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
MCF2L_chr13_112964214_113104742	113025558	AGTCTCTG others(20): Show AGTCTCTGGGAGGTTTCATCATGGTGGG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03195.hp1 HG01243.hp1 HG03195.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0009 a0001c0001 a0003c0009	a0001c0001t0001 a0003c0009t0011 a0001c0001t0001 a0003c0009t0011	a0001c0001t0001g0002 a0003c0009t0011g0101 a0001c0001t0001g0002 a0003c0009t0011g0101	2	103	0.0194	-27	c.278 others(42): Show c.278+804_278+830delTCTGGGAGGTTTCATCATGGTGGGGTC	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
MCF2L_chr13_112964214_113104742	113055383	CACACACA others(20): Show CACACACACACACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01361.hp1 HG02109.hp2 HG01257.hp1 HG01361.hp1 HG02109.hp2	a0001 a0001	a0001c0005 a0001c0008 a0001c0005 a0001c0008	a0001c0005t0001 a0001c0008t0003 a0001c0005t0001 a0001c0008t0003	a0001c0005t0001g0079 a0001c0005t0001g0081 a0001c0008t0003g0039 a0001c0005t0001g0079 a0001c0005t0001g0081 a0001c0008t0003g0039	3	87	0.0345	-27	c.370 others(44): Show c.370-5209_370-5183delACACACACACACACACACACACACACA	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	4/29			chr13	TogoVar
MCF2L_chr13_112964214_113104742	113055385	CACACACA others(20): Show CACACACACACACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01070.hp1 HG01070.hp2 others(29): Show HG00323.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01175.hp1 HG01346.hp2 HG01361.hp2 HG01496.hp2 HG01891.hp1 HG02109.hp1 HG02145.hp1 HG02572.hp1 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG03017.hp1 HG03209.hp1 HG03490.hp2 HG03492.hp2 HG03688.hp2 HG03834.hp2 HG04115.hp2 HG06807.hp1 HG06807.hp2 NA19066.hp1 NA19066.hp2 NA19081.hp2 NA19240.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0008 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0017 a0001c0001t0027 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0015 a0001c0002t0016 a0001c0004t0001 a0001c0004t0003 a0001c0004t0004 a0001c0006t0002 a0001c0008t0003 a0002c0007t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0030 others(29): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0069 a0001c0001t0002g0046 a0001c0001t0002g0116 a0001c0001t0004g0070 a0001c0001t0007g0026 a0001c0001t0007g0035 a0001c0001t0008g0048 a0001c0001t0008g0064 a0001c0001t0017g0058 a0001c0001t0027g0034 a0001c0002t0001g0036 a0001c0002t0001g0068 a0001c0002t0001g0071 a0001c0002t0002g0093 a0001c0002t0005g0059 a0001c0002t0015g0007 a0001c0002t0016g0052 a0001c0004t0001g0025 a0001c0004t0003g0009 a0001c0004t0004g0044 a0001c0006t0002g0041 a0001c0008t0003g0042 a0002c0007t0001g0072 a0002c0007t0001g0076	32	89	0.3596	-27	c.370 others(44): Show c.370-5207_370-5181delACACACACACACACACACACACACACA	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	4/29			chr13	TogoVar
MCF2_chrX_139576770_139713167	139709442	CATATACT others(20): Show CATATACTATGTATATAGTATATGCTAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG01496.hp2 HG02132.hp1 others(22): Show HG01261.hp1 HG01496.hp2 HG02132.hp1 HG02273.hp1 HG02280.hp1 HG02523.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02809.hp2 HG03098.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03540.hp2 HG06807.hp1 HG06807.hp2 NA18971.hp1 NA18980.hp1 NA18982.hp1 NA19007.hp1 NA19056.hp1 NA19058.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0002c0004 others(1): Show a0001c0001 a0001c0002 a0002c0004 a0004c0008	a0001c0001t0001 a0001c0002t0001 a0002c0004t0003 others(1): Show a0001c0001t0001 a0001c0002t0001 a0002c0004t0003 a0004c0008t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(22): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0023 a0001c0001t0001g0123 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0160 a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0143 a0001c0002t0001g0152 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0162 a0002c0004t0003g0190 a0004c0008t0001g0024	25	247	0.1012	-27	c.-14 others(38): Show c.-1408_-1382delATAGCATATACTATATACATAGTATAT	MCF2	ENSG00000101977.22	transcript	ENST00000519895.6	protein_coding		1276		chrX	TogoVar
MCPH1_chr8_6401627_6653508	6505212	TATATATA others(20): Show TATATATATATTCTTATGTATATATAGA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00639.hp1 HG00735.hp2 others(43): Show HG00438.hp2 HG00639.hp1 HG00735.hp2 HG01167.hp2 HG01261.hp1 HG02004.hp1 HG02040.hp1 HG02145.hp2 HG02523.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02809.hp2 HG02922.hp2 HG02965.