Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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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
MLPH_chr2_237482251_237560322	237543546	G G	GGGACAGT others(11): Show GGGACAGTGGTGAGTGGGA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	286	0.0035	18	c.153 others(35): Show c.1539+904_1539+905insAGGACAGTGGTGAGTGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543613	G G	GGGCACGG others(11): Show GGGCACGGTGGTGAGTGGA	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0086 a0002c0002t0001g0086	1	286	0.0035	18	c.153 others(35): Show c.1539+956_1539+957insCACGGTGGTGAGTGGAGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543630	G G	GGGCACGG others(11): Show GGGCACGGTGGTGAGTGGA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0035 a0035	a0035c0030 a0035c0030	a0035c0030t0001 a0035c0030t0001	a0035c0030t0001g0035 a0035c0030t0001g0035	1	286	0.0035	18	c.153 others(35): Show c.1539+973_1539+974insCACGGTGGTGAGTGGAGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543634	G G	GACAGTGG others(11): Show GACAGTGGTGAGTGGGGGC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0016 a0016	a0016c0025 a0016c0025	a0016c0025t0003 a0016c0025t0003	a0016c0025t0003g0270 a0016c0025t0003g0270	1	286	0.0035	18	c.153 others(35): Show c.1539+991_1539+992insGCACAGTGGTGAGTGGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543646	T T	TGGGGACA others(11): Show TGGGGACAGTGGTGAGTTG	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0013 a0005c0004t0001g0013	1	286	0.0035	18	c.153 others(37): Show c.1539+1003_1539+1004insTGGGGGACAGTGGTGAGT	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543717	G G	GGGCACGG others(11): Show GGGCACGGTGGTGAGTGGA	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0069 a0002c0002t0001g0069	1	286	0.0035	18	c.153 others(37): Show c.1539+1060_1539+1061insCACGGTGGTGAGTGGAGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543733	T T	TGGGGGAC others(11): Show TGGGGGACAGTGGTGAGTG	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	286	0.0035	18	c.153 others(37): Show c.1539+1077_1539+1094dupGGGACAGTGGTGAGTGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543802	T T	TGGGCACG others(11): Show TGGGCACGGTGGTGAGTGG	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0055 a0002c0002t0002g0055	1	286	0.0035	18	c.153 others(37): Show c.1539+1146_1539+1147insCACGGTGGTGAGTGGGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543875	G G	GCACGGTA others(11): Show GCACGGTAGTGACTGGGGC	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0012 a0012	a0012c0013 a0012c0013	a0012c0013t0001 a0012c0013t0001	a0012c0013t0001g0074 a0012c0013t0001g0074	1	286	0.0035	18	c.153 others(37): Show c.1539+1216_1539+1217insCACGGTAGTGACTGGGGC	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15			chr2	TogoVar
MLPH_chr2_237482251_237560322	237543885	G G	GAGTGGGG others(11): Show GAGTGGGGGGACAGTGGCA	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0252 a0004c0005t0002g0252	1	286	0.0035	18	c.153 others(37): Show c.1539+1233_1539+1234insGGACAGTGGCAAGTGGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543889	G G	GGGGACAG others(11): Show GGGGACAGTGGTGAGTGGA	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0066 a0002c0002t0001g0066	1	286	0.0035	18	c.153 others(37): Show c.1539+1247_1539+1248insAGGGACAGTGGTGAGTGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543925	G G	GCACGGTG others(11): Show GCACGGTGGTGAGTGGGGC	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG03831.hp2 NA18998.hp2 HG02129.hp1 HG03831.hp2 NA18998.