Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
AMOTL2_chr3_134350347_134379447	134372530	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01257.hp1 HG01258.hp2 others(2): Show HG00609.hp2 HG01257.hp1 HG01258.hp2 HG01361.hp2 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0005 a0002c0002t0002 others(1): Show a0001c0001t0002 a0001c0001t0005 a0002c0002t0002 a0002c0002t0003	a0001c0001t0002g0134 a0001c0001t0005g0034 a0002c0002t0002g0120 others(1): Show a0001c0001t0002g0134 a0001c0001t0005g0034 a0002c0002t0002g0120 a0002c0002t0003g0135	5	57	0.0877	20	c.-61 others(37): Show c.-61-1056_-61-1037dupGTGTGTGTGTGTGTGTGTGT		AMOTL2	ENSG00000114019.15	transcript	ENST00000249883.10	protein_coding	1/9						chr3	TogoVar
AMPD1_chr1_114668098_114700546	114677799	C C	CTCCTTCC others(13): Show CTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03834.hp2 HG03540.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0086 a0001c0001t0001g0058 a0001c0001t0001g0086	2	50	0.0400	20	c.122 others(36): Show c.1224+91_1224+110dupAGGAAGGAAGGAAGGAAGGA		AMPD1	ENSG00000116748.22	transcript	ENST00000520113.7	protein_coding	9/15						chr1	TogoVar
AMPD2_chr1_109614837_109637051	109615620	A A	AAAAAGAA others(13): Show AAAAAGAAAAGAAAAGAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp1 NA19081.hp1 HG03669.hp1 NA19081.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0032 a0002c0002t0002g0006 a0002c0002t0001g0032 a0002c0002t0002g0006	2	29	0.0690	20	c.-49 others(31): Show c.-4921_-4920insAAAAGAAAAGAAAAGAAAAG		AMPD2	ENSG00000116337.20	transcript	ENST00000528667.7	protein_coding					4216		chr1	TogoVar
AMPH_chr7_38378704_38636373	38407021	C C	CCTCTCTC others(13): Show CCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01099.hp2 HG02080.hp2 others(5): Show HG01070.hp2 HG01099.hp2 HG02080.hp2 HG02129.hp1 HG02965.hp1 HG03491.hp1 NA18988.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 a0001c0003t0002	a0001c0001t0001g0071 a0001c0001t0001g0187 a0001c0001t0001g0218 others(5): Show a0001c0001t0001g0071 a0001c0001t0001g0187 a0001c0001t0001g0218 a0001c0001t0001g0239 a0001c0001t0004g0053 a0001c0002t0002g0116 a0001c0002t0002g0188 a0001c0003t0002g0010	8	125	0.0640	20	c.139 others(41): Show c.1398+10784_1398+10803dupAGAGAGAGAGAGAGAGAGAG		AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	17/20						chr7	TogoVar
AMPH_chr7_38378704_38636373	38407048	C C	CTCTCTCT others(13): Show CTCTCTCTCTCTCTATATATA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0152 a0001c0003t0002g0153 a0001c0003t0002g0152 a0001c0003t0002g0153	2	230	0.0087	20	c.139 others(41): Show c.1398+10776_1398+10777insTATATATAGAGAGAGAGAGA		AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	17/20						chr7	TogoVar
AMPH_chr7_38378704_38636373	38407048	C C	CTCTCTCT others(13): Show CTCTCTCTCTCTCTCTATATA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	229	0.0044	20	c.139 others(41): Show c.1398+10776_1398+10777insTATATAGAGAGAGAGAGAGA		AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	17/20						chr7	TogoVar
AMPH_chr7_38378704_38636373	38407048	C C	CTCTCTCT others(13): Show CTCTCTCTCTCTCTCTCTATA	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02895.hp1 NA18971.hp1 HG02300.hp1 HG02895.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0246 a0001c0002t0002g0008 a0001c0002t0002g0093 a0001c0001t0001g0246 a0001c0002t0002g0008 a0001c0002t0002g0093	3	231	0.0130	20	c.139 others(41): Show c.1398+10776_1398+10777insTATAGAGAGAGAGAGAGAGA		AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	17/20						chr7	TogoVar
