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
B3GAT2_chr6_70851679_70962060	70902617	G G	GATATATA others(9): Show GATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA19010.hp1 NA18965.hp1 NA19010.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0093 a0001c0002t0011 a0001c0002t0093	a0001c0002t0011g0269 a0001c0002t0093g0267 a0001c0002t0011g0269 a0001c0002t0093g0267	2	108	0.0185	16	c.592 others(33): Show c.592-8361_592-8346dupATATATATATATATAT	B3GAT2	ENSG00000112309.11	transcript	ENST00000230053.11	protein_coding	1/3			chr6	TogoVar
B3GLCT_chr13_31194975_31337276	31213616	A A	ACCCCCCC others(9): Show ACCCCCCCCCCCCCCAC	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0135 a0002c0002t0002g0135	1	234	0.0043	16	c.71- others(31): Show c.71-1431_71-1430insCCCCCCCCCCACCCCC	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31253595	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0174 a0002c0002t0012g0174	1	137	0.0073	16	c.459 others(33): Show c.459+5640_459+5655dupAAAAAAAAAAAAAAAA	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31316407	T T	TTATATAT others(9): Show TTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00673.hp2 HG01496.hp1 others(18): Show HG00558.hp2 HG00673.hp2 HG01496.hp1 HG01952.hp2 HG01993.hp1 HG02027.hp2 HG02129.hp2 HG02165.hp2 HG03540.hp2 HG04228.hp1 NA18747.hp1 NA18979.hp2 NA18983.hp1 NA18993.hp2 NA18998.hp2 NA19043.hp1 NA19056.hp2 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19072.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 a0001c0001t0024 a0002c0003t0003	a0001c0001t0001g0002 a0001c0001t0001g0057 a0001c0001t0001g0082 others(17): Show a0001c0001t0001g0002 a0001c0001t0001g0057 a0001c0001t0001g0082 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0172 a0001c0001t0001g0187 a0001c0001t0001g0194 a0001c0001t0001g0223 a0001c0001t0005g0201 a0001c0001t0005g0202 a0001c0001t0010g0005 a0001c0001t0010g0111 a0001c0001t0024g0120 a0002c0003t0003g0226	21	78	0.2692	16	c.106 others(35): Show c.1065-1150_1065-1135dupTATATATATATATATA	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31316407	T T	TTTTATAT others(9): Show TTTTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02886.hp2 HG03927.hp1 others(2): Show HG02698.hp2 HG02886.hp2 HG03927.hp1 HG04204.hp1 NA19086.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0066 a0002c0002t0002g0135 a0002c0002t0002g0139 others(2): Show a0002c0002t0002g0066 a0002c0002t0002g0135 a0002c0002t0002g0139 a0002c0002t0002g0211 a0002c0002t0002g0232	5	62	0.0806	16	c.106 others(35): Show c.1065-1158_1065-1157insTTATATATATATATAT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31319390	A A	ATAAACTA others(9): Show ATAAACTACCAGCCTCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(144): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01516.hp2 HG01891.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01981.hp2 HG01993.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02280.hp2 HG02300.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02647.hp1 HG02698.hp1 HG02735.hp2 HG02896.hp2 HG02897.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03225.hp2 HG03239.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18942.hp1 NA18944.hp1 NA18945.hp2 NA18947.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18963.hp2 NA18964.hp1 NA18968.hp2 NA18970.hp2 NA18975.hp2 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18990.hp1 NA18993.hp1 NA18993.hp2 NA18998.hp2 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19079.hp2 NA19081.hp2 NA19082.hp1 NA19086.hp1 NA19087.hp1 NA19091.hp2 NA20129.hp2 NA20752.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0007	a0001c0001 a0001c0013 a0003c0005 others(2): Show a0001c0001 a0001c0013 a0003c0005 a0004c0004 a0007c0012	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(12): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0013t0001 a0003c0005t0001 a0004c0004t0004 a0007c0012t0004	a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0024 others(141): Show a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0166 a0001c0001t0001g0172 a0001c0001t0001g0176 a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0214 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0235 a0001c0001t0001g0240 a0001c0001t0001g0254 a0001c0001t0004g0001 a0001c0001t0004g0033 a0001c0001t0004g0039 a0001c0001t0004g0040 a0001c0001t0004g0041 a0001c0001t0004g0042 a0001c0001t0004g0043 a0001c0001t0004g0046 a0001c0001t0004g0049 a0001c0001t0004g0052 a0001c0001t0004g0060 a0001c0001t0004g0063 a0001c0001t0004g0159 a0001c0001t0004g0161 a0001c0001t0004g0162 a0001c0001t0004g0163 a0001c0001t0004g0171 a0001c0001t0004g0183 a0001c0001t0004g0212 a0001c0001t0004g0215 a0001c0001t0005g0003 a0001c0001t0005g0047 a0001c0001t0005g0068 a0001c0001t0005g0100 a0001c0001t0005g0101 a0001c0001t0005g0196 a0001c0001t0005g0197 a0001c0001t0005g0198 a0001c0001t0005g0199 a0001c0001t0005g0200 a0001c0001t0005g0201 a0001c0001t0005g0202 a0001c0001t0005g0204 a0001c0001t0005g0205 a0001c0001t0005g0252 a0001c0001t0006g0037 a0001c0001t0006g0044 a0001c0001t0006g0050 a0001c0001t0006g0053 a0001c0001t0006g0054 a0001c0001t0006g0055 a0001c0001t0006g0058 a0001c0001t0006g0059 a0001c0001t0006g0147 a0001c0001t0006g0156 a0001c0001t0006g0167 a0001c0001t0006g0195 a0001c0001t0007g0017 a0001c0001t0007g0019 a0001c0001t0007g0020 a0001c0001t0007g0022 a0001c0001t0007g0023 a0001c0001t0007g0029 a0001c0001t0007g0030 a0001c0001t0007g0114 a0001c0001t0007g0149 a0001c0001t0010g0005 a0001c0001t0010g0111 a0001c0001t0010g0113 a0001c0001t0010g0116 a0001c0001t0014g0038 a0001c0001t0014g0184 a0001c0001t0015g0103 a0001c0001t0015g0247 a0001c0001t0022g0056 a0001c0001t0024g0120 a0001c0001t0025g0258 a0001c0013t0001g0259 a0003c0005t0001g0074 a0003c0005t0001g0075 a0003c0005t0001g0076 a0004c0004t0004g0203 a0004c0004t0004g0206 a0004c0004t0004g0207 a0007c0012t0004g0061	147	266	0.5526	16	c.118 others(35): Show c.1184+1711_1184+1712insACCAGCCTCCTAAACT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr13	TogoVar
