Joint Open Genome and Omics Platform (JoGo)

Search Results

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MAST2_chr1_45798612_46041122	45816221	A A	AAGAGAGA others(13): Show AAGAGAGAGAGAGAGAGAAAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(115): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00438.hp2 HG00609.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01257.hp2 HG01258.hp2 HG01515.hp1 HG01517.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp2 HG02080.hp2 HG02129.hp2 HG02135.hp2 HG02155.hp2 HG02257.hp2 HG02300.hp2 HG02523.hp1 HG02559.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp2 HG02717.hp2 HG02735.hp1 HG02818.hp1 HG02896.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03492.hp2 HG03540.hp1 HG03654.hp1 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG04115.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp2 NA18944.hp1 NA18947.hp1 NA18950.hp1 NA18952.hp1 NA18960.hp2 NA18962.hp2 NA18966.hp1 NA18968.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18974.hp2 NA18975.hp1 NA18977.hp1 NA18979.hp1 NA18981.hp2 NA18984.hp2 NA18986.hp1 NA18988.hp2 NA19000.hp1 NA19001.hp2 NA19002.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp2 NA19030.hp1 NA19060.hp2 NA19062.hp2 NA19065.hp2 NA19066.hp2 NA19068.hp2 NA19077.hp2 NA19079.hp2 NA19084.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA21309.hp1	a0001 a0007 a0008 others(3): Show a0001 a0007 a0008 a0009 a0012 a0014	a0001c0001 a0001c0015 a0001c0025 others(5): Show a0001c0001 a0001c0015 a0001c0025 a0007c0008 a0008c0010 a0009c0012 a0012c0016 a0014c0022	a0001c0001t0001 a0001c0015t0001 a0001c0025t0001 others(6): Show a0001c0001t0001 a0001c0015t0001 a0001c0025t0001 a0007c0008t0001 a0008c0010t0001 a0009c0012t0001 a0012c0016t0001 a0012c0016t0003 a0014c0022t0001	a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 others(115): Show a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0015t0001g0163 a0001c0015t0001g0164 a0001c0025t0001g0170 a0007c0008t0001g0154 a0007c0008t0001g0195 a0007c0008t0001g0196 a0007c0008t0001g0197 a0007c0008t0001g0207 a0007c0008t0001g0211 a0008c0010t0001g0016 a0008c0010t0001g0167 a0008c0010t0001g0168 a0008c0010t0001g0174 a0009c0012t0001g0226 a0009c0012t0001g0238 a0009c0012t0001g0241 a0012c0016t0001g0177 a0012c0016t0003g0155 a0014c0022t0001g0138	118	288	0.4097	20	c.178 others(37): Show c.178-8195_178-8194insAAGAGAGAGAGAGAGAGAGA	MAST2	ENSG00000086015.23	transcript	ENST00000361297.7	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAST2_chr1_45798612_46041122	45883912	G G	GCCTCCCC others(13): Show GCCTCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG01943.hp2 NA19062.hp2 HG01943.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0257 a0001c0001t0001g0204 a0001c0001t0001g0257	2	288	0.0069	20	c.500 others(37): Show c.500+1519_500+1520insTCCCCCCCCCCCCCCCCCCC	MAST2	ENSG00000086015.23	transcript	ENST00000361297.7	protein_coding	4/28		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAST2_chr1_45798612_46041122	45888663	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02129.hp2 NA18988.hp2 NA19090.hp2 HG02129.hp2 NA18988.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0149 a0001c0001t0001g0239 a0001c0001t0001g0141 a0001c0001t0001g0149 a0001c0001t0001g0239	3	288	0.0104	20	c.500 others(37): Show c.500+6285_500+6304dupTTTTTTTTTTTTTTTTTTTT	MAST2	ENSG00000086015.23	transcript	ENST00000361297.7	protein_coding	4/28		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAST2_chr1_45798612_46041122	45900195	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAGATT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02622.hp1 HG02965.hp2 others(1): Show HG02055.hp1 HG02622.hp1 HG02965.hp2 NA21309.hp2	a0002 a0010 a0002 a0010	a0002c0007 a0010c0013 a0002c0007 a0010c0013	a0002c0007t0001 a0010c0013t0001 a0002c0007t0001 a0010c0013t0001	a0002c0007t0001g0073 a0002c0007t0001g0129 a0002c0007t0001g0132 others(1): Show a0002c0007t0001g0073 a0002c0007t0001g0129 a0002c0007t0001g0132 a0010c0013t0001g0143	4	288	0.0139	20	c.500 others(39): Show c.500+17800_500+17801insAAAAAAAAAAAAAAAAGATT	MAST2	ENSG00000086015.23	transcript	ENST00000361297.7	protein_coding	4/28			chr1	TogoVar
