Joint Open Genome and Omics Platform (JoGo)

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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
MLPH_chr2_237482251_237560322	237543634	GACAGTGG others(44): Show GACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGCACGGTAGTGACTGGG GC	G G	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	263	0.0038	-51	c.153 others(69): Show c.1539+976_1539+1026delACAGTGGTGAGTGGGGACAGTGGTGAG TGGGGGCACGGTAGTGACTGGGGC	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15			chr2	TogoVar
MLXIPL_chr7_73588202_73629522	73589170	TATAAATA others(44): Show TATAAATATAAAATACATTTATATTTATTAATATAAAAATAAAATATATT TA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG02559.hp1 HG03139.hp2 others(2): Show HG01433.hp2 HG02559.hp1 HG03139.hp2 HG06807.hp1 NA18906.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0040 a0001c0008t0001g0156 a0001c0008t0001g0174 others(2): Show a0001c0008t0001g0040 a0001c0008t0001g0156 a0001c0008t0001g0174 a0001c0008t0001g0186 a0001c0008t0001g0250	5	274	0.0182	-51	c.46 others(62): Show c.4644_*4694delTAAATATATTTTATTTTTATATTAATAAATATAA ATGTATTTTATATTTAT	MLXIPL	ENSG00000009950.16	transcript	ENST00000313375.8	protein_coding		4031		chr7	TogoVar
MMP23B_chr1_1627173_1639654	1627438	CCCTGGGG others(44): Show CCCTGGGGTGAGGCCTGGGAGGGGCCCGGCCGGCGGGGCTGAGCCTGTGC GT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00558.hp2 HG00609.hp2 others(26): Show HG00544.hp2 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG01123.hp2 HG02056.hp2 HG02074.hp2 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02559.hp1 HG02630.hp2 HG02809.hp2 HG02896.hp2 HG02897.hp2 HG02976.hp1 HG03130.hp1 HG03453.hp1 HG03490.hp1 HG03831.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp2 NA18959.hp2 NA18969.hp1 NA18986.hp2 NA19070.hp2 NA19091.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0039 a0001c0001t0001g0043	29	430	0.0674	-51	c.-47 others(62): Show c.-4780_-4730delCCTGGGGTGAGGCCTGGGAGGGGCCCGGCCGGCG GGGCTGAGCCTGTGCGT	MMP23B	ENSG00000189409.14	transcript	ENST00000356026.10	protein_coding		4734		chr1	TogoVar
MOB3A_chr19_2066036_2101326	2068957	GGAGGCTG others(44): Show GGAGGCTGAGGCAGGAGAATCGCTTGAGCCCAGGAGGCGGAGGTTGTAGT GA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0170 a0001c0004t0006g0170	1	398	0.0025	-51	c.43 others(62): Show c.4387_*4437delTCACTACAACCTCCGCCTCCTGGGCTCAAGCGAT TCTCCTGCCTCAGCCTC	MOB3A	ENSG00000172081.14	transcript	ENST00000357066.8	protein_coding		2078		chr19	TogoVar
MOB3B_chr9_27320209_27534814	27475098	CAGCTGCC others(44): Show CAGCTGCCATGTTGTGAGCTCTCCTCCTGAGAGGCCCACATAGCAAGGAA CT	C C	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0196 a0001c0001t0196	a0001c0001t0196g0261 a0001c0001t0196g0261	1	318	0.0031	-51	c.-19 others(72): Show c.-198-19401_-198-19351delAGTTCCTTGCTATGTGGGCCTCTC AGGAGGAGAGCTCACAACATGGCAGCT	MOB3B	ENSG00000120162.10	transcript	ENST00000262244.6	protein_coding	1/3			chr9	TogoVar
MPP7_chr10_28045993_28308064	28262224	TACATATA others(44): Show TACATATATATATATATATACATATATATATATATGTATATATATATATA TA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp1 NA18942.hp2 others(6): Show HG00438.hp2 HG00597.hp1 NA18942.hp2 NA18951.hp1 NA18953.hp1 NA18957.hp2 NA18973.hp2 NA18988.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0003 a0001c0001t0002 a0001c0003t0003	a0001c0001t0002g0205 a0001c0001t0002g0207 a0001c0001t0002g0208 others(6): Show a0001c0001t0002g0205 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0212 a0001c0003t0003g0202 a0001c0003t0003g0204 a0001c0003t0003g0206 a0001c0003t0003g0210 a0001c0003t0003g0211	9	295	0.0305	-51	c.-13 others(72): Show c.-131-23540_-131-23490delTATATATATATATATACATATATA TATATATGTATATATATATATATATGT	MPP7	ENSG00000150054.19	transcript	ENST00000683449.1	protein_coding	1/16			chr10	TogoVar
MPPED1_chr22_43407014_43512848	43491462	GATGGAGG others(44): Show GATGGAGGTGGTGGTGGTGGTGATGGAGGTTGTAATGATGGAGGTGGTGG TT	G G	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0120 a0001c0001t0003g0120	1	248	0.0040	-51	c.633 others(68): Show c.633-6758_633-6708delGGTGGTGATGGAGGTTGTAATGATGGAG GTGGTGGTTATGGAGGTGGTGGT	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43495818	GTGGTGGT others(44): Show GTGGTGGTGGTGGAGGTAGTGGTGGTGGAGATGGTGGTGGTGGTGGTGGA GA	G G	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	239	0.0042	-51	c.633 others(68): Show c.633-2374_633-2324delTGGTGGAGATGGTGGTGGTGGAGGTAGT GGTGGTGGAGATGGTGGTGGTGG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43496526	ATGGTGGT others(44): Show ATGGTGGTGGTGGAGATGGTGGTGGTGGAGATAGTGGTGGTGGAGATGGT GG	A A	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0129 a0001c0001t0023g0129	1	202	0.0050	-51	c.633 others(68): Show c.633-1679_633-1629delATAGTGGTGGTGGAGATGGTGGTGGTGG TGGTGGAGATGGTGGTGGTGGAG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43499828	TGGTGATG others(44): Show TGGTGATGGAGGTGGTGGTGGTGATGGTGGAGGTGGTGGTGGTGGTGATG GA	T T	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	244	0.0041	-51	c.748 others(68): Show c.748+1483_748+1533delATGGAGGTGGTGGTGGTGATGGTGGAGG TGGTGGTGGTGGTGATGGAGGTG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43500221	TGGTGGAG others(44): Show TGGTGGAGGTGGTGATGGAGGTGGCAGTGATGATGGTGGTGATGGTGATG GA	T T	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02486.hp1 HG02572.hp2 others(6): Show HG01433.hp2 HG02486.hp1 HG02572.hp2 HG03017.hp1 HG03041.hp1 HG03130.hp1 HG03688.hp1 HG03942.