Joint Open Genome and Omics Platform (JoGo)

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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
B3GNTL1_chr17_82937149_83056770	83003230	GTCCGCGT others(29): Show GTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCGCCC	G G	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0113 a0001c0002t0002g0113	1	248	0.0040	-36	c.459 others(53): Show c.459+1849_459+1884delGGGCGGGAGGGCGGGCTCAGGAATCCCA CACGCGGA	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83003332	CCGCCCTC others(29): Show CCGCCCTCCCGCCCTCCGCGTGTGGGATTCCTGAGCT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01069.hp1 HG01071.hp1 others(1): Show HG00673.hp2 HG01069.hp1 HG01071.hp1 HG01106.hp2	a0001 a0001	a0001c0004 a0001c0006 a0001c0008 a0001c0004 a0001c0006 a0001c0008	a0001c0004t0001 a0001c0006t0002 a0001c0008t0005 a0001c0004t0001 a0001c0006t0002 a0001c0008t0005	a0001c0004t0001g0002 a0001c0006t0002g0032 a0001c0008t0005g0204 a0001c0004t0001g0002 a0001c0006t0002g0032 a0001c0008t0005g0204	4	264	0.0152	-36	c.459 others(53): Show c.459+1747_459+1782delAGCTCAGGAATCCCACACGCGGAGGGCG GGAGGGCG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83003454	CCGCCCTC others(29): Show CCGCCCTCCCGCCCTCCGCGTGTGGGATTCCTGAGCT	C C	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0003 a0002c0015t0003	a0002c0015t0003g0045 a0002c0015t0003g0045	1	257	0.0039	-36	c.459 others(53): Show c.459+1625_459+1660delAGCTCAGGAATCCCACACGCGGAGGGCG GGAGGGCG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83003724	ATGTGGGA others(29): Show ATGTGGGATTCCTGAGCCCGCCCTCCCGCCCTCCGCG	A A	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01515.hp1 NA20805.hp1 HG01168.hp2 HG01515.hp1 NA20805.hp1	a0002 a0002	a0002c0005 a0002c0009 a0002c0005 a0002c0009	a0002c0005t0007 a0002c0009t0003 a0002c0005t0007 a0002c0009t0003	a0002c0005t0007g0238 a0002c0009t0003g0092 a0002c0009t0003g0100 a0002c0005t0007g0238 a0002c0009t0003g0092 a0002c0009t0003g0100	3	144	0.0208	-36	c.459 others(53): Show c.459+1355_459+1390delCGCGGAGGGCGGGAGGGCGGGCTCAGGA ATCCCACA	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83003883	GTCCGCGT others(29): Show GTCCGCGTGTGGGATTCCTGAGCTCGCCCTCCCGCCC	G G	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02572.hp2 NA18973.hp1 HG02155.hp1 HG02572.hp2 NA18973.hp1	a0001 a0001	a0001c0014 a0001c0016 a0001c0014 a0001c0016	a0001c0014t0002 a0001c0016t0001 a0001c0014t0002 a0001c0016t0001	a0001c0014t0002g0012 a0001c0016t0001g0009 a0001c0016t0001g0010 a0001c0014t0002g0012 a0001c0016t0001g0009 a0001c0016t0001g0010	3	227	0.0132	-36	c.459 others(53): Show c.459+1196_459+1231delGGGCGGGAGGGCGAGCTCAGGAATCCCA CACGCGGA	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83003962	GTCCGCGT others(29): Show GTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCGCCC	G G	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0015	a0001c0003t0015g0223 a0001c0003t0015g0223	1	263	0.0038	-36	c.459 others(53): Show c.459+1117_459+1152delGGGCGGGAGGGCGGGCTCAGGAATCCCA CACGCGGA	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83003968	GTGTGGGA others(29): Show GTGTGGGATTCCTGAGCCCGCCCTCCCGCCCTCCGCA	G G	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA20805.hp1 HG03195.hp2 NA20805.hp1	a0002 a0003 a0002 a0003	a0002c0009 a0003c0024 a0002c0009 a0003c0024	a0002c0009t0003 a0003c0024t0010 a0002c0009t0003 a0003c0024t0010	a0002c0009t0003g0100 a0003c0024t0010g0152 a0002c0009t0003g0100 a0003c0024t0010g0152	2	264	0.0076	-36	c.459 others(53): Show c.459+1111_459+1146delTGCGGAGGGCGGGAGGGCGGGCTCAGGA ATCCCACA	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83004077	GTCCGCGT others(29): Show GTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCGCCC	G G	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0032 a0001c0006t0002g0032	1	222	0.0045	-36	c.459 