Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
ATXN7L3B_chr12_74532835_74550430	74533845	CAAAAAAA others(15): Show CAAAAAAAAAAAAATAAAAATAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00738.hp2 HG01070.hp1 others(66): Show HG00423.hp2 HG00738.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01243.hp1 HG01258.hp2 HG01261.hp2 HG01496.hp2 HG01884.hp2 HG01978.hp2 HG02004.hp1 HG02015.hp1 HG02055.hp1 HG02109.hp1 HG02145.hp2 HG02155.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03139.hp2 HG03195.hp2 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03834.hp2 HG06807.hp1 NA18522.hp1 NA18946.hp2 NA18951.hp1 NA18953.hp2 NA18963.hp2 NA18965.hp2 NA18975.hp2 NA18991.hp2 NA19043.hp1 NA19043.hp2 NA19063.hp1 NA19074.hp2 NA19083.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0004 a0001c0002t0005 a0001c0002t0008 others(21): Show a0001c0002t0004 a0001c0002t0005 a0001c0002t0008 a0001c0002t0010 a0001c0002t0012 a0001c0002t0013 a0001c0002t0014 a0001c0002t0018 a0001c0002t0019 a0001c0002t0021 a0001c0002t0028 a0001c0002t0034 a0001c0002t0036 a0001c0002t0037 a0001c0002t0038 a0001c0002t0039 a0001c0002t0041 a0001c0002t0042 a0001c0002t0043 a0001c0002t0066 a0001c0002t0067 a0001c0002t0070 a0001c0002t0080 a0001c0004t0033	a0001c0002t0004g0000 a0001c0002t0005g0000 a0001c0002t0008g0000 others(21): Show a0001c0002t0004g0000 a0001c0002t0005g0000 a0001c0002t0008g0000 a0001c0002t0010g0000 a0001c0002t0012g0000 a0001c0002t0013g0000 a0001c0002t0014g0000 a0001c0002t0018g0000 a0001c0002t0019g0000 a0001c0002t0021g0000 a0001c0002t0028g0000 a0001c0002t0034g0000 a0001c0002t0036g0000 a0001c0002t0037g0000 a0001c0002t0038g0000 a0001c0002t0039g0000 a0001c0002t0041g0000 a0001c0002t0042g0000 a0001c0002t0043g0000 a0001c0002t0066g0000 a0001c0002t0067g0000 a0001c0002t0070g0000 a0001c0002t0080g0000 a0001c0004t0033g0000	69	406	0.1700	-22	c.-42 others(33): Show c.-4267_-4246delAAAAAAAAAAAAATAAAAATAA	ATXN7L3B	ENSG00000253719.4	transcript	ENST00000519948.4	protein_coding		3989		chr12	TogoVar
ATXN7L3B_chr12_74532835_74550430	74533854	AAAAATAA others(15): Show AAAAATAAAAATAAAAAAAAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG03139.hp1 HG03453.hp2 HG02970.hp2 HG03139.hp1 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0032 a0001c0002t0012 a0001c0002t0032	a0001c0002t0012g0000 a0001c0002t0032g0000 a0001c0002t0012g0000 a0001c0002t0032g0000	3	403	0.0074	-22	c.-42 others(33): Show c.-4258_-4237delAAAATAAAAATAAAAAAAAAAT	ATXN7L3B	ENSG00000253719.4	transcript	ENST00000519948.4	protein_coding		3980		chr12	TogoVar
ATXN7L3B_chr12_74532835_74550430	74533858	ATAAAAAT others(15): Show ATAAAAATAAAAAAAAAATAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00741.hp2 HG02451.hp2 HG00280.hp1 HG00741.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0052 a0001c0001t0016 a0001c0001t0052	a0001c0001t0016g0000 a0001c0001t0052g0000 a0001c0001t0016g0000 a0001c0001t0052g0000	3	380	0.0079	-22	c.-42 others(33): Show c.-4254_-4233delTAAAAATAAAAAAAAAATAAAT	ATXN7L3B	ENSG00000253719.4	transcript	ENST00000519948.4	protein_coding		3976		chr12	TogoVar
ATXN7_chr3_63858867_64008462	63884225	ACACACAC others(15): Show ACACACACACACACACATACTCT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0027 a0009c0016t0027	a0009c0016t0027g0199 a0009c0016t0027g0199	1	298	0.0034	-22	c.-11 others(43): Show c.-110-14158_-110-14137delATACTCTCACACACACACACAC	ATXN7	ENSG00000163635.20	transcript	ENST00000674280.1	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
AUTS2_chr7_69593475_70798506	69602040	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02615.hp2 HG03579.hp1 HG01952.hp2 HG02615.hp2 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0001c0001t0034 a0002c0002t0026 a0001c0001t0005 a0001c0001t0034 a0002c0002t0026	a0001c0001t0005g0005 a0001c0001t0034g0018 a0002c0002t0026g0011 a0001c0001t0005g0005 a0001c0001t0034g0018 a0002c0002t0026g0011	3	52	0.0577	-22	c.309 others(39): Show c.309+2110_309+2131delGTGTGTGTGTGTGTGTGTGTGT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69876484	GTATATAT others(15): Show GTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01243.hp1 HG00597.hp2 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0045 a0001c0001t0008g0063 a0001c0001t0002g0045 a0001c0001t0008g0063	2	7	0.2857	-22	c.310 others(41): Show c.310-22762_310-22741delATATATATATATATATATATAT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69946557	TACACACA others(15): Show TACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02630.hp1 HG03453.hp2 others(3): Show HG02165.hp2 HG02630.hp1 HG03453.hp2 HG04199.hp1 NA18612.hp2 NA18952.