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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
AURKC_chr19_57226023_57240548	57239587	T T	TAGAGAGA others(25): Show TAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG02602.hp2 HG02922.hp1 others(2): Show HG00735.hp1 HG02602.hp2 HG02922.hp1 HG03195.hp2 HG03831.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0001 a0003c0007t0001 a0001c0001t0001 a0003c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0042 a0003c0007t0001g0023 a0001c0001t0001g0001 a0001c0001t0001g0042 a0003c0007t0001g0023	5	91	0.0549	32	c.41 others(43): Show c.4170_*4171insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	AURKC	ENSG00000105146.14	transcript	ENST00000302804.12	protein_coding		4040		chr19	TogoVar
AUTS2_chr7_69593475_70798506	69870448	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	19	0.0526	32	c.310 others(51): Show c.310-28820_310-28819insATATATATATATATATATATATATAT ATATAT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70003479	A A	ATATATAT others(25): Show ATATATATAATATATATGAATATGTTATATATG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00597.hp1 HG01934.hp1 others(2): Show HG00280.hp1 HG00597.hp1 HG01934.hp1 HG03139.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0071 a0001c0001t0002g0047 a0001c0001t0002g0052 others(2): Show a0001c0001t0001g0071 a0001c0001t0002g0047 a0001c0001t0002g0052 a0001c0001t0003g0068 a0001c0001t0004g0042	5	55	0.0909	32	c.522 others(53): Show c.522+104078_522+104109dupTATATATAATATATATGAATATGT TATATATG	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70177300	A A	AGTGAGGA others(25): Show AGTGAGGAGCCTGAGGCTTAGATTCAGAAACCT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0040 a0001c0001t0007g0040	1	76	0.0132	32	c.660 others(51): Show c.660+42735_660+42766dupGAGCCTGAGGCTTAGATTCAGAAACC TGTGAG	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(25): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0045	1	8	0.1250	32	c.691 others(53): Show c.691-119307_691-119306insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVEN_chr15_33861227_34044204	33899460	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0084 a0001c0001t0004g0084	1	6	0.1667	32	c.446 others(51): Show c.446-23466_446-23465insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVL9_chr7_32490489_32593726	32503367	T T	TACACACA others(25): Show TACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0244 a0001c0001t0010g0244	1	95	0.0105	32	c.93+ others(47): Show c.93+7566_93+7567insCACACACACACACACACACACACACACACA CA	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVL9_chr7_32490489_32593726	32579430	A A	AATATATA others(25): Show AATATATATATAATATATAATATTATATTATAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01256.hp2 HG01258.hp1 others(2): Show HG01074.hp2 HG01256.hp2 HG01258.hp1 HG01433.hp2 HG01515.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0015 a0001c0004t0034 a0001c0004t0065 a0001c0004t0015 a0001c0004t0034 a0001c0004t0065	a0001c0004t0015g0118 a0001c0004t0015g0120 a0001c0004t0015g0161 others(2): Show a0001c0004t0015g0118 a0001c0004t0015g0120 a0001c0004t0015g0161 a0001c0004t0034g0119 a0001c0004t0065g0121	5	297	0.0168	32	c.168 others(49): Show c.1689-789_1689-788insATATATATATAATATATAATATTATATT ATAT	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	13/15			chr7	TogoVar
AVPI1_chr10_97672424_97692241	97678880	G G	GGTGTGTG others(25): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA19240.hp2 NA18944.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0045 a0002c0002t0002g0001 a0001c0001t0001g0045 a0002c0002t0002g0001	2	172	0.0116	32	c.287 others(47): Show c.287+707_287+738dupACACACACACACACACACACACACACACAC AC	AVPI1	ENSG00000119986.7	transcript	ENST00000370626.4	protein_coding	2/2			chr10	TogoVar
AVPR1A_chr12_63137759_63156201	63153334	C C	CTATCTAT others(25): Show CTATCTATCTATCTATCTATCTATCTATCTATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG03516.hp1 HG02976.hp2 HG03516.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0011 a0002c0003t0011	a0002c0003t0011g0023 a0002c0003t0011g0023	2	400	0.0050	32	c.-24 others(43): Show c.-2499_-2498insAATAGATAGATAGATAGATAGATAGATAGATA	AVPR1A	ENSG00000166148.4	transcript	ENST00000299178.4	protein_coding		2134		chr12	TogoVar
