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
MELTF_chr3_196996740_197034817	197034717	CTTGCTGA others(93): Show CTTGCTGACTGGTTACTGTGTGAGCACCTGCAGTAGTGTGATGTCAGAGG ATGTTACACTCTTGCTGACTGGTTACTTTGTGAGCACCTGCAGTAGTGTG A	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0056 a0001c0002t0056	a0001c0002t0056g0247 a0001c0002t0056g0247	1	418	0.0024	-100	c.-51 others(111): Show c.-5115_-5016delTCACACTACTGCAGGTGCTCACAAAGTAACCAGT CAGCAAGAGTGTAACATCCTCTGACATCACACTACTGCAGGTGCTCACAC AGTAACCAGTCAGCAA	MELTF	ENSG00000163975.14	transcript	ENST00000296350.10	protein_coding		4901		chr3	TogoVar
METRNL_chr17_83074609_83100122	83090164	CCACACAC others(93): Show CCACACACCCCTGCCCCGCCCCAGGGTGGGAGCCACACACCCCCGCCCCG CCCCAGGGTGGGAGCCACACACACCCCCGCCCTGCCCCAGGGTGGGAGCC A	C C	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0002 a0004c0007t0002	a0004c0007t0002g0263 a0004c0007t0002g0263	1	384	0.0026	-100	c.557 others(117): Show c.557-2992_557-2893delTGCCCCGCCCCAGGGTGGGAGCCACACA CCCCCGCCCCGCCCCAGGGTGGGAGCCACACACACCCCCGCCCTGCCCCA GGGTGGGAGCCACACACACCCC	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
MLPH_chr2_237482251_237560322	237544191	GTGTGGGG others(93): Show GTGTGGGGGGACAGTGGTGAGTTGGGGGGACAGTGGTGAGTGGGGACAGT GGTGAGTGGGGACAGTAATGAGTCGGGGGACAGTGGTGAGTGGGCACAGT A	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0030 a0030	a0030c0028 a0030c0028	a0030c0028t0001 a0030c0028t0001	a0030c0028t0001g0131 a0030c0028t0001g0131	1	274	0.0036	-100	c.153 others(119): Show c.1539+1533_1539+1632delTGTGGGGGGACAGTGGTGAGTTGGGG GGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTAATGAGTCGGG GGACAGTGGTGAGTGGGCACAGTA	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15			chr2	TogoVar
MLPH_chr2_237482251_237560322	237544833	GTGTGGGG others(93): Show GTGTGGGGGGACAGTGGTGAGTTGGGGGGACAGTGGTGAGTGGGGACAGT GGTGAGTGGGGACAGTAATGAGTCGGGGGACAGTGGTGAGTGGGCACAGT A	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02896.hp1 NA20300.hp2 HG02145.hp1 HG02896.hp1 NA20300.hp2	a0002 a0003 a0002 a0003	a0002c0008 a0003c0003 a0002c0008 a0003c0003	a0002c0008t0001 a0003c0003t0001 a0003c0003t0005 a0002c0008t0001 a0003c0003t0001 a0003c0003t0005	a0002c0008t0001g0093 a0003c0003t0001g0264 a0003c0003t0005g0263 a0002c0008t0001g0093 a0003c0003t0001g0264 a0003c0003t0005g0263	3	260	0.0115	-100	c.154 others(119): Show c.1540-1772_1540-1673delTGTGGGGGGACAGTGGTGAGTTGGGG GGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTAATGAGTCGGG GGACAGTGGTGAGTGGGCACAGTA	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15			chr2	TogoVar
MRNIP_chr5_179832276_179863817	179849531	GCACAGGC others(93): Show GCACAGGCAGATGGTAAGAGATGGAATTTGTGACCATGGGTCCTGCTATG GCACAGGCAGATGCTACGAGACGGAATTTGAGAGCATGGATCCTGCAATG A	G G	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	442	0.0023	-100	c.127 others(117): Show c.127-1565_127-1466delTCATTGCAGGATCCATGCTCTCAAATTC CGTCTCGTAGCATCTGCCTGTGCCATAGCAGGACCCATGGTCACAAATTC CATCTCTTACCATCTGCCTGTG	MRNIP	ENSG00000161010.16	transcript	ENST00000292586.11	protein_coding	2/6			chr5	TogoVar
MTUS2_chr13_28815339_29510947	29375515	CTATATAT others(93): Show CTATATATATATATATATATATACGTGTATATATATATATATACGTATAT ATATATATACATATATATATATACGTATATATATATATATATACGTATAT A	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02717.hp2 HG03041.hp2 others(8): Show HG01175.hp2 HG02717.hp2 HG03041.hp2 HG03195.hp2 HG03490.hp1 HG03516.hp1 NA18988.hp2 NA19030.hp2 NA19043.hp1 NA19084.hp1 NA19240.hp1	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0007	a0001c0001 a0004c0008 a0005c0006 others(1): Show a0001c0001 a0004c0008 a0005c0006 a0007c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0015 a0001c0001t0033 a0004c0008t0005 a0005c0006t0005 a0007c0004t0002 a0007c0004t0007	a0001c0001t0002g0084 a0001c0001t0003g0038 a0001c0001t0004g0045 others(8): Show a0001c0001t0002g0084 a0001c0001t0003g0038 a0001c0001t0004g0045 a0001c0001t0004g0046 a0001c0001t0012g0073 a0001c0001t0015g0026 a0001c0001t0033g0087 a0004c0008t0005g0072 a0005c0006t0005g0090 a0007c0004t0002g0013 a0007c0004t0007g0042	11	79	0.1392	-100	c.311 others(121): Show c.3117+16065_3117+16164delCGTGTATATATATATATATACGTA TATATATATATACATATATATATATACGTATATATATATATATATACGTA TATATATATATATATATATATATATA	MTUS2	ENSG00000132938.22	transcript	ENST00000612955.6	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr13	TogoVar
MUSK_chr9_110663791_110811558	110701675	ATTTTTTT others(93): Show ATTTTTTTTACTTTACTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA T	A A	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	311	0.0032	-100	c.628 others(117): Show c.628+4213_628+4312delTTTTTACTTTACTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MYDGF_chr19_4652545_4675342	4672249	ATATTCAT others(93): Show ATATTCATATATATGAATATATATATTAATATATTCATATATATATACTT ATATTCATATATTCATATATATACTTATATTCATATATTCATATATATAC T	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG03209.hp2 HG02055.hp2 HG03209.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0089 a0002c0002t0002g0096 a0002c0002t0002g0089 a0002c0002t0002g0096	2	400	0.0050	-100	c.-20 others(111): Show c.-2015_-1916delAGTATATATATGAATATATGAATATAAGTATATA TATGAATATATGAATATAAGTATATATATATGAATATATTAATATATATA TTCATATATATGAATA	MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding		1908		chr19	TogoVar