B3GNT3_chr19_17790138_17818576	17792577	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	313	0.0032	16	c.-26 others(27): Show c.-2680_-2679insAAAAAAAAAAAAAAAA	B3GNT3	ENSG00000179913.11	transcript	ENST00000318683.7	protein_coding		2560		chr19	TogoVar
B3GNT3_chr19_17790138_17818576	17807111	A A	AGTGTGTG others(9): Show AGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp1 HG00642.hp2 others(51): Show HG00280.hp1 HG00639.hp1 HG00642.hp2 HG00735.hp2 HG00741.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01258.hp1 HG01261.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01934.hp1 HG01934.hp2 HG02015.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02148.hp2 HG02155.hp1 HG02280.hp1 HG02622.hp1 HG02647.hp1 HG02735.hp1 HG02738.hp2 HG02818.hp2 HG02896.hp1 HG02897.hp1 HG03195.hp2 HG03834.hp2 NA18522.hp2 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18948.hp2 NA18952.hp2 NA18971.hp2 NA18975.hp2 NA18980.hp1 NA18983.hp2 NA18992.hp1 NA18994.hp1 NA18999.hp2 NA19007.hp1 NA19010.hp2 NA19240.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0003 a0001c0009 others(1): Show a0001c0001 a0001c0003 a0001c0009 a0007c0012	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(10): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0017 a0001c0003t0001 a0001c0003t0004 a0001c0003t0008 a0001c0009t0003 a0007c0012t0005	a0001c0001t0002g0138 a0001c0001t0002g0156 a0001c0001t0002g0210 others(41): Show a0001c0001t0002g0138 a0001c0001t0002g0156 a0001c0001t0002g0210 a0001c0001t0002g0275 a0001c0001t0003g0031 a0001c0001t0003g0040 a0001c0001t0003g0057 a0001c0001t0003g0096 a0001c0001t0003g0141 a0001c0001t0003g0169 a0001c0001t0003g0241 a0001c0001t0005g0043 a0001c0001t0005g0233 a0001c0001t0005g0238 a0001c0001t0005g0247 a0001c0001t0005g0248 a0001c0001t0005g0256 a0001c0001t0005g0279 a0001c0001t0006g0007 a0001c0001t0006g0054 a0001c0001t0006g0075 a0001c0001t0006g0157 a0001c0001t0006g0160 a0001c0001t0006g0163 a0001c0001t0006g0164 a0001c0001t0009g0034 a0001c0001t0009g0035 a0001c0001t0009g0179 a0001c0001t0009g0183 a0001c0001t0009g0269 a0001c0001t0010g0219 a0001c0001t0010g0222 a0001c0001t0013g0150 a0001c0001t0017g0165 a0001c0003t0001g0108 a0001c0003t0004g0027 a0001c0003t0004g0029 a0001c0003t0004g0109 a0001c0003t0004g0122 a0001c0003t0008g0027 a0001c0003t0008g0103 a0001c0003t0008g0114 a0001c0009t0003g0082 a0007c0012t0005g0250	54	143	0.3776	16	c.-50 others(31): Show c.-50-628_-50-613dupGTGTGTGTGTGTGTGT	B3GNT3	ENSG00000179913.11	transcript	ENST00000318683.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr19	TogoVar
B3GNT5_chr3_183248253_183278385	183256835	A A	ACCATGTT others(9): Show ACCATGTTCTTTCCTGT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01069.hp1 HG01071.hp1 others(78): Show HG00735.hp1 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01257.hp2 HG01261.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02818.hp2 HG02895.hp2 HG02897.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG04115.hp1 HG04204.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18943.hp1 NA18952.hp1 NA18975.hp1 NA18984.hp2 NA18995.hp2 NA19000.hp2 NA19083.hp2 NA19085.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0019	a0001c0001t0001g0013 a0001c0001t0001g0022 a0001c0001t0001g0023 others(64): Show a0001c0001t0001g0013 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0002g0194 a0001c0001t0002g0198 a0001c0001t0002g0226 a0001c0001t0003g0173 a0001c0001t0003g0217 a0001c0001t0005g0014 a0001c0001t0005g0046 a0001c0001t0005g0054 a0001c0001t0005g0214 a0001c0001t0008g0022 a0001c0001t0008g0175 a0001c0001t0019g0170	81	388	0.2088	16	c.-30 others(35): Show c.-302+3364_-302+3365insCATGTTCTTTCCTGTC	B3GNT5	ENSG00000176597.12	transcript	ENST00000326505.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
B3GNT5_chr3_183248253_183278385	183269230	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01515.hp2 HG02132.hp1 others(6): Show HG01074.hp2 HG01515.hp2 HG02132.hp1 HG02451.hp2 HG02486.hp1 HG02735.hp1 HG03669.hp1 HG03927.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0017 a0001c0001t0001 a0001c0001t0004 a0001c0001t0017	a0001c0001t0001g0047 a0001c0001t0001g0064 a0001c0001t0001g0118 others(5): Show a0001c0001t0001g0047 a0001c0001t0001g0064 a0001c0001t0001g0118 a0001c0001t0001g0138 a0001c0001t0001g0147 a0001c0001t0001g0192 a0001c0001t0004g0122 a0001c0001t0017g0067	9	193	0.0466	16	c.-30 others(33): Show c.-301-265_-301-250dupTTTTTTTTTTTTTTTT	B3GNT5	ENSG00000176597.12	transcript	ENST00000326505.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