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0001c0007	a0001c0001t0004 a0001c0001t0008 a0001c0003t0002 others(4): Show a0001c0001t0004 a0001c0001t0008 a0001c0003t0002 a0001c0003t0027 a0001c0005t0004 a0001c0006t0017 a0001c0007t0002	a0001c0001t0004g0096 a0001c0001t0008g0180 a0001c0003t0002g0242 others(6): Show a0001c0001t0004g0096 a0001c0001t0008g0180 a0001c0003t0002g0242 a0001c0003t0027g0213 a0001c0005t0004g0016 a0001c0006t0017g0171 a0001c0006t0017g0194 a0001c0007t0002g0199 a0001c0007t0002g0204	9	248	0.0363	-51	c.748 others(68): Show c.748+1877_748+1927delAGGTGGTGATGGAGGTGGCAGTGATGAT GGTGGTGATGGTGATGGAGGTGG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MRGPRG_chr11_3212944_3223813	3216168	TCTGAGCC others(44): Show TCTGAGCCCCCCAGATGGCCTTCAGACCAACAGTGCCCACACTCCCATCC TC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG02027.hp1 HG02083.hp1 others(22): Show HG00408.hp2 HG02027.hp1 HG02083.hp1 HG03225.hp1 NA18940.hp2 NA18941.hp2 NA18943.hp2 NA18944.hp1 NA18960.hp1 NA18962.hp2 NA18963.hp1 NA18979.hp1 NA18979.hp2 NA18983.hp2 NA18989.hp1 NA18993.hp1 NA18993.hp2 NA18998.hp2 NA19012.hp1 NA19062.hp2 NA19065.hp2 NA19077.hp2 NA19079.hp1 NA19084.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	25	313	0.0799	-51	c.17 others(62): Show c.1725_*1775delGAGGATGGGAGTGTGGGCACTGTTGGTCTGAAGG CCATCTGGGGGGCTCAG	MRGPRG	ENSG00000182170.3	transcript	ENST00000332314.3	protein_coding		1775		chr11	TogoVar
MROH2A_chr2_233773330_233838418	233787947	ATTATATA others(44): Show ATTATATATACATATATTATATATACATATATATTATATATACATATATT AT	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG03490.hp2 others(4): Show HG01070.hp1 HG01071.hp2 HG03490.hp2 NA18944.hp1 NA18977.hp2 NA18979.hp2 NA19066.hp2	a0001 a0003 a0007 others(1): Show a0001 a0003 a0007 a0013	a0001c0001 a0003c0002 a0003c0105 others(2): Show a0001c0001 a0003c0002 a0003c0105 a0007c0103 a0013c0019	a0001c0001t0001 a0003c0002t0001 a0003c0105t0001 others(2): Show a0001c0001t0001 a0003c0002t0001 a0003c0105t0001 a0007c0103t0001 a0013c0019t0001	a0001c0001t0001g0010 a0003c0002t0001g0313 a0003c0002t0001g0315 others(3): Show a0001c0001t0001g0010 a0003c0002t0001g0313 a0003c0002t0001g0315 a0003c0105t0001g0300 a0007c0103t0001g0314 a0013c0019t0001g0301	7	371	0.0189	-51	c.277 others(68): Show c.277-1549_277-1499delTTATATATACATATATTATATATACATA TATATTATATATACATATATTAT	MROH2A	ENSG00000185038.15	transcript	ENST00000389758.4	protein_coding	3/41			chr2	TogoVar
MRPL23_chr11_1942332_1961600	1943239	GTGAACGG others(44): Show GTGAACGGCCCCTCCCCCACCCTCTGAATGAATGAATGAGTGAGTGTATG TA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0023 a0004c0004t0001g0023	1	400	0.0025	-51	c.-41 others(62): Show c.-4123_-4073delTGAACGGCCCCTCCCCCACCCTCTGAATGAATGA ATGAGTGAGTGTATGTA	MRPL23	ENSG00000214026.11	transcript	ENST00000397298.8	protein_coding		4092		chr11	TogoVar
MRPL45_chr17_38292168_38328211	38313306	AAAAAAAT others(44): Show AAAAAAATATATATATATATATATATACATATATATATATACGTATATAT AT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0194 a0002c0002t0001g0194	1	275	0.0036	-51	c.462 others(68): Show c.462-5379_462-5329delAAAAATATATATATATATATATATACAT ATATATATATACGTATATATATA	MRPL45	ENSG00000278845.5	transcript	ENST00000613675.5	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr17	TogoVar
MSANTD2_chr11_124761498_124805406	124765979	TCAGCTGC others(44): Show TCAGCTGCTCAGGAAGCTTTGAGGCAGGAGGATTACTTGAGCCCAGGAGT TC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp1 HG01346.hp1 HG01981.hp2 others(4): Show HG01258.hp1 HG01346.hp1 HG01981.hp2 HG01993.hp1 HG02293.hp1 HG02300.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0009 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0173	7	322	0.0217	-51	c.11 others(62): Show c.1146_*1196delGAACTCCTGGGCTCAAGTAATCCTCCTGCCTCAA AGCTTCCTGAGCAGCTG	MSANTD2	ENSG00000120458.13	transcript	ENST00000374979.8	protein_coding		518		chr11	TogoVar
MT4_chr16_56560073_56573957	56568216	AAAGAAAG others(44): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAG AG	A A	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	426	0.0023	-51	c.97+ others(64): Show c.97+402_97+452delAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAGAGAGAGA	MT4	ENSG00000102891.4	transcript	ENST00000219162.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr16	TogoVar