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03927.hp1 NA18522.hp1 NA18950.hp2 NA18964.hp2 NA18969.hp2 NA18971.hp2 NA19043.hp1 NA19055.hp1 NA19070.hp2 NA19079.hp2 NA19240.hp1 NA20300.hp1 NA21309.hp1	a0001 a0002 a0003 others(20): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0014 a0016 a0017 a0018 a0019 a0026 a0027 a0028 a0029 a0038 a0043	a0001c0001 a0001c0007 a0001c0022 others(33): Show a0001c0001 a0001c0007 a0001c0022 a0001c0088 a0002c0002 a0002c0034 a0002c0089 a0003c0005 a0003c0065 a0003c0066 a0004c0006 a0005c0004 a0006c0027 a0007c0013 a0008c0052 a0009c0037 a0009c0070 a0009c0093 a0010c0015 a0010c0026 a0011c0011 a0011c0096 a0012c0044 a0014c0024 a0016c0029 a0016c0084 a0017c0049 a0018c0057 a0019c0092 a0026c0082 a0027c0028 a0028c0058 a0029c0076 a0029c0077 a0038c0055 a0043c0061	a0001c0001t0001 a0001c0001t0019 a0001c0007t0001 others(39): Show a0001c0001t0001 a0001c0001t0019 a0001c0007t0001 a0001c0022t0001 a0001c0088t0009 a0002c0002t0014 a0002c0034t0016 a0002c0089t0052 a0003c0005t0068 a0003c0005t0069 a0003c0065t0006 a0003c0066t0007 a0004c0006t0021 a0005c0004t0001 a0005c0004t0011 a0006c0027t0011 a0007c0013t0026 a0008c0052t0043 a0009c0037t0004 a0009c0037t0072 a0009c0070t0029 a0009c0093t0077 a0010c0015t0006 a0010c0026t0010 a0011c0011t0001 a0011c0011t0002 a0011c0096t0001 a0012c0044t0004 a0014c0024t0007 a0016c0029t0002 a0016c0029t0013 a0016c0084t0005 a0017c0049t0007 a0018c0057t0071 a0019c0092t0004 a0026c0082t0016 a0027c0028t0022 a0028c0058t0025 a0029c0076t0007 a0029c0077t0017 a0038c0055t0027 a0043c0061t0076	a0001c0001t0001g0025 a0001c0001t0001g0169 a0001c0001t0001g0250 others(43): Show a0001c0001t0001g0025 a0001c0001t0001g0169 a0001c0001t0001g0250 a0001c0001t0019g0190 a0001c0007t0001g0130 a0001c0022t0001g0248 a0001c0088t0009g0188 a0002c0002t0014g0212 a0002c0034t0016g0191 a0002c0089t0052g0189 a0003c0005t0068g0145 a0003c0005t0069g0144 a0003c0065t0006g0249 a0003c0066t0007g0242 a0004c0006t0021g0081 a0005c0004t0001g0069 a0005c0004t0001g0070 a0005c0004t0011g0093 a0006c0027t0011g0225 a0007c0013t0026g0199 a0008c0052t0043g0240 a0009c0037t0004g0252 a0009c0037t0072g0253 a0009c0070t0029g0031 a0009c0093t0077g0254 a0010c0015t0006g0001 a0010c0026t0010g0050 a0011c0011t0001g0115 a0011c0011t0002g0246 a0011c0096t0001g0139 a0012c0044t0004g0219 a0014c0024t0007g0080 a0016c0029t0002g0045 a0016c0029t0013g0046 a0016c0084t0005g0028 a0017c0049t0007g0241 a0018c0057t0071g0216 a0019c0092t0004g0251 a0026c0082t0016g0059 a0027c0028t0022g0040 a0027c0028t0022g0041 a0028c0058t0025g0224 a0029c0076t0007g0002 a0029c0077t0017g0004 a0038c0055t0027g0214 a0043c0061t0076g0039	46	260	0.1769	-27	c.221 others(46): Show c.2214+5292_2214+5318delATTCTTATGTATATATAGAATATATA T	MCPH1	ENSG00000147316.15	transcript	ENST00000344683.10	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
MCPH1_chr8_6401627_6653508	6505949	ATGTATAT others(20): Show ATGTATATATAAAAACATACATATTCTT	A A	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0202 a0003c0003t0003g0202	1	260	0.0038	-27	c.221 others(46): Show c.2214+6039_2214+6065delCATATTCTTTGTATATATAAAAACAT A	MCPH1	ENSG00000147316.15	transcript	ENST00000344683.10	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
MCTP1_chr5_94698690_95290094	95061408	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0025 a0001c0013t0025	a0001c0013t0025g0015 a0001c0013t0025g0015	1	10	0.1000	-27	c.721 others(46): Show c.721-43951_721-43925delAAAAAAAAAAAAAAAAAAAAAAAAAA A	MCTP1	ENSG00000175471.20	transcript	ENST00000515393.6	protein_coding	1/22			chr5	TogoVar
MCTP1_chr5_94698690_95290094	95201464	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0073 a0001c0004t0001g0073	1	4	0.2500	-27	c.720 others(46): Show c.720+82365_720+82391delAAAAAAAAAAAAAAAAAAAAAAAAAA A	MCTP1	ENSG00000175471.20	transcript	ENST00000515393.6	protein_coding	1/22			chr5	TogoVar
MDFIC2_chr3_70189479_70317638	70211483	TTTCCCTT others(20): Show TTTCCCTTCCCTTCCCTTCCCTTTGCCC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp2 HG00733.hp1 others(44): Show HG00323.hp1 HG00639.hp2 HG00733.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp2 HG01257.hp1 HG01261.hp1 HG01346.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01952.hp1 HG01978.hp1 HG02004.hp1 HG02145.hp2 HG02258.hp2 HG02273.hp1 HG02300.hp2 HG02559.hp2 HG02683.hp1 HG02698.hp2 HG02735.hp2 HG02809.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03654.hp2 HG03710.hp1 HG03831.hp1 HG03942.hp2 HG04204.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 a0001c0001t0025 a0002c0002t0003	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0015 others(42): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0032 a0001c0001t0001g0054 a0001c0001t0001g0062 a0001c0001t0001g0080 a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0118 a0001c0001t0001g0124 a0001c0001t0001g0134 a0001c0001t0001g0153 a0001c0001t0001g0168 a0001c0001t0001g0181 a0001c0001t0001g0206 a0001c0001t0001g0221 a0001c0001t0001g0297 a0001c0001t0001g0330 a0001c0001t0001g0334 a0001c0001t0001g0336 a0001c0001t0001g0339 a0001c0001t0001g0341 a0001c0001t0006g0028 a0001c0001t0006g0043 a0001c0001t0006g0044 a0001c0001t0006g0075 a0001c0001t0006g0083 a0001c0001t0006g0091 a0001c0001t0006g0093 a0001c0001t0006g0224 a0001c0001t0006g0243 a0001c0001t0006g0333 a0001c0001t0010g0090 a0001c0001t0010g0358 a0001c0001t0025g0119 a0002c0002t0003g0007 a0002c0002t0003g0110 a0002c0002t0003g0122 a0002c0002t0003g0140 a0002c0002t0003g0142 a0002c0002t0003g0185 a0002c0002t0003g0293	47	368	0.1277	-27	c.89- others(42): Show c.89-4720_89-4694delGGGCAAAGGGAAGGGAAGGGAAGGGAA	MDFIC2	ENSG00000242120.4	transcript	ENST00000567252.2	protein_coding	2/3			chr3	TogoVar
MDGA1_chr6_37625679_37702883	37702219	GGAGGACA others(20): Show GGAGGACATTGCAGAGAGAGGGGATGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0032 a0003c0009t0032	a0003c0009t0032g0021 a0003c0009t0032g0021	1	400	0.0025	-27	c.-54 others(38): Show c.-5435_-5409delGCCATCCCCTCTCTCTGCAATGTCCTC	MDGA1	ENSG00000112139.17	transcript	ENST00000434837.8	protein_coding		4337		chr6	TogoVar
