Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact

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
B3GALT1_chr2_167288001_167879045	167563255	C C	CGGGGTGG others(44): Show CGGGGTGGCTGGCCGGACGGGGGGCCGACCCCCCCCCACCTCCCCCCCGG AT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01255.hp1 HG01496.hp1 others(15): Show HG00741.hp1 HG01255.hp1 HG01496.hp1 HG02109.hp2 HG02258.hp1 HG02717.hp2 HG02723.hp2 HG03098.hp1 HG03209.hp1 HG03540.hp1 NA18953.hp1 NA19030.hp1 NA19056.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0016 a0001c0001t0018 a0001c0001t0022 a0001c0001t0023 a0001c0001t0027 a0001c0001t0031 a0001c0001t0034 a0001c0003t0041	a0001c0001t0001g0062 a0001c0001t0001g0076 a0001c0001t0002g0094 others(15): Show a0001c0001t0001g0062 a0001c0001t0001g0076 a0001c0001t0002g0094 a0001c0001t0003g0028 a0001c0001t0005g0024 a0001c0001t0006g0071 a0001c0001t0007g0102 a0001c0001t0009g0096 a0001c0001t0010g0075 a0001c0001t0010g0107 a0001c0001t0016g0077 a0001c0001t0018g0093 a0001c0001t0022g0047 a0001c0001t0023g0037 a0001c0001t0027g0036 a0001c0001t0031g0041 a0001c0001t0034g0044 a0001c0003t0041g0115	18	106	0.1698	51	c.-41 others(72): Show c.-410+72982_-410+72983insTGGCTGGCCGGACGGGGGGCCGAC CCCCCCCCACCTCCCCCCCGGATGGGG	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167563264	T T	TGGCCGGA others(44): Show TGGCCGGACGGGGGGCCGACCCCCCCCCACCTCCCCCCCGGATGGGGCGG CC	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01891.hp2 HG02257.hp1 others(7): Show HG01169.hp2 HG01891.hp2 HG02257.hp1 HG02258.hp2 HG02615.hp2 HG02647.hp2 HG02683.hp1 HG02723.hp1 HG02922.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0013 a0001c0001t0025 a0001c0001t0026 a0001c0002t0012	a0001c0001t0001g0098 a0001c0001t0002g0001 a0001c0001t0002g0010 others(7): Show a0001c0001t0001g0098 a0001c0001t0002g0001 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0070 a0001c0001t0011g0009 a0001c0001t0013g0091 a0001c0001t0025g0008 a0001c0001t0026g0006 a0001c0002t0012g0090	10	82	0.1220	51	c.-41 others(72): Show c.-410+72993_-410+72994insACGGGGGGCCGACCCCCCCCCACC TCCCCCCCGGATGGGGCGGCCGGCCGG	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167563264	T T	TGGCCGGA others(44): Show TGGCCGGACGGGGGGCCGACCCCCCCCCACCTCCCCCCCGGGTGGGGCGG CC	intron_variant intron_variant	MODIFIER	HG00673.hp2 NA18968.hp2 NA19007.hp1 HG00673.hp2 NA18968.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0020 a0001c0001t0001 a0001c0001t0004 a0001c0001t0020	a0001c0001t0001g0078 a0001c0001t0004g0014 a0001c0001t0020g0063 a0001c0001t0001g0078 a0001c0001t0004g0014 a0001c0001t0020g0063	3	75	0.0400	51	c.-41 others(72): Show c.-410+72993_-410+72994insACGGGGGGCCGACCCCCCCCCACC TCCCCCCCGGGTGGGGCGGCCGGCCGG	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GNTL1_chr17_82937149_83056770	83002886	C C	CTCCCGCC others(44): Show CTCCCGCCCTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCACTCTCTGC AG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0149 a0001c0001t0012g0149	1	220	0.0045	51	c.459 others(68): Show c.459+2228_459+2229insCTGCAGAGAGTGGGAGGGCGGGCTCAGG AATCCCACACGCGGAGGGCGGGA	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83003187	C C	CTCCCGCC others(44): Show CTCCCGCCCTCCGCGTGTGGGATTCCTGAGCTCGCCCTCCCACTCTCTGC AG	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0031 a0001c0004t0031	a0001c0004t0031g0036 a0001c0004t0031g0036	1	251	0.0040	51	c.459 others(68): Show c.459+1927_459+1928insCTGCAGAGAGTGGGAGGGCGAGCTCAGG AATCCCACACGCGGAGGGCGGGA	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83052555	G G	GGAGGTCC others(44): Show GGAGGTCCTCCAGGAGGAGGGGTGCCCAGGAGTGAGGCCCTGACCCCACC GT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00408.hp1 others(69): Show HG00099.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp2 HG00597.hp2 HG00609.hp2 HG00673.hp1 HG00733.hp2 HG01081.hp1 HG01106.hp1 HG01109.hp2 HG01192.hp1 HG01515.hp1 HG01891.hp2 HG01934.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp2 HG02055.hp2 HG02080.hp1 HG02083.hp1 HG02135.hp1 HG02135.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02886.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03492.hp2 HG03579.hp2 HG03669.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp1 NA18906.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18951.hp1 NA18953.hp2 NA18963.hp2 NA18965.hp1 NA18967.hp2 NA18971.hp1 NA18980.hp2 NA19002.hp2 NA19004.hp2 NA19007.hp2 NA19012.hp1 NA19043.hp2 NA19062.hp1 NA19062.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19083.hp1 NA19084.hp1 NA19088.hp2 NA19090.