MUC4_chr3_195741771_195816929	195767697	AAAAAATA others(44): Show AAAAAATACCACCATCGGCCACCACCACCATCACCACCACCATCACCATC GC	A A	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0025 a0025	a0025c0081 a0025c0081	a0025c0081t0001 a0025c0081t0001	a0025c0081t0001g0127 a0025c0081t0001g0127	1	246	0.0041	-51	c.135 others(70): Show c.13530-997_13530-947delGCGATGGTGATGGTGGTGGTGATGGT GGTGGTGGCCGATGGTGGTATTTTT	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	7/24			chr3	TogoVar
MYEF2_chr15_48129632_48183295	48152993	TTACCCTC others(44): Show TTACCCTCATTCTCTTGAGTTTAAGGTGTAATTTTCCAAACACTATATGA TG	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02257.hp1 HG02257.hp2 others(12): Show HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02451.hp2 HG02622.hp2 HG02809.hp2 HG02818.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG03486.hp1 NA18906.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0014 a0001c0001t0023 others(2): Show a0001c0001t0005 a0001c0001t0014 a0001c0001t0023 a0001c0001t0028 a0001c0001t0049	a0001c0001t0005g0010 a0001c0001t0005g0034 a0001c0001t0005g0044 others(8): Show a0001c0001t0005g0010 a0001c0001t0005g0034 a0001c0001t0005g0044 a0001c0001t0005g0121 a0001c0001t0005g0122 a0001c0001t0014g0131 a0001c0001t0014g0132 a0001c0001t0014g0133 a0001c0001t0023g0124 a0001c0001t0028g0120 a0001c0001t0049g0123	15	262	0.0573	-51	c.108 others(68): Show c.1087+748_1088-710delCATCATATAGTGTTTGGAAAATTACACC TTAAACTCAAGAGAATGAGGGTA	MYEF2	ENSG00000104177.20	transcript	ENST00000324324.12	protein_coding	10/16			chr15	TogoVar
MYO18A_chr17_29066122_29185398	29116649	GTGTAATC others(44): Show GTGTAATCACACTGACACACACAGAAAGAGACCCGCAAAGACATTTGTGC AC	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0070 a0002c0002t0002g0070	1	304	0.0033	-51	c.203 others(68): Show c.2039-245_2039-195delGTGCACAAATGTCTTTGCGGGTCTCTTT CTGTGTGTGTCAGTGTGATTACA	MYO18A	ENSG00000196535.20	transcript	ENST00000527372.7	protein_coding	10/41			chr17	TogoVar
MYO7B_chr2_127530683_127642726	127619230	TTGGGTTG others(44): Show TTGGGTTGTGGGGGCTGGTTGGGTTGTGGCCAGTTGGATGGTGGTGGCTG GC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03041.hp1 HG03225.hp2 others(1): Show HG02630.hp1 HG03041.hp1 HG03225.hp2 HG03516.hp1	a0011 a0029 a0011 a0029	a0011c0016 a0029c0048 a0011c0016 a0029c0048	a0011c0016t0001 a0029c0048t0001 a0011c0016t0001 a0029c0048t0001	a0011c0016t0001g0008 a0011c0016t0001g0141 a0029c0048t0001g0132 a0011c0016t0001g0008 a0011c0016t0001g0141 a0029c0048t0001g0132	4	280	0.0143	-51	c.339 others(70): Show c.3399-1104_3399-1054delTGTGGGGGCTGGTTGGGTTGTGGCCA GTTGGATGGTGGTGGCTGGCTGGGT	MYO7B	ENSG00000169994.20	transcript	ENST00000409816.8	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr2	TogoVar
MYOM2_chr8_2040046_2150456	2081063	TTTGGTTC others(44): Show TTTGGTTCTGATCTGCGGGAGGAACAGGCAGCCCAGCCCGTGTAGAATGA GG	T T	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0078 a0078	a0078c0202 a0078c0202	a0078c0202t0001 a0078c0202t0001	a0078c0202t0001g0166 a0078c0202t0001g0166	1	402	0.0025	-51	c.151 others(70): Show c.1516+1460_1516+1510delATCTGCGGGAGGAACAGGCAGCCCAG CCCGTGTAGAATGAGGTTGGTTCTG	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	13/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2081168	TGGTTCTG others(44): Show TGGTTCTGGCCTGCGGGAGGAACAGGCAGCCCAGCCCGTGTAGAATGAGG TG	T T	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0313 a0009c0012t0001g0313	1	402	0.0025	-51	c.151 others(70): Show c.1516+1606_1516+1656delGGGTTCTGGCCTGCGGGAGGAACAGG CAGCCCAGCCCGTGTAGAATGAGGT	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	13/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2086198	GCGTGGCC others(44): Show GCGTGGCCCCACTGTCATGATCTCTTTGTGGCCCCCCACTGTTGTGATCT TT	G G	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0007 a0007	a0007c0089 a0007c0089	a0007c0089t0001 a0007c0089t0001	a0007c0089t0001g0228 a0007c0089t0001g0228	1	378	0.0026	-51	c.164 others(68): Show c.1644+809_1644+859delCGTGGCCCCACTGTCATGATCTCTTTGT GGCCCCCCACTGTTGTGATCTTT	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36			chr8	TogoVar
MYOM2_chr8_2040046_2150456	2100066	TTCTTTCC others(44): Show TTCTTTCCTTCCTTTCTTCTTTCCTTCCTTCCTTCCTTCCTTCTTTCTTT CC	T T	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01358.hp1 others(4): Show HG01070.hp1 HG01071.hp1 HG01358.hp1 HG04115.hp1 NA18973.hp2 NA19004.hp2 NA19005.hp2	a0001 a0003 a0038 a0001 a0003 a0038	a0001c0003 a0001c0009 a0001c0103 others(3): Show a0001c0003 a0001c0009 a0001c0103 a0003c0001 a0003c0152 a0038c0050	a0001c0003t0001 a0001c0009t0001 a0001c0103t0001 others(3): Show a0001c0003t0001 a0001c0009t0001 a0001c0103t0001 a0003c0001t0003 a0003c0152t0001 a0038c0050t0001	a0001c0003t0001g0372 a0001c0009t0001g0365 a0001c0009t0001g0366 others(4): Show a0001c0003t0001g0372 a0001c0009t0001g0365 a0001c0009t0001g0366 a0001c0103t0001g0346 a0003c0001t0003g0275 a0003c0152t0001g0370 a0038c0050t0001g0347	7	400	0.0175	-51	c.244 others(68): Show c.2441-808_2441-758delCTTTCCTTCCTTTCTTCTTTCCTTCCTT CCTTCCTTCCTTCTTTCTTTCCT	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	19/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYZAP_chr15_57586904_57690364	57687630	TAATATGT others(44): Show TAATATGTGTGTACAATATACACATATATAATATGTGTGTACAATATACA CA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	344	0.0029	-51	c.31 others(62): Show c.3133_*3183delAATATGTGTGTACAATATACACATATATAATATG TGTGTACAATATACACA	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding		2267		chr15	TogoVar
