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
ANKFN1_chr17_56148475_56522016	56467769	AAGAAAGA others(38): Show AAGAAAGAAAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0005 a0005	a0005c0029 a0005c0029	a0005c0029t0021 a0005c0029t0021	a0005c0029t0021g0067 a0005c0029t0021g0067	1	82	0.0122	-45	c.177 others(64): Show c.1773+1200_1773+1244delGAAAGAAAGAAAGAAAGAAAGAAGAA AGAAAGAAAGAAAGAAAGA	ANKFN1	ENSG00000153930.13	transcript	ENST00000682825.1	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr17	TogoVar
ANKRD11_chr16_89262630_89495561	89299391	GTGGGGTC others(38): Show GTGGGGTCTGTGCCCTGTGTGGGGTGCCTGCCCTGTGTGGGATGCA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00544.hp1 others(40): Show HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00609.hp1 HG00673.hp1 HG01257.hp1 HG01258.hp2 HG01934.hp2 HG01943.hp1 HG02015.hp1 HG02071.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02165.hp1 HG02273.hp2 HG02300.hp2 HG02523.hp1 HG02965.hp2 HG03139.hp2 HG03471.hp1 HG03491.hp2 HG03710.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp1 NA18522.hp1 NA18939.hp1 NA18943.hp2 NA18944.hp1 NA18952.hp2 NA18953.hp2 NA18959.hp1 NA18962.hp1 NA18962.hp2 NA18969.hp2 NA18990.hp2 NA18993.hp1 NA19010.hp2 NA19012.hp1 NA19077.hp2 NA19080.hp2	a0002 a0004 a0006 others(5): Show a0002 a0004 a0006 a0008 a0018 a0020 a0022 a0025	a0002c0002 a0004c0004 a0004c0034 others(6): Show a0002c0002 a0004c0004 a0004c0034 a0006c0010 a0008c0021 a0018c0045 a0020c0035 a0022c0036 a0025c0046	a0002c0002t0001 a0002c0002t0002 a0004c0004t0001 others(7): Show a0002c0002t0001 a0002c0002t0002 a0004c0004t0001 a0004c0034t0001 a0006c0010t0001 a0008c0021t0002 a0018c0045t0001 a0020c0035t0001 a0022c0036t0001 a0025c0046t0002	a0002c0002t0001g0126 a0002c0002t0002g0137 a0002c0002t0002g0217 others(40): Show a0002c0002t0001g0126 a0002c0002t0002g0137 a0002c0002t0002g0217 a0004c0004t0001g0004 a0004c0004t0001g0009 a0004c0004t0001g0094 a0004c0004t0001g0095 a0004c0004t0001g0096 a0004c0004t0001g0100 a0004c0004t0001g0150 a0004c0004t0001g0152 a0004c0004t0001g0163 a0004c0004t0001g0202 a0004c0004t0001g0206 a0004c0004t0001g0207 a0004c0004t0001g0209 a0004c0004t0001g0211 a0004c0004t0001g0214 a0004c0004t0001g0218 a0004c0004t0001g0234 a0004c0004t0001g0251 a0004c0004t0001g0252 a0004c0004t0001g0253 a0004c0004t0001g0254 a0004c0004t0001g0256 a0004c0004t0001g0257 a0004c0004t0001g0259 a0004c0004t0001g0261 a0004c0004t0001g0279 a0004c0004t0001g0288 a0004c0004t0001g0290 a0004c0004t0001g0291 a0004c0004t0001g0293 a0004c0034t0001g0035 a0006c0010t0001g0187 a0006c0010t0001g0226 a0006c0010t0001g0228 a0008c0021t0002g0192 a0008c0021t0002g0267 a0018c0045t0001g0205 a0020c0035t0001g0255 a0022c0036t0001g0208 a0025c0046t0002g0127	43	308	0.1396	-45	c.226 others(62): Show c.226+5770_226+5814delTGCATCCCACACAGGGCAGGCACCCCAC ACAGGGCACAGACCCCA	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	4/12			chr16	TogoVar
ANKRD31_chr5_75063297_75241878	75206231	AAAAAAAA others(38): Show AAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0172 a0005c0008t0001g0172	1	254	0.0039	-45	c.403 others(60): Show c.403+135_403+179delATATATATATATATATATATATATATATTT TTTTTTTTTTTTTTT	ANKRD31	ENSG00000145700.10	transcript	ENST00000506364.6	protein_coding	5/25			chr5	TogoVar
ANKRD31_chr5_75063297_75241878	75206233	AAAAAAAA others(38): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01433.hp2 HG02818.hp1 others(1): Show HG00280.hp1 HG01433.hp2 HG02818.hp1 NA18978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0055 a0001c0002t0001g0064 a0001c0002t0001g0001 a0001c0002t0001g0055 a0001c0002t0001g0064	4	307	0.0130	-45	c.403 others(60): Show c.403+133_403+177delATATATATATATATATATATATATATATAT TTTTTTTTTTTTTTT	ANKRD31	ENSG00000145700.10	transcript	ENST00000506364.6	protein_coding	5/25			chr5	TogoVar