AXIN1_chr16_282440_357723	343594	T T	TCGGGAGG others(25): Show TCGGGAGGCTGAGGCAGGAGACTCACTTGAACC	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0171 a0001c0002t0001g0171	1	376	0.0027	32	c.878 others(49): Show c.878+2522_878+2553dupGGTTCAAGTGAGTCTCCTGCCTCAGCCT CCCG	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding	2/10			chr16	TogoVar
B3GALT1_chr2_167288001_167879045	167876005	A A	ATATATAT others(25): Show ATATATATATATACGTATATATATATATATACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0074 a0001c0001t0039g0074	1	114	0.0088	32	c.59 others(43): Show c.5985_*5986insTATATATATATACGTATATATATATATATACG	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding		1961		chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167876093	A A	ATATATGT others(25): Show ATATATGTATATATATATACGTATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	97	0.0103	32	c.60 others(43): Show c.6073_*6074insTATATGTATATATATATACGTATATATATATG	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding		2049		chr2	TogoVar
B3GLCT_chr13_31194975_31337276	31196186	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	113	0.0088	32	c.-38 others(43): Show c.-3899_-3898insATATATATATATATATATATATATATATATAT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3788		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0003 a0002c0010t0003	a0002c0010t0003g0012 a0002c0010t0003g0012	1	39	0.0256	32	c.-38 others(43): Show c.-3878_-3877insTATATATATATATATATATATATATATATATT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0046 a0001c0001t0004g0046	1	39	0.0256	32	c.-38 others(43): Show c.-3878_-3877insTATATATATATATATATATATATATTTTTTTT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(25): Show ATATATATATATATATATATTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp2 NA20300.hp1 NA18979.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0002 a0001c0001t0005 a0002c0002t0002	a0001c0001t0005g0202 a0002c0002t0002g0084 a0001c0001t0005g0202 a0002c0002t0002g0084	2	40	0.0500	32	c.-38 others(43): Show c.-3878_-3877insTATATATATATATATATATTTTTTTTTTTTTT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(25): Show ATATATATATATATATATTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0096 a0002c0002t0003g0096	1	39	0.0256	32	c.-38 others(43): Show c.-3878_-3877insTATATATATATATATATTTTTTTTTTTTTTTT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(25): Show ATATATATATTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0258 a0001c0001t0025g0258	1	39	0.0256	32	c.-38 others(43): Show c.-3878_-3877insTATATATATTTTTTTTTTTTTTTTTTTTTTTT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31316407	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02818.hp2 HG03471.hp2 others(2): Show HG01361.hp1 HG02818.hp2 HG03471.hp2 NA20129.hp2 NA20752.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0009 a0001c0001 a0002c0002 a0006c0009	a0001c0001t0005 a0001c0001t0007 a0002c0002t0002 others(1): Show a0001c0001t0005 a0001c0001t0007 a0002c0002t0002 a0006c0009t0002	a0001c0001t0005g0200 a0001c0001t0007g0017 a0001c0001t0007g0029 others(2): Show a0001c0001t0005g0200 a0001c0001t0007g0017 a0001c0001t0007g0029 a0002c0002t0002g0089 a0006c0009t0002g0262	5	62	0.0806	32	c.106 others(51): Show c.1065-1135_1065-1134insTATATATATATATATATATATATATA TATATA	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr13	TogoVar
B3GNT3_chr19_17790138_17818576	17807111	A A	AGTGTGTG others(25): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA19012.hp1 NA19085.hp1 NA18983.hp1 NA19012.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0199 a0001c0001t0002g0205 a0001c0001t0003g0073 a0001c0001t0002g0199 a0001c0001t0002g0205 a0001c0001t0003g0073	3	92	0.0326	32	c.-50 others(47): Show c.-50-644_-50-613dupGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT	B3GNT3	ENSG00000179913.11	transcript	ENST00000318683.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr19	TogoVar
