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
B4GALT5_chr20_49627945_49718878	49636907	G G	GACACACA others(19): Show GACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0205 a0001c0002t0001g0205	1	125	0.0080	26	c.101 others(43): Show c.1019+408_1019+433dupGTGTGTGTGTGTGTGTGTGTGTGTGT	B4GALT5	ENSG00000158470.5	transcript	ENST00000371711.4	protein_coding	8/8			chr20	TogoVar
BABAM2_chr2_27885729_28343901	28026897	A A	AATATATA others(19): Show AATATATATATATTAATATATATAAAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0131 a0001c0001t0002g0131	1	135	0.0074	26	c.495 others(43): Show c.495+1486_495+1487insTATTAATATATATAAATATATATATA	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28112151	C C	CTTTCTTT others(19): Show CTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01433.hp2 HG01346.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0097 a0001c0001t0001g0060 a0001c0001t0001g0097	2	86	0.0233	26	c.571 others(45): Show c.571-17119_571-17118insTTCTTTCTTTCTTTCTTTCTTTCTTT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28196321	C C	CGTCTCAA others(19): Show CGTCTCAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0135 a0001c0001t0003g0135	1	139	0.0072	26	c.681 others(45): Show c.681-40881_681-40880insGTCTCAAAAAAAAAAAAAAAAAAAAA	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	7/11			chr2	TogoVar
BACH2_chr6_89921528_90301843	90092291	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0088 a0001c0001t0007g0088	1	100	0.0100	26	c.-16 others(45): Show c.-161-3183_-161-3182insATATATATATATTTTTTTTTTTTTTT	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8			chr6	TogoVar
BACH2_chr6_89921528_90301843	90092291	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0128 a0001c0003t0009g0128	1	100	0.0100	26	c.-16 others(45): Show c.-161-3183_-161-3182insATATATATATATATTTTTTTTTTTTT	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8			chr6	TogoVar
BACH2_chr6_89921528_90301843	90100702	G G	GACACACA others(19): Show GACACACACATACACACACACACAGAC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02698.hp1 HG03471.hp1 others(2): Show HG00738.hp2 HG02698.hp1 HG03471.hp1 HG03831.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0067 a0001c0001t0084 others(2): Show a0001c0001t0003 a0001c0001t0067 a0001c0001t0084 a0001c0002t0083 a0001c0002t0091	a0001c0001t0003g0029 a0001c0001t0067g0042 a0001c0001t0084g0021 others(2): Show a0001c0001t0003g0029 a0001c0001t0067g0042 a0001c0001t0084g0021 a0001c0002t0083g0154 a0001c0002t0091g0028	5	188	0.0266	26	c.-16 others(47): Show c.-161-11594_-161-11593insGTCTGTGTGTGTGTGTATGTGTGT GT	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8			chr6	TogoVar
BACH2_chr6_89921528_90301843	90100728	G G	GACACACA others(19): Show GACACACACACACACACACACACAGAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02109.hp1 HG03139.hp2 HG02055.hp1 HG02109.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0070 a0001c0001t0136 a0001c0006t0031 a0001c0001t0070 a0001c0001t0136 a0001c0006t0031	a0001c0001t0070g0147 a0001c0001t0136g0192 a0001c0006t0031g0004 a0001c0001t0070g0147 a0001c0001t0136g0192 a0001c0006t0031g0004	3	69	0.0435	26	c.-16 others(47): Show c.-161-11620_-161-11619insGTCTGTGTGTGTGTGTGTGTGTGT GT	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8			chr6	TogoVar
BACH2_chr6_89921528_90301843	90103029	A A	ATATATAT others(19): Show ATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0066 a0001c0004t0066	a0001c0004t0066g0027 a0001c0004t0066g0027	1	53	0.0189	26	c.-16 others(47): Show c.-161-13921_-161-13920insAAAATATATATATATATATATATA TA	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8			chr6	TogoVar
