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
ATXN1_chr6_16294112_16766460	16562451	A A	AAAAGGAA others(43): Show AAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAGAGGAGAG G	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02257.hp1 HG02486.hp1 others(7): Show HG01255.hp2 HG02257.hp1 HG02486.hp1 HG02622.hp2 HG02723.hp2 HG02965.hp2 HG03130.hp2 HG03139.hp1 HG03225.hp1 HG06807.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0008 a0001c0012 a0001c0032 others(3): Show a0001c0008 a0001c0012 a0001c0032 a0002c0004 a0002c0039 a0004c0037	a0001c0008t0002 a0001c0012t0006 a0001c0012t0048 others(5): Show a0001c0008t0002 a0001c0012t0006 a0001c0012t0048 a0001c0032t0018 a0002c0004t0006 a0002c0004t0009 a0002c0039t0012 a0004c0037t0001	a0001c0008t0002g0013 a0001c0008t0002g0137 a0001c0012t0006g0014 others(7): Show a0001c0008t0002g0013 a0001c0008t0002g0137 a0001c0012t0006g0014 a0001c0012t0006g0052 a0001c0012t0048g0031 a0001c0032t0018g0059 a0002c0004t0006g0010 a0002c0004t0009g0163 a0002c0039t0012g0030 a0004c0037t0001g0016	10	122	0.0820	50	c.-36 others(71): Show c.-361+23328_-361+23329insCCTCTCCTCTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTTCCTTT	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	4/7			chr6	TogoVar
ATXN7L1_chr7_105599772_105881599	105664575	G G	GTGTGTGT others(43): Show GTGTGTGTATGTGTGTATATATATATATATATATATATATATATATATAT A	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0131 a0001c0001t0008g0131	1	190	0.0053	50	c.578 others(65): Show c.578+490_578+491insTATATATATATATATATATATATATATATA TATATACACACATACACACA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	4/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105664575	G G	GTGTGTGT others(43): Show GTGTGTGTATGTGTGTGTATATATATATATATATATATATATATATATAT A	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 NA19085.hp1 HG01168.hp2 HG01169.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 a0001c0001t0001 a0001c0001t0003 a0001c0001t0012	a0001c0001t0001g0073 a0001c0001t0003g0021 a0001c0001t0012g0028 a0001c0001t0001g0073 a0001c0001t0003g0021 a0001c0001t0012g0028	3	192	0.0156	50	c.578 others(65): Show c.578+490_578+491insTATATATATATATATATATATATATATATA TATACACACACATACACACA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	4/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105727750	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATATACATATATATATATATATAT G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0182 a0001c0001t0006g0182	1	249	0.0040	50	c.355 others(69): Show c.355+60853_355+60854insCATATATATATATATATATGTATATA TATATATATATATATATATATATA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105731748	A A	AAAAAGAA others(43): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA G	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp2 HG01515.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0126 a0001c0001t0013g0140 a0001c0001t0013g0126 a0001c0001t0013g0140	2	53	0.0377	50	c.355 others(69): Show c.355+56806_355+56855dupCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTT	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
AURKB_chr17_8199734_8215575	8214607	T T	TATATATA others(43): Show TATATATATATATATATATATATATATATATATATATATACACACACACA C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02896.hp1 HG02895.hp2 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	2	214	0.0093	50	c.-41 others(61): Show c.-4104_-4103insGTGTGTGTGTGTATATATATATATATATATATAT ATATATATATATATAT	AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding		4033		chr17	TogoVar
AURKB_chr17_8199734_8215575	8214607	T T	TATATATA others(43): Show TATATATATATATATATATATATATATATATATATATGTATACACACACA C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	213	0.0047	50	c.-41 others(61): Show c.-4104_-4103insGTGTGTGTGTATACATATATATATATATATATAT ATATATATATATATAT	AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding		4033		chr17	TogoVar
AUTS2_chr7_69593475_70798506	69917455	G G	GTCCTACT others(43): Show GTCCTACTATACTACCTCTTAGAATAACATGTAGTCCTACTATAGTAGAA T	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA20752.hp1 NA21309.hp1 HG03516.hp2 NA20752.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018	a0001c0001t0015g0002 a0001c0001t0016g0003 a0001c0001t0018g0001 a0001c0001t0015g0002 a0001c0001t0016g0003 a0001c0001t0018g0001	3	76	0.0395	50	c.522 others(69): Show c.522+17957_522+17958insTCCTACTATACTACCTCTTAGAATAA CATGTAGTCCTACTATAGTAGAAT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18			chr7	TogoVar
