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
CHID1_chr11_862859_915810	877869	T T	TTAGAAGG others(25): Show TTAGAAGGCGGCACTGTGGGGAGGCGGGGCCTC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(139): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp2 HG01167.hp2 HG01168.hp1 HG01175.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01515.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG02004.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp2 HG02109.hp2 HG02129.hp1 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02559.hp1 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02717.hp1 HG02717.hp2 HG02738.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03927.hp2 HG04184.hp2 HG04204.hp1 HG06807.hp1 NA18612.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18944.hp2 NA18945.hp1 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18973.hp2 NA18978.hp1 NA18979.hp1 NA18983.hp2 NA18984.hp1 NA18990.hp2 NA18994.hp1 NA18997.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19011.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19064.hp1 NA19074.hp1 NA19081.hp2 NA19082.hp2 NA19087.hp2 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0009 a0002c0002t0001 others(8): Show a0001c0001t0001 a0001c0001t0009 a0002c0002t0001 a0002c0002t0005 a0002c0002t0008 a0002c0002t0011 a0002c0002t0014 a0002c0002t0015 a0002c0002t0018 a0002c0002t0027 a0003c0003t0001	a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0192 others(117): Show a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0192 a0001c0001t0001g0267 a0001c0001t0001g0278 a0001c0001t0009g0255 a0002c0002t0001g0001 a0002c0002t0001g0006 a0002c0002t0001g0013 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0053 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0073 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0084 a0002c0002t0001g0086 a0002c0002t0001g0191 a0002c0002t0001g0193 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0201 a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0218 a0002c0002t0001g0219 a0002c0002t0001g0220 a0002c0002t0001g0222 a0002c0002t0001g0223 a0002c0002t0001g0224 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0242 a0002c0002t0001g0243 a0002c0002t0001g0245 a0002c0002t0001g0246 a0002c0002t0001g0247 a0002c0002t0001g0248 a0002c0002t0001g0249 a0002c0002t0001g0251 a0002c0002t0001g0252 a0002c0002t0001g0253 a0002c0002t0001g0254 a0002c0002t0001g0256 a0002c0002t0001g0258 a0002c0002t0001g0259 a0002c0002t0001g0260 a0002c0002t0001g0266 a0002c0002t0001g0269 a0002c0002t0001g0270 a0002c0002t0001g0271 a0002c0002t0001g0272 a0002c0002t0001g0273 a0002c0002t0001g0274 a0002c0002t0001g0275 a0002c0002t0001g0276 a0002c0002t0001g0277 a0002c0002t0001g0279 a0002c0002t0001g0280 a0002c0002t0001g0281 a0002c0002t0001g0282 a0002c0002t0001g0283 a0002c0002t0001g0284 a0002c0002t0001g0285 a0002c0002t0001g0286 a0002c0002t0001g0287 a0002c0002t0001g0288 a0002c0002t0001g0289 a0002c0002t0001g0292 a0002c0002t0001g0294 a0002c0002t0001g0295 a0002c0002t0001g0297 a0002c0002t0001g0298 a0002c0002t0001g0299 a0002c0002t0001g0300 a0002c0002t0001g0301 a0002c0002t0001g0302 a0002c0002t0001g0303 a0002c0002t0001g0304 a0002c0002t0001g0306 a0002c0002t0001g0307 a0002c0002t0001g0308 a0002c0002t0001g0310 a0002c0002t0001g0311 a0002c0002t0001g0312 a0002c0002t0001g0315 a0002c0002t0001g0316 a0002c0002t0001g0319 a0002c0002t0005g0261 a0002c0002t0005g0293 a0002c0002t0008g0194 a0002c0002t0011g0296 a0002c0002t0014g0071 a0002c0002t0015g0085 a0002c0002t0018g0052 a0002c0002t0027g0257 a0003c0003t0001g0250	142	383	0.3708	32	c.959 others(49): Show c.959+5278_959+5279insGAGGCCCCGCCTCCCCACAGTGCCGCCT TCTA	CHID1	ENSG00000177830.18	transcript	ENST00000323578.13	protein_coding	10/12			chr11	TogoVar
