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
BRWD1_chr21_39180482_39318632	39185295	T T	TAAAAAAA others(5): Show TAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02559.hp1 HG02630.hp2 others(2): Show HG01891.hp2 HG02559.hp1 HG02630.hp2 HG03098.hp2 HG03704.hp2	a0003 a0004 a0003 a0004	a0003c0004 a0004c0003 a0003c0004 a0004c0003	a0003c0004t0005 a0003c0004t0010 a0004c0003t0008 a0003c0004t0005 a0003c0004t0010 a0004c0003t0008	a0003c0004t0005g0121 a0003c0004t0010g0089 a0004c0003t0008g0029 others(2): Show a0003c0004t0005g0121 a0003c0004t0010g0089 a0004c0003t0008g0029 a0004c0003t0008g0032 a0004c0003t0008g0034	5	338	0.0148	12	c.10 others(25): Show c.10952_*10963dupTTTTTTTTTTTT	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding		186		chr21	TogoVar
BRWD1_chr21_39180482_39318632	39203438	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01074.hp1 HG01358.hp1 others(3): Show HG01070.hp2 HG01074.hp1 HG01358.hp1 HG03688.hp1 HG03942.hp1 homoSapiens_chm13v2.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0030 a0003c0004t0005 a0003c0004t0030	a0003c0004t0005g0096 a0003c0004t0005g0098 a0003c0004t0005g0123 others(3): Show a0003c0004t0005g0096 a0003c0004t0005g0098 a0003c0004t0005g0123 a0003c0004t0005g0126 a0003c0004t0005g0129 a0003c0004t0030g0131	6	338	0.0178	12	c.436 others(29): Show c.4365-905_4365-894dupAAAAAAAAAAAA	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	37/40			chr21	TogoVar
BRWD1_chr21_39180482_39318632	39207451	A A	AACACACA others(5): Show AACACACACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00733.hp1 HG01123.hp2 others(46): Show HG00280.hp1 HG00733.hp1 HG01123.hp2 HG01175.hp1 HG01192.hp2 HG01261.hp2 HG01346.hp1 HG01515.hp2 HG01891.hp1 HG01928.hp2 HG02004.hp1 HG02040.hp2 HG02055.hp1 HG02257.hp2 HG02280.hp1 HG02559.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02698.hp2 HG02717.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03471.hp1 HG03516.hp1 HG03654.hp2 HG06807.hp2 NA18522.hp1 NA18973.hp1 NA18973.hp2 NA18982.hp1 NA18990.hp2 NA19012.hp2 NA19078.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA21309.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0005 a0019	a0001c0001 a0003c0004 a0003c0005 others(4): Show a0001c0001 a0003c0004 a0003c0005 a0003c0016 a0004c0003 a0005c0007 a0019c0028	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(18): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0015 a0001c0001t0016 a0001c0001t0036 a0001c0001t0046 a0001c0001t0066 a0001c0001t0075 a0003c0004t0010 a0003c0004t0019 a0003c0004t0032 a0003c0005t0007 a0003c0005t0033 a0003c0016t0028 a0004c0003t0008 a0004c0003t0017 a0004c0003t0052 a0005c0007t0021 a0005c0007t0070 a0019c0028t0002	a0001c0001t0002g0060 a0001c0001t0003g0270 a0001c0001t0003g0294 others(46): Show a0001c0001t0002g0060 a0001c0001t0003g0270 a0001c0001t0003g0294 a0001c0001t0003g0303 a0001c0001t0003g0306 a0001c0001t0003g0320 a0001c0001t0004g0257 a0001c0001t0004g0275 a0001c0001t0004g0276 a0001c0001t0004g0277 a0001c0001t0004g0279 a0001c0001t0004g0283 a0001c0001t0004g0292 a0001c0001t0015g0253 a0001c0001t0016g0335 a0001c0001t0036g0067 a0001c0001t0046g0171 a0001c0001t0066g0310 a0001c0001t0075g0271 a0003c0004t0010g0092 a0003c0004t0010g0094 a0003c0004t0019g0076 a0003c0004t0032g0099 a0003c0005t0007g0100 a0003c0005t0007g0101 a0003c0005t0007g0103 a0003c0005t0007g0104 a0003c0005t0007g0107 a0003c0005t0007g0108 a0003c0005t0007g0113 a0003c0005t0007g0117 a0003c0005t0033g0115 a0003c0016t0028g0016 a0004c0003t0008g0018 a0004c0003t0008g0026 a0004c0003t0008g0027 a0004c0003t0008g0028 a0004c0003t0008g0029 a0004c0003t0008g0030 a0004c0003t0008g0031 a0004c0003t0008g0032 a0004c0003t0008g0033 a0004c0003t0008g0034 a0004c0003t0017g0011 a0004c0003t0017g0012 a0004c0003t0052g0145 a0005c0007t0021g0174 a0005c0007t0070g0289 a0019c0028t0002g0019	49	338	0.1450	12	c.419 others(31): Show c.4198-1189_4198-1178dupGTGTGTGTGTGT	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	36/40			chr21	TogoVar
BRWD1_chr21_39180482_39318632	39217010	A A	AATATATA others(5): Show AATATATATATAT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0200 a0002c0002t0001g0200	1	338	0.0030	12	c.365 others(31): Show c.3659+1130_3659+1141dupATATATATATAT	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	31/40			chr21	TogoVar
BRWD1_chr21_39180482_39318632	39244921	A A	AATATATA others(5): Show AATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG03139.hp2 HG06807.hp1 others(2): Show HG00408.hp2 HG03139.hp2 HG06807.hp1 NA19081.hp2 NA19240.hp2	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0006	a0001c0001 a0004c0003 a0005c0007 others(2): Show a0001c0001 a0004c0003 a0005c0007 a0006c0009 a0006c0015	a0001c0001t0003 a0004c0003t0006 a0005c0007t0021 others(2): Show a0001c0001t0003 a0004c0003t0006 a0005c0007t0021 a0006c0009t0012 a0006c0015t0012	a0001c0001t0003g0322 a0004c0003t0006g0163 a0005c0007t0021g0174 others(2): Show a0001c0001t0003g0322 a0004c0003t0006g0163 a0005c0007t0021g0174 a0006c0009t0012g0083 a0006c0015t0012g0085	5	338	0.0148	12	c.248 others(31): Show c.2481+2768_2481+2779dupATATATATATAT	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	21/40			chr21	TogoVar
