Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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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
MED12L_chr3_151080664_151441653	151368629	TATTTCAT others(63): Show TATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATGT CATTTCATTTTATTTCATTTC	T T	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG03225.hp1 HG03486.hp1 others(4): Show HG02300.hp2 HG03225.hp1 HG03486.hp1 NA18972.hp1 NA19066.hp2 NA19076.hp2 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0001c0033 a0002c0003 others(1): Show a0001c0004 a0001c0033 a0002c0003 a0002c0037	a0001c0004t0001 a0001c0004t0002 a0001c0033t0018 others(2): Show a0001c0004t0001 a0001c0004t0002 a0001c0033t0018 a0002c0003t0004 a0002c0037t0020	a0001c0004t0001g0256 a0001c0004t0001g0257 a0001c0004t0002g0239 others(4): Show a0001c0004t0001g0256 a0001c0004t0001g0257 a0001c0004t0002g0239 a0001c0004t0002g0260 a0001c0033t0018g0170 a0002c0003t0004g0226 a0002c0037t0020g0173	7	280	0.0250	-70	c.355 others(87): Show c.3550+426_3550+495delGTCATTTCATTTTATTTCATTTCATTTC ATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCAT	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	25/44		INFO_REALIGN_3_PRIME	chr3	TogoVar
MEGF6_chr1_3482951_3616508	3546864	AGGGTGGC others(63): Show AGGGTGGCAGTGGGCTGGGAAGGGGGCTGCCAGGCGGGGTGGCAGTGGGC TGGGAAGGGGGCTGCCAGGCG	A A	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG02055.hp1 HG01256.hp2 HG02055.hp1	a0008 a0008	a0008c0038 a0008c0038	a0008c0038t0001 a0008c0038t0001	a0008c0038t0001g0013 a0008c0038t0001g0072 a0008c0038t0001g0013 a0008c0038t0001g0072	2	292	0.0069	-70	c.482 others(89): Show c.482-22688_482-22619delCGCCTGGCAGCCCCCTTCCCAGCCCA CTGCCACCCCGCCTGGCAGCCCCCTTCCCAGCCCACTGCCACCC	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	4/36			chr1	TogoVar
MEP1A_chr6_46788389_46844778	46824595	ATTAAATA others(63): Show ATTAAATAGATGTATTTAAATATATATAAATTATATATTTAAATAAATGT ATTTAAATTTATATAATGTAT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02965.hp1 HG03540.hp1 HG02622.hp2 HG02965.hp1 HG03540.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0003 a0004c0004t0003g0004 a0004c0004t0003g0005 a0004c0004t0003g0003 a0004c0004t0003g0004 a0004c0004t0003g0005	3	352	0.0085	-70	c.557 others(85): Show c.557-643_557-574delATATTTAAATAAATGTATTTAAATTTATAT AATGTATTTAAATAGATGTATTTAAATATATATAAATTAT	MEP1A	ENSG00000112818.11	transcript	ENST00000230588.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
MESP1_chr15_89744875_89756249	89745836	CAGCATCC others(63): Show CAGCATCCACACCTCCTTTCCTCCCCACAGGATCCACACACCAACACCTC CACACATCCACACCTCCAAAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0003 a0003c0003t0001g0003	1	428	0.0023	-70	c.42 others(81): Show c.4238_*4307delCTTTGGAGGTGTGGATGTGTGGAGGTGTTGGTGT GTGGATCCTGTGGGGAGGAAAGGAGGTGTGGATGCT	MESP1	ENSG00000166823.6	transcript	ENST00000300057.5	protein_coding		4038		chr15	TogoVar
MESP1_chr15_89744875_89756249	89745861	CACAGGAT others(63): Show CACAGGATCCACACACCAACACCTCCACACATCCACACCTCCAAAGAGCA TCCACACCTCCACTCCTCCCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(106): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00544.hp1 HG00609.hp1 HG00733.hp2 HG00738.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01106.hp1 HG01192.hp2 HG01243.hp1 HG01261.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp2 HG01884.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01993.hp2 HG02071.hp1 HG02155.hp1 HG02258.hp1 HG02258.hp2 HG02451.hp2 HG02572.hp1 HG02602.hp2 HG02630.hp1 HG02647.hp1 HG02738.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG03041.hp1 HG03130.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp2 HG03490.hp2 HG03491.hp2 HG03516.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG04228.hp2 NA18612.hp2 NA18747.hp1 NA18940.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp2 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp1 NA18956.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp2 NA18973.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18981.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp2 NA18993.hp2 NA18994.hp2 NA18998.hp1 NA19003.hp2 NA19005.hp1 NA19010.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19062.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19070.hp2 NA19078.hp2 NA19079.hp2 NA19085.hp2 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20905.