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0041 a0002c0002t0002g0040 a0002c0002t0002g0063 a0002c0002t0001g0041 a0002c0002t0002g0040 a0002c0002t0002g0063	3	286	0.0105	18	c.153 others(37): Show c.1539+1266_1539+1267insCACGGTGGTGAGTGGGGC	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15			chr2	TogoVar
MLPH_chr2_237482251_237560322	237543957	G G	GGAGGGGA others(11): Show GGAGGGGACAGTGGTGAGT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0013 a0013	a0013c0017 a0013c0017	a0013c0017t0010 a0013c0017t0010	a0013c0017t0010g0253 a0013c0017t0010g0253	1	286	0.0035	18	c.153 others(37): Show c.1539+1299_1539+1300insAGGGGACAGTGGTGAGTG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543957	G G	GGGCACGG others(11): Show GGGCACGGTGGTGAGTGGA	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0051 a0002c0002t0001g0051	1	286	0.0035	18	c.153 others(37): Show c.1539+1300_1539+1301insCACGGTGGTGAGTGGAGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543974	G G	GGGCACGG others(11): Show GGGCACGGTGGTGAGTGGA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0091 a0003c0003t0001g0091	1	286	0.0035	18	c.153 others(37): Show c.1539+1317_1539+1318insCACGGTGGTGAGTGGAGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237544029	G G	GCACGGTA others(11): Show GCACGGTAGTGACTGGGGC	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0188 a0004c0005t0001g0188	1	286	0.0035	18	c.153 others(37): Show c.1539+1370_1539+1371insCACGGTAGTGACTGGGGC	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15			chr2	TogoVar
MLPH_chr2_237482251_237560322	237544059	G G	GGGTGCAC others(11): Show GGGTGCACGGTAGTGAGTC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG06807.hp1 HG02809.hp1 HG06807.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0130 a0004c0005t0001g0137 a0004c0005t0001g0130 a0004c0005t0001g0137	2	286	0.0070	18	c.153 others(37): Show c.1539+1402_1539+1403insTGCACGGTAGTGAGTCGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237544062	G G	GGGACAGT others(11): Show GGGACAGTGGTGAGTGGGA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0011 a0011	a0011c0012 a0011c0012	a0011c0012t0001 a0011c0012t0001	a0011c0012t0001g0103 a0011c0012t0001g0103	1	286	0.0035	18	c.153 others(37): Show c.1539+1420_1539+1421insAGGACAGTGGTGAGTGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237544083	G G	GGTAGTGA others(11): Show GGTAGTGACTGGGGCGACA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0095 a0002c0002t0002g0095	1	286	0.0035	18	c.153 others(37): Show c.1539+1426_1539+1427insAGTGACTGGGGCGACAGT	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237544145	T T	TGGGGACA others(11): Show TGGGGACAGTGGTGAGTGG	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0132 a0002c0002t0001g0132	1	286	0.0035	18	c.153 others(37): Show c.1539+1515_1539+1532dupGTGAGTGGGGGGACAGTG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237544231	T T	TGGGCATG others(11): Show TGGGCATGGTAGTGAGTGG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0003 a0002c0008t0003	a0002c0008t0003g0231 a0002c0008t0003g0231	1	286	0.0035	18	c.153 others(37): Show c.1539+1575_1539+1576insCATGGTAGTGAGTGGGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237544254	