AXDND1_chr1_179360971_179559735	179394592	A A	AAAAATAA others(43): Show AAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01071.hp2 HG01167.hp1 others(7): Show HG00609.hp1 HG01071.hp2 HG01167.hp1 HG01192.hp1 HG01516.hp2 HG02922.hp1 NA18971.hp2 NA18986.hp1 NA19012.hp2 NA19058.hp1	a0003 a0021 a0003 a0021	a0003c0004 a0021c0033 a0003c0004 a0021c0033	a0003c0004t0001 a0021c0033t0001 a0003c0004t0001 a0021c0033t0001	a0003c0004t0001g0007 a0003c0004t0001g0013 a0003c0004t0001g0032 others(7): Show a0003c0004t0001g0007 a0003c0004t0001g0013 a0003c0004t0001g0032 a0003c0004t0001g0042 a0003c0004t0001g0173 a0003c0004t0001g0176 a0003c0004t0001g0309 a0003c0004t0001g0315 a0003c0004t0001g0316 a0021c0033t0001g0317	10	295	0.0339	50	c.100 others(67): Show c.1005-485_1005-484insAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATA	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	10/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AXIN1_chr16_282440_357723	286051	C C	CCCCGCGG others(43): Show CCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCAACCCCGCGGTTC T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02055.hp2 HG02280.hp1 others(4): Show HG01891.hp1 HG02055.hp2 HG02280.hp1 HG02451.hp2 HG02622.hp2 HG02965.hp1 HG03471.hp1	a0002 a0002	a0002c0006 a0002c0026 a0002c0006 a0002c0026	a0002c0006t0001 a0002c0006t0024 a0002c0026t0024 a0002c0006t0001 a0002c0006t0024 a0002c0026t0024	a0002c0006t0001g0229 a0002c0006t0001g0230 a0002c0006t0001g0232 others(4): Show a0002c0006t0001g0229 a0002c0006t0001g0230 a0002c0006t0001g0232 a0002c0006t0001g0233 a0002c0006t0001g0234 a0002c0006t0024g0077 a0002c0026t0024g0169	7	376	0.0186	50	c.20 others(61): Show c.2070_*2071insAGAACCGCGGGGTTGGAGAACCGCGGGGTTGGGG TTGGGAGAACCGCGGG	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding		1388		chr16	TogoVar
B3GALT1_chr2_167288001_167879045	167521980	G G	GTATATAT others(43): Show GTATATATATATATATATATATATATATATATATACACATATATATATAA T	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0096 a0001c0001t0009g0096	1	70	0.0143	50	c.-41 others(71): Show c.-410+31704_-410+31705insATATATATATATATATATATATAT ATATATATACACATATATATATAATT	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GLCT_chr13_31194975_31337276	31316407	T T	TTATATAT others(43): Show TTATATATATATATATATATATATATATATATATATATATATATATATAT A	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	58	0.0172	50	c.106 others(69): Show c.1065-1135_1065-1134insTATATATATATATATATATATATATA TATATATATATATATATATATATA	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr13	TogoVar
B3GNTL1_chr17_82937149_83056770	82969334	A A	ATTTTAGT others(43): Show ATTTTAGTAGGGACAGGGTTTCACTACATTGCCCAGGGCTGATTTTTGTA T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(105): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00673.hp1 HG00733.hp2 HG01071.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp2 HG01192.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01934.hp1 HG01943.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02056.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02132.hp2 HG02135.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02486.hp2 HG02572.hp2 HG02630.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02886.hp2 HG03017.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03486.hp2 HG03492.hp1 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp1 NA18522.hp1 NA18612.hp2 NA18944.hp2 NA18947.hp1 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp2 NA18971.hp1 NA18973.hp1 NA18983.hp1 NA19000.hp2 NA19002.hp2 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19012.hp1 NA19062.hp2 NA19064.hp1 NA19070.hp2 NA19074.hp2 NA19080.hp2 NA19081.hp1 NA19083.hp1 NA19090.