BACH2_chr6_89921528_90301843	90103029	A A	ATATATAT others(19): Show ATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0161 a0001c0006t0002g0161	1	53	0.0189	26	c.-16 others(47): Show c.-161-13921_-161-13920insAAAAAATATATATATATATATATA TA	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8			chr6	TogoVar
BACH2_chr6_89921528_90301843	90103029	A A	ATATATAT others(19): Show ATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0057 a0001c0002t0057	a0001c0002t0057g0023 a0001c0002t0057g0023	1	53	0.0189	26	c.-16 others(47): Show c.-161-13921_-161-13920insAAAAAAAAAATATATATATATATA TA	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8			chr6	TogoVar
BAG6_chr6_31634028_31657661	31643721	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0235 a0001c0007t0001g0235	1	45	0.0222	26	c.175 others(43): Show c.1756+168_1756+169insTTTTTTTTTTTTTTTTTTTTTTTTTT	BAG6	ENSG00000204463.14	transcript	ENST00000676615.2	protein_coding	14/25			chr6	TogoVar
BAHCC1_chr17_81390457_81471331	81418804	T T	TGTGTGTG others(19): Show TGTGTGTGCGCGCATGTGTGTGTGTAC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0033 a0002c0010t0033	a0002c0010t0033g0135 a0002c0010t0033g0135	1	327	0.0031	26	c.179 others(43): Show c.179-7992_179-7991insGTGCGCGCATGTGTGTGTGTACGTGT	BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAHCC1_chr17_81390457_81471331	81418810	C C	CGCGCATG others(19): Show CGCGCATGTGTGTGTGTACGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	42	0.0238	26	c.179 others(43): Show c.179-7989_179-7988insCGCATGTGTGTGTGTACGTGTGTGTG	BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAHCC1_chr17_81390457_81471331	81418810	C C	CGCGCATG others(19): Show CGCGCATGTGTGTGTGTGTACGTGTGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00408.hp1 others(145): Show HG00140.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00609.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00741.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01261.hp1 HG01346.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02300.hp2 HG02486.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02698.hp1 HG02735.hp2 HG02738.hp1 HG02886.hp2 HG02895.hp1 HG03017.hp2 HG03139.hp1 HG03239.hp1 HG03491.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04204.hp1 HG04228.hp1 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18962.hp1 NA18963.hp2 NA18966.hp2 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19060.hp2 NA19066.hp1 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(25): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0011 a0015 a0016 a0018 a0023 a0024 a0025 a0028 a0029 a0030 a0033 a0039 a0041 a0044 a0047 a0050 a0051 a0052 a0054 a0055	a0001c0001 a0001c0016 a0001c0051 others(45): Show a0001c0001 a0001c0016 a0001c0051 a0001c0055 a0001c0056 a0001c0080 a0002c0003 a0002c0008 a0002c0009 a0002c0025 a0002c0032 a0002c0067 a0002c0084 a0002c0091 a0002c0099 a0003c0002 a0004c0004 a0004c0011 a0005c0005 a0005c0028 a0005c0064 a0005c0065 a0005c0095 a0006c0006 a0008c0013 a0008c0086 a0009c0024 a0009c0072 a0011c0017 a0015c0015 a0016c0106 a0018c0105 a0023c0078 a0024c0082 a0025c0066 a0028c0044 a0029c0076 a0030c0048 a0033c0088 a0039c0087 a0041c0107 a0044c0081 a0047c0077 a0050c0059 a0051c0100 a0052c0074 a0054c0049 a0055c0060	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(54): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0018 a0001c0016t0001 a0001c0051t0001 a0001c0055t0001 a0001c0056t0003 a0001c0080t0001 a0002c0003t0003 a0002c0008t0006 a0002c0009t0001 a0002c0009t0004 a0002c0025t0003 a0002c0032t0003 a0002c0067t0008 a0002c0084t0001 a0002c0091t0004 a0002c0099t0003 a0003c0002t0001 a0003c0002t0004 a0003c0002t0013 