BRWD1_chr21_39180482_39318632	39248641	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03704.hp1 HG03669.hp1 HG03704.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0222 a0002c0002t0001g0223 a0002c0002t0001g0222 a0002c0002t0001g0223	2	338	0.0059	12	c.235 others(29): Show c.2350-821_2350-810dupTTTTTTTTTTTT	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	20/40			chr21	TogoVar
BRWD1_chr21_39180482_39318632	39286016	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02258.hp2 HG02738.hp2 HG02055.hp2 HG02258.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0015 a0001c0001t0004 a0001c0001t0015	a0001c0001t0004g0257 a0001c0001t0015g0252 a0001c0001t0015g0254 a0001c0001t0004g0257 a0001c0001t0015g0252 a0001c0001t0015g0254	3	338	0.0089	12	c.832 others(29): Show c.832-5780_832-5769dupAAAAAAAAAAAA	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	8/40			chr21	TogoVar
BRWD3_chrX_80664503_80814877	80730389	A A	AAAAGAAA others(5): Show AAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01081.hp1 HG01167.hp1 others(25): Show HG00642.hp1 HG01081.hp1 HG01167.hp1 HG01169.hp1 HG01192.hp1 HG01884.hp1 HG02056.hp1 HG02451.hp1 HG02602.hp1 HG02615.hp1 HG02809.hp2 HG03130.hp1 HG03486.hp1 HG03491.hp2 HG03492.hp1 HG04204.hp1 NA18939.hp1 NA18945.hp1 NA18950.hp1 NA18954.hp1 NA18989.hp1 NA19000.hp1 NA19009.hp1 NA19012.hp1 NA19058.hp1 NA19074.hp1 NA19074.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0014 a0001c0001t0020 a0001c0001t0021 a0001c0001t0025 a0001c0001t0031 a0001c0001t0038 a0001c0001t0070 a0001c0001t0075 a0001c0001t0081 a0001c0001t0082 a0001c0001t0088 a0001c0001t0089 a0001c0001t0111 a0001c0001t0119 a0001c0001t0121 a0001c0001t0127 a0001c0001t0145 a0001c0001t0152 a0001c0001t0159	a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0002g0209 others(25): Show a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0002g0209 a0001c0001t0004g0079 a0001c0001t0007g0069 a0001c0001t0008g0124 a0001c0001t0008g0126 a0001c0001t0011g0103 a0001c0001t0014g0041 a0001c0001t0014g0042 a0001c0001t0020g0139 a0001c0001t0021g0142 a0001c0001t0025g0020 a0001c0001t0031g0092 a0001c0001t0038g0200 a0001c0001t0070g0053 a0001c0001t0075g0062 a0001c0001t0081g0091 a0001c0001t0082g0097 a0001c0001t0088g0128 a0001c0001t0089g0129 a0001c0001t0111g0169 a0001c0001t0119g0179 a0001c0001t0121g0181 a0001c0001t0127g0189 a0001c0001t0145g0238 a0001c0001t0152g0255 a0001c0001t0159g0262	28	265	0.1057	12	c.112 others(29): Show c.1128-381_1128-370dupCTTTCTTTCTTT	BRWD3	ENSG00000165288.11	transcript	ENST00000373275.5	protein_coding	12/40			chrX	TogoVar
BRWD3_chrX_80664503_80814877	80751981	C C	CATTATTA others(5): Show CATTATTATTATT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0130 a0001c0001t0130	a0001c0001t0130g0192 a0001c0001t0130g0192	1	265	0.0038	12	c.431 others(29): Show c.431-6264_431-6253dupAATAATAATAAT	BRWD3	ENSG00000165288.11	transcript	ENST00000373275.5	protein_coding	6/40			chrX	TogoVar
BRWD3_chrX_80664503_80814877	80809744	G G	GAGAGAGA others(5): Show GAGAGAGAGGAAA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0122 a0001c0001t0122	a0001c0001t0122g0182 a0001c0001t0122g0182	1	265	0.0038	12	c.-27 others(21): Show c.-274_-273insTTTCCTCTCTCT	BRWD3	ENSG00000165288.11	transcript	ENST00000373275.5	protein_coding	1/41	274		chrX	TogoVar
BSCL2_chr11_62685275_62712424	62696276	T T	TTGTGTGT others(5): Show TTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01106.hp2 HG01496.hp2 others(3): Show HG00741.hp2 HG01106.hp2 HG01496.hp2 HG01516.hp2 HG02809.hp2 HG03471.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0002 a0001c0001t0001 a0002c0003t0002	a0001c0001t0001g0235 a0001c0001t0001g0251 a0002c0003t0002g0025 others(3): Show a0001c0001t0001g0235 a0001c0001t0001g0251 a0002c0003t0002g0025 a0002c0003t0002g0026 a0002c0003t0002g0028 a0002c0003t0002g0029	6	330	0.0182	12	c.487 others(29): Show c.487-1566_487-1565insCACACACACACA	BSCL2	ENSG00000168000.16	transcript	ENST00000360796.10	protein_coding	3/10			chr11	TogoVar
BSCL2_chr11_62685275_62712424	62696278	T T	TTGTGTGT others(5): Show TTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00423.hp1 others(66): Show HG00099.hp1 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00597.hp1 HG00639.hp1 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01361.hp2 HG01891.hp1 HG01943.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02523.hp1 HG02622.hp1 HG02622.hp2 HG02683.hp2 HG02735.hp2 HG02922.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03239.hp1 HG03669.hp2 HG03834.hp2 NA18612.hp2 NA18941.hp1 NA18946.hp2 NA18950.hp2 NA18952.hp1 NA18955.hp2 NA18962.hp1 NA18962.hp2 NA18965.hp1 NA18974.hp1 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18986.hp2 NA18987.hp1 NA18994.hp1 NA18999.hp1 NA19002.hp2 NA19006.hp1 NA19055.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19074.hp1 NA19074.hp2 NA19084.hp1 NA19091.hp1 NA20129.hp1 NA20300.hp1 NA20805.hp2 NA21309.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0006 a0008	a0001c0001 a0002c0003 a0004c0008 others(2): Show a0001c0001 a0002c0003 a0004c0008 a0006c0005 a0008c0007	a0001c0001t0001 a0001c0001t0003 a0002c0003t0002 others(3): Show a0001c0001t0001 a0001c0001t0003 a0002c0003t0002 a0004c0008t0001 a0006c0005t0001 a0008c0007t0001	a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0014 others(55): Show a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0044 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0124 a0001c0001t0001g0132 a0001c0001t0001g0142 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0199 a0001c0001t0001g0205 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0003g0270 a0002c0003t0002g0010 a0002c0003t0002g0033 a0002c0003t0002g0038 a0002c0003t0002g0039 a0002c0003t0002g0040 a0004c0008t0001g0250 a0006c0005t0001g0088 a0008c0007t0001g0224	69	330	0.2091	12	c.487 others(29): Show c.487-1579_487-1568dupCACACACACACA	BSCL2	ENSG00000168000.16	transcript	ENST00000360796.10	protein_coding	3/10			chr11	TogoVar
