Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
BCAT1_chr12_24805024_24954101	24844894	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0130 a0001c0001t0130	a0001c0001t0130g0317 a0001c0001t0130g0317	1	322	0.0031	12	c.675 others(29): Show c.675-2682_675-2671dupTTTTTTTTTTTT	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	6/10			chr12	TogoVar
BCAT1_chr12_24805024_24954101	24887061	T T	TAAAAATA others(5): Show TAAAAATAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0097 a0001c0001t0060g0097	1	322	0.0031	12	c.280 others(29): Show c.280-5651_280-5650insTTTTTTATTTTT	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	3/10			chr12	TogoVar
BCAT1_chr12_24805024_24954101	24887080	A A	AAAAAAAA others(5): Show AAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG04204.hp2 NA18972.hp2 NA19083.hp1 HG04204.hp2 NA18972.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0022 a0001c0001t0027 a0001c0001t0001 a0001c0001t0022 a0001c0001t0027	a0001c0001t0001g0138 a0001c0001t0022g0112 a0001c0001t0027g0196 a0001c0001t0001g0138 a0001c0001t0022g0112 a0001c0001t0027g0196	3	322	0.0093	12	c.280 others(29): Show c.280-5670_280-5669insATTTTTTTTTTT	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	3/10			chr12	TogoVar
BCAT1_chr12_24805024_24954101	24887080	A A	AAAAAAAA others(5): Show AAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01106.hp2 HG02723.hp1 others(5): Show HG00735.hp1 HG01106.hp2 HG02723.hp1 HG03041.hp1 NA18940.hp2 NA18964.hp2 NA19060.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0043 a0001c0001t0113 a0001c0001t0116	a0001c0001t0002g0004 a0001c0001t0003g0074 a0001c0001t0003g0134 others(5): Show a0001c0001t0002g0004 a0001c0001t0003g0074 a0001c0001t0003g0134 a0001c0001t0003g0277 a0001c0001t0007g0230 a0001c0001t0043g0257 a0001c0001t0113g0275 a0001c0001t0116g0114	8	322	0.0248	12	c.280 others(29): Show c.280-5670_280-5669insATATTTTTTTTT	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	3/10			chr12	TogoVar
BCAT1_chr12_24805024_24954101	24887080	A A	AAAAAAAA others(5): Show AAAAAAAATATAT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0065 a0001c0001t0065g0065	1	322	0.0031	12	c.280 others(29): Show c.280-5670_280-5669insATATATTTTTTT	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	3/10			chr12	TogoVar
BCAT1_chr12_24805024_24954101	24898520	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00621.hp2 HG00639.hp1 others(29): Show HG00544.hp2 HG00621.hp2 HG00639.hp1 HG01071.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01496.hp1 HG01975.hp1 HG02135.hp2 HG02257.hp1 HG02293.hp2 HG02300.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02886.hp1 HG03017.hp2 HG03130.hp1 HG03540.hp1 HG03942.hp1 HG04184.hp1 HG04199.hp1 HG06807.hp1 NA18970.hp2 NA18973.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0041 a0001c0001t0042 a0001c0001t0064 a0001c0001t0072 a0001c0001t0080 a0001c0001t0103 a0001c0001t0114 a0001c0001t0116 a0001c0001t0119 a0001c0001t0123	a0001c0001t0001g0210 a0001c0001t0001g0236 a0001c0001t0002g0131 others(29): Show a0001c0001t0001g0210 a0001c0001t0001g0236 a0001c0001t0002g0131 a0001c0001t0002g0198 a0001c0001t0006g0232 a0001c0001t0006g0283 a0001c0001t0007g0230 a0001c0001t0008g0078 a0001c0001t0009g0159 a0001c0001t0010g0300 a0001c0001t0010g0307 a0001c0001t0012g0061 a0001c0001t0014g0084 a0001c0001t0015g0027 a0001c0001t0015g0028 a0001c0001t0015g0033 a0001c0001t0016g0072 a0001c0001t0018g0140 a0001c0001t0024g0011 a0001c0001t0025g0282 a0001c0001t0027g0227 a0001c0001t0041g0008 a0001c0001t0042g0157 a0001c0001t0042g0274 a0001c0001t0064g0171 a0001c0001t0072g0075 a0001c0001t0080g0050 a0001c0001t0103g0049 a0001c0001t0114g0100 a0001c0001t0116g0114 a0001c0001t0119g0229 a0001c0001t0123g0051	32	322	0.0994	12	c.78+ others(27): Show c.78+3282_78+3293dupAAAAAAAAAAAA	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	2/10			chr12	TogoVar