A A	AGTGGTGA others(11): Show AGTGGTGAGTGGGTGCACG	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0004 a0004c0005t0004	a0004c0005t0004g0191 a0004c0005t0004g0191	1	286	0.0035	18	c.153 others(37): Show c.1539+1597_1539+1598insGGTGAGTGGGTGCACGGT	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237544349	T T	TGGGGACA others(11): Show TGGGGACAGTAGTGAGTGG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0094 a0001c0001t0002g0094	1	286	0.0035	18	c.153 others(37): Show c.1539+1694_1539+1711dupGACAGTAGTGAGTGGGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237544388	C C	CACGGTAG others(11): Show CACGGTAGTGACTGGGGCG	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0004 a0004c0005t0004	a0004c0005t0004g0191 a0004c0005t0004g0191	1	286	0.0035	18	c.153 others(37): Show c.1539+1731_1539+1732insGGTAGTGACTGGGGCGAC	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237544504	G G	GGGTGCAC others(11): Show GGGTGCACGGTAGTGAGTC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0003 a0006c0006t0003	a0006c0006t0003g0118 a0006c0006t0003g0118	1	286	0.0035	18	c.153 others(37): Show c.1539+1847_1539+1848insTGCACGGTAGTGAGTCGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237545182	G G	GGGGGGGA others(11): Show GGGGGGGACAGTGGTGAGT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0002 a0007c0007t0002	a0007c0007t0002g0227 a0007c0007t0002g0228 a0007c0007t0002g0227 a0007c0007t0002g0228	2	286	0.0070	18	c.154 others(37): Show c.1540-1423_1540-1422insGGGGGACAGTGGTGAGTG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLXIPL_chr7_73588202_73629522	73601176	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0001 a0009c0016t0001	a0009c0016t0001g0268 a0009c0016t0001g0268	1	276	0.0036	18	c.902 others(35): Show c.902-1499_902-1482dupACACACACACACACACAC	MLXIPL	ENSG00000009950.16	transcript	ENST00000313375.8	protein_coding	7/16			chr7	TogoVar
MLXIPL_chr7_73588202_73629522	73605782	T T	TGGCGACA others(11): Show TGGCGACATCAGCAGCAGC	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	276	0.0036	18	c.821 others(31): Show c.821-32_821-15dupGCTGCTGCTGATGTCGCC	MLXIPL	ENSG00000009950.16	transcript	ENST00000313375.8	protein_coding	6/16			chr7	TogoVar
MLXIP_chr12_122073756_122152344	122092916	T T	TGATGTGT others(11): Show TGATGTGTGTTGGTGTGTG	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0195 a0002c0004t0004g0195	1	354	0.0028	18	c.413 others(37): Show c.413+13659_413+13660insTGGTGTGTGGATGTGTGT	MLXIP	ENSG00000175727.15	transcript	ENST00000319080.12	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
MLXIP_chr12_122073756_122152344	122116053	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02559.hp2 HG02630.hp2 others(3): Show HG01884.hp2 HG02559.hp2 HG02630.hp2 HG02717.hp1 HG02922.hp1 HG06807.hp1	a0004 a0007 a0008 a0004 a0007 a0008	a0004c0007 a0007c0014 a0008c0020 a0004c0007 a0007c0014 a0008c0020	a0004c0007t0034 a0004c0007t0075 a0004c0007t0076 others(2): Show a0004c0007t0034 a0004c0007t0075 a0004c0007t0076 a0007c0014t0019 a0008c0020t0019	a0004c0007t0034g0335 a0004c0007t0034g0336 a0004c0007t0075g0338 others(3): Show a0004c0007t0034g0335 a0004c0007t0034g0336 a0004c0007t0075g0338 a0004c0007t0076g0337 a0007c0014t0019g0340 a0008c0020t0019g0341	6	354	0.0170	18	c.414 others(37): Show c.414-11185_414-11168dupCACACACACACACACACA	MLXIP	ENSG00000175727.15	transcript	ENST00000319080.12	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