MDGA2_chr14_46835092_47680605	47017612	ATTCACAT others(20): Show ATTCACATGATTTCTTAAGAAAATTGTT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00741.hp1 others(20): Show HG00323.hp1 HG00323.hp2 HG00741.hp1 HG01074.hp2 HG01081.hp2 HG01192.hp2 HG01358.hp1 HG01891.hp2 HG01978.hp1 HG01978.hp2 HG02055.hp1 HG02135.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02965.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 NA18966.hp2 NA18993.hp2 NA19043.hp2 NA20129.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0005 a0002c0002 others(2): Show a0001c0001 a0001c0005 a0002c0002 a0003c0003 a0006c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0016 a0001c0001t0025 a0001c0001t0027 a0001c0005t0007 a0002c0002t0005 a0002c0002t0013 a0003c0003t0002 a0003c0003t0003 a0006c0007t0004	a0001c0001t0001g0037 a0001c0001t0001g0050 a0001c0001t0001g0062 others(20): Show a0001c0001t0001g0037 a0001c0001t0001g0050 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0072 a0001c0001t0001g0077 a0001c0001t0001g0094 a0001c0001t0001g0101 a0001c0001t0002g0066 a0001c0001t0002g0080 a0001c0001t0003g0038 a0001c0001t0006g0041 a0001c0001t0007g0005 a0001c0001t0007g0023 a0001c0001t0016g0002 a0001c0001t0025g0087 a0001c0001t0027g0054 a0001c0005t0007g0024 a0002c0002t0005g0105 a0002c0002t0013g0084 a0003c0003t0002g0036 a0003c0003t0003g0035 a0006c0007t0004g0009	23	120	0.1917	-27	c.181 others(48): Show c.1819+17372_1819+17398delAACAATTTTCTTAAGAAATCATGT GAA	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	8/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47155885	CTTCTTTT others(20): Show CTTCTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01169.hp1 others(14): Show HG01069.hp1 HG01071.hp2 HG01169.hp1 HG01496.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02451.hp1 HG02615.hp1 HG02647.hp1 HG02738.hp2 HG02818.hp1 HG02896.hp2 HG03017.hp1 HG03225.hp1 HG03225.hp2 HG03704.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0002c0010 others(1): Show a0001c0001 a0002c0002 a0002c0010 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0014 a0001c0001t0018 a0001c0001t0025 a0002c0002t0001 a0002c0002t0004 a0002c0002t0005 a0002c0010t0005 a0005c0009t0004	a0001c0001t0001g0072 a0001c0001t0002g0056 a0001c0001t0003g0092 others(14): Show a0001c0001t0001g0072 a0001c0001t0002g0056 a0001c0001t0003g0092 a0001c0001t0004g0015 a0001c0001t0008g0012 a0001c0001t0009g0090 a0001c0001t0012g0017 a0001c0001t0014g0095 a0001c0001t0014g0096 a0001c0001t0018g0022 a0001c0001t0025g0087 a0002c0002t0001g0114 a0002c0002t0004g0007 a0002c0002t0004g0008 a0002c0002t0005g0073 a0002c0010t0005g0119 a0005c0009t0004g0006	17	76	0.2237	-27	c.596 others(46): Show c.596-11638_596-11612delAAAAAAAAAAAAAAAAAAAAAAAAGA A	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	3/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47155888	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0064 a0001c0005t0001g0064	1	67	0.0149	-27	c.596 others(46): Show c.596-11641_596-11615delAAAAAAAAAAAAAAAAAAAAAAAAAA A	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	3/16			chr14	TogoVar
MDH2_chr7_76043106_76072508	76058483	CCTGAACC others(20): Show CCTGAACCCTGTATATACCATGTGTATA	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	396	0.0025	-27	c.429 others(42): Show c.429+430_429+456delATACTGAACCCTGTATATACCATGTGT	MDH2	ENSG00000146701.12	transcript	ENST00000315758.10	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
ME3_chr11_86436108_86677616	86591188	AGGAGTTG others(20): Show AGGAGTTGGAGGAGTTGGAGGAGTTGCT	A A	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0024 a0001c0002t0001g0024	1	318	0.0031	-27	c.184 others(46): Show c.184-31392_184-31366delAGCAACTCCTCCAACTCCTCCAACTC C	ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	2/14			chr11	TogoVar
MEAF6_chr1_37484993_37519766	37517861	CCTATTCA others(20): Show CCTATTCATTTCTTTACAATATTTATTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0037 a0001c0001t0014g0037	1	426	0.0023	-27	c.-31 others(38): Show c.-3142_-3116delAAATAAATATTGTAAAGAAATGAATAG	MEAF6	ENSG00000163875.16	transcript	ENST00000296214.10	protein_coding		3096		chr1	TogoVar
MECOM_chr3_169078507_169668712	169180776	GTGTGTGT others(20): Show GTGTGTGTGTGTGGAGATGATATATATA	G G	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0043 a0001c0001t0005g0043	1	160	0.0063	-27	c.376 others(46): Show c.376-36971_376-36945delTATATATATCATCTCCACACACACAC A	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	2/16			chr3	TogoVar
MECOM_chr3_169078507_169668712	169191715	AGAAAAAA others(20): Show AGAAAAAAAGAAAGAAAGAAAGAAAGAG	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02809.hp1 HG02723.hp1 HG02809.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0033 a0002c0002t0004 a0001c0001t0033 a0002c0002t0004	a0001c0001t0033g0143 a0002c0002t0004g0022 a0001c0001t0033g0143 a0002c0002t0004g0022	2	158	0.0127	-27	c.376 others(46): Show c.376-47910_376-47884delCTCTTTCTTTCTTTCTTTCTTTTTTT C	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	2/16			chr3	TogoVar
