Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MOB3C_chr1_46602719_46621811	46619523	GTTAGAGA others(68): Show GTTAGAGAGACTAGTTCTTCTAGGAGGCTCTGCTGGGGCTGAAAAGACCC AGACCTTGGAGAACAGTGTCCTGGCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	426	0.0024	-75	c.-29 others(86): Show c.-2938_-2864delAGCCAGGACACTGTTCTCCAAGGTCTGGGTCTTT TCAGCCCCAGCAGAGCCTCCTAGAAGAACTAGTCTCTCTAA	MOB3C	ENSG00000142961.16	transcript	ENST00000319928.9	protein_coding		2713		chr1	TogoVar
MPPED1_chr22_43407014_43512848	43499783	TGGTGGTG others(68): Show TGGTGGTGGTGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTG ATGGAGGTGGTGGTGGTGATGGTGGA	T T	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0101 a0001c0002t0016g0101	1	250	0.0040	-75	c.748 others(92): Show c.748+1447_748+1521delATGGAGGTGGTGATGGGGGTGGTGGTGG TGATGGTGATGGAGGTGGTGGTGGTGATGGTGGAGGTGGTGGTGGTG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MROH2A_chr2_233773330_233838418	233790586	CTCCCCTT others(68): Show CTCCCCTTTCCCTCACCTCCCCTCCCTCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02630.hp1 HG02895.hp2 others(2): Show HG02055.hp1 HG02630.hp1 HG02895.hp2 HG03098.hp2 HG03209.hp2	a0003 a0021 a0037 others(1): Show a0003 a0021 a0037 a0097	a0003c0008 a0021c0079 a0037c0034 others(1): Show a0003c0008 a0021c0079 a0037c0034 a0097c0076	a0003c0008t0001 a0021c0079t0001 a0037c0034t0001 others(1): Show a0003c0008t0001 a0021c0079t0001 a0037c0034t0001 a0097c0076t0001	a0003c0008t0001g0029 a0003c0008t0001g0031 a0021c0079t0001g0030 others(2): Show a0003c0008t0001g0029 a0003c0008t0001g0031 a0021c0079t0001g0030 a0037c0034t0001g0039 a0097c0076t0001g0032	5	378	0.0132	-75	c.571 others(90): Show c.571+573_571+647delTCCCCTTTCCCTCACCTCCCCTCCCTCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT	MROH2A	ENSG00000185038.15	transcript	ENST00000389758.4	protein_coding	5/41			chr2	TogoVar
MRPL45_chr17_38292168_38328211	38313306	AAAAAAAT others(68): Show AAAAAAATATATATATATATATATATACATATATATATATACGTATATAT ATATATATATACGTATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	287	0.0035	-75	c.462 others(92): Show c.462-5379_462-5305delAAAAATATATATATATATATATATACAT ATATATATATACGTATATATATATATATATACGTATATATATATATA	MRPL45	ENSG00000278845.5	transcript	ENST00000613675.5	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr17	TogoVar
MSH3_chr5_80649652_80881815	80824340	GGACGGGG others(68): Show GGACGGGGCGGCTGGCCGGGTGGGGGCTGCCCCCCACCTCCCTCCAGGAC GGGGGCTGCCCCCCACCTCCCTCCCA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0003 a0005c0006t0003	a0005c0006t0003g0358 a0005c0006t0003g0358	1	362	0.0028	-75	c.281 others(96): Show c.2813+10619_2813+10693delTGGGGGCTGCCCCCCACCTCCCTC CAGGACGGGGGCTGCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGG G	MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	20/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
MTM1_chrX_150563621_150678143	150583362	TAAATTAT others(68): Show TAAATTATATATATTATATATAATATAATATATATAAATTATATATATTA TATTATATATAATTATAAATATATAA	T T	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	277	0.0036	-75	c.-10 others(92): Show c.-10-9219_-10-9145delATAATATATATAAATTATATATATTATA TTATATATAATTATAAATATATAAAAATTATATATATTATATATAAT	MTM1	ENSG00000171100.16	transcript	ENST00000370396.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chrX	TogoVar
MTM1_chrX_150563621_150678143	150583487	TATATATA others(68): Show TATATATAAATTATAAATATATATAATTTATATATATTATATATAAATTA TATATATTATACATAATTTATATATA	T T	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	277	0.0036	-75	c.-10 others(92): Show c.-10-9109_-10-9035delATTATAAATATATATAATTTATATATAT TATATATAAATTATATATATTATACATAATTTATATATAATATATAA	MTM1	ENSG00000171100.16	transcript	ENST00000370396.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chrX	TogoVar
MUC4_chr3_195741771_195816929	195775606	CATACCTT others(68): Show CATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACAGTCATAC CTTCCACACCCATACCTTCCACACCG	C C	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0002 a0002	a0002c0098 a0002c0098	a0002c0098t0001 a0002c0098t0001	a0002c0098t0001g0122 a0002c0098t0001g0122	1	249	0.0040	-75	c.129 others(96): Show c.12944-1376_12944-1302delCGGTGTGGAAGGTATGGGTGTGGA AGGTATGACTGTGGAAGGTATGGGTGTGGAAGGTATGACTGTGGAAGGTA T	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195775620	TCATACCT others(68): Show TCATACCTTCCACACCCATACCTTCCACAGTCATACCTTCCACACCCATA CCTTCCACACCGATACCTTCCACACC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01070.hp2 HG01071.hp1 others(2): Show HG00738.hp1 HG01070.hp2 HG01071.hp1 NA18971.hp1 NA19086.hp1	