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0014 a0001c0016 a0001c0020 a0002c0005 a0002c0009 a0002c0010 a0003c0023 a0005c0028	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0022 a0001c0001t0032 a0001c0001t0036 a0001c0002t0002 a0001c0002t0008 a0001c0002t0016 a0001c0002t0025 a0001c0002t0028 a0001c0002t0029 a0001c0003t0004 a0001c0003t0021 a0001c0006t0001 a0001c0006t0002 a0001c0006t0008 a0001c0014t0002 a0001c0016t0001 a0001c0020t0005 a0002c0005t0003 a0002c0005t0007 a0002c0009t0003 a0002c0009t0013 a0002c0010t0007 a0003c0023t0011 a0005c0028t0002	a0001c0001t0001g0062 a0001c0001t0001g0178 a0001c0001t0002g0059 others(104): Show a0001c0001t0001g0062 a0001c0001t0001g0178 a0001c0001t0002g0059 a0001c0001t0002g0065 a0001c0001t0002g0153 a0001c0001t0002g0155 a0001c0001t0002g0157 a0001c0001t0002g0159 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0004g0229 a0001c0001t0004g0239 a0001c0001t0004g0240 a0001c0001t0004g0241 a0001c0001t0004g0246 a0001c0001t0004g0247 a0001c0001t0004g0250 a0001c0001t0006g0158 a0001c0001t0006g0165 a0001c0001t0022g0233 a0001c0001t0022g0243 a0001c0001t0032g0164 a0001c0001t0036g0248 a0001c0002t0002g0066 a0001c0002t0002g0073 a0001c0002t0002g0075 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0002g0102 a0001c0002t0002g0104 a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0113 a0001c0002t0002g0115 a0001c0002t0002g0122 a0001c0002t0002g0126 a0001c0002t0002g0127 a0001c0002t0002g0131 a0001c0002t0002g0132 a0001c0002t0008g0070 a0001c0002t0008g0096 a0001c0002t0008g0097 a0001c0002t0008g0098 a0001c0002t0008g0099 a0001c0002t0008g0105 a0001c0002t0008g0106 a0001c0002t0008g0109 a0001c0002t0008g0112 a0001c0002t0008g0124 a0001c0002t0016g0135 a0001c0002t0016g0136 a0001c0002t0025g0095 a0001c0002t0028g0121 a0001c0002t0029g0074 a0001c0003t0004g0187 a0001c0003t0004g0189 a0001c0003t0004g0197 a0001c0003t0004g0202 a0001c0003t0004g0219 a0001c0003t0021g0221 a0001c0006t0001g0023 a0001c0006t0002g0026 a0001c0006t0002g0032 a0001c0006t0002g0041 a0001c0006t0008g0021 a0001c0014t0002g0012 a0001c0016t0001g0009 a0001c0016t0001g0010 a0001c0020t0005g0220 a0002c0005t0003g0053 a0002c0005t0003g0054 a0002c0005t0003g0057 a0002c0005t0003g0058 a0002c0005t0003g0060 a0002c0005t0003g0061 a0002c0005t0003g0063 a0002c0005t0003g0064 a0002c0005t0003g0156 a0002c0005t0003g0163 a0002c0005t0003g0174 a0002c0005t0003g0180 a0002c0005t0007g0231 a0002c0005t0007g0237 a0002c0005t0007g0238 a0002c0009t0003g0079 a0002c0009t0003g0092 a0002c0009t0003g0093 a0002c0009t0003g0100 a0002c0009t0003g0123 a0002c0009t0013g0067 a0002c0009t0013g0088 a0002c0010t0007g0005 a0002c0010t0007g0206 a0002c0010t0007g0207 a0002c0010t0007g0208 a0002c0010t0007g0209 a0002c0010t0007g0218 a0003c0023t0011g0020 a0005c0028t0002g0107	108	266	0.4060	50	c.460 others(67): Show c.460-3589_460-3588insATACAAAAATCAGCCCTGGGCAATGTAG TGAAACCCTGTCCCTACTAAAA	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B4GALNT3_chr12_454939_568509	511645	T T	TCCGCCTT others(43): Show TCCGCCTTCCACCTTCCACCTTCCACCTTCCACCTTCCTTCCACCTTCCA C	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	391	0.0026	50	c.170 others(69): Show c.170-23520_170-23519insCGCCTTCCACCTTCCACCTTCCACCT TCCACCTTCCTTCCACCTTCCACC	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT4_chr11_364499_387117	369395	G G	GCCCCGCC others(43): Show GCCCCGCCCCGCCTTCCCGCGCCCCGCACCCCCGCGCCCCGCCCCGCCTC C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	55	0.0182	50	c.-40 others(59): Show c.-409_-408insCCCCGCCCCGCCTTCCCGCGCCCCGCACCCCCGCGC CCCGCCCCGCCTCC	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding		103		chr11	TogoVar
BAG3_chr10_119646380_119682819	119675778	T T	TCCTTCCC others(43): Show TCCTTCCCTCCTTCCCTCCTTCCCTCCCCCTCCCTTCCCCCCTTCCCCTT C	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0243 a0001c0001t0003g0243	1	328	0.0030	50	c.910 others(65): Show c.910-684_910-683insTTCCCTCCTTCCCTCCTTCCCTCCCCCTCC CTTCCCCCCTTCCCCTTCCC	BAG3	ENSG00000151929.10	transcript	ENST00000369085.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
BANP_chr16_87946434_88082316	88001105	G G	GCCTTCCA others(43): Show GCCTTCCAGACACGTCTCCATGCACGCACGTGTGCGGCTGTACTCACCTG T	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0010 a0002c0018t0010	a0002c0018t0010g0114 a0002c0018t0010g0114	1	350	0.0029	50	c.363 others(67): Show c.363-3159_363-3158insTGCGGCTGTACTCACCTGTCCTTCCAGA CACGTCTCCATGCACGCACGTG	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
