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	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
ATXN7L2_chr1_109478905_109497734	109482861	C C	CGGGGGGG others(6): Show CGGGGGGGGGCGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	202	0.0050	13	c.-10 others(24): Show c.-1093_-1092insGGGGGGGGGCGGG		ATXN7L2	ENSG00000162650.17	transcript	ENST00000683729.1	protein_coding					1043		chr1	TogoVar
ATXN7L2_chr1_109478905_109497734	109482861	C C	CGGGGGGG others(6): Show CGGGGGGGGGGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0021	1	202	0.0050	13	c.-10 others(24): Show c.-1093_-1092insGGGGGGGGGGCGG		ATXN7L2	ENSG00000162650.17	transcript	ENST00000683729.1	protein_coding					1043		chr1	TogoVar
ATXN7L2_chr1_109478905_109497734	109482861	C C	CGGGGGGG others(6): Show CGGGGGGGGGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG03130.hp2 HG02109.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	2	203	0.0099	13	c.-10 others(24): Show c.-1093_-1092insGGGGGGGGGGGCG		ATXN7L2	ENSG00000162650.17	transcript	ENST00000683729.1	protein_coding					1043		chr1	TogoVar
ATXN7L2_chr1_109478905_109497734	109482862	G G	GGGGGGGG others(6): Show GGGGGGGGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 NA21309.hp1 HG06807.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	2	244	0.0082	13	c.-10 others(24): Show c.-1092_-1091insGGGGGGGGGGGGC		ATXN7L2	ENSG00000162650.17	transcript	ENST00000683729.1	protein_coding					1042		chr1	TogoVar
ATXN7L3B_chr12_74532835_74550430	74536670	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00673.hp1 HG01258.hp1 others(20): Show HG00639.hp1 HG00673.hp1 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01515.hp1 HG01891.hp1 HG01952.hp1 HG02080.hp2 HG02735.hp2 HG03654.hp2 HG03669.hp2 HG03710.hp2 NA18939.hp2 NA18946.hp1 NA18953.hp1 NA18954.hp2 NA18998.hp2 NA19003.hp1 NA19012.hp2 NA19064.hp1 NA19075.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0017 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0017 a0001c0001t0050 a0001c0001t0064	a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0017g0000 others(2): Show a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0017g0000 a0001c0001t0050g0000 a0001c0001t0064g0000	23	24	0.9583	13	c.-14 others(24): Show c.-1443_-1442insTTTTTTTTTTTTT		ATXN7L3B	ENSG00000253719.4	transcript	ENST00000519948.4	protein_coding					1164		chr12	TogoVar
ATXN7_chr3_63858867_64008462	63952835	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0009 a0008c0011t0009	a0008c0011t0009g0020 a0008c0011t0009g0020	1	66	0.0152	13	c.499 others(28): Show c.499+371_499+383dupTTTTTTTTTTTTT		ATXN7	ENSG00000163635.20	transcript	ENST00000674280.1	protein_coding	5/12					INFO_REALIGN_3_PRIME	chr3	TogoVar
AUH_chr9_91208823_91366918	91249298	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	355	0.0056	13	c.656 others(32): Show c.656-28307_656-28306insCTTTTTTTTTTTT		AUH	ENSG00000148090.12	transcript	ENST00000375731.9	protein_coding	6/9						chr9	TogoVar
AURKB_chr17_8199734_8215575	8215223	G G	GATTGGTG others(6): Show GATTGGTGCAGCAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0007 a0002c0002t0001g0007	1	426	0.0023	13	c.-47 others(24): Show c.-4720_-4719insTTGCTGCACCAAT		AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding					4649		chr17	TogoVar
AUTS2_chr7_69593475_70798506	69730019	T T	TTTTTTTT others(6): Show TTTTTTTTTTTTTA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02717.hp2 HG03041.hp1 others(1): Show HG01081.hp2 HG02717.hp2 HG03041.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0005 a0001c0001t0032 a0001c0005t0030 a0001c0001t0005 a0001c0001t0032 a0001c0005t0030	a0001c0001t0005g0012 a0001c0001t0005g0015 a0001c0001t0032g0016 others(1): Show a0001c0001t0005g0012 a0001c0001t0005g0015 a0001c0001t0032g0016 a0001c0005t0030g0013	4	62	0.0645	13	c.309 others(34): Show c.309+130057_309+130058insTTTTTTTTTTTTA		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18						chr7	TogoVar