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0007 a0009 a0012 a0013	a0001c0001 a0001c0007 a0002c0002 others(11): Show a0001c0001 a0001c0007 a0002c0002 a0003c0003 a0003c0005 a0003c0028 a0004c0004 a0004c0008 a0005c0009 a0007c0013 a0007c0022 a0009c0017 a0012c0015 a0013c0034	a0001c0001t0001 a0001c0007t0001 a0002c0002t0001 others(12): Show a0001c0001t0001 a0001c0007t0001 a0002c0002t0001 a0002c0002t0004 a0003c0003t0001 a0003c0005t0001 a0003c0028t0001 a0004c0004t0001 a0004c0008t0001 a0005c0009t0001 a0007c0013t0001 a0007c0022t0001 a0009c0017t0001 a0012c0015t0001 a0013c0034t0001	a0001c0001t0001g0001 a0001c0007t0001g0042 a0002c0002t0001g0002 others(16): Show a0001c0001t0001g0001 a0001c0007t0001g0042 a0002c0002t0001g0002 a0002c0002t0001g0008 a0002c0002t0004g0027 a0003c0003t0001g0003 a0003c0005t0001g0005 a0003c0005t0001g0034 a0003c0028t0001g0036 a0004c0004t0001g0004 a0004c0004t0001g0033 a0004c0008t0001g0013 a0004c0008t0001g0016 a0005c0009t0001g0009 a0007c0013t0001g0015 a0007c0022t0001g0028 a0009c0017t0001g0019 a0012c0015t0001g0023 a0013c0034t0001g0045	109	428	0.2547	-70	c.42 others(81): Show c.4213_*4282delTGGGAGGAGTGGAGGTGTGGATGCTCTTTGGAGG TGTGGATGTGTGGAGGTGTTGGTGTGTGGATCCTGT	MESP1	ENSG00000166823.6	transcript	ENST00000300057.5	protein_coding		4013		chr15	TogoVar
METRNL_chr17_83074609_83100122	83090228	CCACACAC others(63): Show CCACACACACCCCCGCCCTGCCCCAGGGTGGGAGCCACACACACCCCCGC CCTGCCCCAGGGTGGGAGCCA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02132.hp2 HG00438.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0117 a0001c0001t0002g0331 a0001c0001t0002g0117 a0001c0001t0002g0331	2	399	0.0050	-70	c.557 others(87): Show c.557-2931_557-2862delACCCCCGCCCTGCCCCAGGGTGGGAGCC ACACACACCCCCGCCCTGCCCCAGGGTGGGAGCCACACACAC	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
MFSD8_chr4_127912805_127970173	127943279	AGCAAGTG others(63): Show AGCAAGTGCCAGAGACATGTCAGAGAAGAAAAAAATCTCTCAAGGGGCAG GGTAGCCCAAGATGGCTTTGT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	354	0.0028	-70	c.439 others(85): Show c.439+403_439+472delACAAAGCCATCTTGGGCTACCCTGCCCCTT GAGAGATTTTTTTCTTCTCTGACATGTCTCTGGCACTTGC	MFSD8	ENSG00000164073.11	transcript	ENST00000641686.2	protein_coding	4/11			chr4	TogoVar
MIA2_chr14_39228915_39355694	39277678	ATATATAT others(63): Show ATATATATATGTGTGTATATATATATATATATATATATGTGTGTATATAT ATATATATATATATATGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG01081.hp1 others(16): Show HG00140.hp1 HG00408.hp1 HG01081.hp1 HG01346.hp2 HG01516.hp1 HG01934.hp2 HG01975.hp1 HG02280.hp2 HG03130.hp2 HG03490.hp1 NA18612.hp2 NA18939.hp2 NA18948.hp2 NA18982.hp2 NA18990.hp1 NA18991.hp1 NA19000.hp1 NA19012.hp1 NA20129.hp1	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0023	a0001c0003 a0001c0044 a0003c0004 others(3): Show a0001c0003 a0001c0044 a0003c0004 a0003c0012 a0006c0005 a0023c0029	a0001c0003t0001 a0001c0044t0002 a0003c0004t0001 others(3): Show a0001c0003t0001 a0001c0044t0002 a0003c0004t0001 a0003c0012t0001 a0006c0005t0002 a0023c0029t0001	a0001c0003t0001g0267 a0001c0003t0001g0275 a0001c0003t0001g0280 others(16): Show a0001c0003t0001g0267 a0001c0003t0001g0275 a0001c0003t0001g0280 a0001c0003t0001g0281 a0001c0003t0001g0297 a0001c0003t0001g0317 a0001c0003t0001g0322 a0001c0003t0001g0324 a0001c0003t0001g0330 a0001c0044t0002g0123 a0003c0004t0001g0279 a0003c0004t0001g0284 a0003c0004t0001g0295 a0003c0004t0001g0296 a0003c0004t0001g0325 a0003c0004t0001g0333 a0003c0012t0001g0153 a0006c0005t0002g0254 a0023c0029t0001g0298	19	368	0.0516	-70	c.201 others(87): Show c.2019+623_2019+692delGTGTGTATATATATATATATATATATAT GTGTGTATATATATATATATATATATATGTGTGTATATATAT	MIA2	ENSG00000150527.18	transcript	ENST00000640607.2	protein_coding	7/28		INFO_REALIGN_3_PRIME	chr14	TogoVar
MIDN_chr19_1243583_1264143	1246381	CCCATTCC others(63): Show CCCATTCCACTCCCGACCAGACTGAGGTGATGGTGTCCATTCCACTCCCG ACCAGACTGAGGTGACGGTGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG03516.hp2 HG02258.hp1 HG03516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0004 a0001c0003t0004g0047 a0001c0003t0004g0004 a0001c0003t0004g0047	2	418	0.0048	-70	c.-26 others(81): Show c.-2686_-2617delCCATTCCACTCCCGACCAGACTGAGGTGATGGTG TCCATTCCACTCCCGACCAGACTGAGGTGACGGTGT	MIDN	ENSG00000167470.14	transcript	ENST00000682408.1	protein_coding		2201		chr19	TogoVar