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0011 others(7): Show a0001c0001 a0001c0002 a0001c0011 a0001c0012 a0001c0029 a0002c0009 a0002c0027 a0003c0030 a0004c0017 a0005c0028	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 others(19): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0008 a0001c0002t0010 a0001c0002t0016 a0001c0002t0025 a0001c0002t0028 a0001c0002t0029 a0001c0011t0011 a0001c0011t0012 a0001c0011t0030 a0001c0012t0001 a0001c0012t0002 a0001c0029t0001 a0002c0009t0003 a0002c0009t0013 a0002c0027t0003 a0003c0030t0011 a0004c0017t0002 a0005c0028t0002	a0001c0001t0002g0134 a0001c0002t0001g0089 a0001c0002t0001g0094 others(69): Show a0001c0001t0002g0134 a0001c0002t0001g0089 a0001c0002t0001g0094 a0001c0002t0001g0117 a0001c0002t0001g0130 a0001c0002t0002g0066 a0001c0002t0002g0073 a0001c0002t0002g0075 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0002g0102 a0001c0002t0002g0104 a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0113 a0001c0002t0002g0115 a0001c0002t0002g0122 a0001c0002t0002g0126 a0001c0002t0002g0127 a0001c0002t0002g0131 a0001c0002t0002g0132 a0001c0002t0006g0071 a0001c0002t0006g0072 a0001c0002t0006g0108 a0001c0002t0006g0128 a0001c0002t0006g0129 a0001c0002t0008g0070 a0001c0002t0008g0096 a0001c0002t0008g0097 a0001c0002t0008g0098 a0001c0002t0008g0099 a0001c0002t0008g0105 a0001c0002t0008g0106 a0001c0002t0008g0109 a0001c0002t0008g0112 a0001c0002t0008g0124 a0001c0002t0010g0103 a0001c0002t0010g0133 a0001c0002t0016g0135 a0001c0002t0016g0136 a0001c0002t0025g0095 a0001c0002t0028g0121 a0001c0002t0029g0074 a0001c0011t0011g0139 a0001c0011t0011g0140 a0001c0011t0012g0143 a0001c0011t0030g0144 a0001c0012t0001g0069 a0001c0012t0001g0081 a0001c0012t0001g0101 a0001c0012t0001g0125 a0001c0012t0002g0080 a0001c0029t0001g0142 a0002c0009t0003g0079 a0002c0009t0003g0092 a0002c0009t0003g0093 a0002c0009t0003g0100 a0002c0009t0003g0123 a0002c0009t0013g0067 a0002c0027t0003g0114 a0003c0030t0011g0141 a0004c0017t0002g0137 a0004c0017t0002g0138 a0005c0028t0002g0107	72	218	0.3303	51	c.-80 others(60): Show c.-805_-804insACGGTGGGGTCAGGGCCTCACTCCTGGGCACCCCTC CTCCTGGAGGACCTC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding		786		chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83052795	G G	GCCCTCAC others(44): Show GCCCTCACCCCACCGTGAGGTCCCCCAGAAGGAGGGGTGCCCAGCAGTGA GA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA21309.hp1 NA19043.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0011 a0003c0030 a0001c0011 a0003c0030	a0001c0011t0030 a0003c0030t0011 a0001c0011t0030 a0003c0030t0011	a0001c0011t0030g0144 a0003c0030t0011g0141 a0001c0011t0030g0144 a0003c0030t0011g0141	2	266	0.0075	51	c.-10 others(62): Show c.-1045_-1044insTCTCACTGCTGGGCACCCCTCCTTCTGGGGGACC TCACGGTGGGGTGAGGG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding		1026		chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83052809	G G	GTGAGGTC others(44): Show GTGAGGTCCCCCAGAAGGAGGGGTGCCCAGGAGTGAGACCCTGACCCCAC CA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 NA18906.hp1 NA19010.hp2 HG03486.hp2 NA18906.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0004 a0001c0001t0014 a0001c0007t0005 a0001c0001t0004 a0001c0001t0014 a0001c0007t0005	a0001c0001t0004g0250 a0001c0001t0014g0251 a0001c0007t0005g0253 a0001c0001t0004g0250 a0001c0001t0014g0251 a0001c0007t0005g0253	3	264	0.0114	51	c.-10 others(62): Show c.-1059_-1058insTGGTGGGGTCAGGGTCTCACTCCTGGGCACCCCT CCTTCTGGGGGACCTCA	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding		1040		chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83052920	C C	CCCAGGAG others(44): Show CCCAGGAGGAGGGGTGCCCAGGAGTGAGGCCCTGACCCCACCAGGAGGTC CT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG00639.hp1 HG01069.hp2 others(22): Show HG00621.hp2 HG00639.hp1 HG01069.hp2 HG01243.hp2 HG01934.hp2 HG01943.hp2 HG02004.hp2 HG02080.hp2 HG02293.hp1 HG02300.hp2 HG02683.hp2 HG03041.hp1 HG03209.hp1 HG03486.hp2 NA18906.hp1 NA18953.hp1 NA18959.hp2 NA18963.hp1 NA18973.hp2 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19043.hp2 NA20129.hp1 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0007 a0001c0011 others(3): Show a0001c0001 a0001c0007 a0001c0011 a0002c0005 a0003c0030 a0006c0026	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0014 a0001c0001t0017 a0001c0001t0019 a0001c0001t0027 a0001c0007t0005 a0001c0011t0030 a0002c0005t0003 a0003c0030t0011 a0006c0026t0006	a0001c0001t0001g0004 a0001c0001t0001g0166 a0001c0001t0001g0167 others(21): Show a0001c0001t0001g0004 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0178 a0001c0001t0001g0185 a0001c0001t0002g0173 a0001c0001t0002g0177 a0001c0001t0002g0179 a0001c0001t0004g0250 a0001c0001t0006g0183 a0001c0001t0010g0184 a0001c0001t0014g0251 a0001c0001t0017g0176 a0001c0001t0019g0182 a0001c0001t0027g0181 a0001c0007t0005g0253 a0001c0011t0030g0144 a0002c0005t0003g0174 a0002c0005t0003g0180 a0003c0030t0011g0141 a0006c0026t0006g0175	25	194	0.1289	51	c.-11 others(62): Show c.-1170_-1169insAGGACCTCCTGGTGGGGTCAGGGCCTCACTCCTG GGCACCCCTCCTCCTGG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding		1151		chr17	TogoVar