MYL10_chr7_101608330_101634296	101609707	CCCTCCCT others(93): Show CCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTGCCTTCCTCCCTCC CTCCCTTCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCT G	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(190): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01891.hp2 HG01928.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02148.hp1 HG02155.hp2 HG02165.hp1 HG02258.hp1 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp2 HG02738.hp2 HG02809.hp2 HG02965.hp2 HG02970.hp1 HG03017.hp2 HG03130.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18954.hp1 NA18955.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18990.hp2 NA18993.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp1 NA19012.hp1 NA19012.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp2 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19087.hp2 NA19088.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0008	a0001c0001 a0002c0003 a0003c0004 others(2): Show a0001c0001 a0002c0003 a0003c0004 a0004c0006 a0008c0012	a0001c0001t0001 a0001c0001t0002 a0002c0003t0002 others(3): Show a0001c0001t0001 a0001c0001t0002 a0002c0003t0002 a0003c0004t0001 a0004c0006t0001 a0008c0012t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(98): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0044 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0104 a0001c0001t0001g0115 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0133 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0002g0107 a0001c0001t0002g0108 a0002c0003t0002g0033 a0002c0003t0002g0057 a0002c0003t0002g0058 a0002c0003t0002g0059 a0002c0003t0002g0063 a0003c0004t0001g0031 a0003c0004t0001g0206 a0004c0006t0001g0103 a0008c0012t0001g0102	193	266	0.7256	-100	c.36 others(111): Show c.3668_*3767delCAGGGAGGGAGGAAGGGAGGGAGGGAGGAAGGCA GGGAGGGAGGAAGGGAGGGAGGGAGGAAGGCAGGGAGGGAGGAAGGGAGG GAGGGAGGAAGGGAGG	MYL10	ENSG00000106436.8	transcript	ENST00000223167.5	protein_coding		3622		chr7	TogoVar
MYO16_chr13_108624611_109213005	109008418	TCTATCTT others(93): Show TCTATCTTGTGTATGCACTACTGTACTATCTTGTGTATGCACTACTGTAC TATCTTGTGTATGCACTACTGTACTATCTATCTTGTGTATGCACTACTGT A	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02257.hp1 HG02280.hp1 others(5): Show HG01891.hp1 HG02257.hp1 HG02280.hp1 HG02723.hp2 HG02965.hp2 HG02976.hp2 HG03195.hp2 NA18906.hp2	a0001 a0006 a0011 others(1): Show a0001 a0006 a0011 a0021	a0001c0002 a0001c0022 a0001c0059 others(3): Show a0001c0002 a0001c0022 a0001c0059 a0006c0032 a0011c0018 a0021c0035	a0001c0002t0008 a0001c0002t0011 a0001c0022t0003 others(4): Show a0001c0002t0008 a0001c0002t0011 a0001c0022t0003 a0001c0059t0007 a0006c0032t0001 a0011c0018t0001 a0021c0035t0001	a0001c0002t0008g0068 a0001c0002t0011g0040 a0001c0022t0003g0066 others(5): Show a0001c0002t0008g0068 a0001c0002t0011g0040 a0001c0022t0003g0066 a0001c0059t0007g0048 a0006c0032t0001g0030 a0011c0018t0001g0134 a0011c0018t0001g0152 a0021c0035t0001g0146	8	150	0.0533	-100	c.244 others(117): Show c.2443-424_2443-325delTGTGTATGCACTACTGTACTATCTATCT TGTGTATGCACTACTGTACTATCTTGTGTATGCACTACTGTACTATCTTG TGTATGCACTACTGTACTATCT	MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	21/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
MYT1_chr20_64159452_64247253	64175874	TCTCCTGT others(93): Show TCTCCTGTAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCT TCTCCTGCAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT C	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	130	0.0077	-100	c.-99 others(119): Show c.-99+11138_-99+11237delCCTGTAGCATCTTTCCCTGTAGTTGT GTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCTAGTTGTGTC CATTTCCCCTCCCTGGCTTCTCCT	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYZAP_chr15_57586904_57690364	57687471	AATATGTG others(93): Show AATATGTGTGTACAATATACACATATATATGTGTGTACAATATACACATA TATATGTGTGTACAATATACACATATATATGTGTGTACAATATACACATA T	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp2 others(90): Show HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00438.hp1 HG00558.hp1 HG00609.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01123.hp2 HG01167.hp2 HG01192.hp1 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01496.hp1 HG01884.