MIDN_chr19_1243583_1264143	1246411	TGGTGTCC others(63): Show TGGTGTCCATTCCACTCCCGACCAGACTGAGGTGACGGTGTCCATTCCAC TCCCGACCAGACTGAGGTGAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02723.hp1 HG02622.hp2 HG02723.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0037 a0001c0003t0076 a0001c0003t0037 a0001c0003t0076	a0001c0003t0037g0103 a0001c0003t0076g0032 a0001c0003t0037g0103 a0001c0003t0076g0032	2	418	0.0048	-70	c.-26 others(81): Show c.-2656_-2587delGGTGTCCATTCCACTCCCGACCAGACTGAGGTGA CGGTGTCCATTCCACTCCCGACCAGACTGAGGTGAC	MIDN	ENSG00000167470.14	transcript	ENST00000682408.1	protein_coding		2171		chr19	TogoVar
MLPH_chr2_237482251_237560322	237543560	TGGGCACG others(63): Show TGGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTGGGAGGACAGTGGTG AGTGGGGGACAGTAGTGAGTG	T T	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0022 a0022	a0022c0027 a0022c0027	a0022c0027t0001 a0022c0027t0001	a0022c0027t0001g0175 a0022c0027t0001g0175	1	286	0.0035	-70	c.153 others(87): Show c.1539+905_1539+974delCACGGTAGTGAGTGGGGGGACAGTGGTG AGTGGGAGGACAGTGGTGAGTGGGGGACAGTAGTGAGTGGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543662	TGGGGGCA others(63): Show TGGGGGCACGGTAGTGACTGGGGCGACAGTGGTGAGTGGGGGGACAGTGG TGAGTGGGGGACAGTGGTGAG	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02896.hp1 HG02145.hp1 HG02896.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0005 a0003c0003t0001 a0003c0003t0005	a0003c0003t0001g0267 a0003c0003t0005g0266 a0003c0003t0001g0267 a0003c0003t0005g0266	2	286	0.0070	-70	c.153 others(89): Show c.1539+1004_1539+1073delGGGGGCACGGTAGTGACTGGGGCGAC AGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15			chr2	TogoVar
MLPH_chr2_237482251_237560322	237543663	GGGGGCAC others(63): Show GGGGGCACGGTAGTGACTGGGGCGACAGTGGTGAGTGGGGGGACAGTGGT GAGTGGGGGACAGTGGTGAGT	G G	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0053 a0002c0002t0001g0053	1	286	0.0035	-70	c.153 others(89): Show c.1539+1009_1539+1078delCACGGTAGTGACTGGGGCGACAGTGG TGAGTGGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543718	GGGGACAG others(63): Show GGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGCACGGTAGTGAGTG GGGGGACAGTGGTGAGTGGGA	G G	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0002 a0002	a0002c0049 a0002c0049	a0002c0049t0002 a0002c0049t0002	a0002c0049t0002g0060 a0002c0049t0002g0060	1	286	0.0035	-70	c.153 others(89): Show c.1539+1062_1539+1131delGACAGTGGTGAGTGGGGGACAGTGGT GAGTGGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTGGGAGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237544787	TGGGGACA others(63): Show TGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGGACAGTGTGT GGGGGGACAGTGGTGAGTTGG	T T	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0010 a0010	a0010c0016 a0010c0016	a0010c0016t0001 a0010c0016t0001	a0010c0016t0001g0079 a0010c0016t0001g0079	1	286	0.0035	-70	c.154 others(89): Show c.1540-1798_1540-1729delGGACAGTGGTGAGTGGGGGGACAGTG TGTGGGGGGACAGTGGTGAGTTGGGGGGACAGTGGTGAGTGGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MMP20_chr11_102571832_102630332	102588795	TCAGTTTT others(63): Show TCAGTTTTTGTTTCTCTGGGAATGTCTTTATTTCTCCTTCATTTTTGAAA GATAACTCTAGTGGATATAAG	T T	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0289 a0001c0001t0001g0289	1	446	0.0022	-70	c.124 others(89): Show c.1247+4574_1247+4643delCTTATATCCACTAGAGTTATCTTTCA AAAATGAAGGAGAAATAAAGACATTCCCAGAGAAACAAAAACTG	MMP20	ENSG00000137674.4	transcript	ENST00000260228.3	protein_coding	8/9			chr11	TogoVar
MOXD1_chr6_132291055_132406475	132349382	TATATATA others(63): Show TATATATATATACACATATATATACATATATATATATATACATATATATA TATACATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	318	0.0031	-70	c.664 others(89): Show c.664-20858_664-20789delGTATATATATATATATGTATATATAT ATATGTATATATATATATATGTATATATATGTGTATATATATAT	MOXD1	ENSG00000079931.15	transcript	ENST00000367963.8	protein_coding	4/11			chr6	TogoVar
MRAP2_chr6_84028772_84095881	84092057	GTTTTCTT others(63): Show GTTTTCTTGCCTTTTCTATCTTCCAGGGGTTGCTCCCACTCTGTGGCTCC TCTTCTTCCACTTTACATCTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0069 a0001c0003t0002g0069	1	272	0.0037	-70	c.25 others(81): Show c.2577_*2646delTTTTCTTGCCTTTTCTATCTTCCAGGGGTTGCTC CCACTCTGTGGCTCCTCTTCTTCCACTTTACATCTC	MRAP2	ENSG00000135324.6	transcript	ENST00000257776.5	protein_coding		1177		chr6	TogoVar
