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
LRRC27_chr10_132327193_132386508	132364644	C C	CCACACTT others(89): Show CCACACTTACATCTACCTCCACGCCCACACTCACACCCACCCACACTCAC ACCCACCCACACTCACACCCACCCACACTTACACCCACCCACACTTA	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA20805.hp2 HG02280.hp2 NA20805.hp2	a0001 a0001	a0001c0003 a0001c0013 a0001c0003 a0001c0013	a0001c0003t0007 a0001c0013t0007 a0001c0003t0007 a0001c0013t0007	a0001c0003t0007g0102 a0001c0013t0007g0091 a0001c0003t0007g0102 a0001c0013t0007g0091	2	280	0.0071	96	c.129 others(113): Show c.1290-777_1290-776insACTTACATCTACCTCCACGCCCACACTC ACACCCACCCACACTCACACCCACCCACACTCACACCCACCCACACTTAC ACCCACCCACACTTACAC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC36_chr16_67321815_67390204	67341006	T T	TACTATAG others(89): Show TACTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTACATA TTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG02896.hp2 others(3): Show HG01070.hp1 HG01071.hp1 HG02896.hp2 HG02970.hp1 HG03579.hp2 HG03927.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0003c0003t0001 a0002c0002t0002 a0003c0003t0001	a0002c0002t0002g0182 a0003c0003t0001g0016 a0003c0003t0001g0027 others(3): Show a0002c0002t0002g0182 a0003c0003t0001g0016 a0003c0003t0001g0027 a0003c0003t0001g0029 a0003c0003t0001g0034 a0003c0003t0001g0035	6	165	0.0364	96	c.71- others(109): Show c.71-951_71-950insACTATAGAATATGTACTCTACATATTCTATAG AATATGTACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAG AATATGTACTCTAC	LRRC36	ENSG00000159708.18	transcript	ENST00000329956.11	protein_coding	1/13			chr16	TogoVar
LRRC4C_chr11_40109209_41464652	40696750	A A	ATATATAT others(89): Show ATATATATATATATATATATATATATATATATATCTGAGTATATATATAT ATATATATATATCTGAGTATATATATATATATATATATATATCTGAG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	48	0.0208	96	c.-40 others(117): Show c.-406-48473_-406-48472insCTCAGATATATATATATATATATA TATATACTCAGATATATATATATATATATATATACTCAGATATATATATA TATATATATATATATATATATA	LRRC4C	ENSG00000148948.8	transcript	ENST00000528697.6	protein_coding	2/6			chr11	TogoVar
LRRC74A_chr14_76821408_76875304	76821718	G G	GGCCAGCC others(89): Show GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCC GGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGTCAGCTCCCCGCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG00544.hp2 others(133): Show HG00408.hp2 HG00438.hp2 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01123.hp2 HG01168.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01891.hp2 HG01934.hp2 HG01952.hp1 HG01981.hp1 HG01993.hp2 HG02027.hp1 HG02040.hp2 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp2 HG02818.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp2 HG03453.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18612.hp2 NA18906.hp1 NA18940.hp1 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18955.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18968.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18974.hp2 NA18975.hp2 NA18981.hp1 NA18986.hp1 NA18986.hp2 NA18990.hp2 NA18998.hp1 NA19000.hp2 NA19003.hp2 NA19005.hp1 NA19011.hp1 NA19043.hp1 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19082.hp2 NA19084.hp2 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA21309.hp2	a0001 a0002 a0005 others(4): Show a0001 a0002 a0005 a0006 a0007 a0008 a0011	a0001c0001 a0001c0004 a0001c0005 others(12): Show a0001c0001 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0011 a0002c0002 a0002c0010 a0002c0019 a0005c0009 a0006c0012 a0006c0015 a0007c0026 a0008c0017 a0011c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0004t0001 a0001c0005t0001 a0001c0005t0004 a0001c0007t0001 a0001c0008t0001 a0001c0011t0001 a0001c0011t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0012 a0002c0002t0014 a0002c0010t0001 a0002c0019t0001 a0005c0009t0001 a0005c0009t0002 a0006c0012t0001 a0006c0012t0004 a0006c0015t0004 a0007c0026t0004 a0008c0017t0001 a0011c0016t0001	a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0012 others(127): Show a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0207 a0001c0001t0001g0211 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0234 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0293 a0001c0001t0001g0302 a0001c0001t0001g0306 a0001c0001t0001g0312 a0001c0001t0001g0314 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0325 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0217 a0001c0001t0002g0219 a0001c0001t0002g0221 a0001c0001t0002g0224 a0001c0001t0002g0229 a0001c0001t0002g0272 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0280 a0001c0001t0002g0297 a0001c0001t0002g0303 a0001c0001t0002g0318 a0001c0001t0002g0324 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0004g0232 a0001c0001t0004g0233 a0001c0001t0004g0294 a0001c0001t0004g0295 a0001c0001t0004g0301 a0001c0001t0004g0321 a0001c0004t0001g0208 a0001c0004t0001g0296 a0001c0005t0001g0289 a0001c0005t0004g0322 a0001c0007t0001g0278 a0001c0008t0001g0008 a0001c0008t0001g0237 a0001c0008t0001g0241 