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0020 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0020 a0001c0001t0022 a0004c0006t0003	a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0003g0033 others(3): Show a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0003g0033 a0001c0001t0020g0029 a0001c0001t0022g0031 a0004c0006t0003g0030	6	7	0.8571	-22	c.522 others(41): Show c.522+47088_522+47109delACACACACACACACACACACAC	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70243231	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0054 a0001c0001t0004g0054	1	13	0.0769	-22	c.660 others(43): Show c.660+108688_660+108709delGTGTGTGTGTGTGTGTGTGTGT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70377325	AATATATA others(15): Show AATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	12	0.0833	-22	c.661 others(41): Show c.661-58399_661-58378delTATATATATATATATATATATA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70603503	CCTCCTGC others(15): Show CCTCCTGCAGCCTGTGCTGTGCT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	76	0.0132	-22	c.691 others(41): Show c.691-95060_691-95039delGCAGCCTGTGCTGTGCTCTCCT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70796445	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00597.hp1 others(16): Show HG00099.hp1 HG00280.hp1 HG00597.hp1 HG01243.hp1 HG01934.hp1 HG01934.hp2 HG02165.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp2 HG02886.hp1 HG03139.hp1 HG03139.hp2 HG03704.hp1 NA18612.hp2 NA18952.hp2 NA19240.hp1 NA19240.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0002c0002 others(2): Show a0001c0001 a0001c0004 a0002c0002 a0002c0010 a0003c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0014 a0001c0001t0035 a0001c0004t0012 a0002c0002t0024 a0002c0002t0026 a0002c0010t0033 a0003c0011t0007	a0001c0001t0001g0034 a0001c0001t0001g0058 a0001c0001t0001g0071 others(16): Show a0001c0001t0001g0034 a0001c0001t0001g0058 a0001c0001t0001g0071 a0001c0001t0002g0047 a0001c0001t0002g0049 a0001c0001t0002g0053 a0001c0001t0002g0062 a0001c0001t0003g0033 a0001c0001t0003g0068 a0001c0001t0004g0042 a0001c0001t0005g0012 a0001c0001t0008g0063 a0001c0001t0014g0070 a0001c0001t0035g0019 a0001c0004t0012g0025 a0002c0002t0024g0059 a0002c0002t0026g0011 a0002c0010t0033g0014 a0003c0011t0007g0004	19	20	0.9500	-22	c.54 others(33): Show c.5450_*5471delTTTTTTTTTTTTTTTTTTTTTT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding		2940		chr7	TogoVar
AVEN_chr15_33861227_34044204	33933518	CACACACA others(15): Show CACACACAGAGAGAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02965.hp1 HG01109.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0103 a0001c0001t0005g0122 a0001c0001t0001g0103 a0001c0001t0005g0122	2	252	0.0079	-22	c.446 others(41): Show c.446-57545_446-57524delCTCTCTCTCTCTCTCTGTGTGT	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVEN_chr15_33861227_34044204	33933520	CACACAGA others(15): Show CACACAGAGAGAGAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02486.hp2 HG03486.hp2 others(5): Show HG01070.hp1 HG02486.hp2 HG03486.hp2 HG03834.hp1 HG06807.hp2 NA18906.hp1 NA19007.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0055 a0001c0001t0001g0057 others(5): Show a0001c0001t0001g0035 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0065 a0001c0001t0001g0132 a0001c0001t0001g0214 a0001c0001t0001g0234	8	174	0.0460	-22	c.446 others(41): Show c.446-57547_446-57526delCTCTCTCTCTCTCTCTCTGTGT	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVL9_chr7_32490489_32593726	32540871	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02129.hp2 HG02155.hp2 others(18): Show HG02074.hp2 HG02129.hp2 HG02155.hp2 HG02258.hp2 HG02523.hp2 HG02723.hp2 HG02895.hp1 HG03139.hp1 HG03453.hp2 HG03516.hp2 NA18947.hp2 NA18954.hp1 NA18962.hp1 NA18970.hp2 NA18980.hp1 NA18993.hp2 NA18998.hp1 NA19003.hp2 NA19063.hp1 NA19074.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0001c0008	a0001c0001t0068 a0001c0001t0104 a0001c0001t0115 others(5): Show a0001c0001t0068 a0001c0001t0104 a0001c0001t0115 a0001c0002t0002 a0001c0002t0004 a0001c0007t0014 a0001c0008t0093 a0001c0008t0095	a0001c0001t0068g0255 a0001c0001t0104g0242 a0001c0001t0115g0243 others(17): Show a0001c0001t0068g0255 a0001c0001t0104g0242 a0001c0001t0115g0243 a0001c0002t0002g0001 a0001c0002t0002g0096 a0001c0002t0002g0098 a0001c0002t0002g0101 a0001c0002t0002g0106 a0001c0002t0002g0107 a0001c0002t0004g0001 a0001c0002t0004g0080 a0001c0002t0004g0093 a0001c0002t0004g0094 a0001c0002t0004g0095 a0001c0002t0004g0099 a0001c0002t0004g0100 a0001c0007t0014g0057 a0001c0007t0014g0058 a0001c0008t0093g0056 a0001c0008t0095g0055	21	22	0.9545	-22	c.94- others(37): Show c.94-2246_94-2225delTTTTTTTTTTTTTTTTTTTTTT	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVPI1_chr10_97672424_97692241	97678874	GGGGAGGG others(15): Show GGGGAGGGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0136 a0002c0002t0001g0136	1	442	0.0023	-22	c.287 others(37): Show c.287+723_287+744delACACACACACACACACCCTCCC	AVPI1	ENSG00000119986.7	transcript	ENST00000370626.4	protein_coding	2/2			chr10	TogoVar
AVPI1_chr10_97672424_97692241	97678880	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG03017.hp1 NA18993.hp2 HG00639.hp2 HG03017.hp1 NA18993.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0010 a0002c0002t0002g0001 a0002c0002t0002g0005 a0002c0002t0001g0010 a0002c0002t0002g0001 a0002c0002t0002g0005	3	173	0.0173	-22	c.287 others(37): Show c.287+717_287+738delACACACACACACACACACACAC	AVPI1	ENSG00000119986.7	transcript	ENST00000370626.4	protein_coding	2/2			chr10	TogoVar