CHL1_chr3_191763_414417	322645	A A	AATATATA others(25): Show AATATATATATATATATATATATATATAATTAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0027 a0003c0003t0027	a0003c0003t0027g0087 a0003c0003t0027g0087	1	141	0.0071	32	c.91+ others(47): Show c.91+2803_91+2804insTAATTATATATATATATATATATATATATA TA	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHM_chrX_85856180_86052558	85896987	T T	TATATATT others(25): Show TATATATTAATTATATAATACATATAATATATA	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	243	0.0041	32	c.141 others(51): Show c.1414-2735_1414-2704dupTATATATTATATGTATTATATAATTA ATATAT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	11/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85913332	A A	AAAAGAAA others(25): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02132.hp1 HG03654.hp1 HG02027.hp1 HG02132.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0001 a0001c0001t0003 a0001c0001t0010	a0001c0001t0001g0164 a0001c0001t0003g0114 a0001c0001t0010g0162 a0001c0001t0001g0164 a0001c0001t0003g0114 a0001c0001t0010g0162	3	47	0.0638	32	c.116 others(51): Show c.1167-2026_1167-1995dupCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	8/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85949978	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02451.hp1 NA19010.hp2 HG00673.hp1 HG02451.hp1 NA19010.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0001 a0006c0006t0001 a0001c0001t0001 a0006c0006t0001	a0001c0001t0001g0123 a0001c0001t0001g0155 a0006c0006t0001g0138 a0001c0001t0001g0123 a0001c0001t0001g0155 a0006c0006t0001g0138	3	19	0.1579	32	c.116 others(51): Show c.1166+6143_1166+6174dupATATATATATATATATATATATATAT ATATAT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	8/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85981206	C C	CTATTTCT others(25): Show CTATTTCTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01070.hp2 HG01071.hp2 others(5): Show HG00735.hp2 HG01070.hp2 HG01071.hp2 HG01099.hp1 HG01168.hp2 HG01358.hp1 HG02129.hp1 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0042 a0001c0002t0002g0050 a0001c0002t0002g0053 others(5): Show a0001c0002t0002g0042 a0001c0002t0002g0050 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0059 a0001c0002t0002g0068 a0001c0002t0002g0070 a0001c0002t0002g0072	8	187	0.0428	32	c.189 others(47): Show c.189+530_189+531insTATATATATATATATATATATATATAGAAA TA	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	3/14			chrX	TogoVar
CHN2_chr7_29189775_29519328	29273326	C C	CATATATA others(25): Show CATATATATATATATATATGTGTATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02976.hp1 NA18906.hp2 HG02572.hp2 HG02976.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0002 a0002c0004t0012 a0001c0002t0002 a0002c0004t0012	a0001c0002t0002g0090 a0001c0002t0002g0123 a0002c0004t0012g0126 a0001c0002t0002g0090 a0001c0002t0002g0123 a0002c0004t0012g0126	3	174	0.0172	32	c.49+ others(49): Show c.49+78350_49+78351insATATGTGTATATATATATATATATATAT ATAT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHODL_chr21_18239833_18272370	18248975	A A	AAATATAT others(25): Show AAATATATATTATACATATATGTATTTATATAT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	400	0.0025	32	c.79+ others(47): Show c.79+3691_79+3722dupTATGTATTTATATATAATATATATTATACA TA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHP2_chr16_23750026_23763935	23759381	C C	CTTCTTTC others(25): Show CTTCTTTCTTTCTTTCTTTCTTTCCTTCTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	111	0.0090	32	c.17 others(43): Show c.1798_*1799insTTCTTTCTTTCTTTCTTTCTTTCCTTCTTTCT	CHP2	ENSG00000166869.3	transcript	ENST00000300113.3	protein_coding		447		chr16	TogoVar
CHP2_chr16_23750026_23763935	23759381	C C	CTTCTTTC others(25): Show CTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00544.hp1 HG00609.hp2 others(20): Show HG00323.hp1 HG00544.hp1 HG00609.hp2 HG00642.hp2 HG00738.hp1 HG01071.hp1 HG01167.hp2 HG01891.hp2 HG02080.hp1 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02738.hp2 HG03688.hp1 NA18522.hp1 NA18964.hp1 NA18973.hp2 NA19074.hp2 NA19085.hp2 NA19088.hp1 NA19091.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0002g0005 a0001c0001t0003g0011	23	133	0.1729	32	c.17 others(43): Show c.1798_*1799insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	CHP2	ENSG00000166869.3	transcript	ENST00000300113.3	protein_coding		447		chr16	TogoVar