MAST3_chr19_18092778_18156687	18100128	C C	CTCTTTTT others(13): Show CTCTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0023 a0003c0004t0023	a0003c0004t0023g0015 a0003c0004t0023g0015	1	296	0.0034	20	c.39+ others(35): Show c.39+2298_39+2299insCTTTTTTTTTTTTTTTTTTT	MAST3	ENSG00000099308.13	transcript	ENST00000687212.1	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr19	TogoVar
MAST3_chr19_18092778_18156687	18116090	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02897.hp2 HG03139.hp1 others(4): Show HG01884.hp2 HG02897.hp2 HG03139.hp1 HG03516.hp2 HG03579.hp2 NA18906.hp2 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0146 a0001c0002t0004g0147 a0001c0002t0004g0238 others(4): Show a0001c0002t0004g0146 a0001c0002t0004g0147 a0001c0002t0004g0238 a0001c0002t0004g0241 a0001c0002t0004g0254 a0001c0002t0004g0256 a0001c0002t0004g0257	7	296	0.0237	20	c.161 others(37): Show c.161+5351_161+5370dupTTTTTTTTTTTTTTTTTTTT	MAST3	ENSG00000099308.13	transcript	ENST00000687212.1	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr19	TogoVar
MAST4_chr5_66591393_67174593	66639278	T T	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0080 a0001c0002t0001g0080	1	108	0.0093	20	c.363 others(39): Show c.363+42276_363+42295dupGTGTGTGTGTGTGTGTGTGT	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAST4_chr5_66591393_67174593	66837023	C C	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02027.hp1 HG02486.hp2 others(2): Show HG01255.hp1 HG02027.hp1 HG02486.hp2 HG02615.hp2 HG03195.hp1	a0001 a0004 a0008 others(1): Show a0001 a0004 a0008 a0011	a0001c0003 a0001c0022 a0004c0007 others(2): Show a0001c0003 a0001c0022 a0004c0007 a0008c0010 a0011c0028	a0001c0003t0029 a0001c0022t0008 a0004c0007t0003 others(2): Show a0001c0003t0029 a0001c0022t0008 a0004c0007t0003 a0008c0010t0013 a0011c0028t0003	a0001c0003t0029g0045 a0001c0022t0008g0092 a0004c0007t0003g0062 others(2): Show a0001c0003t0029g0045 a0001c0022t0008g0092 a0004c0007t0003g0062 a0008c0010t0013g0061 a0011c0028t0003g0033	5	108	0.0463	20	c.642 others(39): Show c.642+48229_642+48230insGTGTGTGTGTGTGTGTGTGT	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	3/28			chr5	TogoVar
MAST4_chr5_66591393_67174593	67049023	G G	GTATATAT others(13): Show GTATATATATATACACGTATA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01255.hp2 HG01257.hp1 HG00741.hp2 HG01255.hp2 HG01257.hp1	a0001 a0014 a0001 a0014	a0001c0001 a0014c0026 a0001c0001 a0014c0026	a0001c0001t0011 a0001c0001t0014 a0014c0026t0001 a0001c0001t0011 a0001c0001t0014 a0014c0026t0001	a0001c0001t0011g0103 a0001c0001t0014g0035 a0014c0026t0001g0104 a0001c0001t0011g0103 a0001c0001t0014g0035 a0014c0026t0001g0104	3	108	0.0278	20	c.675 others(37): Show c.675-5369_675-5368insCACGTATATATATATATATA	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	4/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAST4_chr5_66591393_67174593	67057610	G G	GAAAGAAA others(13): Show GAAAGAAAAGAAAAGAAAAGA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG03834.hp1 HG01168.hp1 HG03834.