a0003c0002t0028 a0003c0002t0035 a0004c0004t0002 a0004c0011t0002 a0005c0005t0008 a0005c0028t0001 a0005c0064t0005 a0005c0065t0034 a0005c0095t0005 a0006c0006t0001 a0008c0013t0006 a0008c0086t0002 a0009c0024t0001 a0009c0072t0002 a0011c0017t0001 a0015c0015t0001 a0016c0106t0010 a0018c0105t0001 a0023c0078t0003 a0024c0082t0001 a0025c0066t0001 a0028c0044t0001 a0029c0076t0001 a0030c0048t0003 a0033c0088t0001 a0039c0087t0004 a0041c0107t0002 a0044c0081t0001 a0047c0077t0005 a0050c0059t0032 a0051c0100t0001 a0052c0074t0001 a0054c0049t0001 a0055c0060t0003	a0001c0001t0001g0004 a0001c0001t0001g0028 a0001c0001t0001g0030 others(143): Show a0001c0001t0001g0004 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0108 a0001c0001t0001g0131 a0001c0001t0001g0136 a0001c0001t0001g0142 a0001c0001t0001g0157 a0001c0001t0001g0169 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0187 a0001c0001t0001g0203 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0292 a0001c0001t0002g0084 a0001c0001t0002g0141 a0001c0001t0005g0064 a0001c0001t0007g0090 a0001c0001t0018g0040 a0001c0016t0001g0052 a0001c0016t0001g0181 a0001c0016t0001g0316 a0001c0051t0001g0045 a0001c0055t0001g0038 a0001c0056t0003g0284 a0001c0080t0001g0043 a0002c0003t0003g0044 a0002c0003t0003g0046 a0002c0003t0003g0047 a0002c0003t0003g0048 a0002c0003t0003g0059 a0002c0003t0003g0067 a0002c0003t0003g0068 a0002c0003t0003g0080 a0002c0003t0003g0184 a0002c0003t0003g0186 a0002c0003t0003g0208 a0002c0003t0003g0230 a0002c0003t0003g0231 a0002c0003t0003g0233 a0002c0003t0003g0259 a0002c0003t0003g0293 a0002c0003t0003g0300 a0002c0003t0003g0304 a0002c0008t0006g0134 a0002c0009t0001g0079 a0002c0009t0001g0255 a0002c0009t0004g0121 a0002c0009t0004g0301 a0002c0025t0003g0065 a0002c0025t0003g0212 a0002c0032t0003g0232 a0002c0067t0008g0069 a0002c0084t0001g0070 a0002c0091t0004g0227 a0002c0099t0003g0051 a0003c0002t0001g0002 a0003c0002t0001g0039 a0003c0002t0001g0049 a0003c0002t0001g0056 a0003c0002t0001g0057 a0003c0002t0001g0062 a0003c0002t0001g0074 a0003c0002t0001g0095 a0003c0002t0001g0096 a0003c0002t0001g0097 a0003c0002t0001g0098 a0003c0002t0001g0100 a0003c0002t0001g0101 a0003c0002t0001g0103 a0003c0002t0001g0104 a0003c0002t0001g0105 a0003c0002t0001g0106 a0003c0002t0001g0107 a0003c0002t0001g0111 a0003c0002t0001g0183 a0003c0002t0001g0209 a0003c0002t0004g0115 a0003c0002t0004g0172 a0003c0002t0004g0194 a0003c0002t0004g0229 a0003c0002t0004g0280 a0003c0002t0004g0295 a0003c0002t0013g0168 a0003c0002t0013g0173 a0003c0002t0028g0298 a0003c0002t0035g0197 a0004c0004t0002g0061 a0004c0004t0002g0158 a0004c0004t0002g0167 a0004c0004t0002g0240 a0004c0004t0002g0241 a0004c0011t0002g0120 a0005c0005t0008g0085 a0005c0005t0008g0087 a0005c0005t0008g0188 a0005c0005t0008g0296 a0005c0005t0008g0297 a0005c0028t0001g0226 a0005c0064t0005g0178 a0005c0065t0034g0313 a0005c0095t0005g0199 a0006c0006t0001g0009 a0008c0013t0006g0072 a0008c0086t0002g0091 a0009c0024t0001g0175 a0009c0072t0002g0193 a0011c0017t0001g0180 a0011c0017t0001g0228 a0011c0017t0001g0299 a0015c0015t0001g0119 a0015c0015t0001g0166 a0016c0106t0010g0328 a0018c0105t0001g0250 a0023c0078t0003g0192 a0024c0082t0001g0099 a0025c0066t0001g0305 a0028c0044t0001g0249 a0029c0076t0001g0094 a0030c0048t0003g0076 a0033c0088t0001g0261 a0039c0087t0004g0165 a0041c0107t0002g0251 a0044c0081t0001g0236 a0047c0077t0005g0063 a0050c0059t0032g0125 a0051c0100t0001g0237 a0052c0074t0001g0082 a0054c0049t0001g0102 a0055c0060t0003g0189	148	189	0.7831	26	c.179 others(43): Show c.179-7989_179-7988insCGCATGTGTGTGTGTGTACGTGTGTG	BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAIAP2L1_chr7_98286650_98406090	98357020	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0109 