ANKRD31_chr5_75063297_75241878	75206235	AAAAAAAA others(38): Show AAAAAAAAAAAAAAATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 NA20300.hp2 HG01243.hp1 NA20300.hp2	a0001 a0001	a0001c0009 a0001c0021 a0001c0009 a0001c0021	a0001c0009t0001 a0001c0021t0001 a0001c0009t0001 a0001c0021t0001	a0001c0009t0001g0311 a0001c0021t0001g0310 a0001c0009t0001g0311 a0001c0021t0001g0310	2	312	0.0064	-45	c.403 others(60): Show c.403+131_403+175delATATATATATATATATATATATATATATAT ATTTTTTTTTTTTTT	ANKRD31	ENSG00000145700.10	transcript	ENST00000506364.6	protein_coding	5/25			chr5	TogoVar
ANKUB1_chr3_149756100_149797554	149766817	AAGCAGCA others(38): Show AAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA18939.hp2 NA18972.hp1 others(1): Show HG00558.hp1 NA18939.hp2 NA18972.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0174 a0001c0001t0001g0218 others(1): Show a0001c0001t0001g0108 a0001c0001t0001g0174 a0001c0001t0001g0218 a0001c0001t0001g0220	4	45	0.0889	-45	c.150 others(62): Show c.1505+295_1505+339delGCTGCTGCTGCTGCTGCTGCTGCTGCTG CTGCTGCTGCTGCTGCT	ANKUB1	ENSG00000206199.11	transcript	ENST00000446160.7	protein_coding	5/5			chr3	TogoVar
ANO2_chr12_5557655_5950259	5902053	TTCCTACA others(38): Show TTCCTACAGTCAGTTTATAGGCTAGATTACACTCAGAGATGTATAG	T T	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0109 a0003c0004t0001g0109	1	160	0.0063	-45	c.534 others(64): Show c.534+18942_534+18986delCTATACATCTCTGAGTGTAATCTAGC CTATAAACTGACTGTAGGA	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	3/24			chr12	TogoVar
ANO3_chr11_26327130_26668289	26359556	CTCTATGC others(38): Show CTCTATGCAGCTGTCTCCTTTCTGGTAACTCTATCCTGCAAACACT	C C	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0182 a0001c0002t0002g0182	1	188	0.0053	-45	c.46+ others(62): Show c.46+27236_46+27280delTCTATGCAGCTGTCTCCTTTCTGGTAAC TCTATCCTGCAAACACT	ANO3	ENSG00000134343.14	transcript	ENST00000256737.8	protein_coding	1/26			chr11	TogoVar
ANTXR2_chr4_79896146_80078229	80015888	AAGGAAAG others(38): Show AAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAAAGGAAAGG	A A	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0025 a0001c0001t0039g0025	1	266	0.0038	-45	c.945 others(62): Show c.945+2965_945+3009delCCTTTCCTTTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCT	ANTXR2	ENSG00000163297.18	transcript	ENST00000403729.7	protein_coding	11/16			chr4	TogoVar
ANTXR2_chr4_79896146_80078229	80015893	AAGGAAAG others(38): Show AAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAAAGGAAAGGAAAGG	A A	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02056.hp2 HG03688.hp2 others(14): Show HG02027.hp1 HG02056.hp2 HG03688.hp2 HG04184.hp1 NA18943.hp1 NA18948.hp2 NA18953.hp2 NA18963.hp2 NA18969.hp2 NA18974.hp1 NA18977.hp1 NA18986.hp2 NA18990.hp2 NA19000.hp2 NA19009.hp2 NA19082.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0022 a0001c0001t0066 a0001c0001t0081	a0001c0001t0002g0211 a0001c0001t0002g0218 a0001c0001t0002g0222 others(14): Show a0001c0001t0002g0211 a0001c0001t0002g0218 a0001c0001t0002g0222 a0001c0001t0002g0238 a0001c0001t0002g0243 a0001c0001t0002g0246 a0001c0001t0003g0065 a0001c0001t0003g0068 a0001c0001t0003g0119 a0001c0001t0003g0145 a0001c0001t0006g0175 a0001c0001t0006g0177 a0001c0001t0006g0178 a0001c0001t0006g0181 a0001c0001t0022g0135 a0001c0001t0066g0179 a0001c0001t0081g0261	17	218	0.0780	-45	c.945 others(62): Show c.945+2960_945+3004delCCTTTCCTTTCCTTTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCT	ANTXR2	ENSG00000163297.18	transcript	ENST00000403729.7	protein_coding	11/16			chr4	TogoVar
