001t0004g0030	1	290	0.0034	-23	c.276 others(38): Show c.276-477_276-455delCTTTTCTTTTTTTTTTTTTTTTT	MED29	ENSG00000063322.15	transcript	ENST00000315588.11	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
MEF2A_chr15_99560984_99721488	99701376	TCAAAACA others(16): Show TCAAAACAAGTTGTCAAGGTCATG	T T	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0322 a0003c0003t0002g0322	1	374	0.0027	-23	c.859 others(40): Show c.859-1962_859-1940delCAAAACAAGTTGTCAAGGTCATG	MEF2A	ENSG00000068305.19	transcript	ENST00000557942.6	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
MEF2B_chr19_19140567_19175263	19171284	GAGGGCAT others(16): Show GAGGGCATTTGTGCTGGGCTTTCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0330 a0001c0001t0001g0330	1	402	0.0025	-23	c.-11 others(34): Show c.-1132_-1110delTGAAAGCCCAGCACAAATGCCCT	MEF2B	ENSG00000213999.17	transcript	ENST00000424583.7	protein_coding		1022		chr19	TogoVar
MEGF10_chr5_127285796_127466222	127434912	CATGTTTT others(16): Show CATGTTTTCAGCTGTCTGCTGGGA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00408.hp2 others(29): Show HG00099.hp1 HG00323.hp1 HG00408.hp2 HG00423.hp1 HG01106.hp1 HG01257.hp2 HG01258.hp2 HG02040.hp2 HG02071.hp2 HG02083.hp2 HG02155.hp2 HG02683.hp2 HG02738.hp2 HG03492.hp1 HG03669.hp2 HG03834.hp2 HG04204.hp1 NA18939.hp2 NA18949.hp1 NA18966.hp2 NA18970.hp1 NA18971.hp1 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18986.hp2 NA18987.hp1 NA19012.hp2 NA19056.hp2 NA19060.hp1 NA19068.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0001c0026 a0002c0003 a0001c0005 a0001c0026 a0002c0003	a0001c0005t0007 a0001c0005t0016 a0001c0026t0016 others(3): Show a0001c0005t0007 a0001c0005t0016 a0001c0026t0016 a0002c0003t0006 a0002c0003t0009 a0002c0003t0015	a0001c0005t0007g0021 a0001c0005t0007g0023 a0001c0005t0007g0024 others(28): Show a0001c0005t0007g0021 a0001c0005t0007g0023 a0001c0005t0007g0024 a0001c0005t0007g0025 a0001c0005t0007g0027 a0001c0005t0007g0029 a0001c0005t0007g0030 a0001c0005t0007g0031 a0001c0005t0007g0034 a0001c0005t0007g0179 a0001c0005t0016g0083 a0001c0026t0016g0081 a0002c0003t0006g0001 a0002c0003t0006g0010 a0002c0003t0006g0012 a0002c0003t0006g0013 a0002c0003t0006g0014 a0002c0003t0006g0015 a0002c0003t0006g0016 a0002c0003t0006g0017 a0002c0003t0006g0156 a0002c0003t0009g0047 a0002c0003t0009g0105 a0002c0003t0009g0108 a0002c0003t0009g0109 a0002c0003t0009g0110 a0002c0003t0009g0123 a0002c0003t0009g0126 a0002c0003t0015g0018 a0002c0003t0015g0134 a0002c0003t0015g0219	32	266	0.1203	-23	c.197 others(39): Show c.1975+96_1975+118delTTTCAGCTGTCTGCTGGGAATGT	MEGF10	ENSG00000145794.17	transcript	ENST00000503335.7	protein_coding	15/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
MEGF11_chr15_65890299_66258750	65973196	GGTAAAAG others(16): Show GGTAAAAGGAATCCCAGGATAGCA	G G	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG04204.hp1 HG02698.hp2 HG04204.hp1	a0001 a0002 a0001 a0002	a0001c0022 a0002c0015 a0001c0022 a0002c0015	a0001c0022t0010 a0002c0015t0014 a0001c0022t0010 a0002c0015t0014	a0001c0022t0010g0094 a0002c0015t0014g0167 a0001c0022t0010g0094 a0002c0015t0014g0167	2	174	0.0115	-23	c.763 others(40): Show c.763-2530_763-2508delTGCTATCCTGGGATTCCTTTTAC	MEGF11	ENSG00000157890.19	transcript	ENST00000395614.6	protein_coding	7/25			chr15	TogoVar
MEGF11_chr15_65890299_66258750	66107938	AGGGGCTG others(16): Show AGGGGCTGCAATCAAGACAGGGCC	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02486.hp2 HG02818.hp2 others(8): Show HG01109.hp1 HG02486.hp2 HG02818.hp2 HG03130.hp2 HG03139.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0013	a0001c0001 a0002c0002 a0002c0005 others(3): Show a0001c0001 a0002c0002 a0002c0005 a0002c0016 a0008c0009 a0013c0014	a0001c0001t0001 a0001c0001t0005 a0002c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0005 a0002c0002t0001 a0002c0005t0001 a0002c0005t0002 a0002c0016t0001 a0008c0009t0001 a0013c0014t0013	a0001c0001t0001g0042 a0001c0001t0001g0067 a0001c0001t0005g0009 others(8): Show a0001c0001t0001g0042 a0001c0001t0001g0067 a0001c0001t0005g0009 a0002c0002t0001g0015 a0002c0002t0001g0027 a0002c0005t0001g0012 a0002c0005t0002g0152 a0002c0016t0001g0002 a0008c0009t0001g0003 a0008c0009t0001g0004 a0013c0014t0013g0029	11	174	0.0632	-23	c.301 others(42): Show c.301+11125_301+11147delGGCCCTGTCTTGATTGCAGCCCC	MEGF11	ENSG00000157890.19	transcript	ENST00000395614.6	protein_coding	4/25			chr15	TogoVar