MLXIP_chr12_122073756_122152344	122121010	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02647.hp1 HG02895.hp2 others(3): Show HG02615.hp2 HG02647.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0024 a0002c0002 a0002c0024	a0002c0002t0002 a0002c0002t0005 a0002c0002t0027 others(1): Show a0002c0002t0002 a0002c0002t0005 a0002c0002t0027 a0002c0024t0002	a0002c0002t0002g0330 a0002c0002t0005g0025 a0002c0002t0005g0039 others(3): Show a0002c0002t0002g0330 a0002c0002t0005g0025 a0002c0002t0005g0039 a0002c0002t0005g0041 a0002c0002t0027g0013 a0002c0024t0002g0332	6	354	0.0170	18	c.414 others(35): Show c.414-6245_414-6228dupTTTTTTTTTTTTTTTTTT	MLXIP	ENSG00000175727.15	transcript	ENST00000319080.12	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
MMAB_chr12_109548715_109578504	109556648	T T	TCTCTCTC others(11): Show TCTCTCTCACACACACACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0062 a0003c0002t0062	a0003c0002t0062g0093 a0003c0002t0062g0093	1	368	0.0027	18	c.37 others(27): Show c.379_*380insTGTGTGTGTGTGAGAGAG	MMAB	ENSG00000139428.12	transcript	ENST00000545712.7	protein_coding	9/9	379		chr12	TogoVar
MMAB_chr12_109548715_109578504	109556648	T T	TCTCTCTC others(11): Show TCTCTCTCTCACACACACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02970.hp2 HG03139.hp1 NA21309.hp2 HG02970.hp2 HG03139.hp1 NA21309.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0035 a0003c0002t0061 a0003c0002t0035 a0003c0002t0061	a0003c0002t0035g0027 a0003c0002t0061g0058 a0003c0002t0035g0027 a0003c0002t0061g0058	3	368	0.0082	18	c.37 others(27): Show c.379_*380insTGTGTGTGTGAGAGAGAG	MMAB	ENSG00000139428.12	transcript	ENST00000545712.7	protein_coding	9/9	379		chr12	TogoVar
MMAB_chr12_109548715_109578504	109556648	T T	TCTCTCTC others(11): Show TCTCTCTCTCTCACACACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0060 a0003c0002t0060	a0003c0002t0060g0083 a0003c0002t0060g0083	1	368	0.0027	18	c.37 others(27): Show c.379_*380insTGTGTGTGAGAGAGAGAG	MMAB	ENSG00000139428.12	transcript	ENST00000545712.7	protein_coding	9/9	379		chr12	TogoVar
MMACHC_chr1_45495300_45518382	45515598	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0002 a0001c0001t0015g0002	1	386	0.0026	18	c.63 others(29): Show c.6383_*6384insAAAAAAAAAAAAAAAAAA	MMACHC	ENSG00000132763.15	transcript	ENST00000401061.9	protein_coding		2217		chr1	TogoVar
MMADHC_chr2_149564637_149592775	149572335	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02145.hp1 HG00741.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0088 a0001c0001t0004g0089 a0001c0001t0002g0088 a0001c0001t0004g0089	2	334	0.0060	18	c.610 others(35): Show c.610-1165_610-1164insTTTTTTTTTTTTTTTTTT	MMADHC	ENSG00000168288.13	transcript	ENST00000303319.10	protein_coding	6/7			chr2	TogoVar
MMD2_chr7_4900998_4964187	4945184	C C	CCTTCTTC others(11): Show CCTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG02258.hp1 others(4): Show HG01069.hp2 HG01071.hp2 HG02258.hp1 HG02717.hp1 HG03654.hp1 NA18995.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003	a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0002t0001g0165 others(4): Show a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0002t0001g0165 a0001c0002t0001g0233 a0001c0002t0001g0235 a0001c0002t0002g0155 a0001c0002t0003g0170	7	382	0.0183	18	c.47+ others(35): Show c.47+13786_47+13787insAAGAAGAAGAAGAAGAAG	MMD2	ENSG00000136297.15	transcript	ENST00000401401.8	protein_coding	1/6			chr7	TogoVar