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0004 a0005c0006t0011 a0005c0006t0004 a0005c0006t0011	a0005c0006t0004g0048 a0005c0006t0011g0091 a0005c0006t0004g0048 a0005c0006t0011g0091	2	108	0.0185	20	c.763 others(37): Show c.763+3120_763+3139dupAAGAAAAGAAAAGAAAAGAA	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	5/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAST4_chr5_66591393_67174593	67069287	G G	GATATATA others(13): Show GATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02280.hp2 HG02451.hp1 others(4): Show HG02055.hp2 HG02280.hp2 HG02451.hp1 HG02615.hp1 HG02622.hp2 HG02922.hp1 HG03540.hp2	a0001 a0004 a0006 others(1): Show a0001 a0004 a0006 a0007	a0001c0002 a0001c0021 a0001c0036 others(3): Show a0001c0002 a0001c0021 a0001c0036 a0004c0015 a0006c0012 a0007c0014	a0001c0002t0003 a0001c0021t0001 a0001c0036t0012 others(3): Show a0001c0002t0003 a0001c0021t0001 a0001c0036t0012 a0004c0015t0004 a0006c0012t0015 a0007c0014t0007	a0001c0002t0003g0039 a0001c0021t0001g0096 a0001c0036t0012g0015 others(4): Show a0001c0002t0003g0039 a0001c0021t0001g0096 a0001c0036t0012g0015 a0004c0015t0004g0065 a0006c0012t0015g0085 a0007c0014t0007g0008 a0007c0014t0007g0012	7	108	0.0648	20	c.763 others(39): Show c.763+14801_763+14820dupTATATATATATATATATATA	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	5/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAST4_chr5_66591393_67174593	67078748	T T	TTATATTT others(13): Show TTATATTTATCTAAATATATA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03195.hp1 HG02922.hp2 HG03195.hp1	a0001 a0009 a0001 a0009	a0001c0003 a0009c0032 a0001c0003 a0009c0032	a0001c0003t0029 a0009c0032t0006 a0001c0003t0029 a0009c0032t0006	a0001c0003t0029g0045 a0009c0032t0006g0107 a0001c0003t0029g0045 a0009c0032t0006g0107	2	108	0.0185	20	c.764 others(39): Show c.764-11411_764-11410insATTTATCTAAATATATATAT	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	5/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
MATCAP2_chr7_36319152_36372240	36337098	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01433.hp1 HG00423.hp2 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0332 a0001c0001t0001g0117 a0001c0001t0001g0332	2	388	0.0052	20	c.715 others(35): Show c.715-821_715-802dupTTTTTTTTTTTTTTTTTTTT	MATCAP2	ENSG00000164542.13	transcript	ENST00000440378.6	protein_coding	2/6			chr7	TogoVar
MATK_chr19_3772973_3791381	3788097	T T	TTAATATT others(13): Show TTAATATTATATTATATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0076 a0003c0007t0001g0076	1	434	0.0023	20	c.-20 others(31): Show c.-2081_-2080insTATAATATAATATAATATTA	MATK	ENSG00000007264.15	transcript	ENST00000310132.11	protein_coding		1717		chr19	TogoVar
MATN2_chr8_97864064_98041724	97889459	C C	CTATATAT others(13): Show CTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01256.hp1 HG01256.hp2 others(7): Show HG00621.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG02602.hp2 NA18747.hp2 NA18941.hp1 NA18968.hp1 NA18968.hp2 NA19057.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0007 a0025 a0028	a0001c0001 a0001c0002 a0001c0050 others(6): Show a0001c0001 a0001c0002 a0001c0050 a0002c0006 a0003c0003 a0005c0013 a0007c0040 a0025c0044 a0028c0082	a0001c0001t0002 a0001c0002t0001 a0001c0050t0001 others(6): Show a0001c0001t0002 a0001c0002t0001 a0001c0050t0001 a0002c0006t0001 a0003c0003t0002 a0005c0013t0002 a0007c0040t0003 a0025c0044t0003 a0028c0082t0003	a0001c0001t0002g0072 a0001c0002t0001g0070 a0001c0050t0001g0086 others(7): Show a0001c0001t0002g0072 a0001c0002t0001g0070 a0001c0050t0001g0086 a0002c0006t0001g0054 a0002c0006t0001g0055 a0003c0003t0002g0184 a0005c0013t0002g0053 a0007c0040t0003g0174 a0025c0044t0003g0071 a0028c0082t0003g0161	10	318	0.0315	20	c.142 others(37): Show c.142+1228_142+1247dupTATATATATATATATATATA	MATN2	ENSG00000132561.14	transcript	ENST00000254898.7	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
MATN2_chr8_97864064_98041724	97988189	T T	TATATATA others(13): Show TATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0015 a0002c0006t0015	a0002c0006t0015g0005 a0002c0006t0015g0005	1	318	0.0031	20	c.108 others(39): Show c.1082-6290_1082-6289insTATATATATATATACACACA	MATN2	ENSG00000132561.14	transcript	ENST00000254898.7	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