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG02015.hp1 HG02083.hp1 HG02132.hp2 HG02273.hp2 HG02300.hp1 HG02572.hp1 HG02602.hp1 HG02622.hp1 HG02647.hp1 HG02683.hp2 HG02698.hp2 HG02735.hp2 HG02895.hp1 HG02896.hp1 HG03017.hp2 HG03098.hp2 HG03139.hp1 HG03239.hp2 HG03471.hp2 HG03579.hp2 HG03654.hp1 HG03704.hp1 HG03704.hp2 HG03942.hp1 HG03942.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp2 NA18941.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18955.hp1 NA18956.hp2 NA18964.hp2 NA18971.hp2 NA18975.hp2 NA18978.hp2 NA18980.hp1 NA18981.hp2 NA18983.hp2 NA18995.hp1 NA18998.hp1 NA18999.hp2 NA19004.hp2 NA19007.hp1 NA19030.hp1 NA19056.hp1 NA19057.hp1 NA19063.hp1 NA19064.hp1 NA19068.hp2 NA19070.hp2 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19086.hp1 NA19087.hp1 NA19240.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0007 others(2): Show a0001c0001 a0001c0003 a0001c0007 a0002c0002 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0003t0002 a0001c0003t0003 a0001c0007t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0004t0001	a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 others(85): Show a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0178 a0001c0001t0001g0187 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0211 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0001g0228 a0001c0001t0001g0232 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0259 a0001c0001t0001g0267 a0001c0001t0001g0276 a0001c0001t0001g0280 a0001c0001t0001g0292 a0001c0001t0001g0298 a0001c0001t0001g0302 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0002g0153 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0315 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0322 a0001c0001t0002g0324 a0001c0001t0003g0311 a0001c0001t0003g0312 a0001c0001t0009g0201 a0001c0001t0009g0214 a0001c0003t0002g0003 a0001c0003t0002g0018 a0001c0003t0002g0019 a0001c0003t0002g0020 a0001c0003t0002g0021 a0001c0003t0002g0035 a0001c0003t0002g0038 a0001c0003t0002g0075 a0001c0003t0003g0118 a0001c0003t0003g0130 a0001c0003t0003g0131 a0001c0003t0003g0135 a0001c0003t0003g0136 a0001c0003t0003g0139 a0001c0003t0003g0147 a0001c0003t0003g0149 a0001c0003t0003g0150 a0001c0003t0003g0151 a0001c0003t0003g0154 a0001c0003t0003g0155 a0001c0003t0003g0156 a0001c0007t0003g0128 a0002c0002t0001g0335 a0002c0002t0002g0001 a0002c0002t0002g0005 a0002c0002t0002g0006 a0002c0002t0002g0040 a0002c0002t0002g0045 a0002c0002t0002g0073 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0097 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0108 a0002c0002t0005g0089 a0002c0004t0001g0204 a0002c0004t0001g0205 a0002c0004t0001g0297 a0002c0004t0001g0301	93	342	0.2719	-100	c.29 others(111): Show c.2974_*3073delATATGTGTGTACAATATACACATATATATGTGTG TACAATATACACATATATATGTGTGTACAATATACACATATATATGTGTG TACAATATACACATAT	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding		2108		chr15	TogoVar
NCBP2L_chrX_107772733_107800829	107782252	TATATATA others(93): Show TATATATATAAATATATATATATAAATATATATAAATATATATATATAAA TATATATATAAATATATATATATAAATATATATATAAATATATATATATA A	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02572.hp1 HG02886.hp2 others(5): Show HG02559.hp1 HG02572.hp1 HG02886.hp2 HG02970.hp1 HG02976.hp2 HG03453.hp2 HG03486.hp1 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0005 a0001c0002t0002 a0001c0002t0005	a0001c0002t0002g0038 a0001c0002t0002g0063 a0001c0002t0002g0064 others(5): Show a0001c0002t0002g0038 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0005g0217	8	296	0.0270	-100	c.-73 others(117): Show c.-73+4404_-73+4503delAATATATATATATAAATATATATAAATA TATATATATAAATATATATATAAATATATATATATAAATATATATATAAA TATATATATATAAATATATATA	NCBP2L	ENSG00000170935.8	transcript	ENST00000509000.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
NDUFA3_chr19_54097855_54112568	54101312	AGATAGAT others(93): Show AGATAGATGGATGGATGGATAGATAGATAGATAGATAGATAGATAGATAG ATAAAAATTAGCACCTGTTAAGTGCCAGGCCCTTGCTGTGATTGATTGAT G	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG01258.hp2 HG01261.hp2 others(3): Show HG01123.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01516.hp1 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	6	437	0.0137	-100	c.-15 others(111): Show c.-1566_-1467delGATAGATGGATGGATGGATAGATAGATAGATAGA TAGATAGATAGATAGATAAAAATTAGCACCTGTTAAGTGCCAGGCCCTTG CTGTGATTGATTGATG	NDUFA3	ENSG00000170906.16	transcript	ENST00000485876.6	protein_coding		1542		chr19	TogoVar