BCAT1_chr12_24805024_24954101	24951590	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0091 a0001c0001t0091	a0001c0001t0091g0290 a0001c0001t0091g0290	1	322	0.0031	12	c.-26 others(23): Show c.-2659_-2658insTTTTTTTTTTTT	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding		2490		chr12	TogoVar
BCAT2_chr19_48790064_48816029	48811494	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01346.hp1 others(12): Show HG01070.hp2 HG01071.hp1 HG01346.hp1 HG02109.hp1 HG02145.hp1 HG02258.hp1 HG02809.hp1 HG02886.hp2 HG02896.hp2 HG02965.hp2 HG03139.hp1 NA18951.hp2 NA19043.hp1 NA19043.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0044 others(10): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0087 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0213 a0001c0001t0001g0228 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0004g0076	15	408	0.0368	12	c.-48 others(21): Show c.-488_-487insTTTTTTTTTTTT	BCAT2	ENSG00000105552.15	transcript	ENST00000316273.11	protein_coding		466		chr19	TogoVar
BCCIP_chr10_125818546_125841551	125826996	T T	TAAAAAAA others(5): Show TAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(241): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01175.hp1 HG01175.hp2 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp2 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp2 NA19002.hp1 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp2 NA19058.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19084.hp1 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0002c0002t0002	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0010 others(87): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0171 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0083 a0001c0001t0002g0122 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0003g0039 a0001c0001t0004g0002 a0002c0002t0002g0002	244	446	0.5471	12	c.240 others(27): Show c.240+340_240+341insAAAAAAAAAAAA	BCCIP	ENSG00000107949.17	transcript	ENST00000278100.11	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
BCDIN3D_chr12_49831043_49848106	49833895	G G	GTGTTAGG others(5): Show GTGTTAGGATTAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0023 a0010c0010t0023	a0010c0010t0023g0050 a0010c0010t0023g0050	1	420	0.0024	12	c.44 others(23): Show c.4475_*4476insGTAATCCTAACA	BCDIN3D	ENSG00000186666.6	transcript	ENST00000333924.6	protein_coding		2147		chr12	TogoVar
BCKDHA_chr19_41392818_41430002	41412380	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02630.hp2 HG02965.hp1 HG02109.hp1 HG02630.hp2 HG02965.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0257 a0001c0009t0001g0258 a0001c0009t0001g0259 a0001c0009t0001g0257 a0001c0009t0001g0258 a0001c0009t0001g0259	3	374	0.0080	12	c.375 others(29): Show c.375+1378_375+1389dupTTTTTTTTTTTT	BCKDHA	ENSG00000248098.12	transcript	ENST00000269980.7	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
BCKDHA_chr19_41392818_41430002	41425549	A A	AGGCCAGG others(5): Show AGGCCAGGGCCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	374	0.0027	12	c.94 others(21): Show c.941_*942insGGCCAGGGCCAG	BCKDHA	ENSG00000248098.12	transcript	ENST00000269980.7	protein_coding		548		chr19	TogoVar
BCKDHA_chr19_41392818_41430002	41425549	A A	AGGCCAGG others(5): Show AGGCCAGGGCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0102 a0001c0002t0001g0102	1	374	0.0027	12	c.94 others(21): Show c.941_*942insGGCCAGGGCCCG	BCKDHA	ENSG00000248098.12	transcript	ENST00000269980.7	protein_coding		548		chr19	TogoVar