MATN2_chr8_97864064_98041724	97992745	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp2 HG02559.hp1 HG02559.hp2	a0001 a0002 a0001 a0002	a0001c0063 a0002c0078 a0001c0063 a0002c0078	a0001c0063t0001 a0002c0078t0013 a0001c0063t0001 a0002c0078t0013	a0001c0063t0001g0238 a0002c0078t0013g0101 a0001c0063t0001g0238 a0002c0078t0013g0101	2	318	0.0063	20	c.108 others(39): Show c.1082-1729_1082-1710dupAAAAAAAAAAAAAAAAAAAA	MATN2	ENSG00000132561.14	transcript	ENST00000254898.7	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
MATN2_chr8_97864064_98041724	98037382	C C	CTATATAT others(13): Show CTATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG03516.hp1 NA18906.hp2 HG02809.hp1 HG03516.hp1 NA18906.hp2	a0001 a0001	a0001c0016 a0001c0017 a0001c0059 a0001c0016 a0001c0017 a0001c0059	a0001c0016t0005 a0001c0017t0005 a0001c0059t0012 a0001c0016t0005 a0001c0017t0005 a0001c0059t0012	a0001c0016t0005g0108 a0001c0017t0005g0116 a0001c0059t0012g0058 a0001c0016t0005g0108 a0001c0017t0005g0116 a0001c0059t0012g0058	3	318	0.0094	20	c.16 others(31): Show c.1670_*1671insTATATATATATATATATATA	MATN2	ENSG00000132561.14	transcript	ENST00000254898.7	protein_coding		659		chr8	TogoVar
MATN2_chr8_97864064_98041724	98037392	G G	GTATATAT others(13): Show GTATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG01169.hp1 HG02717.hp1 others(4): Show HG00323.hp1 HG01169.hp1 HG02717.hp1 HG04184.hp1 NA18945.hp2 NA18954.hp2 NA19011.hp1	a0001 a0002 a0019 a0001 a0002 a0019	a0001c0002 a0001c0030 a0002c0006 others(2): Show a0001c0002 a0001c0030 a0002c0006 a0002c0011 a0019c0048	a0001c0002t0001 a0001c0030t0001 a0002c0006t0001 others(2): Show a0001c0002t0001 a0001c0030t0001 a0002c0006t0001 a0002c0011t0001 a0019c0048t0001	a0001c0002t0001g0082 a0001c0002t0001g0106 a0001c0002t0001g0208 others(4): Show a0001c0002t0001g0082 a0001c0002t0001g0106 a0001c0002t0001g0208 a0001c0030t0001g0242 a0002c0006t0001g0169 a0002c0011t0001g0181 a0019c0048t0001g0114	7	318	0.0220	20	c.16 others(31): Show c.1680_*1681insTATATATATATATATATATA	MATN2	ENSG00000132561.14	transcript	ENST00000254898.7	protein_coding		669		chr8	TogoVar
MATN3_chr2_19987052_20017668	20002191	C C	CACACACA others(13): Show CACACACACACACACACACAG	intron_variant intron_variant	MODIFIER	HG03654.hp2 NA18612.hp1 NA18975.hp1 others(2): Show HG03654.hp2 NA18612.hp1 NA18975.hp1 NA19006.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0180 others(2): Show a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0180 a0001c0001t0001g0191 a0001c0001t0001g0200	5	432	0.0116	20	c.917 others(35): Show c.917-112_917-111insCTGTGTGTGTGTGTGTGTGT	MATN3	ENSG00000132031.13	transcript	ENST00000407540.8	protein_coding	3/7			chr2	TogoVar
MATN3_chr2_19987052_20017668	20010067	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02976.hp2 HG04115.hp1 HG02895.hp2 HG02976.hp2 HG04115.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0001 a0001c0002t0002 a0001c0003t0001	a0001c0002t0002g0052 a0001c0003t0001g0248 a0001c0002t0002g0052 a0001c0003t0001g0248	3	432	0.0069	20	c.223 others(37): Show c.223+2322_223+2341dupTTTTTTTTTTTTTTTTTTTT	MATN3	ENSG00000132031.13	transcript	ENST00000407540.8	protein_coding	1/7			chr2	TogoVar
MATN4_chr20_45288450_45313299	45305805	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01106.hp2 HG01361.hp2 others(10): Show HG00642.hp2 HG01106.hp2 HG01361.hp2 HG01433.hp1 HG01891.hp2 HG02602.hp2 HG03041.hp2 HG03195.hp2 HG04184.hp2 NA18951.hp2 NA18953.hp2 NA18971.hp2 NA18983.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0003 a0003c0002 others(1): Show a0001c0001 a0002c0003 a0003c0002 a0004c0005	a0001c0001t0001 a0002c0003t0001 a0003c0002t0001 others(1): Show a0001c0001t0001 a0002c0003t0001 a0003c0002t0001 a0004c0005t0002	a0001c0001t0001g0012 a0001c0001t0001g0146 a0001c0001t0001g0147 others(7): Show a0001c0001t0001g0012 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0178 a0002c0003t0001g0233 a0002c0003t0001g0234 a0003c0002t0001g0235 a0004c0005t0002g0270	13	422	0.0308	20	c.-34 others(35): Show c.-34-190_-34-189insAAAAAAAAAAAAAAAAAAAA	MATN4	ENSG00000124159.17	transcript	ENST00000372756.6	protein_coding	1/9			chr20	TogoVar