a0001c0007t0003g0109	1	158	0.0063	26	c.128 others(43): Show c.128-1893_128-1892insATATTTTTTTTTTTTTTTTTTTTTTT	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	2/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98357020	A A	AAAAAAAA others(19): Show AAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0283 a0001c0002t0001g0283	1	158	0.0063	26	c.128 others(43): Show c.128-1893_128-1892insATATATATATATATATTTTTTTTTTT	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	2/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98357020	A A	AAAAAAAA others(19): Show AAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01099.hp2 HG02818.hp2 HG00544.hp2 HG01099.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0001 a0001c0008t0002 a0001c0002t0001 a0001c0008t0002	a0001c0002t0001g0268 a0001c0002t0001g0278 a0001c0008t0002g0197 a0001c0002t0001g0268 a0001c0002t0001g0278 a0001c0008t0002g0197	3	160	0.0188	26	c.128 others(43): Show c.128-1893_128-1892insATATATATATATATATATTTTTTTTT	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	2/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98357020	A A	AAAAAAAA others(19): Show AAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA19007.hp1 NA20300.hp1 HG03453.hp1 NA19007.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0021 a0001c0002t0001g0228 a0001c0002t0001g0233 a0001c0001t0002g0021 a0001c0002t0001g0228 a0001c0002t0001g0233	3	160	0.0188	26	c.128 others(43): Show c.128-1893_128-1892insATATATATATATATATATATTTTTTT	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	2/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98357020	A A	AAAAAATA others(19): Show AAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 NA18964.hp2 HG01074.hp1 NA18964.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0237 a0001c0002t0001g0289 a0001c0002t0001g0237 a0001c0002t0001g0289	2	159	0.0126	26	c.128 others(43): Show c.128-1893_128-1892insATATATATATATATATATATATTTTT	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	2/13			chr7	TogoVar
BAIAP2_chr17_81030151_81122434	81055569	G G	GGTTTTTT others(19): Show GGTTTTTTTTTTGTTGTTTTTTTTTGT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0309 a0002c0002t0002g0309	1	257	0.0039	26	c.130 others(43): Show c.130+1826_130+1827insGTTTTTTTTTTGTTGTTTTTTTTTGT	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	2/13			chr17	TogoVar
BAIAP2_chr17_81030151_81122434	81055569	G G	GGTTTTTT others(19): Show GGTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01106.hp1 HG01952.hp2 others(11): Show HG00673.hp2 HG01106.hp1 HG01952.hp2 HG01981.hp1 HG02523.hp1 HG03704.hp1 HG04228.hp2 NA18970.hp1 NA18977.hp1 NA18998.hp1 NA19004.hp1 NA19057.hp1 NA19063.hp1 NA19066.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0001t0038 a0002c0002t0002	a0001c0001t0001g0106 a0001c0001t0004g0041 a0001c0001t0004g0067 others(11): Show a0001c0001t0001g0106 a0001c0001t0004g0041 a0001c0001t0004g0067 a0001c0001t0004g0093 a0001c0001t0004g0095 a0001c0001t0004g0096 a0001c0001t0004g0127 a0001c0001t0009g0054 a0001c0001t0038g0068 a0002c0002t0002g0122 a0002c0002t0002g0126 a0002c0002t0002g0128 a0002c0002t0002g0129 a0002c0002t0002g0130	14	270	0.0519	26	c.130 others(43): Show c.130+1826_130+1827insGTTTTTTTTTTTTTTTTTTTTTTTTT	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	2/13			chr17	TogoVar