AMPH_chr7_38378704_38636373	38407048	C C	CTCTCTCT others(13): Show CTCTCTCTCTCTCTCTCTCTA	intron_variant intron_variant	MODIFIER	HG00733.hp2 NA18980.hp1 NA19056.hp1 HG00733.hp2 NA18980.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0108 a0001c0001t0001g0248 a0001c0002t0002g0036 a0001c0001t0001g0108 a0001c0001t0001g0248 a0001c0002t0002g0036	3	231	0.0130	20	c.139 others(41): Show c.1398+10776_1398+10777insTAGAGAGAGAGAGAGAGAGA		AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	17/20						chr7	TogoVar
AMPH_chr7_38378704_38636373	38416102	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01515.hp1 HG01981.hp1 others(4): Show HG01168.hp1 HG01515.hp1 HG01981.hp1 HG02615.hp1 HG03453.hp1 HG03704.hp2 HG03710.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0001c0001t0003 a0003c0006t0004 a0001c0001t0001 a0001c0001t0003 a0003c0006t0004	a0001c0001t0001g0054 a0001c0001t0001g0107 a0001c0001t0001g0110 others(4): Show a0001c0001t0001g0054 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0270 a0001c0001t0003g0159 a0001c0001t0003g0206 a0003c0006t0004g0011	7	26	0.2692	20	c.139 others(39): Show c.1398+1703_1398+1722dupATATATATATATATATATAT		AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	17/20						chr7	TogoVar
AMPH_chr7_38378704_38636373	38441770	G G	GATATATA others(13): Show GATATATATCATATATCTATC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03130.hp1 HG03540.hp1 HG02615.hp1 HG03130.hp1 HG03540.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0004 a0003c0006t0004	a0003c0006t0004g0011 a0003c0006t0004g0085 a0003c0006t0004g0140 a0003c0006t0004g0011 a0003c0006t0004g0085 a0003c0006t0004g0140	3	258	0.0116	20	c.101 others(39): Show c.1018-5383_1018-5382insGATAGATATATGATATATAT		AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	11/20						chr7	TogoVar
AMPH_chr7_38378704_38636373	38441815	A A	ATATCATA others(13): Show ATATCATATATCTATCATATC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01168.hp1 HG02056.hp1 others(17): Show HG00621.hp1 HG01168.hp1 HG02056.hp1 HG02080.hp2 HG02129.hp1 HG02145.hp2 HG02165.hp2 HG02630.hp1 HG02976.hp2 HG03491.hp1 HG03669.hp1 NA18959.hp2 NA18980.hp1 NA18982.hp2 NA18988.hp1 NA19007.hp2 NA19009.hp1 NA19056.hp1 NA19060.hp2 NA20129.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0007 a0004c0011 others(1): Show a0001c0001 a0001c0007 a0004c0011 a0005c0015	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0007t0001 a0004c0011t0001 a0005c0015t0001	a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0071 others(17): Show a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0071 a0001c0001t0001g0096 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0187 a0001c0001t0001g0218 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0248 a0001c0001t0001g0253 a0001c0001t0003g0070 a0001c0001t0004g0006 a0001c0001t0004g0012 a0001c0001t0006g0277 a0001c0007t0001g0090 a0004c0011t0001g0066 a0005c0015t0001g0223	20	286	0.0699	20	c.101 others(39): Show c.1018-5428_1018-5427insGATATGATAGATATATGATA		AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	11/20						chr7	TogoVar
AMPH_chr7_38378704_38636373	38525258	G G	GTGTATAT others(13): Show GTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	208	0.0048	20	c.150 others(37): Show c.150+9672_150+9673insTATATATATATATATATACA		AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	2/20						chr7	TogoVar
AMTN_chr4_70513569_70537743	70516392	A A	ATATACGT others(13): Show ATATACGTATATATATATACG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0129 a0004c0005t0001g0129	1	456	0.0022	20	c.-22 others(31): Show c.-2278_-2277insTATACGTATATATATATACG		AMTN	ENSG00000187689.10	transcript	ENST00000339336.9	protein_coding					2176		chr4	TogoVar