MRGPRE_chr11_3220030_3237417	3233746	TTTGTCCC others(63): Show TTTGTCCCACTCCTTCCAATTGTCCCACTCTTCCATTTGTCCCACTCCTT CCAATTGTCCCACTCTTCCAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00423.hp2 others(104): Show HG00280.hp1 HG00408.hp1 HG00423.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG01069.hp2 HG01071.hp2 HG01106.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01358.hp1 HG01884.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02040.hp1 HG02109.hp2 HG02132.hp1 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02523.hp1 HG02615.hp1 HG02630.hp2 HG02647.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03017.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04199.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18943.hp2 NA18952.hp2 NA18956.hp1 NA18964.hp1 NA18965.hp2 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp2 NA18980.hp1 NA18994.hp2 NA19002.hp1 NA19003.hp2 NA19010.hp1 NA19030.hp1 NA19043.hp2 NA19056.hp1 NA19058.hp2 NA19068.hp1 NA19072.hp1 NA19078.hp1 NA19082.hp2 NA19083.hp1 NA19087.hp2 NA19088.hp1	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0005 a0006 a0007	a0001c0001 a0001c0003 a0001c0021 others(6): Show a0001c0001 a0001c0003 a0001c0021 a0003c0004 a0004c0005 a0005c0020 a0006c0008 a0006c0010 a0007c0022	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(29): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0027 a0001c0001t0043 a0001c0001t0065 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0006 a0001c0003t0008 a0001c0003t0012 a0001c0003t0013 a0001c0003t0028 a0001c0003t0033 a0001c0003t0035 a0001c0003t0046 a0001c0003t0047 a0001c0003t0049 a0001c0003t0059 a0001c0021t0002 a0003c0004t0001 a0004c0005t0002 a0004c0005t0003 a0004c0005t0031 a0004c0005t0045 a0005c0020t0048 a0006c0008t0006 a0006c0010t0025 a0007c0022t0002	a0001c0001t0001g0007 a0001c0001t0004g0157 a0001c0001t0004g0159 others(40): Show a0001c0001t0001g0007 a0001c0001t0004g0157 a0001c0001t0004g0159 a0001c0001t0006g0015 a0001c0001t0006g0038 a0001c0001t0006g0072 a0001c0001t0006g0074 a0001c0001t0008g0061 a0001c0001t0009g0057 a0001c0001t0027g0158 a0001c0001t0043g0090 a0001c0001t0065g0160 a0001c0003t0002g0003 a0001c0003t0002g0056 a0001c0003t0002g0156 a0001c0003t0003g0019 a0001c0003t0003g0166 a0001c0003t0004g0059 a0001c0003t0006g0027 a0001c0003t0006g0075 a0001c0003t0008g0014 a0001c0003t0012g0020 a0001c0003t0012g0077 a0001c0003t0013g0025 a0001c0003t0013g0026 a0001c0003t0028g0058 a0001c0003t0033g0173 a0001c0003t0035g0063 a0001c0003t0046g0162 a0001c0003t0047g0163 a0001c0003t0049g0164 a0001c0003t0059g0165 a0001c0021t0002g0169 a0003c0004t0001g0002 a0004c0005t0002g0009 a0004c0005t0002g0172 a0004c0005t0003g0060 a0004c0005t0031g0168 a0004c0005t0045g0167 a0005c0020t0048g0161 a0006c0008t0006g0073 a0006c0010t0025g0076 a0007c0022t0002g0170	107	452	0.2367	-70	c.-17 others(81): Show c.-1737_-1668delTTGGAAGAGTGGGACAATTGGAAGGAGTGGGACA AATGGAAGAGTGGGACAATTGGAAGGAGTGGGACAA	MRGPRE	ENSG00000184350.11	transcript	ENST00000389832.7	protein_coding		1330		chr11	TogoVar
MROH2A_chr2_233773330_233838418	233787636	TATTATAT others(63): Show TATTATATATATCATATATACATATATATTATATATATTATATATACATA TATATTATATATATCATATAA	T T	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0020 a0002c0020	a0002c0020t0001 a0002c0020t0001	a0002c0020t0001g0310 a0002c0020t0001g0310	1	378	0.0027	-70	c.277 others(87): Show c.277-1859_277-1790delTTATATATATCATATATACATATATATT ATATATATTATATATACATATATATTATATATATCATATAAA	MROH2A	ENSG00000185038.15	transcript	ENST00000389758.4	protein_coding	3/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
MRPL45_chr17_38292168_38328211	38313315	TATATATA others(63): Show TATATATATATATATATACATATATATATATACGTATATATATATATATA TACGTATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02615.hp2 HG02630.hp2 others(4): Show HG02486.hp2 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02895.hp2 HG02976.hp2 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0068 a0002c0002t0001g0004 a0002c0002t0001g0210 others(2): Show a0001c0001t0001g0068 a0002c0002t0001g0004 a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0001g0212	7	287	0.0244	-70	c.462 others(87): Show c.462-5354_462-5285delCATATATATATATACGTATATATATATA TATATACGTATATATATATATATACATATATATATATATATA	MRPL45	ENSG00000278845.5	transcript	ENST00000613675.5	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr17	TogoVar