B3GNTL1_chr17_82937149_83056770	82946569	A A	AGTGTGTG others(25): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00741.hp2 HG01109.hp1 others(5): Show HG00280.hp1 HG00741.hp2 HG01109.hp1 HG01496.hp2 HG01516.hp1 HG04199.hp2 NA18612.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 a0001c0001 a0001c0003 a0001c0006	a0001c0001t0006 a0001c0003t0009 a0001c0006t0006 a0001c0001t0006 a0001c0003t0009 a0001c0006t0006	a0001c0001t0006g0154 a0001c0001t0006g0158 a0001c0001t0006g0160 others(5): Show a0001c0001t0006g0154 a0001c0001t0006g0158 a0001c0001t0006g0160 a0001c0001t0006g0165 a0001c0001t0006g0183 a0001c0003t0009g0213 a0001c0006t0006g0007 a0001c0006t0006g0039	8	82	0.0976	32	c.24 others(47): Show c.24+309_*24+310insACACACACACACACACACACACACACACAC AC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	12/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82958798	T T	TGTGTGTG others(25): Show TGTGTGTGTGTGTATACTGTGTGGGGGTGTATG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02630.hp1 HG02818.hp2 others(6): Show HG01891.hp2 HG02630.hp1 HG02818.hp2 HG03041.hp1 HG03225.hp1 HG03579.hp1 HG03579.hp2 NA18906.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0001c0011 a0001c0014	a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 a0001c0006t0011 a0001c0006t0018 a0001c0011t0011 a0001c0014t0018	a0001c0001t0001g0185 a0001c0002t0001g0089 a0001c0002t0001g0094 others(6): Show a0001c0001t0001g0185 a0001c0002t0001g0089 a0001c0002t0001g0094 a0001c0006t0001g0018 a0001c0006t0011g0016 a0001c0006t0018g0017 a0001c0011t0011g0139 a0001c0011t0011g0140 a0001c0014t0018g0050	9	264	0.0341	32	c.681 others(49): Show c.681-1336_681-1305dupCATACACCCCCACACAGTATACACACAC ACAC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	8/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82972611	A A	ACACCACA others(25): Show ACACCACACCACGGGCCAGAAGGACCTGGTGCC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0177 a0001c0001t0002g0177	1	266	0.0038	32	c.460 others(49): Show c.460-6866_460-6865insGGCACCAGGTCCTTCTGGCCCGTGGTGT GGTG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B4GALNT4_chr11_364499_387117	375120	G G	GGAGGAAG others(25): Show GGAGGAAGGGAGGGAGGAGGAAGGGAGGGGAGT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0003 a0009c0012t0003	a0009c0012t0003g0023 a0009c0012t0003g0023	1	182	0.0055	32	c.784 others(47): Show c.784-313_784-312insGAGTGAGGAAGGGAGGGAGGAGGAAGGGAG GG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALT1_chr9_33105642_33172336	33111276	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0291 a0001c0001t0021g0291	1	280	0.0036	32	c.21 others(43): Show c.2177_*2178insGTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTT	B4GALT1	ENSG00000086062.13	transcript	ENST00000379731.5	protein_coding	6/6	2177		chr9	TogoVar
B4GALT1_chr9_33105642_33172336	33157063	T T	TACACACA others(25): Show TACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0176 a0001c0001t0020g0176	1	31	0.0323	32	c.412 others(49): Show c.412+9663_412+9694dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	B4GALT1	ENSG00000086062.13	transcript	ENST00000379731.5	protein_coding	1/5			chr9	TogoVar
BABAM2_chr2_27885729_28343901	28026852	T T	TTATATAT others(25): Show TTATATATATAAATATATATAAATATATATTTA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	98	0.0102	32	c.495 others(49): Show c.495+1442_495+1443insAATATATATAAATATATATTTATATATA TATA	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28026897	A A	AATATATA others(25): Show AATATATATAAATATATATTAATATATATAAAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02976.hp2 HG02723.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0130 a0001c0001t0002g0132 a0001c0001t0002g0130 a0001c0001t0002g0132	2	136	0.0147	32	c.495 others(49): Show c.495+1527_495+1558dupTTAATATATATAAATATATATATAAATA TATA	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28112193	C C	CCCTTCCT others(25): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01081.hp1 HG02622.hp1 others(1): Show HG00738.hp1 HG01081.hp1 HG02622.