BBOX1_chr11_27035815_27132809	27066699	C C	CATTTTAA others(43): Show CATTTTAAGAATTTGTTGATGTTTACGTTCATACATACTATTGATTTGCC A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01109.hp2 HG01243.hp2 others(31): Show HG00735.hp2 HG01109.hp2 HG01243.hp2 HG01496.hp1 HG02055.hp1 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02451.hp1 HG02572.hp1 HG02647.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG06807.hp1 NA19030.hp1 NA19240.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0003 a0001c0002t0001 a0001c0002t0003 others(4): Show a0001c0001t0003 a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 a0001c0002t0007 a0001c0003t0005 a0001c0004t0003	a0001c0001t0003g0019 a0001c0001t0003g0239 a0001c0001t0003g0252 others(25): Show a0001c0001t0003g0019 a0001c0001t0003g0239 a0001c0001t0003g0252 a0001c0002t0001g0004 a0001c0002t0001g0022 a0001c0002t0001g0062 a0001c0002t0001g0126 a0001c0002t0001g0135 a0001c0002t0001g0265 a0001c0002t0001g0266 a0001c0002t0001g0269 a0001c0002t0001g0270 a0001c0002t0003g0020 a0001c0002t0003g0021 a0001c0002t0003g0261 a0001c0002t0003g0262 a0001c0002t0006g0251 a0001c0002t0006g0253 a0001c0002t0006g0254 a0001c0002t0006g0255 a0001c0002t0006g0256 a0001c0002t0006g0257 a0001c0002t0006g0264 a0001c0002t0006g0282 a0001c0002t0007g0032 a0001c0003t0005g0267 a0001c0003t0005g0268 a0001c0004t0003g0238	34	316	0.1076	50	c.334 others(67): Show c.334+9410_334+9459dupGTTCATACATACTATTGATTTGCCAATT TTAAGAATTTGTTGATGTTTAC	BBOX1	ENSG00000129151.9	transcript	ENST00000263182.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
BCAP29_chr7_107575246_107625478	107591641	T T	TACACACA others(43): Show TACACACACACACACACACACACACACACACACACACACACACACACACA C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG03834.hp2 NA18954.hp1 others(4): Show HG00735.hp1 HG03834.hp2 NA18954.hp1 NA18957.hp2 NA18978.hp1 NA18978.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0059 a0001c0001t0001g0067 a0001c0001t0001g0096 others(4): Show a0001c0001t0001g0059 a0001c0001t0001g0067 a0001c0001t0001g0096 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0006g0068	7	304	0.0230	50	c.194 others(67): Show c.194-2298_194-2297insACACACACACACACACACACACACACAC ACACACACACACACACACACAC	BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCKDK_chr16_31103386_31117791	31104757	G G	GGGGGGTC others(43): Show GGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02056.hp1 HG02145.hp2 others(9): Show HG02055.hp2 HG02056.hp1 HG02145.hp2 HG02257.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02922.hp1 HG03041.hp2 HG03098.hp2 NA18981.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0003g0002 a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0003g0002	12	176	0.0682	50	c.-39 others(61): Show c.-3900_-3899insGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGT	BCKDK	ENSG00000103507.14	transcript	ENST00000219794.11	protein_coding		3628		chr16	TogoVar
BCKDK_chr16_31103386_31117791	31104772	T T	TGCCCGGC others(43): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCC C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	298	0.0034	50	c.-38 others(61): Show c.-3885_-3884insGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG TGGGGGTCAGCCCCCC	BCKDK	ENSG00000103507.14	transcript	ENST00000219794.11	protein_coding		3613		chr16	TogoVar
BCL2L10_chr15_52104263_52117775	52117102	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTT T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0081 a0002c0002t0002g0081	1	219	0.0046	50	c.-43 others(61): Show c.-4377_-4376insAAAAAAAAAAAAAAAAAAAAAATATATATATATA TATATATATATATATA	BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding		4328		chr15	TogoVar
BCL2L10_chr15_52104263_52117775	52117102	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTT T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0085 a0002c0002t0002g0085	1	219	0.0046	50	c.-43 others(61): Show c.-4377_-4376insAAAAAAAAAAAAAAAAAAAAAAAATATATATATA TATATATATATATATA	BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding		4328		chr15	TogoVar
BCOR_chrX_40046251_40102958	40046600	G G	GTATATAT others(43): Show GTATATATATATATATATATATATGTATATATATATATATATATATGTAT A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0221 a0001c0002t0001g0221	1	150	0.0067	50	c.55 others(61): Show c.5508_*5509insTATACATATATATATATATATATATACATATATA TATATATATATATATA	BCOR	ENSG00000183337.18	transcript	ENST00000378444.9	protein_coding		4650		chrX	TogoVar