BSCL2_chr11_62685275_62712424	62696278	T T	TTTTGTGT others(5): Show TTTTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01168.hp1 NA20129.hp2 HG01168.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0219 a0001c0002t0001g0071 a0001c0001t0001g0219 a0001c0002t0001g0071	2	330	0.0061	12	c.487 others(29): Show c.487-1568_487-1567insCACACACACAAA	BSCL2	ENSG00000168000.16	transcript	ENST00000360796.10	protein_coding	3/10			chr11	TogoVar
BSDC1_chr1_32359633_32399441	32360845	C C	CATAGATA others(5): Show CATAGATAGATAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp1 HG02896.hp2 NA18960.hp1 others(4): Show HG02165.hp1 HG02896.hp2 NA18960.hp1 NA18960.hp2 NA18972.hp1 NA19088.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0041 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0041 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0064 a0001c0001t0001g0112	7	170	0.0412	12	c.57 others(23): Show c.5765_*5776dupCTATCTATCTAT	BSDC1	ENSG00000160058.19	transcript	ENST00000455895.7	protein_coding		3787		chr1	TogoVar
BSG_chr19_567596_588493	576961	C C	CGTGTGTG others(5): Show CGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02129.hp1 HG02074.hp1 HG02129.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0033 a0001c0003t0004g0033	2	306	0.0065	12	c.68- others(25): Show c.68-813_68-812insGTGTGTGTGTGT	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding	1/8			chr19	TogoVar
BSG_chr19_567596_588493	586285	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0031 a0001c0001t0007g0031	1	306	0.0033	12	c.35 others(23): Show c.3541_*3542insTTTTTTTTTTTT	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding		2793		chr19	TogoVar
BSND_chr1_54993933_55022172	54996837	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 NA18966.hp1 HG03098.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0262 a0001c0001t0001 a0001c0001t0262	a0001c0001t0001g0071 a0001c0001t0262g0045 a0001c0001t0001g0071 a0001c0001t0262g0045	2	448	0.0045	12	c.-23 others(23): Show c.-2350_-2349insTTTTTTTTTTTT	BSND	ENSG00000162399.9	transcript	ENST00000651561.1	protein_coding		2095		chr1	TogoVar
BSN_chr3_49549477_49676549	49582952	C C	CATTTATT others(5): Show CATTTATTTATTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01109.hp1 HG01891.hp2 others(15): Show HG00323.hp2 HG01109.hp1 HG01891.hp2 HG02055.hp1 HG02109.hp1 HG02258.hp2 HG02486.hp2 HG02683.hp2 HG02896.hp2 HG02970.hp2 HG02976.hp2 HG03130.hp1 HG03139.hp1 HG03471.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA19000.hp2	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0001 a0002c0002 a0012c0009 a0001c0001 a0002c0002 a0012c0009	a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0031 a0002c0002t0001 a0012c0009t0001	a0001c0001t0002g0102 a0001c0001t0002g0114 a0001c0001t0002g0135 others(15): Show a0001c0001t0002g0102 a0001c0001t0002g0114 a0001c0001t0002g0135 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0178 a0001c0001t0003g0096 a0001c0001t0003g0128 a0001c0001t0003g0138 a0001c0001t0003g0154 a0001c0001t0011g0127 a0001c0001t0031g0142 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0185 a0012c0009t0001g0073	18	186	0.0968	12	c.224 others(31): Show c.224+28149_224+28160dupTTATTTATTTAT	BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
BSN_chr3_49549477_49676549	49586326	C C	CTCTATCT others(5): Show CTCTATCTATCTA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02976.hp2 HG03130.hp1 others(5): Show HG02735.hp2 HG02976.hp2 HG03130.hp1 HG03453.hp1 HG03942.hp1 NA18906.hp2 NA18973.hp2 NA18995.hp1	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0001 a0002c0002 a0012c0009 a0001c0001 a0002c0002 a0012c0009	a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0019 a0002c0002t0001 a0012c0009t0001	a0001c0001t0002g0113 a0001c0001t0002g0140 a0001c0001t0003g0159 others(5): Show a0001c0001t0002g0113 a0001c0001t0002g0140 a0001c0001t0003g0159 a0001c0001t0011g0098 a0001c0001t0019g0093 a0002c0002t0001g0180 a0002c0002t0001g0183 a0012c0009t0001g0073	8	186	0.0430	12	c.224 others(31): Show c.224+31527_224+31538dupTATCTATCTATC	BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