AXIN2_chr17_65523563_65566648	65538667	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03195.hp1 HG03225.hp1 others(2): Show HG02965.hp2 HG03195.hp1 HG03225.hp1 HG03471.hp1 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0007 a0001c0003 a0002c0007	a0001c0003t0001 a0002c0007t0002 a0001c0003t0001 a0002c0007t0002	a0001c0003t0001g0016 a0001c0003t0001g0283 a0002c0007t0002g0161 a0001c0003t0001g0016 a0001c0003t0001g0283 a0002c0007t0002g0161	5	21	0.2381	-22	c.106 others(39): Show c.1060-346_1060-325delTTTTTTTTTTTTTTTTTTTTTT	AXIN2	ENSG00000168646.14	transcript	ENST00000307078.10	protein_coding	4/10			chr17	TogoVar
AXIN2_chr17_65523563_65566648	65564088	TCACACAC others(15): Show TCACACACACACACACACACACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0088 a0001c0002t0001g0088	1	110	0.0091	-22	c.-27 others(33): Show c.-2777_-2756delTGTGTGTGTGTGTGTGTGTGTG	AXIN2	ENSG00000168646.14	transcript	ENST00000307078.10	protein_coding		2441		chr17	TogoVar
AXL_chr19_41214223_41266766	41220228	GCCACCAC others(15): Show GCCACCACCCTTATCTCCCCCCA	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00621.hp2 HG00639.hp1 others(60): Show HG00597.hp1 HG00621.hp2 HG00639.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01175.hp2 HG01257.hp2 HG01358.hp1 HG01891.hp1 HG01891.hp2 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02080.hp1 HG02129.hp2 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp2 HG02622.hp1 HG02647.hp2 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02818.hp1 HG02895.hp2 HG02897.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03041.hp2 HG03139.hp2 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03710.hp1 HG04204.hp2 HG06807.hp2 NA18943.hp2 NA18968.hp2 NA18971.hp2 NA18975.hp1 NA18977.hp1 NA18981.hp1 NA18984.hp2 NA18986.hp2 NA18999.hp1 NA19010.hp1 NA19012.hp2 NA19043.hp1 NA19065.hp1 NA19067.hp1 NA19068.hp2 NA19088.hp2 NA19240.hp2 NA20300.hp1	a0001 a0007 a0008 a0001 a0007 a0008	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0011 a0007c0005 a0008c0006	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(27): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0018 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0030 a0001c0001t0031 a0001c0001t0033 a0001c0001t0035 a0001c0001t0050 a0001c0001t0056 a0001c0002t0009 a0001c0002t0023 a0001c0002t0029 a0001c0003t0009 a0001c0011t0011 a0007c0005t0006 a0008c0006t0015	a0001c0001t0002g0003 a0001c0001t0002g0133 a0001c0001t0002g0235 others(56): Show a0001c0001t0002g0003 a0001c0001t0002g0133 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0247 a0001c0001t0002g0257 a0001c0001t0002g0259 a0001c0001t0004g0014 a0001c0001t0004g0131 a0001c0001t0004g0229 a0001c0001t0004g0230 a0001c0001t0004g0231 a0001c0001t0004g0232 a0001c0001t0004g0260 a0001c0001t0005g0244 a0001c0001t0005g0245 a0001c0001t0005g0249 a0001c0001t0005g0258 a0001c0001t0006g0003 a0001c0001t0006g0125 a0001c0001t0006g0261 a0001c0001t0007g0122 a0001c0001t0007g0123 a0001c0001t0008g0017 a0001c0001t0009g0280 a0001c0001t0010g0124 a0001c0001t0011g0132 a0001c0001t0011g0251 a0001c0001t0011g0254 a0001c0001t0012g0226 a0001c0001t0012g0248 a0001c0001t0015g0281 a0001c0001t0018g0020 a0001c0001t0024g0134 a0001c0001t0025g0225 a0001c0001t0026g0240 a0001c0001t0026g0243 a0001c0001t0026g0256 a0001c0001t0027g0250 a0001c0001t0028g0233 a0001c0001t0030g0253 a0001c0001t0031g0227 a0001c0001t0033g0121 a0001c0001t0035g0241 a0001c0001t0050g0252 a0001c0001t0056g0224 a0001c0002t0009g0277 a0001c0002t0023g0278 a0001c0002t0023g0279 a0001c0002t0029g0228 a0001c0003t0009g0007 a0001c0003t0009g0018 a0001c0003t0009g0019 a0001c0011t0011g0255 a0007c0005t0006g0234 a0008c0006t0015g0242	63	312	0.2019	-22	c.86- others(35): Show c.86-391_86-370delCCCCCACCACCACCCTTATCTC	AXL	ENSG00000167601.12	transcript	ENST00000301178.9	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
B3GALNT2_chr1_235442190_235509452	235474971	ATATATAT others(15): Show ATATATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01074.hp1 HG00738.hp1 HG01074.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0069 a0003c0004t0002g0071 a0003c0004t0002g0069 a0003c0004t0002g0071	2	341	0.0059	-22	c.652 others(39): Show c.652-4033_652-4012delAAAAAATATATATATATATATA	B3GALNT2	ENSG00000162885.14	transcript	ENST00000366600.8	protein_coding	5/11			chr1	TogoVar
B3GALT1_chr2_167288001_167879045	167295768	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	46	0.0217	-22	c.-51 others(41): Show c.-511+2447_-511+2468delGTGTGTGTGTGTGTGTGTGTGT	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167408015	GACACACA others(15): Show GACACACACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03098.hp1 HG03579.hp1 HG02896.hp1 HG03098.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0041 a0001c0001t0001 a0001c0001t0002 a0001c0003t0041	a0001c0001t0001g0079 a0001c0001t0002g0018 a0001c0003t0041g0115 a0001c0001t0001g0079 a0001c0001t0002g0018 a0001c0003t0041g0115	3	7	0.4286	-22	c.-51 others(43): Show c.-510-82126_-510-82105delCACACACACACACACACACACA	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167625942	CATATATA others(15): Show CATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01169.hp1 HG01255.hp2 others(18): Show HG00738.hp1 HG01169.hp1 HG01255.