BCKDHA_chr19_41392818_41430002	41425549	A A	AGGCCAGG others(5): Show AGGCCAGGGCCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(235): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00642.hp2 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02145.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18971.hp2 NA18972.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18982.hp2 NA18984.hp2 NA18985.hp1 NA18988.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18991.hp1 NA18993.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19006.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19056.hp2 NA19057.hp1 NA19060.hp1 NA19062.hp2 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19082.hp2 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19090.hp1 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0004 others(11): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0012 a0001c0015 a0001c0017 a0002c0003 a0002c0010 a0003c0005 a0004c0011	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(14): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0004t0001 a0001c0004t0002 a0001c0006t0001 a0001c0006t0002 a0001c0007t0001 a0001c0008t0001 a0001c0009t0001 a0001c0012t0001 a0001c0015t0001 a0001c0017t0001 a0002c0003t0001 a0002c0010t0001 a0003c0005t0001 a0004c0011t0001	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(183): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0002t0001g0004 a0001c0002t0001g0070 a0001c0002t0001g0079 a0001c0004t0001g0008 a0001c0004t0001g0103 a0001c0004t0001g0106 a0001c0004t0002g0105 a0001c0006t0001g0114 a0001c0006t0001g0115 a0001c0006t0001g0137 a0001c0006t0002g0013 a0001c0006t0002g0113 a0001c0007t0001g0037 a0001c0007t0001g0121 a0001c0007t0001g0236 a0001c0007t0001g0237 a0001c0007t0001g0238 a0001c0007t0001g0240 a0001c0008t0001g0038 a0001c0008t0001g0261 a0001c0008t0001g0262 a0001c0008t0001g0263 a0001c0008t0001g0264 a0001c0009t0001g0257 a0001c0009t0001g0258 a0001c0009t0001g0259 a0001c0012t0001g0249 a0001c0015t0001g0260 a0001c0017t0001g0104 a0002c0003t0001g0017 a0002c0003t0001g0032 a0002c0003t0001g0184 a0002c0003t0001g0186 a0002c0003t0001g0187 a0002c0003t0001g0224 a0002c0003t0001g0251 a0002c0003t0001g0252 a0002c0010t0001g0185 a0003c0005t0001g0035 a0003c0005t0001g0036 a0003c0005t0001g0220 a0003c0005t0001g0222 a0003c0005t0001g0243 a0004c0011t0001g0159	238	374	0.6364	12	c.94 others(21): Show c.941_*942insGGCCAGGGCCGG	BCKDHA	ENSG00000248098.12	transcript	ENST00000269980.7	protein_coding		548		chr19	TogoVar
BCKDHA_chr19_41392818_41430002	41425551	G G	GCCAGGGC others(5): Show GCCAGGGCCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	374	0.0027	12	c.94 others(21): Show c.943_*944insCCAGGGCCGGGA	BCKDHA	ENSG00000248098.12	transcript	ENST00000269980.7	protein_coding		550		chr19	TogoVar
BCKDHA_chr19_41392818_41430002	41427477	A A	AGGAGAGA others(5): Show AGGAGAGAGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 NA19030.hp2 HG02818.hp2 NA19030.hp2	a0001 a0001	a0001c0008 a0001c0015 a0001c0008 a0001c0015	a0001c0008t0001 a0001c0015t0001 a0001c0008t0001 a0001c0015t0001	a0001c0008t0001g0261 a0001c0015t0001g0260 a0001c0008t0001g0261 a0001c0015t0001g0260	2	374	0.0054	12	c.28 others(23): Show c.2869_*2870insGGAGAGAGGGAG	BCKDHA	ENSG00000248098.12	transcript	ENST00000269980.7	protein_coding		2476		chr19	TogoVar
BCKDHB_chr6_80101671_80351270	80101783	A A	AAAATAAA others(5): Show AAAATAAATAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG01069.hp2 HG01071.hp1 others(6): Show HG00408.hp2 HG01069.hp2 HG01071.hp1 HG01891.hp1 HG02056.hp2 HG02976.hp1 NA18522.hp1 NA18971.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0012 a0001c0001t0013	a0001c0001t0002g0280 a0001c0001t0004g0142 a0001c0001t0005g0193 others(6): Show a0001c0001t0002g0280 a0001c0001t0004g0142 a0001c0001t0005g0193 a0001c0001t0005g0197 a0001c0001t0007g0224 a0001c0001t0007g0225 a0001c0001t0007g0279 a0001c0001t0012g0278 a0001c0001t0013g0182	9	294	0.0306	12	c.-49 others(23): Show c.-4911_-4910insAAATAAATAAAT	BCKDHB	ENSG00000083123.15	transcript	ENST00000320393.9	protein_coding		4887		chr6	TogoVar