B4GALNT3_chr12_454939_568509	545640	A A	ATGGGGAG others(44): Show ATGGGGAGGAGTGAGGAGTGGGGAGGAGCGAGGTGTGGGGAGGAGTGAGG AG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0023 a0023	a0023c0032 a0023c0032	a0023c0032t0002 a0023c0032t0002	a0023c0032t0002g0006 a0023c0032t0002g0006	1	392	0.0026	51	c.639 others(66): Show c.639+215_639+216insTGAGGAGTGGGGAGGAGTGAGGAGTGGGGA GGAGCGAGGTGTGGGGAGGAG	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	6/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT3_chr12_454939_568509	545936	A A	AGAGGAGT others(44): Show AGAGGAGTGGGGAGGTGCGAGGAGTGGGGAGGTGAGAGGAGTGGGGAGGT GC	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0019 a0019	a0019c0040 a0019c0040	a0019c0040t0001 a0019c0040t0001	a0019c0040t0001g0268 a0019c0040t0001g0268	1	385	0.0026	51	c.639 others(66): Show c.639+514_639+515insGTGCGAGGAGTGGGGAGGTGCGAGGAGTGG GGAGGTGAGAGGAGTGGGGAG	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	6/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT3_chr12_454939_568509	546034	G G	GGTGAGAG others(44): Show GGTGAGAGGAGTGGGGAGATGAGAGGAGTGGGGAGGTGAGAGGAGTGGGG AA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0062 a0001c0001t0006g0062	1	392	0.0026	51	c.639 others(66): Show c.639+566_639+567insTGAGAGGAGTGGGGAGATGAGAGGAGTGGG GAGGTGAGAGGAGTGGGGAAG	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	6/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT4_chr11_364499_387117	364641	C C	CCACCTGG others(44): Show CCACCTGGGTGTGGGAGGCCAGGCCTGCACGACAGGTGCAAAGGCAGGTC CT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG00438.hp1 others(93): Show HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp2 HG01069.hp2 HG01070.hp1 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01243.hp2 HG01255.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02074.hp2 HG02080.hp2 HG02148.hp1 HG02148.hp2 HG02258.hp2 HG02273.hp1 HG02559.hp2 HG02630.hp1 HG02723.hp1 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03490.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03688.hp1 HG03688.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG04115.hp2 HG04199.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18947.hp1 NA18947.hp2 NA18952.hp2 NA18963.hp1 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19012.hp1 NA19012.hp2 NA19057.hp1 NA19057.hp2 NA19064.hp1 NA19064.hp2 NA19081.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA20805.hp1 NA21309.hp2	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0012 a0013 a0014 a0015 a0019 a0021 a0022 a0023 a0024	a0001c0001 a0001c0003 a0001c0005 others(25): Show a0001c0001 a0001c0003 a0001c0005 a0001c0016 a0001c0024 a0002c0002 a0002c0004 a0002c0008 a0002c0033 a0002c0037 a0003c0006 a0003c0036 a0004c0042 a0004c0044 a0005c0010 a0006c0007 a0007c0011 a0008c0013 a0010c0017 a0012c0040 a0013c0020 a0014c0030 a0015c0041 a0019c0018 a0021c0019 a0022c0015 a0023c0034 a0024c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(32): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0005t0002 a0001c0016t0001 a0001c0024t0003 a0002c0002t0001 a0002c0004t0001 a0002c0008t0001 a0002c0033t0001 a0002c0037t0001 a0003c0006t0001 a0003c0036t0001 a0004c0042t0001 a0004c0044t0001 a0005c0010t0001 a0006c0007t0001 a0007c0011t0001 a0008c0013t0001 a0010c0017t0001 a0012c0040t0001 a0013c0020t0001 a0014c0030t0004 a0015c0041t0001 a0019c0018t0001 a0021c0019t0001 a0022c0015t0001 a0023c0034t0001 a0024c0021t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0034 others(92): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0002g0130 a0001c0001t0003g0019 a0001c0001t0004g0016 a0001c0001t0005g0171 a0001c0001t0005g0172 a0001c0003t0001g0097 a0001c0003t0001g0106 a0001c0003t0001g0129 a0001c0003t0001g0136 a0001c0003t0002g0024 a0001c0003t0003g0018 a0001c0003t0004g0017 a0001c0003t0004g0050 a0001c0005t0002g0108 a0001c0005t0002g0116 a0001c0005t0002g0117 a0001c0005t0002g0131 a0001c0016t0001g0104 a0001c0024t0003g0022 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0064 a0002c0002t0001g0066 a0002c0002t0001g0069 a0002c0002t0001g0075 a0002c0002t0001g0083 a0002c0002t0001g0141 a0002c0002t0001g0151 a0002c0002t0001g0155 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0163 a0002c0004t0001g0001 a0002c0004t0001g0056 a0002c0008t0001g0089 a0002c0008t0001g0144 a0002c0008t0001g0148 a0002c0033t0001g0070 a0002c0037t0001g0156 a0003c0006t0001g0077 a0003c0006t0001g0154 a0003c0036t0001g0079 a0004c0042t0001g0031 a0004c0044t0001g0032 a0005c0010t0001g0037 a0005c0010t0001g0174 a0006c0007t0001g0041 a0006c0007t0001g0175 a0007c0011t0001g0158 a0008c0013t0001g0057 a0008c0013t0001g0059 a0010c0017t0001g0086 a0012c0040t0001g0007 a0013c0020t0001g0046 a0014c0030t0004g0011 a0015c0041t0001g0030 a0019c0018t0001g0139 a0021c0019t0001g0033 a0022c0015t0001g0040 a0023c0034t0001g0090 a0024c0021t0001g0096	96	140	0.6857	51	c.