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
AKAP17A_chrX_1586604_1607520	1588802	C C	CTCCCCTC others(35): Show CTCCCCTCTCCTCCCCCTTCGCCTCCCCTCCCCTCCCTTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0063 a0002c0002t0015g0063	1	144	0.0069	42	c.-29 others(53): Show c.-2987_-2986insTCCCCTCTCCTCCCCCTTCGCCTCCCCTCCCCTC CCTTCCCT	AKAP17A	ENSG00000197976.12	transcript	ENST00000313871.9	protein_coding		2801		chrX	TogoVar
AKAP3_chr12_4610518_4654051	4624809	G G	GGTGTGTG others(35): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0299 a0001c0002t0002g0299	1	206	0.0049	42	c.240 others(61): Show c.2406+1686_2406+1687insACACACACACACACACACACACACAC ACACACACACACACAC	AKAP3	ENSG00000111254.8	transcript	ENST00000228850.6	protein_coding	5/5			chr12	TogoVar
AKAP6_chr14_32324298_32842684	32361053	C C	CATATATA others(35): Show CATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02074.hp1 HG01981.hp1 HG02074.hp1	a0004 a0008 a0004 a0008	a0004c0007 a0008c0014 a0004c0007 a0008c0014	a0004c0007t0022 a0008c0014t0028 a0004c0007t0022 a0008c0014t0028	a0004c0007t0022g0022 a0008c0014t0028g0021 a0004c0007t0022g0022 a0008c0014t0028g0021	2	124	0.0161	42	c.-35 others(61): Show c.-35+31648_-35+31649insTATATATATATATATATATATATATA TATATATATATATATA	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32404691	G G	GATAGATA others(35): Show GATAGATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG01891.hp1 HG00099.hp1 HG00140.hp2 HG01891.hp1	a0003 a0009 a0014 a0003 a0009 a0014	a0003c0009 a0009c0047 a0014c0029 a0003c0009 a0009c0047 a0014c0029	a0003c0009t0009 a0009c0047t0003 a0014c0029t0029 a0003c0009t0009 a0009c0047t0003 a0014c0029t0029	a0003c0009t0009g0092 a0009c0047t0003g0031 a0014c0029t0029g0060 a0003c0009t0009g0092 a0009c0047t0003g0031 a0014c0029t0029g0060	3	15	0.2000	42	c.-34 others(61): Show c.-34-28766_-34-28765insGATATATATATATATATATATATATA TATATATATATATATA	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32811255	A A	AAAAAAAA others(35): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0037 a0002c0003t0002g0037	1	67	0.0149	42	c.358 others(63): Show c.3589-10146_3589-10145insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAATA	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP7_chr6_131130467_131288532	131241627	G G	GTATACGT others(35): Show GTATACGTATATATATGTGTGTGTGTGTGTGTGTGTGTGTATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01993.hp2 HG02698.hp2 others(7): Show HG00280.hp1 HG01993.hp2 HG02698.hp2 HG03654.hp2 NA18950.hp1 NA18959.hp1 NA18999.hp2 NA19006.hp2 NA19056.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006	a0001c0001t0001g0020 a0001c0001t0001g0030 a0001c0001t0003g0040 others(7): Show a0001c0001t0001g0020 a0001c0001t0001g0030 a0001c0001t0003g0040 a0001c0001t0003g0045 a0001c0001t0003g0050 a0001c0001t0003g0054 a0001c0001t0003g0106 a0001c0001t0004g0169 a0001c0001t0004g0202 a0001c0001t0006g0254	10	121	0.0826	42	c.850 others(61): Show c.850+21823_850+21824insCGTATATATATGTGTGTGTGTGTGTG TGTGTGTGTATATATA	AKAP7	ENSG00000118507.19	transcript	ENST00000431975.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
AKAP7_chr6_131130467_131288532	131241627	G G	GTGTATAC others(35): Show GTGTATACGTATATATATGTGTGTGTGTGTGTGTGTGTGTATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02257.hp1 HG01884.hp1 HG02257.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0003 a0002c0002t0015g0004 a0002c0002t0015g0003 a0002c0002t0015g0004	2	113	0.0177	42	c.850 others(61): Show c.850+21820_850+21821insGTATACGTATATATATGTGTGTGTGT GTGTGTGTGTGTATAT	AKAP7	ENSG00000118507.19	transcript	ENST00000431975.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
AKT1_chr14_104764349_104800748	104779614	G G	GGCCCAGA others(35): Show GGCCCAGAGAACCCCGCCTAGCCAGCCTCGGCCTCGGGACTCA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01358.hp1 others(22): Show HG01167.hp2 HG01169.hp2 HG01358.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp2 HG02451.hp2 HG02486.hp2 HG02622.hp1 HG02717.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03471.hp1 HG03486.hp1 HG03579.hp2 NA18522.hp2 NA18906.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0011	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0003t0003 a0001c0004t0009 a0001c0006t0002 a0001c0007t0003 a0001c0011t0003	a0001c0001t0002g0203 a0001c0001t0003g0201 a0001c0001t0003g0217 others(17): Show a0001c0001t0002g0203 a0001c0001t0003g0201 a0001c0001t0003g0217 a0001c0001t0004g0197 a0001c0001t0004g0205 a0001c0001t0004g0207 a0001c0001t0004g0208 a0001c0003t0003g0016 a0001c0003t0003g0018 a0001c0003t0003g0034 a0001c0003t0003g0234 a0001c0003t0003g0240 a0001c0003t0003g0244 a0001c0003t0003g0306 a0001c0004t0009g0232 a0001c0006t0002g0281 a0001c0006t0002g0282 a0001c0007t0003g0249 a0001c0007t0003g0276 a0001c0011t0003g0209	25	173	0.1445	42	c.175 others(57): Show c.175+473_175+474insTGAGTCCCGAGGCCGAGGCTGGCTAGGCGG GGTTCTCTGGGC	AKT1	ENSG00000142208.18	transcript	ENST00000649815.2	protein_coding	4/14			chr14	TogoVar