others(53): Show c.459+1002_459+1037delGGGCGGGAGGGCGGGCTCAGGAATCCCA CACGCGGA	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83004100	CCGCCCTC others(29): Show CCGCCCTCCCGCCCTCCGCGTGTGGGATTCCTGAGCT	C C	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0203 a0001c0003t0009g0203	1	190	0.0053	-36	c.459 others(52): Show c.459+979_459+1014delAGCTCAGGAATCCCACACGCGGAGGGCGG GAGGGCG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83004156	GTCCGCGT others(29): Show GTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCGCCC	G G	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0251 a0001c0001t0014g0251	1	257	0.0039	-36	c.459 others(51): Show c.459+923_459+958delGGGCGGGAGGGCGGGCTCAGGAATCCCACA CGCGGA	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83004235	GTCCGCGT others(29): Show GTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCGCCC	G G	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02155.hp2 HG03209.hp1 HG01106.hp2 HG02155.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 a0001c0001 a0001c0003 a0001c0006	a0001c0001t0010 a0001c0003t0009 a0001c0006t0002 a0001c0001t0010 a0001c0003t0009 a0001c0006t0002	a0001c0001t0010g0184 a0001c0003t0009g0203 a0001c0006t0002g0032 a0001c0001t0010g0184 a0001c0003t0009g0203 a0001c0006t0002g0032	3	264	0.0114	-36	c.459 others(51): Show c.459+844_459+879delGGGCGGGAGGGCGGGCTCAGGAATCCCACA CGCGGA	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83004349	CCTCCGCG others(29): Show CCTCCGCGTGTGGGATTCCTGAGCTCGCCCTCCCACT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01081.hp1 HG01516.hp1 others(2): Show HG00741.hp2 HG01081.hp1 HG01516.hp1 HG02004.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0006 a0001c0002t0006 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0006 a0001c0003t0009	a0001c0001t0001g0168 a0001c0001t0006g0154 a0001c0001t0006g0160 others(2): Show a0001c0001t0001g0168 a0001c0001t0006g0154 a0001c0001t0006g0160 a0001c0002t0006g0071 a0001c0003t0009g0203	5	197	0.0254	-36	c.459 others(51): Show c.459+730_459+765delAGTGGGAGGGCGAGCTCAGGAATCCCACAC GCGGAG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83004416	CCGCCCTC others(29): Show CCGCCCTCCCGCCCTCCGCGTGTGGGATTCCTGAGCT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01106.hp2 HG02572.hp1 others(1): Show HG00609.hp1 HG01106.hp2 HG02572.hp1 HG03130.hp1	a0001 a0001	a0001c0006 a0001c0013 a0001c0006 a0001c0013	a0001c0006t0002 a0001c0006t0008 a0001c0006t0033 others(1): Show a0001c0006t0002 a0001c0006t0008 a0001c0006t0033 a0001c0013t0012	a0001c0006t0002g0032 a0001c0006t0008g0021 a0001c0006t0033g0046 others(1): Show a0001c0006t0002g0032 a0001c0006t0008g0021 a0001c0006t0033g0046 a0001c0013t0012g0014	4	262	0.0153	-36	c.459 others(51): Show c.459+663_459+698delAGCTCAGGAATCCCACACGCGGAGGGCGGG AGGGCG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83004507	CCTCCGCG others(29): Show CCTCCGCGTGTGGGATTCCTGAGCTCGCCCTCCCACT	C C	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01081.hp2 HG01496.hp2 HG01074.hp2 HG01081.hp2 HG01496.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0005 a0001c0006 a0002c0005	a0001c0006t0006 a0002c0005t0007 a0001c0006t0006 a0002c0005t0007	a0001c0006t0006g0007 a0002c0005t0007g0006 a0001c0006t0006g0007 a0002c0005t0007g0006	3	266	0.0113	-36	c.459 others(51): Show c.459+572_459+607delAGTGGGAGGGCGAGCTCAGGAATCCCACAC GCGGAG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83039342	CTTCTAGA others(29): Show CTTCTAGACACTGCTGGGCGCCCGCCGCCCGCCCCTG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00558.hp2 HG00621.hp1 others(30): Show HG00099.hp2 HG00558.hp2 HG00621.hp1 HG01074.hp2 HG01081.hp2 HG01167.hp1 HG01168.hp2 HG01258.hp1 HG01515.hp2 HG01516.hp2 HG01891.hp2 HG02055.hp2 HG02165.hp1 HG02273.hp1 HG02300.hp1 HG02451.hp2 HG02886.hp2 HG02976.hp2 HG03041.hp2 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03540.hp2 HG03669.hp2 NA18522.hp1 NA18747.hp1 NA18906.hp1 NA18995.hp1 NA19010.hp2 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA20300.