ANTXR2_chr4_79896146_80078229	80015898	AAGGAAAG others(38): Show AAGGAAAGGAAAGGAAAGGAAAGGAAAAAGGAAAGGAAAGGAAAGG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01978.hp2 HG02451.hp1 others(2): Show HG00621.hp1 HG01978.hp2 HG02451.hp1 HG04199.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 others(2): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0028	a0001c0001t0002g0235 a0001c0001t0005g0048 a0001c0001t0006g0180 others(2): Show a0001c0001t0002g0235 a0001c0001t0005g0048 a0001c0001t0006g0180 a0001c0001t0010g0008 a0001c0001t0028g0071	5	261	0.0192	-45	c.945 others(62): Show c.945+2955_945+2999delCCTTTCCTTTCCTTTCCTTTTTCCTTTC CTTTCCTTTCCTTTCCT	ANTXR2	ENSG00000163297.18	transcript	ENST00000403729.7	protein_coding	11/16			chr4	TogoVar
AP3D1_chr19_2095988_2156566	2135983	GAGACTCC others(38): Show GAGACTCCCGCCCAGGCCCCTCCCGCTACACGGCCACGACCCAAGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0278 a0001c0002t0001g0278	1	404	0.0025	-45	c.354 others(61): Show c.354+983_354+1027delTCTTGGGTCGTGGCCGTGTAGCGGGAGGG GCCTGGGCGGGAGTCT	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	4/31			chr19	TogoVar
APOB_chr2_20996429_21049073	21001159	ATTTAATT others(38): Show ATTTAATTATAAATATTTTAATTATAAAATATTTAATTATAAATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02970.hp1 HG03540.hp2 HG02809.hp2 HG02970.hp1 HG03540.hp2	a0002 a0003 a0002 a0003	a0002c0016 a0003c0005 a0002c0016 a0003c0005	a0002c0016t0001 a0003c0005t0001 a0002c0016t0001 a0003c0005t0001	a0002c0016t0001g0055 a0002c0016t0001g0056 a0003c0005t0001g0003 a0002c0016t0001g0055 a0002c0016t0001g0056 a0003c0005t0001g0003	3	347	0.0086	-45	c.52 others(54): Show c.526_*570delATATTTATAATTAAATATTTTATAATTAAAATATTT ATAATTAAA	APOB	ENSG00000084674.15	transcript	ENST00000233242.5	protein_coding		269		chr2	TogoVar
APOH_chr17_66207033_66234415	66224661	GGGAAGGG others(38): Show GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAAGGAAAGGAAA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02809.hp1 HG03098.hp2 HG02258.hp1 HG02809.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316	3	380	0.0079	-45	c.339 others(60): Show c.339-932_339-888delTTTCCTTTCCTTTCCCTTCCCTTCCCTTCC CTTCCCTTCCCTTCC	APOH	ENSG00000091583.11	transcript	ENST00000205948.11	protein_coding	3/7			chr17	TogoVar
APOH_chr17_66207033_66234415	66224681	GGGAAGGG others(38): Show GGGAAGGGAAGGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA	G G	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA18906.hp1 HG03139.hp1 NA18906.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0068 a0002c0002t0001g0133 a0002c0002t0001g0068 a0002c0002t0001g0133	2	304	0.0066	-45	c.339 others(60): Show c.339-952_339-908delTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCCTTCCCTTCC	APOH	ENSG00000091583.11	transcript	ENST00000205948.11	protein_coding	3/7			chr17	TogoVar
ARC_chr8_142606049_142619479	142618715	GGCAATGC others(38): Show GGCAATGCCAAGGCCTCGAGGGGTGGCCGGGAGCTCCGGGGCTCCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG02723.hp2 HG06807.hp2 HG01192.hp1 HG02723.hp2 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0001c0001t0029 a0002c0003t0002 a0001c0001t0002 a0001c0001t0029 a0002c0003t0002	a0001c0001t0002g0002 a0001c0001t0029g0045 a0002c0003t0002g0018 a0001c0001t0002g0002 a0001c0001t0029g0045 a0002c0003t0002g0018	3	418	0.0072	-45	c.-44 others(56): Show c.-4489_-4445delTGGAGCCCCGGAGCTCCCGGCCACCCCTCGAGGC CTTGGCATTGC	ARC	ENSG00000198576.4	transcript	ENST00000356613.4	protein_coding		4237		chr8	TogoVar
ARFRP1_chr20_63693647_63712976	63693687	ACCACCAC others(38): Show ACCACCACCACCACCACCTCCACCACCACCACCTGCACCACCACCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	221	0.0045	-45	c.67 others(56): Show c.6711_*6755delAGGTGGTGGTGCAGGTGGTGGTGGTGGAGGTGGT GGTGGTGGTGG	ARFRP1	ENSG00000101246.20	transcript	ENST00000622789.5	protein_coding		4959		chr20	TogoVar