a0001c0008t0001g0247 a0001c0008t0001g0248 a0001c0008t0001g0250 a0001c0011t0001g0230 a0001c0011t0001g0394 a0001c0011t0001g0395 a0001c0011t0004g0323 a0002c0002t0001g0010 a0002c0002t0001g0014 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0210 a0002c0002t0001g0225 a0002c0002t0001g0227 a0002c0002t0001g0251 a0002c0002t0001g0258 a0002c0002t0001g0260 a0002c0002t0001g0261 a0002c0002t0001g0286 a0002c0002t0001g0287 a0002c0002t0001g0288 a0002c0002t0001g0290 a0002c0002t0001g0291 a0002c0002t0001g0292 a0002c0002t0001g0298 a0002c0002t0001g0299 a0002c0002t0001g0304 a0002c0002t0001g0319 a0002c0002t0001g0320 a0002c0002t0002g0236 a0002c0002t0002g0255 a0002c0002t0012g0231 a0002c0002t0014g0313 a0002c0010t0001g0009 a0002c0010t0001g0245 a0002c0010t0001g0246 a0002c0019t0001g0228 a0005c0009t0001g0300 a0005c0009t0001g0307 a0005c0009t0001g0308 a0005c0009t0001g0309 a0005c0009t0001g0310 a0005c0009t0001g0315 a0005c0009t0002g0311 a0006c0012t0001g0242 a0006c0012t0004g0243 a0006c0012t0004g0244 a0006c0015t0004g0240 a0007c0026t0004g0209 a0008c0017t0001g0262 a0011c0016t0001g0249	136	403	0.3375	96	c.-49 others(107): Show c.-4980_-4979insGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG GTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGTCA GCTCCCCGCCCA	LRRC74A	ENSG00000100565.16	transcript	ENST00000689127.1	protein_coding		4689		chr14	TogoVar
LRRK1_chr15_100914357_101083257	100941428	C C	CTGTGTCT others(89): Show CTGTGTCTCTGTGTGTGTCTTTGTGTGTGTGTGTGCCTGTATCTGTGTGC GTCTGTGTCTCTGTGTGTGTCTGTGTGTGTGTGTCTGTGTCTCTGTG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02965.hp2 NA18990.hp2 others(3): Show HG02280.hp2 HG02965.hp2 NA18990.hp2 NA19068.hp1 NA19068.hp2 NA19077.hp2	a0001 a0005 a0009 others(1): Show a0001 a0005 a0009 a0029	a0001c0014 a0001c0066 a0001c0070 others(3): Show a0001c0014 a0001c0066 a0001c0070 a0005c0060 a0009c0024 a0029c0041	a0001c0014t0011 a0001c0066t0229 a0001c0070t0152 others(3): Show a0001c0014t0011 a0001c0066t0229 a0001c0070t0152 a0005c0060t0086 a0009c0024t0145 a0029c0041t0021	a0001c0014t0011g0332 a0001c0066t0229g0076 a0001c0070t0152g0073 others(3): Show a0001c0014t0011g0332 a0001c0066t0229g0076 a0001c0070t0152g0073 a0005c0060t0086g0333 a0009c0024t0145g0331 a0029c0041t0021g0328	6	277	0.0217	96	c.97+ others(113): Show c.97+16704_97+16705insCTCTGTGTGTGTCTTTGTGTGTGTGTGT GCCTGTATCTGTGTGCGTCTGTGTCTCTGTGTGTGTCTGTGTGTGTGTGT CTGTGTCTCTGTGTGTGT	LRRK1	ENSG00000154237.13	transcript	ENST00000388948.8	protein_coding	2/33		INFO_REALIGN_3_PRIME	chr15	TogoVar
LRRTM4_chr2_76742685_77527376	76873506	G G	GTGTATAT others(89): Show GTGTATATATATATATATATATATGTATATATATATATATATATATGTAT ATATATATATATATATGTATATATATATATATATGTACATATATATA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	32	0.0313	96	c.155 others(119): Show c.1552-124591_1552-124590insTATATATATGTACATATATATA TATATATACATATATATATATATATATACATATATATATATATATATATA CATATATATATATATATATATACA	LRRTM4	ENSG00000176204.14	transcript	ENST00000409884.6	protein_coding	3/3			chr2	TogoVar
LTBP2_chr14_74493183_74617237	74564115	A A	ATATATTT others(89): Show ATATATTTATATATATTTATATATATATATTTATATATATTTATATATAT ATTTATATATATATTTATATATATTTATATATATTTATATATATATT	intron_variant intron_variant	MODIFIER	HG03490.hp1 NA20905.hp2 HG03490.hp1 NA20905.hp2	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0006 a0007c0012t0016 a0007c0012t0006 a0007c0012t0016	a0007c0012t0006g0022 a0007c0012t0016g0030 a0007c0012t0006g0022 a0007c0012t0016g0030	2	266	0.0075	96	c.831 others(113): Show c.831-8423_831-8422insAATATATATATAAATATATATAAATATA TATAAATATATATATAAATATATATATAAATATATATAAATATATATATA TAAATATATATAAATATA	LTBP2	ENSG00000119681.12	transcript	ENST00000261978.9	protein_coding	3/35			chr14	TogoVar
LUC7L_chr16_183990_234449	186187	G G	GGAGGAAC others(89): Show GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCG ACACGGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0292 a0001c0001t0001g0292	1	291	0.0034	96	c.30 others(107): Show c.3010_*3011insTCCCCCCGTGTCGCTGTTCCCTCCGTGTCGCTGT TCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTG TCGCTGTTCCTC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2802		chr16	TogoVar
LYPD8_chr1_248734415_248760759	248740680	C C	CGCAATTT others(89): Show CGCAATTTGAGTTCAAGGCTGGCTCTAGGACCAGGCATGAAGCAGGGCCA CAATTTGAGTTCAAGGCCGGCTCTAGGACCAGGCATGAAGCAGGGCT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02257.hp1 HG02622.hp2 others(9): Show HG01884.hp1 HG02257.hp1 HG02622.hp2 HG02723.hp1 HG02970.hp1 HG03041.hp2 HG03098.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0004 a0001c0005t0001 a0001c0001t0001 a0001c0001t0004 a0001c0005t0001	a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0126 others(9): Show a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0126 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0201 a0001c0001t0004g0085 a0001c0001t0004g0087 a0001c0005t0001g0169 a0001c0005t0001g0170	12	371	0.0323	96	c.476 others(111): Show c.476-832_476-831insAGCCCTGCTTCATGCCTGGTCCTAGAGCCG GCCTTGAACTCAAATTGTGGCCCTGCTTCATGCCTGGTCCTAGAGCCAGC CTTGAACTCAAATTGC	LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	6/6			chr1	TogoVar