AUTS2_chr7_69593475_70798506	69764948	C C	CTTTCTCC others(6): Show CTTTCTCCCTTTCT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	76	0.0132	13	c.310 others(34): Show c.310-134335_310-134323dupTCTCCCTTTCTTT		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69872834	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02647.hp2 HG03225.hp1 HG00099.hp2 HG02647.hp2 HG03225.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0009 a0001c0001t0035 a0002c0002t0036 a0001c0001t0009 a0001c0001t0035 a0002c0002t0036	a0001c0001t0009g0023 a0001c0001t0035g0019 a0002c0002t0036g0017 a0001c0001t0009g0023 a0001c0001t0035g0019 a0002c0002t0036g0017	3	26	0.1154	13	c.310 others(32): Show c.310-26438_310-26426dupTTTTTTTTTTTTT		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69996946	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02165.hp2 HG02717.hp2 others(2): Show HG01175.hp1 HG02165.hp2 HG02717.hp2 HG03540.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0022 a0001c0001t0032	a0001c0001t0001g0036 a0001c0001t0003g0033 a0001c0001t0009g0006 others(2): Show a0001c0001t0001g0036 a0001c0001t0003g0033 a0001c0001t0009g0006 a0001c0001t0022g0031 a0001c0001t0032g0016	5	31	0.1613	13	c.522 others(32): Show c.522+97454_522+97466dupAAAAAAAAAAAAA		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70156891	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA19240.hp1 HG01884.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0062 a0001c0001t0010g0065 a0001c0001t0002g0062 a0001c0001t0010g0065	2	15	0.1333	13	c.660 others(32): Show c.660+22344_660+22356dupAAAAAAAAAAAAA		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70245169	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0010 a0001c0001t0006g0010	1	50	0.0200	13	c.660 others(34): Show c.660+110599_660+110600insTATATATATATAA		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70283421	A A	ACAAACTG others(6): Show ACAAACTGACATGT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0039 a0001c0003t0008g0039	1	76	0.0132	13	c.660 others(34): Show c.660+148863_660+148875dupTCAAACTGACATG		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70579244	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0030 a0001c0005t0030	a0001c0005t0030g0013 a0001c0005t0030g0013	1	8	0.1250	13	c.691 others(34): Show c.691-119319_691-119307dupAAAAAAAAAAAAA		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	5/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AVEN_chr15_33861227_34044204	33871774	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02622.hp1 HG01109.hp2 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0121 a0001c0001t0005g0122 a0001c0001t0005g0121 a0001c0001t0005g0122	2	167	0.0120	13	c.517 others(28): Show c.517-757_517-745dupTTTTTTTTTTTTT		AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	3/5						chr15	TogoVar
AVEN_chr15_33861227_34044204	33918458	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG04184.hp2 HG02818.hp2 HG04184.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0002 a0004c0004t0001 a0001c0001t0002 a0004c0004t0001	a0001c0001t0002g0080 a0004c0004t0001g0015 a0001c0001t0002g0080 a0004c0004t0001g0015	2	46	0.0435	13	c.446 others(32): Show c.446-42476_446-42464dupAAAAAAAAAAAAA		AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5						chr15	TogoVar
AVIL_chr12_57792380_57823734	57818182	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	22	0.0455	13	c.-20 others(28): Show c.-20+434_-20+446dupAAAAAAAAAAAAA		AVIL	ENSG00000135407.11	transcript	ENST00000549994.2	protein_coding	1/19						chr12	TogoVar
AVL9_chr7_32490489_32593726	32551605	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02717.hp2 HG03831.hp1 HG02145.hp1 HG02717.hp2 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0022 a0001c0001t0023 a0001c0008t0096 a0001c0001t0022 a0001c0001t0023 a0001c0008t0096	a0001c0001t0022g0293 a0001c0001t0023g0248 a0001c0008t0096g0308 a0001c0001t0022g0293 a0001c0001t0023g0248 a0001c0008t0096g0308	3	58	0.0517	13	c.462 others(28): Show c.462+189_462+201dupTTTTTTTTTTTTT		AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	5/15					INFO_REALIGN_3_PRIME	chr7	TogoVar
