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
BCAS3_chr17_60672851_61397831	60973585	T T	TTATATAT others(3): Show TTATATATATA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03540.hp1 HG02922.hp1 HG03540.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0002 a0002c0005t0001 a0002c0005t0002	a0002c0005t0001g0073 a0002c0005t0002g0074 a0002c0005t0001g0073 a0002c0005t0002g0074	2	74	0.0270	10	c.122 others(31): Show c.1222-16386_1222-16385insTATATATATA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	14/23			chr17	TogoVar
BCAS3_chr17_60672851_61397831	60973585	T T	TTTTATAT others(3): Show TTTTATATATA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0042 a0001c0002t0001g0042	1	74	0.0135	10	c.122 others(31): Show c.1222-16386_1222-16385insTTTATATATA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	14/23			chr17	TogoVar
BCAS3_chr17_60672851_61397831	60992189	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG01952.hp1 NA19043.hp2 HG01952.hp1 NA19043.hp2	a0002 a0003 a0002 a0003	a0002c0003 a0003c0001 a0002c0003 a0003c0001	a0002c0003t0001 a0003c0001t0002 a0002c0003t0001 a0003c0001t0002	a0002c0003t0001g0037 a0003c0001t0002g0032 a0002c0003t0001g0037 a0003c0001t0002g0032	2	74	0.0270	10	c.148 others(29): Show c.1486+1987_1486+1996dupACACACACAC	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	15/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	60992189	T T	TCCACACA others(3): Show TCCACACACAC	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02809.hp1 HG03041.hp2 others(1): Show HG01952.hp2 HG02809.hp1 HG03041.hp2 HG03579.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0002c0005 a0003c0001 a0001c0002 a0002c0005 a0003c0001	a0001c0002t0002 a0002c0005t0001 a0003c0001t0001 others(1): Show a0001c0002t0002 a0002c0005t0001 a0003c0001t0001 a0003c0001t0002	a0001c0002t0002g0057 a0002c0005t0001g0018 a0003c0001t0001g0028 others(1): Show a0001c0002t0002g0057 a0002c0005t0001g0018 a0003c0001t0001g0028 a0003c0001t0002g0022	4	74	0.0541	10	c.148 others(29): Show c.1486+1954_1486+1955insCCACACACAC	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	15/23			chr17	TogoVar
BCAS3_chr17_60672851_61397831	61002475	C C	CAACTTTT others(3): Show CAACTTTTCTA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01099.hp1 HG01891.hp2 others(43): Show HG00639.hp1 HG01099.hp1 HG01891.hp2 HG01952.hp2 HG02083.hp2 HG02145.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 NA18906.hp1 NA18906.hp2 NA18951.hp2 NA19030.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0002 a0001c0004 a0001c0008 others(7): Show a0001c0002 a0001c0004 a0001c0008 a0002c0003 a0002c0005 a0002c0006 a0002c0007 a0003c0001 a0003c0010 a0004c0009	a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 others(12): Show a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 a0001c0004t0002 a0001c0008t0002 a0002c0003t0001 a0002c0003t0002 a0002c0005t0001 a0002c0005t0002 a0002c0006t0002 a0002c0007t0001 a0003c0001t0001 a0003c0001t0002 a0003c0010t0002 a0004c0009t0001	a0001c0002t0001g0042 a0001c0002t0001g0056 a0001c0002t0001g0059 others(43): Show a0001c0002t0001g0042 a0001c0002t0001g0056 a0001c0002t0001g0059 a0001c0002t0001g0061 a0001c0002t0001g0063 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0071 a0001c0002t0002g0001 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0057 a0001c0002t0002g0064 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0004t0001g0045 a0001c0004t0001g0046 a0001c0004t0001g0058 a0001c0004t0002g0044 a0001c0008t0002g0062 a0002c0003t0001g0015 a0002c0003t0001g0016 a0002c0003t0001g0017 a0002c0003t0001g0038 a0002c0003t0001g0040 a0002c0003t0001g0041 a0002c0003t0001g0052 a0002c0003t0002g0036 a0002c0003t0002g0048 a0002c0005t0001g0014 a0002c0005t0001g0018 a0002c0005t0001g0019 a0002c0005t0001g0020 a0002c0005t0001g0051 a0002c0005t0001g0073 a0002c0005t0002g0074 a0002c0006t0002g0027 a0002c0006t0002g0030 a0002c0007t0001g0004 a0003c0001t0001g0011 a0003c0001t0001g0028 a0003c0001t0002g0022 a0003c0010t0002g0023 a0004c0009t0001g0055	46	74	0.6216	10	c.148 others(31): Show c.1486+12241_1486+12242insACTTTTCTAA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	15/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61038670	T T	TTTTGTTT others(3): Show TTTTGTTTTTG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01099.hp1 HG01891.hp2 others(38): Show HG00639.hp1 HG01099.hp1 HG01891.hp2 HG01952.hp2 HG02083.hp2 HG02145.