AMZ1_chr7_2683202_2724683	2715935	G G	GCAAAGTC others(13): Show GCAAAGTCCACTGAATTGCTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02602.hp1 HG02735.hp1 HG02602.hp1 HG02735.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0039 a0002c0003t0039	a0002c0003t0039g0040 a0002c0003t0039g0121 a0002c0003t0039g0040 a0002c0003t0039g0121	2	436	0.0046	20	c.30 others(31): Show c.3058_*3077dupCAAAGTCCACTGAATTGCTT		AMZ1	ENSG00000174945.14	transcript	ENST00000683327.1	protein_coding	7/7				3078	INFO_REALIGN_3_PRIME	chr7	TogoVar
ANAPC10_chr4_144989576_145103196	145011336	A A	AAAAATAA others(13): Show AAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01069.hp1 HG01070.hp1 others(9): Show HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01346.hp2 HG01361.hp1 HG02056.hp2 HG02300.hp1 HG03669.hp2 NA18942.hp1 NA18943.hp2 NA18968.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0108 a0001c0001t0001g0270 a0001c0001t0001g0271 others(9): Show a0001c0001t0001g0108 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0275 a0001c0001t0001g0281 a0001c0001t0001g0284 a0001c0001t0001g0306 a0001c0001t0001g0310 a0001c0001t0001g0315 a0001c0001t0001g0317 a0001c0001t0002g0265 a0001c0001t0002g0303	12	154	0.0779	20	c.328 others(39): Show c.328-15753_328-15734dupATTTTATTTTATTTTATTTT		ANAPC10	ENSG00000164162.14	transcript	ENST00000507656.6	protein_coding	4/4						chr4	TogoVar
ANAPC10_chr4_144989576_145103196	145026945	A A	ATATATAT others(13): Show ATATATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02080.hp2 HG02647.hp2 others(3): Show HG00621.hp1 HG02080.hp2 HG02647.hp2 HG03942.hp2 NA18977.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0190 others(3): Show a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0222 a0001c0001t0001g0245	6	113	0.0531	20	c.328 others(39): Show c.328-31343_328-31342insCACACATATATATATATATA		ANAPC10	ENSG00000164162.14	transcript	ENST00000507656.6	protein_coding	4/4						chr4	TogoVar
ANAPC10_chr4_144989576_145103196	145026945	A A	ATATATAT others(13): Show ATATATATATATATGTGTGTG	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	108	0.0093	20	c.328 others(39): Show c.328-31343_328-31342insCACACACATATATATATATA		ANAPC10	ENSG00000164162.14	transcript	ENST00000507656.6	protein_coding	4/4						chr4	TogoVar
ANAPC10_chr4_144989576_145103196	145034523	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02109.hp2 HG02135.hp1 others(13): Show HG02004.hp1 HG02109.hp2 HG02135.hp1 HG02148.hp1 HG02165.hp2 HG02257.hp2 HG02622.hp1 HG02630.hp2 HG02896.hp2 HG02976.hp2 NA18522.hp1 NA18947.hp1 NA18963.hp2 NA18980.hp2 NA18990.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0001g0036 others(13): Show a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0050 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0075 a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0001t0001g0107 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0331	16	96	0.1667	20	c.327 others(39): Show c.327+30029_327+30048dupTATATATATATATATATATA		ANAPC10	ENSG00000164162.14	transcript	ENST00000507656.6	protein_coding	4/4						chr4	TogoVar
ANAPC11_chr17_81886723_81905255	81892542	T T	TTTTTTTT others(13): Show TTTTTTTTTTTTTTTTTTTGA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	299	0.0033	20	c.-75 others(35): Show c.-75+701_-75+702insTTTTTTTTTTTTTTTTTTGA		ANAPC11	ENSG00000141552.18	transcript	ENST00000344877.10	protein_coding	1/3						chr17	TogoVar