B3GNT8_chr19_41420359_41432374	41428633	A A	ACACAGTC others(9): Show ACACAGTCTGTCAGCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG02258.hp2 HG02895.hp1 others(5): Show HG01123.hp1 HG02258.hp2 HG02895.hp1 HG02922.hp2 HG02965.hp1 HG03195.hp2 HG03540.hp1 HG03579.hp2	a0001 a0009 a0001 a0009	a0001c0003 a0009c0015 a0001c0003 a0009c0015	a0001c0003t0001 a0001c0003t0009 a0009c0015t0001 a0001c0003t0001 a0001c0003t0009 a0009c0015t0001	a0001c0003t0001g0006 a0001c0003t0009g0033 a0009c0015t0001g0027 a0001c0003t0001g0006 a0001c0003t0009g0033 a0009c0015t0001g0027	8	418	0.0191	16	c.-13 others(27): Show c.-1398_-1383dupCTGCTGACAGACTGTG	B3GNT8	ENSG00000177191.3	transcript	ENST00000691102.1	protein_coding		1260		chr19	TogoVar
B3GNTL1_chr17_82937149_83056770	82940219	G G	GCACACAC others(9): Show GCACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG01106.hp1 HG01516.hp2 others(3): Show HG00609.hp2 HG01106.hp1 HG01516.hp2 HG01934.hp1 HG02056.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0001c0012	a0001c0001t0004 a0001c0002t0002 a0001c0006t0002 others(1): Show a0001c0001t0004 a0001c0002t0002 a0001c0006t0002 a0001c0012t0002	a0001c0001t0004g0240 a0001c0002t0002g0077 a0001c0002t0002g0113 others(3): Show a0001c0001t0004g0240 a0001c0002t0002g0077 a0001c0002t0002g0113 a0001c0002t0002g0122 a0001c0006t0002g0026 a0001c0012t0002g0080	6	114	0.0526	16	c.38 others(27): Show c.3854_*3855insTGTGTGTGTGTGTGTG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding		1929		chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82940221	G G	GCACACAC others(9): Show GCACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00597.hp2 NA18944.hp2 others(2): Show HG00438.hp1 HG00597.hp2 NA18944.hp2 NA18967.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0008 a0001c0001t0002 a0001c0002t0008	a0001c0001t0002g0059 a0001c0002t0008g0097 a0001c0002t0008g0098 others(2): Show a0001c0001t0002g0059 a0001c0002t0008g0097 a0001c0002t0008g0098 a0001c0002t0008g0105 a0001c0002t0008g0106	5	66	0.0758	16	c.38 others(27): Show c.3837_*3852dupTGTGTGTGTGTGTGTG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding		1927		chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82940221	G G	GCGCACAC others(9): Show GCGCACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0029 a0001c0002t0029	a0001c0002t0029g0074 a0001c0002t0029g0074	1	62	0.0161	16	c.38 others(27): Show c.3852_*3853insTGTGTGTGTGTGTGCG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding		1927		chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82946569	A A	AGTGTGTG others(9): Show AGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02280.hp1 HG02451.hp1 others(4): Show HG01891.hp2 HG02280.hp1 HG02451.hp1 NA18965.hp2 NA19043.hp2 NA19081.hp1 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0001c0003 a0001c0011 others(1): Show a0001c0002 a0001c0003 a0001c0011 a0003c0030	a0001c0002t0002 a0001c0003t0015 a0001c0011t0011 others(1): Show a0001c0002t0002 a0001c0003t0015 a0001c0011t0011 a0003c0030t0011	a0001c0002t0002g0066 a0001c0002t0002g0087 a0001c0003t0015g0194 others(4): Show a0001c0002t0002g0066 a0001c0002t0002g0087 a0001c0003t0015g0194 a0001c0003t0015g0195 a0001c0011t0011g0139 a0001c0011t0011g0140 a0003c0030t0011g0141	7	81	0.0864	16	c.24 others(31): Show c.24+294_*24+309dupACACACACACACACAC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	12/12			chr17	TogoVar
B4GALNT3_chr12_454939_568509	500865	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02738.hp2 NA19078.hp2 others(1): Show HG02602.hp1 HG02738.hp2 NA19078.hp2 NA20300.hp1	a0001 a0004 a0009 a0001 a0004 a0009	a0001c0001 a0001c0002 a0004c0028 others(1): Show a0001c0001 a0001c0002 a0004c0028 a0009c0018	a0001c0001t0053 a0001c0002t0009 a0004c0028t0004 others(1): Show a0001c0001t0053 a0001c0002t0009 a0004c0028t0004 a0009c0018t0005	a0001c0001t0053g0077 a0001c0002t0009g0241 a0004c0028t0004g0207 others(1): Show a0001c0001t0053g0077 a0001c0002t0009g0241 a0004c0028t0004g0207 a0009c0018t0005g0170	4	24	0.1667	16	c.170 others(35): Show c.170-34296_170-34281dupTTTTTTTTTTTTTTTT	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT3_chr12_454939_568509	525086	T T	TTTTATTT others(9): Show TTTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01358.hp2 HG02027.hp1 others(12): Show HG01255.hp1 HG01358.hp2 HG02027.hp1 HG02080.hp1 HG02109.hp1 HG02300.hp2 HG02559.hp2 HG02735.hp2 HG02809.hp2 HG02922.hp1 HG02965.hp1 HG03098.hp1 NA18994.hp1 NA19240.hp2 NA20752.hp1	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0021	a0001c0001 a0001c0002 a0001c0010 others(5): Show a0001c0001 a0001c0002 a0001c0010 a0001c0013 a0001c0042 a0004c0005 a0005c0006 a0021c0046	a0001c0001t0001 a0001c0001t0003 a0001c0001t0020 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0020 a0001c0001t0058 a0001c0001t0060 a0001c0002t0003 a0001c0002t0011 a0001c0002t0019 a0001c0010t0002 a0001c0013t0001 a0001c0013t0020 a0001c0042t0002 a0004c0005t0016 a0005c0006t0016 a0021c0046t0013	a0001c0001t0001g0393 a0001c0001t0003g0101 a0001c0001t0020g0130 others(12): Show a0001c0001t0001g0393 a0001c0001t0003g0101 a0001c0001t0020g0130 a0001c0001t0058g0121 a0001c0001t0060g0080 a0001c0002t0003g0035 a0001c0002t0011g0239 a0001c0002t0019g0012 a0001c0010t0002g0256 a0001c0013t0001g0128 a0001c0013t0020g0129 a0001c0042t0002g0203 a0004c0005t0016g0295 a0005c0006t0016g0188 a0021c0046t0013g0245	15	262	0.0573	16	c.170 others(35): Show c.170-10061_170-10046dupTATTTATTTATTTATT	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT3_chr12_454939_568509	525092	T T	TTATTTAT others(9): Show TTATTTATTTATTTATG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp1 HG00609.hp2 others(71): Show HG00423.hp1 HG00609.hp1 HG00609.