BCKDHB_chr6_80101671_80351270	80101819	T T	TAAATAAA others(5): Show TAAATAAATAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0210 a0001c0001t0038g0210	1	294	0.0034	12	c.-48 others(23): Show c.-4875_-4874insAAATAAATAAAC	BCKDHB	ENSG00000083123.15	transcript	ENST00000320393.9	protein_coding		4851		chr6	TogoVar
BCKDHB_chr6_80101671_80351270	80107516	T T	TATATATA others(5): Show TATATATATATGC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01074.hp2 HG01081.hp1 others(31): Show HG00673.hp1 HG01074.hp2 HG01081.hp1 HG01346.hp2 HG01515.hp2 HG01891.hp2 HG02071.hp1 HG02258.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02698.hp2 HG02717.hp1 HG02970.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03486.hp1 HG03516.hp1 HG03579.hp2 HG03704.hp1 HG06807.hp1 NA18906.hp1 NA19000.hp2 NA19005.hp2 NA19030.hp1 NA19043.hp2 NA19240.hp1 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0015 a0001c0001t0017 a0001c0001t0019 a0001c0001t0023 a0001c0001t0025 a0001c0001t0030 a0001c0001t0038 a0001c0005t0017	a0001c0001t0001g0159 a0001c0001t0001g0163 a0001c0001t0001g0164 others(31): Show a0001c0001t0001g0159 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0002g0097 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0165 a0001c0001t0003g0108 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0149 a0001c0001t0003g0168 a0001c0001t0008g0157 a0001c0001t0008g0158 a0001c0001t0008g0160 a0001c0001t0008g0161 a0001c0001t0008g0162 a0001c0001t0008g0169 a0001c0001t0008g0170 a0001c0001t0009g0096 a0001c0001t0009g0098 a0001c0001t0010g0137 a0001c0001t0015g0150 a0001c0001t0017g0156 a0001c0001t0019g0107 a0001c0001t0023g0109 a0001c0001t0025g0089 a0001c0001t0030g0155 a0001c0001t0038g0210 a0001c0005t0017g0166	34	294	0.1157	12	c.196 others(27): Show c.196+637_196+638insGCATATATATAT	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(5): Show TATATATATGCAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00423.hp2 others(81): Show HG00280.hp1 HG00408.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00609.hp2 HG00673.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01081.hp2 HG01106.hp2 HG01169.hp1 HG01175.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01975.hp1 HG01993.hp2 HG02055.hp2 HG02056.hp1 HG02083.hp1 HG02129.hp2 HG02135.hp2 HG02300.hp1 HG02523.hp1 HG02698.hp1 HG02738.hp1 HG02818.hp2 HG02895.hp1 HG02970.hp1 HG03017.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04204.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp1 NA18941.hp2 NA18945.hp1 NA18946.hp2 NA18950.hp1 NA18953.hp1 NA18957.hp2 NA18960.hp1 NA18962.hp1 NA18963.hp1 NA18965.hp2 NA18967.hp1 NA18968.hp2 NA18973.hp1 NA18974.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18982.hp2 NA18998.hp2 NA19000.hp1 NA19003.hp2 NA19005.hp1 NA19009.hp2 NA19030.hp2 NA19056.hp2 NA19057.hp1 NA19060.hp1 NA19062.hp1 NA19064.hp2 NA19068.hp1 NA19077.hp1 NA19081.hp1 NA19082.hp2 NA19084.hp2 NA19088.hp1 NA19090.hp2 NA20300.hp1 NA20805.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0016 a0001c0001t0020 a0001c0001t0028 a0003c0004t0010	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(81): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0002g0023 a0001c0001t0002g0029 a0001c0001t0002g0040 a0001c0001t0002g0076 a0001c0001t0005g0042 a0001c0001t0005g0045 a0001c0001t0007g0077 a0001c0001t0009g0081 a0001c0001t0010g0080 a0001c0001t0010g0087 a0001c0001t0010g0088 a0001c0001t0016g0019 a0001c0001t0016g0065 a0001c0001t0020g0059 a0001c0001t0028g0055 a0003c0004t0010g0062	84	294	0.2857	12	c.196 others(27): Show c.196+637_196+638insGCACATATATAT	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(5): Show TATATATATGCGC	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA19080.hp1 NA18940.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0086 a0001c0001t0006g0085 a0001c0001t0001g0086 a0001c0001t0006g0085	2	294	0.0068	12	c.196 others(27): Show c.196+637_196+638insGCGCATATATAT	BCKDHB	ENSG00000083123.15	transcript	ENST00000320393.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