NEDD4L_chr18_58039226_58406539	58129965	ACTGTGAT others(93): Show ACTGTGATCTAGTGGAACTGTGGCGGTGTTGGGCTCTGTTGGGGTTTGGT TGACTGTGATCTAGTTGAACTGTGGCTATGTTGGGCTCTGTTGGAATATG G	A A	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	116	0.0086	-100	c.49- others(117): Show c.49-35759_49-35660delTTGAACTGTGGCTATGTTGGGCTCTGTT GGAATATGGCTGTGATCTAGTGGAACTGTGGCGGTGTTGGGCTCTGTTGG GGTTTGGTTGACTGTGATCTAG	NEDD4L	ENSG00000049759.20	transcript	ENST00000400345.8	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79525283	ACCTCTCA others(93): Show ACCTCTCAGTCCTCCCCACGTCCCACCGTCGTTACCCCTCAGTCCTCCCC ACGTCCCACCGTCGTTACCCCTCAGGCCTCCCCACGTCCCACCGTCGTTA C	A A	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0052 a0001c0004t0052	a0001c0004t0052g0087 a0001c0004t0052g0087	1	320	0.0031	-100	c.278 others(119): Show c.2783-2242_2783-2143delTCTCAGTCCTCCCCACGTCCCACCGT CGTTACCCCTCAGTCCTCCCCACGTCCCACCGTCGTTACCCCTCAGGCCT CCCCACGTCCCACCGTCGTTACCC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NLRP4_chr19_55831540_55886855	55849972	TAGCTGCG others(93): Show TAGCTGCGGTGTAATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGT GTGATTTCCGAGACTGCGGTGTGATTTCCGTAGCTGCGGTGGAATTTCCG A	T T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0014 a0014	a0014c0030 a0014c0030	a0014c0030t0007 a0014c0030t0007	a0014c0030t0007g0331 a0014c0030t0007g0331	1	268	0.0037	-100	c.-65 others(117): Show c.-65-2043_-65-1944delAGCTGCGGTGTAATTTCCGAGACTGCGG TGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCC GTAGCTGCGGTGGAATTTCCGA	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9			chr19	TogoVar
NLRP4_chr19_55831540_55886855	55850512	TGGCTGCG others(93): Show TGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAATGTCCGTGGCTGCGGT GTAATGTCCGTGGCTGCGGTGTAATTTCCGTGGCTGCGGTGTAATTTACG A	T T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0014 a0014	a0014c0030 a0014c0030	a0014c0030t0007 a0014c0030t0007	a0014c0030t0007g0331 a0014c0030t0007g0331	1	342	0.0029	-100	c.-65 others(117): Show c.-65-1484_-65-1385delTGGCTGCGGTGTAATGTCCGTGGCTGCG GTGTAATGTCCGTGGCTGCGGTGTAATTTCCGTGGCTGCGGTGTAATTTA CGAGGCTGCGGTGTAATGTCCG	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55850532	TGGCTGCG others(93): Show TGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAATGTCCGTGGCTGCGGT GTAATTTCCGTGGCTGCGGTGTAATTTACGAGGCTGCGGTGTAATGTCCG A	T T	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0083 a0002c0003t0004g0083	1	375	0.0027	-100	c.-65 others(117): Show c.-65-1464_-65-1365delTGGCTGCGGTGTAATGTCCGTGGCTGCG GTGTAATTTCCGTGGCTGCGGTGTAATTTACGAGGCTGCGGTGTAATGTC CGAGGCTGCGGTGTAATGTCCG	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55850587	TTCCGTGG others(93): Show TTCCGTGGCTGCGGTGTAATTTACGAGGCTGCGGTGTAATGTCCGAGGCT GCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAAT G	T T	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0269 a0002c0002t0002g0269	1	336	0.0030	-100	c.-65 others(117): Show c.-65-1411_-65-1312delATTTACGAGGCTGCGGTGTAATGTCCGA GGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGTGGCTGCGGTG TAATGTCCGTGGCTGCGGTGTA	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55850932	TGGCTGCG others(93): Show TGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGTGGCTGCGGT GTAATTTACGAGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAATGTCCG A	T T	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0001 a0004c0013t0001	a0004c0013t0001g0075 a0004c0013t0001g0075	1	340	0.0029	-100	c.-65 others(116): Show c.-65-1044_-65-945delTGGCTGCGGTGTAATTTACGAGGCTGCGG TGTAATGTCCGTGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCC GAGGCTGCGGTGTAATGTCCG	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55851092	TGGCTGCG others(93): Show TGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAATGTCCGAGGCTGCGGT GTAATTTACGAGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAATGTCCG A	T T	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0369 a0001c0001t0005g0369	1	306	0.0033	-100	c.-65 others(115): Show c.-65-849_-65-750delGTCCGTGGCTGCGGTGTAATGTCCGAGGCT GCGGTGTAATGTCCGTGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAAT TTACGAGGCTGCGGTGTAAT	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55851192	AGGCTGCG others(93): Show AGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAATGTCCGAGGCTGCGGT GTAATTTACGAGGCTGCGGTGTAATTTACGAGGCTGCGGTGTAATGTCCG T	A A	intron_variant intron_variant	MODIFIER	HG01993.hp2 NA18973.hp1 NA18990.hp1 others(2): Show HG01993.hp2 NA18973.hp1 NA18990.hp1 NA18993.hp1 NA19074.hp1	a0003 a0007 a0003 a0007	a0003c0008 a0007c0019 a0003c0008 a0007c0019	a0003c0008t0001 a0007c0019t0003 a0003c0008t0001 a0007c0019t0003	a0003c0008t0001g0003 a0003c0008t0001g0161 a0007c0019t0003g0206 a0003c0008t0001g0003 a0003c0008t0001g0161 a0007c0019t0003g0206	5	339	0.0147	-100	c.-65 others(115): Show c.-65-804_-65-705delTGGCTGCGGTGTAATGTCCGAGGCTGCGGT GTAATTTACGAGGCTGCGGTGTAATTTACGAGGCTGCGGTGTAATGTCCG TGGCTGCGGTGTAATGTCCG	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55851232	AGGCTGCG others(93): Show AGGCTGCGGTGTAATTTACGAGGCTGCGGTGTAATTTACGAGGCTGCGGT GTAATGTCCGTGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCG T	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01099.hp2 HG01934.hp1 others(11): Show HG00558.hp2 HG01099.hp2 HG01934.hp1 HG01943.hp2 HG02148.hp1 HG03540.hp1 NA18954.hp1 NA18969.hp2 NA18971.hp2 NA18973.hp2 NA18975.hp1 NA19007.hp1 NA19058.hp1 NA19067.