BAIAP2_chr17_81030151_81122434	81055569	G G	GTTTTTTT others(19): Show GTTTTTTTTTTTGTTGTTTTTTTTTGT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03540.hp2 HG03710.hp1 others(1): Show HG02738.hp1 HG03540.hp2 HG03710.hp1 HG03927.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0002c0002t0002	a0001c0001t0001g0308 a0001c0001t0003g0350 a0001c0003t0001g0254 others(1): Show a0001c0001t0001g0308 a0001c0001t0003g0350 a0001c0003t0001g0254 a0002c0002t0002g0310	4	260	0.0154	26	c.130 others(43): Show c.130+1830_130+1831insTTTTTTTGTTGTTTTTTTTTGTTTTT	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAIAP2_chr17_81030151_81122434	81119240	A A	AGGAGCGG others(19): Show AGGAGCGGGGCCGGGAAGGAGCGGAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0033 a0002c0002t0002g0033	1	374	0.0027	26	c.34 others(37): Show c.3401_*3402insGGAGCGGGGCCGGGAAGGAGCGGAGC	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding		1807		chr17	TogoVar
BAMBI_chr10_28672521_28687932	28683987	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00544.hp1 HG01168.hp2 others(9): Show HG00280.hp2 HG00544.hp1 HG01168.hp2 HG01361.hp2 HG02071.hp2 HG02486.hp2 HG02615.hp2 HG03491.hp1 NA19062.hp2 NA19085.hp1 NA20805.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0003g0004 a0001c0001t0003g0005 others(3): Show a0001c0001t0001g0001 a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0010 a0001c0001t0003g0042 a0001c0001t0003g0051	12	143	0.0839	26	c.15 others(37): Show c.1586_*1587insAAAAAAAAAAAAAAAAAAAAAAAAAA	BAMBI	ENSG00000095739.11	transcript	ENST00000375533.6	protein_coding		1056		chr10	TogoVar
BANK1_chr4_101785730_102079812	101947309	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00733.hp2 HG01952.hp2 others(16): Show HG00544.hp2 HG00733.hp2 HG01952.hp2 HG02027.hp1 HG02055.hp2 HG02523.hp1 HG02723.hp2 HG02809.hp1 HG03041.hp2 HG03471.hp1 HG03490.hp1 NA18949.hp2 NA18953.hp1 NA18974.hp1 NA19005.hp1 NA19010.hp2 NA19081.hp1 NA19086.hp2 NA20805.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0017 others(1): Show a0001c0001 a0001c0002 a0001c0017 a0005c0006	a0001c0001t0001 a0001c0001t0003 a0001c0002t0003 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0003 a0001c0017t0003 a0005c0006t0001	a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0025 others(16): Show a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0089 a0001c0001t0001g0146 a0001c0001t0001g0159 a0001c0001t0003g0070 a0001c0002t0003g0054 a0001c0002t0003g0233 a0001c0002t0003g0268 a0001c0017t0003g0118 a0005c0006t0001g0007 a0005c0006t0001g0270	19	195	0.0974	26	c.120 others(47): Show c.1206+29123_1206+29124insATATATATATATATATATATATGT AT	BANK1	ENSG00000153064.12	transcript	ENST00000322953.9	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr4	TogoVar
BANK1_chr4_101785730_102079812	101947309	A A	ATATATAT others(19): Show ATATATATATATATATATATATGTATG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	177	0.0056	26	c.120 others(47): Show c.1206+29123_1206+29124insATATATATATATATATATGTATGT AT	BANK1	ENSG00000153064.12	transcript	ENST00000322953.9	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr4	TogoVar
BANK1_chr4_101785730_102079812	102007144	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02056.hp1 HG02132.hp1 others(1): Show HG01934.hp2 HG02056.hp1 HG02132.hp1 NA18942.hp2	a0003 a0004 a0003 a0004	a0003c0004 a0004c0005 a0003c0004 a0004c0005	a0003c0004t0001 a0003c0004t0003 a0004c0005t0001 a0003c0004t0001 a0003c0004t0003 a0004c0005t0001	a0003c0004t0001g0013 a0003c0004t0003g0256 a0004c0005t0001g0080 others(1): Show a0003c0004t0001g0013 a0003c0004t0003g0256 a0004c0005t0001g0080 a0004c0005t0001g0155	4	150	0.0267	26	c.120 others(47): Show c.1207-14369_1207-14368insATATATATATATATATATATATAT AT	BANK1	ENSG00000153064.12	transcript	ENST00000322953.9	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr4	TogoVar