MEI4_chr6_77648039_77932045	77905475	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00408.hp1 others(126): Show HG00099.hp1 HG00140.hp2 HG00408.hp1 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00621.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01175.hp2 HG01243.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01358.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02027.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp2 HG02165.hp2 HG02273.hp2 HG02293.hp1 HG02451.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02698.hp1 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03453.hp2 HG03486.hp1 HG03540.hp2 HG03579.hp2 HG03831.hp1 HG03834.hp2 HG04115.hp2 HG04199.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp2 NA18941.hp1 NA18943.hp2 NA18947.hp2 NA18954.hp1 NA18955.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18968.hp1 NA18970.hp2 NA18975.hp1 NA18980.hp2 NA18982.hp1 NA18987.hp1 NA18990.hp1 NA18994.hp1 NA18998.hp2 NA19000.hp1 NA19001.hp2 NA19002.hp2 NA19003.hp1 NA19005.hp1 NA19006.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19060.hp2 NA19065.hp2 NA19066.hp2 NA19070.hp2 NA19074.hp1 NA19087.hp2 NA19090.hp2 NA19240.hp2 NA20129.hp2 NA21309.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0006 a0001c0008 others(2): Show a0001c0001 a0001c0006 a0001c0008 a0003c0004 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0027 a0001c0001t0029 a0001c0001t0031 a0001c0006t0001 a0001c0008t0001 a0003c0004t0008 a0005c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(126): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0055 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0122 a0001c0001t0001g0137 a0001c0001t0001g0210 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0297 a0001c0001t0001g0314 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0355 a0001c0001t0001g0359 a0001c0001t0002g0057 a0001c0001t0002g0123 a0001c0001t0003g0019 a0001c0001t0003g0022 a0001c0001t0006g0015 a0001c0001t0006g0016 a0001c0001t0006g0024 a0001c0001t0006g0025 a0001c0001t0006g0031 a0001c0001t0006g0038 a0001c0001t0006g0045 a0001c0001t0006g0076 a0001c0001t0006g0094 a0001c0001t0006g0125 a0001c0001t0006g0127 a0001c0001t0006g0185 a0001c0001t0006g0214 a0001c0001t0006g0215 a0001c0001t0006g0216 a0001c0001t0006g0239 a0001c0001t0006g0240 a0001c0001t0006g0290 a0001c0001t0006g0307 a0001c0001t0006g0308 a0001c0001t0006g0309 a0001c0001t0006g0310 a0001c0001t0006g0311 a0001c0001t0006g0360 a0001c0001t0007g0217 a0001c0001t0007g0221 a0001c0001t0007g0224 a0001c0001t0007g0228 a0001c0001t0007g0229 a0001c0001t0007g0345 a0001c0001t0007g0356 a0001c0001t0008g0234 a0001c0001t0008g0334 a0001c0001t0008g0336 a0001c0001t0008g0337 a0001c0001t0010g0260 a0001c0001t0012g0126 a0001c0001t0012g0226 a0001c0001t0027g0243 a0001c0001t0029g0020 a0001c0001t0031g0079 a0001c0006t0001g0315 a0001c0006t0001g0348 a0001c0006t0001g0349 a0001c0008t0001g0248 a0003c0004t0008g0327 a0003c0004t0008g0335 a0003c0004t0008g0338 a0003c0004t0008g0339 a0003c0004t0008g0340 a0003c0004t0008g0341 a0003c0004t0008g0358 a0005c0005t0001g0013 a0005c0005t0001g0023 a0005c0005t0001g0353	129	141	0.9149	-23	c.901 others(42): Show c.901-17597_901-17575delTTTTTTTTTTTTTTTTTTTTTTT	MEI4	ENSG00000269964.4	transcript	ENST00000684080.1	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar

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