MECOM_chr3_169078507_169668712	169191719	AAAAAGAA others(20): Show AAAAAGAAAGAAAGAAAGAAAGAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA18968.hp2 HG02717.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0006 a0001c0009t0001 a0001c0001t0006 a0001c0009t0001	a0001c0001t0006g0097 a0001c0009t0001g0132 a0001c0001t0006g0097 a0001c0009t0001g0132	2	113	0.0177	-27	c.376 others(46): Show c.376-47914_376-47888delCTTTCTCTTTCTTTCTTTCTTTCTTT T	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	2/16			chr3	TogoVar
MECOM_chr3_169078507_169668712	169263100	TATATATA others(20): Show TATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0038	1	160	0.0063	-27	c.375 others(48): Show c.375+118060_375+118086delTATATATATATATATATATATATA TAT	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	2/16			chr3	TogoVar
MECOM_chr3_169078507_169668712	169263102	TATATATA others(20): Show TATATATATATATATATATATATATATG	T T	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0088 a0001c0001t0008g0088	1	160	0.0063	-27	c.375 others(48): Show c.375+118058_375+118084delCATATATATATATATATATATATA TAT	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	2/16			chr3	TogoVar
MECOM_chr3_169078507_169668712	169378486	AGAGAAAG others(20): Show AGAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0014 a0002c0002t0004g0014	1	145	0.0069	-27	c.375 others(44): Show c.375+2674_375+2700delCTTTCTTTCTTTCTTTCTTTCTTTCTC	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	2/16			chr3	TogoVar
MECOM_chr3_169078507_169668712	169378503	AAGAAAGA others(20): Show AAGAAAGAAAGAAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02056.hp1 HG02451.hp1 others(1): Show HG00438.hp1 HG02056.hp1 HG02451.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0001t0007 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0010 a0001c0012t0001	a0001c0001t0001g0137 a0001c0001t0007g0082 a0001c0001t0010g0140 others(1): Show a0001c0001t0001g0137 a0001c0001t0007g0082 a0001c0001t0010g0140 a0001c0012t0001g0136	4	112	0.0357	-27	c.375 others(44): Show c.375+2657_375+2683delCTTTCTTTCTTTCTTTTCTTTCTTTCT	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	2/16			chr3	TogoVar
MECOM_chr3_169078507_169668712	169378507	AAGAAAGA others(20): Show AAGAAAGAAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA19070.hp2 HG02886.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0014 a0001c0001t0002 a0001c0001t0014	a0001c0001t0002g0030 a0001c0001t0014g0148 a0001c0001t0002g0030 a0001c0001t0014g0148	2	134	0.0149	-27	c.375 others(44): Show c.375+2653_375+2679delCTTTCTTTCTTTCTTTCTTTTCTTTCT	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	2/16			chr3	TogoVar
MED12L_chr3_151080664_151441653	151115327	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA19084.hp2 HG02074.hp1 NA19084.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0048 a0001c0008t0002 a0001c0008t0048	a0001c0008t0002g0010 a0001c0008t0048g0009 a0001c0008t0002g0010 a0001c0008t0048g0009	2	19	0.1053	-27	c.100 others(42): Show c.100-998_100-972delTTTTTTTTTTTTTTTTTTTTTTTTTTT	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	2/44		INFO_REALIGN_3_PRIME	chr3	TogoVar
MED13L_chr12_115953576_116282693	116031725	GAAAAGAA others(20): Show GAAAAGAAAAGAAAAGAAAAGAAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0094 a0001c0005t0001g0094	1	248	0.0040	-27	c.480 others(44): Show c.480-9151_480-9125delTTCTTTTCTTTTCTTTTCTTTTCTTTT	MED13L	ENSG00000123066.9	transcript	ENST00000281928.9	protein_coding	4/30			chr12	TogoVar
MED13_chr17_61937605_62070278	62062578	AACACACA others(20): Show AACACACACACACACACACACACCACAC	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0309 a0001c0003t0001g0309	1	322	0.0031	-27	c.301 others(42): Show c.301+462_301+488delGTGTGGTGTGTGTGTGTGTGTGTGTGT	MED13	ENSG00000108510.10	transcript	ENST00000397786.7	protein_coding	2/29			chr17	TogoVar
MED22_chr9_133333312_133353131	133336153	ACGACTCA others(20): Show ACGACTCACACCTTCCCCGCTGCGCGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02647.hp1 HG02886.hp1 others(3): Show HG02572.hp2 HG02647.hp1 HG02886.hp1 HG03195.hp1 HG03225.hp1 HG06807.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0008 a0002c0002t0003g0059 a0002c0002t0003g0008 a0002c0002t0003g0059	6	422	0.0142	-27	c.53 others(38): Show c.5325_*5351delCACGCGCAGCGGGGAAGGTGTGAGTCG	MED22	ENSG00000148297.16	transcript	ENST00000343730.10	protein_coding		2158		chr9	TogoVar
MED28_chr4_17609641_17639105	17632042	AATTTTTT others(20): Show AATTTTTTTTTTTTTTTTTTTTTTTTTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0062 a0001c0001t0043g0062	1	326	0.0031	-27	c.82 others(38): Show c.8245_*8271delATTTTTTTTTTTTTTTTTTTTTTTTTT	MED28	ENSG00000118579.13	transcript	ENST00000237380.12	protein_coding	4/4	8245		chr4	TogoVar