BANP_chr16_87946434_88082316	88052433	T T	TGAAGACA others(19): Show TGAAGACAGTAGACAGGAGCTTTTCTA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0012 a0001c0002t0002g0012	1	350	0.0029	26	c.131 others(47): Show c.1312-12832_1312-12807dupAAGACAGTAGACAGGAGCTTTTCT AG	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
BANP_chr16_87946434_88082316	88059059	T T	TGGTCCGT others(19): Show TGGTCCGTGCTCCTGCTGGTGTGCTGA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	319	0.0031	26	c.131 others(45): Show c.1312-6130_1312-6105dupAGGTCCGTGCTCCTGCTGGTGTGCTG	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
BARHL2_chr1_90706539_90722302	90719504	G G	GAAAAAAA others(19): Show GAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG00741.hp1 HG02523.hp1 others(4): Show HG00609.hp2 HG00741.hp1 HG02523.hp1 HG03041.hp2 NA19030.hp1 NA19030.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0018 others(3): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0002g0059 a0001c0001t0002g0092	7	21	0.3333	26	c.-23 others(37): Show c.-2310_-2309insTTTTTTTTTTTTTTTTTTTTTTTTTT	BARHL2	ENSG00000143032.8	transcript	ENST00000370445.5	protein_coding		2203		chr1	TogoVar
BASP1_chr5_17212631_17281834	17217071	T T	TGTGAGAG others(19): Show TGTGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01496.hp1 HG01496.hp2 others(8): Show HG01099.hp2 HG01496.hp1 HG01496.hp2 HG01978.hp1 HG02300.hp1 HG02738.hp2 NA18944.hp1 NA18955.hp1 NA19067.hp2 NA19072.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0011 a0001c0001t0029 others(2): Show a0001c0001t0005 a0001c0001t0011 a0001c0001t0029 a0001c0001t0054 a0001c0001t0055	a0001c0001t0005g0020 a0001c0001t0005g0314 a0001c0001t0005g0316 others(7): Show a0001c0001t0005g0020 a0001c0001t0005g0314 a0001c0001t0005g0316 a0001c0001t0005g0317 a0001c0001t0011g0321 a0001c0001t0011g0323 a0001c0001t0029g0001 a0001c0001t0029g0318 a0001c0001t0054g0315 a0001c0001t0055g0335	11	273	0.0403	26	c.-74 others(35): Show c.-749_-748insGTGAGAGAGAGAGAGAGAGAGAGAGA	BASP1	ENSG00000176788.9	transcript	ENST00000322611.4	protein_coding		559		chr5	TogoVar
BATF2_chr11_64982945_65001971	65000934	C C	CTCTCTTT others(19): Show CTCTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	184	0.0054	26	c.-40 others(37): Show c.-4021_-4020insAAGAAAGAAAGAAAGAAAGAAAGAGA	BATF2	ENSG00000168062.10	transcript	ENST00000301887.9	protein_coding		3964		chr11	TogoVar
BATF3_chr1_212681417_212704840	212681420	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 NA19058.hp2 HG02040.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0003 a0001c0001t0001g0011	2	73	0.0274	26	c.53 others(37): Show c.5370_*5371insAAAAAAAAAAAAAAAAAAAAAAAAAA	BATF3	ENSG00000123685.9	transcript	ENST00000243440.2	protein_coding		4996		chr1	TogoVar
BAZ1A_chr14_34747731_34880360	34832209	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01192.hp1 HG01361.hp1 others(8): Show HG00735.hp1 HG01192.hp1 HG01361.hp1 HG01928.hp2 HG01934.hp1 NA18940.hp2 NA18949.hp2 NA18955.hp2 NA18977.hp1 NA19070.hp1 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0003 a0001c0003t0005 a0001c0002t0003 a0001c0003t0005	a0001c0002t0003g0143 a0001c0002t0003g0163 a0001c0002t0003g0165 others(8): Show a0001c0002t0003g0143 a0001c0002t0003g0163 a0001c0002t0003g0165 a0001c0002t0003g0175 a0001c0002t0003g0176 a0001c0002t0003g0178 a0001c0003t0005g0374 a0001c0003t0005g0375 a0001c0003t0005g0376 a0001c0003t0005g0377 a0001c0003t0005g0378	11	351	0.0313	26	c.393 others(43): Show c.393-6054_393-6053insATATATATATATATATATATATATAT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34832211	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA20300.hp2 NA18960.