a0011 a0019 a0023 others(1): Show a0011 a0019 a0023 a0133	a0011c0028 a0019c0014 a0023c0013 others(1): Show a0011c0028 a0019c0014 a0023c0013 a0133c0088	a0011c0028t0001 a0019c0014t0001 a0023c0013t0001 others(1): Show a0011c0028t0001 a0019c0014t0001 a0023c0013t0001 a0133c0088t0001	a0011c0028t0001g0057 a0019c0014t0001g0072 a0019c0014t0001g0100 others(2): Show a0011c0028t0001g0057 a0019c0014t0001g0072 a0019c0014t0001g0100 a0023c0013t0001g0113 a0133c0088t0001g0135	5	249	0.0201	-75	c.129 others(96): Show c.12944-1390_12944-1316delGGTGTGGAAGGTATCGGTGTGGAA GGTATGGGTGTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAAGGTAT G	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195775784	CCCTTACC others(68): Show CCCTTACCTTCCACACCCATACCTTCCACGGCCATACCTTCCACGGTCAT ACCTTCCACACCCATACCTTCCACGG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01978.hp2 HG02056.hp2 others(3): Show HG00323.hp2 HG01978.hp2 HG02056.hp2 HG02071.hp1 HG02273.hp1 HG02895.hp1	a0094 a0102 a0113 others(3): Show a0094 a0102 a0113 a0144 a0145 a0171	a0094c0178 a0102c0122 a0113c0047 others(3): Show a0094c0178 a0102c0122 a0113c0047 a0144c0071 a0145c0070 a0171c0111	a0094c0178t0004 a0102c0122t0001 a0113c0047t0001 others(3): Show a0094c0178t0004 a0102c0122t0001 a0113c0047t0001 a0144c0071t0001 a0145c0070t0001 a0171c0111t0001	a0094c0178t0004g0235 a0102c0122t0001g0052 a0113c0047t0001g0126 others(3): Show a0094c0178t0004g0235 a0102c0122t0001g0052 a0113c0047t0001g0126 a0144c0071t0001g0095 a0145c0070t0001g0169 a0171c0111t0001g0051	6	249	0.0241	-75	c.129 others(96): Show c.12944-1554_12944-1480delCCGTGGAAGGTATGGGTGTGGAAG GTATGACCGTGGAAGGTATGGCCGTGGAAGGTATGGGTGTGGAAGGTAAG G	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195775904	CCCATACC others(68): Show CCCATACCTTCCACACCCATACCTTCCACAGTCATACCTTCCACACCCAT ACCTTCCACACCCATACCTTCCACAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp1 HG00558.hp2 others(22): Show HG00099.hp1 HG00438.hp1 HG00558.hp2 HG00597.hp1 HG00639.hp2 HG00642.hp2 HG01258.hp2 HG01346.hp1 HG01496.hp2 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02135.hp1 HG02145.hp1 HG02258.hp1 HG02293.hp2 HG03239.hp1 HG03942.hp2 HG04199.hp2 NA18950.hp1 NA18973.hp1 NA18983.hp1 NA19003.hp1 NA19007.hp1 NA19091.hp2	a0002 a0004 a0020 others(18): Show a0002 a0004 a0020 a0021 a0023 a0024 a0025 a0076 a0100 a0117 a0120 a0121 a0122 a0123 a0129 a0131 a0137 a0147 a0156 a0182 a0187	a0002c0002 a0002c0099 a0002c0100 others(21): Show a0002c0002 a0002c0099 a0002c0100 a0004c0017 a0020c0062 a0020c0067 a0021c0039 a0023c0013 a0024c0012 a0025c0010 a0076c0168 a0100c0120 a0117c0079 a0120c0060 a0121c0057 a0122c0058 a0123c0059 a0129c0038 a0131c0076 a0137c0104 a0147c0063 a0156c0106 a0182c0042 a0187c0026	a0002c0002t0001 a0002c0099t0001 a0002c0100t0001 others(21): Show a0002c0002t0001 a0002c0099t0001 a0002c0100t0001 a0004c0017t0001 a0020c0062t0001 a0020c0067t0001 a0021c0039t0001 a0023c0013t0001 a0024c0012t0001 a0025c0010t0001 a0076c0168t0001 a0100c0120t0001 a0117c0079t0001 a0120c0060t0001 a0121c0057t0001 a0122c0058t0001 a0123c0059t0001 a0129c0038t0001 a0131c0076t0001 a0137c0104t0001 a0147c0063t0001 a0156c0106t0001 a0182c0042t0001 a0187c0026t0001	a0002c0002t0001g0128 a0002c0099t0001g0172 a0002c0100t0001g0121 others(22): Show a0002c0002t0001g0128 a0002c0099t0001g0172 a0002c0100t0001g0121 a0004c0017t0001g0105 a0020c0062t0001g0147 a0020c0067t0001g0090 a0021c0039t0001g0124 a0023c0013t0001g0076 a0024c0012t0001g0114 a0024c0012t0001g0156 a0025c0010t0001g0141 a0076c0168t0001g0082 a0100c0120t0001g0091 a0117c0079t0001g0157 a0120c0060t0001g0092 a0121c0057t0001g0108 a0122c0058t0001g0142 a0123c0059t0001g0115 a0129c0038t0001g0148 a0131c0076t0001g0097 a0137c0104t0001g0087 a0147c0063t0001g0149 a0156c0106t0001g0144 a0182c0042t0001g0143 a0187c0026t0001g0050	25	249	0.1004	-75	c.129 others(96): Show c.12944-1674_12944-1600delATGTGGAAGGTATGGGTGTGGAAG GTATGGGTGTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAAGGTATG G	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195776294	CCCATACC others(68): Show CCCATACCTTCCACACCCATACCTTCCACAGTCATACCTTCCACACCCAT ACCTTCCACACCCATACCTTCCACAG	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01261.hp2 HG02040.hp2 others(4): Show HG00621.hp1 HG01261.hp2 HG02040.hp2 HG02135.hp2 HG03492.hp1 NA18985.hp1 NA19070.hp2	a0018 a0108 a0135 others(4): Show a0018 a0108 a0135 a0151 a0161 a0164 a0170	a0018c0011 a0108c0117 a0135c0103 others(4): Show a0018c0011 a0108c0117 a0135c0103 a0151c0083 a0161c0066 a0164c0049 a0170c0110	a0018c0011t0001 a0108c0117t0001 a0135c0103t0001 