BDH1_chr3_197504783_197560968	197517316	T T	TTTCCTGC others(43): Show TTTCCTGCTCTATGGTCTCCATCCCCCCCTCAGGCCGACCCCATCAGTCA C	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0050 a0001c0008t0050	a0001c0008t0050g0264 a0001c0008t0050g0264	1	318	0.0031	50	c.410 others(67): Show c.410-2950_410-2901dupGTGACTGATGGGGTCGGCCTGAGGGGGG GATGGAGACCATAGAGCAGGAA	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	6/7			chr3	TogoVar
BFSP2_chr3_133395056_133480208	133426004	G G	GCAGGGCA others(43): Show GCAGGGCAGGGAAAGGAAGGGAAGGGAAGGAAAGGGAAAGAAAGGGAAGG A	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18983.hp1 NA18964.hp2 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0228 a0001c0001t0001g0224 a0001c0001t0001g0228	2	249	0.0080	50	c.490 others(69): Show c.490-21313_490-21312insCAGGGCAGGGAAAGGAAGGGAAGGGA AGGAAAGGGAAAGAAAGGGAAGGA	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6			chr3	TogoVar
BHMT_chr5_79106809_79137288	79137035	C C	CATATGAA others(43): Show CATATGAATATATATATGAATATACATATGAATATATATATGAATATACA T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 NA18945.hp2 NA18975.hp1 others(1): Show HG02056.hp2 NA18945.hp2 NA18975.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0035 a0001c0001t0001g0185 a0001c0001t0001g0186	4	267	0.0150	50	c.59 others(61): Show c.5919_*5920insATATGAATATATATATGAATATACATATGAATAT ATATATGAATATACAT	BHMT	ENSG00000145692.15	transcript	ENST00000274353.10	protein_coding		4748		chr5	TogoVar
BICC1_chr10_58507872_58836435	58621953	A A	ACAACAGA others(43): Show ACAACAGAACAGAACAACAGAACAGAACAACAGAACAGAACAACAGAACA G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0017 a0002c0002t0017	a0002c0002t0017g0061 a0002c0002t0017g0061	1	118	0.0085	50	c.237 others(67): Show c.237+1052_237+1053insCAACAGAACAGAACAACAGAACAGAACA ACAGAACAGAACAACAGAACAG	BICC1	ENSG00000122870.12	transcript	ENST00000373886.8	protein_coding	2/20			chr10	TogoVar
BMAL1_chr11_13272790_13392266	13288415	T T	TTTCTTTC others(43): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTT C	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	307	0.0033	50	c.-26 others(71): Show c.-263+10494_-263+10495insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTCTTTCTTTCTTTCTT	BMAL1	ENSG00000133794.20	transcript	ENST00000403290.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BMERB1_chr16_15429588_15593259	15444123	G G	GTTTTTTT others(43): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0239 a0001c0002t0001g0239	1	15	0.0667	50	c.106 others(67): Show c.106+9391_106+9392insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTT	BMERB1	ENSG00000166780.11	transcript	ENST00000300006.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
BMERB1_chr16_15429588_15593259	15591942	C C	CATAATAT others(43): Show CATAATATATAGATATATATCTATATATAATATATAGATATATATCTATA T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0236 a0001c0002t0001g0236	1	224	0.0045	50	c.51 others(61): Show c.5113_*5114insATAATATATAGATATATATCTATATATAATATAT AGATATATATCTATAT	BMERB1	ENSG00000166780.11	transcript	ENST00000300006.9	protein_coding		3684		chr16	TogoVar
BMERB1_chr16_15429588_15593259	15591945	A A	AATATATA others(43): Show AATATATAGATATATATCTATATATAATATATAGATATATATCTATATAT T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00642.hp1 HG00738.hp1 others(31): Show HG00099.hp1 HG00642.hp1 HG00738.hp1 HG01074.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01256.hp1 HG01257.hp2 HG01517.hp1 HG01891.hp2 HG02055.hp2 HG02145.hp1 HG02145.hp2 HG02559.hp1 HG02572.hp2 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03486.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03927.hp1 HG04228.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 a0001c0002t0001 a0001c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0016 others(31): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0084 a0001c0001t0001g0104 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0258 a0001c0001t0001g0263 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0291 a0001c0001t0003g0010 a0001c0001t0003g0030 a0001c0001t0003g0082 a0001c0001t0003g0085 a0001c0001t0003g0237 a0001c0001t0003g0255 a0001c0001t0013g0264 a0001c0001t0013g0265 a0001c0002t0001g0273 a0001c0005t0001g0068 a0001c0005t0001g0069	34	262	0.1298	50	c.51 others(61): Show c.5116_*5117insATATATAGATATATATCTATATATAATATATAGA TATATATCTATATATT	BMERB1	ENSG00000166780.11	transcript	ENST00000300006.9	protein_coding		3687		chr16	TogoVar