BSN_chr3_49549477_49676549	49613303	C C	CGAGAGAG others(5): Show CGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01257.hp2 HG01891.hp2 others(14): Show HG00544.hp2 HG01257.hp2 HG01891.hp2 HG02109.hp1 HG02559.hp1 HG02572.hp2 HG02735.hp1 HG02970.hp1 HG03041.hp2 HG03098.hp2 HG06807.hp1 NA18522.hp1 NA18951.hp2 NA18995.hp1 NA19000.hp1 NA19070.hp1 NA20129.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0006 a0007 a0011 a0020	a0001c0001 a0002c0002 a0003c0003 others(4): Show a0001c0001 a0002c0002 a0003c0003 a0006c0005 a0007c0011 a0011c0013 a0020c0024	a0001c0001t0002 a0001c0001t0003 a0001c0001t0019 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0019 a0002c0002t0001 a0003c0003t0004 a0006c0005t0008 a0007c0011t0001 a0011c0013t0013 a0020c0024t0007	a0001c0001t0002g0131 a0001c0001t0003g0041 a0001c0001t0003g0119 others(14): Show a0001c0001t0002g0131 a0001c0001t0003g0041 a0001c0001t0003g0119 a0001c0001t0003g0155 a0001c0001t0019g0093 a0002c0002t0001g0076 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0185 a0003c0003t0004g0014 a0006c0005t0008g0064 a0006c0005t0008g0068 a0006c0005t0008g0162 a0007c0011t0001g0066 a0007c0011t0001g0067 a0011c0013t0013g0051 a0020c0024t0007g0008	17	186	0.0914	12	c.225 others(31): Show c.225-11637_225-11626dupGAGAGAGAGAGA	BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
BSN_chr3_49549477_49676549	49617283	T T	TTATATAT others(5): Show TTATATATATATA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01516.hp1 HG02257.hp1 HG01070.hp1 HG01516.hp1 HG02257.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0006 a0003c0004t0004 a0003c0004t0006	a0003c0004t0004g0024 a0003c0004t0006g0029 a0003c0004t0006g0033 a0003c0004t0004g0024 a0003c0004t0006g0029 a0003c0004t0006g0033	3	186	0.0161	12	c.225 others(29): Show c.225-7667_225-7656dupTATATATATATA	BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
BSN_chr3_49549477_49676549	49624300	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp1 others(20): Show HG00099.hp1 HG00140.hp2 HG00323.hp1 HG00642.hp1 HG01069.hp1 HG01071.hp1 HG01167.hp1 HG01516.hp2 HG01934.hp1 HG02109.hp1 HG02615.hp1 HG02809.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03130.hp1 HG03654.hp2 HG03942.hp2 NA18522.hp1 NA18906.hp2 NA19065.hp1 NA20129.hp1 NA20752.hp2	a0001 a0002 a0012 others(2): Show a0001 a0002 a0012 a0013 a0015	a0001c0001 a0002c0002 a0002c0019 others(3): Show a0001c0001 a0002c0002 a0002c0019 a0012c0009 a0013c0010 a0015c0036	a0001c0001t0012 a0002c0002t0001 a0002c0002t0017 others(4): Show a0001c0001t0012 a0002c0002t0001 a0002c0002t0017 a0002c0019t0001 a0012c0009t0001 a0013c0010t0001 a0015c0036t0001	a0001c0001t0012g0057 a0002c0002t0001g0055 a0002c0002t0001g0061 others(20): Show a0001c0001t0012g0057 a0002c0002t0001g0055 a0002c0002t0001g0061 a0002c0002t0001g0063 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0152 a0002c0002t0001g0180 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0017g0058 a0002c0019t0001g0056 a0012c0009t0001g0072 a0012c0009t0001g0073 a0013c0010t0001g0065 a0015c0036t0001g0060	23	186	0.1237	12	c.225 others(27): Show c.225-669_225-658dupTTTTTTTTTTTT	BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
BSN_chr3_49549477_49676549	49673087	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00642.hp1 HG00733.hp2 others(23): Show HG00544.hp1 HG00642.hp1 HG00733.hp2 HG01168.hp1 HG01258.hp2 HG01433.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01981.hp1 HG02055.hp1 HG02109.hp2 HG02738.hp2 HG03098.hp1 HG03098.hp2 HG03471.hp2 HG03516.hp2 HG03942.hp1 HG04115.hp1 NA18963.hp2 NA18973.hp2 NA18979.hp1 NA18995.hp2 NA19000.hp1 NA19065.hp2 NA19079.hp2	a0001 a0003 a0004 others(5): Show a0001 a0003 a0004 a0006 a0010 a0017 a0022 a0024	a0001c0001 a0003c0004 a0004c0006 others(6): Show a0001c0001 a0003c0004 a0004c0006 a0004c0022 a0006c0005 a0010c0015 a0017c0037 a0022c0031 a0024c0035	a0001c0001t0002 a0001c0001t0012 a0001c0001t0032 others(9): Show a0001c0001t0002 a0001c0001t0012 a0001c0001t0032 a0003c0004t0004 a0003c0004t0006 a0004c0006t0002 a0004c0022t0002 a0006c0005t0008 a0010c0015t0002 a0017c0037t0025 a0022c0031t0002 a0024c0035t0002	a0001c0001t0002g0095 a0001c0001t0002g0097 a0001c0001t0002g0102 others(23): Show a0001c0001t0002g0095 a0001c0001t0002g0097 a0001c0001t0002g0102 a0001c0001t0002g0105 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0131 a0001c0001t0002g0135 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0161 a0001c0001t0012g0057 a0001c0001t0032g0144 a0003c0004t0004g0027 a0003c0004t0004g0038 a0003c0004t0006g0032 a0004c0006t0002g0035 a0004c0006t0002g0036 a0004c0022t0002g0034 a0006c0005t0008g0069 a0006c0005t0008g0162 a0010c0015t0002g0103 a0010c0015t0002g0108 a0017c0037t0025g0052 a0022c0031t0002g0091 a0024c0035t0002g0134	26	186	0.1398	12	c.56 others(23): Show c.5602_*5603insTTTTTTTTTTTT	BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding		1539		chr3	TogoVar
BSN_chr3_49549477_49676549	49673801	C C	CCTCACGC others(5): Show CCTCACGCTCACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02257.hp2 HG02258.hp2 others(6): Show HG02055.hp1 HG02257.hp2 HG02258.hp2 HG02451.hp1 HG02698.hp1 HG02723.hp1 HG03041.hp1 HG03471.hp2 NA19003.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0002 a0001c0001t0007 a0002c0002t0001 others(2): Show a0001c0001t0002 a0001c0001t0007 a0002c0002t0001 a0002c0002t0016 a0003c0003t0014	a0001c0001t0002g0102 a0001c0001t0002g0114 a0001c0001t0002g0135 others(6): Show a0001c0001t0002g0102 a0001c0001t0002g0114 a0001c0001t0002g0135 a0001c0001t0007g0006 a0001c0001t0007g0007 a0001c0001t0007g0043 a0002c0002t0001g0077 a0002c0002t0016g0040 a0003c0003t0014g0160	9	186	0.0484	12	c.63 others(23): Show c.6316_*6317insCTCACGCTCACG	BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding		2253		chr3	TogoVar