MSH3_chr5_80649652_80881815	80693049	TTATATAG others(63): Show TTATATAGATAAATATACATGCACATGTATATGTTTATATAGATAAATAT ACATGCACATGTATGTTTATA	T T	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00609.hp2 HG00621.hp1 others(5): Show HG00597.hp1 HG00609.hp2 HG00621.hp1 HG02083.hp2 HG02135.hp1 NA18747.hp1 NA18946.hp1 NA19064.hp1	a0003 a0023 a0003 a0023	a0003c0004 a0023c0043 a0003c0004 a0023c0043	a0003c0004t0004 a0023c0043t0004 a0003c0004t0004 a0023c0043t0004	a0003c0004t0004g0233 a0003c0004t0004g0234 a0003c0004t0004g0250 others(5): Show a0003c0004t0004g0233 a0003c0004t0004g0234 a0003c0004t0004g0250 a0003c0004t0004g0251 a0003c0004t0004g0252 a0003c0004t0004g0264 a0003c0004t0004g0278 a0023c0043t0004g0232	8	362	0.0221	-70	c.134 others(91): Show c.1340+13959_1340+14028delTATAGATAAATATACATGCACATG TATATGTTTATATAGATAAATATACATGCACATGTATGTTTATATA	MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
MTA1_chr14_105414827_105475729	105437232	CGGGCGTG others(63): Show CGGGCGTGTGCCTGCAGGTGTGTCCTCACGGGTGTGTCCTCATGGGCATG TGCCTGCAGGTGCGTCCTCAT	C C	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	304	0.0033	-70	c.29- others(85): Show c.29-1420_29-1351delTGTCCTCACGGGTGTGTCCTCATGGGCATG TGCCTGCAGGTGCGTCCTCATGGGCGTGTGCCTGCAGGTG	MTA1	ENSG00000182979.18	transcript	ENST00000331320.12	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
MTM1_chrX_150563621_150678143	150583375	TTATATAT others(63): Show TTATATATAATATAATATATATAAATTATATATATTATATTATATATAAT TATAAATATATAAAAATTATA	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00741.hp1 HG02145.hp1 others(8): Show HG00738.hp1 HG00741.hp1 HG02145.hp1 HG02280.hp2 HG02809.hp2 HG03654.hp1 HG03669.hp1 HG04204.hp1 HG06807.hp1 NA18954.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0027 others(6): Show a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0027 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0071 a0001c0001t0001g0085 a0001c0001t0001g0116 a0001c0001t0001g0119	11	277	0.0397	-70	c.-10 others(87): Show c.-10-9224_-10-9155delATAATATAATATATATAAATTATATATA TTATATTATATATAATTATAAATATATAAAAATTATATATAT	MTM1	ENSG00000171100.16	transcript	ENST00000370396.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chrX	TogoVar
MUC5AC_chr11_1152953_1206138	1166214	AGATGAGA others(63): Show AGATGAGACCCTGCACCCAACACACAGTCTCCCTATGGTGAGACCCTGCA CCCAACATACAGTCTCTGCAC	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0014 a0014	a0014c0031 a0014c0031	a0014c0031t0001 a0014c0031t0001	a0014c0031t0001g0075 a0014c0031t0001g0075	1	292	0.0034	-70	c.138 others(87): Show c.1386+487_1386+556delTATGGTGAGACCCTGCACCCAACATACA GTCTCTGCACGATGAGACCCTGCACCCAACACACAGTCTCCC	MUC5AC	ENSG00000215182.8	transcript	ENST00000621226.2	protein_coding	11/48		INFO_REALIGN_3_PRIME	chr11	TogoVar
MUSK_chr9_110663791_110811558	110701675	ATTTTTTT others(63): Show ATTTTTTTTACTTTACTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTAT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0028 a0001c0001t0003g0028	1	326	0.0031	-70	c.628 others(87): Show c.628+4213_628+4282delTTTTTACTTTACTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MYDGF_chr19_4652545_4675342	4672032	TATATATT others(63): Show TATATATTCATATATTCACATATGTGAATATATATTCATATATTCATATA TACTTATATATTCATATATTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0092 a0002c0002t0002g0092	1	410	0.0024	-70	c.-17 others(81): Show c.-1768_-1699delGAATATATGAATATATAAGTATATATGAATATAT GAATATATATTCACATATGTGAATATATGAATATAT	MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding		1691		chr19	TogoVar
MYDGF_chr19_4652545_4675342	4672060	TATATATT others(63): Show TATATATTCATATATTCATATATACTTATATATTCATATATTCATATATA CTTATATATTCATATATATGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG01109.hp1 HG02129.hp2 others(4): Show HG00558.hp2 HG01109.hp1 HG02129.hp2 NA18944.hp2 NA18957.hp1 NA18963.hp1 NA19007.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0010 a0002c0002t0002 a0001c0001t0001 a0001c0001t0010 a0002c0002t0002	a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0273 others(4): Show a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0304 a0001c0001t0010g0269 a0002c0002t0002g0095	7	410	0.0171	-70	c.-17 others(81): Show c.-1796_-1727delTCATATATATGAATATATAAGTATATATGAATAT ATGAATATATAAGTATATATGAATATATGAATATAT	MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding		1719		chr19	TogoVar
MYO10_chr5_16656907_16941288	16912876	GCCTCCAG others(63): Show GCCTCCAGCAAGTCAGGCTTTTTCTCTTAGTTTGGGATGATTCCTAAGCT ACAGGCATGCTTTCTGGCCAC	G G	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0043 a0001c0043	a0001c0043t0090 a0001c0043t0090	a0001c0043t0090g0142 a0001c0043t0090g0142	1	272	0.0037	-70	c.21+ others(87): Show c.21+22842_21+22911delGTGGCCAGAAAGCATGCCTGTAGCTTAG GAATCATCCCAAACTAAGAGAAAAAGCCTGACTTGCTGGAGG	MYO10	ENSG00000145555.15	transcript	ENST00000513610.6	protein_coding	1/40			chr5	TogoVar