LYPD8_chr1_248734415_248760759	248740681	G G	GCAATTTG others(89): Show GCAATTTGAGTTCAAGGCTGGCTCTAGGACCAGGCATGAAGCAGGGCCGC AATTTGAGTTCAAGGCTGGCTCTAGGACCAGGCATGAAGCAGGGCCA	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0065 a0001c0001t0002g0065	1	308	0.0032	96	c.476 others(111): Show c.476-833_476-832insTGGCCCTGCTTCATGCCTGGTCCTAGAGCC AGCCTTGAACTCAAATTGCGGCCCTGCTTCATGCCTGGTCCTAGAGCCAG CCTTGAACTCAAATTG	LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	6/6			chr1	TogoVar
LYPD8_chr1_248734415_248760759	248746719	C C	CCAGCACC others(89): Show CCAGCACCCACCCAGGGCATCCCCCGCACGGCCAGCACCCACCCAGGGCA TCGCCCGCACGGCCAGCACCCACCCAGGGCATCGCCCGCACGGCCAG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	181	0.0055	96	c.338 others(113): Show c.338-1441_338-1440insCTGGCCGTGCGGGCGATGCCCTGGGTGG GTGCTGGCCGTGCGGGCGATGCCCTGGGTGGGTGCTGGCCGTGCGGGGGA TGCCCTGGGTGGGTGCTG	LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	5/6			chr1	TogoVar
LYPD8_chr1_248734415_248760759	248747338	G G	GCCCGCAC others(89): Show GCCCGCACGGCCAGCACCCACCCAGGGCATCGCCCGCACGGCCAGCAGCA CCCACCCAGGGCATCGCCCGCACGGCCAGCACCCACCCAGGGCATCC	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	194	0.0052	96	c.337 others(111): Show c.337+950_337+951insGGATGCCCTGGGTGGGTGCTGGCCGTGCGG GCGATGCCCTGGGTGGGTGCTGCTGGCCGTGCGGGCGATGCCCTGGGTGG GTGCTGGCCGTGCGGG	LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	5/6			chr1	TogoVar
LYST_chr1_235656041_235871906	235778098	A A	AATATATA others(89): Show AATATATATATATATATATATATATATATATATATATATTTTTGTAGAGA TATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0112 a0002c0005t0001g0112	1	153	0.0065	96	c.521 others(113): Show c.5215-791_5215-790insATATATATATATATATATATATATATAT ATATATATATATATATATATCTCTACAAAAATATATATATATATATATAT ATATATATATATATATAT	LYST	ENSG00000143669.16	transcript	ENST00000389793.7	protein_coding	16/52			chr1	TogoVar
MAD1L1_chr7_1810795_2237945	1929941	C C	CCACACTG others(89): Show CCACACTGCCACGTCCCCTACTGCCACGTCCCACCACCACGTCCACACTG CCATGTCCCCTCGCCCCATCCCCCACTGCCACGTCCCCTCGCCCCGT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0134 a0001c0003t0001g0134	1	248	0.0040	96	c.180 others(115): Show c.1807+6745_1807+6746insACGGGGCGAGGGGACGTGGCAGTGGG GGATGGGGCGAGGGGACATGGCAGTGTGGACGTGGTGGTGGGACGTGGCA GTAGGGGACGTGGCAGTGTG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1930037	T T	TCCCCTCG others(89): Show TCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGC CACGTCCCCTCGCCCCATCCCCCACTGCCACGTCCCCTCGCCCCGTC	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0034 a0002c0002t0001g0034	1	240	0.0042	96	c.180 others(115): Show c.1807+6649_1807+6650insGACGGGGCGAGGGGACGTGGCAGTGG GGGATGGGGCGAGGGGACGTGGCAGTGGGGACGGGGCGAGGGGACGTGGC AGTGGGGACGGGGCGAGGGG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MAEA_chr4_1284891_1345137	1330323	T T	TCTCTCTC others(89): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCCTCTCTCGTCTCTCTCTCGTCT CTCTCTCGTCTCTCTCTCGTCTCTCTCTCGTCTCTCTCTCGTCTCTC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	333	0.0030	96	c.657 others(113): Show c.657-2432_657-2431insCTCTCTCTCTCTCTCTCTCTCTCTCCTC TCTCGTCTCTCTCTCGTCTCTCTCTCGTCTCTCTCTCGTCTCTCTCTCGT CTCTCTCTCGTCTCTCCT	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAEA_chr4_1284891_1345137	1333831	C C	CGTGTGCT others(89): Show CGTGTGCTCACCCCTGCACCCATCCCATGCCTACCGTGCTCACCCCCCAT GCCCACCCCATGCCCACCATGTGCTCACCCCTGCACCCACCCCCATG	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	380	0.0026	96	c.765 others(111): Show c.765+966_765+967insGTGTGCTCACCCCTGCACCCATCCCATGCC TACCGTGCTCACCCCCCATGCCCACCCCATGCCCACCATGTGCTCACCCC TGCACCCACCCCCATG	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	6/8			chr4	TogoVar
MAEA_chr4_1284891_1345137	1333845	C C	CCCTGCAC others(89): Show CCCTGCACCCATCCCATGCCTACCGTGCTCACCCCCATGCCCACCCCATG CCCACCATGTGCCCACCCCTGCACCCACCCCCATGCCCGTGTGCCCA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01167.hp1 HG01169.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0048 a0001c0002t0001g0050 a0001c0002t0001g0048 a0001c0002t0001g0050	2	385	0.0052	96	c.765 others(111): Show c.765+982_765+983insTGCACCCATCCCATGCCTACCGTGCTCACC CCCATGCCCACCCCATGCCCACCATGTGCCCACCCCTGCACCCACCCCCA TGCCCGTGTGCCCACC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAEA_chr4_1284891_1345137	1333971	C C	CCCACCAT others(89): Show CCCACCATGTGCTCACCCCTGCATCCACCCCCATGCCCACCATGTGCTCA CCCCTGCATCCACCCCCATGCCCACCATGTGCTCACCCCCATGCCCA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0167 a0001c0003t0001g0167	1	373	0.0027	96	c.765 others(113): Show c.765+1108_765+1109insACCATGTGCTCACCCCTGCATCCACCCC CATGCCCACCATGTGCTCACCCCTGCATCCACCCCCATGCCCACCATGTG CTCACCCCCATGCCCACC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MALL_chr2_110078870_110120822	110091176	C C	CGTATATA others(89): Show CGTATATATGTATATATACGTATATATACATATATACGTATATATGTATA TATACGTATATATACATATATACGTATATATGTATATATACGTATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(195): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00738.