NAGPA_chr16_5019844_5038935	5029297	CTGGCTGG others(44): Show CTGGCTGGTGACAGAATAGGAAGTGAGATTTGAAATACGAGGGGGATGAG AG	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02258.hp1 HG02486.hp1 others(10): Show HG01099.hp1 HG02258.hp1 HG02486.hp1 HG02572.hp2 HG02886.hp1 HG02965.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03471.hp1 HG03486.hp2 NA19043.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0013 a0001c0001t0003g0040 a0001c0001t0003g0124 others(3): Show a0001c0001t0003g0013 a0001c0001t0003g0040 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0129 a0001c0001t0007g0039	13	440	0.0295	-51	c.792 others(66): Show c.792-340_792-290delCTCTCATCCCCCTCGTATTTCAAATCTCAC TTCCTATTCTGTCACCAGCCA	NAGPA	ENSG00000103174.13	transcript	ENST00000312251.8	protein_coding	4/9			chr16	TogoVar
NALCN_chr13_101048776_101421508	101067255	TGGAAGAG others(44): Show TGGAAGAGGAGGTGGACGAGGAGGAGGGGGAAGAGGAGGGGGAAGAGGAG GG	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01175.hp1 HG01192.hp2 others(16): Show HG00738.hp1 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01517.hp1 HG02040.hp2 HG02109.hp1 HG02257.hp1 HG02257.hp2 HG02451.hp2 HG02559.hp2 HG02615.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG03579.hp1 HG06807.hp1 NA19030.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0001c0012 others(4): Show a0001c0001 a0001c0006 a0001c0012 a0001c0013 a0001c0019 a0001c0024 a0002c0030	a0001c0001t0001 a0001c0001t0004 a0001c0001t0015 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0015 a0001c0001t0020 a0001c0006t0004 a0001c0012t0002 a0001c0013t0012 a0001c0019t0001 a0001c0024t0012 a0002c0030t0001	a0001c0001t0001g0006 a0001c0001t0001g0023 a0001c0001t0001g0041 others(16): Show a0001c0001t0001g0006 a0001c0001t0001g0023 a0001c0001t0001g0041 a0001c0001t0001g0070 a0001c0001t0001g0090 a0001c0001t0001g0095 a0001c0001t0001g0175 a0001c0001t0004g0002 a0001c0001t0004g0018 a0001c0001t0004g0053 a0001c0001t0004g0087 a0001c0001t0015g0123 a0001c0001t0020g0176 a0001c0006t0004g0174 a0001c0012t0002g0092 a0001c0013t0012g0063 a0001c0019t0001g0017 a0001c0024t0012g0075 a0002c0030t0001g0169	19	173	0.1098	-51	c.444 others(68): Show c.4446+612_4446+662delCCCTCCTCTTCCCCCTCCTCTTCCCCCT CCTCCTCGTCCACCTCCTCTTCC	NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	39/43			chr13	TogoVar
NAPA_chr19_47482637_47520063	47490504	TGTGGTGT others(44): Show TGTGGTGTGTGTAGTGTATGTTTGGTGTGTGTGGTGTGGTGTGGTGTGTG TA	T T	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	336	0.0030	-51	c.735 others(66): Show c.735+233_735+283delTACACACACCACACCACACCACACACACCA AACATACACTACACACACCAC	NAPA	ENSG00000105402.8	transcript	ENST00000263354.8	protein_coding	9/10			chr19	TogoVar
NBPF11_chr1_148097151_148157281	148122948	GGCATGGT others(44): Show GGCATGGTTTCCTGGTCCATCAGGCAATGCATTTCTGATGTGGAGGGCCA CC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00558.hp1 others(23): Show HG00280.hp1 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG01123.hp2 HG02056.hp2 HG02148.hp2 HG03017.hp1 NA18943.hp1 NA18949.hp1 NA18962.hp1 NA18969.hp1 NA18974.hp1 NA18980.hp2 NA18989.hp2 NA18991.hp2 NA18993.hp1 NA18994.hp2 NA19000.hp2 NA19011.hp1 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0035 a0001c0001t0001 a0001c0001t0035	a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0031 others(21): Show a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0031 a0001c0001t0001g0059 a0001c0001t0001g0064 a0001c0001t0001g0075 a0001c0001t0001g0080 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0211 a0001c0001t0001g0222 a0001c0001t0001g0226 a0001c0001t0035g0269	26	386	0.0674	-51	c.494 others(66): Show c.494-198_494-148delGGTGGCCCTCCACATCAGAAATGCATTGCC TGATGGACCAGGAAACCATGC	NBPF11	ENSG00000263956.8	transcript	ENST00000682118.1	protein_coding	7/23			chr1	TogoVar
NCOA6_chr20_34709774_34830651	34817161	ATGTATAT others(44): Show ATGTATATAAATGGGTACTACGGAACTGATATTCAACAGATTCAATATCA GT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02615.hp2 HG02965.hp1 others(5): Show HG02258.hp2 HG02615.hp2 HG02965.hp1 HG03098.hp2 HG03225.hp2 HG03704.hp1 HG03710.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0129 a0001c0001t0001g0135 others(5): Show a0001c0001t0001g0124 a0001c0001t0001g0129 a0001c0001t0001g0135 a0001c0001t0001g0146 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157	8	263	0.0304	-51	c.-16 others(70): Show c.-164+8260_-164+8310delACTGATATTGAATCTGTTGAATATCA GTTCCGTAGTACCCATTTATATACA	NCOA6	ENSG00000198646.14	transcript	ENST00000359003.7	protein_coding	1/14			chr20	TogoVar