MYO7A_chr11_77123246_77220241	77197581	AAGCCTAC others(63): Show AAGCCTACAAATTCTCAGGTACCCCGCAGCCTGCAATGCTCCCAGTCCCT TGCTCTGTAGCTCCAGCCCAC	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03516.hp2 HG02647.hp2 HG03516.hp2	a0005 a0039 a0005 a0039	a0005c0040 a0039c0043 a0005c0040 a0039c0043	a0005c0040t0004 a0039c0043t0004 a0005c0040t0004 a0039c0043t0004	a0005c0040t0004g0330 a0039c0043t0004g0331 a0005c0040t0004g0330 a0039c0043t0004g0331	2	356	0.0056	-70	c.444 others(86): Show c.4441+78_4441+147delGCAGCCTGCAATGCTCCCAGTCCCTTGCT CTGTAGCTCCAGCCCACAGCCTACAAATTCTCAGGTACCCC	MYO7A	ENSG00000137474.23	transcript	ENST00000409709.9	protein_coding	33/48		INFO_REALIGN_3_PRIME	chr11	TogoVar
MYOM2_chr8_2040046_2150456	2054961	GGGGGAAC others(63): Show GGGGGAACCAAGTACCTGGATACTGGGGGGACGAAGTACCTGGATACTGG GGAACCAAGTACCTGGATACT	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0015 a0015	a0015c0197 a0015c0197	a0015c0197t0001 a0015c0197t0001	a0015c0197t0001g0051 a0015c0197t0001g0051	1	403	0.0025	-70	c.264 others(87): Show c.264-2358_264-2289delGACGAAGTACCTGGATACTGGGGAACCA AGTACCTGGATACTGGGGAACCAAGTACCTGGATACTGGGGG	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	3/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYRFL_chr12_69820227_69964097	69891620	TTTCCTCC others(63): Show TTTCCTCCTTCCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCGTTCG	T T	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG04115.hp2 HG02896.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0306 a0001c0003t0001g0170 a0001c0001t0001g0306 a0001c0003t0001g0170	2	322	0.0062	-70	c.903 others(85): Show c.903+458_903+527delCTCCTTCCTTTCTTTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCGTTCGTTC	MYRFL	ENSG00000166268.11	transcript	ENST00000552032.7	protein_coding	7/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYRIP_chr3_39804609_40265321	40212175	TATACGTG others(63): Show TATACGTGTATGTGTATATACATATATATACGTGTGTGTATATATATATA TACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03041.hp2 HG03209.hp2 others(2): Show HG02572.hp1 HG03041.hp2 HG03209.hp2 NA18522.hp2 NA19240.hp1	a0002 a0007 a0002 a0007	a0002c0010 a0002c0017 a0007c0018 a0002c0010 a0002c0017 a0007c0018	a0002c0010t0004 a0002c0010t0014 a0002c0017t0007 others(1): Show a0002c0010t0004 a0002c0010t0014 a0002c0017t0007 a0007c0018t0001	a0002c0010t0004g0039 a0002c0010t0004g0045 a0002c0010t0014g0035 others(2): Show a0002c0010t0004g0039 a0002c0010t0004g0045 a0002c0010t0014g0035 a0002c0017t0007g0094 a0007c0018t0001g0060	5	170	0.0294	-70	c.190 others(89): Show c.1905+2086_1905+2155delCGTGTATGTGTATATACATATATATA CGTGTGTGTATATATATATATACACACACACACACACACACATA	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
MYZAP_chr15_57586904_57690364	57687500	TGTGTGTA others(63): Show TGTGTGTACAATATACACATATATATGTGTGTACAATATACACATATATA TGTGTGTACAATATACACATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00621.hp1 HG00642.hp2 others(67): Show HG00597.hp2 HG00621.hp1 HG00642.hp2 HG00735.hp1 HG00741.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01175.hp1 HG01192.hp2 HG01255.hp2 HG01516.hp2 HG01884.hp1 HG01978.hp2 HG02004.hp1 HG02027.hp2 HG02040.hp2 HG02083.hp2 HG02135.hp2 HG02273.hp1 HG02451.hp1 HG02523.hp2 HG02559.hp1 HG02622.hp2 HG02717.hp1 HG02723.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03195.hp1 HG03209.hp2 HG03239.hp1 HG03516.hp1 HG03540.hp2 NA18612.hp1 NA18747.hp1 NA18939.hp2 NA18941.hp2 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18952.hp1 NA18953.hp1 NA18955.hp2 NA18957.hp2 NA18974.hp1 NA18981.hp1 NA18983.hp1 NA18984.hp2 NA18986.hp2 NA18988.hp2 NA18998.hp2 NA18999.hp1 NA19003.hp1 NA19004.hp1 NA19007.hp2 NA19043.hp2 NA19057.hp2 NA19068.hp1 NA19074.hp2 NA19076.hp2 NA19079.hp2 NA19087.hp2 NA19088.hp2 NA19240.