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01496.hp2 HG02004.hp2 HG02040.hp2 HG02258.hp1 HG02683.hp1 HG02738.hp2 HG02886.hp2 HG03098.hp2 HG03225.hp2 HG03831.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18948.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0030 a0001c0001t0037 a0001c0001t0039 a0001c0001t0040 a0001c0001t0043 a0001c0001t0045	a0001c0001t0001g0007 a0001c0001t0001g0046 a0001c0001t0001g0084 others(18): Show a0001c0001t0001g0007 a0001c0001t0001g0046 a0001c0001t0001g0084 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0108 a0001c0001t0003g0059 a0001c0001t0003g0082 a0001c0001t0005g0012 a0001c0001t0007g0042 a0001c0001t0009g0034 a0001c0001t0011g0110 a0001c0001t0015g0017 a0001c0001t0017g0099 a0001c0001t0018g0093 a0001c0001t0030g0016 a0001c0001t0037g0022 a0001c0001t0039g0074 a0001c0001t0040g0086 a0001c0001t0043g0055 a0001c0001t0045g0021	21	52	0.4038	-22	c.-40 others(43): Show c.-409-20944_-409-20923delATATATATATATATATATATAT	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GAT2_chr6_70851679_70962060	70912630	AGCTGGCC others(15): Show AGCTGGCCTTATATCAGGATGAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00408.hp1 others(190): Show HG00099.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00741.hp1 HG01069.hp1 HG01074.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01433.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp2 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02622.hp2 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18747.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18955.hp1 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18974.hp2 NA18975.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18984.hp1 NA18984.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19005.hp1 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19057.hp1 NA19058.hp2 NA19062.hp1 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp1 NA19078.hp1 NA19078.hp2 NA19081.hp1 NA19083.hp1 NA19084.hp2 NA19085.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(66): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0044 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0102 a0001c0001t0103 a0001c0001t0104 a0001c0001t0105 a0001c0001t0107 a0001c0001t0108 a0001c0001t0109 a0001c0001t0110 a0001c0001t0111 a0001c0002t0011 a0001c0002t0022 a0001c0002t0029 a0001c0002t0030 a0001c0002t0031 a0001c0002t0086 a0001c0002t0090 a0001c0002t0092 a0001c0002t0093 a0002c0004t0063	a0001c0001t0001g0002 a0001c0001t0001g0042 a0001c0001t0001g0044 others(189): Show a0001c0001t0001g0002 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0080 a0001c0001t0001g0102 a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0144 a0001c0001t0001g0157 a0001c0001t0001g0161 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0002g0035 a0001c0001t0002g0038 a0001c0001t0002g0046 a0001c0001t0002g0051 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0066 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0073 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0159 a0001c0001t0002g0174 a0001c0001t0003g0036 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0103 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0132 a0001c0001t0003g0134 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0139 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0155 a0001c0001t0003g0169 a0001c0001t0004g0053 a0001c0001t0004g0057 a0001c0001t0004g0075 a0001c0001t0004g0099 a0001c0001t0004g0109 a0001c0001t0004g0113 a0001c0001t0004g0126 a0001c0001t0004g0133 a0001c0001t0004g0140 a0001c0001t0004g0141 a0001c0001t0004g0149 a0001c0001t0004g0162 a0001c0001t0004g0164 a0001c0001t0004g0165 a0001c0001t0009g0048 a0001c0001t0009g0084 a0001c0001t0009g0093 a0001c0001t0009g0096 a0001c0001t0009g0118 a0001c0001t0009g0156 a0001c0001t0009g0160 a0001c0001t0010g0040 a0001c0001t0010g0052 a0001c0001t0010g0072 a0001c0001t0010g0085 a0001c0001t0010g0095 a0001c0001t0010g0124 a0001c0001t0010g0158 a0001c0001t0012g0010 a0001c0001t0012g0011 a0001c0001t0012g0023 a0001c0001t0012g0026 a0001c0001t0012g0028 a0001c0001t0012g0031 a0001c0001t0013g0034 a0001c0001t0013g0050 a0001c0001t0013g0086 a0001c0001t0013g0097 a0001c0001t0013g0117 a0001c0001t0013g0129 a0001c0001t0017g0008 a0001c0001t0017g0019 a0001c0001t0017g0020 a0001c0001t0017g0029 a0001c0001t0018g0007 a0001c0001t0018g0013 a0001c0001t0018g0014 a0001c0001t0018g0015 a0001c0001t0019g0018 a0001c0001t0019g0024 a0001c0001t0019g0025 a0001c0001t0020g0054 a0001c0001t0020g0067 a0001c0001t0020g0079 a0001c0001t0020g0098 a0001c0001t0023g0077 a0001c0001t0023g0078 a0001c0001t0023g0087 a0001c0001t0024g0041 a0001c0001t0024g0125 a0001c0001t0024g0130 a0001c0001t0025g0110 a0001c0001t0025g0111 a0001c0001t0025g0138 a0001c0001t0032g0005 a0001c0001t0032g0027 a0001c0001t0033g0076 a0001c0001t0033g0115 a0001c0001t0034g0107 a0001c0001t0034g0148 a0001c0001t0035g0045 a0001c0001t0035g0167 a0001c0001t0036g0142 a0001c0001t0037g0062 a0001c0001t0037g0089 a0001c0001t0044g0303 a0001c0001t0044g0305 a0001c0001t0046g0017 a0001c0001t0047g0016 a0001c0001t0048g0009 a0001c0001t0049g0012 a0001c0001t0050g0022 