BCKDHB_chr6_80101671_80351270	80134743	T T	TTTTATTT others(5): Show TTTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02258.hp2 HG02630.hp2 others(5): Show HG01109.hp2 HG02258.hp2 HG02630.hp2 HG02922.hp1 HG03453.hp1 NA19062.hp2 NA19240.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0001c0001t0005 a0001c0001t0034 others(1): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0034 a0002c0002t0004	a0001c0001t0004g0178 a0001c0001t0005g0206 a0001c0001t0005g0207 others(5): Show a0001c0001t0004g0178 a0001c0001t0005g0206 a0001c0001t0005g0207 a0001c0001t0005g0209 a0001c0001t0034g0208 a0002c0002t0004g0145 a0002c0002t0004g0146 a0002c0002t0004g0147	8	294	0.0272	12	c.343 others(29): Show c.343+5530_343+5541dupATTTATTTATTT	BCKDHB	ENSG00000083123.15	transcript	ENST00000320393.9	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
BCKDHB_chr6_80101671_80351270	80168791	A A	AAGGAAGG others(5): Show AAGGAAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0022 a0001c0003t0022	a0001c0003t0022g0106 a0001c0003t0022g0106	1	294	0.0034	12	c.478 others(25): Show c.478-81_478-80insAAGGGAGGGAGG	BCKDHB	ENSG00000083123.15	transcript	ENST00000320393.9	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
BCKDHB_chr6_80101671_80351270	80168791	A A	AAGGGAGG others(5): Show AAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03225.hp2 HG03130.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0015 a0001c0001t0003 a0001c0001t0015	a0001c0001t0003g0214 a0001c0001t0015g0215 a0001c0001t0003g0214 a0001c0001t0015g0215	2	294	0.0068	12	c.478 others(25): Show c.478-80_478-69dupGAGGGAGGGAGG	BCKDHB	ENSG00000083123.15	transcript	ENST00000320393.9	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
BCKDHB_chr6_80101671_80351270	80197934	T T	TCATCCAT others(5): Show TCATCCATCCATC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02886.hp1 NA18942.hp2 HG02717.hp2 HG02886.hp1 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0187 a0001c0001t0004g0211 a0001c0001t0004g0212 a0001c0001t0004g0187 a0001c0001t0004g0211 a0001c0001t0004g0212	3	294	0.0102	12	c.743 others(29): Show c.743-2966_743-2955dupATCCATCCATCC	BCKDHB	ENSG00000083123.15	transcript	ENST00000320393.9	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
BCKDHB_chr6_80101671_80351270	80205791	G G	GGTGTGTG others(5): Show GGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02630.hp1 HG03139.hp2 others(1): Show HG02622.hp2 HG02630.hp1 HG03139.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0019 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0019 a0001c0001t0023	a0001c0001t0001g0072 a0001c0001t0003g0110 a0001c0001t0019g0107 others(1): Show a0001c0001t0001g0072 a0001c0001t0003g0110 a0001c0001t0019g0107 a0001c0001t0023g0109	4	294	0.0136	12	c.951 others(29): Show c.951+2612_951+2623dupGTGTGTGTGTGT	BCKDHB	ENSG00000083123.15	transcript	ENST00000320393.9	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
BCKDHB_chr6_80101671_80351270	80342556	G G	GAAAAAAA others(5): Show GAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0081 a0001c0001t0009g0081	1	294	0.0034	12	c.103 others(31): Show c.1039-1096_1039-1085dupAAAAAAAAAAAA	BCKDHB	ENSG00000083123.15	transcript	ENST00000320393.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
BCKDHB_chr6_80101671_80351270	80345763	G G	GTGGCCAC others(5): Show GTGGCCACGTGCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0113 a0001c0001t0024g0113	1	294	0.0034	12	c.19 others(23): Show c.1961_*1972dupGGCCACGTGCCT	BCKDHB	ENSG00000083123.15	transcript	ENST00000320393.9	protein_coding	10/10	1973	INFO_REALIGN_3_PRIME	chr6	TogoVar