MED28_chr4_17609641_17639105	17632043	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02109.hp1 HG02280.hp1 HG02451.hp2 others(15): Show HG02109.hp1 HG02280.hp1 HG02451.hp2 HG02559.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG03041.hp2 HG03098.hp2 HG03209.hp2 HG03540.hp1 HG03579.hp2 HG06807.hp2 NA18906.hp1 NA19043.hp1 NA19043.hp2 NA20129.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0026 a0001c0001t0070 others(14): Show a0001c0001t0012 a0001c0001t0026 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0086 a0001c0001t0087 a0001c0001t0088 a0001c0001t0089 a0001c0001t0090 a0001c0001t0127 a0001c0001t0128 a0001c0001t0129 a0001c0001t0130	a0001c0001t0012g0021 a0001c0001t0026g0015 a0001c0001t0026g0093 others(15): Show a0001c0001t0012g0021 a0001c0001t0026g0015 a0001c0001t0026g0093 a0001c0001t0070g0015 a0001c0001t0071g0095 a0001c0001t0072g0094 a0001c0001t0073g0092 a0001c0001t0074g0015 a0001c0001t0075g0015 a0001c0001t0086g0011 a0001c0001t0087g0011 a0001c0001t0088g0011 a0001c0001t0089g0011 a0001c0001t0090g0011 a0001c0001t0127g0028 a0001c0001t0128g0028 a0001c0001t0129g0029 a0001c0001t0130g0029	18	19	0.9474	-27	c.82 others(38): Show c.8263_*8289delTTTTTTTTTTTTTTTTTTTTTTTTTTT	MED28	ENSG00000118579.13	transcript	ENST00000237380.12	protein_coding	4/4	8263	INFO_REALIGN_3_PRIME	chr4	TogoVar
MED6_chr14_70578221_70605655	70588688	AAATAATA others(20): Show AAATAATAATAATAATAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02559.hp2 HG03041.hp2 others(1): Show HG02145.hp1 HG02559.hp2 HG03041.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0051 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0051 a0001c0001t0003g0137 a0001c0001t0003g0138	4	53	0.0755	-27	c.582 others(44): Show c.582+2551_582+2577delATTATTATTATTATTATTATTATTATT	MED6	ENSG00000133997.12	transcript	ENST00000256379.10	protein_coding	6/7			chr14	TogoVar
MEGF11_chr15_65890299_66258750	66020991	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02145.hp2 HG02572.hp2 others(7): Show HG00099.hp2 HG02145.hp2 HG02572.hp2 HG02723.hp1 HG02896.hp1 HG02976.hp1 HG03195.hp2 HG03225.hp2 HG03704.hp1 NA21309.hp1	a0001 a0002 a0013 a0001 a0002 a0013	a0001c0001 a0002c0002 a0013c0014 a0001c0001 a0002c0002 a0013c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0002c0002t0001 a0013c0014t0013	a0001c0001t0001g0050 a0001c0001t0001g0145 a0001c0001t0002g0174 others(7): Show a0001c0001t0001g0050 a0001c0001t0001g0145 a0001c0001t0002g0174 a0001c0001t0005g0133 a0002c0002t0001g0011 a0002c0002t0001g0028 a0002c0002t0001g0041 a0002c0002t0001g0084 a0002c0002t0001g0116 a0013c0014t0013g0029	10	11	0.9091	-27	c.395 others(46): Show c.395-38530_395-38504delTTTTTTTTTTTTTTTTTTTTTTTTTT T	MEGF11	ENSG00000157890.19	transcript	ENST00000395614.6	protein_coding	5/25			chr15	TogoVar
MEGF6_chr1_3482951_3616508	3513413	AGGTGTGC others(20): Show AGGTGTGCACCATCATGCTCAGCTAGTT	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0073 a0073	a0073c0127 a0073c0127	a0073c0127t0022 a0073c0127t0022	a0073c0127t0022g0071 a0073c0127t0022g0071	1	290	0.0034	-27	c.853 others(44): Show c.853+1110_853+1136delAACTAGCTGAGCATGATGGTGCACACC	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	7/36			chr1	TogoVar
MEGF6_chr1_3482951_3616508	3585948	AGGACGCA others(20): Show AGGACGCATGTCCTGTGTGTGGGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00438.hp1 others(77): Show HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00621.hp1 HG00673.hp1 HG01070.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01175.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01515.hp1 HG01891.hp1 HG01934.hp1 HG01952.hp1 HG01993.hp2 HG02015.hp1 HG02055.hp2 HG02074.hp1 HG02080.hp1 HG02145.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02273.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02965.hp2 HG02970.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03209.hp2 HG03239.hp2 HG03490.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG04199.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18949.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18980.hp1 NA18983.hp1 NA18998.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19057.hp1 NA19066.hp1 NA19067.hp2 NA19083.hp2 NA19090.hp1 NA20300.hp1 NA21309.hp1	a0001 a0002 a0003 others(31): Show a0001 a0002 a0003 a0004 a0007 a0008 a0009 a0010 a0012 a0014 a0017 a0019 a0020 a0021 a0022 a0023 a0024 a0037 a0038 a0039 a0043 a0045 a0055 a0056 a0072 a0074 a0075 a0077 a0078 a0079 a0087 a0090 a0093 a0095	a0001c0001 a0001c0007 a0002c0002 others(35): Show a0001c0001 a0001c0007 a0002c0002 a0003c0003 a0004c0004 a0007c0008 a0008c0021 a0008c0038 a0008c0040 a0009c0009 a0010c0010 a0012c0016 a0014c0012 a0017c0020 a0019c0017 a0020c0041 a0020c0116 a0021c0030 a0022c0032 a0023c0022 a0024c0034 a0037c0056 a0038c0039 a0039c0036 a0043c0044 a0045c0102 a0055c0117 a0056c0093 a0072c0073 a0074c0048 a0075c0055 a0077c0111 a0078c0124 a0079c0113 a0087c0096 a0090c0084 a0093c0075 a0095c0115	a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 others(49): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 a0001c0001t0025 a0001c0007t0010 a0001c0007t0014 a0002c0002t0001 a0002c0002t0004 a0002c0002t0007 a0002c0002t0019 a0003c0003t0001 a0003c0003t0014 a0003c0003t0040 a0004c0004t0002 a0007c0008t0001 a0008c0021t0001 a0008c0038t0001 a0008c0040t0011 a0008c0040t0059 a0009c0009t0005 a0009c0009t0012 a0010c0010t0001 a0012c0016t0003 a0012c0016t0017 a0014c0012t0002 a0017c0020t0028 a0019c0017t0015 a0019c0017t0038 a0020c0041t0002 a0020c0116t0042 a0021c0030t0030 a0022c0032t0008 a0023c0022t0012 a0024c0034t0004 a0037c0056t0062 a0038c0039t0031 a0039c0036t0026 a0039c0036t0027 a0043c0044t0018 a0045c0102t0001 a0055c0117t0009 