a0001c0001t0051g0006 a0001c0001t0052g0021 a0001c0001t0053g0033 a0001c0001t0054g0032 a0001c0001t0055g0131 a0001c0001t0056g0116 a0001c0001t0057g0074 a0001c0001t0058g0083 a0001c0001t0059g0163 a0001c0001t0060g0120 a0001c0001t0061g0094 a0001c0001t0064g0166 a0001c0001t0065g0068 a0001c0001t0066g0143 a0001c0001t0067g0114 a0001c0001t0068g0168 a0001c0001t0070g0112 a0001c0001t0071g0039 a0001c0001t0072g0037 a0001c0001t0073g0108 a0001c0001t0074g0088 a0001c0001t0075g0135 a0001c0001t0076g0176 a0001c0001t0102g0302 a0001c0001t0103g0307 a0001c0001t0104g0304 a0001c0001t0105g0306 a0001c0001t0107g0311 a0001c0001t0108g0312 a0001c0001t0109g0309 a0001c0001t0110g0310 a0001c0001t0111g0313 a0001c0002t0011g0269 a0001c0002t0022g0265 a0001c0002t0022g0268 a0001c0002t0022g0298 a0001c0002t0029g0299 a0001c0002t0030g0262 a0001c0002t0030g0263 a0001c0002t0030g0301 a0001c0002t0031g0266 a0001c0002t0086g0183 a0001c0002t0090g0300 a0001c0002t0092g0264 a0001c0002t0093g0267 a0002c0004t0063g0175	193	314	0.6147	-22	c.592 others(41): Show c.592-18380_592-18359delATCATCCTGATATAAGGCCAGC	B3GAT2	ENSG00000112309.11	transcript	ENST00000230053.11	protein_coding	1/3			chr6	TogoVar
B3GNT6_chr11_77029398_77046973	77032640	CATATATA others(15): Show CATATATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp1 NA20752.hp1 HG03239.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	198	0.0101	-22	c.-18 others(33): Show c.-1838_-1817delATATATATATATATATATATAT	B3GNT6	ENSG00000198488.10	transcript	ENST00000622824.1	protein_coding		1757		chr11	TogoVar
B3GNTL1_chr17_82937149_83056770	83006607	CGCTGTGC others(15): Show CGCTGTGCTATCCCGACGCCGTG	C C	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA19081.hp1 NA18965.hp1 NA19081.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0009 a0001c0002 a0002c0009	a0001c0002t0002 a0002c0009t0013 a0001c0002t0002 a0002c0009t0013	a0001c0002t0002g0066 a0002c0009t0013g0067 a0001c0002t0002g0066 a0002c0009t0013g0067	2	266	0.0075	-22	c.364 others(39): Show c.364-1419_364-1398delCACGGCGTCGGGATAGCACAGC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	5/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83025225	ACACACAC others(15): Show ACACACACGGACACCGCGGAGTC	A A	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0002 a0001c0012t0002	a0001c0012t0002g0080 a0001c0012t0002g0080	1	266	0.0038	-22	c.297 others(39): Show c.297+9788_297+9809delGACTCCGCGGTGTCCGTGTGTG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
B4GALNT3_chr12_454939_568509	511013	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02559.hp2 HG02886.hp1 others(2): Show HG02109.hp1 HG02559.hp2 HG02886.hp1 NA19043.hp1 NA19043.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0013 a0005c0006 a0001c0001 a0001c0013 a0005c0006	a0001c0001t0028 a0001c0013t0001 a0001c0013t0020 others(2): Show a0001c0001t0028 a0001c0013t0001 a0001c0013t0020 a0005c0006t0002 a0005c0006t0033	a0001c0001t0028g0048 a0001c0013t0001g0128 a0001c0013t0020g0129 others(2): Show a0001c0001t0028g0048 a0001c0013t0001g0128 a0001c0013t0020g0129 a0005c0006t0002g0198 a0005c0006t0033g0127	5	44	0.1136	-22	c.170 others(41): Show c.170-24132_170-24111delTTTTTTTTTTTTTTTTTTTTTT	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT4_chr11_364499_387117	374220	GTCCTGAG others(15): Show GTCCTGAGAATGAGGCCATTGGA	G G	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0013 a0013	a0013c0020 a0013c0020	a0013c0020t0001 a0013c0020t0001	a0013c0020t0001g0046 a0013c0020t0001g0046	1	182	0.0055	-22	c.783 others(37): Show c.783+394_783+415delCCTGAGAATGAGGCCATTGGAT	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALT1_chr9_33105642_33172336	33162258	AGTTTCTG others(15): Show AGTTTCTGAAAGAAGAAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	364	0.0027	-22	c.412 others(39): Show c.412+4478_412+4499delCTTCCTTTCTTCTTTCAGAAAC	B4GALT1	ENSG00000086062.13	transcript	ENST00000379731.5	protein_coding	1/5			chr9	TogoVar
B4GALT3_chr1_161166310_161182507	161167602	TCGCCCAG others(15): Show TCGCCCAGGATGGAGTGCAATGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	372	0.0027	-22	c.41 others(33): Show c.4192_*4213delCCATTGCACTCCATCCTGGGCG	B4GALT3	ENSG00000158850.15	transcript	ENST00000319769.10	protein_coding		3707		chr1	TogoVar
BABAM2_chr2_27885729_28343901	28231785	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03225.hp1 HG03098.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0139 a0001c0001t0001g0088 a0001c0001t0001g0139	2	8	0.2500	-22	c.681 others(39): Show c.681-5400_681-5379delTTTTTTTTTTTTTTTTTTTTTT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BACE2_chr21_41163160_41287530	41179133	TCAGGGTG others(15): Show TCAGGGTGAGGAGTGAGGGTGTC	T T	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0146 a0001c0001t0029g0146	1	270	0.0037	-22	c.312 others(41): Show c.312+10581_312+10602delCAGGGTGAGGAGTGAGGGTGTC	BACE2	ENSG00000182240.16	transcript	ENST00000330333.11	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr21	TogoVar
BACE2_chr21_41163160_41287530	41179236	TGTCCAGG others(15): Show TGTCCAGGGTGAGGAGTGAGGGA	T T	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	270	0.0037	-22	c.312 others(41): Show c.312+10698_312+10719delGTGAGGGAGTCCAGGGTGAGGA	BACE2	ENSG00000182240.16	transcript	ENST00000330333.11	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr21	TogoVar