BSPH1_chr19_47963046_47997170	47969684	G G	GGAGAGAG others(5): Show GGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01167.hp1 HG01169.hp2 others(15): Show HG00642.hp2 HG01167.hp1 HG01169.hp2 HG01346.hp1 HG01433.hp1 HG01891.hp2 HG02145.hp1 HG02155.hp2 HG03098.hp1 HG03209.hp1 HG03579.hp2 HG03927.hp2 NA18906.hp2 NA18939.hp1 NA18956.hp2 NA18983.hp2 NA19085.hp1 NA19085.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0003c0004t0001	a0001c0001t0001g0152 a0001c0001t0001g0172 a0001c0001t0001g0197 others(15): Show a0001c0001t0001g0152 a0001c0001t0001g0172 a0001c0001t0001g0197 a0001c0001t0001g0248 a0001c0001t0001g0256 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0319 a0001c0001t0001g0357 a0001c0001t0001g0360 a0001c0001t0001g0361 a0001c0001t0001g0402 a0001c0001t0003g0324 a0002c0002t0001g0036 a0002c0002t0001g0054 a0003c0004t0001g0015 a0003c0004t0001g0016 a0003c0004t0001g0017	18	444	0.0405	12	c.3- others(27): Show c.3-1487_*3-1476dupTCTCTCTCTCTC	BSPH1	ENSG00000188334.3	transcript	ENST00000344839.3	protein_coding	5/5			chr19	TogoVar
BSPH1_chr19_47963046_47997170	47973218	A A	AAATAATA others(5): Show AAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0063 a0002c0002t0002g0063	1	444	0.0023	12	c.2+ others(27): Show c.2+3480_*2+3491dupATTATTATTATT	BSPH1	ENSG00000188334.3	transcript	ENST00000344839.3	protein_coding	5/5			chr19	TogoVar
BSPH1_chr19_47963046_47997170	47976518	C C	CATATTAA others(5): Show CATATTAAAAATT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00597.hp1 HG00735.hp2 others(28): Show HG00099.hp1 HG00597.hp1 HG00735.hp2 HG01081.hp1 HG01106.hp1 HG01257.hp2 HG01258.hp2 HG02055.hp1 HG02071.hp1 HG02080.hp1 HG02109.hp2 HG02572.hp2 HG03239.hp2 HG03704.hp1 NA18522.hp2 NA18941.hp1 NA18943.hp1 NA18946.hp2 NA18947.hp1 NA18956.hp1 NA18959.hp2 NA18974.hp2 NA18980.hp1 NA18999.hp2 NA19000.hp2 NA19010.hp2 NA19012.hp1 NA19060.hp1 NA19062.hp1 NA19074.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0118 a0001c0001t0001g0347 a0001c0001t0001g0348 others(28): Show a0001c0001t0001g0118 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0362 a0001c0001t0001g0367 a0001c0001t0001g0368 a0001c0001t0001g0372 a0001c0001t0001g0373 a0001c0001t0001g0374 a0001c0001t0001g0375 a0001c0001t0001g0383 a0001c0001t0001g0384 a0001c0001t0001g0385 a0001c0001t0001g0386 a0001c0001t0001g0392 a0001c0001t0001g0395 a0001c0001t0001g0398 a0001c0001t0001g0401 a0001c0001t0001g0405 a0001c0001t0002g0356 a0001c0001t0002g0369 a0001c0001t0002g0376 a0001c0001t0002g0377 a0001c0001t0002g0378 a0001c0001t0002g0379 a0001c0001t0002g0381 a0001c0001t0002g0390 a0001c0001t0002g0396	31	444	0.0698	12	c.2+ others(25): Show c.2+191_*2+192insAATTTTTAATAT	BSPH1	ENSG00000188334.3	transcript	ENST00000344839.3	protein_coding	5/5			chr19	TogoVar
BSPH1_chr19_47963046_47997170	47978001	G G	GATATATA others(5): Show GATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00738.hp2 HG01175.hp1 others(17): Show HG00099.hp1 HG00738.hp2 HG01175.hp1 HG01891.hp1 HG02293.hp1 HG02630.hp2 HG02976.hp1 HG03041.hp2 HG03471.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG03710.hp2 HG03927.hp1 HG03927.hp2 NA19043.hp2 NA19087.hp1 NA19090.hp2 NA20805.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0003t0001	a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0092 others(16): Show a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0092 a0001c0001t0001g0152 a0001c0001t0001g0253 a0001c0001t0001g0263 a0001c0001t0001g0289 a0001c0001t0001g0310 a0001c0001t0001g0362 a0001c0001t0001g0363 a0001c0001t0002g0009 a0001c0001t0002g0131 a0001c0001t0002g0216 a0001c0001t0002g0304 a0001c0001t0002g0330 a0001c0001t0002g0354 a0001c0001t0002g0389 a0002c0002t0001g0064 a0002c0003t0001g0409	20	444	0.0451	12	c.125 others(27): Show c.125-509_125-498dupATATATATATAT	BSPH1	ENSG00000188334.3	transcript	ENST00000344839.3	protein_coding	3/5			chr19	TogoVar
BSPH1_chr19_47963046_47997170	47978009	T T	TATATATA others(5): Show TATATATATATAG	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA20129.hp1 HG03225.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0258 a0001c0001t0001g0260	2	444	0.0045	12	c.125 others(27): Show c.125-506_125-505insCTATATATATAT	BSPH1	ENSG00000188334.3	transcript	ENST00000344839.3	protein_coding	3/5			chr19	TogoVar
BSPH1_chr19_47963046_47997170	47991195	G G	GCGCCGAC others(5): Show GCGCCGACCACAC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	444	0.0023	12	c.73+ others(25): Show c.73+802_73+813dupGTGTGGTCGGCG	BSPH1	ENSG00000188334.3	transcript	ENST00000344839.3	protein_coding	1/5			chr19	TogoVar