MAVS_chr20_3841834_3881118	3851990	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03098.hp2 HG03579.hp1 others(1): Show HG02559.hp2 HG03098.hp2 HG03579.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0010 a0001c0001t0107 a0001c0001t0007 a0001c0001t0010 a0001c0001t0107	a0001c0001t0007g0270 a0001c0001t0010g0303 a0001c0001t0010g0304 others(1): Show a0001c0001t0007g0270 a0001c0001t0010g0303 a0001c0001t0010g0304 a0001c0001t0107g0184	4	420	0.0095	20	c.-67 others(37): Show c.-67-2551_-67-2550insTTTTTTTTTTTTTTTTTTTT	MAVS	ENSG00000088888.18	transcript	ENST00000428216.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
MBD2_chr18_54146606_54229669	54168572	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02451.hp1 HG03471.hp1 others(2): Show HG02132.hp1 HG02451.hp1 HG03471.hp1 NA18983.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0006 a0002c0002t0017 a0002c0002t0036 others(2): Show a0001c0001t0006 a0002c0002t0017 a0002c0002t0036 a0002c0002t0038 a0002c0002t0049	a0001c0001t0006g0037 a0002c0002t0017g0261 a0002c0002t0036g0262 others(2): Show a0001c0001t0006g0037 a0002c0002t0017g0261 a0002c0002t0036g0262 a0002c0002t0038g0271 a0002c0002t0049g0269	5	300	0.0167	20	c.841 others(37): Show c.841-2426_841-2407dupATATATATATATATATATAT	MBD2	ENSG00000134046.12	transcript	ENST00000256429.8	protein_coding	3/6			chr18	TogoVar
MBD2_chr18_54146606_54229669	54168612	T T	TATATATA others(13): Show TATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0122 a0001c0001t0010g0122	1	300	0.0033	20	c.841 others(37): Show c.841-2447_841-2446insGTATATATATATATATATAT	MBD2	ENSG00000134046.12	transcript	ENST00000256429.8	protein_coding	3/6			chr18	TogoVar
MBD3L3_chr19_7051207_7063676	7060471	T T	TTTCCTTC others(13): Show TTTCCTTCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02486.hp1 HG02523.hp1 others(4): Show HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02976.hp2 NA18945.hp2 NA18984.hp2 NA19066.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0041 a0001c0001t0002g0003 a0002c0002t0001g0006 others(2): Show a0001c0001t0001g0041 a0001c0001t0002g0003 a0002c0002t0001g0006 a0002c0002t0001g0011 a0002c0002t0002g0019	7	288	0.0243	20	c.-18 others(31): Show c.-1886_-1867dupGGAAGGAAGGAAGGAAGGAA	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		1796		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7062382	T T	TTATAATA others(13): Show TTATAATATATAATATTATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0002 a0003c0003t0001g0002	1	288	0.0035	20	c.-37 others(31): Show c.-3778_-3777insTTATAATATTATATATTATA	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3707		chr19	TogoVar
MBD3L4_chr19_7032749_7045179	7042010	T T	TTTCCTTC others(13): Show TTTCCTTCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01361.hp1 HG02738.hp2 others(2): Show HG01069.hp2 HG01361.hp1 HG02738.hp2 HG03834.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	5	262	0.0191	20	c.-18 others(31): Show c.-1867_-1866insGGAAGGAAGGAAGGAAGGAA	MBD3L4	ENSG00000205718.10	transcript	ENST00000381394.9	protein_coding		1832		chr19	TogoVar
MBD3L5_chr19_7025578_7038011	7026778	T T	TGGGATTA others(13): Show TGGGATTACAAGCTTGAGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0002 a0002	a0002c0019 a0002c0019	a0002c0019t0001 a0002c0019t0001	a0002c0019t0001g0037 a0002c0019t0001g0037	1	249	0.0040	20	c.-38 others(31): Show c.-3834_-3833insGGGATTACAAGCTTGAGCCA	MBD3L5	ENSG00000237247.6	transcript	ENST00000329753.5	protein_coding		3799		chr19	TogoVar