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00741.hp2 HG01243.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01496.hp2 HG01928.hp1 HG01934.hp1 HG01978.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02129.hp2 HG02148.hp1 HG02165.hp1 HG02273.hp1 HG02293.hp2 HG02300.hp1 HG02523.hp1 HG03239.hp1 HG03654.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03942.hp1 HG04228.hp1 NA18945.hp1 NA18948.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18957.hp1 NA18959.hp2 NA18962.hp2 NA18966.hp2 NA18967.hp1 NA18971.hp2 NA18973.hp1 NA18979.hp1 NA18979.hp2 NA18982.hp2 NA18983.hp2 NA18994.hp2 NA18998.hp1 NA19000.hp2 NA19007.hp1 NA19011.hp1 NA19058.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19074.hp1 NA19078.hp1 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19087.hp2 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA20300.hp2	a0001 a0002 a0014 others(3): Show a0001 a0002 a0014 a0015 a0017 a0026	a0001c0001 a0001c0002 a0001c0010 others(6): Show a0001c0001 a0001c0002 a0001c0010 a0001c0039 a0002c0003 a0014c0021 a0015c0043 a0017c0050 a0026c0031	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(27): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0015 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0001t0035 a0001c0001t0042 a0001c0001t0045 a0001c0001t0069 a0001c0002t0001 a0001c0002t0006 a0001c0002t0009 a0001c0002t0036 a0001c0010t0002 a0001c0039t0002 a0002c0003t0002 a0002c0003t0012 a0014c0021t0001 a0014c0021t0002 a0015c0043t0004 a0017c0050t0026 a0026c0031t0004	a0001c0001t0001g0034 a0001c0001t0001g0096 a0001c0001t0001g0100 others(71): Show a0001c0001t0001g0034 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0223 a0001c0001t0001g0257 a0001c0001t0001g0269 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0358 a0001c0001t0001g0369 a0001c0001t0001g0373 a0001c0001t0001g0374 a0001c0001t0001g0375 a0001c0001t0001g0376 a0001c0001t0002g0024 a0001c0001t0002g0029 a0001c0001t0002g0045 a0001c0001t0002g0099 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0318 a0001c0001t0004g0042 a0001c0001t0004g0105 a0001c0001t0004g0106 a0001c0001t0004g0176 a0001c0001t0005g0125 a0001c0001t0005g0326 a0001c0001t0005g0380 a0001c0001t0007g0017 a0001c0001t0007g0025 a0001c0001t0007g0030 a0001c0001t0007g0072 a0001c0001t0007g0120 a0001c0001t0007g0289 a0001c0001t0008g0002 a0001c0001t0008g0270 a0001c0001t0008g0381 a0001c0001t0009g0026 a0001c0001t0009g0028 a0001c0001t0009g0071 a0001c0001t0009g0117 a0001c0001t0009g0386 a0001c0001t0012g0113 a0001c0001t0012g0353 a0001c0001t0015g0360 a0001c0001t0015g0366 a0001c0001t0015g0377 a0001c0001t0021g0325 a0001c0001t0024g0055 a0001c0001t0025g0022 a0001c0001t0035g0378 a0001c0001t0042g0368 a0001c0001t0045g0359 a0001c0001t0069g0339 a0001c0002t0001g0271 a0001c0002t0006g0138 a0001c0002t0009g0299 a0001c0002t0036g0137 a0001c0010t0002g0018 a0001c0010t0002g0098 a0001c0039t0002g0319 a0002c0003t0002g0103 a0002c0003t0012g0108 a0014c0021t0001g0031 a0014c0021t0002g0254 a0015c0043t0004g0119 a0017c0050t0026g0274 a0026c0031t0004g0066	74	392	0.1888	16	c.170 others(35): Show c.170-10059_170-10058insGTATTTATTTATTTAT	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT3_chr12_454939_568509	525104	T T	TTATGTAT others(9): Show TTATGTATTTATTTATG	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0370 a0001c0001t0011g0370	1	392	0.0026	16	c.170 others(35): Show c.170-10059_170-10058insGTATTTATTTATGTAT	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT3_chr12_454939_568509	552292	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0021 a0021	a0021c0046 a0021c0046	a0021c0046t0013 a0021c0046t0013	a0021c0046t0013g0245 a0021c0046t0013g0245	1	71	0.0141	16	c.120 others(33): Show c.1209-146_1209-131dupACACACACACACACAC	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT4_chr11_364499_387117	369206	C C	CCCGAGCC others(9): Show CCCGAGCCCCAGCGCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG01361.hp2 HG01255.hp2 HG01361.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0006 a0002c0002t0001 a0002c0002t0006	a0002c0002t0001g0162 a0002c0002t0006g0076 a0002c0002t0001g0162 a0002c0002t0006g0076	2	182	0.0110	16	c.-59 others(25): Show c.-598_-597insCCGAGCCCCAGCGCTT	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding		292		chr11	TogoVar
B4GALNT4_chr11_364499_387117	374727	A A	AGGAGGAA others(9): Show AGGAGGAAGGGAGGGAG	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0106 a0001c0003t0001g0106	1	182	0.0055	16	c.784 others(31): Show c.784-732_784-717dupGAGGAAGGGAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	375085	A A	AGGGAGGA others(9): Show AGGGAGGAAGGAAGGAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0002 a0004c0014t0002	a0004c0014t0002g0029 a0004c0014t0002g0029	1	180	0.0056	16	c.784 others(31): Show c.784-370_784-369insAAGGAAGGATGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALT1_chr9_33105642_33172336	33135890	A A	AGTGTGTG others(9): Show AGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG06807.hp1 HG01168.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0018 a0001c0001t0004 a0001c0001t0018	a0001c0001t0004g0159 a0001c0001t0018g0169 a0001c0001t0004g0159 a0001c0001t0018g0169	2	332	0.0060	16	c.413 others(31): Show c.413-482_413-467dupACACACACACACACAC	B4GALT1	ENSG00000086062.13	transcript	ENST00000379731.5	protein_coding	1/5			chr9	TogoVar