BSPRY_chr9_113344541_113376222	113352480	G G	GACACACA others(5): Show GACACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00741.hp1 others(33): Show HG00099.hp1 HG00323.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01081.hp2 HG01123.hp2 HG01175.hp1 HG01243.hp2 HG01261.hp1 HG01346.hp1 HG01361.hp1 HG01516.hp1 HG01517.hp1 HG02074.hp2 HG02145.hp1 HG02615.hp1 HG02630.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG03098.hp2 HG03239.hp2 HG03540.hp2 HG04199.hp1 HG06807.hp1 HG06807.hp2 NA18956.hp1 NA18962.hp2 NA18987.hp1 NA18999.hp1 NA19043.hp1 NA19063.hp2 NA19240.hp2 NA20300.hp2 NA20752.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0004c0009 a0006c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0011 a0001c0001t0020 a0001c0001t0032 a0001c0002t0002 a0001c0002t0003 a0001c0002t0026 a0001c0005t0001 a0001c0005t0002 a0001c0005t0017 a0002c0003t0001 a0002c0003t0002 a0002c0003t0006 a0002c0003t0007 a0002c0003t0029 a0004c0009t0001 a0006c0012t0004	a0001c0001t0001g0064 a0001c0001t0001g0315 a0001c0001t0001g0316 others(31): Show a0001c0001t0001g0064 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0318 a0001c0001t0002g0312 a0001c0001t0002g0314 a0001c0001t0004g0025 a0001c0001t0004g0062 a0001c0001t0004g0309 a0001c0001t0004g0310 a0001c0001t0005g0061 a0001c0001t0005g0308 a0001c0001t0009g0062 a0001c0001t0009g0305 a0001c0001t0009g0313 a0001c0001t0009g0317 a0001c0001t0011g0064 a0001c0001t0020g0311 a0001c0001t0032g0025 a0001c0002t0002g0189 a0001c0002t0002g0190 a0001c0002t0003g0275 a0001c0002t0026g0198 a0001c0005t0001g0193 a0001c0005t0002g0187 a0001c0005t0017g0188 a0002c0003t0001g0070 a0002c0003t0001g0071 a0002c0003t0002g0028 a0002c0003t0006g0307 a0002c0003t0007g0306 a0002c0003t0029g0028 a0004c0009t0001g0063 a0006c0012t0004g0063	36	448	0.0804	12	c.202 others(29): Show c.202-1748_202-1737dupCACACACACACA	BSPRY	ENSG00000119411.11	transcript	ENST00000374183.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
BSPRY_chr9_113344541_113376222	113362174	G G	GGTGGGTG others(5): Show GGTGGGTGGGTGT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0003 a0003c0008t0003	a0003c0008t0003g0260 a0003c0008t0003g0260	1	448	0.0022	12	c.532 others(27): Show c.532-192_532-191insGGTGGGTGTGTG	BSPRY	ENSG00000119411.11	transcript	ENST00000374183.5	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
BSPRY_chr9_113344541_113376222	113362174	G G	GGTGGGTG others(5): Show GGTGGGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp2 HG02040.hp2 others(21): Show HG00423.hp1 HG00609.hp2 HG02040.hp2 HG02132.hp1 NA18747.hp1 NA18941.hp1 NA18948.hp1 NA18951.hp2 NA18961.hp2 NA18964.hp2 NA18977.hp2 NA18982.hp1 NA18989.hp1 NA18990.hp1 NA18993.hp1 NA18999.hp1 NA19005.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp2 NA19067.hp2 NA19074.hp1 NA19081.hp2 NA19090.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0008 a0001c0002 a0003c0008	a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 others(3): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 a0001c0002t0016 a0003c0008t0016	a0001c0002t0002g0023 a0001c0002t0003g0023 a0001c0002t0003g0024 others(15): Show a0001c0002t0002g0023 a0001c0002t0003g0023 a0001c0002t0003g0024 a0001c0002t0003g0053 a0001c0002t0003g0054 a0001c0002t0003g0055 a0001c0002t0003g0251 a0001c0002t0003g0252 a0001c0002t0003g0254 a0001c0002t0003g0255 a0001c0002t0003g0262 a0001c0002t0003g0274 a0001c0002t0003g0275 a0001c0002t0005g0253 a0001c0002t0007g0250 a0001c0002t0007g0263 a0001c0002t0016g0264 a0003c0008t0016g0256	24	448	0.0536	12	c.532 others(27): Show c.532-192_532-191insGGTGTGTGTGTG	BSPRY	ENSG00000119411.11	transcript	ENST00000374183.5	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
BST1_chr4_15698065_15737787	15698713	G G	GTATATAT others(5): Show GTATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00621.hp2 HG01069.hp1 others(27): Show HG00558.hp2 HG00621.hp2 HG01069.hp1 HG01891.hp2 HG01928.hp2 HG01943.hp1 HG01975.hp2 HG02027.hp2 HG02129.hp1 HG02135.hp2 HG02165.hp2 HG03041.hp2 HG03130.hp2 HG03710.hp2 HG04115.hp1 NA18747.hp2 NA18941.hp2 NA18942.hp1 NA18954.hp1 NA18966.hp1 NA18978.hp2 NA18991.hp1 NA18991.hp2 NA19006.hp1 NA19009.hp1 NA19066.hp1 NA19078.hp1 NA19087.hp2 NA19091.hp2 NA19240.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0004 a0002c0002 others(4): Show a0001c0001 a0001c0004 a0002c0002 a0002c0007 a0003c0003 a0003c0009 a0005c0006	a0001c0001t0001 a0001c0004t0001 a0001c0004t0002 others(5): Show a0001c0001t0001 a0001c0004t0001 a0001c0004t0002 a0002c0002t0001 a0002c0007t0001 a0003c0003t0002 a0003c0009t0001 a0005c0006t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0010 others(26): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0043 a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0154 a0001c0001t0001g0162 a0001c0001t0001g0207 a0001c0001t0001g0283 a0001c0004t0001g0048 a0001c0004t0002g0146 a0002c0002t0001g0001 a0002c0002t0001g0188 a0002c0007t0001g0195 a0003c0003t0002g0023 a0003c0003t0002g0059 a0003c0003t0002g0064 a0003c0003t0002g0074 a0003c0003t0002g0076 a0003c0003t0002g0078 a0003c0003t0002g0093 a0003c0003t0002g0096 a0003c0009t0001g0068 a0005c0006t0001g0199 a0005c0006t0001g0200 a0005c0006t0001g0240	30	442	0.0679	12	c.-44 others(23): Show c.-4432_-4431insTATATATATATA	BST1	ENSG00000109743.11	transcript	ENST00000265016.9	protein_coding		4351		chr4	TogoVar