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03579.hp2 NA18906.hp1 NA18906.hp2 NA18951.hp2 NA19030.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0002 a0001c0004 a0001c0008 others(7): Show a0001c0002 a0001c0004 a0001c0008 a0002c0003 a0002c0005 a0002c0006 a0002c0007 a0003c0001 a0003c0010 a0004c0009	a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 others(11): Show a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 a0001c0004t0002 a0001c0008t0002 a0002c0003t0001 a0002c0003t0002 a0002c0005t0001 a0002c0006t0002 a0002c0007t0001 a0003c0001t0001 a0003c0001t0002 a0003c0010t0002 a0004c0009t0001	a0001c0002t0001g0042 a0001c0002t0001g0056 a0001c0002t0001g0059 others(38): Show a0001c0002t0001g0042 a0001c0002t0001g0056 a0001c0002t0001g0059 a0001c0002t0001g0061 a0001c0002t0001g0063 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0071 a0001c0002t0002g0001 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0057 a0001c0002t0002g0064 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0004t0001g0045 a0001c0004t0001g0046 a0001c0004t0001g0058 a0001c0004t0002g0044 a0001c0008t0002g0062 a0002c0003t0001g0038 a0002c0003t0001g0040 a0002c0003t0001g0041 a0002c0003t0001g0052 a0002c0003t0002g0036 a0002c0003t0002g0048 a0002c0005t0001g0014 a0002c0005t0001g0018 a0002c0005t0001g0019 a0002c0005t0001g0020 a0002c0005t0001g0051 a0002c0005t0001g0073 a0002c0006t0002g0027 a0002c0006t0002g0030 a0002c0007t0001g0004 a0003c0001t0001g0011 a0003c0001t0002g0022 a0003c0010t0002g0023 a0004c0009t0001g0055	41	74	0.5541	10	c.192 others(27): Show c.1928+619_1928+620insGTTTTTGTTT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	18/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61042891	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0014 a0002c0005t0001g0014	1	74	0.0135	10	c.202 others(29): Show c.2029+2014_2029+2023dupAAAAAAAAAA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61045823	T T	TTCTCTCT others(3): Show TTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0039 a0002c0003t0002g0039	1	74	0.0135	10	c.202 others(29): Show c.2029+4949_2029+4958dupCTCTCTCTCT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61045954	A A	ATATATAT others(3): Show ATATATATATT	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA19240.hp1 HG03130.hp2 NA19240.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0019 a0002c0005t0001g0020 a0002c0005t0001g0019 a0002c0005t0001g0020	2	74	0.0270	10	c.202 others(29): Show c.2029+5062_2029+5063insTATATATATT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23			chr17	TogoVar
BCAS3_chr17_60672851_61397831	61045966	A A	ATATATAT others(3): Show ATATATATATT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0002 a0003c0001t0002	a0003c0001t0002g0022 a0003c0001t0002g0022	1	74	0.0135	10	c.202 others(29): Show c.2029+5083_2029+5084insTTATATATAT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61059063	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0033 a0002c0003t0001g0033	1	74	0.0135	10	c.203 others(31): Show c.2030-15829_2030-15820dupTTTTTTTTTT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61067271	G G	GTATGTAT others(3): Show GTATGTATATA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0044 a0001c0004t0002g0044	1	74	0.0135	10	c.203 others(29): Show c.2030-7648_2030-7647insATGTATATAT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61067273	G G	GTATATAT others(3): Show GTATATATATA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03098.hp2 HG02970.hp1 HG03098.hp2	a0001 a0003 a0001 a0003	a0001c0004 a0003c0001 a0001c0004 a0003c0001	a0001c0004t0001 a0003c0001t0001 a0001c0004t0001 a0003c0001t0001	a0001c0004t0001g0049 a0003c0001t0001g0026 a0001c0004t0001g0049 a0003c0001t0001g0026	2	74	0.0270	10	c.203 others(29): Show c.2030-7613_2030-7604dupATATATATAT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61070366	A A	AATATATA others(3): Show AATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01952.hp1 HG02145.hp1 others(5): Show HG01891.hp1 HG01952.hp1 HG02145.hp1 HG02897.hp1 HG03209.hp1 HG03471.hp1 NA18951.hp1 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0004 