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0007 others(8): Show a0001c0001 a0001c0002 a0001c0007 a0001c0011 a0001c0029 a0002c0005 a0002c0010 a0003c0021 a0003c0023 a0003c0030 a0004c0017	a0001c0001t0004 a0001c0001t0009 a0001c0001t0014 others(17): Show a0001c0001t0004 a0001c0001t0009 a0001c0001t0014 a0001c0001t0015 a0001c0001t0022 a0001c0001t0036 a0001c0002t0002 a0001c0002t0029 a0001c0007t0004 a0001c0007t0005 a0001c0007t0009 a0001c0011t0011 a0001c0011t0012 a0001c0029t0001 a0002c0005t0007 a0002c0010t0007 a0003c0021t0035 a0003c0023t0011 a0003c0030t0011 a0004c0017t0002	a0001c0001t0004g0240 a0001c0001t0004g0241 a0001c0001t0004g0246 others(29): Show a0001c0001t0004g0240 a0001c0001t0004g0241 a0001c0001t0004g0246 a0001c0001t0004g0250 a0001c0001t0009g0249 a0001c0001t0014g0251 a0001c0001t0015g0252 a0001c0001t0022g0243 a0001c0001t0036g0248 a0001c0002t0002g0073 a0001c0002t0029g0074 a0001c0007t0004g0244 a0001c0007t0004g0245 a0001c0007t0005g0232 a0001c0007t0005g0236 a0001c0007t0005g0242 a0001c0007t0005g0253 a0001c0007t0009g0254 a0001c0011t0011g0139 a0001c0011t0011g0140 a0001c0011t0012g0143 a0001c0029t0001g0142 a0002c0005t0007g0006 a0002c0005t0007g0231 a0002c0005t0007g0237 a0002c0005t0007g0238 a0002c0010t0007g0196 a0003c0021t0035g0186 a0003c0023t0011g0020 a0003c0030t0011g0141 a0004c0017t0002g0137 a0004c0017t0002g0138	33	266	0.1241	-36	c.233 others(53): Show c.233-4279_233-4244delCAGGGGCGGGCGGCGGGCGCCCAGCAGT GTCTAGAA	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	3/12			chr17	TogoVar
B4GALNT3_chr12_454939_568509	507835	GCTTGGTG others(29): Show GCTTGGTGGACACCTGCCCCTGGAAATCCAGTAGTAC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00733.hp2 HG00735.hp2 others(15): Show HG00280.hp1 HG00733.hp2 HG00735.hp2 HG01109.hp2 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01516.hp2 HG01517.hp2 HG02273.hp2 HG02451.hp2 HG02615.hp1 HG03491.hp2 HG03540.hp2 HG04204.hp2 NA20752.hp1 NA20805.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0008	a0001c0001 a0001c0002 a0002c0003 others(4): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004 a0006c0007 a0008c0012 a0008c0014	a0001c0001t0002 a0001c0001t0016 a0001c0001t0058 others(13): Show a0001c0001t0002 a0001c0001t0016 a0001c0001t0058 a0001c0001t0062 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0036 a0002c0003t0005 a0002c0003t0008 a0003c0004t0002 a0003c0004t0004 a0003c0004t0005 a0006c0007t0047 a0008c0012t0010 a0008c0014t0030	a0001c0001t0002g0054 a0001c0001t0016g0282 a0001c0001t0058g0121 others(15): Show a0001c0001t0002g0054 a0001c0001t0016g0282 a0001c0001t0058g0121 a0001c0001t0062g0382 a0001c0002t0003g0035 a0001c0002t0004g0139 a0001c0002t0006g0138 a0001c0002t0006g0387 a0001c0002t0006g0388 a0001c0002t0036g0137 a0002c0003t0005g0341 a0002c0003t0008g0078 a0003c0004t0002g0285 a0003c0004t0004g0390 a0003c0004t0005g0174 a0006c0007t0047g0167 a0008c0012t0010g0389 a0008c0014t0030g0095	18	386	0.0466	-36	c.170 others(55): Show c.170-27295_170-27260delCCTTGGTGGACACCTGCCCCTGGAAA TCCAGTAGTA	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT3_chr12_454939_568509	507871	CCTTGGTG others(29): Show CCTTGGTGGACACCTGCCCCTGGAAATCCAGTAGTAG	C C	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0009 a0009	a0009c0018 a0009c0018	a0009c0018t0002 a0009c0018t0002	a0009c0018t0002g0132 a0009c0018t0002g0132	1	387	0.0026	-36	c.170 others(55): Show c.170-27207_170-27172delCCCCTGGAAATCCAGTAGTAGCTTGG TGGACACCTG	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT3_chr12_454939_568509	511311	TCCGCCTT others(29): Show TCCGCCTTCTGCCTTCCACCTTCCACCTTCCTTCCAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG01106.hp1 others(36): Show HG00140.hp1 HG00140.hp2 HG01106.hp1 HG01175.hp1 HG01261.hp2 HG01361.hp2 HG01884.hp1 HG01884.hp2 HG02145.hp1 HG02572.hp1 HG02622.hp2 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02886.hp2 HG02896.hp1 HG02965.