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0007	a0001c0001 a0001c0003 a0002c0002 others(5): Show a0001c0001 a0001c0003 a0002c0002 a0002c0004 a0002c0009 a0003c0005 a0005c0010 a0007c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0015 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0017 a0002c0002t0002 a0002c0004t0001 a0002c0009t0002 a0003c0005t0004 a0005c0010t0001 a0007c0011t0002	a0001c0001t0001g0162 a0001c0001t0001g0168 a0001c0001t0001g0173 others(67): Show a0001c0001t0001g0162 a0001c0001t0001g0168 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0213 a0001c0001t0001g0221 a0001c0001t0001g0226 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0256 a0001c0001t0001g0263 a0001c0001t0001g0266 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0286 a0001c0001t0001g0288 a0001c0001t0001g0290 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0002g0034 a0001c0001t0002g0305 a0001c0001t0002g0322 a0001c0001t0002g0324 a0001c0001t0004g0243 a0001c0001t0008g0329 a0001c0001t0008g0330 a0001c0001t0008g0332 a0001c0001t0015g0160 a0001c0003t0001g0228 a0001c0003t0001g0238 a0001c0003t0002g0023 a0001c0003t0002g0028 a0001c0003t0002g0031 a0001c0003t0002g0032 a0001c0003t0002g0041 a0001c0003t0002g0042 a0001c0003t0002g0043 a0001c0003t0002g0046 a0001c0003t0002g0048 a0001c0003t0002g0061 a0001c0003t0002g0065 a0001c0003t0003g0130 a0001c0003t0017g0123 a0002c0002t0002g0049 a0002c0002t0002g0051 a0002c0002t0002g0054 a0002c0002t0002g0064 a0002c0002t0002g0082 a0002c0002t0002g0084 a0002c0002t0002g0094 a0002c0002t0002g0344 a0002c0004t0001g0164 a0002c0004t0001g0223 a0002c0009t0002g0037 a0003c0005t0004g0334 a0005c0010t0001g0159 a0007c0011t0002g0118	70	352	0.1989	-70	c.30 others(81): Show c.3003_*3072delGTGTGTACAATATACACATATATATGTGTGTACA ATATACACATATATATGTGTGTACAATATACACATA	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding		2137		chr15	TogoVar
MYZAP_chr15_57586904_57690364	57688134	TGTGTGTA others(63): Show TGTGTGTACAATATACACATATATATGTGTGTACAATATACACATATATA TGTGTGTACAATATACACATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0335 a0003c0005t0004g0335	1	352	0.0028	-70	c.36 others(81): Show c.3637_*3706delGTGTGTACAATATACACATATATATGTGTGTACA ATATACACATATATATGTGTGTACAATATACACATA	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding		2771		chr15	TogoVar
MYZAP_chr15_57586904_57690364	57688333	TATATATA others(63): Show TATATATAATATGTGTGTACAATATACACATATATATAATATGTGTGTAC AATATACACATATAATATAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0282 a0001c0001t0001g0282	1	352	0.0028	-70	c.38 others(81): Show c.3836_*3905delATATATAATATGTGTGTACAATATACACATATAT ATAATATGTGTGTACAATATACACATATAATATAAA	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding		2970		chr15	TogoVar
NAA15_chr4_139296505_139396384	139375818	GGAACACA others(63): Show GGAACACAGTTCTATAAATATTAATATTTTAAAATGCCACCTCACCATTA ATATGTCATTTGAATAAATAC	G G	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0026 a0001c0004t0006g0026	1	334	0.0030	-70	c.194 others(87): Show c.1948-543_1948-474delCACAGTTCTATAAATATTAATATTTTAA AATGCCACCTCACCATTAATATGTCATTTGAATAAATACGAA	NAA15	ENSG00000164134.14	transcript	ENST00000296543.10	protein_coding	15/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
NCBP2L_chrX_107772733_107800829	107782282	TATAAATA others(63): Show TATAAATATATATATATAAATATATATATAAATATATATATATAAATATA TATATAAATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02809.hp2 HG02717.hp1 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0238 a0001c0002t0004g0243 a0001c0002t0004g0238 a0001c0002t0004g0243	2	303	0.0066	-70	c.-73 others(87): Show c.-73+4428_-73+4497delAATATATATATATAAATATATATATAAA TATATATATATAAATATATATATAAATATATATATATAAATA	NCBP2L	ENSG00000170935.8	transcript	ENST00000509000.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
NEU4_chr2_241804193_241822413	241805486	TCCCCCCT others(63): Show TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0005 a0001c0004t0001g0005	1	319	0.0031	-70	c.-37 others(81): Show c.-3791_-3722delCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCC TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3706		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806192	CTCCCCCC others(63): Show CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0154 a0001c0004t0001g0154	1	319	0.0031	-70	c.-30 others(81): Show c.-3085_-3016delTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3000		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806462	TCCCCCCT others(63): Show TCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0036 a0002c0003t0002g0036	1	319	0.0031	-70	c.-28 others(81): Show c.-2815_-2746delCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCC TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2730		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806652	CCCCTCAG others(63): Show CCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0074 a0001c0002t0007g0074	1	319	0.0031	-70	c.