AKT1_chr14_104764349_104800748	104779614	G G	GGCCCAGA others(35): Show GGCCCAGAGACCCCCGCCTAGCCAGCCTCGGCCTCGGGACTCA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp2 HG00558.hp1 others(207): Show HG00323.hp2 HG00438.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02572.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp2 HG03669.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18956.hp1 NA18959.hp2 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18969.hp1 NA18970.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18983.hp1 NA18985.hp2 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19066.hp1 NA19068.hp2 NA19074.hp2 NA19077.hp1 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19084.hp2 NA19085.hp1 NA19087.hp2 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0001t0013 a0001c0002t0001 a0001c0002t0014 a0001c0002t0018 a0001c0003t0003 a0001c0004t0001 a0001c0004t0009 a0001c0005t0001 a0001c0005t0020 a0001c0006t0002 a0001c0008t0001 a0001c0010t0001	a0001c0001t0001g0021 a0001c0001t0001g0035 a0001c0001t0001g0037 others(160): Show a0001c0001t0001g0021 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0057 a0001c0001t0001g0063 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0086 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0123 a0001c0001t0001g0136 a0001c0001t0001g0142 a0001c0001t0001g0157 a0001c0001t0001g0165 a0001c0001t0001g0188 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0001g0220 a0001c0001t0001g0226 a0001c0001t0001g0233 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0245 a0001c0001t0001g0265 a0001c0001t0001g0268 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0002g0044 a0001c0001t0002g0115 a0001c0001t0002g0200 a0001c0001t0002g0206 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0242 a0001c0001t0002g0274 a0001c0001t0002g0284 a0001c0001t0002g0302 a0001c0001t0002g0305 a0001c0001t0002g0307 a0001c0001t0003g0285 a0001c0001t0004g0045 a0001c0001t0004g0177 a0001c0001t0004g0239 a0001c0001t0004g0275 a0001c0001t0004g0279 a0001c0001t0004g0297 a0001c0001t0005g0038 a0001c0001t0005g0107 a0001c0001t0005g0223 a0001c0001t0005g0224 a0001c0001t0006g0158 a0001c0001t0006g0175 a0001c0001t0006g0291 a0001c0001t0012g0273 a0001c0001t0013g0250 a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0014 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0022 a0001c0002t0001g0041 a0001c0002t0001g0043 a0001c0002t0001g0046 a0001c0002t0001g0050 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0058 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0065 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0088 a0001c0002t0001g0092 a0001c0002t0001g0094 a0001c0002t0001g0096 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0106 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0119 a0001c0002t0001g0122 a0001c0002t0001g0132 a0001c0002t0001g0135 a0001c0002t0001g0143 a0001c0002t0001g0159 a0001c0002t0001g0164 a0001c0002t0001g0185 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0246 a0001c0002t0001g0253 a0001c0002t0001g0254 a0001c0002t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0258 a0001c0002t0001g0272 a0001c0002t0001g0286 a0001c0002t0001g0290 a0001c0002t0001g0292 a0001c0002t0001g0293 a0001c0002t0001g0294 a0001c0002t0014g0163 a0001c0002t0018g0118 a0001c0003t0003g0230 a0001c0004t0001g0047 a0001c0004t0001g0204 a0001c0004t0001g0241 a0001c0004t0001g0283 a0001c0004t0001g0301 a0001c0004t0009g0231 a0001c0005t0001g0128 a0001c0005t0001g0179 a0001c0005t0001g0216 a0001c0005t0001g0287 a0001c0005t0020g0072 a0001c0006t0002g0248 a0001c0008t0001g0040 a0001c0010t0001g0105	210	358	0.5866	42	c.175 others(57): Show c.175+473_175+474insTGAGTCCCGAGGCCGAGGCTGGCTAGGCGG GGGTCTCTGGGC	AKT1	ENSG00000142208.18	transcript	ENST00000649815.2	protein_coding	4/14			chr14	TogoVar