-51 others(62): Show c.-5163_-5162insCACCTGGGTGTGGGAGGCCAGGCCTGCACGACAG GTGCAAAGGCAGGTCCT	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding		4857		chr11	TogoVar
B4GALNT4_chr11_364499_387117	364721	C C	CGACAGGT others(44): Show CGACAGGTGCAAAGGCAGGTCCTCACCTGGGTGTGGGAGGCCAGGCCTGC AT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	182	0.0055	51	c.-50 others(62): Show c.-5083_-5082insGACAGGTGCAAAGGCAGGTCCTCACCTGGGTGTG GGAGGCCAGGCCTGCAT	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding		4777		chr11	TogoVar
B4GALNT4_chr11_364499_387117	369409	T T	TCCCGCGC others(44): Show TCCCGCGCCCCGCACCCCGCGCCCCGCCCCGCCTCCCCCCCGCCCCGCCT TC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0176 a0002c0004t0001g0176	1	182	0.0055	51	c.-39 others(60): Show c.-395_-394insCCCGCGCCCCGCACCCCGCGCCCCGCCCCGCCTCCC CCCCGCCCCGCCTTC	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding		89		chr11	TogoVar
BABAM2_chr2_27885729_28343901	28026775	A A	AAAAAAAT others(44): Show AAAAAAATATAAATATATATTTATATATAAATATATATCTATATAAATAT AT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02647.hp2 HG02572.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0122 a0001c0001t0003g0121 a0001c0001t0002g0122 a0001c0001t0003g0121	2	144	0.0139	51	c.495 others(68): Show c.495+1381_495+1382insTAAATATATATCTATATAAATATATAAA AAATATAAATATATATTTATATA	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28112197	C C	CCCTTCCT others(44): Show CCCTTCCTTCCTTCCTTCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0090 a0001c0001t0003g0090	1	74	0.0135	51	c.571 others(70): Show c.571-17057_571-17056insTCCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTC	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BAG3_chr10_119646380_119682819	119675879	C C	CCCTTCCT others(44): Show CCCTTCCTTCCTTCCCCCTTCCCCTTTTCCCCCCTTCCCCCCTTCCTTCC TT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0056 a0002c0003t0002g0056	1	366	0.0027	51	c.910 others(66): Show c.910-571_910-570insCCCTTCCCCTTTTCCCCCCTTCCCCCCTTC CTTCCTTCCTTCCTTCCTTCC	BAG3	ENSG00000151929.10	transcript	ENST00000369085.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
BANP_chr16_87946434_88082316	88019583	G G	GGGGCGGG others(44): Show GGGGCGGGGCGTGCGGGGGGCGGGGCGTGCGGGATCTCAGCGTGCGGGGG GC	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0055 a0001c0002t0002g0055	1	346	0.0029	51	c.895 others(66): Show c.895+916_895+917insGGGCGGGGCGTGCGGGGGGCGGGGCGTGCG GGATCTCAGCGTGCGGGGGGC	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	7/13			chr16	TogoVar
BCAP29_chr7_107575246_107625478	107591656	A A	ACACACAC others(44): Show ACACACACACACACACACACACACACACACACACACACACACACACACAC CC	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	203	0.0049	51	c.194 others(68): Show c.194-2298_194-2297insACACACACACACACACACACACACACAC ACACACACACACACACACACCCC	BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAT1_chr12_24805024_24954101	24837146	A A	AAGGAAGA others(44): Show AAGGAAGAAAGAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGAG GG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0271 a0001c0001t0014g0271	1	219	0.0046	51	c.818 others(66): Show c.818-551_818-550insCCCTCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCTCTTTCTTCCT	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	7/10			chr12	TogoVar
BCL11A_chr2_60452194_60558654	60467071	A A	AGTGGTGG others(44): Show AGTGGTGGTGGTGGTGGTGGTGGTGATGATGGTGGTGGTAGTGGTGGTGG TG	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0220 a0001c0001t0005g0220	1	259	0.0039	51	c.487 others(68): Show c.487+1610_487+1660dupCACCACCACCACTACCACCACCATCATC ACCACCACCACCACCACCACCAC	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BCL2L10_chr15_52104263_52117775	52117102	A A	ATATATAT others(44): Show ATATATATATATATATATATATATATATATATATATTTTTTTTTTTTTTT TT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0075 a0002c0002t0002g0075	1	219	0.0046	51	c.-43 others(62): Show c.-4377_-4376insAAAAAAAAAAAAAAAAATATATATATATATATAT ATATATATATATATATA	BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding		4328		chr15	TogoVar