CHRDL1_chrX_110668856_110800817	110689061	A A	AATATACA others(25): Show AATATACATATATATAAATATATATATAAATAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0043 a0001c0002t0006g0043	1	118	0.0085	32	c.779 others(47): Show c.779-259_779-258insATATTTATATATATATTTATATATATGTAT AT	CHRDL1	ENSG00000101938.15	transcript	ENST00000372042.6	protein_coding	8/11			chrX	TogoVar
CHRFAM7A_chr15_30355566_30398540	30393865	G G	GTGTGTGT others(25): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 HG02109.hp2 HG02074.hp1 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0088 a0001c0001t0001g0090	2	88	0.0227	32	c.-77 others(41): Show c.-771_-770insTAGACACACACACACACACACACACACACACA	CHRFAM7A	ENSG00000166664.15	transcript	ENST00000299847.7	protein_coding		326		chr15	TogoVar
CHRM1_chr11_62903679_62926363	62924654	C C	CTATATAT others(25): Show CTATATATATATATATATACATATATATATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0054 a0001c0003t0002g0054	1	413	0.0024	32	c.-35 others(43): Show c.-3516_-3515insCACATATATATATGTATATATATATATATATA	CHRM1	ENSG00000168539.4	transcript	ENST00000306960.4	protein_coding		3292		chr11	TogoVar
CHRM2_chr7_136863652_137025213	137000547	A A	AGAAGGAA others(25): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0174 a0001c0001t0002g0174	1	96	0.0104	32	c.-47 others(49): Show c.-47+8297_-47+8328dupAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGG	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHRM2_chr7_136863652_137025213	137000567	G G	GGAAGGAA others(25): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0075 a0001c0001t0075	a0001c0001t0075g0106 a0001c0001t0075g0106	1	269	0.0037	32	c.-47 others(49): Show c.-47+8328_-47+8329insAAGGAAAGAAGGAAGGAAGGAAGGAAGG AAGG	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHRM2_chr7_136863652_137025213	137011215	G G	GTGTGTGT others(25): Show GTGTGTGTGTGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0208 a0001c0001t0046g0208	1	246	0.0041	32	c.-46 others(49): Show c.-46-3604_-46-3603insGTGTGTGTGTGTATATATATATATATAT ATAT	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHRM2_chr7_136863652_137025213	137011215	G G	GTGTGTGT others(25): Show GTGTGTGTGTGTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02723.hp1 HG02976.hp1 others(1): Show HG02615.hp2 HG02723.hp1 HG02976.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0047 a0001c0001t0054 a0001c0001t0018 a0001c0001t0047 a0001c0001t0054	a0001c0001t0018g0217 a0001c0001t0018g0311 a0001c0001t0047g0122 others(1): Show a0001c0001t0018g0217 a0001c0001t0018g0311 a0001c0001t0047g0122 a0001c0001t0054g0253	4	249	0.0161	32	c.-46 others(49): Show c.-46-3604_-46-3603insGTGTGTGTGTGTGTATATATATATATAT ATAT	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHRM2_chr7_136863652_137025213	137011215	G G	GTGTGTGT others(25): Show GTGTGTGTGTGTGTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02055.hp1 HG01261.hp2 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0075 a0001c0001t0043 a0001c0001t0075	a0001c0001t0043g0247 a0001c0001t0075g0106 a0001c0001t0043g0247 a0001c0001t0075g0106	2	247	0.0081	32	c.-46 others(49): Show c.-46-3604_-46-3603insGTGTGTGTGTGTGTGTATATATATATAT ATAT	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHRM3_chr1_239381568_239920450	239383054	G G	GTCTCTCT others(25): Show GTCTCTCTCTTTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0077 a0001c0001t0005g0077	1	49	0.0204	32	c.-46 others(43): Show c.-4694_-4693insTCTCTCTCTTTCTCTCTCTCTCTCTCTCTCTC	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding		3513		chr1	TogoVar