AKT3_chr1_243494724_243855243	243535174	A A	AATTTTAA others(35): Show AATTTTAAAATATATTTAAAATTTTAAAATAATTTTAAAATAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01884.hp2 HG02486.hp2 others(10): Show HG01261.hp1 HG01884.hp2 HG02486.hp2 HG02622.hp1 HG02647.hp1 HG02717.hp2 HG02809.hp1 HG02818.hp1 HG02922.hp1 HG03139.hp2 HG03195.hp2 HG03540.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0026 a0001c0001t0042 others(2): Show a0001c0001t0005 a0001c0001t0026 a0001c0001t0042 a0001c0001t0044 a0001c0001t0050	a0001c0001t0005g0285 a0001c0001t0005g0289 a0001c0001t0005g0290 others(10): Show a0001c0001t0005g0285 a0001c0001t0005g0289 a0001c0001t0005g0290 a0001c0001t0005g0292 a0001c0001t0005g0294 a0001c0001t0005g0295 a0001c0001t0005g0296 a0001c0001t0005g0297 a0001c0001t0005g0299 a0001c0001t0026g0136 a0001c0001t0042g0165 a0001c0001t0044g0058 a0001c0001t0050g0298	13	294	0.0442	42	c.125 others(63): Show c.1251+10335_1251+10336insATATTTTAAAATTATTTTAAAATT TTAAATATATTTTAAAAT	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
ALAD_chr9_113381312_113406284	113381412	C C	CCTCCCTC others(35): Show CCTCCCTCCCTCCCTCTCTCTCTCCCTCCCTCCCTCTCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0003	1	79	0.0127	42	c.68 others(53): Show c.6887_*6888insAGAGAGAGAGGGAGGGAGGGAGAGAGAGAGGGAG GGAGGGAG	ALAD	ENSG00000148218.16	transcript	ENST00000409155.8	protein_coding		4899		chr9	TogoVar
ALCAM_chr3_105361909_105581900	105368223	A A	AAGAGAGA others(35): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01516.hp2 NA18966.hp1 NA19002.hp2 HG01516.hp2 NA18966.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0317 a0001c0001t0001g0365 a0001c0002t0001g0030 a0001c0001t0001g0317 a0001c0001t0001g0365 a0001c0002t0001g0030	3	43	0.0698	42	c.73+ others(55): Show c.73+783_73+784insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGA	ALCAM	ENSG00000170017.12	transcript	ENST00000306107.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
ALKBH4_chr7_102451238_102469863	102467261	T T	TGGGGGGG others(35): Show TGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0049	1	402	0.0025	42	c.-24 others(53): Show c.-2426_-2425insCCCCCCCCCCCCCCCCCCCCCCACCCCCCCCCCC CCCCCCCC	ALKBH4	ENSG00000160993.4	transcript	ENST00000292566.4	protein_coding		2399		chr7	TogoVar
ALK_chr2_29187774_29926586	29200760	T T	TGTATATA others(35): Show TGTATATATATACGTATATACATACGTATATATGTATATATAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00738.hp1 HG01123.hp1 others(7): Show HG00140.hp2 HG00738.hp1 HG01123.hp1 HG01433.hp2 HG02004.hp1 HG02071.hp1 HG02145.hp1 HG02258.hp1 HG02897.hp2 HG03209.hp2	a0002 a0006 a0002 a0006	a0002c0001 a0002c0014 a0002c0018 others(4): Show a0002c0001 a0002c0014 a0002c0018 a0002c0030 a0002c0047 a0002c0056 a0006c0029	a0002c0001t0001 a0002c0014t0001 a0002c0018t0001 others(4): Show a0002c0001t0001 a0002c0014t0001 a0002c0018t0001 a0002c0030t0001 a0002c0047t0001 a0002c0056t0001 a0006c0029t0001	a0002c0001t0001g0033 a0002c0001t0001g0061 a0002c0001t0001g0062 others(7): Show a0002c0001t0001g0033 a0002c0001t0001g0061 a0002c0001t0001g0062 a0002c0001t0001g0063 a0002c0014t0001g0009 a0002c0018t0001g0008 a0002c0030t0001g0060 a0002c0047t0001g0055 a0002c0056t0001g0040 a0006c0029t0001g0016	10	64	0.1563	42	c.393 others(61): Show c.3939-3085_3939-3084insGTATATATACATATATACGTATGTAT ATACGTATATATATAC	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	26/28			chr2	TogoVar
ALK_chr2_29187774_29926586	29200760	T T	TGTATATA others(35): Show TGTATATATATACGTATATATATACGTATATATGTATATATAC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02647.hp2 HG03195.hp2 HG02572.hp1 HG02647.hp2 HG03195.hp2	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0040 a0003c0041 a0007c0057 a0001c0040 a0003c0041 a0007c0057	a0001c0040t0001 a0003c0041t0002 a0007c0057t0002 a0001c0040t0001 a0003c0041t0002 a0007c0057t0002	a0001c0040t0001g0022 a0003c0041t0002g0044 a0007c0057t0002g0023 a0001c0040t0001g0022 a0003c0041t0002g0044 a0007c0057t0002g0023	3	57	0.0526	42	c.393 others(61): Show c.3939-3085_3939-3084insGTATATATACATATATACGTATATAT ATACGTATATATATAC	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	26/28			chr2	TogoVar
ALK_chr2_29187774_29926586	29830960	A A	AGAAGAAG others(35): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0006 a0003c0010t0006	a0003c0010t0006g0001 a0003c0010t0006g0001	1	71	0.0141	42	c.667 others(61): Show c.667+89032_667+89033insCTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTC	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	1/28			chr2	TogoVar