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0005 a0001c0006 others(3): Show a0001c0001 a0001c0005 a0001c0006 a0002c0002 a0004c0004 a0005c0010	a0001c0001t0003 a0001c0005t0001 a0001c0006t0003 others(5): Show a0001c0001t0003 a0001c0005t0001 a0001c0006t0003 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0004c0004t0001 a0005c0010t0027	a0001c0001t0003g0178 a0001c0001t0003g0190 a0001c0005t0001g0255 others(11): Show a0001c0001t0003g0178 a0001c0001t0003g0190 a0001c0005t0001g0255 a0001c0006t0003g0213 a0002c0002t0002g0239 a0002c0002t0002g0242 a0002c0002t0002g0256 a0002c0002t0003g0191 a0002c0002t0003g0192 a0002c0002t0003g0207 a0002c0002t0004g0062 a0002c0002t0004g0141 a0004c0004t0001g0040 a0005c0010t0027g0074	14	304	0.0461	-100	c.-65 others(115): Show c.-65-769_-65-670delTTACGAGGCTGCGGTGTAATTTACGAGGCT GCGGTGTAATGTCCGTGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAAT GTCCGTGGCTGCGGTGTAAT	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55851329	CCGTGGCT others(93): Show CCGTGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAATGTCCGAGGCTGC GGTGTAATGTCCGAGGCTGCGGTGTAATTTACGAGGCTGCGGTGTAATTT A	C C	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0374 a0002c0003t0008g0374	1	409	0.0024	-100	c.-65 others(115): Show c.-65-684_-65-585delTGGCTGCGGTGTAATGTCCGTGGCTGCGGT GTAATGTCCGAGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATTTACG AGGCTGCGGTGTAATTTACG	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55851392	AGGCTGCG others(93): Show AGGCTGCGGTGTAATTTACGAGGCTGCGGTGTAATTTACGAGGCTGCGGT GTAATGTCCGTGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCG T	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0012 a0001c0005t0009g0012	1	370	0.0027	-100	c.-65 others(115): Show c.-65-609_-65-510delTTACGAGGCTGCGGTGTAATTTACGAGGCT GCGGTGTAATGTCCGTGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAAT GTCCGTGGCTGCGGTGTAAT	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55851407	TTACGAGG others(93): Show TTACGAGGCTGCGGTGTAATTTACGAGGCTGCGGTGTAATGTCCGTGGCT GCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAAT G	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0009 a0002c0009t0009	a0002c0009t0009g0230 a0002c0009t0009g0230	1	313	0.0032	-100	c.-65 others(115): Show c.-65-607_-65-508delACGAGGCTGCGGTGTAATTTACGAGGCTGC GGTGTAATGTCCGTGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATGT CCGTGGCTGCGGTGTAATGT	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NOS3_chr7_150986017_151019588	150987144	TACAAAAA others(93): Show TACAAAAAAATTAGCTGGGCTTGATGGCGGGAGCCTGTAGTCCCAGCTAC TCGGGAGGCTGAGGCAGGAGAATGACGTGAACCCGGGAGGCGGAGCTTGC A	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	380	0.0026	-100	c.-42 others(111): Show c.-4207_-4108delACAAAAAAATTAGCTGGGCTTGATGGCGGGAGCC TGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGACGTGAACCCG GGAGGCGGAGCTTGCA	NOS3	ENSG00000164867.11	transcript	ENST00000297494.8	protein_coding		3872		chr7	TogoVar
OR2T2_chr1_248440637_248460725	248446506	AGATGGGC others(93): Show AGATGGGCTCGCCTCGCCTCACCTCGCCTCTGCTGCTCCTGTGTAATCCT CCATTCCCTTACTCTCCATTTCCTCTTCCACAGCGTTAGCAGGGTGGACT G	A A	splice_acceptor_variant others(3): Show splice_acceptor_variant splice_region_variant 5_prime_UTR_variant intron_variant	HIGH	HG01891.hp1 HG02055.hp1 HG02145.hp1 others(5): Show HG01891.hp1 HG02055.hp1 HG02145.hp1 HG02451.hp1 HG02559.hp1 HG03130.hp1 HG03139.hp1 HG03225.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0007 a0003c0004t0018 a0003c0004t0007 a0003c0004t0018	a0003c0004t0007g0021 a0003c0004t0007g0098 a0003c0004t0007g0099 others(3): Show a0003c0004t0007g0021 a0003c0004t0007g0098 a0003c0004t0007g0099 a0003c0004t0007g0100 a0003c0004t0007g0101 a0003c0004t0018g0102	8	328	0.0244	-100	c.-44 others(112): Show c.-444-75_-420delTCGCCTCGCCTCACCTCGCCTCTGCTGCTCCTG TGTAATCCTCCATTCCCTTACTCTCCATTTCCTCTTCCACAGCGTTAGCA GGGTGGACTGGATGGGC	OR2T2	ENSG00000196240.6	transcript	ENST00000641925.2	protein_coding	2/4	6185	INFO_REALIGN_3_PRIME	chr1	TogoVar
OSCAR_chr19_54089668_54105803	54101312	AGATAGAT others(93): Show AGATAGATGGATGGATGGATAGATAGATAGATAGATAGATAGATAGATAG ATAAAAATTAGCACCTGTTAAGTGCCAGGCCCTTGCTGTGATTGATTGAT G	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01123.hp1 HG01257.hp1 others(5): Show HG00639.hp2 HG01123.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01516.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0217 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0232 a0001c0001t0002g0247	8	441	0.0181	-100	c.-62 others(109): Show c.-620_-521delCATCAATCAATCACAGCAAGGGCCTGGCACTTAACA GGTGCTAATTTTTATCTATCTATCTATCTATCTATCTATCTATCTATCCA TCCATCCATCTATC	OSCAR	ENSG00000170909.14	transcript	ENST00000358375.9	protein_coding		510		chr19	TogoVar