a0056c0093t0013 a0072c0073t0031 a0074c0048t0008 a0075c0055t0005 a0077c0111t0001 a0078c0124t0003 a0079c0113t0056 a0087c0096t0007 a0090c0084t0044 a0093c0075t0001 a0095c0115t0001	a0001c0001t0001g0120 a0001c0001t0001g0162 a0001c0001t0001g0163 others(77): Show a0001c0001t0001g0120 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0175 a0001c0001t0001g0200 a0001c0001t0001g0257 a0001c0001t0006g0034 a0001c0001t0009g0157 a0001c0001t0025g0137 a0001c0001t0025g0138 a0001c0007t0010g0203 a0001c0007t0014g0176 a0002c0002t0001g0136 a0002c0002t0001g0143 a0002c0002t0004g0145 a0002c0002t0004g0210 a0002c0002t0007g0197 a0002c0002t0019g0287 a0003c0003t0001g0015 a0003c0003t0001g0016 a0003c0003t0001g0108 a0003c0003t0001g0165 a0003c0003t0001g0172 a0003c0003t0001g0177 a0003c0003t0001g0186 a0003c0003t0014g0121 a0003c0003t0014g0122 a0003c0003t0040g0180 a0004c0004t0002g0167 a0007c0008t0001g0063 a0007c0008t0001g0139 a0007c0008t0001g0140 a0007c0008t0001g0159 a0008c0021t0001g0017 a0008c0038t0001g0013 a0008c0040t0011g0206 a0008c0040t0059g0277 a0009c0009t0005g0158 a0009c0009t0005g0242 a0009c0009t0012g0261 a0009c0009t0012g0262 a0010c0010t0001g0170 a0010c0010t0001g0171 a0012c0016t0003g0117 a0012c0016t0003g0119 a0012c0016t0003g0168 a0012c0016t0017g0118 a0014c0012t0002g0220 a0017c0020t0028g0018 a0017c0020t0028g0205 a0019c0017t0015g0234 a0019c0017t0015g0237 a0019c0017t0038g0236 a0020c0041t0002g0111 a0020c0116t0042g0160 a0021c0030t0030g0269 a0022c0032t0008g0089 a0023c0022t0012g0233 a0024c0034t0004g0088 a0024c0034t0004g0090 a0037c0056t0062g0268 a0038c0039t0031g0286 a0039c0036t0026g0245 a0039c0036t0027g0204 a0043c0044t0018g0161 a0043c0044t0018g0166 a0045c0102t0001g0115 a0055c0117t0009g0012 a0056c0093t0013g0235 a0072c0073t0031g0290 a0074c0048t0008g0091 a0075c0055t0005g0239 a0077c0111t0001g0146 a0078c0124t0003g0064 a0079c0113t0056g0279 a0087c0096t0007g0229 a0090c0084t0044g0006 a0093c0075t0001g0114 a0095c0115t0001g0192	80	283	0.2827	-27	c.377 others(44): Show c.377-6046_377-6020delACACACCCACACACAGGACATGCGTCC	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MEIKIN_chr5_131801990_131950663	131849356	GAACCTCT others(20): Show GAACCTCTTTTCTTTATATATATAAAGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00544.hp2 HG00642.hp1 others(38): Show HG00099.hp2 HG00544.hp2 HG00642.hp1 HG00733.hp1 HG00741.hp2 HG01069.hp2 HG01099.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01256.hp2 HG01258.hp2 HG01884.hp2 HG01978.hp2 HG02040.hp1 HG02055.hp2 HG02109.hp2 HG02165.hp1 HG02257.hp2 HG02273.hp1 HG02280.hp1 HG02559.hp2 HG02647.hp1 HG02809.hp1 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03486.hp1 HG03540.hp2 HG03579.hp1 NA18953.hp1 NA19030.hp2 NA19043.hp2 NA19056.hp1 NA19066.hp2 NA19079.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0001 a0001c0004t0002 a0001c0001t0001 a0001c0002t0001 a0001c0004t0002	a0001c0001t0001g0001 a0001c0001t0001g0051 a0001c0001t0001g0065 others(35): Show a0001c0001t0001g0001 a0001c0001t0001g0051 a0001c0001t0001g0065 a0001c0001t0001g0086 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0116 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0165 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0002t0001g0005 a0001c0002t0001g0203 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0226 a0001c0002t0001g0229 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0249 a0001c0002t0001g0255 a0001c0002t0001g0282 a0001c0002t0001g0299 a0001c0002t0001g0300 a0001c0002t0001g0312 a0001c0002t0001g0337 a0001c0004t0002g0192	41	67	0.6119	-27	c.975 others(44): Show c.975+1881_975+1907delTCTTTATATATATAAAGAAAAGAGGTT	MEIKIN	ENSG00000239642.6	transcript	ENST00000442687.6	protein_coding	11/12			chr5	TogoVar
MELK_chr9_36567895_36682682	36621275	GAAAAAAA others(20): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01884.hp2 HG02280.hp2 others(18): Show HG01175.hp1 HG01884.hp2 HG02280.hp2 HG02486.hp1 HG02572.hp1 HG02647.hp2 HG02698.hp2 HG02738.hp2 HG02896.hp2 HG03831.hp2 HG04204.hp1 HG06807.hp1 NA18959.hp1 NA18967.hp1 NA18980.hp2 NA18983.hp1 NA18989.hp1 NA19011.hp1 NA19067.hp1 NA19083.hp2 NA19085.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0006t0001	a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 others(18): Show a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0002g0001 a0001c0002t0002g0134 a0001c0002t0002g0177 a0001c0002t0002g0195 a0001c0002t0002g0196 a0001c0002t0002g0197 a0001c0002t0002g0198 a0001c0002t0002g0199 a0001c0002t0002g0200 a0001c0002t0002g0201 a0001c0002t0002g0202 a0001c0002t0002g0203 a0001c0002t0006g0176 a0001c0006t0001g0190 a0001c0006t0001g0191 a0001c0006t0001g0192 a0001c0006t0001g0193	21	30	0.7000	-27	c.667 others(44): Show c.667-9008_667-8982delAAAAAAAAAAAAAAAAAAAAAAAAAAA	MELK	ENSG00000165304.8	transcript	ENST00000298048.7	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr9	TogoVar
MEMO1_chr2_31862823_32016008	31933252	TATTACAG others(20): Show TATTACAGTGAGCTATGATCACGCCCAC	T T	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG03927.hp1 HG04228.hp2 HG01361.hp1 HG03927.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233	3	302	0.0099	-27	c.144 others(44): Show c.144-1144_144-1118delGTGGGCGTGATCATAGCTCACTGTAAT	MEMO1	ENSG00000162959.14	transcript	ENST00000404530.6	protein_coding	3/9			chr2	TogoVar