CHRM3_chr1_239381568_239920450	239404410	A A	AAGAAAGA others(25): Show AAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	74	0.0135	32	c.-52 others(53): Show c.-521+17184_-521+17185insGAAAGAAAAAGAAAGAAAGAAAGA AAGAAAGA	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRM3_chr1_239381568_239920450	239407417	T T	TATATATA others(25): Show TATATATATATATATATAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0016 a0001c0001t0004g0016	1	93	0.0108	32	c.-52 others(53): Show c.-521+20191_-521+20192insTATATATATATATATAGAGAGAGA GAGAGAGA	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRM3_chr1_239381568_239920450	239407417	T T	TATATATA others(25): Show TATATATATATATATATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01255.hp2 NA18955.hp1 HG01255.hp2 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0106 a0001c0001t0003g0060 a0001c0001t0001g0106 a0001c0001t0003g0060	2	94	0.0213	32	c.-52 others(53): Show c.-521+20191_-521+20192insTATATATATATATATATATATAGA GAGAGAGA	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRM3_chr1_239381568_239920450	239407417	T T	TATATATA others(25): Show TATATATATATATATATATATATATATAGAGAG	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0105 a0001c0001t0051g0105	1	93	0.0108	32	c.-52 others(53): Show c.-521+20191_-521+20192insTATATATATATATATATATATATA TAGAGAGA	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRM3_chr1_239381568_239920450	239580704	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0096 a0001c0001t0053g0096	1	96	0.0104	32	c.-31 others(53): Show c.-313+34956_-313+34957insTATATATATATATATATATATATA TATACACA	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRM3_chr1_239381568_239920450	239634373	A A	AAATGAAA others(25): Show AAATGAAAGAAAGAAAGACAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0019 a0001c0001t0021g0019	1	100	0.0100	32	c.-25 others(51): Show c.-250+2089_-250+2090insTGAAAGAAAGAAAGACAGAAAGAAAG AAAGAA	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRM5_chr15_33963497_34072458	34069311	T T	TTGGGAGG others(25): Show TTGGGAGGCTGAGGCAGGAGAATTGCTTGAACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02451.hp2 HG02109.hp1 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0105 a0001c0001t0003g0025 a0001c0001t0002g0105 a0001c0001t0003g0025	2	335	0.0060	32	c.49 others(43): Show c.4995_*4996insTGGGAGGCTGAGGCAGGAGAATTGCTTGAACC	CHRM5	ENSG00000184984.10	transcript	ENST00000383263.7	protein_coding		1854		chr15	TogoVar
CHRNA10_chr11_3660587_3676384	3663076	A A	ATCTCATC others(25): Show ATCTCATCTCATCTCATCTCATCTCATCTCATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	370	0.0027	32	c.30 others(43): Show c.3030_*3031insGATGAGATGAGATGAGATGAGATGAGATGAGA	CHRNA10	ENSG00000129749.3	transcript	ENST00000250699.2	protein_coding		2510		chr11	TogoVar
CHRNB3_chr8_42692366_42742407	42703435	A A	AAAAAAAA others(25): Show AAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04184.hp1 NA18969.hp1 HG04184.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0152 a0001c0001t0002g0181 a0001c0001t0002g0152 a0001c0001t0002g0181	2	168	0.0119	32	c.53- others(47): Show c.53-5281_53-5280insAAAAAAAATATATATATATATATATATATA TA	CHRNB3	ENSG00000147432.7	transcript	ENST00000289957.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
CHRNB3_chr8_42692366_42742407	42703435	A A	AAAAAAAA others(25): Show AAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp2 NA19063.hp2 HG00741.hp1 HG00741.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0212 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0212 a0001c0001t0002g0250 a0001c0001t0002g0251	3	169	0.0178	32	c.53- others(47): Show c.53-5281_53-5280insAAAAAATATATATATATATATATATATATA TA	CHRNB3	ENSG00000147432.7	transcript	ENST00000289957.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
CHRNB3_chr8_42692366_42742407	42717403	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0194 a0001c0001t0002g0194	1	16	0.0625	32	c.249 others(49): Show c.249+6971_249+6972insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AGAA	CHRNB3	ENSG00000147432.7	transcript	ENST00000289957.3	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
CHST12_chr7_2398611_2453484	2434118	C C	CCGCCCGC others(25): Show CCGCCCGCCCGCCCGCTCGCCCGCTCGCCCGCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0235 a0004c0004t0235	a0004c0004t0235g0010 a0004c0004t0235g0010	1	307	0.0033	32	c.24 others(41): Show c.241_*242insCCGCCCGCTCGCCCGCTCGCCCGCTCGCCCGC	CHST12	ENSG00000136213.10	transcript	ENST00000618655.2	protein_coding	2/2	242	INFO_REALIGN_3_PRIME	chr7	TogoVar