others(4): Show a0018c0011t0001 a0108c0117t0001 a0135c0103t0001 a0151c0083t0001 a0161c0066t0001 a0164c0049t0001 a0170c0110t0001	a0018c0011t0001g0178 a0108c0117t0001g0165 a0135c0103t0001g0111 others(4): Show a0018c0011t0001g0178 a0108c0117t0001g0165 a0135c0103t0001g0111 a0151c0083t0001g0117 a0161c0066t0001g0153 a0164c0049t0001g0054 a0170c0110t0001g0103	7	249	0.0281	-75	c.129 others(96): Show c.12943+1934_12944-1990delCTGTGGAAGGTATGGGTGTGGAAG GTATGGGTGTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAAGGTATG G	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195776955	TCATACCT others(68): Show TCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACATCCATA CCTTCCACACCCATACCTTCCACACC	T T	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG03225.hp2 HG03579.hp1 HG01975.hp1 HG03225.hp2 HG03579.hp1	a0066 a0104 a0105 a0066 a0104 a0105	a0066c0177 a0104c0030 a0105c0124 a0066c0177 a0104c0030 a0105c0124	a0066c0177t0004 a0104c0030t0005 a0105c0124t0003 a0066c0177t0004 a0104c0030t0005 a0105c0124t0003	a0066c0177t0004g0226 a0104c0030t0005g0232 a0105c0124t0003g0116 a0066c0177t0004g0226 a0104c0030t0005g0232 a0105c0124t0003g0116	3	249	0.0121	-75	c.129 others(96): Show c.12943+1273_12943+1347delGGTGTGGAAGGTATGGGTGTGGAA GGTATGGATGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTAT G	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195777030	CCATACCT others(68): Show CCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAGTCATA CCTTCCACACCCATACCTTCCACAGT	C C	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18982.hp1 NA18946.hp2 NA18982.hp1	a0011 a0017 a0011 a0017	a0011c0008 a0017c0018 a0011c0008 a0017c0018	a0011c0008t0001 a0017c0018t0010 a0011c0008t0001 a0017c0018t0010	a0011c0008t0001g0058 a0017c0018t0010g0003 a0011c0008t0001g0058 a0017c0018t0010g0003	2	249	0.0080	-75	c.129 others(96): Show c.12943+1198_12943+1272delACTGTGGAAGGTATGGGTGTGGAA GGTATGACTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTAT G	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195777105	TCATACCT others(68): Show TCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACATCCATA CCTTCCACACCCATACCTTCCACACC	T T	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0056 a0056	a0056c0142 a0056c0142	a0056c0142t0007 a0056c0142t0007	a0056c0142t0007g0006 a0056c0142t0007g0006	1	249	0.0040	-75	c.129 others(96): Show c.12943+1123_12943+1197delGGTGTGGAAGGTATGGGTGTGGAA GGTATGGATGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTAT G	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195777272	ATACCTTC others(68): Show ATACCTTCCACATCCATACCTTCCACACCCATACCTTCCACACCCATACC TTCCACACCCATACCTTCCACACCCT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00438.hp2 others(31): Show HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00639.hp2 HG00741.hp1 HG01070.hp1 HG01106.hp1 HG01192.hp1 HG02027.hp1 HG02056.hp1 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG03017.hp2 HG03239.hp1 HG03491.hp1 HG03834.hp1 NA18946.hp1 NA18950.hp2 NA18971.hp2 NA18973.hp1 NA18974.hp2 NA18975.hp1 NA18982.hp2 NA18983.hp1 NA18990.hp1 NA18990.hp2 NA18998.hp2 NA19007.hp2 NA19011.hp1 NA19064.hp1 NA19091.hp1 NA19091.hp2	a0002 a0008 a0010 others(23): Show a0002 a0008 a0010 a0018 a0020 a0022 a0095 a0098 a0115 a0117 a0124 a0125 a0128 a0134 a0136 a0137 a0140 a0147 a0150 a0157 a0158 a0162 a0166 a0174 a0182 a0186	a0002c0002 a0002c0098 a0002c0099 others(26): Show a0002c0002 a0002c0098 a0002c0099 a0008c0086 a0010c0005 a0018c0011 a0020c0067 a0022c0096 a0022c0101 a0095c0025 a0098c0027 a0115c0051 a0117c0079 a0124c0080 a0125c0082 a0128c0114 a0134c0105 a0136c0113 a0137c0104 a0140c0089 a0147c0063 a0150c0093 a0157c0107 a0158c0084 a0162c0065 a0166c0109 a0174c0116 a0182c0042 a0186c0128	a0002c0002t0001 a0002c0098t0001 a0002c0099t0001 others(26): Show a0002c0002t0001 a0002c0098t0001 a0002c0099t0001 a0008c0086t0001 a0010c0005t0001 a0018c0011t0001 a0020c0067t0001 a0022c0096t0001 a0022c0101t0001 a0095c0025t0001 a0098c0027t0001 a0115c0051t0001 a0117c0079t0001 a0124c0080t0001 a0125c0082t0001 a0128c0114t0002 a0134c0105t0001 a0136c0113t0011 a0137c0104t0001 a0140c0089t0001 a0147c0063t0001 a0150c0093t0001 a0157c0107t0001 a0158c0084t0001 a0162c0065t0001 a0166c0109t0001 a0174c0116t0001 a0182c0042t0001 a0186c0128t0001	a0002c0002t0001g0002 a0002c0002t0001g0120 a0002c0002t0001g0128 others(30): Show a0002c0002t0001g0002 a0002c0002t0001g0120 a0002c0002t0001g0128 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0098t0001g0122 a0002c0099t0001g0172 a0008c0086t0001g0163 a0010c0005t0001g0064 a0018c0011t0001g0177 