BCKDK_chr16_31103386_31117791	31103564	A A	ACTCTCCC others(5): Show ACTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(12): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00741.hp2 HG01099.hp2 HG01106.hp2 HG01123.hp2 HG01168.hp2 HG01346.hp1 HG01884.hp2 HG02300.hp1 HG02738.hp2 HG06807.hp1 NA18522.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0004g0001 a0001c0001t0001g0001 a0001c0001t0004g0001	15	300	0.0500	12	c.-50 others(23): Show c.-5093_-5092insCTCTCCCTCTCC	BCKDK	ENSG00000103507.14	transcript	ENST00000219794.11	protein_coding		4821		chr16	TogoVar
BCKDK_chr16_31103386_31117791	31103577	C C	CTCTCCGT others(5): Show CTCTCCGTCTCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 NA19030.hp1 HG03579.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0001 a0001c0002t0001g0006 a0001c0001t0001g0001 a0001c0002t0001g0006	2	300	0.0067	12	c.-50 others(23): Show c.-5080_-5079insTCTCCGTCTCCG	BCKDK	ENSG00000103507.14	transcript	ENST00000219794.11	protein_coding		4808		chr16	TogoVar
BCKDK_chr16_31103386_31117791	31103583	C C	CTCTCCGT others(5): Show CTCTCCGTCTCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp2 HG00639.hp2 others(24): Show HG00597.hp1 HG00597.hp2 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01496.hp1 HG01515.hp2 HG01517.hp1 HG02074.hp2 HG02080.hp2 HG02135.hp2 NA18952.hp1 NA18960.hp1 NA18963.hp1 NA18963.hp2 NA18970.hp1 NA18972.hp2 NA18981.hp2 NA18984.hp1 NA18984.hp2 NA18995.hp1 NA19057.hp1 NA19087.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0008 others(1): Show a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0008 a0001c0002t0001g0011	27	300	0.0900	12	c.-50 others(23): Show c.-5074_-5073insTCTCCGTCTCCG	BCKDK	ENSG00000103507.14	transcript	ENST00000219794.11	protein_coding		4802		chr16	TogoVar
BCKDK_chr16_31103386_31117791	31103595	C C	CTCTCCGT others(5): Show CTCTCCGTCTCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02922.hp2 HG02280.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0002 a0001c0001t0001g0007	2	300	0.0067	12	c.-50 others(23): Show c.-5062_-5061insTCTCCGTCTCCG	BCKDK	ENSG00000103507.14	transcript	ENST00000219794.11	protein_coding		4790		chr16	TogoVar
BCKDK_chr16_31103386_31117791	31117369	A A	AAAATAAA others(5): Show AAAATAAATAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00642.hp2 HG00741.hp2 others(18): Show HG00323.hp1 HG00642.hp2 HG00741.hp2 HG01099.hp2 HG01106.hp2 HG01168.hp2 HG01515.hp1 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG02602.hp2 HG02735.hp2 HG02895.hp1 HG02965.hp1 HG03516.hp2 HG03579.hp1 HG03710.hp2 HG04204.hp1 NA19240.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0004 a0002c0003t0001 a0001c0001t0001 a0001c0001t0004 a0002c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0004g0001 a0002c0003t0001g0002	21	300	0.0700	12	c.51 others(23): Show c.5104_*5105insAAATAAATAAAT	BCKDK	ENSG00000103507.14	transcript	ENST00000219794.11	protein_coding		4579		chr16	TogoVar
BCKDK_chr16_31103386_31117791	31117398	A A	AAATAAAT others(5): Show AAATAAATAAATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG01123.hp2 HG02300.hp1 others(2): Show HG00099.hp1 HG01123.hp2 HG02300.hp1 HG02738.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	5	300	0.0167	12	c.51 others(23): Show c.5133_*5134insAATAAATAAATT	BCKDK	ENSG00000103507.14	transcript	ENST00000219794.11	protein_coding		4608		chr16	TogoVar