BMPR1A_chr10_86751619_86932969	86931298	C C	CACACACA others(43): Show CACACACACACACACACACACACACACACATATATATATATATATATATA T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0020 a0001c0003t0020	a0001c0003t0020g0158 a0001c0003t0020g0158	1	121	0.0083	50	c.75 others(61): Show c.7579_*7580insACACACACACACACACACACACACACACATATAT ATATATATATATATAT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding		3330		chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86931298	C C	CACACACA others(43): Show CACACACACACACACACACACACACACATATATATATATATATATATATA T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0077 a0002c0001t0077	a0002c0001t0077g0194 a0002c0001t0077g0194	1	121	0.0083	50	c.75 others(61): Show c.7579_*7580insACACACACACACACACACACACACACATATATAT ATATATATATATATAT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding		3330		chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86931298	C C	CACACACA others(43): Show CACACACACACACACACACATATATATATATATATATATATATATATATA T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0002 a0001c0003t0014g0002	1	121	0.0083	50	c.75 others(61): Show c.7579_*7580insACACACACACACACACACATATATATATATATAT ATATATATATATATAT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding		3330		chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86931298	C C	CACACACA others(43): Show CACACACACACACACATATATATATATATATATATATATATATATATATA T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0056 a0001c0003t0056	a0001c0003t0056g0205 a0001c0003t0056g0205	1	121	0.0083	50	c.75 others(61): Show c.7579_*7580insACACACACACACACATATATATATATATATATAT ATATATATATATATAT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding		3330		chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86931298	C C	CACACACA others(43): Show CACACACACACACATATATATATATATATATATATATATATATATATATA T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp2 HG02155.hp2 HG02622.hp2 others(1): Show HG01934.hp2 HG02155.hp2 HG02622.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0007 a0001c0002t0025 a0001c0002t0027 others(1): Show a0001c0002t0007 a0001c0002t0025 a0001c0002t0027 a0002c0001t0005	a0001c0002t0007g0036 a0001c0002t0025g0035 a0001c0002t0027g0013 others(1): Show a0001c0002t0007g0036 a0001c0002t0025g0035 a0001c0002t0027g0013 a0002c0001t0005g0183	4	124	0.0323	50	c.75 others(61): Show c.7579_*7580insACACACACACACATATATATATATATATATATAT ATATATATATATATAT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding		3330		chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86931298	C C	CACACACA others(43): Show CACACACACACATATATATATATATATATATATATATATATATATATATA T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp2 NA18955.hp2 NA18949.hp2 NA18955.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0003 a0002c0001t0002 a0001c0002t0003 a0002c0001t0002	a0001c0002t0003g0098 a0002c0001t0002g0181 a0001c0002t0003g0098 a0002c0001t0002g0181	2	122	0.0164	50	c.75 others(61): Show c.7579_*7580insACACACACACATATATATATATATATATATATAT ATATATATATATATAT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding		3330		chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86931298	C C	CACACACA others(43): Show CACACACACATATATATATATATATATATATATATATATATATATATATA T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp1 HG03669.hp2 NA18989.hp2 others(2): Show HG02148.hp1 HG03669.hp2 NA18989.hp2 NA19001.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0004 a0001c0002t0030 a0002c0001t0005 a0001c0002t0004 a0001c0002t0030 a0002c0001t0005	a0001c0002t0004g0069 a0001c0002t0004g0110 a0001c0002t0030g0141 others(2): Show a0001c0002t0004g0069 a0001c0002t0004g0110 a0001c0002t0030g0141 a0002c0001t0005g0187 a0002c0001t0005g0265	5	125	0.0400	50	c.75 others(61): Show c.7579_*7580insACACACACATATATATATATATATATATATATAT ATATATATATATATAT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding		3330		chr10	TogoVar
BMPR2_chr2_202371327_202572749	202534994	G G	GCCACCTC others(43): Show GCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGTGGCTGACCCCC C	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	86	0.0116	50	c.127 others(69): Show c.1276+2282_1276+2283insGCGGCTGGCCGGGCGGGTGGCTGACC CCCCCCACCTCCCTCCCGGACGGG	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