a0020c0067t0001g0090 a0022c0096t0001g0077 a0022c0101t0001g0130 a0095c0025t0001g0137 a0098c0027t0001g0199 a0115c0051t0001g0134 a0117c0079t0001g0157 a0124c0080t0001g0201 a0125c0082t0001g0200 a0128c0114t0002g0084 a0134c0105t0001g0139 a0136c0113t0011g0088 a0137c0104t0001g0087 a0140c0089t0001g0071 a0147c0063t0001g0149 a0150c0093t0001g0119 a0157c0107t0001g0145 a0158c0084t0001g0136 a0162c0065t0001g0056 a0166c0109t0001g0174 a0174c0116t0001g0107 a0182c0042t0001g0143 a0186c0128t0001g0170	34	249	0.1366	-75	c.129 others(95): Show c.12943+956_12943+1030delAGGGTGTGGAAGGTATGGGTGTGGA AGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGATGTGGAAGGTA	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195777465	CCATACCT others(68): Show CCATACCTTCCACACCCTTACCTTCCACACCCATACCTTCCACAGTCATA CCTTCCACACCCATACCTTCCACAGT	C C	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA19003.hp2 NA18977.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0158 a0001c0001 a0001c0158	a0001c0001t0002 a0001c0158t0006 a0001c0001t0002 a0001c0158t0006	a0001c0001t0002g0048 a0001c0158t0006g0033 a0001c0001t0002g0048 a0001c0158t0006g0033	2	249	0.0080	-75	c.129 others(94): Show c.12943+763_12943+837delACTGTGGAAGGTATGGGTGTGGAAGG TATGACTGTGGAAGGTATGGGTGTGGAAGGTAAGGGTGTGGAAGGTATG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MYBPC2_chr19_50427892_50471321	50435021	GGTCTGAG others(68): Show GGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGG AGGGGCTGGGGGGTCTGGACTCCTGC	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG03516.hp2 HG03579.hp1 HG00735.hp1 HG03516.hp2 HG03579.hp1	a0001 a0014 a0001 a0014	a0001c0001 a0014c0015 a0001c0001 a0014c0015	a0001c0001t0001 a0014c0015t0001 a0001c0001t0001 a0014c0015t0001	a0001c0001t0001g0039 a0001c0001t0001g0040 a0014c0015t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0014c0015t0001g0038	3	396	0.0076	-75	c.20- others(87): Show c.20-127_20-53delAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGG GAGGAGGGGCTGGGGGGTCTGGACTCCTGCGTCTGAGGGAGG	MYBPC2	ENSG00000086967.10	transcript	ENST00000357701.6	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr19	TogoVar
MYO1F_chr19_8515778_8582442	8543675	CTGGTGGT others(68): Show CTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGTGGTGGT GCTGGTGGTGCTGGTGGTGCTGGTGG	C C	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01433.hp1 HG01928.hp2 others(1): Show HG01361.hp2 HG01433.hp1 HG01928.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0002g0293 others(1): Show a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0002g0293 a0001c0001t0006g0186	4	342	0.0117	-75	c.152 others(92): Show c.1524+547_1524+621delCCACCAGCACCACCAGCACCACCAGCAC CACCACCACCACCAGCACCACCACCACCACCACCACCACCACCACCA	MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	14/27			chr19	TogoVar
MYOM2_chr8_2040046_2150456	2085517	CCCCCACT others(68): Show CCCCCACTGTTGTGATCTCTGCGTGGCCCCACTGTCATGATCTCTGCGTG GCCCCACTGTTGTGATCTCTGCGTGG	C C	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA19240.hp1 NA18961.hp2 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0020 a0003c0001 a0001c0020 a0003c0001	a0001c0020t0001 a0003c0001t0001 a0001c0020t0001 a0003c0001t0001	a0001c0020t0001g0052 a0003c0001t0001g0114 a0001c0020t0001g0052 a0003c0001t0001g0114	2	403	0.0050	-75	c.164 others(92): Show c.1644+137_1644+211delTGTGATCTCTGCGTGGCCCCACTGTCAT GATCTCTGCGTGGCCCCACTGTTGTGATCTCTGCGTGGCCCCACTGT	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2085527	TGTGATCT others(68): Show TGTGATCTCTGCGTGGCCCCACTGTCATGATCTCTGCGTGGCCCCACTGT TGTGATCTCTGCGTGGCCCCACTGTC	T T	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0002 a0002	a0002c0105 a0002c0105	a0002c0105t0001 a0002c0105t0001	a0002c0105t0001g0341 a0002c0105t0001g0341	1	403	0.0025	-75	c.164 others(92): Show c.1644+157_1644+231delACTGTCATGATCTCTGCGTGGCCCCACT GTTGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTGCGTGGCCCC	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2086203	GCCCCACT others(68): Show GCCCCACTGTCATGATCTCTTTGTGGCCCCCCACTGTTGTGATCTTTGCG TGGCCCCACTGTCATGATCTCTGGCA	G G	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02155.hp2 HG02074.hp1 HG02155.hp2	a0001 a0001	a0001c0020 a0001c0084 a0001c0020 a0001c0084	a0001c0020t0002 a0001c0084t0001 a0001c0020t0002 a0001c0084t0001	a0001c0020t0002g0249 a0001c0084t0001g0350 a0001c0020t0002g0249 a0001c0084t0001g0350	2	403	0.0050	-75	c.164 others(92): Show c.1644+824_1644+898delATGATCTCTTTGTGGCCCCCCACTGTTG TGATCTTTGCGTGGCCCCACTGTCATGATCTCTGGCACCCCACTGTC	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2086240	TGTGATCT