B4GALT1_chr9_33105642_33172336	33157063	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02630.hp1 HG02683.hp2 others(10): Show HG02257.hp2 HG02630.hp1 HG02683.hp2 HG03490.hp1 HG03492.hp1 HG03710.hp2 HG03831.hp1 NA18946.hp1 NA18972.hp1 NA18984.hp2 NA18985.hp2 NA19057.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0053	a0001c0001t0001g0314 a0001c0001t0002g0230 a0001c0001t0002g0231 others(10): Show a0001c0001t0001g0314 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0276 a0001c0001t0003g0298 a0001c0001t0003g0303 a0001c0001t0005g0209 a0001c0001t0005g0339 a0001c0001t0053g0196	13	43	0.3023	16	c.412 others(33): Show c.412+9679_412+9694dupGTGTGTGTGTGTGTGT	B4GALT1	ENSG00000086062.13	transcript	ENST00000379731.5	protein_coding	1/5			chr9	TogoVar
B4GALT1_chr9_33105642_33172336	33157121	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02630.hp2 NA18959.hp1 HG02280.hp2 HG02630.hp2 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0010 a0001c0001t0016 a0001c0001t0004 a0001c0001t0010 a0001c0001t0016	a0001c0001t0004g0172 a0001c0001t0010g0027 a0001c0001t0016g0053 a0001c0001t0004g0172 a0001c0001t0010g0027 a0001c0001t0016g0053	3	24	0.1250	16	c.412 others(33): Show c.412+9621_412+9636dupGTGTGTGTGTGTGTGT	B4GALT1	ENSG00000086062.13	transcript	ENST00000379731.5	protein_coding	1/5			chr9	TogoVar
B4GALT5_chr20_49627945_49718878	49636907	G G	GACACACA others(9): Show GACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01358.hp1 HG02486.hp1 others(2): Show HG01261.hp1 HG01358.hp1 HG02486.hp1 HG02717.hp1 HG03834.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0027 a0001c0001t0043 a0001c0002t0050 others(1): Show a0001c0001t0027 a0001c0001t0043 a0001c0002t0050 a0002c0004t0005	a0001c0001t0027g0098 a0001c0001t0043g0125 a0001c0002t0050g0203 others(2): Show a0001c0001t0027g0098 a0001c0001t0043g0125 a0001c0002t0050g0203 a0002c0004t0005g0222 a0002c0004t0005g0233	5	129	0.0388	16	c.101 others(33): Show c.1019+418_1019+433dupGTGTGTGTGTGTGTGT	B4GALT5	ENSG00000158470.5	transcript	ENST00000371711.4	protein_coding	8/8			chr20	TogoVar
B4GALT5_chr20_49627945_49718878	49643922	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0178 a0001c0001t0006g0178	1	53	0.0189	16	c.365 others(31): Show c.365-288_365-273dupAAAAAAAAAAAAAAAA	B4GALT5	ENSG00000158470.5	transcript	ENST00000371711.4	protein_coding	3/8			chr20	TogoVar
B4GALT5_chr20_49627945_49718878	49703730	A A	AAAAAAAA others(9): Show AAAAAAAAAAAAATAAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02895.hp1 HG02897.hp1 others(3): Show HG00741.hp2 HG02895.hp1 HG02897.hp1 HG02970.hp1 HG02976.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0173 a0001c0001t0006g0174 a0001c0001t0006g0175 others(3): Show a0001c0001t0006g0173 a0001c0001t0006g0174 a0001c0001t0006g0175 a0001c0001t0006g0176 a0001c0001t0006g0177 a0001c0001t0006g0178	6	173	0.0347	16	c.115 others(33): Show c.115+9845_115+9846insATTATTTTTTTTTTTT	B4GALT5	ENSG00000158470.5	transcript	ENST00000371711.4	protein_coding	1/8			chr20	TogoVar
B4GALT6_chr18_31617246_31689581	31664162	C C	CACCAAAA others(9): Show CACCAAAATGGCACCCA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG00438.hp1 others(102): Show HG00099.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01109.hp2 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01257.hp1 HG01516.hp1 HG01891.hp2 HG01975.hp1 HG01978.hp2 HG01993.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp2 HG02056.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02148.hp1 HG02155.hp1 HG02258.hp2 HG02486.hp2 HG02523.hp1 HG02698.hp1 HG02698.hp2 HG02976.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG04184.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp2 NA18942.hp1 NA18946.hp1 NA18948.hp1 NA18950.hp2 NA18952.hp2 NA18953.hp2 NA18956.hp1 NA18961.hp1 NA18962.hp1 NA18965.hp1 NA18969.hp2 NA18971.hp1 NA18972.hp1 NA18973.hp2 NA18975.hp2 NA18978.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18987.hp1 NA18988.hp1 NA18991.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp2 NA18999.hp2 NA19005.hp1 NA19006.hp1 NA19009.hp2 NA19011.hp1 NA19030.hp1 NA19056.hp1 NA19062.hp2 NA19065.hp1 NA19072.hp2 NA19074.hp1 NA19081.hp1 NA19082.hp2 NA19083.hp1 NA19088.hp1 NA19089.hp1 NA19089.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014 a0001c0001t0025 a0001c0001t0026 a0001c0001t0029 a0001c0001t0033 a0001c0001t0036 a0001c0001t0037 a0004c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(93): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0065 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0002g0076 a0001c0001t0002g0080 a0001c0001t0002g0088 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0164 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0109 a0001c0001t0003g0227 a0001c0001t0004g0100 a0001c0001t0004g0123 a0001c0001t0006g0106 a0001c0001t0006g0120 a0001c0001t0009g0064 a0001c0001t0009g0102 a0001c0001t0009g0103 a0001c0001t0009g0157 a0001c0001t0009g0158 a0001c0001t0013g0272 a0001c0001t0014g0143 a0001c0001t0014g0144 a0001c0001t0025g0128 a0001c0001t0026g0108 a0001c0001t0029g0107 a0001c0001t0033g0165 a0001c0001t0036g0283 a0001c0001t0037g0284 a0004c0007t0001g0282	105	210	0.5000	16	c.232 others(33): Show c.232+2093_232+2094insTGGGTGCCATTTTGGT	B4GALT6	ENSG00000118276.12	transcript	ENST00000306851.10	protein_coding	2/8			chr18	TogoVar