a0001c0008 a0003c0001 a0001c0004 a0001c0008 a0003c0001	a0001c0004t0001 a0001c0004t0002 a0001c0008t0002 others(2): Show a0001c0004t0001 a0001c0004t0002 a0001c0008t0002 a0003c0001t0001 a0003c0001t0002	a0001c0004t0001g0047 a0001c0004t0002g0035 a0001c0008t0002g0062 others(5): Show a0001c0004t0001g0047 a0001c0004t0002g0035 a0001c0008t0002g0062 a0003c0001t0001g0002 a0003c0001t0001g0003 a0003c0001t0001g0006 a0003c0001t0001g0024 a0003c0001t0002g0032	8	74	0.1081	10	c.203 others(29): Show c.2030-4529_2030-4520dupATATATATAT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61095844	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02970.hp2 HG02818.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0067 a0001c0002t0002g0070 a0001c0002t0001g0067 a0001c0002t0002g0070	2	74	0.0270	10	c.242 others(31): Show c.2425+11300_2425+11309dupCACACACACA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61109283	T T	TTGTGTGT others(3): Show TTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0062 a0001c0008t0002g0062	1	74	0.0135	10	c.242 others(31): Show c.2425+24743_2425+24752dupGTGTGTGTGT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61191780	A A	AAAAAGAA others(3): Show AAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01952.hp2 HG02486.hp2 others(3): Show HG01099.hp1 HG01952.hp2 HG02486.hp2 HG02615.hp1 HG02922.hp1 HG03225.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0002c0005 a0004c0009 a0001c0002 a0002c0005 a0004c0009	a0001c0002t0001 a0001c0002t0002 a0002c0005t0001 others(1): Show a0001c0002t0001 a0001c0002t0002 a0002c0005t0001 a0004c0009t0001	a0001c0002t0001g0042 a0001c0002t0001g0056 a0001c0002t0002g0054 others(3): Show a0001c0002t0001g0042 a0001c0002t0001g0056 a0001c0002t0002g0054 a0001c0002t0002g0057 a0002c0005t0001g0073 a0004c0009t0001g0055	6	74	0.0811	10	c.242 others(33): Show c.2425+107236_2425+107245dupGAAAAGAAAA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61192246	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA21309.hp1 HG03209.hp2 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0068 a0001c0002t0002g0069	2	74	0.0270	10	c.242 others(33): Show c.2425+107689_2425+107698dupAAAAAAAAAA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61216516	G G	GTTTATTT others(3): Show GTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01952.hp2 HG02145.hp1 others(21): Show HG01891.hp2 HG01952.hp2 HG02145.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02809.hp1 HG02897.hp1 HG02922.hp2 HG02970.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp2 HG03195.hp2 HG03453.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 NA19043.hp1 NA19240.hp1 NA19240.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0004 a0001c0008 others(4): Show a0001c0002 a0001c0004 a0001c0008 a0002c0003 a0002c0005 a0002c0007 a0003c0001	a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 others(8): Show a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 a0001c0004t0002 a0001c0008t0002 a0002c0003t0001 a0002c0003t0002 a0002c0005t0001 a0002c0007t0001 a0003c0001t0001 a0003c0001t0002	a0001c0002t0001g0042 a0001c0002t0001g0056 a0001c0002t0001g0060 others(21): Show a0001c0002t0001g0042 a0001c0002t0001g0056 a0001c0002t0001g0060 a0001c0002t0001g0063 a0001c0002t0001g0066 a0001c0002t0002g0057 a0001c0004t0001g0049 a0001c0004t0002g0050 a0001c0004t0002g0072 a0001c0008t0002g0062 a0002c0003t0001g0016 a0002c0003t0001g0017 a0002c0003t0001g0038 a0002c0003t0001g0041 a0002c0003t0002g0039 a0002c0005t0001g0018 a0002c0005t0001g0019 a0002c0007t0001g0004 a0003c0001t0001g0002 a0003c0001t0001g0005 a0003c0001t0001g0026 a0003c0001t0001g0028 a0003c0001t0002g0022 a0003c0001t0002g0029	24	74	0.3243	10	c.242 others(33): Show c.2425+131980_2425+131989dupTATTTTATTT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61246792	A A	AGTGTGTG others(3): Show AGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03579.hp1 NA19030.hp1 HG03195.hp1 HG03579.hp1 NA19030.hp1	a0002 a0003 a0002 a0003	a0002c0003 a0003c0001 a0002c0003 a0003c0001	a0002c0003t0002 a0003c0001t0001 a0002c0003t0002 a0003c0001t0001	a0002c0003t0002g0036 a0003c0001t0001g0025 a0003c0001t0001g0028 a0002c0003t0002g0036 a0003c0001t0001g0025 a0003c0001t0001g0028	3	74	0.0405	10	c.242 others(33): Show