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03491.hp1 HG03492.hp1 HG03710.hp1 HG04115.hp1 HG04115.hp2 HG04204.hp1 NA18906.hp1 NA18952.hp1 NA18981.hp2 NA19030.hp2 NA19077.hp2 NA19240.hp2 NA20300.hp1 NA21309.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0011 a0020 a0021 a0022	a0001c0001 a0001c0002 a0001c0013 others(17): Show a0001c0001 a0001c0002 a0001c0013 a0001c0016 a0001c0044 a0002c0003 a0002c0034 a0003c0004 a0004c0005 a0004c0027 a0004c0028 a0005c0006 a0006c0007 a0007c0008 a0008c0012 a0009c0009 a0011c0015 a0020c0024 a0021c0046 a0022c0037	a0001c0001t0001 a0001c0001t0006 a0001c0001t0020 others(31): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0020 a0001c0001t0046 a0001c0002t0002 a0001c0002t0013 a0001c0002t0073 a0001c0013t0002 a0001c0016t0083 a0001c0016t0088 a0001c0044t0001 a0002c0003t0041 a0002c0003t0090 a0002c0034t0072 a0003c0004t0001 a0003c0004t0005 a0003c0004t0024 a0004c0005t0016 a0004c0005t0034 a0004c0005t0043 a0004c0005t0085 a0004c0027t0078 a0004c0028t0004 a0005c0006t0008 a0005c0006t0016 a0006c0007t0002 a0007c0008t0007 a0007c0008t0027 a0008c0012t0010 a0009c0009t0003 a0011c0015t0092 a0020c0024t0002 a0021c0046t0013 a0022c0037t0002	a0001c0001t0001g0116 a0001c0001t0001g0223 a0001c0001t0006g0062 others(36): Show a0001c0001t0001g0116 a0001c0001t0001g0223 a0001c0001t0006g0062 a0001c0001t0020g0212 a0001c0001t0046g0312 a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0013g0175 a0001c0002t0073g0063 a0001c0013t0002g0177 a0001c0016t0083g0228 a0001c0016t0088g0229 a0001c0044t0001g0383 a0002c0003t0041g0221 a0002c0003t0090g0145 a0002c0034t0072g0210 a0003c0004t0001g0217 a0003c0004t0005g0172 a0003c0004t0005g0173 a0003c0004t0024g0171 a0004c0005t0016g0295 a0004c0005t0034g0371 a0004c0005t0043g0219 a0004c0005t0085g0081 a0004c0027t0078g0276 a0004c0028t0004g0207 a0005c0006t0008g0216 a0005c0006t0016g0188 a0006c0007t0002g0311 a0007c0008t0007g0187 a0007c0008t0027g0142 a0007c0008t0027g0143 a0007c0008t0027g0144 a0008c0012t0010g0293 a0009c0009t0003g0039 a0011c0015t0092g0234 a0020c0024t0002g0090 a0021c0046t0013g0245 a0022c0037t0002g0227	39	392	0.0995	-36	c.170 others(55): Show c.170-23853_170-23818delCGCCTTCTGCCTTCCACCTTCCACCT TCCTTCCACC	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
BAHCC1_chr17_81390457_81471331	81411494	GCCTGCCT others(29): Show GCCTGCCTGCCTGCCTGCCTGCCTTCCTTCCTTCCTT	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0016 a0002c0010t0016	a0002c0010t0016g0161 a0002c0010t0016g0161	1	328	0.0030	-36	c.178 others(55): Show c.178+11581_178+11616delGCCTGCCTGCCTGCCTGCCTTCCTTC CTTCCTTCCT	BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAZ2B_chr2_159313979_159621548	159324625	TACACACA others(29): Show TACACACACACACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02109.hp1 HG02615.hp2 others(4): Show HG00639.hp2 HG02109.hp1 HG02615.hp2 HG02895.hp1 HG02965.hp1 HG03540.hp2 HG03579.hp2	a0001 a0006 a0015 a0001 a0006 a0015	a0001c0001 a0001c0019 a0001c0020 others(2): Show a0001c0001 a0001c0019 a0001c0020 a0006c0006 a0015c0017	a0001c0001t0001 a0001c0001t0002 a0001c0019t0002 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0019t0002 a0001c0020t0001 a0006c0006t0002 a0015c0017t0001	a0001c0001t0001g0004 a0001c0001t0001g0102 a0001c0001t0002g0141 others(4): Show a0001c0001t0001g0004 a0001c0001t0001g0102 a0001c0001t0002g0141 a0001c0019t0002g0136 a0001c0020t0001g0046 a0006c0006t0002g0149 a0015c0017t0001g0006	7	85	0.0824	-36	c.635 others(53): Show c.6353+150_6353+185delGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	36/36			chr2	TogoVar