others(68): Show TGTGATCTTTGCGTGGCCCCACTGTCATGATCTCTGGCACCCCACTGTCG TGATCTCCGCGTGGCCCCCCACAGTC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01168.hp2 HG01169.hp1 others(10): Show HG00140.hp1 HG01168.hp2 HG01169.hp1 NA18945.hp2 NA18946.hp2 NA18959.hp2 NA18965.hp1 NA18973.hp2 NA18977.hp1 NA18987.hp1 NA19006.hp1 NA19011.hp1 NA19077.hp2	a0001 a0003 a0004 others(5): Show a0001 a0003 a0004 a0008 a0009 a0012 a0018 a0041	a0001c0003 a0003c0001 a0003c0004 others(6): Show a0001c0003 a0003c0001 a0003c0004 a0004c0051 a0008c0008 a0009c0012 a0012c0011 a0018c0018 a0041c0210	a0001c0003t0001 a0001c0003t0004 a0003c0001t0003 others(7): Show a0001c0003t0001 a0001c0003t0004 a0003c0001t0003 a0003c0004t0002 a0004c0051t0002 a0008c0008t0001 a0009c0012t0001 a0012c0011t0001 a0018c0018t0001 a0041c0210t0001	a0001c0003t0001g0251 a0001c0003t0004g0252 a0003c0001t0003g0273 others(9): Show a0001c0003t0001g0251 a0001c0003t0004g0252 a0003c0001t0003g0273 a0003c0004t0002g0040 a0003c0004t0002g0147 a0003c0004t0002g0269 a0004c0051t0002g0285 a0008c0008t0001g0270 a0009c0012t0001g0049 a0012c0011t0001g0003 a0018c0018t0001g0221 a0041c0210t0001g0153	13	403	0.0323	-75	c.164 others(92): Show c.1644+858_1644+932delTTGCGTGGCCCCACTGTCATGATCTCTG GCACCCCACTGTCGTGATCTCCGCGTGGCCCCCCACAGTCGTGATCT	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
NAALADL2_chr3_174854334_175815548	175132352	GCAGAGGG others(68): Show GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCCGACGGGTCTGTTGGCC	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01169.hp2 others(11): Show HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01255.hp2 HG01261.hp1 HG02055.hp1 HG02109.hp1 HG02717.hp1 HG02922.hp1 HG02922.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp2 NA21309.hp1	a0001 a0003 a0004 others(6): Show a0001 a0003 a0004 a0005 a0006 a0007 a0010 a0014 a0016	a0001c0001 a0001c0013 a0003c0003 others(9): Show a0001c0001 a0001c0013 a0003c0003 a0003c0007 a0004c0002 a0005c0006 a0005c0011 a0006c0010 a0007c0012 a0010c0020 a0014c0022 a0016c0015	a0001c0001t0030 a0001c0001t0037 a0001c0013t0007 others(11): Show a0001c0001t0030 a0001c0001t0037 a0001c0013t0007 a0003c0003t0004 a0003c0007t0006 a0004c0002t0008 a0004c0002t0034 a0005c0006t0020 a0005c0011t0004 a0006c0010t0019 a0007c0012t0003 a0010c0020t0028 a0014c0022t0001 a0016c0015t0002	a0001c0001t0030g0030 a0001c0001t0037g0038 a0001c0013t0007g0021 others(11): Show a0001c0001t0030g0030 a0001c0001t0037g0038 a0001c0013t0007g0021 a0003c0003t0004g0020 a0003c0007t0006g0041 a0004c0002t0008g0006 a0004c0002t0034g0055 a0005c0006t0020g0052 a0005c0011t0004g0029 a0006c0010t0019g0016 a0007c0012t0003g0033 a0010c0020t0028g0001 a0014c0022t0001g0034 a0016c0015t0002g0005	14	64	0.2188	-75	c.545 others(94): Show c.545+35062_545+35136delCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCCGACGGGTCTGTTGGCC	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	2/13			chr3	TogoVar
NBPF9_chr1_149047186_149108551	149077529	AGCAAAAC others(68): Show AGCAAAACGGAGGTTCCCTTAAAGAGGGAACAGGCAATCCTCTTCTCTCT GCAACAGACCATGGCTGCCATGGGAG	A A	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0262 a0003c0003t0002g0262	1	344	0.0029	-75	c.567 others(90): Show c.567-185_567-111delCTCCCATGGCAGCCATGGTCTGTTGCAGAG AGAAGAGGATTGCCTGTTCCCTCTTTAAGGGAACCTCCGTTTTGC	NBPF9	ENSG00000269713.9	transcript	ENST00000698832.1	protein_coding	10/29			chr1	TogoVar
NDUFAF7_chr2_37226658_37254160	37249568	CACACACA others(68): Show CACACACACACACACACACACACACACACACACACAGAGGGGAGATCGCT CCGTTGCACTGTAGCCTGTGATAGAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0035 a0001c0001t0007g0035	1	432	0.0023	-75	c.12 others(86): Show c.1219_*1293delACACACACACACACACACACACACACACACACAC AGAGGGGAGATCGCTCCGTTGCACTGTAGCCTGTGATAGAG	NDUFAF7	ENSG00000003509.16	transcript	ENST00000002125.9	protein_coding		409		chr2	TogoVar
NDUFV3_chr21_42888309_42918299	42908564	GCCTGTGT others(68): Show GCCTGTGTGTGAGCCGAGTCATTCATAAAGAGCTGTTCACAGATAGGGTT GATGAAGAATGCTTGGTAGGTAAGCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG01070.hp1 others(7): Show HG00099.hp1 HG00323.hp1 HG01070.hp1 HG01071.hp2 HG01106.hp1 HG01243.hp1 HG03490.hp2 HG03492.hp2 HG04199.hp1 NA20805.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0023 a0002c0002t0041 a0002c0002t0011 a0002c0002t0023 a0002c0002t0041	a0002c0002t0011g0034 a0002c0002t0011g0184 a0002c0002t0011g0185 others(6): Show a0002c0002t0011g0034 a0002c0002t0011g0184 a0002c0002t0011g0185 a0002c0002t0011g0186 a0002c0002t0011g0187 a0002c0002t0011g0188 a0002c0002t0023g0040 a0002c0002t0023g0041 a0002c0002t0041g0183	10	348	0.0287	-75	c.126 others(92): Show c.1265-225_1265-151delACCTGTGTGTGAGCCGAGTCATTCATAA AGAGCTGTTCACAGATAGGGTTGATGAAGAATGCTTGGTAGGTAAGC	NDUFV3	ENSG00000160194.18	transcript	ENST00000354250.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