CHST8_chr19_33616953_33778506	33757420	A A	AAGAGAGA others(25): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	250	0.0040	32	c.131 others(51): Show c.131-13990_131-13989insGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGA	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHST8_chr19_33616953_33778506	33757522	G G	GAAAGAAA others(25): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	181	0.0055	32	c.131 others(51): Show c.131-13890_131-13889insAAGAAAGAAAGAAAGAAAGAAAGAAA GAGAAA	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHST8_chr19_33616953_33778506	33757522	G G	GAAAGAAA others(25): Show GAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	181	0.0055	32	c.131 others(51): Show c.131-13890_131-13889insAAGAAAGAGAAAGAAAGAAAGAAAGA AAGAAA	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHST8_chr19_33616953_33778506	33757522	G G	GGAAGGAA others(25): Show GGAAGGAAGGAAGGAAGGAGAAAGAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	181	0.0055	32	c.131 others(51): Show c.131-13891_131-13890insGAAGGAAGGAAGGAAGGAGAAAGAAG AAAGAA	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4			chr19	TogoVar
CHST8_chr19_33616953_33778506	33765053	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	222	0.0045	32	c.131 others(49): Show c.131-6340_131-6339insATATATATATATATATATATATATATAT ATAT	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHST8_chr19_33616953_33778506	33765070	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATGTATG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03130.hp2 HG03453.hp1 others(1): Show HG02451.hp1 HG03130.hp2 HG03453.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0040 others(1): Show a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0040 a0001c0001t0001g0213	4	203	0.0197	32	c.131 others(49): Show c.131-6340_131-6339insATATATATATATATATATATATATGTAT GTAT	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHST8_chr19_33616953_33778506	33765070	A A	ATATATAT others(25): Show ATATATATATATATATATATATATGTATGTATG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	200	0.0050	32	c.131 others(49): Show c.131-6340_131-6339insATATATATATATATATATATGTATGTAT GTAT	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHST9_chr18_26901481_27190308	27000622	G G	GTCTATCT others(25): Show GTCTATCTACCTACCTATCTATCTATCTATCTA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0019 a0001c0001t0007g0019	1	56	0.0179	32	c.202 others(51): Show c.202+23493_202+23494insTAGATAGATAGATAGATAGGTAGGTA GATAGA	CHST9	ENSG00000154080.14	transcript	ENST00000618847.5	protein_coding	4/5			chr18	TogoVar
CIDEA_chr18_12249361_12282595	12278333	C C	CGGGGGGG others(25): Show CGGGGGGGGGGGGGTTGGGGGGGGGGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	446	0.0022	32	c.10 others(43): Show c.1063_*1064insGGGGGGGGGGGGGTTGGGGGGGGGGGGGGGGG	CIDEA	ENSG00000176194.18	transcript	ENST00000320477.10	protein_coding		739		chr18	TogoVar
CIP2A_chr3_108544864_108594438	108553894	T T	TACAAAAA others(25): Show TACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0010 a0007c0010t0001g0010	1	117	0.0085	32	c.232 others(49): Show c.2325-165_2325-164insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGT	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	18/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108569168	C C	CTATATAT others(25): Show CTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02738.hp2 NA18950.hp2 others(13): Show HG02015.hp2 HG02738.hp2 NA18950.hp2 NA18955.hp1 NA18956.hp2 NA18966.hp1 NA18967.hp1 NA18983.hp2 NA18994.hp1 NA19001.hp2 NA19011.hp2 NA19043.hp1 NA19070.hp2 NA19072.hp1 NA19077.hp1 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0001 a0001c0001t0004 a0002c0002t0001	a0001c0001t0004g0310 a0001c0001t0004g0321 a0002c0002t0001g0028 others(13): Show a0001c0001t0004g0310 a0001c0001t0004g0321 a0002c0002t0001g0028 a0002c0002t0001g0040 a0002c0002t0001g0042 a0002c0002t0001g0068 a0002c0002t0001g0073 a0002c0002t0001g0076 a0002c0002t0001g0082 a0002c0002t0001g0088 a0002c0002t0001g0090 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0122 