BACH2_chr6_89921528_90301843	89959097	GCACACAC others(15): Show GCACACACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01256.hp1 HG02071.hp2 others(2): Show HG00099.hp1 HG01256.hp1 HG02071.hp2 HG03669.hp1 HG04199.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0015 a0001c0002 a0003c0015	a0001c0002t0053 a0001c0002t0098 a0001c0002t0103 others(2): Show a0001c0002t0053 a0001c0002t0098 a0001c0002t0103 a0001c0002t0121 a0003c0015t0105	a0001c0002t0053g0040 a0001c0002t0098g0098 a0001c0002t0103g0105 others(2): Show a0001c0002t0053g0040 a0001c0002t0098g0098 a0001c0002t0103g0105 a0001c0002t0121g0120 a0003c0015t0105g0156	5	19	0.2632	-22	c.244 others(39): Show c.244-7257_244-7236delTGTGTGTGTGTGTGTGTGTGTG	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	6/8			chr6	TogoVar
BAG6_chr6_31634028_31657661	31648376	TCCTCCAC others(15): Show TCCTCCACAAGTTGGTTTCCCAG	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01361.hp1 HG02280.hp1 others(19): Show HG01106.hp1 HG01361.hp1 HG02280.hp1 HG02698.hp2 HG02809.hp1 HG02976.hp2 HG03209.hp1 NA18906.hp1 NA18945.hp2 NA18963.hp1 NA18984.hp2 NA18990.hp2 NA18992.hp1 NA18995.hp1 NA19002.hp2 NA19054.hp2 NA19062.hp1 NA19079.hp2 NA19083.hp1 NA19085.hp1 NA19087.hp1 NA20300.hp2	a0002 a0002	a0002c0003 a0002c0009 a0002c0003 a0002c0009	a0002c0003t0001 a0002c0009t0001 a0002c0003t0001 a0002c0009t0001	a0002c0003t0001g0008 a0002c0003t0001g0040 a0002c0003t0001g0053 others(12): Show a0002c0003t0001g0008 a0002c0003t0001g0040 a0002c0003t0001g0053 a0002c0003t0001g0093 a0002c0003t0001g0094 a0002c0003t0001g0095 a0002c0003t0001g0096 a0002c0003t0001g0097 a0002c0003t0001g0098 a0002c0003t0001g0099 a0002c0003t0001g0101 a0002c0003t0001g0184 a0002c0003t0001g0185 a0002c0003t0001g0186 a0002c0009t0001g0052	22	426	0.0516	-22	c.552 others(37): Show c.552+279_552+300delCTGGGAAACCAACTTGTGGAGG	BAG6	ENSG00000204463.14	transcript	ENST00000676615.2	protein_coding	6/25			chr6	TogoVar
BAIAP2_chr17_81030151_81122434	81119129	CCAGGTGA others(15): Show CCAGGTGAGGGCCAGGTGAGGGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00558.hp1 HG00597.hp1 others(73): Show HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00639.hp2 HG00738.hp1 HG00741.hp2 HG01071.hp1 HG01074.hp1 HG01168.hp2 HG01256.hp2 HG01346.hp1 HG01358.hp2 HG01884.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02148.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp1 HG02523.hp1 HG02559.hp2 HG02615.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03453.hp1 HG03490.hp1 HG03654.hp2 HG03688.hp1 HG03831.hp1 HG03927.hp2 HG04115.hp1 NA18522.hp1 NA18522.hp2 NA18939.hp2 NA18942.hp1 NA18946.hp1 NA18950.hp2 NA18954.hp2 NA18960.hp1 NA18963.hp2 NA18964.hp1 NA18969.hp1 NA18975.hp1 NA18979.hp1 NA18984.hp2 NA18993.hp1 NA18994.hp2 NA18997.hp1 NA18998.hp1 NA19005.hp1 NA19030.hp1 NA19043.hp1 NA19057.hp1 NA19057.hp2 NA19085.hp1 NA19088.hp1 NA19090.hp2 NA20300.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0008 others(4): Show a0001c0001 a0001c0003 a0001c0008 a0002c0002 a0002c0005 a0002c0012 a0002c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0019 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0019 a0001c0001t0034 a0001c0001t0040 a0001c0003t0002 a0001c0008t0017 a0002c0002t0002 a0002c0002t0021 a0002c0002t0025 a0002c0002t0026 a0002c0002t0032 a0002c0005t0002 a0002c0012t0002 a0002c0014t0007	a0001c0001t0001g0332 a0001c0001t0002g0058 a0001c0001t0002g0059 others(73): Show a0001c0001t0001g0332 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0019g0011 a0001c0001t0019g0024 a0001c0001t0034g0063 a0001c0001t0040g0321 a0001c0003t0002g0342 a0001c0008t0017g0368 a0001c0008t0017g0369 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0066 a0002c0002t0002g0074 a0002c0002t0002g0097 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0103 a0002c0002t0002g0105 a0002c0002t0002g0108 a0002c0002t0002g0109 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0002g0112 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0002g0122 a0002c0002t0002g0123 a0002c0002t0002g0124 a0002c0002t0002g0125 a0002c0002t0002g0126 a0002c0002t0002g0128 a0002c0002t0002g0129 a0002c0002t0002g0130 a0002c0002t0002g0131 a0002c0002t0002g0134 a0002c0002t0002g0149 a0002c0002t0002g0151 a0002c0002t0002g0155 a0002c0002t0002g0156 a0002c0002t0002g0157 a0002c0002t0002g0158 a0002c0002t0002g0160 a0002c0002t0002g0164 a0002c0002t0002g0165 a0002c0002t0002g0168 a0002c0002t0002g0172 a0002c0002t0002g0183 a0002c0002t0002g0186 a0002c0002t0002g0201 a0002c0002t0002g0207 a0002c0002t0002g0283 a0002c0002t0002g0296 a0002c0002t0002g0297 a0002c0002t0002g0305 a0002c0002t0002g0327 a0002c0002t0002g0343 a0002c0002t0002g0344 a0002c0002t0021g0090 a0002c0002t0025g0223 a0002c0002t0026g0198 a0002c0002t0032g0166 a0002c0005t0002g0234 a0002c0005t0002g0267 a0002c0005t0002g0322 a0002c0005t0002g0323 a0002c0005t0002g0326 a0002c0012t0002g0359 a0002c0014t0007g0348	76	364	0.2088	-22	c.32 others(33): Show c.3291_*3312delCAGGTGAGGGCCAGGTGAGGGT	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding		1696		chr17	TogoVar