MMD2_chr7_4900998_4964187	4945185	T T	TTTCTTCT others(11): Show TTTCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp2 HG00621.hp2 others(34): Show HG00280.hp1 HG00423.hp2 HG00621.hp2 HG00642.hp2 HG00735.hp1 HG00741.hp1 HG01099.hp2 HG01256.hp2 HG02109.hp2 HG02145.hp2 HG02451.hp2 HG02698.hp2 HG02723.hp1 HG02922.hp2 HG03130.hp2 HG03139.hp2 HG03239.hp2 HG03540.hp2 HG03654.hp2 HG03710.hp2 HG04199.hp1 HG06807.hp2 NA18747.hp1 NA18956.hp2 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18993.hp1 NA18993.hp2 NA19010.hp2 NA19030.hp2 NA19056.hp1 NA19058.hp2 NA19067.hp2 NA19074.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0020 a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 a0001c0002t0008 a0001c0003t0004	a0001c0001t0001g0052 a0001c0001t0001g0177 a0001c0001t0001g0193 others(34): Show a0001c0001t0001g0052 a0001c0001t0001g0177 a0001c0001t0001g0193 a0001c0001t0001g0268 a0001c0001t0002g0026 a0001c0001t0002g0028 a0001c0001t0002g0048 a0001c0001t0002g0082 a0001c0001t0002g0090 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0258 a0001c0001t0002g0291 a0001c0001t0003g0035 a0001c0001t0003g0049 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0204 a0001c0001t0003g0327 a0001c0001t0020g0345 a0001c0002t0001g0117 a0001c0002t0001g0127 a0001c0002t0001g0188 a0001c0002t0001g0192 a0001c0002t0001g0210 a0001c0002t0001g0216 a0001c0002t0003g0140 a0001c0002t0003g0186 a0001c0002t0006g0346 a0001c0002t0006g0348 a0001c0002t0006g0359 a0001c0002t0006g0361 a0001c0002t0008g0368 a0001c0002t0008g0369 a0001c0003t0004g0296 a0001c0003t0004g0297 a0001c0003t0004g0317	37	382	0.0969	18	c.47+ others(35): Show c.47+13768_47+13785dupGAAGAAGAAGAAGAAGAA	MMD2	ENSG00000136297.15	transcript	ENST00000401401.8	protein_coding	1/6			chr7	TogoVar
MMD2_chr7_4900998_4964187	4963162	T T	TCTTCCTG others(11): Show TCTTCCTGGCCCCAGCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0043 a0001c0001t0003g0043	1	382	0.0026	18	c.-41 others(29): Show c.-4146_-4145insCAGGCTGGGGCCAGGAAG	MMD2	ENSG00000136297.15	transcript	ENST00000401401.8	protein_coding		3976		chr7	TogoVar
MME_chr3_155075319_155188704	155133058	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01261.hp2 HG01346.hp2 others(3): Show HG00733.hp2 HG01261.hp2 HG01346.hp2 HG03017.hp2 HG06807.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 others(3): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0033 a0001c0001t0042 a0001c0004t0002	a0001c0001t0005g0052 a0001c0001t0007g0250 a0001c0001t0008g0062 others(3): Show a0001c0001t0005g0052 a0001c0001t0007g0250 a0001c0001t0008g0062 a0001c0001t0033g0035 a0001c0001t0042g0249 a0001c0004t0002g0223	6	336	0.0179	18	c.721 others(35): Show c.721-5043_721-5042insTATATATATATATATATA	MME	ENSG00000196549.13	transcript	ENST00000360490.7	protein_coding	8/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
MME_chr3_155075319_155188704	155133060	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp2 NA18954.hp2 NA18993.hp2 HG01192.hp2 NA18954.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0026 a0001c0001t0003 a0001c0001t0026	a0001c0001t0003g0166 a0001c0001t0026g0068 a0001c0001t0026g0069 a0001c0001t0003g0166 a0001c0001t0026g0068 a0001c0001t0026g0069	3	336	0.0089	18	c.721 others(35): Show c.721-5041_721-5040insTATATATATATATATATA	MME	ENSG00000196549.13	transcript	ENST00000360490.7	protein_coding	8/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