MBD3L5_chr19_7025578_7038011	7028708	C C	CAGGAAGG others(13): Show CAGGAAGGAAGGAAGGAAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp1 HG01978.hp1 NA18522.hp2 HG01358.hp1 HG01978.hp1 NA18522.hp2	a0004 a0013 a0004 a0013	a0004c0004 a0013c0022 a0004c0004 a0013c0022	a0004c0004t0001 a0013c0022t0002 a0004c0004t0001 a0013c0022t0002	a0004c0004t0001g0005 a0013c0022t0002g0009 a0004c0004t0001g0005 a0013c0022t0002g0009	3	249	0.0121	20	c.-19 others(31): Show c.-1904_-1903insAGGAAGGAAGGAAGGAAGGA	MBD3L5	ENSG00000237247.6	transcript	ENST00000329753.5	protein_coding		1869		chr19	TogoVar
MBD5_chr2_148016091_148521971	148043452	C C	CAAATAAA others(13): Show CAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 NA18946.hp2 NA18977.hp1 HG01123.hp1 NA18946.hp2 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0028 a0001c0001t0001g0064 a0001c0001t0004g0065 a0001c0001t0001g0028 a0001c0001t0001g0064 a0001c0001t0004g0065	3	188	0.0160	20	c.-92 others(41): Show c.-925+21784_-925+21803dupTAAATAAATAAATAAATAAA	MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
MBD5_chr2_148016091_148521971	148043485	A A	AAATAAAT others(13): Show AAATAAATAAATAAATAAATG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0009 a0001c0001t0018g0009	1	188	0.0053	20	c.-92 others(41): Show c.-925+21803_-925+21804insTAAATAAATAAATAAATGAA	MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
MBD5_chr2_148016091_148521971	148180343	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01884.hp2 HG02109.hp2 others(5): Show HG00280.hp2 HG01884.hp2 HG02109.hp2 HG02615.hp1 HG03139.hp1 HG03471.hp1 HG03516.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0014	a0001c0001t0001g0041 a0001c0001t0001g0136 a0001c0001t0002g0135 others(5): Show a0001c0001t0001g0041 a0001c0001t0001g0136 a0001c0001t0002g0135 a0001c0001t0004g0038 a0001c0001t0005g0072 a0001c0001t0007g0010 a0001c0001t0008g0015 a0001c0001t0014g0018	8	188	0.0426	20	c.-83 others(39): Show c.-831+1568_-831+1569insATATATATATATATATATAT	MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
MBD5_chr2_148016091_148521971	148239686	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02145.hp2 HG02300.hp1 others(11): Show HG01884.hp2 HG02145.hp2 HG02300.hp1 HG03491.hp2 HG04204.hp1 NA18945.hp1 NA18946.hp2 NA18959.hp1 NA18995.hp2 NA19006.hp1 NA19010.hp2 NA19065.hp1 NA19079.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0016 a0001c0002t0015 a0001c0004t0001	a0001c0001t0001g0041 a0001c0001t0001g0053 a0001c0001t0001g0058 others(11): Show a0001c0001t0001g0041 a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0069 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0136 a0001c0001t0002g0042 a0001c0001t0002g0185 a0001c0001t0004g0046 a0001c0001t0004g0065 a0001c0001t0016g0139 a0001c0002t0015g0056 a0001c0004t0001g0144	14	188	0.0745	20	c.-68 others(39): Show c.-680+6305_-680+6324dupCACACACACACACACACACA	MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
MBD5_chr2_148016091_148521971	148288399	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02622.hp1 HG02738.hp1 others(6): Show HG00408.hp2 HG02622.hp1 HG02738.hp1 HG03139.hp1 HG03209.hp2 HG04204.hp2 NA18959.hp2 NA18985.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0012 a0001c0001t0027 a0001c0001t0031	a0001c0001t0001g0077 a0001c0001t0001g0136 a0001c0001t0002g0087 others(6): Show a0001c0001t0001g0077 a0001c0001t0001g0136 a0001c0001t0002g0087 a0001c0001t0004g0083 a0001c0001t0005g0145 a0001c0001t0007g0010 a0001c0001t0012g0121 a0001c0001t0027g0076 a0001c0001t0031g0048	9	188	0.0479	20	c.-67 others(41): Show c.-679-53800_-679-53799insAAAAAAAAAAAAAAAAAAAA	MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
MBD5_chr2_148016091_148521971	148288410	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA19240.hp1 HG02965.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0014 a0001c0001t0006g0013 a0001c0001t0002g0014 a0001c0001t0006g0013	2	188	0.0106	20	c.-67 others(41): Show c.-679-53800_-679-53799insAAAAAAAAAAAAAAAGAAAA	MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