BCL11A_chr2_60452194_60558654	60467138	T T	TTGGTGGT others(5): Show TTGGTGGTGGTGG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0068 a0001c0001t0037g0068	1	262	0.0038	12	c.487 others(29): Show c.487+1593_487+1594insCCACCACCACCA	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BCL11A_chr2_60452194_60558654	60467149	G G	GATGGTGG others(5): Show GATGGTGGTGGTA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0079 a0001c0003t0004g0079	1	262	0.0038	12	c.487 others(29): Show c.487+1582_487+1583insTACCACCACCAT	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BCL11A_chr2_60452194_60558654	60467294	G G	GTGATGAT others(5): Show GTGATGATGGTGA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0234 a0001c0001t0063g0234	1	262	0.0038	12	c.487 others(29): Show c.487+1437_487+1438insTCACCATCATCA	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BCL11A_chr2_60452194_60558654	60467399	G G	GTACTGGT others(5): Show GTACTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01934.hp1 HG02004.hp1 others(5): Show HG01261.hp1 HG01934.hp1 HG02004.hp1 HG02080.hp1 HG03239.hp1 HG03579.hp2 HG03669.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0014 a0001c0001t0046	a0001c0001t0002g0090 a0001c0001t0003g0171 a0001c0001t0004g0067 others(5): Show a0001c0001t0002g0090 a0001c0001t0003g0171 a0001c0001t0004g0067 a0001c0001t0004g0088 a0001c0001t0006g0241 a0001c0001t0006g0245 a0001c0001t0014g0009 a0001c0001t0046g0186	8	262	0.0305	12	c.487 others(29): Show c.487+1332_487+1333insTCACCACCAGTA	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BCL11A_chr2_60452194_60558654	60467449	A A	ACTGCTGG others(5): Show ACTGCTGGTGATG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0022 a0001c0001t0033g0022	1	262	0.0038	12	c.487 others(29): Show c.487+1282_487+1283insCATCACCAGCAG	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BCL11A_chr2_60452194_60558654	60467490	T T	TGATGGTG others(5): Show TGATGGTGGTGGA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01361.hp1 HG03139.hp2 HG00738.hp2 HG01361.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0004 a0001c0001t0013 a0001c0008t0002 a0001c0001t0004 a0001c0001t0013 a0001c0008t0002	a0001c0001t0004g0078 a0001c0001t0013g0253 a0001c0008t0002g0096 a0001c0001t0004g0078 a0001c0001t0013g0253 a0001c0008t0002g0096	3	262	0.0115	12	c.487 others(29): Show c.487+1241_487+1242insTCCACCACCATC	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BCL11A_chr2_60452194_60558654	60467495	G G	GTGGTGGT others(5): Show GTGGTGGTAGTGA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0047 a0001c0001t0020g0047	1	262	0.0038	12	c.487 others(29): Show c.487+1236_487+1237insTCACTACCACCA	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BCL11A_chr2_60452194_60558654	60467597	G G	GTACTGGT others(5): Show GTACTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02300.hp2 NA18994.hp1 HG00423.hp1 HG02300.hp2 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0020 a0001c0001t0003 a0001c0001t0012 a0001c0001t0020	a0001c0001t0003g0153 a0001c0001t0012g0215 a0001c0001t0020g0047 a0001c0001t0003g0153 a0001c0001t0012g0215 a0001c0001t0020g0047	3	262	0.0115	12	c.487 others(29): Show c.487+1134_487+1135insTCACCACCAGTA	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BCL11A_chr2_60452194_60558654	60467824	G G	GGTGGTGG others(5): Show GGTGGTGGTGGTA	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA19065.hp2 HG02129.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0173 a0001c0001t0003g0177 a0001c0001t0003g0173 a0001c0001t0003g0177	2	262	0.0076	12	c.487 others(27): Show c.487+907_487+908insTACCACCACCAC	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BCL11A_chr2_60452194_60558654	60477600	T T	TAAAGAAA others(5): Show TAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00642.hp2 HG00733.hp2 others(25): Show HG00597.hp1 HG00642.hp2 HG00733.hp2 HG01074.hp1 HG01257.hp2 HG01258.hp1 HG01496.hp1 HG01934.hp1 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02145.hp1 HG03669.hp2 HG03831.hp2 HG04115.hp2 HG04199.hp1 HG06807.hp1 NA18969.hp1 NA18969.hp2 NA18983.hp1 NA18988.hp1 NA18988.hp2 NA18992.hp2 NA19068.