ALMS1_chr2_73380836_73614916	73465023	A A	AGGTAATT others(35): Show AGGTAATTTATAGATTCAATGCCATCCCCATCAAGCTACCAGT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02145.hp1 HG02630.hp1 others(4): Show HG01099.hp2 HG02145.hp1 HG02630.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG03139.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0096 a0004c0007t0001g0098 a0004c0007t0001g0099 others(4): Show a0004c0007t0001g0096 a0004c0007t0001g0098 a0004c0007t0001g0099 a0004c0007t0001g0101 a0004c0007t0001g0102 a0004c0007t0001g0228 a0004c0007t0001g0229	7	245	0.0286	42	c.767 others(61): Show c.7674+9768_7674+9809dupAGTGGTAATTTATAGATTCAATGCCA TCCCCATCAAGCTACC	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALPP_chr2_232373751_232387889	232385077	G G	GGAAGAAG others(35): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG01361.hp1 HG02109.hp2 others(6): Show HG00673.hp2 HG01361.hp1 HG02109.hp2 HG02965.hp1 NA18522.hp2 NA18953.hp2 NA19043.hp2 NA19055.hp1 NA19077.hp2	a0001 a0002 a0019 a0001 a0002 a0019	a0001c0001 a0002c0002 a0002c0009 others(1): Show a0001c0001 a0002c0002 a0002c0009 a0019c0033	a0001c0001t0001 a0001c0001t0010 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0010 a0002c0002t0001 a0002c0009t0001 a0019c0033t0001	a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0029 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0029 a0001c0001t0010g0001 a0002c0002t0001g0008 a0002c0009t0001g0014 a0019c0033t0001g0026	9	268	0.0336	42	c.32 others(53): Show c.3282_*3283insGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAA	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding		2189		chr2	TogoVar
ALPP_chr2_232373751_232387889	232385115	A A	AAGAAGAA others(35): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0002 a0002c0002t0003g0002	1	220	0.0045	42	c.33 others(53): Show c.3320_*3321insAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGG	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding		2227		chr2	TogoVar
ALPP_chr2_232373751_232387889	232385115	A A	AAGAAGAA others(35): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02717.hp2 HG04184.hp1 HG01891.hp1 HG02717.hp2 HG04184.hp1	a0002 a0002	a0002c0002 a0002c0006 a0002c0002 a0002c0006	a0002c0002t0001 a0002c0006t0001 a0002c0006t0003 a0002c0002t0001 a0002c0006t0001 a0002c0006t0003	a0002c0002t0001g0002 a0002c0006t0001g0001 a0002c0006t0003g0002 a0002c0002t0001g0002 a0002c0006t0001g0001 a0002c0006t0003g0002	3	222	0.0135	42	c.33 others(53): Show c.3320_*3321insAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGGAGG	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding		2227		chr2	TogoVar
ALPP_chr2_232373751_232387889	232385115	A A	AAGAAGAA others(35): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	220	0.0045	42	c.33 others(53): Show c.3320_*3321insAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GGAGGAGG	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding		2227		chr2	TogoVar
ALPP_chr2_232373751_232387889	232385115	A A	AAGAAGAA others(35): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAGGAGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp2 HG01516.hp2 HG02698.hp1 others(1): Show HG01361.hp2 HG01516.hp2 HG02698.hp1 HG02976.hp2	a0002 a0004 a0008 a0002 a0004 a0008	a0002c0002 a0002c0006 a0004c0004 others(1): Show a0002c0002 a0002c0006 a0004c0004 a0008c0014	a0002c0002t0001 a0002c0006t0001 a0004c0004t0001 others(1): Show a0002c0002t0001 a0002c0006t0001 a0004c0004t0001 a0008c0014t0001	a0002c0002t0001g0002 a0002c0006t0001g0001 a0004c0004t0001g0032 others(1): Show a0002c0002t0001g0002 a0002c0006t0001g0001 a0004c0004t0001g0032 a0008c0014t0001g0002	4	223	0.0179	42	c.33 others(53): Show c.3320_*3321insAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGA GGAGGAGG	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding		2227		chr2	TogoVar
ALPP_chr2_232373751_232387889	232385115	A A	AAGAAGAA others(35): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGGAGGAGGAGGAGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0002 a0004c0004t0001g0002	1	220	0.0045	42	c.33 others(53): Show c.3320_*3321insAGAAGAAGAAGAAGAAGAAGAAGAAGGAGGAGGA GGAGGAGG	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding		2227		chr2	TogoVar