BAZ2B_chr2_159313979_159621548	159325032	TTATATAT others(29): Show TTATATATATATTATATATATATATATATTATATATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02647.hp2 HG02809.hp2 others(4): Show HG00099.hp1 HG02647.hp2 HG02809.hp2 HG03516.hp2 NA18974.hp2 NA18999.hp1 NA19002.hp1	a0001 a0004 a0009 a0001 a0004 a0009	a0001c0001 a0001c0023 a0004c0004 others(1): Show a0001c0001 a0001c0023 a0004c0004 a0009c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0023t0002 a0004c0004t0001 a0009c0014t0002	a0001c0001t0001g0069 a0001c0001t0001g0082 a0001c0001t0002g0133 others(4): Show a0001c0001t0001g0069 a0001c0001t0001g0082 a0001c0001t0002g0133 a0001c0001t0008g0131 a0001c0023t0002g0147 a0004c0004t0001g0080 a0009c0014t0002g0181	7	155	0.0452	-36	c.621 others(52): Show c.6210-114_6210-79delTATATATAATATATATATATATATAATAT ATATATA	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	35/36			chr2	TogoVar
BBLN_chr9_128155265_128168924	128164282	CCCACTCT others(29): Show CCCACTCTTGGCCTGTCTCCCCAGTAATAGGGTTGGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0008 a0001c0001t0006g0008	1	394	0.0025	-36	c.66 others(45): Show c.668_*703delCCACTCTTGGCCTGTCTCCCCAGTAATAGGGTTGGT	BBLN	ENSG00000171159.5	transcript	ENST00000372994.2	protein_coding		359		chr9	TogoVar
BBS9_chr7_33124564_33611069	33294290	CATCTATC others(29): Show CATCTATCTATCTATCTATCTATCTATCTATCTATCT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02922.hp2 HG03098.hp1 HG02615.hp2 HG02922.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126	3	97	0.0309	-36	c.101 others(57): Show c.1016+20363_1016+20398delATCTATCTATCTATCTATCTATCT ATCTATCTATCT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33294334	TATCTATC others(29): Show TATCTATCTATCTATCTATCTCTTTGTCCATCCATCC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03516.hp2 HG02486.hp1 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0195 a0002c0002t0001g0197 a0002c0002t0001g0195 a0002c0002t0001g0197	2	266	0.0075	-36	c.101 others(57): Show c.1016+20382_1016+20417delTATCTATCTATCTATCTCTTTGTC CATCCATCCATC	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33299598	ATTTAATA others(29): Show ATTTAATATTTACTAAATATTAAATTTATAATACTAG	A A	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA21309.hp2 HG03471.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0041 a0001c0001t0013g0042 a0001c0001t0013g0041 a0001c0001t0013g0042	2	266	0.0075	-36	c.101 others(57): Show c.1016+25690_1016+25725delCTAAATATTAAATTTATAATACTA GTTTAATATTTA	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAM_chr19_44804103_44826421	44810897	CAGGGAGG others(29): Show CAGGGAGGAGGGGCTGGGGCCTAGACTCCTGGGTCTG	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	408	0.0025	-36	c.83- others(49): Show c.83-306_83-271delAGACTCCTGGGTCTGAGGGAGGAGGGGCTGGG GCCT	BCAM	ENSG00000187244.12	transcript	ENST00000270233.12	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
BCAS3_chr17_60672851_61397831	60754708	CACACACA others(29): Show CACACACACACACACACACACACACACACACACAGAG	C C	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0046 a0001c0004t0001g0046	1	74	0.0135	-36	c.403 others(53): Show c.403+7430_403+7465delACACACACACACACACACACACACACAC ACACAGAG	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	6/23			chr17	TogoVar
BCL11B_chr14_99164287_99277197	99199669	TGTGTGTG others(29): Show TGTGTGTGTGTGTGTGCGCGCGCGCGCGCACGTGCAC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA18948.hp2 NA18962.hp2 others(5): Show HG02572.hp1 NA18948.hp2 NA18962.hp2 NA18965.hp2 NA18967.hp1 NA18981.hp2 NA19058.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0009 a0001c0001t0067 others(3): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0067 a0001c0002t0003 a0001c0002t0019 a0001c0002t0052	a0001c0001t0001g0216 a0001c0001t0001g0227 a0001c0001t0009g0054 others(5): Show a0001c0001t0001g0216 a0001c0001t0001g0227 a0001c0001t0009g0054 a0001c0001t0067g0258 a0001c0002t0003g0225 a0001c0002t0019g0139 a0001c0002t0019g0140 a0001c0002t0052g0141	8	348	0.0230	-36	c.641 others(55): Show c.641-23510_641-23475delGTGCACGTGCGCGCGCGCGCGCACAC ACACACACAC	BCL11B	ENSG00000127152.18	transcript	ENST00000357195.8	protein_coding	3/3			chr14	TogoVar