BCL2L10_chr15_52104263_52117775	52117102	A A	ATATATAT others(44): Show ATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTT TT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02148.hp1 NA19055.hp1 HG02148.hp1 NA19055.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0057 a0002c0002t0002g0011 a0002c0002t0001g0057 a0002c0002t0002g0011	2	220	0.0091	51	c.-43 others(62): Show c.-4377_-4376insAAAAAAAAAAAAAAAAAAAAATATATATATATAT ATATATATATATATATA	BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding		4328		chr15	TogoVar
BCL2L10_chr15_52104263_52117775	52117102	A A	ATATATAT others(44): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTT TT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0010 a0002c0002t0002g0010	1	219	0.0046	51	c.-43 others(62): Show c.-4377_-4376insAAAAAAAAAAAAAAAAAAAAAAAAATATATATAT ATATATATATATATATA	BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding		4328		chr15	TogoVar
BCL2L10_chr15_52104263_52117775	52117103	T T	TATATATA others(44): Show TATATATATATATATATATATATATATATATATATATATATATATTTATA TA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0100 a0002c0002t0001g0100	1	440	0.0023	51	c.-43 others(62): Show c.-4378_-4377insTATATAAATATATATATATATATATATATATATA TATATATATATATATAT	BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding		4329		chr15	TogoVar
BDH1_chr3_197504783_197560968	197517810	C C	CCCCCTTC others(44): Show CCCCCTTCAGGCCGACCCCCCCATCAGTCACTTCCTGCTCTATGGTCTCC AT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00609.hp1 HG01255.hp2 others(37): Show HG00597.hp2 HG00609.hp1 HG01255.hp2 HG01257.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG01981.hp1 HG01993.hp2 HG02055.hp2 HG02083.hp1 HG02129.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02818.hp1 HG02818.hp2 HG02965.hp1 HG02970.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03453.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp2 NA18747.hp2 NA18952.hp1 NA18957.hp1 NA18970.hp2 NA19003.hp1 NA19057.hp2 NA19068.hp2 NA19083.hp2 NA19240.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0009 others(2): Show a0001c0001 a0001c0002 a0001c0009 a0002c0005 a0005c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0011 a0001c0001t0026 a0001c0001t0039 a0001c0001t0052 a0001c0001t0053 a0001c0001t0057 a0001c0002t0003 a0001c0009t0003 a0002c0005t0016 a0005c0012t0003	a0001c0001t0001g0122 a0001c0001t0002g0063 a0001c0001t0002g0065 others(30): Show a0001c0001t0001g0122 a0001c0001t0002g0063 a0001c0001t0002g0065 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0003g0002 a0001c0001t0003g0005 a0001c0001t0003g0014 a0001c0001t0003g0021 a0001c0001t0003g0031 a0001c0001t0003g0079 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0125 a0001c0001t0005g0061 a0001c0001t0005g0220 a0001c0001t0009g0067 a0001c0001t0011g0223 a0001c0001t0026g0207 a0001c0001t0039g0206 a0001c0001t0052g0123 a0001c0001t0053g0221 a0001c0001t0057g0064 a0001c0002t0003g0075 a0001c0009t0003g0209 a0002c0005t0016g0066 a0002c0005t0016g0074 a0005c0012t0003g0222	40	253	0.1581	51	c.410 others(68): Show c.410-3395_410-3394insATGGAGACCATAGAGCAGGAAGTGACTG ATGGGGGGGTCGGCCTGAAGGGG	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	6/7			chr3	TogoVar
BEGAIN_chr14_100532147_100592417	100546333	T T	TGCCCCGC others(44): Show TGCCCCGCCCCGGCCCTCGCCCCGCCCCGGCCCTCGCCCCGCCCCGGCCC TC	intron_variant intron_variant	MODIFIER	HG00140.hp2 NA19087.hp1 HG00140.hp2 NA19087.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0083 a0001c0002t0001g0181 a0001c0002t0001g0083 a0001c0002t0001g0181	2	322	0.0062	51	c.233 others(66): Show c.233+167_233+168insGAGGGCCGGGGCGGGGCGAGGGCCGGGGCG GGGCGAGGGCCGGGGCGGGGC	BEGAIN	ENSG00000183092.18	transcript	ENST00000554140.3	protein_coding	3/6			chr14	TogoVar
BEGAIN_chr14_100532147_100592417	100546339	A A	ACCCCGGC others(44): Show ACCCCGGCCCTCGCCCCGCCCCGGCCCTCGCCCCGCCCCGGCCCTCGCCC CG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00741.hp2 HG01106.hp2 others(16): Show HG00438.hp2 HG00741.hp2 HG01106.hp2 HG02056.hp2 HG02145.hp1 HG02165.hp2 HG02717.hp1 HG02738.hp2 HG03239.hp2 HG04184.hp1 HG04228.hp1 NA18948.hp1 NA18964.hp1 NA18969.hp1 NA18973.hp2 NA18984.hp2 NA19000.hp2 NA19012.hp2 NA19064.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 others(2): Show a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0002t0015 a0001c0004t0003	a0001c0002t0001g0026 a0001c0002t0001g0043 a0001c0002t0001g0057 others(16): Show a0001c0002t0001g0026 a0001c0002t0001g0043 a0001c0002t0001g0057 a0001c0002t0001g0101 a0001c0002t0001g0115 a0001c0002t0001g0120 a0001c0002t0001g0124 a0001c0002t0001g0128 a0001c0002t0001g0144 a0001c0002t0001g0158 a0001c0002t0001g0167 a0001c0002t0001g0186 a0001c0002t0001g0261 a0001c0002t0001g0277 a0001c0002t0004g0098 a0001c0002t0005g0279 a0001c0002t0015g0280 a0001c0004t0003g0270 a0001c0004t0003g0275	19	37	0.5135	51	c.233 others(66): Show c.233+111_233+161dupCGGGGCGAGGGCCGGGGCGGGGCGAGGGCC GGGGCGGGGCGAGGGCCGGGG	BEGAIN	ENSG00000183092.18	transcript	ENST00000554140.3	protein_coding	3/6			chr14	TogoVar