B4GALT6_chr18_31617246_31689581	31664162	C C	CACCAAGA others(9): Show CACCAAGACGGCACCCA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0216 a0001c0001t0012g0216	1	106	0.0094	16	c.232 others(33): Show c.232+2093_232+2094insTGGGTGCCGTCTTGGT	B4GALT6	ENSG00000118276.12	transcript	ENST00000306851.10	protein_coding	2/8			chr18	TogoVar
B4GALT6_chr18_31617246_31689581	31664162	C C	CACCAAGA others(9): Show CACCAAGATGGCACCCA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01070.hp2 HG01071.hp1 others(90): Show HG00280.hp1 HG01070.hp2 HG01071.hp1 HG01099.hp2 HG01109.hp1 HG01167.hp2 HG01169.hp1 HG01243.hp2 HG01257.hp2 HG01258.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01884.hp1 HG01952.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02056.hp1 HG02074.hp1 HG02109.hp2 HG02135.hp1 HG02165.hp1 HG02257.hp2 HG02273.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02922.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03579.hp2 HG03834.hp2 HG03927.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18952.hp1 NA18962.hp2 NA18971.hp2 NA18973.hp1 NA18978.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp2 NA18991.hp1 NA18993.hp2 NA18998.hp1 NA19005.hp2 NA19006.hp2 NA19009.hp1 NA19043.hp1 NA19054.hp1 NA19056.hp2 NA19058.hp1 NA19062.hp1 NA19081.hp2 NA19083.hp2 NA19085.hp2 NA20300.hp1 NA20752.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0005 a0002c0002 others(1): Show a0001c0001 a0001c0005 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0023 a0001c0001t0024 a0001c0001t0028 a0001c0001t0031 a0001c0001t0038 a0001c0005t0007 a0002c0002t0003 a0002c0002t0005 a0002c0002t0032 a0003c0004t0030	a0001c0001t0001g0010 a0001c0001t0001g0156 a0001c0001t0001g0182 others(84): Show a0001c0001t0001g0010 a0001c0001t0001g0156 a0001c0001t0001g0182 a0001c0001t0001g0192 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0234 a0001c0001t0001g0241 a0001c0001t0002g0152 a0001c0001t0002g0199 a0001c0001t0002g0201 a0001c0001t0002g0206 a0001c0001t0002g0228 a0001c0001t0002g0239 a0001c0001t0003g0072 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0166 a0001c0001t0003g0168 a0001c0001t0003g0180 a0001c0001t0003g0231 a0001c0001t0003g0232 a0001c0001t0003g0233 a0001c0001t0003g0235 a0001c0001t0003g0238 a0001c0001t0003g0242 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0251 a0001c0001t0003g0253 a0001c0001t0004g0002 a0001c0001t0004g0011 a0001c0001t0004g0181 a0001c0001t0004g0193 a0001c0001t0004g0194 a0001c0001t0004g0195 a0001c0001t0004g0198 a0001c0001t0004g0204 a0001c0001t0004g0255 a0001c0001t0005g0014 a0001c0001t0005g0169 a0001c0001t0005g0226 a0001c0001t0005g0273 a0001c0001t0005g0274 a0001c0001t0006g0230 a0001c0001t0006g0236 a0001c0001t0007g0035 a0001c0001t0007g0173 a0001c0001t0007g0174 a0001c0001t0007g0208 a0001c0001t0007g0217 a0001c0001t0007g0220 a0001c0001t0007g0237 a0001c0001t0008g0218 a0001c0001t0008g0221 a0001c0001t0008g0222 a0001c0001t0008g0223 a0001c0001t0008g0224 a0001c0001t0008g0225 a0001c0001t0008g0240 a0001c0001t0008g0246 a0001c0001t0010g0275 a0001c0001t0010g0276 a0001c0001t0011g0015 a0001c0001t0012g0069 a0001c0001t0012g0219 a0001c0001t0013g0170 a0001c0001t0016g0286 a0001c0001t0016g0287 a0001c0001t0019g0021 a0001c0001t0020g0020 a0001c0001t0023g0070 a0001c0001t0024g0071 a0001c0001t0028g0229 a0001c0001t0031g0171 a0001c0001t0038g0285 a0001c0005t0007g0167 a0002c0002t0003g0279 a0002c0002t0003g0280 a0002c0002t0003g0281 a0002c0002t0005g0278 a0002c0002t0032g0277 a0003c0004t0030g0205	93	198	0.4697	16	c.232 others(33): Show c.232+2093_232+2094insTGGGTGCCATCTTGGT	B4GALT6	ENSG00000118276.12	transcript	ENST00000306851.10	protein_coding	2/8			chr18	TogoVar
B4GALT6_chr18_31617246_31689581	31688247	G G	GTATATAT others(9): Show GTATATATATATACATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0069 a0001c0001t0012g0069	1	289	0.0035	16	c.-38 others(27): Show c.-3822_-3821insTATGTATATATATATA	B4GALT6	ENSG00000118276.12	transcript	ENST00000306851.10	protein_coding		3667		chr18	TogoVar
B4GALT6_chr18_31617246_31689581	31688262	T T	TATATATA others(9): Show TATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02723.hp2 HG02809.hp1 others(2): Show HG02257.hp2 HG02723.hp2 HG02809.hp1 HG03041.hp1 NA19085.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0020 a0002c0002t0003 a0002c0002t0005 a0001c0001t0020 a0002c0002t0003 a0002c0002t0005	a0001c0001t0020g0020 a0002c0002t0003g0279 a0002c0002t0003g0280 others(2): Show a0001c0001t0020g0020 a0002c0002t0003g0279 a0002c0002t0003g0280 a0002c0002t0003g0281 a0002c0002t0005g0278	5	303	0.0165	16	c.-38 others(27): Show c.-3837_-3836insGTATATATATATATAT	B4GALT6	ENSG00000118276.12	transcript	ENST00000306851.10	protein_coding		3682		chr18	TogoVar