METTL16_chr17_2411049_2516888	2428543	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0128 a0001c0001t0021g0128	1	296	0.0034	-27	c.889 others(44): Show c.889-7666_889-7640delATATATTTTTTTTTTTTTTTTTTTTTT	METTL16	ENSG00000127804.13	transcript	ENST00000263092.11	protein_coding	8/9			chr17	TogoVar
METTL27_chr7_73829590_73847516	73835179	TCCTCTCC others(20): Show TCCTCTCCCTCCTCTCCCTCTCCCTCTC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA18906.hp2 HG02451.hp1 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0121 a0002c0002t0001g0126 a0002c0002t0001g0121 a0002c0002t0001g0126	2	362	0.0055	-27	c.479 others(42): Show c.479-204_479-178delGAGAGGGAGAGGGAGAGGAGGGAGAGG	METTL27	ENSG00000165171.11	transcript	ENST00000297873.9	protein_coding	5/5			chr7	TogoVar
MGAM2_chr7_142106718_142227324	142183950	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	7	0.1429	-27	c.392 others(44): Show c.3924+591_3924+617delTTTTTTTTTTTTTTTTTTTTTTTTTTT	MGAM2	ENSG00000257743.9	transcript	ENST00000477922.4	protein_coding	33/47		INFO_REALIGN_3_PRIME	chr7	TogoVar
MGAM_chr7_141990879_142111747	142041901	TATATTAT others(20): Show TATATTATATATATACGTATAATATATA	T T	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0031 a0031	a0031c0036 a0031c0036	a0031c0036t0001 a0031c0036t0001	a0031c0036t0001g0183 a0031c0036t0001g0183	1	314	0.0032	-27	c.249 others(46): Show c.2498+1060_2498+1086delTATATATATACGTATAATATATAATA T	MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70		INFO_REALIGN_3_PRIME	chr7	TogoVar
MGAM_chr7_141990879_142111747	142041972	ATATATAT others(20): Show ATATATATATAATATAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	314	0.0032	-27	c.249 others(46): Show c.2498+1159_2498+1185delATATAATATAATATATATATATTATA T	MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70		INFO_REALIGN_3_PRIME	chr7	TogoVar
MGAM_chr7_141990879_142111747	142042166	TATATAAT others(20): Show TATATAATATATAACATATTATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01261.hp1 HG02602.hp1 others(7): Show HG00438.hp2 HG01261.hp1 HG02602.hp1 NA18942.hp2 NA18948.hp1 NA18961.hp2 NA18980.hp1 NA18990.hp2 NA19005.hp1 NA19088.hp1	a0001 a0036 a0001 a0036	a0001c0001 a0001c0003 a0001c0014 others(1): Show a0001c0001 a0001c0003 a0001c0014 a0036c0030	a0001c0001t0001 a0001c0003t0001 a0001c0014t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0014t0001 a0036c0030t0001	a0001c0001t0001g0132 a0001c0001t0001g0149 a0001c0001t0001g0164 others(7): Show a0001c0001t0001g0132 a0001c0001t0001g0149 a0001c0001t0001g0164 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0246 a0001c0001t0001g0280 a0001c0003t0001g0231 a0001c0014t0001g0283 a0036c0030t0001g0044	10	311	0.0322	-27	c.249 others(46): Show c.2498+1366_2498+1392delTATATATACATATAATATATAACATA T	MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70		INFO_REALIGN_3_PRIME	chr7	TogoVar
MGAM_chr7_141990879_142111747	142045404	TATATATT others(20): Show TATATATTATATATACCTATAATACATG	T T	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0124 a0001c0003t0001g0124	1	314	0.0032	-27	c.249 others(46): Show c.2499-2339_2499-2313delCCTATAATACATGATATATTATATAT A	MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70		INFO_REALIGN_3_PRIME	chr7	TogoVar
MGAM_chr7_141990879_142111747	142067959	TATATAAA others(20): Show TATATAAATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG03669.hp1 HG01361.hp1 HG03669.hp1	a0010 a0030 a0010 a0030	a0010c0023 a0030c0033 a0010c0023 a0030c0033	a0010c0023t0001 a0030c0033t0001 a0010c0023t0001 a0030c0033t0001	a0010c0023t0001g0046 a0030c0033t0001g0101 a0010c0023t0001g0046 a0030c0033t0001g0101	2	302	0.0066	-27	c.500 others(44): Show c.5004+535_5004+561delATATAAATATATATATATATATATATA	MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	42/70			chr7	TogoVar
MGAT1_chr5_180779780_180807806	180805233	ATTATCCA others(20): Show ATTATCCAGGAGGATAAACAGTCACAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00597.hp2 HG00621.hp1 others(130): Show HG00140.hp2 HG00597.hp2 HG00621.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01099.hp1 HG01123.hp1 HG01256.hp2 HG01258.hp2 HG01515.hp2 HG01517.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01981.hp2 HG01993.hp1 HG02027.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02155.hp2 HG02273.hp2 HG02280.hp1 HG02293.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp1 HG02922.hp2 HG02965.hp2 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG04184.hp1 HG04199.hp1 HG04228.hp1 NA18612.hp1 NA18906.hp1 NA18940.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp2 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18955.hp2 NA18957.hp1 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18965.hp2 NA18967.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18984.hp2 NA18985.hp1 NA18987.hp2 NA18988.hp1 NA18990.hp1 NA18991.hp2 NA18992.hp2 NA18993.hp2 NA18998.hp1 NA19003.hp1 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19064.hp1 NA19067.hp1 NA19070.hp2 NA19076.hp1 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA20752.