c.2426-121506_2426-121497dupGTGTGTGTGT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61254777	G G	GAAAAAAA others(3): Show GAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0028 a0003c0001t0001g0028	1	74	0.0135	10	c.242 others(33): Show c.2426-113547_2426-113538dupAAAAAAAAAA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61271424	A A	ATTTTTTT others(3): Show ATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0057 a0001c0002t0002g0057	1	74	0.0135	10	c.242 others(31): Show c.2426-96899_2426-96890dupTTTTTTTTTT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61277616	T T	TAGAATAT others(3): Show TAGAATATATA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02083.hp1 HG02145.hp2 others(24): Show HG01099.hp1 HG02083.hp1 HG02145.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02615.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02897.hp1 HG02970.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03540.hp1 HG03540.hp2 NA18906.hp1 NA19030.hp2 NA19043.hp2 NA19240.hp1 NA20129.hp1 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0004 a0001c0008 others(4): Show a0001c0002 a0001c0004 a0001c0008 a0002c0003 a0002c0005 a0002c0006 a0003c0001	a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 others(10): Show a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 a0001c0004t0002 a0001c0008t0002 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0005t0001 a0002c0005t0002 a0002c0006t0002 a0003c0001t0001 a0003c0001t0002	a0001c0002t0001g0059 a0001c0002t0001g0063 a0001c0002t0001g0071 others(24): Show a0001c0002t0001g0059 a0001c0002t0001g0063 a0001c0002t0001g0071 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0069 a0001c0004t0001g0045 a0001c0004t0001g0046 a0001c0004t0001g0049 a0001c0004t0002g0050 a0001c0004t0002g0072 a0001c0008t0002g0062 a0002c0003t0001g0017 a0002c0003t0001g0033 a0002c0003t0001g0037 a0002c0003t0001g0052 a0002c0003t0002g0036 a0002c0003t0003g0013 a0002c0005t0001g0019 a0002c0005t0002g0074 a0002c0006t0002g0030 a0003c0001t0001g0007 a0003c0001t0001g0009 a0003c0001t0001g0021 a0003c0001t0001g0026 a0003c0001t0002g0022 a0003c0001t0002g0029	27	74	0.3649	10	c.242 others(31): Show c.2426-90706_2426-90697dupTATATAAGAA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61285231	T T	TTGTGTGT others(3): Show TTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03195.hp1 HG03540.hp1 others(2): Show HG02809.hp1 HG03195.hp1 HG03540.hp1 NA19240.hp1 NA20129.hp1	a0002 a0003 a0002 a0003	a0002c0003 a0002c0005 a0002c0006 others(1): Show a0002c0003 a0002c0005 a0002c0006 a0003c0001	a0002c0003t0002 a0002c0005t0001 a0002c0005t0002 others(2): Show a0002c0003t0002 a0002c0005t0001 a0002c0005t0002 a0002c0006t0002 a0003c0001t0002	a0002c0003t0002g0036 a0002c0005t0001g0019 a0002c0005t0002g0074 others(2): Show a0002c0003t0002g0036 a0002c0005t0001g0019 a0002c0005t0002g0074 a0002c0006t0002g0030 a0003c0001t0002g0022	5	74	0.0676	10	c.242 others(31): Show c.2426-83078_2426-83069dupGTGTGTGTGT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61322856	C C	CAGAGAGA others(3): Show CAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0047 a0001c0004t0001g0047	1	74	0.0135	10	c.242 others(31): Show c.2426-45456_2426-45447dupAGAGAGAGAG	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61375218	T T	TTGTGTGT others(3): Show TTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02145.hp1 HG02615.hp1 HG01891.hp1 HG02145.hp1 HG02615.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0001c0004 a0003c0001 a0001c0002 a0001c0004 a0003c0001	a0001c0002t0001 a0001c0004t0001 a0003c0001t0001 a0001c0002t0001 a0001c0004t0001 a0003c0001t0001	a0001c0002t0001g0056 a0001c0004t0001g0047 a0003c0001t0001g0002 a0001c0002t0001g0056 a0001c0004t0001g0047 a0003c0001t0001g0002	3	74	0.0405	10	c.259 others(29): Show c.2593+6752_2593+6761dupGTGTGTGTGT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAT1_chr12_24805024_24954101	24836908	G G	GAAAGAAA others(3): Show GAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02717.hp1 HG03041.hp2 HG02135.hp1 HG02717.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0001 a0001c0001t0002 a0001c0001t0009	a0001c0001t0001g0218 a0001c0001t0002g0265 a0001c0001t0009g0159 a0001c0001t0001g0218 a0001c0001t0002g0265 a0001c0001t0009g0159	3	322	0.0093	10	c.818 others(25): Show c.818-313_818-312insTTCTTTCTTT	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	7/10			chr12	TogoVar