BICRAL_chr6_42777052_42873556	42826163	T T	TAGTACAC others(44): Show TAGTACACAGCCATGAGTTGCAGAGCTAGGATTCTAACCCAGGCCACCAG GC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00741.hp1 HG01071.hp1 others(2): Show HG00639.hp1 HG00741.hp1 HG01071.hp1 HG03017.hp1 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0001 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0003g0137 others(2): Show a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0003g0137 a0001c0001t0003g0169 a0001c0001t0005g0143	5	268	0.0187	51	c.160 others(68): Show c.160-2329_160-2279dupAGTACACAGCCATGAGTTGCAGAGCTAG GATTCTAACCCAGGCCACCAGGC	BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
BIN1_chr2_127043032_127112154	127101094	C C	CAGCAGAG others(44): Show CAGCAGAGGCCATCTTTGACACCCTCCTCCTCTCCTTTAGCAGCCCCTCC TG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	342	0.0029	51	c.84+ others(66): Show c.84+5715_84+5765dupCAGGAGGGGCTGCTAAAGGAGAGGAGGAGG GTGTCAAAGATGGCCTCTGCT	BIN1	ENSG00000136717.15	transcript	ENST00000316724.10	protein_coding	1/18			chr2	TogoVar
BIN1_chr2_127043032_127112154	127105467	C C	CCCTCCTC others(44): Show CCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02683.hp2 HG00423.hp1 HG02683.hp2	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0001 a0001c0007t0001 a0001c0002t0001 a0001c0007t0001	a0001c0002t0001g0271 a0001c0007t0001g0270 a0001c0002t0001g0271 a0001c0007t0001g0270	2	129	0.0155	51	c.84+ others(66): Show c.84+1392_84+1393insAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG AGGAGGAGGAGGAGGAGGAGG	BIN1	ENSG00000136717.15	transcript	ENST00000316724.10	protein_coding	1/18			chr2	TogoVar
BLOC1S2_chr10_100268293_100291680	100276304	A A	ATCTCCCT others(44): Show ATCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCC CG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	373	0.0027	51	c.398 others(66): Show c.398-812_398-811insCGGGAGAGGGAGAGGGAGACGGGAGAGGGA GAGGGAGACGGGAGAGGGAGA	BLOC1S2	ENSG00000196072.12	transcript	ENST00000370372.7	protein_coding	4/4			chr10	TogoVar
BLOC1S2_chr10_100268293_100291680	100276317	G G	GTCTCCCT others(44): Show GTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCGTCTCCCTCTCCCGTCTC CC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02970.hp2 HG02723.hp2 HG02970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0044 a0002c0002t0007g0044	2	262	0.0076	51	c.398 others(66): Show c.398-825_398-824insGGGAGACGGGAGAGGGAGACGGGAGAGGGA GACGGGAGAGGGAGAGGGAGA	BLOC1S2	ENSG00000196072.12	transcript	ENST00000370372.7	protein_coding	4/4			chr10	TogoVar
BLOC1S2_chr10_100268293_100291680	100276336	G G	GTCTCCCT others(44): Show GTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCGTCTCCCTCTCCCGTCTC CC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03225.hp2 HG02717.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0151 a0001c0001t0001g0147 a0001c0001t0001g0151	2	368	0.0054	51	c.398 others(66): Show c.398-844_398-843insGGGAGACGGGAGAGGGAGACGGGAGAGGGA GACGGGAGAGGGAGAGGGAGA	BLOC1S2	ENSG00000196072.12	transcript	ENST00000370372.7	protein_coding	4/4			chr10	TogoVar
BLOC1S2_chr10_100268293_100291680	100276388	G G	GTCTCCCT others(44): Show GTCTCCCTCTCCCGTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTC CC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0018 a0002c0002t0018	a0002c0002t0018g0203 a0002c0002t0018g0203	1	324	0.0031	51	c.398 others(66): Show c.398-896_398-895insGGGAGACGGGAGAGGGAGAGGGAGACGGGA GAGGGAGACGGGAGAGGGAGA	BLOC1S2	ENSG00000196072.12	transcript	ENST00000370372.7	protein_coding	4/4			chr10	TogoVar
BMAL1_chr11_13272790_13392266	13288394	T T	TTTTCTTT others(44): Show TTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00735.hp2 others(14): Show HG00099.hp1 HG00140.hp1 HG00735.hp2 HG01069.hp2 HG02056.hp2 HG02293.hp1 HG02970.hp1 HG03688.hp2 NA18940.hp1 NA18953.hp1 NA18969.hp1 NA18969.hp2 NA19000.hp2 NA19003.hp1 NA19056.hp1 NA19082.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 others(14): Show a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0273 a0001c0001t0001g0277 a0001c0001t0001g0306 a0001c0002t0001g0292	17	144	0.1181	51	c.-26 others(72): Show c.-263+10485_-263+10486insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTT	BMAL1	ENSG00000133794.20	transcript	ENST00000403290.