ANAPC16_chr10_72211012_72240860	72218145	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA18946.hp1 NA18974.hp2 others(2): Show HG00609.hp1 NA18946.hp1 NA18974.hp2 NA18997.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0003 a0002c0004t0003 a0001c0001t0003 a0002c0004t0003	a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 others(2): Show a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0040 a0002c0004t0003g0039	5	301	0.0166	20	c.-28 others(37): Show c.-28+2009_-28+2028dupAAAAAAAAAAAAAAAAAAAA		ANAPC16	ENSG00000166295.9	transcript	ENST00000299381.5	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr10	TogoVar
ANAPC1_chr2_111762640_111889193	111764813	T T	TATATATA others(13): Show TATATATATATATACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0268 a0001c0003t0004g0268	1	269	0.0037	20	c.44 others(31): Show c.4477_*4478insGTGTGTGTATATATATATAT		ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding					2826		chr2	TogoVar
ANAPC1_chr2_111762640_111889193	111764813	T T	TATATATA others(13): Show TATATATATATATATACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0004 a0001c0007t0004	a0001c0007t0004g0363 a0001c0007t0004g0363	1	269	0.0037	20	c.44 others(31): Show c.4477_*4478insGTGTGTATATATATATATAT		ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding					2826		chr2	TogoVar
ANAPC1_chr2_111762640_111889193	111764813	T T	TATATATA others(13): Show TATATATATATATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0195 a0001c0002t0004g0195	1	269	0.0037	20	c.44 others(31): Show c.4477_*4478insGTATATATATATATATATAT		ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding					2826		chr2	TogoVar
ANAPC1_chr2_111762640_111889193	111770201	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02886.hp1 HG02717.hp1 HG02886.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0140 a0001c0007t0002g0142 a0001c0007t0002g0140 a0001c0007t0002g0142	2	35	0.0571	20	c.572 others(37): Show c.5720-815_5720-796dupTATATATATATATATATATA		ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding	47/47						chr2	TogoVar
ANAPC1_chr2_111762640_111889193	111832937	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA19085.hp2 NA18939.hp1 NA19085.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0155 a0001c0004t0003g0171 a0001c0004t0003g0155 a0001c0004t0003g0171	2	116	0.0172	20	c.247 others(37): Show c.2476+282_2476+283insTTTTTTTTTTTTTTTTTTTT		ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding	20/47						chr2	TogoVar
ANAPC1_chr2_111762640_111889193	111843276	G G	GATACAAT others(13): Show GATACAATAAACCTTAATAAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0307 a0001c0001t0014g0307	1	368	0.0027	20	c.204 others(37): Show c.2040+135_2040+136insATTATTAAGGTTTATTGTAT		ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding	17/47						chr2	TogoVar
ANAPC5_chr12_121303245_121357411	121353435	C C	CTTTTGTT others(13): Show CTTTTGTTTTGTTTTGTTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	165	0.0061	20	c.-11 others(31): Show c.-1115_-1096dupCAAAACAAAACAAAACAAAA		ANAPC5	ENSG00000089053.13	transcript	ENST00000261819.8	protein_coding					1025		chr12	TogoVar
ANAPC5_chr12_121303245_121357411	121357376	A A	AAAAGAAA others(13): Show AAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	205	0.0049	20	c.-50 others(31): Show c.-5056_-5037dupCTTTCTTTCTTTCTTTCTTT		ANAPC5	ENSG00000089053.13	transcript	ENST00000261819.8	protein_coding					4966		chr12	TogoVar
ANAPC7_chr12_110367900_110408708	110382461	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	94	0.0106	20	c.935 others(35): Show c.935+362_935+381dupATATATATATATATATATAT		ANAPC7	ENSG00000196510.14	transcript	ENST00000455511.9	protein_coding	7/10						chr12	TogoVar