ALPP_chr2_232373751_232387889	232385115	A A	AAGAAGAA others(35): Show AAGAAGAAGAAGAAGAAGAAGAAGGAGGAGGAGGAGGAGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0002 a0004c0004t0001g0002	1	220	0.0045	42	c.33 others(53): Show c.3320_*3321insAGAAGAAGAAGAAGAAGAAGAAGGAGGAGGAGGA GGAGGAGG	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding		2227		chr2	TogoVar
AMACR_chr5_33981165_34013050	34012763	A A	ATTTGTTT others(35): Show ATTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0017 a0017	a0017c0019 a0017c0019	a0017c0019t0004 a0017c0019t0004	a0017c0019t0004g0133 a0017c0019t0004g0133	1	436	0.0023	42	c.-47 others(53): Show c.-4745_-4744insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAACAAA	AMACR	ENSG00000242110.9	transcript	ENST00000335606.11	protein_coding		4714		chr5	TogoVar
AMBRA1_chr11_46391414_46599023	46585695	A A	AAAAAAAA others(35): Show AAAAAAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0123 a0001c0002t0002g0123	1	67	0.0149	42	c.-12 others(61): Show c.-121+8132_-121+8133insATATATATATATATATATATATATAT ATATATATATTTTTTT	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	1/17			chr11	TogoVar
AMFR_chr16_56356452_56430545	56425420	T T	TCGCTGCC others(35): Show TCGCTGCCGCTGCCGCTGCCGCTGCCGCTGCCGCTGCCGCTGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0339 a0001c0001t0050g0339	1	149	0.0067	42	c.-94 others(49): Show c.-94_-93insGCAGCGGCAGCGGCAGCGGCAGCGGCAGCGGCAGCGGC AGCG	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	1/14	94		chr16	TogoVar
AMIGO1_chr1_109499178_109514727	109503474	G G	GTATATAT others(35): Show GTATATATATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	386	0.0026	42	c.39 others(53): Show c.3956_*3957insTATATATATATATATATATATATATATATATATA TATATATA	AMIGO1	ENSG00000181754.7	transcript	ENST00000369864.5	protein_coding		703		chr1	TogoVar
AMPH_chr7_38378704_38636373	38570936	T T	TATATATA others(35): Show TATATATATATATATATTTATATATATAGAATATATATATAGA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0004 a0003c0006t0004	a0003c0006t0004g0075 a0003c0006t0004g0075	1	285	0.0035	42	c.70- others(59): Show c.70-35926_70-35925insTCTATATATATATTCTATATATATAAAT ATATATATATATAT	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	1/20			chr7	TogoVar
AMPH_chr7_38378704_38636373	38610248	A A	AGGAAGAA others(35): Show AGGAAGAAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0004 a0003c0006t0004	a0003c0006t0004g0004 a0003c0006t0004g0004	1	136	0.0074	42	c.69+ others(59): Show c.69+21034_69+21035insCTTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTCCTTTCTTCC	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	1/20			chr7	TogoVar
ANAPC1_chr2_111762640_111889193	111764813	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0324 a0001c0005t0006g0324	1	269	0.0037	42	c.44 others(53): Show c.4477_*4478insGTGTGTGTGTGTGTATATATATATATATATATAT ATATATAT	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding		2826		chr2	TogoVar
ANAPC1_chr2_111762640_111889193	111764813	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATATACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0315 a0001c0005t0006g0315	1	269	0.0037	42	c.44 others(53): Show c.4477_*4478insGTGTGTGTGTGTATATATATATATATATATATAT ATATATAT	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding		2826		chr2	TogoVar
ANAPC1_chr2_111762640_111889193	111764813	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATATATATACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp2 NA18995.hp1 NA19091.hp2 NA18944.hp2 NA18995.hp1 NA19091.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0009 a0001c0005t0006 a0001c0005t0009	a0001c0005t0006g0317 a0001c0005t0006g0337 a0001c0005t0009g0128 a0001c0005t0006g0317 a0001c0005t0006g0337 a0001c0005t0009g0128	3	271	0.0111	42	c.44 others(53): Show c.4477_*4478insGTGTGTGTATATATATATATATATATATATATAT ATATATAT	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding		2826		chr2	TogoVar
ANAPC1_chr2_111762640_111889193	111764874	A A	ATACGTAT others(35): Show ATACGTATATATATACGTGTATATATACGTATATATATACGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0262 a0001c0003t0004g0262	1	335	0.0030	42	c.44 others(53): Show c.4416_*4417insCACGTATATATATACGTATATATACACGTATATA TATACGTA	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding		2765		chr2	TogoVar