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BMAL1_chr11_13272790_13392266	13288399	T T	TTTCTTTC others(44): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02572.hp1 HG03486.hp1 others(1): Show HG02559.hp2 HG02572.hp1 HG03486.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 others(1): Show a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0004g0024	4	292	0.0137	51	c.-26 others(72): Show c.-263+10494_-263+10495insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTCTTTCTTTCTTTCTTT	BMAL1	ENSG00000133794.20	transcript	ENST00000403290.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BMPR1A_chr10_86751619_86932969	86865229	C C	CATTCCAC others(44): Show CATTCCACCACAAAAGAAGTGAAAATGGCCAGTCCTTGCCTTAACTGATG AT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01168.hp2 HG01169.hp1 others(10): Show HG01109.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG02559.hp2 HG02615.hp1 HG02922.hp2 HG02965.hp2 HG03130.hp2 HG03471.hp1 HG03579.hp2 NA19030.hp2 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0023 a0001c0002t0035 others(1): Show a0001c0002t0006 a0001c0002t0023 a0001c0002t0035 a0001c0002t0051	a0001c0002t0006g0025 a0001c0002t0006g0126 a0001c0002t0006g0127 others(10): Show a0001c0002t0006g0025 a0001c0002t0006g0126 a0001c0002t0006g0127 a0001c0002t0006g0130 a0001c0002t0006g0131 a0001c0002t0006g0133 a0001c0002t0006g0169 a0001c0002t0023g0001 a0001c0002t0023g0128 a0001c0002t0023g0129 a0001c0002t0035g0132 a0001c0002t0035g0135 a0001c0002t0051g0136	13	276	0.0471	51	c.-15 others(72): Show c.-152-10594_-152-10544dupCTGATGATATTCCACCACAAAAGA AGTGAAAATGGCCAGTCCTTGCCTTAA	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BPIFB1_chr20_33278214_33314871	33295662	G G	GAGAAAGA others(44): Show GAGAAAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0001 a0009c0009t0001	a0009c0009t0001g0263 a0009c0009t0001g0263	1	359	0.0028	51	c.598 others(68): Show c.598-1844_598-1843insAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGA	BPIFB1	ENSG00000125999.11	transcript	ENST00000253354.2	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
BPIFC_chr22_32408845_32469446	32424574	T T	TTTCTTCT others(44): Show TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02965.hp2 HG03453.hp2 others(1): Show HG02109.hp2 HG02965.hp2 HG03453.hp2 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0003 a0003c0003t0001 a0003c0003t0002 a0001c0001t0003 a0003c0003t0001 a0003c0003t0002	a0001c0001t0003g0298 a0003c0003t0001g0032 a0003c0003t0002g0007 others(1): Show a0001c0001t0003g0298 a0003c0003t0001g0032 a0003c0003t0002g0007 a0003c0003t0002g0304	4	374	0.0107	51	c.121 others(70): Show c.1218-5171_1218-5170insGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAA	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16			chr22	TogoVar
BPIFC_chr22_32408845_32469446	32424600	T T	TCTTCTTC others(44): Show TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTCCTCC TC	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0075	1	375	0.0027	51	c.121 others(70): Show c.1218-5197_1218-5196insGAGGAGGAGGAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAG	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16			chr22	TogoVar
BPIFC_chr22_32408845_32469446	32424600	T T	TCTTCTTC others(44): Show TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCC TC	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG03516.hp2 HG02129.hp1 HG03516.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0002 a0001c0001t0002 a0003c0003t0002	a0001c0001t0002g0239 a0003c0003t0002g0204 a0001c0001t0002g0239 a0003c0003t0002g0204	2	376	0.0053	51	c.121 others(70): Show c.1218-5197_1218-5196insGAGGAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAG	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16			chr22	TogoVar
BPIFC_chr22_32408845_32469446	32424600	T T	TCTTCTTC others(44): Show TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02056.hp1 HG00099.hp2 HG02056.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0002 a0004c0004t0002 a0001c0001t0002 a0004c0004t0002	a0001c0001t0002g0349 a0004c0004t0002g0027 a0001c0001t0002g0349 a0004c0004t0002g0027	2	376	0.0053	51	c.121 others(70): Show c.1218-5197_1218-5196insGAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAG	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16			chr22	TogoVar
BPIFC_chr22_32408845_32469446	32424660	T T	TTCTTCTT others(44): Show TTCTTCTTCTTCTTCCTCTTCTTCTTCCTCCTCTTCTTCCTCCTCTTCTT CC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0414 a0001c0001t0001g0414	1	293	0.0034	51	c.121 others(70): Show c.1218-5257_1218-5256insGGAAGAAGAGGAGGAAGAAGAGGAGG AAGAAGAAGAGGAAGAAGAAGAAGA	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16			chr22	TogoVar