NDOR1_chr9_137200700_137224361	137217032	TTCCTCTA others(44): Show TTCCTCTAGCTCCTCCCGGTGCCCTGGGTGCTGGGTGCTGGATGGATGGG CG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01361.hp1 others(15): Show HG01167.hp2 HG01169.hp1 HG01361.hp1 HG01928.hp1 HG02004.hp2 HG02148.hp1 HG02148.hp2 HG02300.hp2 HG04199.hp2 NA18946.hp1 NA18964.hp1 NA18969.hp2 NA18972.hp2 NA18973.hp1 NA18977.hp1 NA19004.hp2 NA19077.hp1 NA19085.hp1	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0003 a0002c0002 a0010c0021 a0001c0003 a0002c0002 a0010c0021	a0001c0003t0012 a0002c0002t0004 a0002c0002t0045 others(1): Show a0001c0003t0012 a0002c0002t0004 a0002c0002t0045 a0010c0021t0004	a0001c0003t0012g0013 a0002c0002t0004g0005 a0002c0002t0004g0093 others(2): Show a0001c0003t0012g0013 a0002c0002t0004g0005 a0002c0002t0004g0093 a0002c0002t0045g0005 a0010c0021t0004g0005	18	383	0.0470	-51	c.66 others(60): Show c.661_*711delATGGGCGTCCTCTAGCTCCTCCCGGTGCCCTGGGTG CTGGGTGCTGGATGG	NDOR1	ENSG00000188566.15	transcript	ENST00000684003.1	protein_coding	14/14	661	INFO_REALIGN_3_PRIME	chr9	TogoVar
NDOR1_chr9_137200700_137224361	137217077	ATGGGCGT others(44): Show ATGGGCGTCCTCTAGCTCCTCCCGGTGCCCTGGGTGCTGGGTGCTGGATG GG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01515.hp1 others(12): Show HG01070.hp1 HG01071.hp2 HG01515.hp1 HG01884.hp1 HG02293.hp1 HG02572.hp1 HG02647.hp2 HG02922.hp1 HG02965.hp1 HG03130.hp1 HG03130.hp2 HG03490.hp1 HG03492.hp2 NA18906.hp1 NA18942.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0010 a0001c0020 others(1): Show a0001c0001 a0001c0010 a0001c0020 a0005c0008	a0001c0001t0007 a0001c0010t0022 a0001c0020t0007 others(1): Show a0001c0001t0007 a0001c0010t0022 a0001c0020t0007 a0005c0008t0015	a0001c0001t0007g0007 a0001c0010t0022g0071 a0001c0010t0022g0073 others(4): Show a0001c0001t0007g0007 a0001c0010t0022g0071 a0001c0010t0022g0073 a0001c0020t0007g0007 a0005c0008t0015g0007 a0005c0008t0015g0028 a0005c0008t0015g0070	15	384	0.0391	-51	c.71 others(60): Show c.719_*769delTCCTCTAGCTCCTCCCGGTGCCCTGGGTGCTGGGTG CTGGATGGGTGGGCG	NDOR1	ENSG00000188566.15	transcript	ENST00000684003.1	protein_coding	14/14	719	INFO_REALIGN_3_PRIME	chr9	TogoVar
NEU4_chr2_241804193_241822413	241807884	ACCTTCCC others(44): Show ACCTTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCC CT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	188	0.0053	-51	c.-13 others(62): Show c.-1393_-1343delCCTTCCCTCCCTCCCCCCTCAGCCCAGGGACCTC TGCAGGCCACCCTCCCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1308		chr2	TogoVar
NEU4_chr2_241804193_241822413	241810681	GCAGGCTG others(44): Show GCAGGCTGGGGGCAGGCCAGCGTGAAAGGGACTGGCAGGAGTCCTGCGGG GA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00735.hp2 HG01975.hp1 others(11): Show HG00280.hp2 HG00735.hp2 HG01975.hp1 HG01975.hp2 HG02055.hp2 HG02145.hp1 HG02622.hp2 HG04228.hp2 NA18943.hp1 NA18946.hp2 NA18947.hp2 NA18951.hp1 NA19010.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0003 a0001c0002t0001 a0001c0002t0006 others(1): Show a0001c0001t0003 a0001c0002t0001 a0001c0002t0006 a0001c0004t0001	a0001c0001t0003g0096 a0001c0002t0001g0004 a0001c0002t0001g0027 others(3): Show a0001c0001t0003g0096 a0001c0002t0001g0004 a0001c0002t0001g0027 a0001c0002t0001g0065 a0001c0002t0006g0004 a0001c0004t0001g0069	14	318	0.0440	-51	c.-4+ others(66): Show c.-4+1484_-4+1534delAGGGACTGGCAGGAGTCCTGCGGGGACAGG CTGGGGGCAGGCCAGCGTGAA	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
NEU4_chr2_241804193_241822413	241810758	AGGGACTG others(44): Show AGGGACTGGCAGGAGTCCTGCGGGGACAGGCTGGGGGCAGGCCAGCGTGA AT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(59): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00323.hp2 HG00558.hp1 HG00639.hp2 HG00733.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01168.hp1 HG01169.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01496.hp1 HG01515.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp2 HG02004.hp2 HG02280.hp2 HG02559.hp1 HG02559.hp2 HG02683.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp2 HG02886.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03139.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp2 HG03516.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG06807.hp2 NA18612.hp2 NA18906.hp2 NA18959.hp1 NA18962.hp2 NA18977.hp1 NA19003.hp1 NA19004.hp2 NA19005.hp2 NA19043.hp1 NA19085.hp1 NA19240.hp2 NA20752.hp2 NA20805.