BCL11B_chr14_99164287_99277197	99229007	GATGGATG others(29): Show GATGGATGGATGGATGGATGGATGGATGGATGGATGC	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02630.hp1 HG02896.hp2 others(2): Show HG02258.hp2 HG02630.hp1 HG02896.hp2 HG02897.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0025 a0001c0001t0064 a0001c0002t0080 others(1): Show a0001c0001t0025 a0001c0001t0064 a0001c0002t0080 a0001c0006t0023	a0001c0001t0025g0228 a0001c0001t0064g0186 a0001c0002t0080g0345 others(2): Show a0001c0001t0025g0228 a0001c0001t0064g0186 a0001c0002t0080g0345 a0001c0006t0023g0190 a0001c0006t0023g0191	5	348	0.0144	-36	c.640 others(53): Show c.640+2302_640+2337delGCATCCATCCATCCATCCATCCATCCAT CCATCCAT	BCL11B	ENSG00000127152.18	transcript	ENST00000357195.8	protein_coding	3/3			chr14	TogoVar
BCL2L11_chr2_111115914_111173444	111120966	GCGCCGCT others(29): Show GCGCCGCTGCCGCTGCCGCCGCCGCCGCCGCCGCCGC	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0005 a0001c0001t0017g0005	1	396	0.0025	-36	c.-22 others(45): Show c.-229_-194delTGCCGCTGCCGCCGCCGCCGCCGCCGCCGCCGCCGC	BCL2L11	ENSG00000153094.25	transcript	ENST00000393256.8	protein_coding	1/4	2738	INFO_REALIGN_3_PRIME	chr2	TogoVar
BCL3_chr19_44743708_44765044	44756564	AGTCTGAG others(29): Show AGTCTGAGGGAGGAGGGCTGGGGATCTGGACTCCTGG	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01433.hp2 HG00735.hp2 HG01433.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0128 a0001c0005t0003g0139 a0001c0005t0003g0128 a0001c0005t0003g0139	2	331	0.0060	-36	c.519 others(51): Show c.519+247_519+282delATCTGGACTCCTGGGTCTGAGGGAGGAGGG CTGGGG	BCL3	ENSG00000069399.15	transcript	ENST00000164227.10	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
BCL9L_chr11_118891136_118930926	118930270	GTGGATGA others(29): Show GTGGATGACTCTGCCGAGGGAATACCGCAGACTAGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0068 a0001c0002t0009g0068	1	248	0.0040	-36	c.-51 others(47): Show c.-5199_-5164delGCCTAGTCTGCGGTATTCCCTCGGCAGAGTCATC CA	BCL9L	ENSG00000186174.13	transcript	ENST00000683865.1	protein_coding		4345		chr11	TogoVar
BCLAF3_chrX_19907860_19996061	19995634	AAAGAAAG others(29): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAGGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	203	0.0049	-36	c.-47 others(47): Show c.-4797_-4762delCCCTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TT	BCLAF3	ENSG00000173681.17	transcript	ENST00000379682.9	protein_coding		4574		chrX	TogoVar
BCORL1_chrX_129977635_130063071	130057651	GGAAAAAA others(29): Show GGAAAAAAAAAAAGCCAGTTTGAGGATGGGACAATCT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0039 a0001c0001t0011g0039	1	201	0.0050	-36	c.15 others(47): Show c.1517_*1552delAAAAAAAAAAAGCCAGTTTGAGGATGGGACAATC TG	BCORL1	ENSG00000085185.16	transcript	ENST00000540052.6	protein_coding	14/14	1517	INFO_REALIGN_3_PRIME	chrX	TogoVar
BCOR_chrX_40046251_40102958	40046522	TTATATAT others(29): Show TTATATATATAAATATATATATATATATGTATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp2 HG03540.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0119 a0001c0001t0004g0055 a0001c0001t0001g0119 a0001c0001t0004g0055	2	182	0.0110	-36	c.55 others(47): Show c.5551_*5586delTATATATACATATATATATATATATTTATATATA TA	BCOR	ENSG00000183337.18	transcript	ENST00000378444.9	protein_coding		4728		chrX	TogoVar
BDKRB2_chr14_96199839_96249164	96247454	ACATGCCT others(29): Show ACATGCCTTTTGTGTCTAGCTCCTTTTACCTCCTAAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0021 a0001c0001t0006g0021	1	434	0.0023	-36	c.59 others(47): Show c.5951_*5986delCATGCCTTTTGTGTCTAGCTCCTTTTACCTCCTA AC	BDKRB2	ENSG00000168398.7	transcript	ENST00000554311.2	protein_coding		3291		chr14	TogoVar