OSTF1_chr9_75083514_75152265	75128481	TATATATA others(93): Show TATATATATATATATTTTGTCCATATATATATATATATATTTTGTCCATA TATATATATATATATTTTGTCCATATATATATATATATATATATTTTGTC C	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0255 a0001c0001t0003g0255	1	360	0.0028	-100	c.132 others(115): Show c.132+877_132+976delTTTGTCCATATATATATATATATATTTTGT CCATATATATATATATATATTTTGTCCATATATATATATATATATATATT TTGTCCATATATATATATAT	OSTF1	ENSG00000134996.12	transcript	ENST00000346234.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
OTUD7A_chr15_31470398_31875673	31510505	TACATATA others(93): Show TACATATATATGTATATCTATATGTAACATACATATGTATATCTATATGT AACATACATATGTATATCTATATGTAACATACATATGTATATCTATATGT A	T T	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0141 a0002c0003t0003g0141	1	241	0.0041	-100	c.894 others(117): Show c.894-6787_894-6688delTACATATAGATATACATATGTATGTTAC ATATAGATATACATATGTATGTTACATATAGATATACATATGTATGTTAC ATATAGATATACATATATATGT	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
P2RY12_chr3_151331843_151389753	151368604	TATTTTAT others(93): Show TATTTTATTTTATTTTATTTTATTTTATTTCATTTCATTTCATTTCATTT CATTTCATTTCATTTCATTTCATGTCATTTCATTTTATTTCATTTCATTT C	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	344	0.0029	-100	c.-18 others(121): Show c.-180+15988_-180+16087delGAAATGAAATGAAATAAAATGAAA TGACATGAAATGAAATGAAATGAAATGAAATGAAATGAAATGAAATGAAA TAAAATAAAATAAAATAAAATAAAAT	P2RY12	ENSG00000169313.10	transcript	ENST00000302632.4	protein_coding	1/2			chr3	TogoVar
PACRG_chr6_162722974_163320500	163269849	GAAAGAAA others(93): Show GAAAGAAAGAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAACAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAACAAAGAAAGAAAGAAAGA A	G G	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG02976.hp2 HG01517.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0103 a0001c0001t0008g0073 a0001c0001t0001g0103 a0001c0001t0008g0073	2	94	0.0213	-100	c.614 others(119): Show c.614-44976_614-44877delAAGAAAGAGAAAGAAAGAGAAAGAAA GAAAGAAAGAAAGAAAACAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAACAAAGAAAGAAAGAAAGAAA	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	163269853	GAAAGAGA others(93): Show GAAAGAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAACAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAACAAAGAAAGAAAGAAAGAAAGA A	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02258.hp1 HG02809.hp1 others(2): Show HG02055.hp2 HG02258.hp1 HG02809.hp1 HG02895.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0004 a0001c0001t0001g0038 a0001c0001t0002g0048 others(2): Show a0001c0001t0001g0004 a0001c0001t0001g0038 a0001c0001t0002g0048 a0001c0001t0003g0028 a0001c0001t0003g0120	5	116	0.0431	-100	c.614 others(119): Show c.614-44972_614-44873delAAGAGAAAGAAAGAGAAAGAAAGAAA GAAAGAAAGAAAACAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAA CAAAGAAAGAAAGAAAGAAAGAAA	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACS1_chr11_66065272_66249744	66178149	AATAACCT others(93): Show AATAACCTACCACCCAATTTAAGAAAATTAATTTAATTATCAGGAGTTCC TTGTATGACCTTTTTTCTCATTCCTTTCCCTTCTTCTCAGAAGTAACTGC T	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0321 a0001c0001t0001g0321	1	320	0.0031	-100	c.357 others(119): Show c.357-15334_357-15235delAACCTACCACCCAATTTAAGAAAATT AATTTAATTATCAGGAGTTCCTTGTATGACCTTTTTTCTCATTCCTTTCC CTTCTTCTCAGAAGTAACTGCTAT	PACS1	ENSG00000175115.13	transcript	ENST00000320580.9	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PAH_chr12_102831889_102922244	102868088	GTATATAT others(93): Show GTATATATATATATATACACATATATATACATATATGTGTATATATATAT ATATATATATATATATACACATATATATACATATATGTGTATATATATAT A	G G	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02896.hp2 HG02723.hp1 HG02896.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0004 a0001c0006t0002 a0001c0006t0004	a0001c0006t0002g0206 a0001c0006t0004g0292 a0001c0006t0002g0206 a0001c0006t0004g0292	2	243	0.0082	-100	c.442 others(117): Show c.442-1525_442-1426delTATATATATATACACATATATGTATATA TATGTGTATATATATATATATATATATATATATACACATATATGTATATA TATGTGTATATATATATATATA	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	4/12			chr12	TogoVar