BAALC_chr8_103135725_103235305	103171385	A A	AGAGGAAG others(9): Show AGAGGAAGGAAGGAAAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp2 others(161): Show HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00609.hp2 HG00642.hp2 HG00738.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01884.hp1 HG01884.hp2 HG01975.hp1 HG01993.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02055.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18943.hp1 NA18946.hp2 NA18948.hp2 NA18952.hp1 NA18953.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18964.hp1 NA18965.hp1 NA18967.hp1 NA18967.hp2 NA18969.hp2 NA18971.hp2 NA18974.hp2 NA18977.hp2 NA18980.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18987.hp1 NA18989.hp1 NA18991.hp2 NA18993.hp2 NA18994.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp2 NA19004.hp2 NA19007.hp1 NA19012.hp2 NA19054.hp1 NA19055.hp1 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19077.hp2 NA19081.hp2 NA19082.hp2 NA19088.hp2 NA19091.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0022 a0001c0001t0024 a0001c0003t0009 a0002c0002t0003	a0001c0001t0001g0037 a0001c0001t0001g0044 a0001c0001t0001g0062 others(141): Show a0001c0001t0001g0037 a0001c0001t0001g0044 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0115 a0001c0001t0001g0158 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0202 a0001c0001t0001g0206 a0001c0001t0001g0212 a0001c0001t0001g0225 a0001c0001t0001g0229 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0280 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0030 a0001c0001t0002g0034 a0001c0001t0002g0068 a0001c0001t0002g0074 a0001c0001t0002g0107 a0001c0001t0002g0120 a0001c0001t0002g0122 a0001c0001t0002g0146 a0001c0001t0002g0174 a0001c0001t0002g0176 a0001c0001t0002g0182 a0001c0001t0002g0184 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0201 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0207 a0001c0001t0002g0209 a0001c0001t0002g0211 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0226 a0001c0001t0002g0228 a0001c0001t0002g0237 a0001c0001t0002g0240 a0001c0001t0002g0245 a0001c0001t0002g0252 a0001c0001t0002g0285 a0001c0001t0002g0289 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0036 a0001c0001t0003g0173 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0232 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0004g0013 a0001c0001t0004g0016 a0001c0001t0004g0103 a0001c0001t0004g0110 a0001c0001t0004g0111 a0001c0001t0004g0112 a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0183 a0001c0001t0004g0194 a0001c0001t0004g0200 a0001c0001t0005g0233 a0001c0001t0005g0239 a0001c0001t0005g0241 a0001c0001t0005g0246 a0001c0001t0005g0249 a0001c0001t0005g0251 a0001c0001t0005g0284 a0001c0001t0006g0032 a0001c0001t0006g0033 a0001c0001t0006g0047 a0001c0001t0007g0007 a0001c0001t0007g0025 a0001c0001t0007g0203 a0001c0001t0007g0208 a0001c0001t0007g0210 a0001c0001t0008g0155 a0001c0001t0008g0238 a0001c0001t0008g0275 a0001c0001t0008g0279 a0001c0001t0010g0088 a0001c0001t0010g0089 a0001c0001t0010g0248 a0001c0001t0010g0277 a0001c0001t0010g0286 a0001c0001t0012g0197 a0001c0001t0012g0247 a0001c0001t0013g0276 a0001c0001t0013g0278 a0001c0001t0014g0156 a0001c0001t0014g0283 a0001c0001t0015g0157 a0001c0001t0015g0242 a0001c0001t0022g0185 a0001c0001t0024g0281 a0001c0003t0009g0256 a0001c0003t0009g0257 a0001c0003t0009g0258 a0001c0003t0009g0259 a0002c0002t0003g0039 a0002c0002t0003g0282	164	330	0.4970	16	c.160 others(35): Show c.160+30342_160+30343insAGGAGGAAGGAAGGAA	BAALC	ENSG00000164929.17	transcript	ENST00000309982.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
BABAM2_chr2_27885729_28343901	27983942	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01081.hp1 HG01081.hp2 others(10): Show HG00735.hp2 HG01081.hp1 HG01081.hp2 HG01346.hp2 HG02074.hp1 HG02135.hp1 HG02148.hp1 HG02280.hp1 HG02572.hp1 HG02738.hp2 HG02897.hp1 HG02897.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0046 a0001c0001t0001g0056 a0001c0001t0001g0058 others(10): Show a0001c0001t0001g0046 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0084 a0001c0001t0001g0143 a0001c0001t0002g0020 a0001c0001t0002g0144	13	16	0.8125	16	c.206 others(33): Show c.206-4047_206-4032dupTTTTTTTTTTTTTTTT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28026959	A A	AATATATA others(9): Show AATATATATATATAAAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02723.hp1 HG03516.hp2 HG02630.hp1 HG02723.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0015	3	126	0.0238	16	c.495 others(33): Show c.495+1550_495+1551insTAAATATATATATATA	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28026971	A A	AATATATA others(9): Show AATATATATATATAAAT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG03017.hp2 HG02735.hp1 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0023 a0001c0001t0001g0025	2	122	0.0164	16	c.495 others(33): Show c.495+1558_495+1559insTATATAAATATATATA	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28040294	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01081.hp1 HG01106.hp1 others(8): Show HG00735.hp1 HG01081.hp1 HG01106.hp1 HG01243.hp1 HG02572.hp1 HG02698.hp2 HG03017.hp1 HG03471.hp2 HG03486.hp1 NA18974.hp2 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0066 others(8): Show a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0066 a0001c0001t0001g0074 a0001c0001t0001g0084 a0001c0001t0002g0028 a0001c0001t0002g0030 a0001c0001t0002g0051 a0001c0001t0002g0064 a0001c0001t0002g0069 a0001c0001t0003g0068	11	23	0.4783	16	c.496 others(33): Show c.496-5422_496-5407dupTTTTTTTTTTTTTTTT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28112083	C C	CTCTTTCT others(9): Show CTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00738.hp2 HG01081.hp2 others(8): Show HG00140.hp2 HG00738.hp2 HG01081.hp2 HG02451.hp1 HG02622.hp1 HG02698.