BCAT1_chr12_24805024_24954101	24844894	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp2 HG00642.hp1 others(4): Show HG00544.hp1 HG00558.hp2 HG00642.hp1 HG00673.hp2 HG02071.hp1 HG02080.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0032 others(2): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0032 a0001c0001t0047 a0001c0001t0131	a0001c0001t0003g0215 a0001c0001t0005g0222 a0001c0001t0005g0228 others(4): Show a0001c0001t0003g0215 a0001c0001t0005g0222 a0001c0001t0005g0228 a0001c0001t0032g0139 a0001c0001t0032g0276 a0001c0001t0047g0313 a0001c0001t0131g0308	7	322	0.0217	10	c.675 others(27): Show c.675-2680_675-2671dupTTTTTTTTTT	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	6/10			chr12	TogoVar
BCAT1_chr12_24805024_24954101	24874856	G G	GGTGTCTA others(3): Show GGTGTCTATAA	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0003 a0005c0005t0003	a0005c0005t0003g0080 a0005c0005t0003g0080	1	322	0.0031	10	c.510 others(27): Show c.510+3664_510+3673dupTTATAGACAC	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	5/10			chr12	TogoVar
BCAT1_chr12_24805024_24954101	24887061	T T	TAAAAAAA others(3): Show TAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00544.hp2 HG00741.hp1 others(23): Show HG00280.hp1 HG00544.hp2 HG00741.hp1 HG01099.hp1 HG01243.hp1 HG01496.hp2 HG01993.hp2 HG02074.hp1 HG02080.hp1 HG02132.hp1 HG02273.hp1 HG02300.hp1 HG02683.hp1 HG02717.hp1 HG03710.hp2 HG03942.hp2 NA18747.hp2 NA18906.hp2 NA18943.hp2 NA18961.hp1 NA18967.hp2 NA18974.hp2 NA18975.hp1 NA19002.hp1 NA19088.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0001t0012 a0001c0001t0017 a0001c0001t0027 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0105 a0001c0001t0123 a0001c0001t0129 a0002c0004t0044	a0001c0001t0001g0010 a0001c0001t0001g0125 a0001c0001t0001g0135 others(23): Show a0001c0001t0001g0010 a0001c0001t0001g0125 a0001c0001t0001g0135 a0001c0001t0001g0141 a0001c0001t0001g0168 a0001c0001t0002g0020 a0001c0001t0002g0198 a0001c0001t0002g0204 a0001c0001t0002g0207 a0001c0001t0002g0234 a0001c0001t0002g0252 a0001c0001t0002g0273 a0001c0001t0004g0118 a0001c0001t0009g0159 a0001c0001t0012g0061 a0001c0001t0012g0288 a0001c0001t0017g0180 a0001c0001t0027g0249 a0001c0001t0048g0315 a0001c0001t0048g0316 a0001c0001t0049g0303 a0001c0001t0050g0301 a0001c0001t0105g0150 a0001c0001t0123g0051 a0001c0001t0129g0297 a0002c0004t0044g0179	26	322	0.0808	10	c.280 others(27): Show c.280-5660_280-5651dupTTTTTTTTTT	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	3/10			chr12	TogoVar
BCAT1_chr12_24805024_24954101	24887061	T T	TAAAAATA others(3): Show TAAAAATAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp2 HG00609.hp1 others(17): Show HG00544.hp1 HG00558.hp2 HG00609.hp1 HG00673.hp2 HG01255.hp1 HG01358.hp1 HG01934.hp2 HG01993.hp1 HG02071.hp1 HG02080.hp2 HG02165.hp2 HG02602.hp1 HG03017.hp1 HG03669.hp2 HG03710.hp1 HG04204.hp1 NA18941.hp1 NA19057.hp2 NA19063.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0032 a0001c0001t0047 a0001c0001t0054 a0001c0002t0019 a0001c0002t0031	a0001c0001t0001g0064 a0001c0001t0001g0094 a0001c0001t0003g0034 others(17): Show a0001c0001t0001g0064 a0001c0001t0001g0094 a0001c0001t0003g0034 a0001c0001t0003g0048 a0001c0001t0003g0240 a0001c0001t0003g0242 a0001c0001t0005g0222 a0001c0001t0005g0224 a0001c0001t0005g0228 a0001c0001t0009g0214 a0001c0001t0032g0139 a0001c0001t0032g0276 a0001c0001t0047g0312 a0001c0001t0047g0313 a0001c0001t0054g0174 a0001c0002t0019g0043 a0001c0002t0019g0069 a0001c0002t0019g0172 a0001c0002t0031g0036 a0001c0002t0031g0241	20	322	0.0621	10	c.280 others(27): Show c.280-5651_280-5650insTTTTATTTTT	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	3/10			chr12	TogoVar