BAIAP2_chr17_81030151_81122434	81119140	CCAGGTGA others(15): Show CCAGGTGAGGGTCAGGTGAGGGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(116): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00408.hp1 HG00438.hp2 HG00609.hp2 HG00639.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01192.hp2 HG01255.hp1 HG01257.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01891.hp1 HG01928.hp1 HG01952.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02080.hp1 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02300.hp2 HG02602.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02965.hp1 HG03017.hp2 HG03130.hp1 HG03486.hp1 HG03490.hp2 HG03492.hp1 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03927.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp1 NA18939.hp1 NA18942.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18949.hp2 NA18950.hp1 NA18952.hp2 NA18954.hp1 NA18959.hp1 NA18959.hp2 NA18963.hp1 NA18966.hp1 NA18969.hp2 NA18975.hp2 NA18977.hp2 NA18979.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18993.hp2 NA18995.hp1 NA18999.hp1 NA19000.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19063.hp1 NA19064.hp1 NA19066.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19091.hp2 NA20752.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0007 others(3): Show a0001c0001 a0001c0003 a0001c0007 a0001c0015 a0002c0002 a0003c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(14): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0015 a0001c0001t0018 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0042 a0001c0001t0048 a0001c0003t0001 a0001c0003t0041 a0001c0007t0001 a0001c0015t0003 a0002c0002t0031 a0003c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0008 others(115): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0057 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0106 a0001c0001t0001g0115 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0144 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0162 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0188 a0001c0001t0001g0194 a0001c0001t0001g0210 a0001c0001t0001g0216 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0285 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0298 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0308 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0324 a0001c0001t0001g0328 a0001c0001t0001g0331 a0001c0001t0001g0334 a0001c0001t0001g0338 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0356 a0001c0001t0001g0363 a0001c0001t0001g0364 a0001c0001t0003g0072 a0001c0001t0003g0190 a0001c0001t0003g0208 a0001c0001t0003g0286 a0001c0001t0009g0054 a0001c0001t0009g0070 a0001c0001t0009g0089 a0001c0001t0015g0221 a0001c0001t0015g0228 a0001c0001t0018g0010 a0001c0001t0035g0187 a0001c0001t0036g0289 a0001c0001t0037g0360 a0001c0001t0038g0068 a0001c0001t0042g0365 a0001c0001t0048g0029 a0001c0003t0001g0142 a0001c0003t0001g0215 a0001c0003t0001g0219 a0001c0003t0001g0232 a0001c0003t0001g0237 a0001c0003t0001g0238 a0001c0003t0001g0241 a0001c0003t0001g0242 a0001c0003t0001g0243 a0001c0003t0001g0244 a0001c0003t0001g0245 a0001c0003t0001g0246 a0001c0003t0001g0247 a0001c0003t0001g0249 a0001c0003t0001g0250 a0001c0003t0001g0251 a0001c0003t0001g0254 a0001c0003t0001g0263 a0001c0003t0001g0265 a0001c0003t0041g0148 a0001c0007t0001g0037 a0001c0007t0001g0038 a0001c0015t0003g0335 a0002c0002t0031g0361 a0003c0010t0001g0048	119	291	0.4089	-22	c.33 others(33): Show c.3302_*3323delCAGGTGAGGGTCAGGTGAGGGT	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding		1707		chr17	TogoVar
BANK1_chr4_101785730_102079812	101839937	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	29	0.0345	-22	c.469 others(39): Show c.469+9759_469+9780delTTTTTTTTTTTTTTTTTTTTTT	BANK1	ENSG00000153064.12	transcript	ENST00000322953.9	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr4	TogoVar
BANK1_chr4_101785730_102079812	102002544	TACACACA others(15): Show TACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02738.hp2 HG03688.hp1 others(2): Show HG02602.hp2 HG02738.hp2 HG03688.hp1 HG04115.hp1 HG04228.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0046 a0001c0002t0001g0110 a0001c0002t0001g0111 others(2): Show a0001c0002t0001g0046 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0113	5	23	0.2174	-22	c.120 others(43): Show c.1207-18946_1207-18925delCACACACACACACACACACACA	BANK1	ENSG00000153064.12	transcript	ENST00000322953.9	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr4	TogoVar
BARD1_chr2_214720646_214814683	214751103	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTATATATA	G G	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0019 a0019	a0019c0023 a0019c0023	a0019c0023t0004 a0019c0023t0004	a0019c0023t0004g0284 a0019c0023t0004g0284	1	342	0.0029	-22	c.167 others(41): Show c.1677+1322_1677+1343delTATATATACACACACACACACA	BARD1	ENSG00000138376.11	transcript	ENST00000260947.9	protein_coding	7/10			chr2	TogoVar