MMP16_chr8_88027011_88332483	88075938	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 NA18943.hp1 NA19085.hp2 others(1): Show HG00280.hp1 NA18943.hp1 NA19085.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0022 a0001c0001t0003 a0001c0001t0004 a0001c0001t0022	a0001c0001t0003g0038 a0001c0001t0004g0089 a0001c0001t0004g0169 others(1): Show a0001c0001t0003g0038 a0001c0001t0004g0089 a0001c0001t0004g0169 a0001c0001t0022g0128	4	186	0.0215	18	c.108 others(37): Show c.1084-1213_1084-1196dupGTGTGTGTGTGTGTGTGT	MMP16	ENSG00000156103.16	transcript	ENST00000286614.11	protein_coding	6/9			chr8	TogoVar
MMP16_chr8_88027011_88332483	88088089	T T	TAATAGAT others(11): Show TAATAGATATCTATATATC	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01358.hp1 HG01515.hp1 HG01071.hp1 HG01358.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0079 a0001c0001t0003g0060 a0001c0001t0003g0138 a0001c0001t0001g0079 a0001c0001t0003g0060 a0001c0001t0003g0138	3	186	0.0161	18	c.108 others(39): Show c.1084-13347_1084-13346insGATATATAGATATCTATT	MMP16	ENSG00000156103.16	transcript	ENST00000286614.11	protein_coding	6/9			chr8	TogoVar
MMP16_chr8_88027011_88332483	88112666	G G	GGGGTGTG others(11): Show GGGGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01975.hp2 HG02056.hp1 others(29): Show HG00280.hp2 HG01975.hp2 HG02056.hp1 HG02080.hp1 HG02083.hp1 HG02155.hp2 HG02280.hp1 HG02559.hp2 HG02622.hp2 HG02717.hp2 HG02922.hp2 HG02970.hp1 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03486.hp2 HG03516.hp2 HG03579.hp1 HG03669.hp1 HG03942.hp1 HG06807.hp1 NA18747.hp1 NA18906.hp2 NA18943.hp2 NA18983.hp1 NA18991.hp1 NA19043.hp2 NA19063.hp2 NA19085.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0026 a0001c0001t0027 a0001c0001t0030 a0001c0001t0032 a0001c0001t0037 a0001c0002t0031 a0001c0004t0011 a0001c0007t0051 a0002c0006t0001	a0001c0001t0001g0002 a0001c0001t0001g0098 a0001c0001t0002g0020 others(29): Show a0001c0001t0001g0002 a0001c0001t0001g0098 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0061 a0001c0001t0002g0070 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0118 a0001c0001t0003g0022 a0001c0001t0003g0071 a0001c0001t0005g0025 a0001c0001t0006g0093 a0001c0001t0006g0097 a0001c0001t0006g0124 a0001c0001t0007g0051 a0001c0001t0007g0141 a0001c0001t0009g0037 a0001c0001t0009g0096 a0001c0001t0009g0099 a0001c0001t0011g0057 a0001c0001t0011g0058 a0001c0001t0012g0121 a0001c0001t0026g0158 a0001c0001t0027g0064 a0001c0001t0030g0111 a0001c0001t0032g0015 a0001c0001t0037g0029 a0001c0002t0031g0084 a0001c0004t0011g0049 a0001c0007t0051g0018 a0002c0006t0001g0161	32	186	0.1720	18	c.108 others(37): Show c.1083+3840_1083+3841insACACACACACACACACCC	MMP16	ENSG00000156103.16	transcript	ENST00000286614.11	protein_coding	6/9			chr8	TogoVar
MMP16_chr8_88027011_88332483	88112666	G G	GGGTTGTG others(11): Show GGGTTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0062 a0001c0001t0004g0062	1	186	0.0054	18	c.108 others(37): Show c.1083+3840_1083+3841insACACACACACACACAACC	MMP16	ENSG00000156103.16	transcript	ENST00000286614.11	protein_coding	6/9			chr8	TogoVar