BCAT1_chr12_24805024_24954101	24887080	A A	AAAAAAAA others(3): Show AAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01123.hp1 HG01255.hp2 others(13): Show HG00642.hp2 HG01123.hp1 HG01255.hp2 HG01257.hp1 HG02273.hp2 HG02486.hp1 HG03831.hp2 HG04115.hp2 NA18942.hp2 NA18952.hp2 NA18957.hp1 NA19000.hp2 NA19062.hp1 NA19062.hp2 NA19087.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0017 a0001c0001t0018 a0001c0001t0028 a0001c0001t0104 a0001c0001t0111 a0001c0001t0118 a0001c0001t0126	a0001c0001t0001g0167 a0001c0001t0001g0188 a0001c0001t0001g0235 others(13): Show a0001c0001t0001g0167 a0001c0001t0001g0188 a0001c0001t0001g0235 a0001c0001t0002g0096 a0001c0001t0002g0145 a0001c0001t0004g0109 a0001c0001t0004g0110 a0001c0001t0004g0155 a0001c0001t0007g0014 a0001c0001t0017g0090 a0001c0001t0018g0166 a0001c0001t0028g0203 a0001c0001t0104g0071 a0001c0001t0111g0146 a0001c0001t0118g0089 a0001c0001t0126g0062	16	322	0.0497	10	c.280 others(27): Show c.280-5670_280-5669insATTTTTTTTT	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	3/10			chr12	TogoVar
BCAT1_chr12_24805024_24954101	24887080	A A	AAAAAAAA others(3): Show AAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02965.hp1 HG02683.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0088 a0001c0001t0052 a0001c0001t0088	a0001c0001t0052g0199 a0001c0001t0088g0099 a0001c0001t0052g0199 a0001c0001t0088g0099	2	322	0.0062	10	c.280 others(27): Show c.280-5670_280-5669insATATTTTTTT	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	3/10			chr12	TogoVar
BCAT1_chr12_24805024_24954101	24892059	T T	TTTTTGTT others(3): Show TTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03831.hp1 NA18747.hp1 others(1): Show HG03017.hp2 HG03831.hp1 NA18747.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0041 a0001c0001t0084 a0001c0001t0001 a0001c0001t0041 a0001c0001t0084	a0001c0001t0001g0037 a0001c0001t0001g0246 a0001c0001t0041g0008 others(1): Show a0001c0001t0001g0037 a0001c0001t0001g0246 a0001c0001t0041g0008 a0001c0001t0084g0038	4	322	0.0124	10	c.279 others(27): Show c.279+2206_279+2215dupCAAAACAAAA	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	3/10			chr12	TogoVar
BCAT1_chr12_24805024_24954101	24892093	T T	TGTTTTGT others(3): Show TGTTTTGTTTC	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0224 a0001c0001t0005g0224	1	322	0.0031	10	c.279 others(27): Show c.279+2181_279+2182insGAAACAAAAC	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	3/10			chr12	TogoVar
BCAT1_chr12_24805024_24954101	24898520	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00639.hp2 others(30): Show HG00099.hp1 HG00280.hp2 HG00639.hp2 HG01070.hp2 HG01243.hp1 HG01515.hp1 HG01517.hp2 HG01891.hp2 HG01975.hp2 HG02040.hp2 HG02165.hp1 HG02258.hp2 HG02273.hp2 HG02559.hp1 HG02602.hp2 HG02897.hp1 HG03239.hp2 HG03492.hp2 NA18939.hp1 NA18942.hp1 NA18947.hp2 NA18957.hp2 NA18959.hp1 NA18964.hp1 NA18969.hp1 NA18972.hp2 NA18974.hp2 NA19056.hp1 NA19062.hp1 NA19062.hp2 NA19077.hp2 NA19085.hp1 NA19091.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0003 a0006c0010 a0001c0001 a0001c0003 a0006c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0018 a0001c0001t0022 a0001c0001t0036 a0001c0001t0043 a0001c0001t0051 a0001c0001t0059 a0001c0001t0099 a0001c0001t0101 a0001c0001t0118 a0001c0001t0120 a0001c0001t0122 a0001c0003t0001 a0001c0003t0007 a0006c0010t0002	a0001c0001t0001g0009 a0001c0001t0001g0067 a0001c0001t0001g0092 others(30): Show a0001c0001t0001g0009 a0001c0001t0001g0067 a0001c0001t0001g0092 a0001c0001t0001g0128 a0001c0001t0001g0168 a0001c0001t0001g0188 a0001c0001t0002g0020 a0001c0001t0004g0109 a0001c0001t0006g0187 a0001c0001t0006g0209 a0001c0001t0007g0244 a0001c0001t0008g0045 a0001c0001t0010g0309 a0001c0001t0010g0320 a0001c0001t0010g0322 a0001c0001t0012g0063 a0001c0001t0012g0108 a0001c0001t0018g0116 a0001c0001t0018g0117 a0001c0001t0022g0112 a0001c0001t0036g0081 a0001c0001t0043g0253 a0001c0001t0051g0302 a0001c0001t0059g0013 a0001c0001t0099g0201 a0001c0001t0101g0184 a0001c0001t0118g0089 a0001c0001t0120g0152 a0001c0001t0122g0082 a0001c0003t0001g0113 a0001c0003t0007g0040 a0001c0003t0007g0101 a0006c0010t0002g0076	33	322	0.1025	10	c.78+ others(25): Show c.78+3284_78+3293dupAAAAAAAAAA	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	2/10			chr12	TogoVar
BCAT1_chr12_24805024_24954101	24951590	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 NA20300.hp2 HG02145.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0035 a0001c0001t0021 a0001c0001t0035	a0001c0001t0021g0105 a0001c0001t0035g0104 a0001c0001t0021g0105 a0001c0001t0035g0104	2	322	0.0062	10	c.-26 others(21): Show c.-2659_-2658insTTTTTTTTTT	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding		2490		chr12	TogoVar