BATF2_chr11_64982945_65001971	64983502	TTATTTTA others(15): Show TTATTTTATTTTATTTTATTTTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG02055.hp1 HG02886.hp1 others(1): Show HG01074.hp2 HG02055.hp1 HG02886.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	4	402	0.0100	-22	c.56 others(33): Show c.5605_*5626delTAAAATAAAATAAAATAAAATA	BATF2	ENSG00000168062.10	transcript	ENST00000301887.9	protein_coding		4442		chr11	TogoVar
BAZ1A_chr14_34747731_34880360	34798134	CTGCTGAG others(15): Show CTGCTGAGGGGCGTGTCCGCCAT	C C	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0144 a0001c0002t0003g0144	1	378	0.0026	-22	c.112 others(41): Show c.1128+2068_1128+2089delATGGCGGACACGCCCCTCAGCA	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	9/26			chr14	TogoVar
BAZ2B_chr2_159313979_159621548	159324625	TACACACA others(15): Show TACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00558.hp1 HG00673.hp1 others(27): Show HG00099.hp2 HG00558.hp1 HG00673.hp1 HG01109.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01934.hp2 HG02132.hp1 HG02132.hp2 HG02280.hp2 HG03017.hp1 HG03654.hp1 HG03834.hp1 NA18946.hp1 NA18949.hp1 NA18960.hp2 NA18986.hp2 NA18998.hp1 NA19055.hp1 NA19066.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19079.hp1 NA19081.hp1 NA19082.hp1 NA19083.hp1 NA20129.hp1 NA21309.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0005 a0006 a0013 a0018 a0020 a0021	a0001c0001 a0001c0029 a0002c0002 others(7): Show a0001c0001 a0001c0029 a0002c0002 a0003c0003 a0005c0005 a0006c0006 a0013c0030 a0018c0026 a0020c0032 a0021c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0029t0001 a0002c0002t0002 a0003c0003t0001 a0005c0005t0001 a0005c0005t0002 a0006c0006t0002 a0013c0030t0001 a0018c0026t0001 a0020c0032t0002 a0021c0021t0002	a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0025 others(27): Show a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0002g0144 a0001c0001t0002g0152 a0001c0001t0002g0175 a0001c0001t0002g0193 a0001c0001t0002g0195 a0001c0001t0003g0001 a0001c0001t0007g0086 a0001c0029t0001g0111 a0002c0002t0002g0143 a0002c0002t0002g0206 a0003c0003t0001g0031 a0005c0005t0001g0094 a0005c0005t0002g0203 a0006c0006t0002g0145 a0013c0030t0001g0039 a0018c0026t0001g0079 a0020c0032t0002g0154 a0021c0021t0002g0171	30	108	0.2778	-22	c.635 others(39): Show c.6353+164_6353+185delGTGTGTGTGTGTGTGTGTGTGT	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	36/36			chr2	TogoVar
BBS5_chr2_169474494_169511655	169489851	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02647.hp2 HG01175.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0208 a0001c0001t0001g0200 a0001c0001t0001g0208	2	14	0.1429	-22	c.386 others(39): Show c.386+1757_386+1778delTTTTTTTTTTTTTTTTTTTTTT	BBS5	ENSG00000163093.12	transcript	ENST00000295240.8	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BBS9_chr7_33124564_33611069	33294331	ATCTATCT others(15): Show ATCTATCTATCTATCTATCTATC	A A	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02155.hp1 HG02165.hp2 others(5): Show HG01981.hp2 HG02155.hp1 HG02165.hp2 HG02293.hp2 HG03834.hp2 NA19000.hp2 NA19085.hp1 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0016 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0016 a0002c0002t0001 a0002c0002t0005	a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0057 others(5): Show a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0005g0067 a0001c0001t0016g0071 a0002c0002t0001g0194 a0002c0002t0005g0192	8	261	0.0307	-22	c.101 others(43): Show c.1016+20379_1016+20400delATCTATCTATCTATCTATCTCT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33437094	TGGAATCT others(15): Show TGGAATCTATCTGTCCATCACAA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0019 a0002c0002t0019	a0002c0002t0019g0043 a0002c0002t0019g0043	1	266	0.0038	-22	c.211 others(43): Show c.2115+48952_2115+48973delGAATCTATCTGTCCATCACAAG	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBX_chr3_107517962_107816339	107584672	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0154 a0002c0002t0002g0154	1	21	0.0476	-22	c.-84 others(41): Show c.-84+58289_-84+58310delTTTTTTTTTTTTTTTTTTTTTT	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BCAP29_chr7_107575246_107625478	107612391	TTATATAT others(15): Show TTATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0320 a0001c0001t0002g0321	2	110	0.0182	-22	c.590 others(37): Show c.590-913_590-892delATATATATATATATATATATAT	BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAS3_chr17_60672851_61397831	60754680	TACACACA others(15): Show TACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03041.hp2 HG03130.hp2 others(2): Show HG01891.hp2 HG03041.hp2 HG03130.hp2 HG03453.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0005 a0002c0007 a0001c0004 a0002c0005 a0002c0007	a0001c0004t0001 a0002c0005t0001 a0002c0007t0001 a0001c0004t0001 a0002c0005t0001 a0002c0007t0001	a0001c0004t0001g0034 a0002c0005t0001g0018 a0002c0005t0001g0019 others(2): Show a0001c0004t0001g0034 a0002c0005t0001g0018 a0002c0005t0001g0019 a0002c0005t0001g0020 a0002c0007t0001g0004	5	27	0.1852	-22	c.403 others(39): Show c.403+7441_403+7462delCACACACACACACACACACACA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr17	TogoVar

Search by Variant

Search

Search Results