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03471.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0061 a0001c0001t0001g0073 a0001c0001t0001g0082 others(8): Show a0001c0001t0001g0061 a0001c0001t0001g0073 a0001c0001t0001g0082 a0001c0001t0001g0109 a0001c0001t0002g0030 a0001c0001t0002g0033 a0001c0001t0002g0039 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0107 a0001c0001t0002g0132	11	88	0.1250	16	c.571 others(35): Show c.571-17138_571-17123dupCTTTCTTTCTTTCTTT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28112146	T T	TTTCTTTC others(9): Show TTTCTTTCTTTCTTTCC	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	140	0.0071	16	c.571 others(35): Show c.571-17123_571-17122insCTTTCTTTCTTTCCTT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28112147	T T	TTCTTTCT others(9): Show TTCTTTCTTTCCCTCCC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	123	0.0081	16	c.571 others(35): Show c.571-17123_571-17122insCTTTCTTTCCCTCCCT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28112147	T T	TTCTTTCT others(9): Show TTCTTTCTTTCTTTCCC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	123	0.0081	16	c.571 others(35): Show c.571-17123_571-17122insCTTTCTTTCTTTCCCT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28112193	C C	CCCTTCCT others(9): Show CCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0126 a0001c0001t0002g0126	1	110	0.0091	16	c.571 others(35): Show c.571-17075_571-17074insTCCTTCCTTCCTTCCT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28176569	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01106.hp2 HG02074.hp2 others(6): Show HG01069.hp2 HG01106.hp2 HG02074.hp2 NA18906.hp2 NA18964.hp1 NA18964.hp2 NA18982.hp2 NA19077.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0102 others(6): Show a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0102 a0001c0001t0001g0133 a0001c0001t0001g0155 a0001c0001t0002g0087 a0001c0001t0002g0098 a0001c0001t0002g0101 a0001c0001t0002g0105	9	13	0.6923	16	c.680 others(35): Show c.680+47201_680+47216dupAAAAAAAAAAAAAAAA	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28183739	T T	TCACACAC others(9): Show TCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02615.hp1 HG03139.hp1 others(5): Show HG01069.hp2 HG02615.hp1 HG03139.hp1 HG03516.hp1 NA18906.hp1 NA18954.hp2 NA19091.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0102 others(5): Show a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0102 a0001c0001t0002g0010 a0001c0001t0002g0016 a0001c0001t0002g0048 a0001c0001t0002g0063 a0001c0001t0002g0112	8	11	0.7273	16	c.681 others(35): Show c.681-53443_681-53428dupACACACACACACACAC	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28183740	C C	CTCACACA others(9): Show CTCACACACACACACAT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01496.hp2 HG01433.hp1 HG01496.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0017 a0002c0002t0001g0085 a0001c0001t0001g0017 a0002c0002t0001g0085	2	156	0.0128	16	c.681 others(35): Show c.681-53462_681-53461insTCACACACACACACAT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	7/11			chr2	TogoVar
BABAM2_chr2_27885729_28343901	28248207	C C	CTTTTTCT others(9): Show CTTTTTCTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	11	0.0909	16	c.934 others(33): Show c.934+3350_934+3351insCTTTTTTTTTTTTTTT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BACE2_chr21_41163160_41287530	41174138	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00642.hp1 HG01071.hp2 others(16): Show HG00280.hp2 HG00642.hp1 HG01071.hp2 HG01099.hp1 HG01192.hp2 HG02055.hp2 HG02622.hp1 HG02622.hp2 HG02809.hp1 HG02895.hp2 HG02896.hp2 HG03139.hp2 HG03195.hp1 HG03471.hp1 HG03579.hp2 NA18988.hp1 NA19011.hp1 NA19079.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0054 a0001c0002t0001 a0001c0002t0055	a0001c0001t0001g0263 a0001c0001t0002g0008 a0001c0001t0003g0059 others(16): Show a0001c0001t0001g0263 a0001c0001t0002g0008 a0001c0001t0003g0059 a0001c0001t0003g0063 a0001c0001t0005g0023 a0001c0001t0005g0148 a0001c0001t0006g0058 a0001c0001t0006g0188 a0001c0001t0007g0208 a0001c0001t0008g0078 a0001c0001t0008g0253 a0001c0001t0011g0069 a0001c0001t0011g0089 a0001c0001t0054g0191 a0001c0002t0001g0061 a0001c0002t0001g0166 a0001c0002t0001g0179 a0001c0002t0001g0254 a0001c0002t0055g0185	19	115	0.1652	16	c.312 others(33): Show c.312+5563_312+5564insTTTTTTTTTTTTTTTT	BACE2	ENSG00000182240.16	transcript	ENST00000330333.11	protein_coding	1/8			chr21	TogoVar
BACH2_chr6_89921528_90301843	89959097	G G	GCACACAC others(9): Show GCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	15	0.0667	16	c.244 others(33): Show c.244-7251_244-7236dupTGTGTGTGTGTGTGTG	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	6/8			chr6	TogoVar

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