BMPR2_chr2_202371327_202572749	202535038	A A	ACCCCCCC others(43): Show ACCCCCCCACCTCCCTCCCGGACGGGTCGGCTGGCCGGGCGGGTGGCTGA C	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02145.hp1 HG03831.hp2 others(1): Show HG00609.hp1 HG02145.hp1 HG03831.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0097 a0001c0001t0001g0128 a0001c0001t0001g0192 others(1): Show a0001c0001t0001g0097 a0001c0001t0001g0128 a0001c0001t0001g0192 a0001c0001t0015g0014	4	219	0.0183	50	c.127 others(69): Show c.1276+2328_1276+2329insGGGTCGGCTGGCCGGGCGGGTGGCTG ACCCCCCCCACCTCCCTCCCGGAC	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
BNC2_chr9_16404503_16875670	16861181	A A	AATATATA others(43): Show AATATATATATATATATATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0054 a0001c0001t0004g0054	1	15	0.0667	50	c.3+9 others(63): Show c.3+9464_3+9465insATATATATATATATATATATATATATATATAT ATATATATATATATATAT	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	1/6			chr9	TogoVar
BOC_chr3_113206557_113292459	113236286	A A	ATATATAT others(43): Show ATATATATATATATATACCCATGGGTATATATATATATATATACCCATGG G	intron_variant intron_variant	MODIFIER	HG02451.hp2 NA19030.hp2 HG02451.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0118 a0001c0006t0001g0166 a0001c0001t0001g0118 a0001c0006t0001g0166	2	376	0.0053	50	c.-81 others(69): Show c.-81-13420_-81-13419insCCCATGGGTATATATATATATATATA CCCATGGGTATATATATATATATA	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BOC_chr3_113206557_113292459	113260721	A A	AAGAACAG others(43): Show AAGAACAGAACAGAACAGAACAGAACAGAACAGAACAGAACAGAACAGAA C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03130.hp1 NA18993.hp1 others(2): Show HG01891.hp2 HG03130.hp1 NA18993.hp1 NA19002.hp1 NA19010.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0001c0034 a0003c0017 a0001c0002 a0001c0034 a0003c0017	a0001c0002t0002 a0001c0034t0015 a0003c0017t0001 a0001c0002t0002 a0001c0034t0015 a0003c0017t0001	a0001c0002t0002g0011 a0001c0002t0002g0032 a0001c0002t0002g0167 others(2): Show a0001c0002t0002g0011 a0001c0002t0002g0032 a0001c0002t0002g0167 a0001c0034t0015g0192 a0003c0017t0001g0155	5	180	0.0278	50	c.377 others(67): Show c.377-7546_377-7545insAACAGAACAGAACAGAACAGAACAGAAC AGAACAGAACAGAACAGAACAG	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BOC_chr3_113206557_113292459	113260721	A A	ACAGAAAG others(43): Show ACAGAAAGAACAGAACAGAACAGAACAGAACAGAACAGAACAGAACAGAA C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02129.hp2 HG02165.hp2 others(2): Show HG00280.hp2 HG02129.hp2 HG02165.hp2 NA18747.hp1 NA18941.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0003 a0001c0002t0010 a0001c0002t0002 a0001c0002t0003 a0001c0002t0010	a0001c0002t0002g0078 a0001c0002t0002g0164 a0001c0002t0002g0347 others(2): Show a0001c0002t0002g0078 a0001c0002t0002g0164 a0001c0002t0002g0347 a0001c0002t0003g0223 a0001c0002t0010g0255	5	180	0.0278	50	c.377 others(67): Show c.377-7578_377-7577insCAGAAAGAACAGAACAGAACAGAACAGA ACAGAACAGAACAGAACAGAAC	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	4/19			chr3	TogoVar
BOC_chr3_113206557_113292459	113260721	A A	ACAGAACA others(43): Show ACAGAACAGAAAGAACAGAACAGAACAGAACAGAACAGAACAGAACAGAA C	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03540.hp2 NA19030.hp1 HG03516.hp2 HG03540.hp2 NA19030.hp1	a0001 a0001	a0001c0006 a0001c0012 a0001c0013 a0001c0006 a0001c0012 a0001c0013	a0001c0006t0009 a0001c0012t0006 a0001c0013t0001 a0001c0006t0009 a0001c0012t0006 a0001c0013t0001	a0001c0006t0009g0253 a0001c0012t0006g0199 a0001c0013t0001g0194 a0001c0006t0009g0253 a0001c0012t0006g0199 a0001c0013t0001g0194	3	178	0.0169	50	c.377 others(67): Show c.377-7578_377-7577insCAGAACAGAAAGAACAGAACAGAACAGA ACAGAACAGAACAGAACAGAAC	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	4/19			chr3	TogoVar
BPIFB1_chr20_33278214_33314871	33295662	G G	GAGAAAGA others(43): Show GAGAAAGAAAGAAAGAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA A	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0021 a0021	a0021c0021 a0021c0021	a0021c0021t0001 a0021c0021t0001	a0021c0021t0001g0258 a0021c0021t0001g0258	1	359	0.0028	50	c.598 others(67): Show c.598-1847_598-1846insGAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAA	BPIFB1	ENSG00000125999.11	transcript	ENST00000253354.2	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