AVL9_chr7_32490489_32593726	32572801	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp2 HG00738.hp1 others(39): Show HG00408.hp2 HG00544.hp2 HG00738.hp1 HG01081.hp1 HG01099.hp1 HG01256.hp2 HG01358.hp1 HG01515.hp2 HG01884.hp1 HG01891.hp2 HG01975.hp1 HG01981.hp1 HG01993.hp1 HG02015.hp2 HG02135.hp1 HG02280.hp2 HG02630.hp2 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03225.hp2 HG03471.hp2 HG03490.hp2 HG03492.hp2 HG03579.hp2 HG03688.hp1 HG03834.hp1 HG06807.hp1 NA18944.hp2 NA18948.hp1 NA18965.hp1 NA18966.hp1 NA19030.hp2 NA19066.hp1 NA19080.hp1 NA19085.hp1 NA20752.hp1 NA20752.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0003 a0002c0012 a0001c0004 a0002c0003 a0002c0012	a0001c0004t0015 a0001c0004t0025 a0001c0004t0034 others(17): Show a0001c0004t0015 a0001c0004t0025 a0001c0004t0034 a0001c0004t0039 a0001c0004t0077 a0001c0004t0084 a0002c0003t0005 a0002c0003t0009 a0002c0003t0012 a0002c0003t0018 a0002c0003t0024 a0002c0003t0027 a0002c0003t0038 a0002c0003t0062 a0002c0003t0063 a0002c0003t0066 a0002c0003t0082 a0002c0003t0090 a0002c0003t0099 a0002c0012t0005	a0001c0004t0015g0161 a0001c0004t0015g0322 a0001c0004t0025g0123 others(39): Show a0001c0004t0015g0161 a0001c0004t0015g0322 a0001c0004t0025g0123 a0001c0004t0025g0167 a0001c0004t0034g0119 a0001c0004t0039g0124 a0001c0004t0039g0125 a0001c0004t0077g0316 a0001c0004t0084g0113 a0002c0003t0005g0129 a0002c0003t0005g0140 a0002c0003t0005g0141 a0002c0003t0005g0142 a0002c0003t0005g0156 a0002c0003t0005g0170 a0002c0003t0005g0172 a0002c0003t0009g0003 a0002c0003t0009g0114 a0002c0003t0009g0134 a0002c0003t0009g0137 a0002c0003t0009g0325 a0002c0003t0012g0127 a0002c0003t0012g0155 a0002c0003t0012g0159 a0002c0003t0012g0160 a0002c0003t0018g0112 a0002c0003t0018g0139 a0002c0003t0018g0143 a0002c0003t0018g0168 a0002c0003t0024g0128 a0002c0003t0024g0148 a0002c0003t0027g0144 a0002c0003t0027g0145 a0002c0003t0038g0149 a0002c0003t0038g0158 a0002c0003t0062g0003 a0002c0003t0063g0146 a0002c0003t0066g0173 a0002c0003t0082g0133 a0002c0003t0090g0150 a0002c0003t0099g0192 a0002c0012t0005g0157	42	96	0.4375	13	c.135 others(30): Show c.1351-394_1351-382dupAAAAAAAAAAAAA		AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	11/15					INFO_REALIGN_3_PRIME	chr7	TogoVar
AVL9_chr7_32490489_32593726	32576457	G G	GGAGGCAA others(6): Show GGAGGCAATTTTAA	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0152 a0001c0002t0002g0152	1	328	0.0030	13	c.168 others(30): Show c.1688+386_1688+398dupGAGGCAATTTTAA		AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	13/15					INFO_REALIGN_3_PRIME	chr7	TogoVar
AVPR2_chrX_153899673_153912166	153905974	G G	GAACCGGC others(6): Show GAACCGGCCGGTGC	frameshift_variant frameshift_variant	HIGH	NA18968.hp1 NA18968.hp1	a0011 a0011	a0011c0015 a0011c0015	a0011c0015t0001 a0011c0015t0001	a0011c0015t0001g0001 a0011c0015t0001g0001	1	320	0.0031	13	c.469 others(20): Show c.469_481dupAACCGGCCGGTGC	p.Leu others(5): Show p.Leu161fs	AVPR2	ENSG00000126895.16	transcript	ENST00000646375.2	protein_coding	3/4	753/1825	482/1116	161/371		INFO_REALIGN_3_PRIME	chrX	TogoVar
AXDND1_chr1_179360971_179559735	179364532	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG01433.hp2 HG01496.hp1 others(10): Show HG01106.hp2 HG01433.hp2 HG01496.hp1 HG01934.hp2 HG01952.hp1 HG02071.hp1 HG02165.hp2 NA18943.hp2 NA18979.hp1 NA18989.hp2 NA19065.hp1 NA19079.hp1 NA20805.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0296 a0004c0005t0001g0297 a0004c0005t0001g0298 others(10): Show a0004c0005t0001g0296 a0004c0005t0001g0297 a0004c0005t0001g0298 a0004c0005t0001g0299 a0004c0005t0001g0300 a0004c0005t0001g0301 a0004c0005t0001g0302 a0004c0005t0001g0303 a0004c0005t0001g0304 a0004c0005t0001g0305 a0004c0005t0001g0306 a0004c0005t0001g0307 a0004c0005t0001g0308	13	85	0.1529	13	c.-15 others(24): Show c.-1575_-1574insTTTTTTTTTTTTT		AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding					1438		chr1	TogoVar