BEND3_chr6_107060182_107120515	107073197	GTATGTAT others(29): Show GTATGTATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01346.hp2 HG03490.hp2 others(10): Show HG01175.hp2 HG01346.hp2 HG03490.hp2 HG03492.hp1 HG03654.hp1 HG03942.hp2 NA18940.hp2 NA18944.hp2 NA18961.hp2 NA18963.hp1 NA18964.hp1 NA19012.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 others(4): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0001t0021 a0001c0001t0028 a0001c0001t0056 a0001c0007t0002	a0001c0001t0002g0270 a0001c0001t0005g0100 a0001c0001t0005g0104 others(10): Show a0001c0001t0002g0270 a0001c0001t0005g0100 a0001c0001t0005g0104 a0001c0001t0005g0174 a0001c0001t0005g0184 a0001c0001t0005g0249 a0001c0001t0005g0310 a0001c0001t0010g0271 a0001c0001t0021g0216 a0001c0001t0028g0103 a0001c0001t0056g0348 a0001c0007t0002g0053 a0001c0007t0002g0116	13	181	0.0718	-36	c.241 others(53): Show c.241-2283_241-2248delTATATATATATATATATATATATATATA TATACATA	BEND3	ENSG00000178409.14	transcript	ENST00000369042.6	protein_coding	3/3			chr6	TogoVar
BEND3_chr6_107060182_107120515	107073201	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA19083.hp1 NA19090.hp2 NA18980.hp1 NA19083.hp1 NA19090.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0004 a0001c0003t0057 a0001c0002t0001 a0001c0003t0004 a0001c0003t0057	a0001c0002t0001g0101 a0001c0003t0004g0213 a0001c0003t0057g0338 a0001c0002t0001g0101 a0001c0003t0004g0213 a0001c0003t0057g0338	3	225	0.0133	-36	c.241 others(53): Show c.241-2287_241-2252delTATATATATATATATATATATATATATA TATATATA	BEND3	ENSG00000178409.14	transcript	ENST00000369042.6	protein_coding	3/3			chr6	TogoVar
BEND3_chr6_107060182_107120515	107073229	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01168.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0294 a0001c0001t0005g0296 a0001c0001t0005g0294 a0001c0001t0005g0296	2	366	0.0055	-36	c.241 others(53): Show c.241-2315_241-2280delCATATATATATATATATATATATATATA TATATATA	BEND3	ENSG00000178409.14	transcript	ENST00000369042.6	protein_coding	3/3			chr6	TogoVar
BET1L_chr11_197924_212399	205218	TAGGTAAG others(29): Show TAGGTAAGTCCTCTGGAGCCCAAAACACCAGGCAGGG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0030 a0001c0001t0024g0030	1	400	0.0025	-36	c.48 others(43): Show c.48_*83delCCCTGCCTGGTGTTTTGGGCTCCAGAGGACTTACCT	BET1L	ENSG00000177951.18	transcript	ENST00000382762.8	protein_coding	4/4	48		chr11	TogoVar
BEX5_chrX_102148712_102160977	102158102	TTTCTTCT others(29): Show TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	302	0.0033	-36	c.-23 others(47): Show c.-2384_-2349delGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AA	BEX5	ENSG00000184515.11	transcript	ENST00000333643.4	protein_coding		2126		chrX	TogoVar
BEX5_chrX_102148712_102160977	102158123	CTTCTTCT others(29): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTATTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG01517.hp1 HG01515.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	321	0.0062	-36	c.-24 others(47): Show c.-2405_-2370delTAATAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AA	BEX5	ENSG00000184515.11	transcript	ENST00000333643.4	protein_coding		2147		chrX	TogoVar
BEX5_chrX_102148712_102160977	102158126	CTTCTTCT others(29): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTATTATTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG02293.hp1 HG01070.hp2 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	322	0.0062	-36	c.-24 others(47): Show c.-2408_-2373delTAATAATAAGAAGAAGAAGAAGAAGAAGAAGAAG AA	BEX5	ENSG00000184515.11	transcript	ENST00000333643.4	protein_coding		2150		chrX	TogoVar