ANAPC7_chr12_110367900_110408708	110387255	C C	CAGAGAGA others(13): Show CAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	99	0.0101	20	c.674 others(35): Show c.674+464_674+483dupCTCTCTCTCTCTCTCTCTCT		ANAPC7	ENSG00000196510.14	transcript	ENST00000455511.9	protein_coding	5/10						chr12	TogoVar
ANAPC7_chr12_110367900_110408708	110387353	C C	CAGAGAGA others(13): Show CAGAGAGAGAGAGAGAGACAG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	207	0.0048	20	c.674 others(35): Show c.674+385_674+386insCTGTCTCTCTCTCTCTCTCT		ANAPC7	ENSG00000196510.14	transcript	ENST00000455511.9	protein_coding	5/10						chr12	TogoVar
ANGPT1_chr8_107244482_107502918	107256722	G G	GGAAGGCA others(13): Show GGAAGGCACTTCAAGCCTGAA	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0159 a0001c0001t0013g0159	1	290	0.0034	20	c.133 others(39): Show c.1337-4727_1337-4708dupTTCAGGCTTGAAGTGCCTTC		ANGPT1	ENSG00000154188.10	transcript	ENST00000517746.6	protein_coding	8/8						chr8	TogoVar
ANGPT1_chr8_107244482_107502918	107324215	A A	ATATGTAT others(13): Show ATATGTATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02486.hp1 NA19043.hp2 HG02258.hp2 HG02486.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0024 a0001c0001t0002 a0001c0001t0003 a0001c0001t0024	a0001c0001t0002g0268 a0001c0001t0003g0094 a0001c0001t0024g0157 a0001c0001t0002g0268 a0001c0001t0003g0094 a0001c0001t0024g0157	3	172	0.0174	20	c.576 others(37): Show c.576-2088_576-2087insCACACATATATATATACATA		ANGPT1	ENSG00000154188.10	transcript	ENST00000517746.6	protein_coding	3/8						chr8	TogoVar
ANGPT1_chr8_107244482_107502918	107333992	G G	GGGAAGGA others(13): Show GGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02717.hp2 HG03540.hp2 HG02280.hp2 HG02717.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0165 a0001c0001t0001g0243 a0001c0001t0001g0033 a0001c0001t0001g0165 a0001c0001t0001g0243	3	213	0.0141	20	c.575 others(37): Show c.575+2157_575+2158insTTCCTTCCTTCCTTCCTTCC		ANGPT1	ENSG00000154188.10	transcript	ENST00000517746.6	protein_coding	3/8						chr8	TogoVar
ANGPT1_chr8_107244482_107502918	107333996	G G	GGGAAGGA others(13): Show GGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00673.hp2 HG01069.hp1 others(14): Show HG00323.hp2 HG00673.hp2 HG01069.hp1 HG01891.hp2 HG02109.hp1 HG02135.hp2 HG02145.hp1 HG02738.hp2 HG02965.hp1 HG03195.hp1 HG03927.hp1 NA18906.hp1 NA18986.hp1 NA18987.hp2 NA19010.hp1 NA19087.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0026	a0001c0001t0001g0037 a0001c0001t0001g0148 a0001c0001t0001g0189 others(14): Show a0001c0001t0001g0037 a0001c0001t0001g0148 a0001c0001t0001g0189 a0001c0001t0001g0202 a0001c0001t0001g0207 a0001c0001t0001g0212 a0001c0001t0001g0277 a0001c0001t0002g0095 a0001c0001t0002g0124 a0001c0001t0002g0126 a0001c0001t0002g0153 a0001c0001t0004g0067 a0001c0001t0004g0098 a0001c0001t0004g0249 a0001c0001t0004g0267 a0001c0001t0007g0234 a0001c0001t0026g0092	17	46	0.3696	20	c.575 others(37): Show c.575+2134_575+2153dupTTCCTTCCTTCCTTCCTTCC		ANGPT1	ENSG00000154188.10	transcript	ENST00000517746.6	protein_coding	3/8						chr8	TogoVar
ANGPT1_chr8_107244482_107502918	107333996	G G	GGGAGGGA others(13): Show GGGAGGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA18985.hp1 HG03139.hp2 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0167 a0001c0001t0002g0003 a0001c0001t0002g0167	2	31	0.0645	20	c.575 others(37): Show c.575+2153_575+2154insTTCCTTCCTTCCTTCCCTCC		ANGPT1	ENSG00000154188.10	transcript	ENST00000517746.6	protein_coding	3/8						chr8	TogoVar