MBD5_chr2_148016091_148521971	148294501	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp2 HG03453.hp1 others(1): Show HG02145.hp1 HG02145.hp2 HG03453.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0178 a0001c0001t0002g0107 a0001c0001t0002g0185 others(1): Show a0001c0001t0001g0178 a0001c0001t0002g0107 a0001c0001t0002g0185 a0001c0001t0005g0157	4	188	0.0213	20	c.-67 others(41): Show c.-679-47712_-679-47693dupTTTTTTTTTTTTTTTTTTTT	MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
MBD5_chr2_148016091_148521971	148296864	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	188	0.0053	20	c.-67 others(41): Show c.-679-45349_-679-45330dupTTTTTTTTTTTTTTTTTTTT	MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
MBD5_chr2_148016091_148521971	148330088	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01123.hp1 HG01169.hp2 others(20): Show HG01106.hp1 HG01123.hp1 HG01169.hp2 HG01175.hp2 HG01261.hp2 HG01358.hp1 HG01978.hp2 HG01981.hp1 HG02129.hp1 HG02602.hp1 HG03017.hp1 HG04115.hp1 HG04115.hp2 HG04204.hp2 NA18948.hp2 NA18962.hp1 NA18984.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19010.hp1 NA19087.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0024	a0001c0001t0001g0020 a0001c0001t0001g0028 a0001c0001t0001g0036 others(20): Show a0001c0001t0001g0020 a0001c0001t0001g0028 a0001c0001t0001g0036 a0001c0001t0001g0066 a0001c0001t0001g0102 a0001c0001t0001g0117 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0136 a0001c0001t0001g0147 a0001c0001t0002g0006 a0001c0001t0002g0035 a0001c0001t0002g0054 a0001c0001t0002g0068 a0001c0001t0002g0095 a0001c0001t0002g0106 a0001c0001t0002g0120 a0001c0001t0003g0007 a0001c0001t0004g0052 a0001c0001t0004g0183 a0001c0001t0005g0145 a0001c0001t0009g0027 a0001c0001t0024g0105	23	188	0.1223	20	c.-67 others(41): Show c.-679-12115_-679-12096dupACACACACACACACACACAC	MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
MBD5_chr2_148016091_148521971	148330115	A A	ACACACAC others(13): Show ACACACACACACACACACACT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp1 others(8): Show HG00140.hp2 HG00280.hp1 HG00323.hp1 HG01358.hp2 HG02129.hp2 HG03540.hp2 HG03704.hp2 NA18977.hp1 NA18994.hp2 NA19007.hp2 NA19065.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0007 a0005c0006 a0001c0001 a0001c0007 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0007t0001 a0005c0006t0001	a0001c0001t0001g0064 a0001c0001t0001g0098 a0001c0001t0001g0133 others(8): Show a0001c0001t0001g0064 a0001c0001t0001g0098 a0001c0001t0001g0133 a0001c0001t0001g0176 a0001c0001t0002g0094 a0001c0001t0003g0001 a0001c0001t0004g0143 a0001c0001t0005g0132 a0001c0001t0006g0177 a0001c0007t0001g0045 a0005c0006t0001g0134	11	188	0.0585	20	c.-67 others(41): Show c.-679-12096_-679-12095insACACACACACACACACTCAC	MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
MBD5_chr2_148016091_148521971	148446602	C C	CTATGTGT others(13): Show CTATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0101 a0001c0001t0002g0101	1	188	0.0053	20	c.-55 others(41): Show c.-556-11600_-556-11599insATGTGTGTGTGTGTGTGTGT	MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
MBD5_chr2_148016091_148521971	148447178	G G	GGAAAGAA others(13): Show GGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03486.hp2 HG02615.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0008 a0001c0001t0006 a0001c0001t0008	a0001c0001t0006g0160 a0001c0001t0008g0015 a0001c0001t0006g0160 a0001c0001t0008g0015	2	188	0.0106	20	c.-55 others(41): Show c.-556-10987_-556-10968dupAAAGAAAGAAAGAAAGAAAG	MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
MBLAC2_chr5_90453209_90479771	90470785	C C	CACACACA others(13): Show CACACACACACACACACACAA	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	378	0.0027	20	c.454 others(37): Show c.454+3053_454+3054insTTGTGTGTGTGTGTGTGTGT	MBLAC2	ENSG00000176055.10	transcript	ENST00000316610.7	protein_coding	1/1			chr5	TogoVar