NEU4_chr2_241804193_241822413	241805638	TCCCCCCT others(68): Show TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCA GGAACCTCCGCAGGCCACCCTCCCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0018 a0001c0001t0005g0018	1	319	0.0031	-75	c.-36 others(86): Show c.-3639_-3565delCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCC TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTC	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3554		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806501	TCCCCCCT others(68): Show TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCA GGAACCTCCGCAGGCCACCTTCCCTC	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	-75	c.-27 others(86): Show c.-2776_-2702delCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCC TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTC	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2691		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807342	CCCCTCAG others(68): Show CCCCTCAGCCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCCTCACGCC AGGGACCCGGGAAGAGCACCTTCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0020 a0001c0004t0001g0020	1	319	0.0031	-75	c.-19 others(86): Show c.-1935_-1861delCCCTCAGCCCAGGAACCTCCGCAGGCCAGCTTCC CTCCCCCCTCACGCCAGGGACCCGGGAAGAGCACCTTCCCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1850		chr2	TogoVar
NFATC1_chr18_79390930_79534323	79477551	TACCGGCC others(68): Show TACCGGCCGTACTGTTGGTGGAAGAAGGGAGTCCGGGGCACTGTCTCAGT CTTCGGGGCTTCCATAGTGGAGCACC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02572.hp2 HG02970.hp2 HG02109.hp2 HG02572.hp2 HG02970.hp2	a0001 a0001	a0001c0006 a0001c0008 a0001c0048 a0001c0006 a0001c0008 a0001c0048	a0001c0006t0048 a0001c0008t0046 a0001c0048t0005 a0001c0006t0048 a0001c0008t0046 a0001c0048t0005	a0001c0006t0048g0049 a0001c0008t0046g0284 a0001c0048t0005g0283 a0001c0006t0048g0049 a0001c0008t0046g0284 a0001c0048t0005g0283	3	322	0.0093	-75	c.209 others(94): Show c.2093-8679_2093-8605delTGGAAGAAGGGAGTCCGGGGCACTGT CTCAGTCTTCGGGGCTTCCATAGTGGAGCACCACCGGCCGTACTGTTGG	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NGB_chr14_77260483_77276206	77269723	TCTCTTCT others(68): Show TCTCTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCCCTCTCCCTCTCCCC	T T	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01361.hp2 NA18959.hp1 others(4): Show HG01256.hp1 HG01361.hp2 NA18959.hp1 NA18968.hp2 NA18981.hp1 NA18989.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	7	366	0.0191	-75	c.90- others(88): Show c.90-472_90-398delGGGGAGAGGGAGAGGGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAGAG	NGB	ENSG00000165553.5	transcript	ENST00000298352.5	protein_coding	1/3			chr14	TogoVar
NGB_chr14_77260483_77276206	77269727	TTCTCTCT others(68): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCCCTCTCCCTCTCCCCCCCC	T T	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA18948.hp1 HG06807.hp2 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0101 a0001c0001t0001g0102	2	366	0.0055	-75	c.90- others(88): Show c.90-476_90-402delGGGGGGGGAGAGGGAGAGGGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	NGB	ENSG00000165553.5	transcript	ENST00000298352.5	protein_coding	1/3			chr14	TogoVar
NINL_chr20_25447697_25590531	25469172	CTGGTGAG others(68): Show CTGGTGAGTGTCCCCTTGCCCTGTCCCCCGACTCTCACTGGTGGGCGCCC GCCTGCCCTGTCCCCCTGACTCTCAT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02809.hp1 NA19043.hp2 HG02145.hp1 HG02809.hp1 NA19043.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0222 a0001c0012t0001g0223 a0001c0012t0001g0229 a0001c0012t0001g0222 a0001c0012t0001g0223 a0001c0012t0001g0229	3	310	0.0097	-75	c.335 others(92): Show c.3353+744_3353+818delATGAGAGTCAGGGGGACAGGGCAGGCGG GCGCCCACCAGTGAGAGTCGGGGGACAGGGCAAGGGGACACTCACCA	NINL	ENSG00000101004.16	transcript	ENST00000278886.11	protein_coding	18/23			chr20	TogoVar
NME8_chr7_37843597_37905397	37848174	AAAGAAGA others(68): Show AAAGAAGAAGAAGAAGAAGAAGAAGAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGGAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	388	0.0026	-75	c.-79 others(84): Show c.-794_-720delAAGAAGAAGAAGAAGAAGAAGAAGAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAAG	NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding		422		chr7	TogoVar