PAQR5_chr15_69293912_69412780	69300833	TTAGTTCG others(93): Show TTAGTTCGTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTCCTTCCTTCCTTCCTTCCTTTCTCTCTCTCTCTCTCT C	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA18991.hp1 NA20129.hp2 HG02559.hp2 NA18991.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0284 a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0284	3	271	0.0111	-100	c.-27 others(119): Show c.-277+1779_-277+1878delAGTTCGTTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCCTTCCTTCCTTCCT TCCTTTCTCTCTCTCTCTCTCTCT	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69300837	TTCGTTTT others(93): Show TTCGTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTCCTTCCTTCCTTCCTTCCTTTCTCTCTCTCTCTCTCTCTCT C	T T	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	282	0.0035	-100	c.-27 others(119): Show c.-277+1784_-277+1883delGTTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCCTTCCTTCCTTCCTTCCTT TCTCTCTCTCTCTCTCTCTCTCTC	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PCBP3_chr21_45638725_45947450	45815617	GTGAGTGA others(93): Show GTGAGTGATGAGTGGTGAGTGGTGAGTGAGTGGTGAGTGGTGAGTGGTGA GTGATGAGTGAGTGGTGAGTGAGTGGTGAGTGAGTGGTGAGTAGTGAGTG A	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp1 HG00558.hp1 others(58): Show HG00323.hp2 HG00438.hp1 HG00558.hp1 HG00639.hp2 HG00673.hp1 HG01069.hp1 HG01070.hp2 HG01081.hp2 HG01175.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01361.hp1 HG01516.hp2 HG01891.hp1 HG01975.hp1 HG01981.hp2 HG02015.hp1 HG02040.hp2 HG02055.hp2 HG02257.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp2 HG02922.hp2 HG02970.hp1 HG03017.hp1 HG03098.hp1 HG03490.hp2 HG03492.hp1 HG03540.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG04115.hp2 HG04184.hp2 HG04204.hp2 NA18941.hp2 NA18946.hp2 NA18955.hp2 NA18959.hp1 NA18962.hp1 NA18969.hp1 NA18983.hp2 NA19002.hp1 NA19007.hp2 NA19009.hp2 NA19012.hp2 NA19056.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp2 NA19091.hp1 NA20129.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0018 a0001c0001t0019 a0001c0001t0024 a0001c0003t0014	a0001c0001t0002g0224 a0001c0001t0002g0226 a0001c0001t0002g0227 others(57): Show a0001c0001t0002g0224 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0236 a0001c0001t0002g0238 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0246 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0271 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0003g0218 a0001c0001t0003g0262 a0001c0001t0005g0001 a0001c0001t0005g0272 a0001c0001t0005g0278 a0001c0001t0005g0279 a0001c0001t0005g0285 a0001c0001t0005g0291 a0001c0001t0007g0235 a0001c0001t0007g0239 a0001c0001t0007g0244 a0001c0001t0007g0245 a0001c0001t0007g0259 a0001c0001t0018g0265 a0001c0001t0019g0225 a0001c0001t0024g0237 a0001c0003t0014g0289 a0001c0003t0014g0290	61	286	0.2133	-100	c.-12 others(121): Show c.-125-34337_-125-34238delATGAGTGGTGAGTGGTGAGTGAGT GGTGAGTGGTGAGTGGTGAGTGATGAGTGAGTGGTGAGTGAGTGGTGAGT GAGTGGTGAGTAGTGAGTGATGAGTG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCGF3_chr4_700832_775089	731897	TCCCCCTC others(93): Show TCCCCCTCCCCTCGTGGGTGGGCGTGGTCCTCAGGGGCGTAGGGCGGGGC TCCCCCTCCCCTCGTGGGTGGGCGTGGTCCTCAGGGGCGTAGGGCGGGGC T	T T	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0052 a0001c0001t0058g0052	1	304	0.0033	-100	c.-10 others(115): Show c.-10+792_-10+891delCTCCCCTCGTGGGTGGGCGTGGTCCTCAGG GGCGTAGGGCGGGGCTCCCCCTCCCCTCGTGGGTGGGCGTGGTCCTCAGG GGCGTAGGGCGGGGCTCCCC	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDCD1_chr2_241844884_241863894	241847434	ATGAGAGA others(93): Show ATGAGAGACGTGAGTTCTGGACGCTGGCGCGCTGCGCTGTCAATGGATGA ATGAGAGCCTTGAGTTCTGGATGCTGGCGCGCTGCGCTGTGAATGGGTGT T	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0122 a0001c0001t0016g0122	1	406	0.0025	-100	c.35 others(111): Show c.3524_*3623delAACACCCATTCACAGCGCAGCGCGCCAGCATCCA GAACTCAAGGCTCTCATTCATCCATTGACAGCGCAGCGCGCCAGCGTCCA GAACTCACGTCTCTCA	PDCD1	ENSG00000188389.11	transcript	ENST00000334409.10	protein_coding		2449		chr2	TogoVar
PDCD1_chr2_241844884_241863894	241847643	TTGAGTTC others(93): Show TTGAGTTCTGGATGCTGGCGCGCTGCGCTGTGAATGGGTGTATGAGAGCC TTGAGTTCTGGATGCTGGTGCGCTGCGCTGTCAATGGATGAATGAGAGCC G	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0122 a0001c0001t0016g0122	1	406	0.0025	-100	c.33 others(111): Show c.3315_*3414delCGGCTCTCATTCATCCATTGACAGCGCAGCGCAC CAGCATCCAGAACTCAAGGCTCTCATACACCCATTCACAGCGCAGCGCGC CAGCATCCAGAACTCA	PDCD1	ENSG00000188389.11	transcript	ENST00000334409.10	protein_coding		2240		chr2	TogoVar
PDCD1_chr2_241844884_241863894	241847793	TTGAGTTC others(93): Show TTGAGTTCTGGATGCTGGCGCGCTGCGCTGTCAGTGGATGAATGAGAGAC GTGAGTTCTGGATGCTAGCGCGCTGCGCTGTCAATGGATGAATGAGAGCC G	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG03041.hp1 HG03486.hp2 others(1): Show HG01496.hp1 HG03041.hp1 HG03486.hp2 HG03579.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0008 a0001c0001 a0003c0008	a0001c0001t0001 a0003c0008t0001 a0001c0001t0001 a0003c0008t0001	a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0050 others(1): Show a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0050 a0003c0008t0001g0049	4	406	0.0099	-100	c.31 others(111): Show c.3165_*3264delCGGCTCTCATTCATCCATTGACAGCGCAGCGCGC TAGCATCCAGAACTCACGTCTCTCATTCATCCACTGACAGCGCAGCGCGC CAGCATCCAGAACTCA	PDCD1	ENSG00000188389.11	transcript	ENST00000334409.10	protein_coding		2090		chr2	TogoVar