BCAT2_chr19_48790064_48816029	48811494	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG02145.hp2 NA19240.hp2 HG01433.hp1 HG02145.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0002g0063 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0002g0063	3	408	0.0074	10	c.-48 others(19): Show c.-488_-487insTTTTTTTTTT	BCAT2	ENSG00000105552.15	transcript	ENST00000316273.11	protein_coding		466		chr19	TogoVar
BCCIP_chr10_125818546_125841551	125826996	T T	TAAAAAAA others(3): Show TAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	446	0.0022	10	c.240 others(25): Show c.240+340_240+341insAAAAAAAAAA	BCCIP	ENSG00000107949.17	transcript	ENST00000278100.11	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
BCHE_chr3_165767904_165842423	165791948	A A	AAAAATAA others(3): Show AAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00673.hp2 HG02080.hp1 others(16): Show HG00621.hp1 HG00673.hp2 HG02080.hp1 HG02083.hp1 HG02258.hp2 HG02615.hp1 HG02622.hp1 HG02735.hp1 HG02922.hp2 HG02965.hp2 HG03098.hp1 HG03516.hp2 HG03669.hp1 NA18522.hp1 NA18939.hp1 NA19012.hp1 NA19012.hp2 NA19070.hp2 NA21309.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0004 a0001c0001 a0002c0002 a0005c0004	a0001c0001t0001 a0001c0001t0002 a0002c0002t0008 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0008 a0005c0004t0004	a0001c0001t0001g0048 a0001c0001t0001g0160 a0001c0001t0001g0187 others(13): Show a0001c0001t0001g0048 a0001c0001t0001g0160 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0194 a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0216 a0001c0001t0002g0005 a0001c0001t0002g0019 a0002c0002t0008g0119 a0002c0002t0008g0121 a0005c0004t0004g0032	19	304	0.0625	10	c.151 others(29): Show c.1518-5647_1518-5638dupATTTTATTTT	BCHE	ENSG00000114200.10	transcript	ENST00000264381.8	protein_coding	2/3			chr3	TogoVar
BCKDHA_chr19_41392818_41430002	41429825	G G	GTTTCTTT others(3): Show GTTTCTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	374	0.0027	10	c.52 others(21): Show c.5217_*5218insTTTCTTTTTT	BCKDHA	ENSG00000248098.12	transcript	ENST00000269980.7	protein_coding		4824		chr19	TogoVar
BCKDHB_chr6_80101671_80351270	80107516	T T	TATATATA others(3): Show TATATATATGC	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0022 a0001c0003t0022	a0001c0003t0022g0106 a0001c0003t0022g0106	1	294	0.0034	10	c.196 others(25): Show c.196+635_196+636insGCATATATAT	BCKDHB	ENSG00000083123.15	transcript	ENST00000320393.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
BCKDHB_chr6_80101671_80351270	80107518	T T	TATATATA others(3): Show TATATATATGC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00609.hp1 others(50): Show HG00408.hp2 HG00423.hp1 HG00609.hp1 HG01069.hp2 HG01071.hp1 HG01257.hp1 HG01258.hp2 HG01943.hp1 HG02083.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp2 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02886.hp1 HG02896.hp1 HG03017.hp1 HG03041.hp1 HG03209.hp2 HG03453.hp1 HG03491.hp1 HG03492.hp1 HG03654.hp1 HG03704.hp2 HG03831.hp1 NA18522.hp2 NA18939.hp2 NA18940.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp2 NA18953.hp2 NA18960.hp2 NA18965.hp1 NA18971.hp2 NA18973.hp2 NA18977.hp1 NA18978.hp2 NA18979.hp2 NA18982.hp1 NA18995.hp2 NA19001.hp1 NA19003.hp1 NA19007.hp1 NA19012.hp2 NA19060.hp2 NA19062.hp2 NA19070.hp2 NA19080.hp2 NA19084.hp1 NA20905.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0013 a0001c0001t0032 a0001c0001t0033 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0002c0002t0004	a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0205 others(50): Show a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0205 a0001c0001t0004g0141 a0001c0001t0004g0142 a0001c0001t0004g0143 a0001c0001t0004g0148 a0001c0001t0004g0174 a0001c0001t0004g0175 a0001c0001t0004g0176 a0001c0001t0004g0177 a0001c0001t0004g0178 a0001c0001t0004g0181 a0001c0001t0004g0183 a0001c0001t0004g0184 a0001c0001t0004g0185 a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0189 a0001c0001t0004g0190 a0001c0001t0004g0191 a0001c0001t0004g0192 a0001c0001t0004g0211 a0001c0001t0004g0212 a0001c0001t0004g0213 a0001c0001t0005g0193 a0001c0001t0005g0194 a0001c0001t0005g0195 a0001c0001t0005g0196 a0001c0001t0005g0197 a0001c0001t0005g0198 a0001c0001t0005g0199 a0001c0001t0005g0203 a0001c0001t0005g0204 a0001c0001t0005g0216 a0001c0001t0005g0217 a0001c0001t0005g0218 a0001c0001t0009g0100 a0001c0001t0009g0101 a0001c0001t0009g0102 a0001c0001t0013g0138 a0001c0001t0013g0139 a0001c0001t0013g0140 a0001c0001t0013g0182 a0001c0001t0032g0201 a0001c0001t0033g0144 a0001c0001t0035g0202 a0001c0001t0036g0200 a0001c0001t0037g0099 a0002c0002t0004g0145 a0002c0002t0004g0146 a0002c0002t0004g0147	53	294	0.1803	10	c.196 others(25): Show c.196+637_196+638insGCATATATAT	BCKDHB	ENSG00000083123.15	transcript	ENST00000320393.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