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0084 a0001c0001t0002g0033 a0001c0001t0002g0037 others(1): Show a0001c0001t0001g0084 a0001c0001t0002g0033 a0001c0001t0002g0037 a0001c0001t0002g0039	4	113	0.0354	32	c.571 others(51): Show c.571-17075_571-17074insTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28112193	C C	CCTTCCCT others(25): Show CCTTCCCTCCCTCCCTCCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0048	1	110	0.0091	32	c.571 others(51): Show c.571-17077_571-17076insTTCCCTCCCTCCCTCCCTTCCTTCCT TCCTTC	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28112197	C C	CCCTCCCT others(25): Show CCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	74	0.0135	32	c.571 others(51): Show c.571-17071_571-17070insCCCTCCCTCCCTCCCTTCCTTCCTTC CTTCCT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28112197	C C	CCCTCCCT others(25): Show CCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	74	0.0135	32	c.571 others(51): Show c.571-17071_571-17070insCCCTCCCTTCCTTCCTTCCTTCCTTC CTTCCT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28112197	C C	CCCTCCCT others(25): Show CCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	74	0.0135	32	c.571 others(51): Show c.571-17071_571-17070insCCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28112197	C C	CCCTTCCT others(25): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02970.hp2 HG03017.hp1 others(1): Show HG02027.hp1 HG02970.hp2 HG03017.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0064 a0001c0001t0002g0065 others(1): Show a0001c0001t0002g0036 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0158	4	77	0.0519	32	c.571 others(51): Show c.571-17073_571-17042dupCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28196321	C C	CGTCTCAA others(25): Show CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	139	0.0072	32	c.681 others(51): Show c.681-40881_681-40880insGTCTCAAAAAAAAAAAAAAAAAAAAA AAAAAA	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	7/11			chr2	TogoVar
BACH2_chr6_89921528_90301843	90092291	A A	AAAAAAAA others(25): Show AAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0129 a0001c0002t0129	a0001c0002t0129g0191 a0001c0002t0129g0191	1	100	0.0100	32	c.-16 others(51): Show c.-161-3183_-161-3182insATATATATATATATATATATATATTT TTTTTT	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8			chr6	TogoVar
BAD_chr11_64264830_64289665	64270406	C C	CGTGAGCC others(25): Show CGTGAGCCTTCCTCTAAGTGAGATCGGGGGGGA	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0208 a0001c0002t0001g0208	1	386	0.0026	32	c.379 others(46): Show c.379-101_379-70dupTCCCCCCCGATCTCACTTAGAGGAAGGCTCA C	BAD	ENSG00000002330.14	transcript	ENST00000309032.8	protein_coding	3/3			chr11	TogoVar
BAG3_chr10_119646380_119682819	119675887	T T	TCCTTCCC others(25): Show TCCTTCCCCCCTTCCCCTTTTCCCCCCTTCCCC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	396	0.0025	32	c.910 others(47): Show c.910-571_910-570insCCCCTTCCCCTTTTCCCCCCTTCCCCCCTT CC	BAG3	ENSG00000151929.10	transcript	ENST00000369085.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
BAG3_chr10_119646380_119682819	119675919	T T	TCCTTCCT others(25): Show TCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02258.hp1 HG02818.hp2 others(6): Show HG01891.hp2 HG02258.hp1 HG02818.hp2 HG02886.hp1 HG02922.hp2 HG02970.hp2 HG03041.hp2 HG03130.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0038 a0001c0001t0001g0204 a0001c0001t0001g0205 others(5): Show a0001c0001t0001g0038 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0003g0225	9	11	0.8182	32	c.910 others(47): Show c.910-542_910-541insTCCTTCCTCCCTCCCTCCCTCCCTCCCTCC CT	BAG3	ENSG00000151929.10	transcript	ENST00000369085.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
BAG3_chr10_119646380_119682819	119675919	T T	TCCTTCCT others(25): Show TCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0307 a0001c0001t0006g0307	1	3	0.3333	32	c.910 others(47): Show c.910-542_910-541insTCCTTCCTTCCTTCCTCCCTCCCTCCCTCC CT	BAG3	ENSG00000151929.10	transcript	ENST00000369085.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