BPIFC_chr22_32408845_32469446	32424663	T T	TTCTTCTT others(44): Show TTCTTCTTCTTCTTCCTCTTCTTCTTCCTCCTCTTCTTCCTCCTCTTCTT CC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	291	0.0034	51	c.121 others(70): Show c.1218-5260_1218-5259insGGAAGAAGAGGAGGAAGAAGAGGAGG AAGAAGAAGAGGAAGAAGAAGAAGA	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16			chr22	TogoVar
BPI_chr20_38299156_38342505	38305752	G G	GGGGGTAG others(44): Show GGGGGTAGTGACAGGACCTACTTCCTAGGATTGTACAAATTCATACATAT AC	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0001 a0006c0005t0001	a0006c0005t0001g0239 a0006c0005t0001g0239	1	424	0.0024	51	c.130 others(68): Show c.130+1402_130+1452dupGGTAGTGACAGGACCTACTTCCTAGGAT TGTACAAATTCATACATATACGG	BPI	ENSG00000101425.14	transcript	ENST00000642449.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr20	TogoVar
BRSK1_chr19_55278997_55317562	55308312	C C	CCTGTACC others(44): Show CCTGTACCTGGCTCCAACTTATTTTTCTTACATTTCTGGTCCTTCATGGC CT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01243.hp1 HG01255.hp1 others(42): Show HG00741.hp2 HG01243.hp1 HG01255.hp1 HG01346.hp2 HG01884.hp2 HG01891.hp2 HG01975.hp2 HG02004.hp2 HG02055.hp1 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03130.hp1 HG03195.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 NA18522.hp2 NA18906.hp2 NA19030.hp1 NA19043.hp2 NA19240.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0005 others(3): Show a0001c0001 a0001c0004 a0001c0005 a0001c0009 a0001c0018 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0001t0016 a0001c0001t0029 a0001c0004t0005 a0001c0005t0001 a0001c0009t0003 a0001c0018t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0010	a0001c0001t0001g0012 a0001c0001t0001g0026 a0001c0001t0001g0049 others(38): Show a0001c0001t0001g0012 a0001c0001t0001g0026 a0001c0001t0001g0049 a0001c0001t0001g0063 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0264 a0001c0001t0002g0012 a0001c0001t0002g0163 a0001c0001t0002g0241 a0001c0001t0002g0263 a0001c0001t0002g0277 a0001c0001t0004g0033 a0001c0001t0004g0089 a0001c0001t0004g0253 a0001c0001t0009g0090 a0001c0001t0016g0162 a0001c0001t0029g0145 a0001c0004t0005g0034 a0001c0004t0005g0036 a0001c0004t0005g0057 a0001c0004t0005g0058 a0001c0004t0005g0149 a0001c0004t0005g0187 a0001c0004t0005g0224 a0001c0004t0005g0260 a0001c0005t0001g0179 a0001c0005t0001g0284 a0001c0009t0003g0146 a0001c0018t0001g0275 a0002c0003t0002g0008 a0002c0003t0002g0017 a0002c0003t0002g0122 a0002c0003t0002g0151 a0002c0003t0002g0152 a0002c0003t0002g0161 a0002c0003t0002g0252 a0002c0003t0003g0250 a0002c0003t0010g0017	45	336	0.1339	51	c.209 others(68): Show c.2090-325_2090-275dupTGTACCTGGCTCCAACTTATTTTTCTTA CATTTCTGGTCCTTCATGGCCTC	BRSK1	ENSG00000160469.17	transcript	ENST00000309383.6	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
BRSK2_chr11_1384934_1467689	1430163	C C	CGGGGTCT others(44): Show CGGGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGC GG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00741.hp1 HG01081.hp2 others(14): Show HG00323.hp2 HG00741.hp1 HG01081.hp2 HG01167.hp1 HG01943.hp2 HG02145.hp1 HG02602.hp1 HG02630.hp2 HG03098.hp2 HG03654.hp1 HG03688.hp2 NA18522.hp2 NA18980.hp2 NA19012.hp1 NA19067.hp1 NA20129.hp2 NA20300.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0013 a0001c0001 a0002c0002 a0006c0013	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0001t0013 a0001c0001t0021 a0001c0001t0036 a0001c0001t0060 a0002c0002t0002 a0002c0002t0005 a0002c0002t0013 a0006c0013t0002	a0001c0001t0001g0032 a0001c0001t0001g0048 a0001c0001t0001g0049 others(13): Show a0001c0001t0001g0032 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0314 a0001c0001t0003g0285 a0001c0001t0011g0299 a0001c0001t0013g0308 a0001c0001t0021g0205 a0001c0001t0021g0225 a0001c0001t0021g0240 a0001c0001t0036g0303 a0001c0001t0060g0165 a0002c0002t0002g0175 a0002c0002t0005g0226 a0002c0002t0013g0002 a0006c0013t0002g0316	17	326	0.0521	51	c.92- others(66): Show c.92-5875_92-5874insGGTCTGGTCAGGTTTTGCCACTGTGCCCAG CAGTGAGCGTCTTCTGCGGGG	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1430210	C C	CGGGGTCT others(44): Show CGGGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGT GG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03130.hp2 HG02055.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0012 a0001c0001t0001g0013	2	336	0.0060	51	c.92- others(66): Show c.92-5828_92-5827insGGTCTGGTCAGGTTTTGCCACTGTGCCCAG CAGTGAGCGTCTTCTGTGGGG	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar

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