MMP16_chr8_88027011_88332483	88112666	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02055.hp2 HG02559.hp1 others(7): Show HG01106.hp1 HG02055.hp2 HG02559.hp1 HG02615.hp2 HG02818.hp2 HG03225.hp1 HG03491.hp1 HG06807.hp2 NA18939.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0014 a0001c0001t0025 a0001c0001t0044 a0001c0002t0002	a0001c0001t0001g0148 a0001c0001t0002g0041 a0001c0001t0002g0122 others(7): Show a0001c0001t0001g0148 a0001c0001t0002g0041 a0001c0001t0002g0122 a0001c0001t0002g0177 a0001c0001t0004g0142 a0001c0001t0006g0112 a0001c0001t0014g0101 a0001c0001t0025g0053 a0001c0001t0044g0149 a0001c0002t0002g0176	10	186	0.0538	18	c.108 others(37): Show c.1083+3823_1083+3840dupACACACACACACACACAC	MMP16	ENSG00000156103.16	transcript	ENST00000286614.11	protein_coding	6/9			chr8	TogoVar
MMP16_chr8_88027011_88332483	88112675	G G	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTGTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00438.hp2 others(16): Show HG00099.hp1 HG00280.hp1 HG00438.hp2 HG02015.hp2 HG02055.hp1 HG02129.hp2 HG02155.hp1 HG02809.hp1 HG02976.hp2 HG03486.hp1 NA18747.hp2 NA18939.hp1 NA18948.hp1 NA18952.hp2 NA18999.hp2 NA19010.hp1 NA19063.hp1 NA19085.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0015 a0001c0001t0016 a0001c0001t0022 a0001c0001t0029 a0001c0001t0038 a0001c0001t0047	a0001c0001t0001g0048 a0001c0001t0001g0130 a0001c0001t0002g0010 others(16): Show a0001c0001t0001g0048 a0001c0001t0001g0130 a0001c0001t0002g0010 a0001c0001t0002g0043 a0001c0001t0002g0100 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0004g0092 a0001c0001t0004g0169 a0001c0001t0005g0023 a0001c0001t0008g0030 a0001c0001t0008g0090 a0001c0001t0010g0040 a0001c0001t0015g0168 a0001c0001t0016g0131 a0001c0001t0022g0128 a0001c0001t0029g0110 a0001c0001t0038g0047 a0001c0001t0047g0120	19	186	0.1022	18	c.108 others(37): Show c.1083+3831_1083+3832insGACACACACACACACACA	MMP16	ENSG00000156103.16	transcript	ENST00000286614.11	protein_coding	6/9			chr8	TogoVar
MMP16_chr8_88027011_88332483	88184746	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0149 a0001c0001t0044g0149	1	186	0.0054	18	c.404 others(35): Show c.404+1712_404+1729dupTTTTTTTTTTTTTTTTTT	MMP16	ENSG00000156103.16	transcript	ENST00000286614.11	protein_coding	3/9			chr8	TogoVar
MMP16_chr8_88027011_88332483	88265223	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01358.hp1 HG02895.hp2 others(4): Show HG01106.hp2 HG01358.hp1 HG02895.hp2 HG03139.hp1 HG03491.hp2 HG04115.hp1 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0044	a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0002g0184 others(4): Show a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0002g0184 a0001c0001t0003g0076 a0001c0001t0003g0078 a0001c0001t0005g0182 a0001c0001t0044g0149	7	186	0.0376	18	c.132 others(37): Show c.132+61834_132+61851dupAAAAAAAAAAAAAAAAAA	MMP16	ENSG00000156103.16	transcript	ENST00000286614.11	protein_coding	1/9			chr8	TogoVar
MMP17_chr12_131823393_131856771	131827353	C C	CGGGGGGG others(11): Show CGGGGGGGGGGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp1 NA18977.hp2 NA18943.hp1 NA18977.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0197 a0002c0002t0002g0204 a0002c0002t0001g0197 a0002c0002t0002g0204	2	398	0.0050	18	c.-11 others(29): Show c.-1142_-1141insGGGGGGGGGGGGGGGGGG	MMP17	ENSG00000198598.7	transcript	ENST00000360564.5	protein_coding		1039		chr12	TogoVar

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