ANGPT2_chr8_6494632_6568245	6559230	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01943.hp2 HG02056.hp2 others(2): Show HG01109.hp1 HG01943.hp2 HG02056.hp2 NA18978.hp1 NA19082.hp1	a0001 a0007 a0001 a0007	a0001c0002 a0001c0003 a0007c0024 a0001c0002 a0001c0003 a0007c0024	a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 others(2): Show a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 a0001c0003t0025 a0007c0024t0001	a0001c0002t0001g0222 a0001c0002t0003g0169 a0001c0003t0001g0082 others(2): Show a0001c0002t0001g0222 a0001c0002t0003g0169 a0001c0003t0001g0082 a0001c0003t0025g0166 a0007c0024t0001g0076	5	16	0.3125	20	c.288 others(37): Show c.288+3397_288+3416dupGTGTGTGTGTGTGTGTGTGT		ANGPT2	ENSG00000091879.14	transcript	ENST00000629816.3	protein_coding	1/8						chr8	TogoVar
ANGPT2_chr8_6494632_6568245	6562552	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0006 a0001c0023t0006	a0001c0023t0006g0246 a0001c0023t0006g0246	1	8	0.1250	20	c.288 others(33): Show c.288+94_288+95insAAAAAAAAAAAAAAAAAAAA		ANGPT2	ENSG00000091879.14	transcript	ENST00000629816.3	protein_coding	1/8						chr8	TogoVar
ANGPTL1_chr1_178844535_178876077	178856198	G G	GATATATA others(13): Show GATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0022 a0001c0003t0006g0022	1	391	0.0026	20	c.824 others(37): Show c.824-2412_824-2411insATATATATATATATATATAT		ANGPTL1	ENSG00000116194.13	transcript	ENST00000234816.7	protein_coding	3/5						chr1	TogoVar
ANGPTL1_chr1_178844535_178876077	178856202	G G	GAGATATA others(13): Show GAGATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0020 a0001c0003t0006g0020	1	144	0.0069	20	c.824 others(37): Show c.824-2416_824-2415insATATATATATATATATATCT		ANGPTL1	ENSG00000116194.13	transcript	ENST00000234816.7	protein_coding	3/5						chr1	TogoVar
ANGPTL1_chr1_178844535_178876077	178856202	G G	GATATATA others(13): Show GATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02809.hp1 HG02258.hp1 HG02809.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0024 a0001c0003t0004g0072 a0001c0003t0004g0024 a0001c0003t0004g0072	2	145	0.0138	20	c.824 others(37): Show c.824-2435_824-2416dupATATATATATATATATATAT		ANGPTL1	ENSG00000116194.13	transcript	ENST00000234816.7	protein_coding	3/5						chr1	TogoVar
ANGPTL1_chr1_178844535_178876077	178856394	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03225.hp1 HG02896.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0234 a0001c0001t0005g0239 a0001c0001t0001g0234 a0001c0001t0005g0239	2	123	0.0163	20	c.824 others(37): Show c.824-2627_824-2608dupAAAAAAAAAAAAAAAAAAAA		ANGPTL1	ENSG00000116194.13	transcript	ENST00000234816.7	protein_coding	3/5						chr1	TogoVar
ANGPTL5_chr11_101885674_101921522	101889124	T T	TAAGAAAG others(13): Show TAAGAAAGAAAGAAAGAAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG01346.hp2 others(11): Show HG00099.hp2 HG00423.hp2 HG01346.hp2 HG01358.hp2 HG02109.hp1 HG03490.hp1 HG03942.hp2 NA18946.hp2 NA18947.hp2 NA18957.hp1 NA18981.hp1 NA19000.hp1 NA19058.hp1 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0053 others(11): Show a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0053 a0001c0001t0001g0262 a0001c0001t0002g0032 a0001c0001t0002g0038 a0001c0001t0002g0111 a0001c0001t0002g0124 a0001c0001t0002g0129 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0169 a0001c0001t0003g0025 a0001c0001t0003g0083	14	94	0.1489	20	c.21 others(31): Show c.2154_*2155insTCTTTCTTTCTTTCTTTCTT		ANGPTL5	ENSG00000187151.7	transcript	ENST00000334289.7	protein_coding					1549		chr11	TogoVar