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01361.hp1 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02273.hp1 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp2 NA18522.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp2 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp2 NA18979.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18989.hp2 NA18992.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19065.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19076.hp1 NA19076.hp2 NA19078.hp1 NA19078.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA20129.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0018 a0001c0001t0019 a0001c0001t0023 a0001c0001t0024 a0001c0001t0028 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037	a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0012 others(176): Show a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0061 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0146 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0245 a0001c0001t0001g0249 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0022 a0001c0001t0002g0057 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0081 a0001c0001t0002g0090 a0001c0001t0002g0092 a0001c0001t0002g0097 a0001c0001t0002g0133 a0001c0001t0002g0139 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0154 a0001c0001t0002g0163 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0193 a0001c0001t0002g0215 a0001c0001t0002g0231 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0269 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0004g0282 a0001c0001t0006g0039 a0001c0001t0006g0040 a0001c0001t0006g0042 a0001c0001t0006g0043 a0001c0001t0006g0044 a0001c0001t0006g0046 a0001c0001t0006g0047 a0001c0001t0006g0049 a0001c0001t0006g0050 a0001c0001t0006g0053 a0001c0001t0006g0183 a0001c0001t0007g0220 a0001c0001t0008g0151 a0001c0001t0008g0173 a0001c0001t0008g0214 a0001c0001t0008g0236 a0001c0001t0008g0246 a0001c0001t0008g0247 a0001c0001t0008g0248 a0001c0001t0008g0250 a0001c0001t0008g0253 a0001c0001t0008g0254 a0001c0001t0009g0188 a0001c0001t0009g0192 a0001c0001t0009g0277 a0001c0001t0010g0083 a0001c0001t0010g0244 a0001c0001t0011g0082 a0001c0001t0011g0140 a0001c0001t0011g0280 a0001c0001t0018g0189 a0001c0001t0018g0263 a0001c0001t0019g0035 a0001c0001t0019g0155 a0001c0001t0023g0240 a0001c0001t0024g0266 a0001c0001t0028g0106 a0001c0001t0032g0251 a0001c0001t0033g0113 a0001c0001t0034g0093 a0001c0001t0035g0230 a0001c0001t0036g0261 a0001c0001t0037g0075	198	291	0.6804	96	c.273 others(111): Show c.273+426_273+427insATATACGTATATATACATATATACGTATAT ATGTATATATACGTATATATACATATATACGTATATATGTATATATACGT ATATATACATATATAC	MALL	ENSG00000144063.4	transcript	ENST00000272462.3	protein_coding	2/3			chr2	TogoVar
MALL_chr2_110078870_110120822	110115479	T T	TCTCGGTC others(89): Show TCTCGGTCCGGTCTGGGTCTCTCTCGGCGCGGTCCGGTCTGGGTCCGAGG CCGGTCTCCCCCCACCCTCTCTGCAGGTGGCCCCTGTGCTCGCTCCC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02647.hp2 HG03579.hp2 others(3): Show HG02280.hp2 HG02647.hp2 HG03579.hp2 HG06807.hp1 NA19030.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0005 a0001c0003t0012 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0003t0012 a0001c0003t0041	a0001c0001t0001g0029 a0001c0001t0001g0273 a0001c0001t0005g0275 others(2): Show a0001c0001t0001g0029 a0001c0001t0001g0273 a0001c0001t0005g0275 a0001c0003t0012g0276 a0001c0003t0041g0274	6	200	0.0300	96	c.105 others(111): Show c.105+208_105+209insGGGAGCGAGCACAGGGGCCACCTGCAGAGA GGGTGGGGGGAGACCGGCCTCGGACCCAGACCGGACCGCGCCGAGAGAGA CCCAGACCGGACCGAG	MALL	ENSG00000144063.4	transcript	ENST00000272462.3	protein_coding	1/3			chr2	TogoVar
MALL_chr2_110078870_110120822	110115479	T T	TCTCGGTC others(89): Show TCTCGGTCCGGTCTGGGTCTCTCTCGGCGCGGTCCGGTCTGGGTCCGAGG CCGGTCTCCCCCCCCACTCTCTGCAGGTGGCCCCTGTGCTCGCTCCC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02976.hp2 HG03098.hp2 others(1): Show HG02258.hp1 HG02976.hp2 HG03098.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0019 a0001c0004t0029 a0001c0001t0001 a0001c0001t0019 a0001c0004t0029	a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0019g0035 others(1): Show a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0019g0035 a0001c0004t0029g0038	4	198	0.0202	96	c.105 others(111): Show c.105+208_105+209insGGGAGCGAGCACAGGGGCCACCTGCAGAGA GTGGGGGGGGAGACCGGCCTCGGACCCAGACCGGACCGCGCCGAGAGAGA CCCAGACCGGACCGAG	MALL	ENSG00000144063.4	transcript	ENST00000272462.3	protein_coding	1/3			chr2	TogoVar
MALL_chr2_110078870_110120822	110115479	T T	TCTCGGTC others(89): Show TCTCGGTCCGGTCTGGGTCTCTCTCGGCGCGGTCCGGTCTGGGTCCGAGG CCGGTCTCCCCCCCCCCTCTCTGCAGGTGGCCCCTGTGCTCGCTCCC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02897.hp2 HG02818.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0022 a0001c0001t0003 a0001c0001t0022	a0001c0001t0003g0031 a0001c0001t0022g0030 a0001c0001t0003g0031 a0001c0001t0022g0030	2	196	0.0102	96	c.105 others(111): Show c.105+208_105+209insGGGAGCGAGCACAGGGGCCACCTGCAGAGA GGGGGGGGGGAGACCGGCCTCGGACCCAGACCGGACCGCGCCGAGAGAGA CCCAGACCGGACCGAG	MALL	ENSG00000144063.4	transcript	ENST00000272462.3	protein_coding	1/3			chr2	TogoVar