MBLAC2_chr5_90453209_90479771	90478569	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG02280.hp2 HG01109.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	2	378	0.0053	20	c.-42 others(31): Show c.-4278_-4277insAAAAAAAAAAAAAAAAAAAA	MBLAC2	ENSG00000176055.10	transcript	ENST00000316610.7	protein_coding		3799		chr5	TogoVar
MBNL1_chr3_152263929_152470780	152342553	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	338	0.0030	20	c.174 others(39): Show c.174+42201_174+42220dupACACACACACACACACACAC	MBNL1	ENSG00000152601.18	transcript	ENST00000324210.10	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
MBNL1_chr3_152263929_152470780	152356856	A A	AGTGTGTG others(13): Show AGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03688.hp1 HG02055.hp2 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0331 a0001c0001t0002g0225 a0001c0001t0001g0331 a0001c0001t0002g0225	2	338	0.0059	20	c.174 others(39): Show c.174+56494_174+56513dupGTGTGTGTGTGTGTGTGTGT	MBNL1	ENSG00000152601.18	transcript	ENST00000324210.10	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
MBNL1_chr3_152263929_152470780	152443485	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp1 HG02132.hp1 others(16): Show HG01516.hp2 HG01517.hp1 HG02132.hp1 HG02486.hp2 HG02809.hp1 HG03195.hp2 HG03453.hp1 HG03471.hp1 HG03540.hp2 HG03688.hp2 HG03710.hp2 HG04184.hp2 NA18951.hp1 NA18964.hp2 NA18993.hp2 NA19011.hp1 NA19043.hp1 NA19079.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0017	a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0126 others(16): Show a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0155 a0001c0001t0001g0207 a0001c0001t0001g0240 a0001c0001t0002g0030 a0001c0001t0002g0106 a0001c0001t0002g0185 a0001c0001t0002g0190 a0001c0001t0002g0319 a0001c0001t0002g0323 a0001c0001t0003g0102 a0001c0001t0003g0152 a0001c0001t0017g0147	19	338	0.0562	20	c.550 others(37): Show c.550-1793_550-1774dupCACACACACACACACACACA	MBNL1	ENSG00000152601.18	transcript	ENST00000324210.10	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
MBNL2_chr13_97217333_97399120	97291900	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02486.hp2 HG02976.hp1 others(2): Show HG01175.hp2 HG02486.hp2 HG02976.hp1 HG03225.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0108 a0001c0001t0001g0115 a0001c0001t0002g0154 others(2): Show a0001c0001t0001g0108 a0001c0001t0001g0115 a0001c0001t0002g0154 a0001c0001t0004g0172 a0001c0001t0004g0233	5	254	0.0197	20	c.174 others(39): Show c.174+15508_174+15509insAAAAAAAAAAAAAAAAAAAA	MBNL2	ENSG00000139793.21	transcript	ENST00000679496.1	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
MBNL2_chr13_97217333_97399120	97368412	T T	TTAAAATA others(13): Show TTAAAATAAAATAAAATAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01981.hp1 HG02055.hp2 others(8): Show HG01109.hp1 HG01981.hp1 HG02055.hp2 HG02258.hp1 HG02647.hp2 HG02723.hp1 HG02818.hp2 HG02886.hp2 HG03471.hp2 HG03516.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0013	a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 others(8): Show a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0002g0131 a0001c0001t0008g0005 a0001c0001t0013g0250	11	254	0.0433	20	c.104 others(39): Show c.1048+3249_1048+3268dupAAATAAAATAAAATAAAATA	MBNL2	ENSG00000139793.21	transcript	ENST00000679496.1	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
MBNL2_chr13_97217333_97399120	97388314	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0212 a0001c0002t0006g0212	1	254	0.0039	20	c.104 others(39): Show c.1049-3005_1049-2986dupATATATATATATATATATAT	MBNL2	ENSG00000139793.21	transcript	ENST00000679496.1	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr13	TogoVar