ANAPC1_chr2_111762640_111889193	111866395	A A	ACCCACCC others(35): Show ACCCACCCCGATTTAGACCTTCGAGGAGTGCTGCCCCACAACC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(201): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04228.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18953.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp2 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18972.hp2 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18978.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18982.hp2 NA18984.hp2 NA18989.hp1 NA18989.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp2 NA19006.hp1 NA19010.hp2 NA19043.hp2 NA19054.hp2 NA19055.hp2 NA19060.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19072.hp1 NA19072.hp2 NA19075.hp2 NA19078.hp1 NA19081.hp2 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19091.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20805.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0006 a0009 a0013	a0001c0002 a0001c0003 a0001c0004 others(15): Show a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0011 a0001c0014 a0001c0015 a0001c0017 a0001c0018 a0001c0019 a0001c0029 a0002c0022 a0004c0032 a0006c0021 a0009c0030 a0013c0020	a0001c0002t0002 a0001c0002t0004 a0001c0003t0004 others(23): Show a0001c0002t0002 a0001c0002t0004 a0001c0003t0004 a0001c0003t0018 a0001c0003t0019 a0001c0004t0003 a0001c0004t0017 a0001c0006t0005 a0001c0006t0013 a0001c0006t0016 a0001c0007t0002 a0001c0007t0004 a0001c0007t0007 a0001c0008t0008 a0001c0011t0003 a0001c0014t0002 a0001c0015t0002 a0001c0017t0007 a0001c0018t0003 a0001c0019t0002 a0001c0029t0002 a0002c0022t0005 a0004c0032t0007 a0006c0021t0005 a0009c0030t0004 a0013c0020t0003	a0001c0002t0002g0001 a0001c0002t0002g0150 a0001c0002t0002g0151 others(197): Show a0001c0002t0002g0001 a0001c0002t0002g0150 a0001c0002t0002g0151 a0001c0002t0002g0152 a0001c0002t0002g0190 a0001c0002t0002g0191 a0001c0002t0002g0192 a0001c0002t0002g0193 a0001c0002t0002g0194 a0001c0002t0002g0196 a0001c0002t0002g0197 a0001c0002t0002g0199 a0001c0002t0002g0200 a0001c0002t0002g0201 a0001c0002t0002g0202 a0001c0002t0002g0203 a0001c0002t0002g0204 a0001c0002t0002g0205 a0001c0002t0002g0206 a0001c0002t0002g0207 a0001c0002t0002g0208 a0001c0002t0002g0209 a0001c0002t0002g0211 a0001c0002t0002g0212 a0001c0002t0002g0213 a0001c0002t0002g0214 a0001c0002t0002g0215 a0001c0002t0002g0217 a0001c0002t0002g0218 a0001c0002t0002g0219 a0001c0002t0002g0220 a0001c0002t0002g0221 a0001c0002t0002g0222 a0001c0002t0002g0223 a0001c0002t0002g0224 a0001c0002t0002g0225 a0001c0002t0002g0226 a0001c0002t0002g0227 a0001c0002t0002g0228 a0001c0002t0002g0229 a0001c0002t0002g0230 a0001c0002t0002g0231 a0001c0002t0002g0232 a0001c0002t0002g0233 a0001c0002t0002g0234 a0001c0002t0002g0235 a0001c0002t0002g0236 a0001c0002t0002g0237 a0001c0002t0002g0238 a0001c0002t0002g0239 a0001c0002t0002g0240 a0001c0002t0002g0241 a0001c0002t0002g0242 a0001c0002t0002g0243 a0001c0002t0002g0244 a0001c0002t0002g0245 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0248 a0001c0002t0004g0195 a0001c0003t0004g0262 a0001c0003t0004g0263 a0001c0003t0004g0264 a0001c0003t0004g0266 a0001c0003t0004g0267 a0001c0003t0004g0268 a0001c0003t0004g0269 a0001c0003t0004g0270 a0001c0003t0004g0271 a0001c0003t0004g0272 a0001c0003t0004g0273 a0001c0003t0004g0274 a0001c0003t0004g0275 a0001c0003t0004g0276 a0001c0003t0004g0277 a0001c0003t0004g0278 a0001c0003t0004g0279 a0001c0003t0004g0280 a0001c0003t0004g0281 a0001c0003t0004g0282 a0001c0003t0004g0284 a0001c0003t0004g0286 a0001c0003t0004g0287 a0001c0003t0004g0288 a0001c0003t0004g0289 a0001c0003t0004g0290 a0001c0003t0004g0292 a0001c0003t0004g0293 a0001c0003t0004g0294 a0001c0003t0004g0296 a0001c0003t0004g0297 a0001c0003t0004g0298 a0001c0003t0004g0299 a0001c0003t0004g0300 a0001c0003t0004g0301 a0001c0003t0004g0302 a0001c0003t0004g0303 a0001c0003t0004g0304 a0001c0003t0018g0295 a0001c0003t0019g0283 a0001c0004t0003g0153 a0001c0004t0003g0154 a0001c0004t0003g0155 a0001c0004t0003g0157 a0001c0004t0003g0158 a0001c0004t0003g0159 a0001c0004t0003g0160 a0001c0004t0003g0162 a0001c0004t0003g0163 a0001c0004t0003g0164 a0001c0004t0003g0165 a0001c0004t0003g0166 a0001c0004t0003g0167 a0001c0004t0003g0168 a0001c0004t0003g0169 a0001c0004t0003g0171 a0001c0004t0003g0172 a0001c0004t0003g0173 a0001c0004t0003g0174 a0001c0004t0003g0175 a0001c0004t0003g0176 a0001c0004t0003g0177 a0001c0004t0003g0178 a0001c0004t0003g0179 a0001c0004t0003g0180 a0001c0004t0003g0181 a0001c0004t0003g0182 a0001c0004t0003g0183 a0001c0004t0003g0184 a0001c0004t0003g0185 a0001c0004t0003g0186 a0001c0004t0003g0189 a0001c0004t0003g0249 a0001c0004t0003g0250 a0001c0004t0003g0251 a0001c0004t0017g0161 