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0013 a0002c0003 a0002c0008 a0003c0007	a0001c0001t0003 a0001c0002t0001 a0001c0004t0001 others(6): Show a0001c0001t0003 a0001c0002t0001 a0001c0004t0001 a0001c0004t0010 a0001c0013t0001 a0002c0003t0001 a0002c0003t0002 a0002c0008t0002 a0003c0007t0002	a0001c0001t0003g0048 a0001c0001t0003g0051 a0001c0001t0003g0149 others(42): Show a0001c0001t0003g0048 a0001c0001t0003g0051 a0001c0001t0003g0149 a0001c0002t0001g0117 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0004t0001g0019 a0001c0004t0001g0100 a0001c0004t0010g0102 a0001c0013t0001g0063 a0002c0003t0001g0005 a0002c0003t0002g0005 a0002c0003t0002g0008 a0002c0003t0002g0018 a0002c0003t0002g0028 a0002c0003t0002g0029 a0002c0003t0002g0033 a0002c0003t0002g0035 a0002c0003t0002g0036 a0002c0003t0002g0046 a0002c0003t0002g0101 a0002c0003t0002g0103 a0002c0003t0002g0124 a0002c0003t0002g0127 a0002c0003t0002g0131 a0002c0003t0002g0137 a0002c0003t0002g0139 a0002c0003t0002g0140 a0002c0003t0002g0141 a0002c0003t0002g0142 a0002c0003t0002g0143 a0002c0003t0002g0144 a0002c0003t0002g0146 a0002c0003t0002g0147 a0002c0003t0002g0148 a0002c0003t0002g0163 a0002c0003t0002g0164 a0002c0003t0002g0172 a0002c0003t0002g0173 a0002c0003t0002g0174 a0002c0003t0002g0175 a0002c0008t0002g0136 a0002c0008t0002g0138 a0003c0007t0002g0019 a0003c0007t0002g0145	62	302	0.2053	-51	c.-4+ others(66): Show c.-4+1556_-4+1606delGGGGACAGGCTGGGGGCAGGCCAGCGTGAA TGGGACTGGCAGGAGTCCTGC	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
NEU4_chr2_241804193_241822413	241810831	GGGACAGG others(44): Show GGGACAGGCTGGGGGCAGGCCAGCGTGAATGGGACTGGCAGGAGTCCTGC AC	G G	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01928.hp2 HG01952.hp1 others(15): Show HG00673.hp1 HG01928.hp2 HG01952.hp1 HG01981.hp2 HG02055.hp1 HG02056.hp1 HG02109.hp1 HG02155.hp1 HG02818.hp1 HG02818.hp2 HG02897.hp1 NA18977.hp2 NA19000.hp2 NA19063.hp2 NA19067.hp2 NA19068.hp1 NA19080.hp2 NA19085.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0003 a0001c0004 a0002c0003	a0001c0004t0001 a0002c0003t0003 a0001c0004t0001 a0002c0003t0003	a0001c0004t0001g0012 a0001c0004t0001g0015 a0001c0004t0001g0068 others(10): Show a0001c0004t0001g0012 a0001c0004t0001g0015 a0001c0004t0001g0068 a0001c0004t0001g0071 a0001c0004t0001g0072 a0001c0004t0001g0073 a0001c0004t0001g0107 a0001c0004t0001g0108 a0001c0004t0001g0110 a0001c0004t0001g0114 a0001c0004t0001g0115 a0001c0004t0001g0116 a0002c0003t0003g0109	18	318	0.0566	-51	c.-4+ others(66): Show c.-4+1560_-4+1610delACAGGCTGGGGGCAGGCCAGCGTGAATGGG ACTGGCAGGAGTCCTGCACGG	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
NEXN_chr1_77883624_77948895	77887912	TTTCTTCT others(44): Show TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp1 HG02976.hp2 HG03209.hp2 others(2): Show HG02735.hp1 HG02976.hp2 HG03209.hp2 HG03927.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0001 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0023 a0001c0001t0001g0142 a0001c0001t0001g0143 others(2): Show a0001c0001t0001g0023 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0004g0255 a0001c0001t0005g0020	5	180	0.0278	-51	c.-89 others(60): Show c.-899_-849delTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTC	NEXN	ENSG00000162614.19	transcript	ENST00000334785.12	protein_coding		711		chr1	TogoVar
NFATC1_chr18_79390930_79534323	79395630	GCCCCCCC others(44): Show GCCCCCCCTCCCCGGGCGCCCCCCTCCCCGGGCGCCCCCCCTCCCCGTGC GC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0057 a0002c0003t0057	a0002c0003t0057g0248 a0002c0003t0057g0248	1	286	0.0035	-51	c.-59 others(60): Show c.-594_-544delCCCCCCCTCCCCGGGCGCCCCCCTCCCCGGGCGCCC CCCCTCCCCGTGCGC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		299		chr18	TogoVar
NFATC1_chr18_79390930_79534323	79395644	GGCGCCCC others(44): Show GGCGCCCCCCTCCCCGGGCGCCCCCCCTCCCCGTGCGCCCCCCCCTCCCC GT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG01167.hp1 HG01261.hp2 others(3): Show HG01123.hp1 HG01167.hp1 HG01261.hp2 HG01975.hp2 HG02148.hp2 NA20300.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0027 a0002c0022 others(1): Show a0001c0001 a0001c0027 a0002c0022 a0003c0007	a0001c0001t0007 a0001c0027t0008 a0002c0022t0007 others(2): Show a0001c0001t0007 a0001c0027t0008 a0002c0022t0007 a0003c0007t0002 a0003c0007t0008	a0001c0001t0007g0016 a0001c0027t0008g0013 a0002c0022t0007g0022 others(3): Show a0001c0001t0007g0016 a0001c0027t0008g0013 a0002c0022t0007g0022 a0003c0007t0002g0025 a0003c0007t0008g0017 a0003c0007t0008g0032	6	319	0.0188	-51	c.-58 others(60): Show c.-580_-530delGCGCCCCCCTCCCCGGGCGCCCCCCCTCCCCGTGCG CCCCCCCCTCCCCGT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		285		chr18	TogoVar