NRXN3_chr14_78165373_79873291	78926813	TTATATAT others(68): Show TTATATATTATATATAATTTATATAAATATATAATATATTATATATATAA TATATATATAATATATAATATATTTA	T T	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0017 a0001c0006t0017	a0001c0006t0017g0001 a0001c0006t0017g0001	1	24	0.0417	-75	c.227 others(96): Show c.2276-30421_2276-30347delTATATATAATTTATATAAATATAT AATATATTATATATATAATATATATATAATATATAATATATTTATATATA T	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NTSR1_chr20_62703836_62767771	62740309	GCAGGCCG others(68): Show GCAGGCCGGAAGGAAAAGGGTTGTGGGGCTCATTCTTAGTCATAGGGTGA GCGGCAGGCAGATCTTATAAGCCGCA	G G	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01167.hp1 HG02559.hp1 others(8): Show HG01123.hp1 HG01167.hp1 HG02559.hp1 HG02622.hp2 HG02723.hp2 HG02809.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02976.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0008 a0001c0002t0004 a0001c0001t0005 a0001c0001t0008 a0001c0002t0004	a0001c0001t0005g0013 a0001c0001t0005g0185 a0001c0001t0005g0256 others(7): Show a0001c0001t0005g0013 a0001c0001t0005g0185 a0001c0001t0005g0256 a0001c0001t0005g0257 a0001c0001t0005g0258 a0001c0001t0005g0259 a0001c0001t0005g0260 a0001c0001t0008g0167 a0001c0001t0008g0292 a0001c0002t0004g0127	11	316	0.0348	-75	c.715 others(94): Show c.715-14309_715-14235delTAAGCCGCACAGGCCGGAAGGAAAAG GGTTGTGGGGCTCATTCTTAGTCATAGGGTGAGCGGCAGGCAGATCTTA	NTSR1	ENSG00000101188.5	transcript	ENST00000370501.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
NXN_chr17_794310_984776	948971	CCCCGCGG others(68): Show CCCCGCGGGCTCCTCCTCTCCCCCCGGGCTCCTCCTCTCCCCCCGGGCTC CTCCTCTCCCCCCTGCCTCCTCCTCT	C C	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0117 a0001c0001t0003g0117	1	242	0.0041	-75	c.360 others(94): Show c.360+30273_360+30347delAGAGGAGGAGGCAGGGGGGAGAGGAG GAGCCCGGGGGGAGAGGAGGAGCCCGGGGGGAGAGGAGGAGCCCGCGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OPCML_chr11_132409981_133537501	133458482	ACACATAT others(68): Show ACACATATATACACGTGTGTGTGTATATACACATATATACACTGTGTGTG TATACACATATATACACGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 NA18522.hp2 HG02647.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0029 a0001c0001t0026 a0001c0001t0029	a0001c0001t0026g0053 a0001c0001t0029g0058 a0001c0001t0026g0053 a0001c0001t0029g0058	2	68	0.0294	-75	c.61+ others(92): Show c.61+73707_61+73781delCACACACACGTGTATATATGTGTATACA CACACAGTGTATATATGTGTATATACACACACACGTGTATATATGTG	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OPCML_chr11_132409981_133537501	133458506	ATATACAC others(68): Show ATATACACATATATACACTGTGTGTGTATACACATATATACACGTGTGTG TGTATACACATATATACACGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02451.hp1 HG02615.hp2 others(5): Show HG02258.hp1 HG02451.hp1 HG02615.hp2 HG02647.hp1 HG02809.hp1 HG02976.hp2 HG03516.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0013 a0001c0001t0014 a0001c0001t0020 a0001c0001t0023	a0001c0001t0001g0013 a0001c0001t0003g0044 a0001c0001t0005g0025 others(5): Show a0001c0001t0001g0013 a0001c0001t0003g0044 a0001c0001t0005g0025 a0001c0001t0005g0038 a0001c0001t0013g0041 a0001c0001t0014g0017 a0001c0001t0020g0033 a0001c0001t0023g0039	8	68	0.1177	-75	c.61+ others(92): Show c.61+73683_61+73757delCACACACGTGTATATATGTGTATACACA CACACGTGTATATATGTGTATACACACACAGTGTATATATGTGTATA	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OSBPL5_chr11_3082107_3170310	3143031	GGGGGGGG others(68): Show GGGGGGGGGCAGAGGAGGCAGGTGCGGAGCGGGGCAGAGGAGGCAGGTGC AGAGGGGGGCAGAGGAGGCAGGTGCA	G G	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	326	0.0031	-75	c.-21 others(94): Show c.-21-13937_-21-13863delTGCACCTGCCTCCTCTGCCCCCCTCT GCACCTGCCTCCTCTGCCCCGCTCCGCACCTGCCTCCTCTGCCCCCCCC	OSBPL5	ENSG00000021762.20	transcript	ENST00000263650.12	protein_coding	1/21			chr11	TogoVar
OSBPL5_chr11_3082107_3170310	3143086	GGGGCAGA others(68): Show GGGGCAGAGGAGGCAGGTGCAGAGCCGGGCAGAGGAGGCAGGTGCAGAGG GGGGCAGAGGAGGCAGGTGCAGAGCC	G G	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0039 a0001c0002t0039	a0001c0002t0039g0051 a0001c0002t0039g0051	1	326	0.0031	-75	c.-21 others(94): Show c.-21-13992_-21-13918delGGCTCTGCACCTGCCTCCTCTGCCCC CCTCTGCACCTGCCTCCTCTGCCCGGCTCTGCACCTGCCTCCTCTGCCC	OSBPL5	ENSG00000021762.20	transcript	ENST00000263650.12	protein_coding	1/21			chr11	TogoVar