a0001c0006t0005g0002 a0001c0006t0005g0006 a0001c0006t0005g0007 a0001c0006t0005g0008 a0001c0006t0005g0010 a0001c0006t0005g0011 a0001c0006t0005g0012 a0001c0006t0005g0014 a0001c0006t0005g0015 a0001c0006t0005g0017 a0001c0006t0005g0018 a0001c0006t0005g0019 a0001c0006t0005g0020 a0001c0006t0005g0021 a0001c0006t0005g0022 a0001c0006t0005g0023 a0001c0006t0005g0024 a0001c0006t0005g0025 a0001c0006t0005g0026 a0001c0006t0005g0027 a0001c0006t0005g0028 a0001c0006t0005g0029 a0001c0006t0005g0030 a0001c0006t0005g0031 a0001c0006t0005g0032 a0001c0006t0005g0035 a0001c0006t0013g0016 a0001c0006t0016g0149 a0001c0007t0002g0140 a0001c0007t0002g0141 a0001c0007t0002g0142 a0001c0007t0002g0143 a0001c0007t0002g0144 a0001c0007t0004g0359 a0001c0007t0004g0360 a0001c0007t0004g0361 a0001c0007t0004g0362 a0001c0007t0004g0363 a0001c0007t0004g0364 a0001c0007t0007g0254 a0001c0007t0007g0255 a0001c0007t0007g0256 a0001c0007t0007g0257 a0001c0007t0007g0258 a0001c0007t0007g0260 a0001c0007t0007g0261 a0001c0008t0008g0004 a0001c0008t0008g0145 a0001c0008t0008g0146 a0001c0008t0008g0147 a0001c0008t0008g0148 a0001c0011t0003g0187 a0001c0011t0003g0188 a0001c0014t0002g0198 a0001c0015t0002g0216 a0001c0017t0007g0252 a0001c0018t0003g0156 a0001c0019t0002g0365 a0001c0029t0002g0210 a0002c0022t0005g0013 a0004c0032t0007g0253 a0006c0021t0005g0009 a0009c0030t0004g0285 a0013c0020t0003g0170	204	366	0.5574	42	c.686 others(59): Show c.686-1445_686-1444insGGTTGTGGGGCAGCACTCCTCGAAGGTC TAAATCGGGGTGGG	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding	7/47			chr2	TogoVar
ANAPC1_chr2_111762640_111889193	111866395	A A	ACCCACCC others(35): Show ACCCACCCCGATTTAGACCTTTGAGGAGTGCTGCCCCACAACC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0007 a0001c0007t0007	a0001c0007t0007g0259 a0001c0007t0007g0259	1	163	0.0061	42	c.686 others(59): Show c.686-1445_686-1444insGGTTGTGGGGCAGCACTCCTCAAAGGTC TAAATCGGGGTGGG	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding	7/47			chr2	TogoVar
ANAPC1_chr2_111762640_111889193	111866395	A A	ACCCACCC others(35): Show ACCCACCCTGATTTAGACCTTCGAGGAGTGCTGCCCCACAACC	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0265 a0001c0003t0004g0265	1	163	0.0061	42	c.686 others(59): Show c.686-1445_686-1444insGGTTGTGGGGCAGCACTCCTCGAAGGTC TAAATCAGGGTGGG	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding	7/47			chr2	TogoVar
ANAPC5_chr12_121303245_121357411	121352712	T T	TTGGTGGT others(35): Show TTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	270	0.0037	42	c.-37 others(51): Show c.-373_-372insCCACCACCACCACCACCACCACCACCACCACCACCA CCACCA	ANAPC5	ENSG00000089053.13	transcript	ENST00000261819.8	protein_coding		302		chr12	TogoVar
ANAPC5_chr12_121303245_121357411	121352715	T T	TTGGTGGT others(35): Show TTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 HG02132.hp1 HG02027.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0217 a0001c0001t0001g0170 a0001c0001t0001g0217	2	239	0.0084	42	c.-37 others(51): Show c.-376_-375insCCACCACCACCACCACCACCACCACCACCACCACCA CCACCA	ANAPC5	ENSG00000089053.13	transcript	ENST00000261819.8	protein_coding		305		chr12	TogoVar
ANAPC5_chr12_121303245_121357411	121352718	T T	TTGGTGGT others(35): Show TTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00621.hp2 HG00741.hp2 others(12): Show HG00558.hp2 HG00621.hp2 HG00741.hp2 HG01928.hp1 HG02148.hp2 HG02451.hp2 HG03017.hp2 NA18946.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18995.hp1 NA18998.hp2 NA19030.hp2 NA19082.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0007 a0001c0001 a0002c0007	a0001c0001t0001 a0002c0007t0001 a0001c0001t0001 a0002c0007t0001	a0001c0001t0001g0008 a0001c0001t0001g0021 a0001c0001t0001g0177 others(11): Show a0001c0001t0001g0008 a0001c0001t0001g0021 a0001c0001t0001g0177 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0223 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0230 a0002c0007t0001g0225	15	139	0.1079	42	c.-37 others(51): Show c.-379_-378insCCACCACCACCACCACCACCACCACCACCACCACCA CCACCA	ANAPC5	ENSG00000089053.13	transcript	ENST00000261819.8	protein_coding		308		chr12	TogoVar
ANAPC5_chr12_121303245_121357411	121352718	T T	TTGTTGGT others(35): Show TTGTTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG01167.hp2 HG03927.hp2 others(2): Show HG00609.hp1 HG01167.hp2 HG03927.hp2 NA18970.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0161 a0001c0001t0001g0169 others(2): Show a0001c0001t0001g0007 a0001c0001t0001g0161 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0184	5	129	0.0388	42	c.-37 others(51): Show c.-379_-378insCCACCACCACCACCACCACCACCACCACCACCACCA CCAACA	ANAPC5	ENSG00000089053.13	transcript	ENST00000261819.8	protein_coding		308		chr12	TogoVar