PDCD1_chr2_241844884_241863894	241848073	TGAATGGG others(93): Show TGAATGGGTGTATGAGAGCCTTGAGTTCTGGATGCTGGCGCGCTGCGCTG TGAATGGGTGTTTGAGAGCCTTGAGTTCTGGATGCTGGCGCGCTGCGCTG A	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp2 HG02004.hp2 HG03209.hp1 others(3): Show HG01168.hp2 HG02004.hp2 HG03209.hp1 NA18942.hp1 NA18962.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0088 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0088	6	406	0.0148	-100	c.28 others(111): Show c.2885_*2984delTCAGCGCAGCGCGCCAGCATCCAGAACTCAAGGC TCTCAAACACCCATTCACAGCGCAGCGCGCCAGCATCCAGAACTCAAGGC TCTCATACACCCATTC	PDCD1	ENSG00000188389.11	transcript	ENST00000334409.10	protein_coding		1810		chr2	TogoVar
PDCD1_chr2_241844884_241863894	241848768	TGCTGTGA others(93): Show TGCTGTGAATGGGTGTTTGAGAGCCTTGAGTTCTGGATGCTGGCGCGCTG CGCTGTCAGTGGATGAATGAGAGCCGTGAGTTCTGGATGCTGGCGCGCTG C	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02109.hp1 HG02615.hp2 others(3): Show HG02055.hp2 HG02109.hp1 HG02615.hp2 HG02818.hp2 HG02897.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0007 a0001c0009t0015 a0001c0001t0007 a0001c0009t0015	a0001c0001t0007g0037 a0001c0001t0007g0063 a0001c0001t0007g0067 others(2): Show a0001c0001t0007g0037 a0001c0001t0007g0063 a0001c0001t0007g0067 a0001c0001t0007g0098 a0001c0009t0015g0102	6	313	0.0192	-100	c.21 others(111): Show c.2190_*2289delGCAGCGCGCCAGCATCCAGAACTCACGGCTCTCA TTCATCCACTGACAGCGCAGCGCGCCAGCATCCAGAACTCAAGGCTCTCA AACACCCATTCACAGC	PDCD1	ENSG00000188389.11	transcript	ENST00000334409.10	protein_coding		1115		chr2	TogoVar
PDE11A_chr2_177618244_178077777	177946040	CGGGAGGG others(93): Show CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCC GGGATGGAGGTGGGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTC T	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02055.hp1 HG02486.hp2 others(7): Show HG00735.hp2 HG02055.hp1 HG02486.hp2 HG02818.hp2 HG02922.hp2 HG02970.hp2 HG03453.hp2 HG03516.hp1 HG03516.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0005 a0001c0009 others(2): Show a0001c0003 a0001c0005 a0001c0009 a0002c0015 a0002c0034	a0001c0003t0049 a0001c0003t0052 a0001c0005t0015 others(7): Show a0001c0003t0049 a0001c0003t0052 a0001c0005t0015 a0001c0005t0047 a0001c0005t0064 a0001c0009t0016 a0001c0009t0027 a0001c0009t0062 a0002c0015t0001 a0002c0034t0006	a0001c0003t0049g0143 a0001c0003t0052g0029 a0001c0005t0015g0012 others(7): Show a0001c0003t0049g0143 a0001c0003t0052g0029 a0001c0005t0015g0012 a0001c0005t0047g0018 a0001c0005t0064g0016 a0001c0009t0016g0011 a0001c0009t0027g0001 a0001c0009t0062g0008 a0002c0015t0001g0013 a0002c0034t0006g0169	10	162	0.0617	-100	c.107 others(121): Show c.1072-40953_1072-40854delAGACGGGGCGGCTGGCCGGGCGGA GGGCTGACCCCCCCCCACCTCCATCCCGGACGGGGCGGCTGGCCAGGCGG GGGGCTGACCCCCCCACCTCCCTCCC	PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	2/19			chr2	TogoVar
PDE6B_chr4_620573_675782	622699	ACAGGTGC others(93): Show ACAGGTGCATGTCACAGGTGTGTCTCACAGGTGCATGTCACAGGTGCGTC TCACATGTGTGTCTCACAGGTGCATCTCACGTGTTTCTCACAGGTGCGTC T	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0034 a0001c0001t0012g0034	1	306	0.0033	-100	c.-29 others(111): Show c.-2927_-2828delCAGGTGCATGTCACAGGTGTGTCTCACAGGTGCA TGTCACAGGTGCGTCTCACATGTGTGTCTCACAGGTGCATCTCACGTGTT TCTCACAGGTGCGTCT	PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding		2873		chr4	TogoVar
PDE9A_chr21_42648621_42780509	42776416	TTGATTTC others(93): Show TTGATTTCTACACCCCTTCTTGTTTCTGCTTTTGTTTTTCATTTGAATCC TATTAAAGCCAATAGATATGGCAACGTTGGCAAAAATAGAAGCAAAACGT A	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0160 a0001c0002t0001g0160	1	322	0.0031	-100	c.11 others(111): Show c.1124_*1223delTGATTTCTACACCCCTTCTTGTTTCTGCTTTTGT TTTTCATTTGAATCCTATTAAAGCCAATAGATATGGCAACGTTGGCAAAA ATAGAAGCAAAACGTA	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding		908		chr21	TogoVar
PFKFB3_chr10_6197932_6240532	6210533	TGTGTTTT others(93): Show TGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGATAGTCTTGAT AGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGATAGTCTTGAT A	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02109.hp2 HG02258.hp1 others(4): Show HG01243.hp2 HG02109.hp2 HG02258.hp1 HG02280.hp2 HG02818.hp1 HG03453.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0013 a0001c0001t0026 a0001c0001t0048 others(4): Show a0001c0001t0013 a0001c0001t0026 a0001c0001t0048 a0001c0002t0026 a0001c0002t0030 a0001c0002t0044 a0001c0002t0045	a0001c0001t0013g0207 a0001c0001t0026g0021 a0001c0001t0048g0022 others(4): Show a0001c0001t0013g0207 a0001c0001t0026g0021 a0001c0001t0048g0022 a0001c0002t0026g0020 a0001c0002t0030g0034 a0001c0002t0044g0019 a0001c0002t0045g0023	7	324	0.0216	-100	c.77- others(115): Show c.77-2813_77-2714delATGTTAGCCAGGATAGTCTTGATAGTGTTT TTAATAGACGGGGTTTCGCCATGTTAGCCAGGATAGTCTTGATAGTGTTT TTAATAGACGGGGTTTCGCC	PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar

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