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0018 a0001c0001t0022 a0001c0001t0038 a0001c0001t0042 a0001c0002t0002 a0002c0004t0001	a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0054 others(24): Show a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0002g0001 a0001c0001t0002g0124 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0177 a0001c0001t0004g0088 a0001c0001t0004g0089 a0001c0001t0005g0224 a0001c0001t0006g0245 a0001c0001t0008g0132 a0001c0001t0009g0201 a0001c0001t0012g0218 a0001c0001t0018g0207 a0001c0001t0022g0179 a0001c0001t0022g0180 a0001c0001t0038g0069 a0001c0001t0042g0138 a0001c0002t0002g0120 a0002c0004t0001g0021	28	262	0.1069	12	c.386 others(29): Show c.386-8768_386-8767insCTTTCTTTCTTT	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	2/3			chr2	TogoVar
BCL11A_chr2_60452194_60558654	60519539	T T	TTGCCTGC others(5): Show TTGCCTGCCTGCC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01943.hp1 HG01952.hp2 others(2): Show HG00280.hp2 HG01943.hp1 HG01952.hp2 HG01978.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0001t0025 a0001c0001t0036 others(1): Show a0001c0001t0004 a0001c0001t0025 a0001c0001t0036 a0001c0003t0002	a0001c0001t0004g0084 a0001c0001t0004g0087 a0001c0001t0025g0003 others(2): Show a0001c0001t0004g0084 a0001c0001t0004g0087 a0001c0001t0025g0003 a0001c0001t0036g0083 a0001c0003t0002g0143	5	262	0.0191	12	c.385 others(31): Show c.385+26420_385+26431dupGGCAGGCAGGCA	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	2/3			chr2	TogoVar
BCL11A_chr2_60452194_60558654	60540946	T T	TTGTGTGT others(5): Show TTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01978.hp2 NA19006.hp1 HG00735.hp1 HG01978.hp2 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0009 a0001c0001t0020 a0001c0003t0002 a0001c0001t0009 a0001c0001t0020 a0001c0003t0002	a0001c0001t0009g0195 a0001c0001t0020g0041 a0001c0003t0002g0107 a0001c0001t0009g0195 a0001c0001t0020g0041 a0001c0003t0002g0107	3	262	0.0115	12	c.385 others(29): Show c.385+5013_385+5024dupCACACACACACA	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	2/3			chr2	TogoVar
BCL11A_chr2_60452194_60558654	60553511	A A	AAAAAAAA others(5): Show AAAAAAAAAGAGG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01361.hp2 HG01975.hp2 HG03098.hp1 others(1): Show HG01361.hp2 HG01975.hp2 HG03098.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0016 a0001c0002t0016 a0001c0001t0016 a0001c0002t0016	a0001c0001t0016g0254 a0001c0001t0016g0256 a0001c0001t0016g0257 others(1): Show a0001c0001t0016g0254 a0001c0001t0016g0256 a0001c0001t0016g0257 a0001c0002t0016g0255	4	262	0.0153	12	c.-24 others(21): Show c.-242_-241insCCTCTTTTTTTT	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	1/4	242		chr2	TogoVar
BCL11B_chr14_99164287_99277197	99188537	C C	CCTGGGGC others(5): Show CCTGGGGCTGGGG	intron_variant intron_variant	MODIFIER	HG02451.hp2 NA19010.hp2 HG02451.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0180 a0001c0002t0003g0194 a0001c0001t0001g0180 a0001c0002t0003g0194	2	350	0.0057	12	c.641 others(31): Show c.641-12354_641-12343dupCCCCAGCCCCAG	BCL11B	ENSG00000127152.18	transcript	ENST00000357195.8	protein_coding	3/3			chr14	TogoVar
BCL11B_chr14_99164287_99277197	99199681	T T	TGCGCGCG others(5): Show TGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0333 a0001c0002t0010g0333	1	350	0.0029	12	c.641 others(31): Show c.641-23487_641-23486insGCGCGCGCGCGC	BCL11B	ENSG00000127152.18	transcript	ENST00000357195.8	protein_coding	3/3			chr14	TogoVar
BCL11B_chr14_99164287_99277197	99199683	T T	TGTGTGTG others(5): Show TGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0248 a0001c0001t0003g0248	1	350	0.0029	12	c.641 others(31): Show c.641-23489_641-23488insGCGCACACACAC	BCL11B	ENSG00000127152.18	transcript	ENST00000357195.8	protein_coding	3/3			chr14	TogoVar

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