BCKDHB_chr6_80101671_80351270	80107520	T T	TATATATG others(3): Show TATATATGCAC	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	294	0.0034	10	c.196 others(25): Show c.196+637_196+638insGCACATATAT	BCKDHB	ENSG00000083123.15	transcript	ENST00000320393.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
BCKDHB_chr6_80101671_80351270	80205791	G G	GGTGTGTG others(3): Show GGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19081.hp1 NA19003.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0053 a0001c0001t0001g0004 a0001c0001t0001g0053	2	294	0.0068	10	c.951 others(27): Show c.951+2614_951+2623dupGTGTGTGTGT	BCKDHB	ENSG00000083123.15	transcript	ENST00000320393.9	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
BCL11A_chr2_60452194_60558654	60507301	G G	GGGGAAGG others(3): Show GGGGAAGGGAA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0258 a0001c0001t0066g0258	1	262	0.0038	10	c.386 others(29): Show c.386-38469_386-38468insTTCCCTTCCC	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	2/3			chr2	TogoVar
BCL11A_chr2_60452194_60558654	60507316	G G	GGGGAAGG others(3): Show GGGGAAGGGAA	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02630.hp1 HG03041.hp1 others(1): Show HG02129.hp2 HG02630.hp1 HG03041.hp1 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0023 others(1): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0023 a0001c0001t0068	a0001c0001t0005g0227 a0001c0001t0007g0098 a0001c0001t0023g0203 others(1): Show a0001c0001t0005g0227 a0001c0001t0007g0098 a0001c0001t0023g0203 a0001c0001t0068g0260	4	262	0.0153	10	c.386 others(29): Show c.386-38493_386-38484dupTTCCCTTCCC	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	2/3			chr2	TogoVar
BCL11A_chr2_60452194_60558654	60521067	G G	GCACACAC others(3): Show GCACACACACA	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA21309.hp2 HG01884.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0029 a0001c0001t0004g0074 a0001c0001t0001g0029 a0001c0001t0004g0074	2	262	0.0076	10	c.385 others(29): Show c.385+24894_385+24903dupTGTGTGTGTG	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	2/3			chr2	TogoVar
BCL11A_chr2_60452194_60558654	60540946	T T	TTGTGTGT others(3): Show TTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03927.hp1 NA20805.hp1 HG03927.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0045 a0001c0001t0003g0152 a0001c0001t0001g0045 a0001c0001t0003g0152	2	262	0.0076	10	c.385 others(27): Show c.385+5015_385+5024dupCACACACACA	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	2/3			chr2	TogoVar
BCL11A_chr2_60452194_60558654	60553511	A A	AAAAAAAG others(3): Show AAAAAAAGAGG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00280.hp1 HG00738.hp1 HG01123.hp2 others(10): Show HG00280.hp1 HG00738.hp1 HG01123.hp2 HG01261.hp1 HG01934.hp1 HG02071.hp2 HG02723.hp2 HG02976.hp2 HG03669.hp1 HG04115.hp1 NA18971.hp2 NA18973.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0006 a0001c0001t0024 a0001c0001t0063 others(2): Show a0001c0001t0006 a0001c0001t0024 a0001c0001t0063 a0001c0002t0024 a0001c0005t0062	a0001c0001t0006g0236 a0001c0001t0006g0239 a0001c0001t0006g0240 others(10): Show a0001c0001t0006g0236 a0001c0001t0006g0239 a0001c0001t0006g0240 a0001c0001t0006g0241 a0001c0001t0006g0242 a0001c0001t0006g0243 a0001c0001t0006g0244 a0001c0001t0006g0245 a0001c0001t0006g0246 a0001c0001t0024g0237 a0001c0001t0063g0234 a0001c0002t0024g0238 a0001c0005t0062g0235	13	262	0.0496	10	c.-24 others(19): Show c.-242_-241insCCTCTTTTTT	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	1/4	242		chr2	TogoVar

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