MALL_chr2_110078870_110120822	110115544	C C	CCTCTCTG others(89): Show CCTCTCTGCAGGTGGCCCCTGTGCTCGCTCCCCTCGGTCCGGTCTGGGTC TCTCTCGGCGCGGTCCGGTCTGGGTCCGAGGCCGGTCTCCCCCCCCT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02257.hp1 HG02559.hp1 others(8): Show HG01884.hp2 HG02257.hp1 HG02559.hp1 HG02572.hp1 HG02630.hp2 HG02723.hp1 HG02809.hp1 HG02886.hp1 HG02965.hp1 HG03225.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0006 a0001c0002t0004 a0001c0001t0003 a0001c0001t0006 a0001c0002t0004	a0001c0001t0003g0045 a0001c0001t0006g0039 a0001c0001t0006g0040 others(8): Show a0001c0001t0003g0045 a0001c0001t0006g0039 a0001c0001t0006g0040 a0001c0001t0006g0042 a0001c0001t0006g0043 a0001c0001t0006g0044 a0001c0001t0006g0046 a0001c0001t0006g0047 a0001c0001t0006g0048 a0001c0001t0006g0049 a0001c0002t0004g0041	11	332	0.0331	96	c.105 others(111): Show c.105+143_105+144insAGGGGGGGGAGACCGGCCTCGGACCCAGAC CGGACCGCGCCGAGAGAGACCCAGACCGGACCGAGGGGAGCGAGCACAGG GGCCACCTGCAGAGAG	MALL	ENSG00000144063.4	transcript	ENST00000272462.3	protein_coding	1/3			chr2	TogoVar
MALRD1_chr10_19043801_19739478	19238208	T T	TATATGTA others(89): Show TATATGTAATATACATAATATATATTATATATAATATGTAATATACATAA TATATATTATATATAATATGTAATATACATAATATATATTATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0002 a0003c0001t0002	a0003c0001t0002g0091 a0003c0001t0002g0091	1	145	0.0069	96	c.299 others(117): Show c.2992-19457_2992-19362dupATATATTATATATAATATGTAATA TACATAATATATATTATATATAATATGTAATATACATAATATATATTATA TATAATATGTAATATACATAAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	18/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19315578	T T	TATTTATA others(89): Show TATTTATATATAAATATTTATATATATTTATATAAATATATAAATATATA TAAATATAATTTATATAAATATATAAATTATAAATTATAAATATTTA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02622.hp2 HG02630.hp2 others(3): Show HG00642.hp1 HG02622.hp2 HG02630.hp2 HG02717.hp2 HG02976.hp2 NA20300.hp2	a0022 a0026 a0053 others(3): Show a0022 a0026 a0053 a0055 a0057 a0060	a0022c0064 a0026c0082 a0053c0106 others(3): Show a0022c0064 a0026c0082 a0053c0106 a0055c0036 a0057c0035 a0060c0063	a0022c0064t0001 a0026c0082t0001 a0053c0106t0002 others(3): Show a0022c0064t0001 a0026c0082t0001 a0053c0106t0002 a0055c0036t0001 a0057c0035t0001 a0060c0063t0001	a0022c0064t0001g0003 a0026c0082t0001g0052 a0053c0106t0002g0076 others(3): Show a0022c0064t0001g0003 a0026c0082t0001g0052 a0053c0106t0002g0076 a0055c0036t0001g0006 a0057c0035t0001g0126 a0060c0063t0001g0012	6	123	0.0488	96	c.342 others(115): Show c.3420-8371_3420-8370insATTTATATATAAATATTTATATATAT TTATATAAATATATAAATATATATAAATATAATTTATATAAATATATAAA TTATAAATTATAAATATTTA	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	21/39			chr10	TogoVar
MAN2B2_chr4_6570189_6628362	6579099	G G	GCACCACC others(89): Show GCACCACCACCATCACCACCACCACCACCACCACCACCATCACCACCACT ACCACCATAATCACCACCACCACCACCACCGCCACCATCACCACCAT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0012 a0012	a0012c0022 a0012c0022	a0012c0022t0001 a0012c0022t0001	a0012c0022t0001g0286 a0012c0022t0001g0286	1	323	0.0031	96	c.391 others(111): Show c.391+618_391+619insCCACCACCACCACCACCACCATCACCACCA CTACCACCATAATCACCACCACCACCACCACCGCCACCATCACCACCATC ACCACCACCATCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAN2B2_chr4_6570189_6628362	6611558	A A	ATCTTTTC others(89): Show ATCTTTTCCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0014 a0014	a0014c0051 a0014c0051	a0014c0051t0001 a0014c0051t0001	a0014c0051t0001g0218 a0014c0051t0001g0218	1	352	0.0028	96	c.256 others(113): Show c.2563+294_2563+295insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACT GCAGTCTTTTCCTTTCTT	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAP2K2_chr19_4085321_4129122	4123617	G G	GTCCTCCC others(89): Show GTCCTCCCCCGAGGGCCCCCTGCCCCGTCCTCCCCCGAGGGTCCCCTGAA CCTCTCGCCCCATCCTCCTTCGAAGGCCCCCTGCACCCCTCGCCCCA	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0017 a0001c0002t0001g0017	1	321	0.0031	96	c.92+ others(109): Show c.92+166_92+167insTGGGGCGAGGGGTGCAGGGGGCCTTCGAAGGA GGATGGGGCGAGAGGTTCAGGGGACCCTCGGGGGAGGACGGGGCAGGGGG CCCTCGGGGGAGGA	MAP2K2	ENSG00000126934.15	transcript	ENST00000262948.10	protein_coding	1/10			chr19	TogoVar
MAP3K13_chr3_185358136_185494094	185455574	A A	ACATATAT others(89): Show ACATATATATGATATATATGAGATATATGACATATATATCATATATATGA GATATATGACATATATATCATATATATGATATATATGACATATATCT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02055.hp2 HG02257.hp1 others(6): Show HG01175.hp1 HG02055.hp2 HG02257.hp1 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02723.hp1 HG03471.hp1 NA19030.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0005c0012 a0001c0001 a0001c0003 a0005c0012	a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 others(4): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 a0001c0003t0009 a0001c0003t0036 a0001c0003t0041 a0005c0012t0002	a0001c0001t0003g0230 a0001c0001t0003g0271 a0001c0001t0007g0104 others(6): Show a0001c0001t0003g0230 a0001c0001t0003g0271 a0001c0001t0007g0104 a0001c0001t0010g0217 a0001c0003t0009g0213 a0001c0003t0009g0222 a0001c0003t0036g0220 a0001c0003t0041g0047 a0005c0012t0002g0206	9	257	0.0350	96	c.127 others(115): Show c.1278+4206_1278+4207insGACATATATATCATATATATGAGATA TATGACATATATATCATATATATGATATATATGACATATATCTCATATAT ATGATATATATGAGATATAT	MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