ANGPTL5_chr11_101885674_101921522	101889350	A A	AGAGAAAG others(13): Show AGAGAAAGAAAGAAGAAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0130 a0001c0001t0002g0130	1	183	0.0055	20	c.19 others(31): Show c.1928_*1929insCTCTTTCTTCTTTCTTTCTC		ANGPTL5	ENSG00000187151.7	transcript	ENST00000334289.7	protein_coding					1323		chr11	TogoVar
ANGPTL6_chr19_10087338_10107678	10099533	T T	TGCCACTG others(13): Show TGCCACTGCACTCTAGCCTGG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	460	0.0022	20	c.-10 others(37): Show c.-10-2980_-10-2961dupCCAGGCTAGAGTGCAGTGGC		ANGPTL6	ENSG00000130812.11	transcript	ENST00000253109.5	protein_coding	1/5						chr19	TogoVar
ANK1_chr8_41648225_41802622	41683031	C C	CACGGACA others(13): Show CACGGACACACACACACATGT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02559.hp1 HG02572.hp2 others(12): Show HG02074.hp1 HG02559.hp1 HG02572.hp2 HG02630.hp1 HG02630.hp2 HG02809.hp2 HG02895.hp1 HG03041.hp2 HG03195.hp2 HG03471.hp2 NA18522.hp2 NA18950.hp2 NA19010.hp1 NA19068.hp1 NA19240.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0012	a0001c0006 a0001c0028 a0003c0015 others(4): Show a0001c0006 a0001c0028 a0003c0015 a0004c0011 a0004c0020 a0004c0044 a0012c0033	a0001c0006t0001 a0001c0028t0003 a0003c0015t0003 others(5): Show a0001c0006t0001 a0001c0028t0003 a0003c0015t0003 a0004c0011t0001 a0004c0011t0002 a0004c0020t0001 a0004c0044t0004 a0012c0033t0001	a0001c0006t0001g0100 a0001c0028t0003g0066 a0003c0015t0003g0136 others(11): Show a0001c0006t0001g0100 a0001c0028t0003g0066 a0003c0015t0003g0136 a0003c0015t0003g0214 a0003c0015t0003g0250 a0004c0011t0001g0185 a0004c0011t0001g0186 a0004c0011t0002g0001 a0004c0011t0002g0095 a0004c0020t0001g0034 a0004c0020t0001g0035 a0004c0020t0001g0037 a0004c0044t0004g0042 a0012c0033t0001g0107	15	276	0.0543	20	c.453 others(39): Show c.4537+1493_4537+1512dupACATGTGTGTGTGTGTCCGT		ANK1	ENSG00000029534.22	transcript	ENST00000289734.13	protein_coding	37/42						chr8	TogoVar
ANK1_chr8_41648225_41802622	41703422	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0233 a0001c0001t0002g0233	1	156	0.0064	20	c.229 others(37): Show c.2295+599_2295+618dupTATATATATATATATATATA		ANK1	ENSG00000029534.22	transcript	ENST00000289734.13	protein_coding	20/42						chr8	TogoVar
ANK1_chr8_41648225_41802622	41717010	G G	GTGCCCGG others(13): Show GTGCCCGGCTCTGGCTGCCAT	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0016 a0016	a0016c0053 a0016c0053	a0016c0053t0002 a0016c0053t0002	a0016c0053t0002g0251 a0016c0053t0002g0251	1	276	0.0036	20	c.132 others(29): Show c.1327_1346dupATGGCAGCCAGAGCCGGGCA	p.His others(5): Show p.His449fs	ANK1	ENSG00000029534.22	transcript	ENST00000289734.13	protein_coding	13/43	1430/8292	1346/5643	449/1880			chr8	TogoVar
ANK2_chr4_113044653_113388736	113149874	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18992.hp2 NA18980.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0130 a0001c0001t0001g0044 a0001c0001t0001g0130	2	37	0.0541	20	c.85- others(37): Show c.85-24535_85-24516dupAAAAAAAAAAAAAAAAAAAA		ANK2	ENSG00000145362.21	transcript	ENST00000357077.9	protein_coding	1/45					INFO_REALIGN_3_PRIME	chr4	TogoVar
ANK2_chr4_113044653_113388736	113163764	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0029 a0005c0009t0001g0029	1	93	0.0108	20	c.85- others(37): Show c.85-10643_85-10624dupAAAAAAAAAAAAAAAAAAAA		ANK2	ENSG00000145362.21	transcript	ENST00000357077.9	protein_coding	1/45					INFO_REALIGN_3_PRIME	chr4	TogoVar

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