BEX5_chrX_102148712_102160977	102158129	CTTCTTCT others(29): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTATTATTATTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01981.hp1 HG01081.hp2 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	321	0.0062	-36	c.-24 others(47): Show c.-2411_-2376delTAATAATAATAAGAAGAAGAAGAAGAAGAAGAAG AA	BEX5	ENSG00000184515.11	transcript	ENST00000333643.4	protein_coding		2153		chrX	TogoVar
BEX5_chrX_102148712_102160977	102158132	CTTCTTCT others(29): Show CTTCTTCTTCTTCTTCTTCTTCTTATTATTATTATTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	317	0.0032	-36	c.-24 others(47): Show c.-2414_-2379delTAATAATAATAATAAGAAGAAGAAGAAGAAGAAG AA	BEX5	ENSG00000184515.11	transcript	ENST00000333643.4	protein_coding		2156		chrX	TogoVar
BEX5_chrX_102148712_102160977	102158141	CTTCTTCT others(29): Show CTTCTTCTTCTTCTTATTATTATTATTATTATTATTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	301	0.0033	-36	c.-24 others(47): Show c.-2423_-2388delTAATAATAATAATAATAATAATAAGAAGAAGAAG AA	BEX5	ENSG00000184515.11	transcript	ENST00000333643.4	protein_coding		2165		chrX	TogoVar
BFSP2_chr3_133395056_133480208	133446570	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0054 a0001c0002t0001g0054	1	30	0.0333	-36	c.490 others(51): Show c.490-712_490-677delTATATATATATATATATATATATATATATA TATATA	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BICD1_chr12_32101847_32388633	32275694	GCCGCTGA others(29): Show GCCGCTGACTCCCATCCCTCCAGATCCGGCAGGGTGT	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02622.hp1 HG02109.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0210 a0001c0001t0018g0224 a0001c0001t0018g0210 a0001c0001t0018g0224	2	288	0.0069	-36	c.427 others(55): Show c.427-18293_427-18258delACTCCCATCCCTCCAGATCCGGCAGG GTGTCCGCTG	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICRAL_chr6_42777052_42873556	42845195	GTTTTTTT others(29): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01175.hp2 HG02145.hp2 others(3): Show HG00642.hp1 HG01175.hp2 HG02145.hp2 HG02895.hp2 HG02970.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0024 a0001c0001t0001 a0001c0001t0002 a0001c0001t0024	a0001c0001t0001g0068 a0001c0001t0001g0119 a0001c0001t0001g0231 others(3): Show a0001c0001t0001g0068 a0001c0001t0001g0119 a0001c0001t0001g0231 a0001c0001t0002g0165 a0001c0001t0002g0266 a0001c0001t0024g0116	6	12	0.5000	-36	c.184 others(55): Show c.1840-6879_1840-6844delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
BIN2_chr12_51276038_51329174	51295577	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00609.hp1 HG01169.hp2 others(25): Show HG00408.hp2 HG00609.hp1 HG01169.hp2 HG02572.hp2 HG03130.hp1 HG03139.hp2 HG03225.hp1 HG03516.hp1 HG03579.hp1 NA18522.hp1 NA18612.hp2 NA18943.hp2 NA18944.hp1 NA18946.hp2 NA18953.hp1 NA18961.hp1 NA18975.hp2 NA18982.hp2 NA18999.hp2 NA19007.hp2 NA19030.hp1 NA19065.hp1 NA19066.hp2 NA19074.hp2 NA19077.hp1 NA19087.hp2 NA19090.hp2 NA19091.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0008	a0001c0001 a0002c0002 a0002c0011 others(3): Show a0001c0001 a0002c0002 a0002c0011 a0002c0012 a0004c0005 a0008c0015	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0011t0001 a0002c0012t0001 a0004c0005t0001 a0008c0015t0001	a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0002g0224 others(22): Show a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0002g0224 a0001c0001t0002g0230 a0002c0002t0001g0003 a0002c0002t0001g0059 a0002c0002t0001g0067 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0083 a0002c0002t0001g0087 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0011t0001g0084 a0002c0012t0001g0077 a0004c0005t0001g0060 a0004c0005t0001g0061 a0008c0015t0001g0154	28	235	0.1191	-36	c.761 others(51): Show c.761+183_761+218delATATATATATATATATATATATATATATAT ATATAT	BIN2	ENSG00000110934.13	transcript	ENST00000615107.6	protein_coding	9/12			chr12	TogoVar

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