BST1_chr4_15698065_15737787	15707834	A A	ACTCTCTC others(5): Show ACTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02109.hp1 HG02572.hp2 others(3): Show HG02040.hp1 HG02109.hp1 HG02572.hp2 HG02922.hp1 HG04204.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0216 a0001c0001t0001g0317 others(3): Show a0001c0001t0001g0205 a0001c0001t0001g0216 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0335	6	442	0.0136	12	c.451 others(27): Show c.451+199_451+210dupCTCTCTCTCTCT	BST1	ENSG00000109743.11	transcript	ENST00000265016.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
BST1_chr4_15698065_15737787	15707855	C C	CTCTCTAT others(5): Show CTCTCTATATATA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	442	0.0023	12	c.451 others(27): Show c.451+210_451+211insCTCTATATATAT	BST1	ENSG00000109743.11	transcript	ENST00000265016.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
BST1_chr4_15698065_15737787	15707855	C C	CTCTCTCT others(5): Show CTCTCTCTATATA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0203 a0006c0008t0001g0203	1	442	0.0023	12	c.451 others(27): Show c.451+210_451+211insCTCTCTATATAT	BST1	ENSG00000109743.11	transcript	ENST00000265016.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
BST1_chr4_15698065_15737787	15707855	C C	CTCTCTCT others(5): Show CTCTCTCTCTATA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA20300.hp1 NA18906.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0340 a0001c0001t0001g0275 a0001c0001t0001g0340	2	442	0.0045	12	c.451 others(27): Show c.451+210_451+211insCTCTCTCTATAT	BST1	ENSG00000109743.11	transcript	ENST00000265016.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
BST1_chr4_15698065_15737787	15707855	C C	CTCTCTCT others(5): Show CTCTCTCTCTCTA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0276 a0001c0001t0001g0276	1	442	0.0023	12	c.451 others(27): Show c.451+210_451+211insCTCTCTCTCTAT	BST1	ENSG00000109743.11	transcript	ENST00000265016.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
BST2_chr19_17397939_17410630	17410497	C C	CATATATA others(5): Show CATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00544.hp1 HG00738.hp2 others(43): Show HG00140.hp2 HG00544.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01192.hp2 HG01358.hp2 HG01361.hp1 HG01891.hp1 HG01943.hp1 HG02004.hp2 HG02027.hp2 HG02129.hp1 HG02129.hp2 HG02258.hp1 HG02451.hp2 HG02572.hp2 HG03139.hp1 HG03471.hp2 HG03654.hp1 HG03704.hp1 HG03927.hp1 HG03942.hp2 NA18906.hp1 NA18951.hp2 NA18952.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18970.hp1 NA18980.hp2 NA18993.hp1 NA18999.hp2 NA19005.hp2 NA19054.hp1 NA19060.hp1 NA19063.hp1 NA19074.hp2 NA19078.hp2 NA19091.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0012	a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0002g0002 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0002g0002 a0001c0001t0003g0009 a0001c0001t0011g0019 a0001c0001t0012g0033	46	412	0.1117	12	c.-49 others(23): Show c.-4934_-4923dupATATATATATAT	BST2	ENSG00000130303.14	transcript	ENST00000252593.7	protein_coding		4868		chr19	TogoVar
BST2_chr19_17397939_17410630	17410529	T T	TATATATA others(5): Show TATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01255.hp2 HG01257.hp2 others(11): Show HG01081.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG03710.hp2 NA18943.hp2 NA18945.hp1 NA18968.hp1 NA18979.hp1 NA19067.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0004 a0003c0007 a0001c0001 a0002c0004 a0003c0007	a0001c0001t0001 a0002c0004t0002 a0003c0007t0015 a0001c0001t0001 a0002c0004t0002 a0003c0007t0015	a0001c0001t0001g0001 a0002c0004t0002g0023 a0003c0007t0015g0032 a0001c0001t0001g0001 a0002c0004t0002g0023 a0003c0007t0015g0032	14	412	0.0340	12	c.-49 others(23): Show c.-4955_-4954insGTATATATATAT	BST2	ENSG00000130303.14	transcript	ENST00000252593.7	protein_coding		4900		chr19	TogoVar
BST2_chr19_17397939_17410630	17410539	C C	CACACACA others(5): Show CACACACACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02922.hp1 HG02258.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	412	0.0049	12	c.-49 others(23): Show c.-4965_-4964insATATGTGTGTGT	BST2	ENSG00000130303.14	transcript	ENST00000252593.7	protein_coding		4910		chr19	TogoVar
BST2_chr19_17397939_17410630	17410541	T T	TATATATA others(5): Show TATATATACATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 NA18522.hp2 HG02976.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0010 a0001c0002t0006g0010	2	412	0.0049	12	c.-49 others(23): Show c.-4967_-4966insGTATGTATATAT	BST2	ENSG00000130303.14	transcript	ENST00000252593.7	protein_coding		4912		chr19	TogoVar
BSX_chr11_122972570_122986834	122975154	T T	TACACACA others(5): Show TACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00438.hp1 others(20): Show HG00099.hp2 HG00140.hp1 HG00438.hp1 HG00741.hp1 HG01081.hp1 HG01167.hp2 HG01358.hp1 HG02071.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG03486.hp1 HG03669.hp1 HG03704.hp2 HG04115.hp2 NA18957.hp2 NA18962.hp1 NA18975.hp1 NA18987.hp2 NA18997.hp1 NA18998.hp1 NA19001.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0049 a0001c0001t0001g0062 a0001c0001t0001g0067 a0001c0001t0001g0075	23	422	0.0545	12	c.24 others(23): Show c.2494_*2495insGTGTGTGTGTGT	BSX	ENSG00000188909.5	transcript	ENST00000343035.3	protein_coding		2415		chr11	TogoVar