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0154 a0001c0002t0003g0172 a0001c0002t0003g0154 a0001c0002t0003g0172	2	320	0.0063	26	c.393 others(43): Show c.393-6056_393-6055insATATATATATATATATATATATATAT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34832215	C C	CACACACA others(19): Show CACACACACACACACACATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 NA18952.hp1 NA18971.hp1 others(4): Show HG01243.hp2 NA18952.hp1 NA18971.hp1 NA18979.hp1 NA18994.hp2 NA19001.hp1 NA19065.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003	a0001c0002t0001g0105 a0001c0002t0002g0058 a0001c0002t0002g0083 others(4): Show a0001c0002t0001g0105 a0001c0002t0002g0058 a0001c0002t0002g0083 a0001c0002t0002g0124 a0001c0002t0002g0126 a0001c0002t0002g0127 a0001c0002t0003g0060	7	180	0.0389	26	c.393 others(43): Show c.393-6060_393-6059insATATATATATGTGTGTGTGTGTGTGT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34832215	C C	CACACACA others(19): Show CACACACACACACACATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01070.hp1 HG01071.hp2 others(7): Show HG00642.hp2 HG01070.hp1 HG01071.hp2 HG01168.hp1 HG01257.hp2 HG01258.hp2 HG01358.hp1 HG01515.hp1 HG01975.hp1 HG02109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0107 a0001c0002t0002g0111 a0001c0002t0002g0112 others(7): Show a0001c0002t0002g0107 a0001c0002t0002g0111 a0001c0002t0002g0112 a0001c0002t0002g0113 a0001c0002t0002g0114 a0001c0002t0002g0122 a0001c0002t0002g0123 a0001c0002t0002g0125 a0001c0002t0002g0131 a0001c0002t0002g0132	10	183	0.0546	26	c.393 others(43): Show c.393-6060_393-6059insATATATATATATGTGTGTGTGTGTGT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34832215	C C	CACACACA others(19): Show CACACACACACATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0366 a0001c0002t0004g0366	1	174	0.0057	26	c.393 others(43): Show c.393-6060_393-6059insATATATATATATATATGTGTGTGTGT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34832215	C C	CACACACA others(19): Show CACACACACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02258.hp2 HG02257.hp1 HG02258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0364 a0001c0002t0004g0365 a0001c0002t0004g0364 a0001c0002t0004g0365	2	175	0.0114	26	c.393 others(43): Show c.393-6060_393-6059insATATATATATATATATATGTGTGTGT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34832228	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0170 a0001c0002t0003g0170	1	372	0.0027	26	c.393 others(43): Show c.393-6073_393-6072insCATATATATATATATATATATATATA	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BAZ1B_chr7_73435406_73527293	73497065	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0026	1	127	0.0079	26	c.571 others(43): Show c.571+1431_571+1432insTTTTTTTTTTTTTTTTTTTTTTTTTT	BAZ1B	ENSG00000009954.11	transcript	ENST00000339594.9	protein_coding	4/19			chr7	TogoVar
BAZ2A_chr12_56590596_56635326	56597637	G G	GACACACA others(19): Show GACACACACACACACACACACACACAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0185 a0001c0002t0003g0185	1	95	0.0105	26	c.95 others(35): Show c.955_*980dupGTGTGTGTGTGTGTGTGTGTGTGTGT	BAZ2A	ENSG00000076108.12	transcript	ENST00000549884.6	protein_coding	29/29	980		chr12	TogoVar
BBOX1_chr11_27035815_27132809	27057063	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01192.hp1 HG01346.hp1 others(2): Show HG01169.hp1 HG01192.hp1 HG01346.hp1 HG01496.hp2 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0121 a0001c0001t0001g0194 others(2): Show a0001c0001t0001g0117 a0001c0001t0001g0121 a0001c0001t0001g0194 a0001c0001t0001g0215 a0001c0001t0001g0218	5	200	0.0250	26	c.220 others(41): Show c.220-138_220-137insAAAAAAAAAAAAAAAAAAAAAAAAAA	BBOX1	ENSG00000129151.9	transcript	ENST00000263182.8	protein_coding	3/8			chr11	TogoVar