NFU1_chr2_69391126_69442435	69423146	TTGTGTGT others(44): Show TTGTGTGTGTGTGTGTGTGTGTATGTGTGTGTGTGTGTGGTGAGATGGGC TG	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00558.hp1 HG01074.hp1 others(32): Show HG00323.hp2 HG00558.hp1 HG01074.hp1 HG01106.hp2 HG01168.hp2 HG01515.hp2 HG01516.hp2 HG01891.hp1 HG01952.hp2 HG01981.hp1 HG02040.hp2 HG02071.hp1 HG02109.hp1 HG02132.hp1 HG02145.hp2 HG02280.hp1 HG02630.hp1 HG02698.hp2 HG02723.hp2 HG02818.hp1 HG02886.hp1 HG02976.hp2 HG03041.hp1 HG03195.hp2 HG03225.hp2 HG03491.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03927.hp2 NA18522.hp1 NA18950.hp1 NA19004.hp2 NA19240.hp1 NA20752.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0004c0005t0001 a0001c0001t0001 a0004c0005t0001	a0001c0001t0001g0006 a0001c0001t0001g0071 a0001c0001t0001g0072 others(31): Show a0001c0001t0001g0006 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0149 a0001c0001t0001g0328 a0004c0005t0001g0080 a0004c0005t0001g0102 a0004c0005t0001g0103 a0004c0005t0001g0107	35	359	0.0975	-51	c.302 others(66): Show c.302+385_302+435delCAGCCCATCTCACCACACACACACACACAT ACACACACACACACACACACA	NFU1	ENSG00000169599.13	transcript	ENST00000410022.7	protein_coding	3/7			chr2	TogoVar
NGB_chr14_77260483_77276206	77269676	CTCTCTCT others(44): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02965.hp2 HG03654.hp1 others(8): Show HG00544.hp1 HG02965.hp2 HG03654.hp1 HG03654.hp2 NA18945.hp1 NA18974.hp1 NA18977.hp2 NA18999.hp2 NA19054.hp2 NA19086.hp1 NA19086.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0014 a0004c0004t0001 a0001c0001t0001 a0001c0001t0014 a0004c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0019 a0001c0001t0014g0103 a0004c0004t0001g0058	11	364	0.0302	-51	c.90- others(64): Show c.90-401_90-351delAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGA	NGB	ENSG00000165553.5	transcript	ENST00000298352.5	protein_coding	1/3			chr14	TogoVar
NGEF_chr2_232873701_233018256	232906167	TGGGGGGG others(44): Show TGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAAGGAGGT GG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00544.hp1 others(90): Show HG00140.hp1 HG00323.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG01069.hp1 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01243.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01515.hp2 HG01517.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02015.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02155.hp2 HG02300.hp1 HG02451.hp1 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02818.hp2 HG02976.hp2 HG03139.hp1 HG03139.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03927.hp1 HG04199.hp2 NA18747.hp2 NA18940.hp2 NA18942.hp2 NA18943.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18960.hp1 NA18962.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18981.hp1 NA18983.hp2 NA18985.hp1 NA18992.hp1 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19012.hp2 NA19054.hp1 NA19055.hp2 NA19056.hp1 NA19057.hp1 NA19065.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19085.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0004 others(8): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0012 a0002c0006 a0002c0008 a0002c0010 a0003c0019 a0004c0016 a0005c0017	a0001c0001t0001 a0001c0002t0003 a0001c0002t0009 others(17): Show a0001c0001t0001 a0001c0002t0003 a0001c0002t0009 a0001c0002t0012 a0001c0004t0003 a0001c0004t0004 a0001c0004t0014 a0001c0004t0017 a0001c0005t0005 a0001c0005t0006 a0001c0005t0016 a0001c0012t0010 a0002c0006t0005 a0002c0008t0004 a0002c0008t0017 a0002c0010t0003 a0002c0010t0012 a0003c0019t0003 a0004c0016t0022 a0005c0017t0003	a0001c0001t0001g0046 a0001c0001t0001g0102 a0001c0002t0003g0001 others(89): Show a0001c0001t0001g0046 a0001c0001t0001g0102 a0001c0002t0003g0001 a0001c0002t0003g0059 a0001c0002t0003g0064 a0001c0002t0003g0066 a0001c0002t0003g0074 a0001c0002t0003g0075 a0001c0002t0003g0117 a0001c0002t0003g0194 a0001c0002t0003g0210 a0001c0002t0003g0248 a0001c0002t0003g0249 a0001c0002t0003g0278 a0001c0002t0003g0285 a0001c0002t0003g0289 a0001c0002t0003g0313 a0001c0002t0003g0316 a0001c0002t0003g0338 a0001c0002t0003g0346 a0001c0002t0009g0179 a0001c0002t0012g0092 a0001c0002t0012g0119 a0001c0002t0012g0125 a0001c0002t0012g0274 a0001c0002t0012g0299 a0001c0004t0003g0256 a0001c0004t0003g0258 a0001c0004t0003g0270 a0001c0004t0003g0277 a0001c0004t0003g0279 a0001c0004t0003g0283 a0001c0004t0003g0295 a0001c0004t0003g0318 a0001c0004t0004g0027 a0001c0004t0004g0028 a0001c0004t0004g0029 a0001c0004t0004g0030 a0001c0004t0004g0031 a0001c0004t0004g0032 a0001c0004t0004g0033 a0001c0004t0004g0035 a0001c0004t0004g0040 a0001c0004t0004g0095 a0001c0004t0004g0126 a0001c0004t0004g0130 a0001c0004t0004g0139 a0001c0004t0004g0148 a0001c0004t0004g0153 a0001c0004t0004g0162 a0001c0004t0004g0214 a0001c0004t0004g0237 a0001c0004t0004g0238 a0001c0004t0004g0261 a0001c0004t0004g0267 a0001c0004t0004g0284 a0001c0004t0004g0290 a0001c0004t0004g0291 a0001c0004t0004g0293 a0001c0004t0004g0297 a0001c0004t0004g0301 a0001c0004t0004g0317 a0001c0004t0014g0269 a0001c0004t0014g0276 a0001c0004t0017g0004 a0001c0005t0005g0320 a0001c0005t0006g0158 a0001c0005t0016g0323 a0001c0012t0010g0105 a0002c0006t0005g0044 a0002c0008t0004g0127 a0002c0008t0004g0135 a0002c0008t0004g0136 a0002c0008t0004g0138 a0002c0008t0004g0141 a0002c0008t0004g0207 a0002c0008t0004g0219 a0002c0008t0004g0220 a0002c0008t0004g0221 a0002c0008t0004g0356 a0002c0008t0017g0006 