-26 others(81): Show c.-2625_-2556delCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2540		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806765	CCCCTCAG others(63): Show CCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0067 a0001c0004t0001g0067	1	319	0.0031	-70	c.-25 others(81): Show c.-2512_-2443delCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2427		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806918	TCCCCCCT others(63): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	319	0.0031	-70	c.-23 others(81): Show c.-2359_-2290delCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCT TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2274		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806950	CCTTCCCT others(63): Show CCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCT CAGCCCAGGAACCTCCGCAGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp2 NA18906.hp1 HG01952.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0004t0001 a0001c0001t0003 a0001c0004t0001	a0001c0001t0003g0196 a0001c0004t0001g0005 a0001c0001t0003g0196 a0001c0004t0001g0005	2	319	0.0063	-70	c.-23 others(81): Show c.-2327_-2258delCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGG	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2242		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806974	GACCTCCG others(63): Show GACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA CCCTCCCCCCTCAGCCCAGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG02027.hp1 HG01261.hp1 HG02027.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0002 a0001c0002t0001 a0002c0003t0002	a0001c0002t0001g0080 a0002c0003t0002g0162 a0001c0002t0001g0080 a0002c0003t0002g0162	2	319	0.0063	-70	c.-23 others(81): Show c.-2303_-2234delACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGG AACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGA	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2218		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807980	CCCCCTCA others(63): Show CCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGCC CAGGGACCTCTGCAGGCCACT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	319	0.0031	-70	c.-12 others(81): Show c.-1297_-1228delCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTC CCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1212		chr2	TogoVar
NEU4_chr2_241804193_241822413	241808010	CCTTCCCT others(63): Show CCTTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACTCTCCCCTCT TAGCCCAGGGACCTCGGCAGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 HG03927.hp1 NA18612.hp1 others(3): Show HG02027.hp1 HG03927.hp1 NA18612.hp1 NA18940.hp1 NA19000.hp2 NA19003.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 a0001c0001 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0004t0001 a0002c0003t0002 a0001c0001t0001 a0001c0004t0001 a0002c0003t0002	a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0039 others(3): Show a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0039 a0001c0004t0001g0016 a0001c0004t0001g0024 a0002c0003t0002g0162	6	319	0.0188	-70	c.-12 others(81): Show c.-1267_-1198delCTTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAG GCCACTCTCCCCTCTTAGCCCAGGGACCTCGGCAGG	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1182		chr2	TogoVar
NFASC_chr1_204865862_205027822	204877011	TATATATA others(63): Show TATATATATATATATATAATATATATTTATATATATATAATATATTTATT TATATATTTATATATATATAA	T T	intron_variant intron_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0178 a0001c0002t0001g0178	1	264	0.0038	-70	c.-91 others(87): Show c.-91+5942_-91+6011delATATATATATATATATAATATATATTTA TATATATATAATATATTTATTTATATATTTATATATATATAA	NFASC	ENSG00000163531.17	transcript	ENST00000539706.6	protein_coding	1/27			chr1	TogoVar
NFATC1_chr18_79390930_79534323	79427409	GCTGGCCT others(63): Show GCTGGCCTCTGTGCGGTGGGTGGGGGGGAGCTGGACGGCTGGCCTCTGTG CGGTGGGTGGGGGCTGTACCA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0008 a0008	a0008c0052 a0008c0052	a0008c0052t0036 a0008c0052t0036	a0008c0052t0036g0177 a0008c0052t0036g0177	1	322	0.0031	-70	c.122 others(89): Show c.1227-6149_1227-6080delGGGGGGGAGCTGGACGGCTGGCCTCT GTGCGGTGGGTGGGGGCTGTACCACTGGCCTCTGTGCGGTGGGT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr18	TogoVar

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