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009	a0001c0001 a0001c0007 a0002c0002 others(9): Show a0001c0001 a0001c0007 a0002c0002 a0003c0003 a0003c0004 a0003c0006 a0003c0016 a0004c0011 a0004c0017 a0005c0009 a0006c0010 a0009c0014	a0001c0001t0002 a0001c0001t0012 a0001c0001t0025 others(66): Show a0001c0001t0002 a0001c0001t0012 a0001c0001t0025 a0001c0001t0045 a0001c0001t0046 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0071 a0001c0001t0072 a0001c0001t0123 a0001c0001t0136 a0001c0001t0137 a0001c0001t0138 a0001c0001t0141 a0001c0001t0142 a0001c0001t0143 a0001c0001t0144 a0001c0001t0145 a0001c0001t0146 a0001c0001t0149 a0001c0001t0153 a0001c0001t0154 a0001c0001t0155 a0001c0001t0156 a0001c0001t0157 a0001c0001t0158 a0001c0007t0028 a0002c0002t0002 a0002c0002t0012 a0002c0002t0147 a0003c0003t0003 a0003c0003t0005 a0003c0003t0021 a0003c0003t0031 a0003c0003t0035 a0003c0003t0048 a0003c0003t0063 a0003c0003t0064 a0003c0003t0073 a0003c0003t0074 a0003c0003t0075 a0003c0003t0076 a0003c0003t0077 a0003c0003t0078 a0003c0003t0079 a0003c0003t0148 a0003c0004t0003 a0003c0004t0005 a0003c0004t0029 a0003c0004t0030 a0003c0004t0039 a0003c0004t0061 a0003c0004t0065 a0003c0004t0067 a0003c0004t0068 a0003c0004t0069 a0003c0004t0070 a0003c0006t0003 a0003c0006t0005 a0003c0006t0066 a0003c0016t0051 a0004c0011t0110 a0004c0017t0003 a0005c0009t0139 a0005c0009t0140 a0006c0010t0058 a0006c0010t0059 a0009c0014t0060	a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0012 others(97): Show a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0012 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0218 a0001c0001t0012g0005 a0001c0001t0012g0274 a0001c0001t0012g0281 a0001c0001t0025g0047 a0001c0001t0025g0073 a0001c0001t0045g0049 a0001c0001t0046g0048 a0001c0001t0053g0273 a0001c0001t0054g0286 a0001c0001t0055g0082 a0001c0001t0071g0284 a0001c0001t0072g0285 a0001c0001t0123g0080 a0001c0001t0136g0208 a0001c0001t0137g0237 a0001c0001t0138g0283 a0001c0001t0141g0209 a0001c0001t0142g0210 a0001c0001t0143g0071 a0001c0001t0144g0213 a0001c0001t0145g0217 a0001c0001t0146g0211 a0001c0001t0149g0212 a0001c0001t0153g0277 a0001c0001t0154g0276 a0001c0001t0155g0275 a0001c0001t0156g0279 a0001c0001t0157g0282 a0001c0001t0158g0278 a0001c0007t0028g0059 a0002c0002t0002g0214 a0002c0002t0012g0280 a0002c0002t0147g0272 a0003c0003t0003g0021 a0003c0003t0003g0239 a0003c0003t0003g0243 a0003c0003t0003g0244 a0003c0003t0003g0250 a0003c0003t0003g0256 a0003c0003t0003g0261 a0003c0003t0003g0268 a0003c0003t0005g0017 a0003c0003t0005g0054 a0003c0003t0005g0055 a0003c0003t0005g0240 a0003c0003t0005g0241 a0003c0003t0005g0242 a0003c0003t0005g0248 a0003c0003t0021g0058 a0003c0003t0021g0249 a0003c0003t0031g0056 a0003c0003t0035g0259 a0003c0003t0048g0061 a0003c0003t0063g0271 a0003c0003t0064g0265 a0003c0003t0073g0251 a0003c0003t0074g0238 a0003c0003t0075g0255 a0003c0003t0076g0269 a0003c0003t0077g0246 a0003c0003t0078g0247 a0003c0003t0079g0266 a0003c0003t0148g0252 a0003c0004t0003g0260 a0003c0004t0005g0057 a0003c0004t0029g0223 a0003c0004t0029g0224 a0003c0004t0030g0245 a0003c0004t0030g0262 a0003c0004t0039g0258 a0003c0004t0061g0114 a0003c0004t0065g0065 a0003c0004t0067g0225 a0003c0004t0068g0220 a0003c0004t0069g0222 a0003c0004t0070g0221 a0003c0006t0003g0022 a0003c0006t0003g0253 a0003c0006t0003g0257 a0003c0006t0003g0263 a0003c0006t0003g0267 a0003c0006t0005g0254 a0003c0006t0066g0270 a0003c0016t0051g0066 a0004c0011t0110g0288 a0004c0017t0003g0264 a0005c0009t0139g0063 a0005c0009t0140g0064 a0006c0010t0058g0074 a0006c0010t0059g0075 a0009c0014t0060g0076	133	434	0.3065	-27	c.-27 others(38): Show c.-2707_-2681delCTTGTGACTGTTTATCCTCCTGGATAA	MGAT1	ENSG00000131446.17	transcript	ENST00000307826.5	protein_coding		2428		chr5	TogoVar
MGAT2_chr14_49615799_49628481	49627987	CTATAGAG others(20): Show CTATAGAGCCCATCAACTTCCTTACCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	354	0.0028	-27	c.53 others(38): Show c.5376_*5402delTATAGAGCCCATCAACTTCCTTACCTT	MGAT2	ENSG00000168282.6	transcript	ENST00000305386.4	protein_coding		4507		chr14	TogoVar
MGAT4B_chr5_179792610_179811866	179800847	AGCACAAC others(20): Show AGCACAACACCCCGCACCGAGCTCTCCC	A A	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0091 a0002c0004t0001g0091	1	410	0.0024	-27	c.605 others(40): Show c.605+33_605+59delGGGAGAGCTCGGTGCGGGGTGTTGTGC	MGAT4B	ENSG00000161013.17	transcript	ENST00000292591.12	protein_coding	5/14			chr5	TogoVar
MGAT5_chr2_134249072_134459621	134381355	ATAGATAG others(20): Show ATAGATAGATAGATAAGATAAGATAGAT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0021 a0001c0001t0045g0021	1	280	0.0036	-27	c.138 others(48): Show c.1380+18962_1380+18988delAGATAAGATAGATTAGATAGATAG ATA	MGAT5	ENSG00000152127.9	transcript	ENST00000281923.4	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MIB1_chr18_21735792_21875953	21738806	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp1 NA19001.hp2 NA19000.hp1 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0004 a0001c0001t0007	a0001c0001t0004g0035 a0001c0001t0007g0133 a0001c0001t0004g0035 a0001c0001t0007g0133	2	4	0.5000	-27	c.-27 others(38): Show c.-2777_-2751delAAAAAAAAAAAAAAAAAAAAAAAAAAA	MIB1	ENSG00000101752.13	transcript	ENST00000261537.7	protein_coding		1985		chr18	TogoVar

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