BAIAP2L1_chr7_98286650_98406090	98357020	A A	AAAAAAAA others(25): Show AAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01943.hp1 NA19085.hp1 HG01943.hp1 NA19085.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0208 a0001c0002t0001g0217 a0001c0002t0001g0208 a0001c0002t0001g0217	2	159	0.0126	32	c.128 others(49): Show c.128-1893_128-1892insATATATATATATATATATATATTTTTTT TTTT	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	2/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98357020	A A	AAAAAAAA others(25): Show AAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA19081.hp2 NA18999.hp1 NA19081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0213 a0001c0002t0001g0242 a0001c0002t0001g0213 a0001c0002t0001g0242	2	159	0.0126	32	c.128 others(49): Show c.128-1893_128-1892insATATATATATATATATATATATATTTTT TTTT	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	2/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98357020	A A	AAAAAAAA others(25): Show AAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0234 a0001c0002t0001g0234	1	158	0.0063	32	c.128 others(49): Show c.128-1893_128-1892insATATATATATATATATATATATATATTT TTTT	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	2/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98393048	T T	TGTACATA others(25): Show TGTACATATATGTACACATATATGTATATACAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 NA18960.hp1 others(2): Show HG00408.hp1 HG00438.hp2 NA18960.hp1 NA18965.hp2 NA19066.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0017 a0001c0002t0001 a0001c0002t0017	a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0001g0277 others(2): Show a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0285 a0001c0002t0017g0202	5	296	0.0169	32	c.51+ others(47): Show c.51+7753_51+7754insGTGTATATACATATATGTGTACATATATGT AC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2_chr17_81030151_81122434	81056794	C C	CTTCTGCT others(25): Show CTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03927.hp1 NA18984.hp1 others(1): Show HG02723.hp2 HG03927.hp1 NA18984.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0303 a0001c0001t0001g0308 a0001c0001t0003g0021 others(1): Show a0001c0001t0001g0303 a0001c0001t0001g0308 a0001c0001t0003g0021 a0001c0001t0004g0311	4	63	0.0635	32	c.131 others(47): Show c.131-970_131-939dupGCTGTTGCGTTTTTCTGCTGTTGCGTTTTT CT	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAIAP2_chr17_81030151_81122434	81119229	T T	TGGGGCCG others(25): Show TGGGGCCGGGAAGGAGCGGGGCCGGGAAGGAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02055.hp1 HG02451.hp2 others(1): Show HG01884.hp1 HG02055.hp1 HG02451.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0030 others(1): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0030 a0001c0001t0045	a0001c0001t0003g0119 a0001c0001t0005g0301 a0001c0001t0030g0302 others(1): Show a0001c0001t0003g0119 a0001c0001t0005g0301 a0001c0001t0030g0302 a0001c0001t0045g0028	4	107	0.0374	32	c.33 others(43): Show c.3390_*3391insGGGGCCGGGAAGGAGCGGGGCCGGGAAGGAGC	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding		1796		chr17	TogoVar
BAIAP2_chr17_81030151_81122434	81119342	C C	CCGCGTGC others(25): Show CCGCGTGCCCTGCCTCCCGCGTGCCCTACCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0329 a0001c0001t0022g0329	1	81	0.0123	32	c.35 others(43): Show c.3503_*3504insCGCGTGCCCTGCCTCCCGCGTGCCCTACCTCT	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding		1909		chr17	TogoVar
BAMBI_chr10_28672521_28687932	28683987	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	1	132	0.0076	32	c.15 others(43): Show c.1586_*1587insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	BAMBI	ENSG00000095739.11	transcript	ENST00000375533.6	protein_coding		1056		chr10	TogoVar
BANK1_chr4_101785730_102079812	101947309	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01934.hp1 HG02809.hp2 others(1): Show HG00597.hp1 HG01934.hp1 HG02809.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0044 a0001c0001t0001g0096 a0001c0001t0001g0098 others(1): Show a0001c0001t0001g0044 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0002t0003g0231	4	180	0.0222	32	c.120 others(53): Show c.1206+29123_1206+29124insATATATATATATATATATATATAT ATATGTAT	BANK1	ENSG00000153064.12	transcript	ENST00000322953.9	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr4	TogoVar

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