ANAPC5_chr12_121303245_121357411	121352718	T T	TTGTTGTT others(35): Show TTGTTGTTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	125	0.0080	42	c.-37 others(51): Show c.-379_-378insCCACCACCACCACCACCACCACCACCACCACCACCA ACAACA	ANAPC5	ENSG00000089053.13	transcript	ENST00000261819.8	protein_coding		308		chr12	TogoVar
ANGPT1_chr8_107244482_107502918	107370338	G G	GAAAGAAA others(35): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02074.hp2 HG00323.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0019 a0001c0001t0002 a0001c0001t0019	a0001c0001t0002g0153 a0001c0001t0019g0284 a0001c0001t0002g0153 a0001c0001t0019g0284	2	226	0.0088	42	c.298 others(61): Show c.298-23242_298-23241insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTT	ANGPT1	ENSG00000154188.10	transcript	ENST00000517746.6	protein_coding	1/8			chr8	TogoVar
ANGPT1_chr8_107244482_107502918	107370340	A A	AAGAAAGA others(35): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	85	0.0118	42	c.298 others(61): Show c.298-23244_298-23243insCTTTCTTTCTTTTTTTCTTTCTTTCT TTCTTTCTTTCTTTCT	ANGPT1	ENSG00000154188.10	transcript	ENST00000517746.6	protein_coding	1/8			chr8	TogoVar
ANGPT1_chr8_107244482_107502918	107370340	A A	AAGAAAGA others(35): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01981.hp1 HG02738.hp2 HG01123.hp2 HG01981.hp1 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0148 a0001c0001t0001g0233 a0001c0001t0001g0056 a0001c0001t0001g0148 a0001c0001t0001g0233	3	87	0.0345	42	c.298 others(61): Show c.298-23244_298-23243insCTTTCTTTTTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCT	ANGPT1	ENSG00000154188.10	transcript	ENST00000517746.6	protein_coding	1/8			chr8	TogoVar
ANGPT1_chr8_107244482_107502918	107370340	A A	AAGAAAGA others(35): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG03041.hp2 HG01069.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0212 a0001c0001t0001g0198 a0001c0001t0001g0212	2	86	0.0233	42	c.298 others(61): Show c.298-23244_298-23243insCTTTTTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCT	ANGPT1	ENSG00000154188.10	transcript	ENST00000517746.6	protein_coding	1/8			chr8	TogoVar
ANGPTL5_chr11_101885674_101921522	101889450	G G	GAAAGAAA others(35): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00639.hp1 HG02897.hp1 others(6): Show HG00323.hp1 HG00639.hp1 HG02897.hp1 NA18960.hp2 NA18972.hp1 NA19005.hp2 NA19057.hp1 NA19075.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0021 a0001c0001t0001g0061 a0001c0001t0002g0002 others(6): Show a0001c0001t0001g0021 a0001c0001t0001g0061 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0041 a0001c0001t0002g0108 a0001c0001t0002g0127 a0001c0001t0002g0170 a0001c0001t0002g0172	9	275	0.0327	42	c.18 others(53): Show c.1828_*1829insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTT	ANGPTL5	ENSG00000187151.7	transcript	ENST00000334289.7	protein_coding		1223		chr11	TogoVar
ANK1_chr8_41648225_41802622	41703450	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0007 a0002c0007t0007	a0002c0007t0007g0022 a0002c0007t0007g0022	1	151	0.0066	42	c.229 others(59): Show c.2295+590_2295+591insAAAAAAAAAAAAAATATATATATATATA TATATATATATATA	ANK1	ENSG00000029534.22	transcript	ENST00000289734.13	protein_coding	20/42			chr8	TogoVar
ANK3_chr10_60021298_60394875	60100234	G G	GTTTTTTT others(35): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0027 a0027	a0027c0078 a0027c0078	a0027c0078t0001 a0027c0078t0001	a0027c0078t0001g0028 a0027c0078t0001g0028	1	10	0.1000	42	c.332 others(61): Show c.3328+5670_3328+5671insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAA	ANK3	ENSG00000151150.22	transcript	ENST00000280772.7	protein_coding	28/43			chr10	TogoVar
ANKAR_chr2_189669670_189751647	189744990	T T	TCTACTAC others(35): Show TCTACTACTACTACTACTACTACTACTACTACTACTACTACTA	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	52	0.0192	42	c.405 others(59): Show c.4057+241_4057+242insCTACTACTACTACTACTACTACTACTAC TACTACTACTACTA	ANKAR	ENSG00000151687.15	transcript	ENST00000684021.1	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr2	TogoVar

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