a0002c0002t0001g0216 a0002c0002t0001g0222	16	222	0.0721	32	c.111 others(49): Show c.1113+220_1113+221insTATATATATATATATATATATATATATA TATA	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	9/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108569177	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0003 a0006c0007t0003	a0006c0007t0003g0341 a0006c0007t0003g0341	1	338	0.0030	32	c.111 others(49): Show c.1113+211_1113+212insGTATATATATATATATATATATATATAT ATAT	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	9/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108569181	T T	TATATATA others(25): Show TATATATATATATATATATATACACACACACAC	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0259 a0001c0001t0006g0259	1	211	0.0047	32	c.111 others(49): Show c.1113+207_1113+208insGTGTGTGTGTGTATATATATATATATAT ATAT	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	9/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108569181	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02145.hp2 HG02647.hp1 others(4): Show HG01928.hp1 HG02145.hp2 HG02647.hp1 HG02717.hp2 HG03453.hp1 HG03471.hp1 HG03579.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0005 others(1): Show a0001c0001 a0002c0002 a0003c0005 a0003c0008	a0001c0001t0001 a0002c0002t0001 a0003c0005t0002 others(1): Show a0001c0001t0001 a0002c0002t0001 a0003c0005t0002 a0003c0008t0002	a0001c0001t0001g0207 a0002c0002t0001g0078 a0003c0005t0002g0030 others(4): Show a0001c0001t0001g0207 a0002c0002t0001g0078 a0003c0005t0002g0030 a0003c0005t0002g0140 a0003c0005t0002g0141 a0003c0008t0002g0149 a0003c0008t0002g0150	7	217	0.0323	32	c.111 others(49): Show c.1113+207_1113+208insGTATATATATATATATATATATATATAT ATAT	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	9/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108575876	T T	TCATATAC others(25): Show TCATATACATGTGTATATATACGTATATATACA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02630.hp1 HG03139.hp1 HG01192.hp1 HG02630.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027	3	178	0.0169	32	c.894 others(47): Show c.894+394_894+395insTGTATATATACGTATATATACACATGTATA TG	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CKAP2L_chr2_112731349_112769609	112734169	A A	ATATATGT others(25): Show ATATATGTGTGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0010 a0003c0011t0010	a0003c0011t0010g0009 a0003c0011t0010g0009	1	2	0.5000	32	c.46 others(43): Show c.4653_*4654insCACACACACACACACACACACACACACATATA	CKAP2L	ENSG00000169607.13	transcript	ENST00000302450.11	protein_coding		2179		chr2	TogoVar
CKAP4_chr12_106232881_106253020	106237526	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp2 NA18957.hp1 NA19068.hp1 HG03654.hp2 NA18957.hp1 NA19068.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0003 a0001c0002t0002 a0001c0002t0003	a0001c0002t0002g0002 a0001c0002t0003g0003 a0001c0002t0002g0002 a0001c0002t0003g0003	3	138	0.0217	32	c.14 others(43): Show c.1497_*1498insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CKAP4	ENSG00000136026.14	transcript	ENST00000378026.5	protein_coding		354		chr12	TogoVar
CKMT2_chr5_81228322_81271398	81250940	A A	AACACACA others(25): Show AACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01993.hp1 HG02717.hp1 HG00280.hp2 HG01993.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0099 a0001c0001t0001g0123 a0001c0001t0003g0203 a0001c0001t0001g0099 a0001c0001t0001g0123 a0001c0001t0003g0203	3	86	0.0349	32	c.-20 others(47): Show c.-20-165_-20-134dupCACACACACACACACACACACACACACACA CA	CKMT2	ENSG00000131730.16	transcript	ENST00000254035.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
CKMT2_chr5_81228322_81271398	81250978	C C	CACACACA others(25): Show CACACACACACACACACACACACACACACAGAA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	347	0.0029	32	c.-20 others(47): Show c.-20-134_-20-133insCACACACACACACACACACACACACACAGA AA	CKMT2	ENSG00000131730.16	transcript	ENST00000254035.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr5	TogoVar

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