AXDND1_chr1_179360971_179559735	179459994	T T	TCCTTCCT others(6): Show TCCTTCCTCTCCTC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02486.hp1 HG01884.hp2 HG02486.hp1	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0001 a0009c0013t0001	a0009c0013t0001g0097 a0009c0013t0001g0098 a0009c0013t0001g0097 a0009c0013t0001g0098	2	341	0.0059	13	c.179 others(32): Show c.1799-8442_1799-8441insCTCCTCCCTTCCT		AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	16/25					INFO_REALIGN_3_PRIME	chr1	TogoVar
AXIN1_chr16_282440_357723	320743	A A	ATATATAT others(6): Show ATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0060 a0001c0003t0013g0060	1	108	0.0093	13	c.879 others(30): Show c.879-6061_879-6060insAAAAAAATATATA		AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding	2/10						chr16	TogoVar
AXIN1_chr16_282440_357723	320743	A A	ATATATTT others(6): Show ATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0231 a0001c0004t0001g0231	1	108	0.0093	13	c.879 others(30): Show c.879-6061_879-6060insAAAAAAAAATATA		AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding	2/10						chr16	TogoVar
AXIN2_chr17_65523563_65566648	65538667	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01175.hp1 NA18953.hp1 others(1): Show HG01167.hp1 HG01175.hp1 NA18953.hp1 NA18984.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0001 a0001c0005t0001 a0001c0003t0001 a0001c0005t0001	a0001c0003t0001g0261 a0001c0003t0001g0262 a0001c0005t0001g0174 others(1): Show a0001c0003t0001g0261 a0001c0003t0001g0262 a0001c0005t0001g0174 a0001c0005t0001g0189	4	20	0.2000	13	c.106 others(30): Show c.1060-337_1060-325dupTTTTTTTTTTTTT		AXIN2	ENSG00000168646.14	transcript	ENST00000307078.10	protein_coding	4/10						chr17	TogoVar
AXL_chr19_41214223_41266766	41260298	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01884.hp1 HG02486.hp1 HG02486.hp2 others(2): Show HG01884.hp1 HG02486.hp1 HG02486.hp2 HG02615.hp1 HG03491.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0009 a0001c0001 a0005c0009	a0001c0001t0031 a0001c0001t0033 a0005c0009t0033 a0001c0001t0031 a0001c0001t0033 a0005c0009t0033	a0001c0001t0031g0006 a0001c0001t0031g0150 a0001c0001t0031g0227 others(2): Show a0001c0001t0031g0006 a0001c0001t0031g0150 a0001c0001t0031g0227 a0001c0001t0033g0121 a0005c0009t0033g0273	5	52	0.0962	13	c.41 others(22): Show c.413_*425dupTTTTTTTTTTTTT		AXL	ENSG00000167601.12	transcript	ENST00000301178.9	protein_coding	20/20				426	INFO_REALIGN_3_PRIME	chr19	TogoVar
AZU1_chr19_822837_837018	823449	A A	AAAAAAAA others(6): Show AAAAAAAAACAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp1 NA18972.hp2 NA18956.hp1 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0001 a0001c0002t0001g0036 a0001c0001t0001g0001 a0001c0002t0001g0036	2	390	0.0051	13	c.-43 others(24): Show c.-4398_-4397insAAAAAAAACAAAC		AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding					4387		chr19	TogoVar
AZU1_chr19_822837_837018	823450	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02970.hp1 HG02055.hp2 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0019 a0001c0002t0001g0019	2	211	0.0095	13	c.-43 others(24): Show c.-4397_-4396insAAAAAAAAAAAAC		AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding					4386		chr19	TogoVar
AZU1_chr19_822837_837018	823450	A A	AAAAAAAA others(6): Show AAAAAAAAACAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG03704.hp2 NA18906.hp2 others(2): Show HG02109.hp2 HG03704.hp2 NA18906.hp2 NA18941.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001	a0001c0001t0001g0001 a0001c0002t0001g0005 a0001c0003t0001g0041 others(1): Show a0001c0001t0001g0001 a0001c0002t0001g0005 a0001c0003t0001g0041 a0001c0004t0001g0004	5	214	0.0234	13	c.-43 others(24): Show c.-4397_-4396insAAAAAAAACAAAC		AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding					4386		chr19	TogoVar