MAP3K13_chr3_185358136_185494094	185455574	A A	ACATATAT others(89): Show ACATATATATGATATATATGAGATATATGACATATATATCATATATATGA GATATATGACATATATCTCATATATATGATATATATGAGATATATCT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02148.hp2 HG03486.hp1 others(10): Show HG00408.hp1 HG02148.hp2 HG03486.hp1 HG04204.hp2 NA18943.hp1 NA18984.hp1 NA18992.hp1 NA18994.hp2 NA19002.hp2 NA19003.hp2 NA19010.hp1 NA19058.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0042 a0001c0001t0054	a0001c0001t0001g0258 a0001c0001t0002g0022 a0001c0001t0002g0023 others(10): Show a0001c0001t0001g0258 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0061 a0001c0001t0002g0231 a0001c0001t0005g0014 a0001c0001t0005g0060 a0001c0001t0042g0030 a0001c0001t0054g0007	13	261	0.0498	96	c.127 others(115): Show c.1278+4206_1278+4207insGACATATATATCATATATATGAGATA TATGACATATATCTCATATATATGATATATATGAGATATATCTCATATAT ATGATATATATGAGATATAT	MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
MAP3K13_chr3_185358136_185494094	185455574	A A	ACATATAT others(89): Show ACATATATATGATATATATGAGATATATGACATATATATCATATATATGA TATATATGAGATATATCTCATATATATGATATATATGAGATATATCT	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0021	1	249	0.0040	96	c.127 others(115): Show c.1278+4206_1278+4207insGACATATATATCATATATATGATATA TATGAGATATATCTCATATATATGATATATATGAGATATATCTCATATAT ATGATATATATGAGATATAT	MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
MAP3K13_chr3_185358136_185494094	185455595	G G	GATATATG others(89): Show GATATATGACATATATATCATATATATGAGATATATGACATATATCTCAT ATATATGATATATATGACATATATCTCATATATATGAGATATATGAT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0002 a0001c0018t0002	a0001c0018t0002g0215 a0001c0018t0002g0215	1	273	0.0037	96	c.127 others(115): Show c.1278+4206_1278+4207insGACATATATATCATATATATGAGATA TATGACATATATCTCATATATATGATATATATGACATATATCTCATATAT ATGAGATATATGATATATAT	MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
MAP3K13_chr3_185358136_185494094	185455645	A A	AGATATAT others(89): Show AGATATATGAGATATATCTCATATATATGATATATATGAGATATATCTCA TATATATGAGATATATGAGATATATATATCATATATATGAGATATAT	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA19057.hp2 NA18973.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0006 a0001c0001t0006g0008 a0001c0001t0006g0006 a0001c0001t0006g0008	2	199	0.0101	96	c.127 others(115): Show c.1278+4257_1278+4258insGAGATATATCTCATATATATGATATA TATGAGATATATCTCATATATATGAGATATATGAGATATATATATCATAT ATATGAGATATATGATATAT	MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
MAP3K13_chr3_185358136_185494094	185455645	A A	ATATATAT others(89): Show ATATATATGAGATATATCTCATATATATGATATATATGAGATATATCTCA TATATATGATATATATGAGATATATATATCATATATATGAGATATAT	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0039 a0001c0001t0038g0039	1	198	0.0051	96	c.127 others(115): Show c.1278+4250_1278+4251insTATATATGAGATATATCTCATATATA TGATATATATGAGATATATCTCATATATATGATATATATGAGATATATAT ATCATATATATGAGATATAT	MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	7/13			chr3	TogoVar
MAP3K15_chrX_19355059_19520508	19478085	A A	AGGGGGGA others(89): Show AGGGGGGAGAGGGGGGGAGGGGGAGAGGGGGGAGGGGGGAGGGGGAGAGG GGGGAGGGGGGAGGGGGAGGGGGGGAGGGGGGGAGGGGGGAGAGGGG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	145	0.0069	96	c.525 others(113): Show c.525+8396_525+8397insCCCCTCTCCCCCCTCCCCCCCTCCCCCC CTCCCCCTCCCCCCTCCCCCCTCTCCCCCTCCCCCCTCCCCCCTCTCCCC CTCCCCCCCTCTCCCCCC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MAPK11_chr22_50258713_50275380	50274625	C C	CCCCCACC others(89): Show CCCCCACCTCCCCTCAGCACCCCTCCCAGCCCCCCTCCACCTCCCCCAGC ACCCCTCCCAACCCCCCACCTCCCCCCAGCACCCCTCCCAGCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	424	0.0024	96	c.-43 others(107): Show c.-4334_-4333insAGGGGGCTGGGAGGGGTGCTGGGGGGAGGTGGGG GGTTGGGAGGGGTGCTGGGGGAGGTGGAGGGGGGCTGGGAGGGGTGCTGA GGGGAGGTGGGG	MAPK11	ENSG00000185386.15	transcript	ENST00000330651.11	protein_coding		4246		chr22	TogoVar
MAPK11_chr22_50258713_50275380	50274636	T T	TCAGCACC others(89): Show TCAGCACCCCTCCCAGCCCCCCTCCACCTCCCCCAGCACCCCTCCCAACC CCCCACCTCCCCCCCAGCACCCCTCCCAGCCCCCTCCACCTCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0025	1	262	0.0038	96	c.-43 others(107): Show c.-4345_-4344insGGGGGGAGGTGGAGGGGGCTGGGAGGGGTGCTGG GGGGGAGGTGGGGGGTTGGGAGGGGTGCTGGGGGAGGTGGAGGGGGGCTG GGAGGGGTGCTG	MAPK11	ENSG00000185386.15	transcript	ENST00000330651.11	protein_coding		4257		chr22	TogoVar