BPI_chr20_38299156_38342505	38314069	T T	TGATGATG others(43): Show TGATGATGATGATGGTGATGGGATGATGGTGGTGATGGTAATGGTGGGGA A	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18964.hp2 NA19011.hp2 others(2): Show NA18953.hp2 NA18964.hp2 NA19011.hp2 NA19064.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0342 a0001c0001t0002g0344 a0001c0001t0002g0014 a0001c0001t0002g0342 a0001c0001t0002g0344	5	357	0.0140	50	c.600 others(67): Show c.600+2159_600+2160insGTGGTGATGGTAATGGTGGGGAAGATGA TGATGATGGTGATGGGATGATG	BPI	ENSG00000101425.14	transcript	ENST00000642449.2	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr20	TogoVar
BPI_chr20_38299156_38342505	38314125	T T	TGATGATG others(43): Show TGATGATGATGGTGATGGGATGATGATGGTGGTGATGGTAATGGTGGGGA A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp1 others(94): Show HG00099.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00544.hp2 HG00639.hp2 HG00642.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01168.hp1 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01257.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01928.hp2 HG01934.hp2 HG01993.hp1 HG02071.hp1 HG02071.hp2 HG02135.hp1 HG02148.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02602.hp2 HG02683.hp1 HG03195.hp2 HG03209.hp2 HG03471.hp1 HG03710.hp2 HG03834.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp2 NA18612.hp1 NA18939.hp1 NA18940.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp2 NA18947.hp2 NA18949.hp1 NA18951.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18961.hp1 NA18962.hp1 NA18967.hp2 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18983.hp1 NA18985.hp1 NA18990.hp2 NA18994.hp1 NA19002.hp2 NA19009.hp2 NA19010.hp2 NA19012.hp1 NA19043.hp2 NA19057.hp1 NA19065.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp2 NA19072.hp1 NA19084.hp2 NA19086.hp1 NA20129.hp1 NA20805.hp2	a0001 a0003 a0005 others(8): Show a0001 a0003 a0005 a0009 a0010 a0016 a0017 a0028 a0032 a0035 a0037	a0001c0001 a0001c0055 a0003c0003 others(9): Show a0001c0001 a0001c0055 a0003c0003 a0005c0006 a0009c0010 a0010c0008 a0016c0019 a0017c0020 a0028c0031 a0032c0050 a0035c0045 a0037c0046	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0055t0002 a0003c0003t0001 a0003c0003t0002 a0005c0006t0001 a0005c0006t0002 a0005c0006t0003 a0009c0010t0002 a0010c0008t0001 a0016c0019t0001 a0017c0020t0002 a0028c0031t0002 a0032c0050t0001 a0035c0045t0002 a0037c0046t0002	a0001c0001t0001g0013 a0001c0001t0001g0037 a0001c0001t0001g0250 others(68): Show a0001c0001t0001g0013 a0001c0001t0001g0037 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0282 a0001c0001t0001g0312 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0324 a0001c0001t0001g0328 a0001c0001t0001g0332 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0045 a0001c0001t0002g0159 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0260 a0001c0001t0002g0272 a0001c0001t0002g0313 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0333 a0001c0001t0002g0343 a0001c0001t0003g0335 a0001c0001t0003g0336 a0001c0055t0002g0001 a0003c0003t0001g0012 a0003c0003t0001g0038 a0003c0003t0001g0044 a0003c0003t0001g0160 a0003c0003t0001g0273 a0003c0003t0001g0274 a0003c0003t0001g0345 a0003c0003t0002g0311 a0005c0006t0001g0103 a0005c0006t0001g0251 a0005c0006t0002g0045 a0005c0006t0002g0101 a0005c0006t0002g0104 a0005c0006t0002g0249 a0005c0006t0002g0261 a0005c0006t0003g0095 a0009c0010t0002g0310 a0010c0008t0001g0102 a0016c0019t0001g0012 a0017c0020t0002g0001 a0017c0020t0002g0319 a0028c0031t0002g0245 a0032c0050t0001g0288 a0035c0045t0002g0314 a0037c0046t0002g0318	97	424	0.2288	50	c.600 others(67): Show c.600+2198_600+2199insGTGATGGGATGATGATGGTGGTGATGGT AATGGTGGGGAAGATGATGATG	BPI	ENSG00000101425.14	transcript	ENST00000642449.2	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr20	TogoVar
BPNT2_chr8_56952931_56998867	56956044	A A	AATATATA others(43): Show AATATATATATATATATATATATATATATATATATATATATATATATATA T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp1 NA19030.hp2 HG02523.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0192 a0001c0001t0002g0203 a0001c0001t0002g0192 a0001c0001t0002g0203	2	23	0.0870	50	c.77 others(61): Show c.7748_*7749insATATATATATATATATATATATATATATATATAT ATATATATATATATAT	BPNT2	ENSG00000104331.9	transcript	ENST00000262644.9	protein_coding		1886		chr8	TogoVar

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