AZU1_chr19_822837_837018	823450	A A	AAACAAAA others(6): Show AAACAAAAAAAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0043 a0001c0003t0001g0043	1	210	0.0048	13	c.-43 others(24): Show c.-4397_-4396insAACAAAAAAAAAC		AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding					4386		chr19	TogoVar
B3GALNT2_chr1_235442190_235509452	235498843	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0083 a0001c0001t0002g0083	1	25	0.0400	13	c.113 others(30): Show c.113-4028_113-4016dupTTTTTTTTTTTTT		B3GALNT2	ENSG00000162885.14	transcript	ENST00000366600.8	protein_coding	1/11						chr1	TogoVar
B3GALT1_chr2_167288001_167879045	167647536	A A	AGTTAAGG others(6): Show AGTTAAGGATTGAG	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0117 a0001c0001t0019g0117	1	116	0.0086	13	c.-35 others(30): Show c.-352+570_-352+571insGTTAAGGATTGAG		B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	3/4						chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167848908	A A	AGATTAAT others(6): Show AGATTAATGTACAT	intron_variant intron_variant	MODIFIER	HG01496.hp1 NA21309.hp1 HG01496.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0031 a0001c0001t0022 a0001c0001t0031	a0001c0001t0022g0047 a0001c0001t0031g0041 a0001c0001t0022g0047 a0001c0001t0031g0041	2	116	0.0172	13	c.-22 others(34): Show c.-229-19901_-229-19900insTTAATGTACATGA		B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	4/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GALT2_chr1_193173730_193191613	193187102	T T	TCCCCCCC others(6): Show TCCCCCCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	134	0.0075	13	c.-12 others(24): Show c.-1205_-1204insGGGGGGGGGGGGG		B3GALT2	ENSG00000162630.6	transcript	ENST00000367434.5	protein_coding					490		chr1	TogoVar
B3GALT5_chr21_39607940_39678137	39639400	T T	TTCTTCTT others(6): Show TTCTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0090 a0002c0002t0090	a0002c0002t0090g0121 a0002c0002t0090g0121	1	175	0.0057	13	c.-39 others(32): Show c.-391-6991_-391-6990insCTTCTTTCTTTCT		B3GALT5	ENSG00000183778.19	transcript	ENST00000684187.2	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr21	TogoVar
B3GALT9_chr9_120788467_120806787	120804731	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0027 a0002c0002t0027	a0002c0002t0027g0037 a0002c0002t0027g0037	1	158	0.0063	13	c.50 others(24): Show c.5053_*5054insTTTTTTTTTTTTT		B3GALT9	ENSG00000214654.9	transcript	ENST00000689072.1	protein_coding					2945		chr9	TogoVar
B3GLCT_chr13_31194975_31337276	31213616	A A	ACCCCCCA others(6): Show ACCCCCCACCCCCC	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0142 a0002c0002t0002g0142	1	234	0.0043	13	c.71- others(28): Show c.71-1431_71-1430insCCACCCCCCCCCC		B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31213616	A A	ACCCCCCC others(6): Show ACCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0125 a0002c0002t0008g0125	1	234	0.0043	13	c.71- others(28): Show c.71-1431_71-1430insCCCCCCCCCCCCC		B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31308333	A A	AAAAAAAA others(6): Show AAAAAAAAAAATTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp2 HG02647.hp1 others(3): Show HG01891.hp2 HG02055.hp2 HG02647.hp1 HG03130.hp2 HG03540.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0088 a0001c0001t0001g0172 a0001c0001t0001g0176 others(3): Show a0001c0001t0001g0088 a0001c0001t0001g0172 a0001c0001t0001g0176 a0001c0001t0001g0254 a0001c0001t0004g0161 a0001c0001t0004g0171	6	266	0.0226	13	c.106 others(32): Show c.1065-9223_1065-9222insTTTAAAAAAAAAA		B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding	12/14					INFO_REALIGN_3_PRIME	chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31308347	T T	TAAAAAAA others(6): Show TAAAAAAAAAACAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	136	0.0074	13	c.106 others(32): Show c.1065-9209_1065-9208insCAAAAAAAAAAAA		B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding	12/14					INFO_REALIGN_3_PRIME	chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31308347	