BSX_chr11_122972570_122986834	122983410	A A	AAAAGAAA others(5): Show AAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 NA18964.hp1 NA18968.hp1 others(3): Show HG00609.hp1 NA18964.hp1 NA18968.hp1 NA18970.hp2 NA19001.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	6	422	0.0142	12	c.-17 others(23): Show c.-1740_-1739insCTTTCTTTCTTT	BSX	ENSG00000188909.5	transcript	ENST00000343035.3	protein_coding		1577		chr11	TogoVar
BTAF1_chr10_91918770_92036437	91925516	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp2 HG01257.hp2 others(9): Show HG00642.hp1 HG00735.hp2 HG01257.hp2 HG01433.hp2 HG01515.hp1 HG01516.hp1 HG01891.hp1 HG02055.hp1 HG04228.hp1 NA18978.hp2 NA19086.hp2 NA21309.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0009 a0001c0001 a0008c0009	a0001c0001t0002 a0001c0001t0004 a0008c0009t0002 a0001c0001t0002 a0001c0001t0004 a0008c0009t0002	a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 others(9): Show a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0305 a0001c0001t0004g0324 a0008c0009t0002g0304	12	330	0.0364	12	c.14+ others(27): Show c.14+1428_14+1439dupTTTTTTTTTTTT	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr10	TogoVar
BTAF1_chr10_91918770_92036437	91991279	T T	TATATATA others(5): Show TATATATATAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0325 a0001c0001t0002g0325	1	330	0.0030	12	c.285 others(29): Show c.2855-831_2855-830insAAAATATATATA	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	20/37		INFO_REALIGN_3_PRIME	chr10	TogoVar
BTAF1_chr10_91918770_92036437	91991832	T T	TATATATA others(5): Show TATATATATATAC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0147 a0001c0001t0005g0147	1	330	0.0030	12	c.285 others(29): Show c.2855-286_2855-285insTATATATATACA	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	20/37		INFO_REALIGN_3_PRIME	chr10	TogoVar
BTAF1_chr10_91918770_92036437	92032009	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00733.hp1 HG00733.hp2 others(32): Show HG00544.hp1 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG01175.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01515.hp2 HG01517.hp2 HG01952.hp1 HG01978.hp2 HG02004.hp2 HG02015.hp1 HG02074.hp1 HG02129.hp1 HG02135.hp1 HG02300.hp1 HG02896.hp2 HG02965.hp1 HG03831.hp1 HG03927.hp2 HG04115.hp1 HG04199.hp1 HG04228.hp2 HG06807.hp2 NA18939.hp2 NA18964.hp2 NA18969.hp1 NA18970.hp2 NA18987.hp1 NA19058.hp2 NA19064.hp2 NA19085.hp1 NA20905.hp2	a0001 a0005 a0013 a0001 a0005 a0013	a0001c0001 a0001c0018 a0005c0016 others(1): Show a0001c0001 a0001c0018 a0005c0016 a0013c0011	a0001c0001t0001 a0001c0018t0001 a0005c0016t0001 others(1): Show a0001c0001t0001 a0001c0018t0001 a0005c0016t0001 a0013c0011t0001	a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 others(32): Show a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0049 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0120 a0001c0001t0001g0159 a0001c0018t0001g0121 a0005c0016t0001g0117 a0013c0011t0001g0051	35	330	0.1061	12	c.30 others(23): Show c.3076_*3077insTTTTTTTTTTTT	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding		573		chr10	TogoVar
BTBD10_chr11_13383008_13468222	13430974	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00323.hp2 others(64): Show HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00673.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01433.hp1 HG01496.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG02074.hp2 HG02148.hp1 HG02293.hp1 HG02293.hp2 HG02559.hp1 HG02647.hp1 HG03017.hp1 HG03098.hp1 HG03225.hp1 HG03239.hp1 HG03491.hp2 NA18946.hp1 NA18947.hp2 NA18951.hp1 NA18955.hp1 NA18957.hp2 NA18961.hp2 NA18962.hp2 NA18964.hp2 NA18966.hp1 NA18968.hp2 NA18972.hp1 NA18973.hp2 NA18974.hp1 NA18981.hp1 NA18985.hp2 NA18988.hp1 NA18993.hp1 NA18994.hp2 NA18999.hp1 NA19002.hp1 NA19003.hp1 NA19005.hp2 NA19007.hp2 NA19057.hp1 NA19059.hp2 NA19066.hp2 NA19068.hp1 NA19074.hp1 NA19075.hp2 NA19078.hp1 NA19084.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0002t0002 a0001c0005t0002 a0001c0001t0001 a0001c0002t0002 a0001c0005t0002	a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0115 others(47): Show a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0115 a0001c0001t0001g0123 a0001c0001t0001g0219 a0001c0001t0001g0238 a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0026 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0243 a0001c0002t0002g0244 a0001c0002t0002g0245 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0248 a0001c0002t0002g0249 a0001c0002t0002g0250 a0001c0002t0002g0253 a0001c0002t0002g0257 a0001c0002t0002g0258 a0001c0002t0002g0259 a0001c0002t0002g0260 a0001c0002t0002g0261 a0001c0002t0002g0263 a0001c0002t0002g0264 a0001c0002t0002g0265 a0001c0002t0002g0267 a0001c0002t0002g0268 a0001c0002t0002g0269 a0001c0002t0002g0270 a0001c0002t0002g0271 a0001c0002t0002g0272 a0001c0002t0002g0273 a0001c0002t0002g0274 a0001c0002t0002g0275 a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0002g0279 a0001c0002t0002g0280 a0001c0002t0002g0281 a0001c0002t0002g0282 a0001c0002t0002g0283 a0001c0002t0002g0284 a0001c0002t0002g0285 a0001c0002t0002g0286 a0001c0005t0002g0251 a0001c0005t0002g0252	67	356	0.1882	12	c.102 others(29): Show c.102-9148_102-9137dupGTGTGTGTGTGT	BTBD10	ENSG00000148925.11	transcript	ENST00000278174.10	protein_coding	2/8			chr11	TogoVar

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