a0002c0010t0003g0051 a0002c0010t0003g0058 a0002c0010t0003g0086 a0002c0010t0003g0087 a0002c0010t0003g0088 a0002c0010t0003g0089 a0002c0010t0003g0215 a0002c0010t0012g0057 a0003c0019t0003g0268 a0004c0016t0022g0007 a0005c0017t0003g0335	93	228	0.4079	-51	c.829 others(70): Show c.829-11302_829-11252delCCACCTCCTTCCCGGACGGGGCGGCT GGCCAGGCGGGGGGCTGACCCCCCC	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	5/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232906188	TGGCCAGC others(44): Show TGGCCAGCCGCCCCGTCCGGGAAGGAGGTGGGGGGGGGTCAGCCCCCCGC CC	T T	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0002 a0002c0018t0002	a0002c0018t0002g0358 a0002c0018t0002g0358	1	355	0.0028	-51	c.829 others(70): Show c.829-11323_829-11273delGGGCGGGGGGCTGACCCCCCCCCACC TCCTTCCCGGACGGGGCGGCTGGCC	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	5/14			chr2	TogoVar
NKAIN2_chr6_123798865_124830640	124587398	TTAGTAGA others(44): Show TTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCT GA	T T	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0058 a0001c0002t0013g0058	1	66	0.0152	-51	c.274 others(70): Show c.274-70787_274-70737delTAGTAGAGATGGGGTTTCACCATGTT AGTCAGGCTGGTCTCGAACTCCTGA	NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	3/6			chr6	TogoVar
NLRP4_chr19_55831540_55886855	55862431	TTTATTGA others(44): Show TTTATTGAGACCACTGATTGGGTTTCAGAGAAGACTATAGCGTAAGTCTC CG	T T	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18945.hp1 NA18959.hp1 others(1): Show NA18942.hp1 NA18945.hp1 NA18959.hp1 NA18971.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0004 a0002c0003t0010 a0001c0001t0004 a0002c0003t0010	a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0085 others(1): Show a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0085 a0002c0003t0010g0342	4	422	0.0095	-51	c.218 others(68): Show c.2186+322_2186+372delCGTTATTGAGACCACTGATTGGGTTTCA GAGAAGACTATAGCGTAAGTCTC	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55862481	CGTTATTG others(44): Show CGTTATTGAGACCACTGATTGGGTTTCAGAGAAGACTATAGCGTAAGTCT CT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03669.hp1 NA19043.hp1 others(1): Show HG02486.hp2 HG03669.hp1 NA19043.hp1 NA19084.hp1	a0001 a0002 a0001 a0002	a0001c0011 a0002c0003 a0001c0011 a0002c0003	a0001c0011t0001 a0002c0003t0003 a0002c0003t0008 a0001c0011t0001 a0002c0003t0003 a0002c0003t0008	a0001c0011t0001g0181 a0002c0003t0003g0215 a0002c0003t0008g0330 others(1): Show a0001c0011t0001g0181 a0002c0003t0003g0215 a0002c0003t0008g0330 a0002c0003t0008g0400	4	422	0.0095	-51	c.218 others(68): Show c.2186+326_2186+376delATTGAGACCACTGATTGGGTTTCAGAGA AGACTATAGCGTAAGTCTCTGTT	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NME8_chr7_37843597_37905397	37848194	AGAAGAGA others(44): Show AGAAGAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00609.hp1 HG00735.hp2 others(15): Show HG00140.hp2 HG00609.hp1 HG00735.hp2 HG01175.hp2 HG01192.hp1 HG01256.hp2 HG01515.hp2 HG01975.hp1 HG02083.hp1 HG02647.hp2 HG03209.hp1 HG03831.hp1 HG04204.hp2 NA18973.hp2 NA18991.hp2 NA19001.hp2 NA19010.hp1 NA19088.hp1	a0001 a0004 a0017 a0001 a0004 a0017	a0001c0001 a0001c0004 a0001c0007 others(3): Show a0001c0001 a0001c0004 a0001c0007 a0004c0005 a0004c0012 a0017c0034	a0001c0001t0001 a0001c0001t0003 a0001c0004t0003 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0004t0003 a0001c0007t0001 a0004c0005t0001 a0004c0005t0003 a0004c0012t0001 a0017c0034t0001	a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0048 others(15): Show a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0096 a0001c0001t0003g0008 a0001c0004t0003g0003 a0001c0004t0003g0099 a0001c0004t0003g0113 a0001c0007t0001g0049 a0001c0007t0001g0055 a0004c0005t0001g0073 a0004c0005t0001g0107 a0004c0005t0001g0170 a0004c0005t0003g0008 a0004c0005t0003g0015 a0004c0012t0001g0006 a0017c0034t0001g0117	18	356	0.0506	-51	c.-77 others(60): Show c.-774_-724delGAAGAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAG	NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding		402		chr7	TogoVar
NME8_chr7_37843597_37905397	37848243	AAGGAAGA others(44): Show AAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAACAAGAAGA AG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0196 a0001c0001t0005g0196	1	373	0.0027	-51	c.-72 others(60): Show c.-725_-675delAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAACAAGAAGAAG	NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding		353		chr7	TogoVar
NMNAT2_chr1_183243237_183423380	183389800	GAAAGAAA others(44): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAAA AA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	256	0.0039	-51	c.85+ others(68): Show c.85+28332_85+28382delTTTTTTCCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTT	NMNAT2	ENSG00000157064.11	transcript	ENST00000287713.7	protein_coding	1/10			chr1	TogoVar

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