MARCHF1_chr4_163519718_164389019	163894652	C C	CATATATA others(89): Show CATATATATATATGCATGTGATGCATATATATATATGCATGTGATGCATA TATATATATGCATGTGATGCATATATATATATGCATGTGATGCATAT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0006 a0002c0003t0001g0006	1	5	0.2000	96	c.-38 others(115): Show c.-38-40484_-38-40483insATATGCATCACATGCATATATATATA TGCATCACATGCATATATATATATGCATCACATGCATATATATATATGCA TCACATGCATATATATATAT	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	3/9			chr4	TogoVar
MAST4_chr5_66591393_67174593	66748436	C C	CCTCCCTC others(89): Show CCTCCCTCTCTCCCTCCCTCCCTCCCTCCCTGTCTCCCTCCCTCCCTCCC TCTCTCCCTGTCTCCCTCCCTCCCTCCCTCTCTCCCTCCCTCCCTCA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01099.hp1 HG01099.hp2 others(51): Show HG00323.hp2 HG01099.hp1 HG01099.hp2 HG01168.hp2 HG01256.hp1 HG01257.hp2 HG01361.hp1 HG01361.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03834.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA19043.hp1 NA19090.hp2 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0008 a0014 a0015 a0016	a0001c0001 a0001c0002 a0001c0003 others(16): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0001c0033 a0001c0035 a0001c0036 a0002c0004 a0002c0018 a0003c0005 a0004c0007 a0004c0011 a0004c0015 a0004c0017 a0005c0006 a0008c0010 a0014c0034 a0015c0020 a0016c0016	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(38): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0026 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0016 a0001c0002t0019 a0001c0002t0020 a0001c0002t0024 a0001c0003t0001 a0001c0003t0004 a0001c0003t0023 a0001c0008t0006 a0001c0033t0007 a0001c0035t0007 a0001c0036t0012 a0002c0004t0002 a0002c0004t0012 a0002c0018t0002 a0003c0005t0010 a0003c0005t0025 a0003c0005t0028 a0004c0007t0003 a0004c0007t0004 a0004c0007t0009 a0004c0007t0021 a0004c0011t0005 a0004c0011t0014 a0004c0015t0004 a0004c0017t0005 a0005c0006t0001 a0008c0010t0013 a0008c0010t0022 a0014c0034t0002 a0015c0020t0013 a0016c0016t0005	a0001c0001t0003g0035 a0001c0001t0003g0047 a0001c0001t0003g0050 others(51): Show a0001c0001t0003g0035 a0001c0001t0003g0047 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0004g0033 a0001c0001t0005g0040 a0001c0001t0006g0108 a0001c0001t0008g0027 a0001c0001t0008g0078 a0001c0001t0008g0084 a0001c0001t0009g0041 a0001c0001t0026g0104 a0001c0002t0001g0069 a0001c0002t0003g0038 a0001c0002t0005g0037 a0001c0002t0005g0053 a0001c0002t0005g0054 a0001c0002t0016g0070 a0001c0002t0019g0067 a0001c0002t0020g0031 a0001c0002t0024g0049 a0001c0003t0001g0089 a0001c0003t0004g0043 a0001c0003t0023g0046 a0001c0008t0006g0085 a0001c0033t0007g0013 a0001c0035t0007g0008 a0001c0036t0012g0015 a0002c0004t0002g0019 a0002c0004t0002g0021 a0002c0004t0002g0022 a0002c0004t0002g0023 a0002c0004t0002g0024 a0002c0004t0012g0002 a0002c0018t0002g0018 a0003c0005t0010g0029 a0003c0005t0010g0082 a0003c0005t0025g0105 a0003c0005t0028g0073 a0004c0007t0003g0061 a0004c0007t0004g0065 a0004c0007t0009g0057 a0004c0007t0021g0056 a0004c0011t0005g0059 a0004c0011t0014g0066 a0004c0015t0004g0064 a0004c0017t0005g0062 a0005c0006t0001g0093 a0008c0010t0013g0060 a0008c0010t0022g0063 a0014c0034t0002g0010 a0015c0020t0013g0003 a0016c0016t0005g0058	54	56	0.9643	96	c.364 others(115): Show c.364-11258_364-11257insCCTCCCTCCCTCCCTGTCTCCCTCCC TCCCTCCCTCTCTCCCTGTCTCCCTCCCTCCCTCCCTCTCTCCCTCCCTC CCTCACTCCCTCTCTCCCTC	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
MBD3L4_chr19_7032749_7045179	7034452	A A	AAATATAT others(89): Show AAATATATAATTTATATATAATTATAAATACATTATATATAATTTATATA TAATTATAAATACATTATATATAATTTATATATAATTATAAATACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG01106.hp2 HG01123.hp1 others(24): Show HG00735.hp2 HG01106.hp2 HG01123.hp1 HG01169.hp2 HG01361.hp2 HG02055.hp1 HG02055.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02738.hp1 HG02922.hp1 HG02976.hp1 HG03130.hp1 HG03490.hp1 HG03492.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG04199.hp2 NA18969.hp1 NA19043.hp1 NA19084.hp2 NA19240.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	27	223	0.1211	96	c.34 others(107): Show c.3408_*3409insATGTATTTATAATTATATATAAATTATATATAAT GTATTTATAATTATATATAAATTATATATAATGTATTTATAATTATATAT AAATTATATATT	MBD3L4	ENSG00000205718.10	transcript	ENST00000381394.9	protein_coding		3296		chr19	TogoVar
MBD3L4_chr19_7032749_7045179	7034467	A A	ATATAATT others(89): Show ATATAATTATAAATACATTATATATAATTTATATATAATTATAAATACAT TATATATAATTTATATATAATTATAAATACATTATATATAATTTATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	262	0.0038	96	c.33 others(107): Show c.3393_*3394insCATAAATTATATATAATGTATTTATAATTATATA TAAATTATATATAATGTATTTATAATTATATATAAATTATATATAATGTA TTTATAATTATA	MBD3L4	ENSG00000205718.10	transcript	ENST00000381394.9	protein_coding		3281		chr19	TogoVar