BBS2_chr16_56479385_56525024	56480352	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	269	0.0037	26	c.44 others(37): Show c.4408_*4409insTTTTTTTTTTTTTTTTTTTTTTTTTT	BBS2	ENSG00000125124.14	transcript	ENST00000245157.11	protein_coding		4032		chr16	TogoVar
BBX_chr3_107517962_107816339	107778994	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01192.hp2 HG01993.hp1 others(1): Show HG00735.hp2 HG01192.hp2 HG01993.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0034 a0001c0001t0043 others(1): Show a0001c0001t0006 a0001c0001t0034 a0001c0001t0043 a0001c0001t0051	a0001c0001t0006g0179 a0001c0001t0034g0178 a0001c0001t0043g0034 others(1): Show a0001c0001t0006g0179 a0001c0001t0034g0178 a0001c0001t0043g0034 a0001c0001t0051g0029	4	92	0.0435	26	c.220 others(43): Show c.2203+477_2203+502dupTATATATATATATATATATATATATA	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BBX_chr3_107517962_107816339	107797337	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00738.hp1 HG01358.hp1 others(22): Show HG00099.hp1 HG00738.hp1 HG01358.hp1 HG01891.hp2 HG01934.hp1 HG01952.hp2 HG02004.hp1 HG02055.hp2 HG02083.hp2 HG02486.hp2 HG02630.hp2 HG02723.hp1 HG02886.hp2 HG03540.hp2 HG03579.hp1 HG04204.hp2 NA18942.hp2 NA18948.hp1 NA18971.hp1 NA18975.hp1 NA18988.hp1 NA19012.hp1 NA19043.hp2 NA19070.hp1 NA20805.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0007c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0018 a0001c0001t0029 a0001c0001t0045 a0001c0001t0054 a0001c0001t0055 a0002c0002t0002 a0002c0002t0005 a0003c0003t0008 a0003c0003t0030 a0003c0003t0031 a0007c0006t0046	a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0033 others(22): Show a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0033 a0001c0001t0001g0054 a0001c0001t0001g0063 a0001c0001t0001g0114 a0001c0001t0001g0124 a0001c0001t0001g0133 a0001c0001t0001g0206 a0001c0001t0002g0209 a0001c0001t0007g0066 a0001c0001t0007g0137 a0001c0001t0008g0043 a0001c0001t0009g0150 a0001c0001t0018g0080 a0001c0001t0029g0139 a0001c0001t0045g0176 a0001c0001t0054g0040 a0001c0001t0055g0171 a0002c0002t0002g0002 a0002c0002t0005g0011 a0003c0003t0008g0044 a0003c0003t0030g0016 a0003c0003t0031g0005 a0007c0006t0046g0004	25	105	0.2381	26	c.235 others(45): Show c.2354-1184_2354-1159dupTATATATATATATATATATATATATA	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BBX_chr3_107517962_107816339	107797364	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01257.hp2 HG02809.hp2 others(1): Show HG00735.hp2 HG01257.hp2 HG02809.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0051 others(1): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0051 a0001c0001t0053	a0001c0001t0005g0083 a0001c0001t0006g0193 a0001c0001t0051g0029 others(1): Show a0001c0001t0005g0083 a0001c0001t0006g0193 a0001c0001t0051g0029 a0001c0001t0053g0022	4	161	0.0248	26	c.235 others(45): Show c.2354-1159_2354-1158insTATATATATATATATATATATATATG	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	15/17			chr3	TogoVar
BCAN_chr1_156637117_156664528	156643633	C C	CAGAGAGA others(19): Show CAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0145 a0003c0004t0001g0145	1	58	0.0172	26	c.-9+ others(41): Show c.-9+1359_-9+1360insGAGAGAGAGAGAGAGAGAGAGAGAGA	BCAN	ENSG00000132692.19	transcript	ENST00000329117.10	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
BCAP29_chr7_107575246_107625478	107591641	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA18522.hp2 HG02965.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0043 a0001c0001t0001g0044	2	299	0.0067	26	c.194 others(43): Show c.194-2298_194-2297insACACACACACACACACACACACACAC	BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr7	TogoVar

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