T T	TAAAAAAA others(6): Show TAAAAAAAAACAAA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	136	0.0074	13	c.106 others(32): Show c.1065-9210_1065-9209insCAAAAAAAAAAAA		B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding	12/14					INFO_REALIGN_3_PRIME	chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31308347	T T	TAAAAAAA others(6): Show TAAAAAAAACAAAA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	136	0.0074	13	c.106 others(32): Show c.1065-9211_1065-9210insCAAAAAAAAAAAA		B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding	12/14					INFO_REALIGN_3_PRIME	chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31308362	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(79): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00609.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01496.hp1 HG01952.hp2 HG01981.hp2 HG01993.hp1 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02129.hp2 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02300.hp2 HG02486.hp1 HG02698.hp1 HG02735.hp2 HG03225.hp2 HG03239.hp2 HG03491.hp2 HG03492.hp2 HG03579.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18945.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18964.hp1 NA18968.hp2 NA18975.hp2 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18990.hp1 NA18998.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19079.hp2 NA20129.hp2 NA20752.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0022 a0001c0001t0024 a0003c0005t0001	a0001c0001t0001g0002 a0001c0001t0001g0024 a0001c0001t0001g0026 others(77): Show a0001c0001t0001g0002 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0166 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0229 a0001c0001t0001g0235 a0001c0001t0001g0240 a0001c0001t0004g0041 a0001c0001t0004g0060 a0001c0001t0005g0003 a0001c0001t0005g0047 a0001c0001t0005g0068 a0001c0001t0005g0100 a0001c0001t0005g0101 a0001c0001t0005g0196 a0001c0001t0005g0197 a0001c0001t0005g0198 a0001c0001t0005g0199 a0001c0001t0005g0200 a0001c0001t0005g0202 a0001c0001t0005g0252 a0001c0001t0006g0037 a0001c0001t0006g0195 a0001c0001t0007g0020 a0001c0001t0007g0023 a0001c0001t0007g0029 a0001c0001t0007g0030 a0001c0001t0007g0114 a0001c0001t0007g0149 a0001c0001t0010g0111 a0001c0001t0010g0113 a0001c0001t0014g0184 a0001c0001t0015g0103 a0001c0001t0022g0056 a0001c0001t0024g0120 a0003c0005t0001g0075 a0003c0005t0001g0076	82	131	0.6260	13	c.106 others(32): Show c.1065-9195_1065-9194insAAACAAAAAAAAA		B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding	12/14					INFO_REALIGN_3_PRIME	chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31308362	A A	AAAAAAAC others(6): Show AAAAAAACAAAAAC	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	50	0.0200	13	c.106 others(32): Show c.1065-9198_1065-9197insCAAAAACAAAAAA		B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding	12/14					INFO_REALIGN_3_PRIME	chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31308362	A A	AAACAAAA others(6): Show AAACAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	50	0.0200	13	c.106 others(32): Show c.1065-9202_1065-9201insCAAAAAAAAACAA		B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding	12/14					INFO_REALIGN_3_PRIME	chr13	TogoVar
B3GNT3_chr19_17790138_17818576	17792577	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG03471.hp2 HG02896.hp2 HG02897.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0010 a0001c0001t0002g0270 a0001c0001t0002g0271	3	315	0.0095	13	c.-26 others(24): Show c.-2680_-2679insAAAAAAAAAAAAA		B3GNT3	ENSG00000179913.11	transcript	ENST00000318683.7	protein_coding					2560		chr19	TogoVar
B3GNT5_chr3_183248253_183278385	183257958	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	12	0.0833	13	c.-30 others(32): Show c.-302+4501_-302+4513dupTTTTTTTTTTTTT		B3GNT5	ENSG00000176597.12	transcript	ENST00000326505.4	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr3	TogoVar

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