OSTF1_chr9_75083514_75152265	75128506	TATATATA others(68): Show TATATATATATATATTTTGTCCATATATATATATATATATTTTGTCCATA TATATATATATATATATATTTTGTCC	T T	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01516.hp1 HG01517.hp1 others(8): Show HG01074.hp1 HG01516.hp1 HG01517.hp1 HG01952.hp2 HG02717.hp1 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03471.hp1 NA19240.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 others(1): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0018	a0001c0001t0005g0281 a0001c0001t0006g0033 a0001c0001t0006g0232 others(8): Show a0001c0001t0005g0281 a0001c0001t0006g0033 a0001c0001t0006g0232 a0001c0001t0006g0233 a0001c0001t0006g0234 a0001c0001t0008g0012 a0001c0001t0008g0178 a0001c0001t0008g0179 a0001c0001t0008g0180 a0001c0001t0018g0085 a0001c0001t0018g0086	11	366	0.0301	-75	c.132 others(90): Show c.132+902_132+976delTTTGTCCATATATATATATATATATTTTGT CCATATATATATATATATATATATTTTGTCCATATATATATATAT	OSTF1	ENSG00000134996.12	transcript	ENST00000346234.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
OTUD7A_chr15_31470398_31875673	31510511	TATATGTA others(68): Show TATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACATA CATATGTATATCTATATGTAACATAC	T T	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01934.hp1 HG03710.hp1 HG01496.hp1 HG01934.hp1 HG03710.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0099 a0002c0003t0003 a0002c0003t0099	a0002c0003t0003g0192 a0002c0003t0003g0193 a0002c0003t0099g0244 a0002c0003t0003g0192 a0002c0003t0003g0193 a0002c0003t0099g0244	3	244	0.0123	-75	c.894 others(92): Show c.894-6768_894-6694delGTATGTTACATATAGATATACATATGTA TGTTACATATAGATATACATATGTATGTTACATATAGATATACATAT	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
P2RX5_chr17_3668227_3701155	3686365	TCCCCCGC others(68): Show TCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCC CCAGGGACCCTCCCAACGTCCCCCGC	T T	intron_variant intron_variant	MODIFIER	HG03239.hp1 NA18984.hp1 NA19009.hp1 others(1): Show HG03239.hp1 NA18984.hp1 NA19009.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0067 a0001c0001t0001g0086 a0001c0001t0001g0113 others(1): Show a0001c0001t0001g0067 a0001c0001t0001g0086 a0001c0001t0001g0113 a0002c0002t0001g0153	4	362	0.0111	-75	c.981 others(92): Show c.981+1572_981+1646delGCGGGGGACGTTGGGAGGGTCCCTGGGG GCCCCGCTGTGCGTTCTCCTGTTCTGAGGCTGGGCGGGGGGCGGGGG	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
P2RX5_chr17_3668227_3701155	3686433	TCCCCCGC others(68): Show TCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCC CCAGGGACCCTCCCAACGTCCCCCGC	T T	intron_variant intron_variant	MODIFIER	HG01106.hp2 NA18947.hp2 HG01106.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0281 a0001c0001t0001g0260 a0001c0001t0001g0281	2	362	0.0055	-75	c.981 others(92): Show c.981+1504_981+1578delGCGGGGGACGTTGGGAGGGTCCCTGGGG GCCCCGCTGTGCGTTCTCCTGTTCTGAGGCTGGGCGGGGGGCGGGGG	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
P2RX5_chr17_3668227_3701155	3686501	TCCCCCGC others(68): Show TCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCC CCAGGGACCCTCCCAACGTCCCCCGC	T T	intron_variant intron_variant	MODIFIER	HG03831.hp2 NA18952.hp1 HG03831.hp2 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0110 a0001c0001t0002g0292 a0001c0001t0002g0110 a0001c0001t0002g0292	2	362	0.0055	-75	c.981 others(92): Show c.981+1436_981+1510delGCGGGGGACGTTGGGAGGGTCCCTGGGG GCCCCGCTGTGCGTTCTCCTGTTCTGAGGCTGGGCGGGGGGCGGGGG	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
P2RX5_chr17_3668227_3701155	3686834	TCCCCCGC others(68): Show TCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCC CCAGGGACCCTCCCAACGTCCCCCGC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	362	0.0028	-75	c.981 others(92): Show c.981+1103_981+1177delGCGGGGGACGTTGGGAGGGTCCCTGGGG GCCCCGCTGTGCGTTCTCCTGTTCTGAGGCTGGGCGGGGGGCGGGGG	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
P2RX5_chr17_3668227_3701155	3687228	TCCCCCGC others(68): Show TCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACACACAGCGGGACCC CCAGGGACCCTCCCAACGTCCCCCGC	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0169 a0002c0002t0002g0169	1	362	0.0028	-75	c.981 others(90): Show c.981+709_981+783delGCGGGGGACGTTGGGAGGGTCCCTGGGGGT CCCGCTGTGTGTTCTCCTGTTCTGAGGCTGGGCGGGGGGCGGGGG	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
P2RY12_chr3_151331843_151389753	151368619	TATTTTAT others(68): Show TATTTTATTTTATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTT CATTTCATGTCATTTCATTTTATTTC	T T	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0293 a0001c0001t0001g0293	1	396	0.0025	-75	c.-18 others(96): Show c.-180+15998_-180+16072delGAAATAAAATGAAATGACATGAAA TGAAATGAAATGAAATGAAATGAAATGAAATGAAATGAAATAAAATAAAA T	P2RY12	ENSG00000169313.10	transcript	ENST00000302632.4	protein_coding	1/2			chr3	TogoVar

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