MBD3L5_chr19_7025578_7038011	7034452	A A	AAATATAT others(89): Show AAATATATAATTTATATATAATTATAAATACATTATATATAATTTATATA TAATTATAAATACATTATATATAATTTATATATAATTATAAATACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01123.hp2 HG01169.hp1 others(19): Show HG01106.hp2 HG01123.hp2 HG01169.hp1 HG01361.hp2 HG02055.hp1 HG02055.hp2 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02738.hp2 HG03017.hp1 HG03130.hp2 HG03492.hp2 HG03516.hp2 HG03710.hp1 NA18522.hp1 NA18995.hp2 NA19084.hp2 NA19091.hp2 NA19240.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0020 a0002c0002 others(2): Show a0001c0001 a0001c0020 a0002c0002 a0002c0017 a0002c0018	a0001c0001t0001 a0001c0020t0001 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0020t0001 a0002c0002t0001 a0002c0017t0001 a0002c0018t0001	a0001c0001t0001g0001 a0001c0001t0001g0020 a0001c0020t0001g0002 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0020 a0001c0020t0001g0002 a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0017t0001g0036 a0002c0018t0001g0002	22	215	0.1023	96	c.15 others(107): Show c.1558_*1559insAATATATAATTTATATATAATTATAAATACATTA TATATAATTTATATATAATTATAAATACATTATATATAATTTATATATAA TTATAAATACAT	MBD3L5	ENSG00000237247.6	transcript	ENST00000329753.5	protein_coding		1442		chr19	TogoVar
MBD3L5_chr19_7025578_7038011	7034452	A A	AAATATAT others(89): Show AAATATATAATTTATATATAATTATAAATACATTATATATAATTTATATA TAATTATAAATATATTATATATAATTTATATATAATTATAAATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0002 a0001c0011t0002	a0001c0011t0002g0007 a0001c0011t0002g0007	1	194	0.0052	96	c.15 others(107): Show c.1558_*1559insAATATATAATTTATATATAATTATAAATACATTA TATATAATTTATATATAATTATAAATATATTATATATAATTTATATATAA TTATAAATATAT	MBD3L5	ENSG00000237247.6	transcript	ENST00000329753.5	protein_coding		1442		chr19	TogoVar
MBD3L5_chr19_7025578_7038011	7034467	A A	ATATAATT others(89): Show ATATAATTATAAATACATTATATATAATTTATATATAATTATAAATACAT TATATATAATTTATATATAATTATAAATACATTATATATAATTTATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0044 a0002c0002t0001g0044	1	248	0.0040	96	c.15 others(107): Show c.1573_*1574insTATAATTATAAATACATTATATATAATTTATATA TAATTATAAATACATTATATATAATTTATATATAATTATAAATACATTAT ATATAATTTATG	MBD3L5	ENSG00000237247.6	transcript	ENST00000329753.5	protein_coding		1457		chr19	TogoVar
MBNL3_chrX_132364320_132494038	132396739	T T	TATATATT others(89): Show TATATATTCATATATATATTCATATATATTCATATATATATTCATATATA TTCATATATATATTCATATATATTCATATATATTCATATATATATTC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0109 a0001c0001t0021g0109	1	180	0.0056	96	c.343 others(113): Show c.343-4406_343-4405insGAATATATATATGAATATATATGAATAT ATATGAATATATATATGAATATATATGAATATATATATGAATATATATGA ATATATATATGAATATAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MBOAT1_chr6_20094684_20217469	20111817	T T	TATATATA others(89): Show TATATATACATATATATATACATATATATACATATATATATACATATATA TACATATATATACATATATATATACATATATATACATATATATATAC	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA19077.hp1 NA18952.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0109 a0001c0001t0002g0110	2	323	0.0062	96	c.120 others(115): Show c.1209+1058_1209+1059insGTATATATATATGTATATATATGTAT ATATATATGTATATATATGTATATATATGTATATATATATGTATATATAT GTATATATATATGTATATAT	MBOAT1	ENSG00000172197.11	transcript	ENST00000324607.8	protein_coding	11/12			chr6	TogoVar
MBP_chr18_76973833_77137783	77117923	T T	TCAGTGGG others(89): Show TCAGTGGGTTGGGGCGGGATGGGGTCAGTGGGTTGGGGCGGGATGGGGTC AGTGGGTTGGGGCGGGACGGGGACAGGGGGTTGGGGCGGGATGGGGA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG03688.hp2 HG03704.hp2 HG02698.hp1 HG03688.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0001 a0001c0001t0003 a0001c0001t0009	a0001c0001t0001g0133 a0001c0001t0003g0130 a0001c0001t0009g0134 a0001c0001t0001g0133 a0001c0001t0003g0130 a0001c0001t0009g0134	3	327	0.0092	96	c.-25 others(115): Show c.-25-12638_-25-12637insTCCCCATCCCGCCCCAACCCCCTGTC CCCGTCCCGCCCCAACCCACTGACCCCATCCCGCCCCAACCCACTGACCC CATCCCGCCCCAACCCACTG	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	1/8			chr18	TogoVar
MCC_chr5_113017106_113493453	113333838	T T	TATATACA others(89): Show TATATACATATATATGTACATATGTACATATATGTATATATGTACATATG TACATATATGTATATATGTACATATGTACATATATGTATATATGTAC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0045 a0001c0045	a0001c0045t0027 a0001c0045t0027	a0001c0045t0027g0061 a0001c0045t0027g0061	1	89	0.0112	96	c.627 others(113): Show c.627+6680_627+6681insGTACATATATACATATATGTACATATGT ACATATATACATATATGTACATATGTACATATATACATATATGTACATAT GTACATATATATGTATAT	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	3/18			chr5	TogoVar
MCTP1_chr5_94698690_95290094	94953923	A A	ATATGCAT others(89): Show ATATGCATATATATACAAATATATATATGCATATATATACAAATATAATA TATGCATATATATACAAATATATATATGCATATATATATACAAATAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA19009.hp1 HG02145.hp1 NA19009.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0012 a0001c0002t0007 a0001c0002t0012	a0001c0002t0007g0062 a0001c0002t0012g0017 a0001c0002t0007g0062 a0001c0002t0012g0017	2	95	0.0211	96	c.839 others(111): Show c.839-563_839-562insATATTTGTATATATATATGCATATATATAT TTGTATATATATGCATATATTATATTTGTATATATATGCATATATATATT TGTATATATATGCATA	MCTP1	ENSG00000175471.20	transcript	ENST00000515393.6	protein_coding	2/22			chr5	TogoVar

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