ARHGAP15_chr2_143124419_143773352	143153834	TTCTTCTT others(38): Show TTCTTCTTCTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCC	T T	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	122	0.0082	-45	c.-14 others(62): Show c.-14-1640_-14-1596delTTCTTCTTCCTCCTCCTCCTCCTCCTCC TCCTCCTCTTCCTCCTC	ARHGAP15	ENSG00000075884.14	transcript	ENST00000295095.11	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ARHGAP17_chr16_24914389_25020369	25009878	ACCAAGCC others(38): Show ACCAAGCCCAGCAGCTTCATAAGCACAGAAGATGTTTAATAAACAT	A A	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0044 a0001c0002t0001g0044	1	238	0.0042	-45	c.53+ others(60): Show c.53+5286_53+5330delATGTTTATTAAACATCTTCTGTGCTTATGA AGCTGCTGGGCTTGG	ARHGAP17	ENSG00000140750.17	transcript	ENST00000289968.11	protein_coding	1/19			chr16	TogoVar
ARHGAP21_chr10_24578614_24728887	24656893	GGGGTCGG others(38): Show GGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0277 a0003c0003t0001g0277	1	350	0.0029	-45	c.268 others(64): Show c.268+10047_268+10091delACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCCGACCC	ARHGAP21	ENSG00000107863.20	transcript	ENST00000396432.7	protein_coding	4/25			chr10	TogoVar
ARHGEF10_chr8_1818926_1963641	1849556	AGCAAATG others(38): Show AGCAAATGCTGAGGAGGGCGTGGGGCCAGCTGCGTGGACACAGACG	A A	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA19065.hp2 NA19074.hp2 NA18952.hp2 NA19065.hp2 NA19074.hp2	a0001 a0001	a0001c0003 a0001c0009 a0001c0143 a0001c0003 a0001c0009 a0001c0143	a0001c0003t0001 a0001c0009t0002 a0001c0143t0001 a0001c0003t0001 a0001c0009t0002 a0001c0143t0001	a0001c0003t0001g0030 a0001c0009t0002g0029 a0001c0143t0001g0028 a0001c0003t0001g0030 a0001c0009t0002g0029 a0001c0143t0001g0028	3	355	0.0085	-45	c.37+ others(60): Show c.37+6146_37+6190delCAGCTGCGTGGACACAGACGGCAAATGCTG AGGAGGGCGTGGGGC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF28_chr5_73621196_73946990	73671710	ATATATAT others(38): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp2 HG04199.hp1 HG04199.hp2	a0005 a0010 a0005 a0010	a0005c0024 a0010c0020 a0005c0024 a0010c0020	a0005c0024t0002 a0010c0020t0002 a0005c0024t0002 a0010c0020t0002	a0005c0024t0002g0064 a0010c0020t0002g0013 a0005c0024t0002g0064 a0010c0020t0002g0013	2	157	0.0127	-45	c.-11 others(64): Show c.-11-13129_-11-13085delATATATATATATATATATATATATAT ATTTTTTTTTTTTTTTTTT	ARHGEF28	ENSG00000214944.10	transcript	ENST00000513042.7	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
ARHGEF28_chr5_73621196_73946990	73671714	ATATATAT others(38): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0002 a0008c0011t0002	a0008c0011t0002g0142 a0008c0011t0002g0142	1	133	0.0075	-45	c.-11 others(64): Show c.-11-13125_-11-13081delATATATATATATATATATATATATTT TTTTTTTTTTTTTTTTTTT	ARHGEF28	ENSG00000214944.10	transcript	ENST00000513042.7	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
ARHGEF28_chr5_73621196_73946990	73737439	CTTCTTTT others(38): Show CTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02965.hp1 HG03139.hp2 others(2): Show HG02145.hp1 HG02965.hp1 HG03139.hp2 HG04115.hp1 NA19030.hp1	a0002 a0003 a0026 others(1): Show a0002 a0003 a0026 a0038	a0002c0003 a0003c0005 a0003c0007 others(2): Show a0002c0003 a0003c0005 a0003c0007 a0026c0055 a0038c0051	a0002c0003t0001 a0003c0005t0001 a0003c0007t0005 others(2): Show a0002c0003t0001 a0003c0005t0001 a0003c0007t0005 a0026c0055t0001 a0038c0051t0001	a0002c0003t0001g0128 a0003c0005t0001g0043 a0003c0007t0005g0151 others(2): Show a0002c0003t0001g0128 a0003c0005t0001g0043 a0003c0007t0005g0151 a0026c0055t0001g0135 a0038c0051t0001g0150	5	24	0.2083	-45	c.34- others(62): Show c.34-12355_34-12311delCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTT	ARHGEF28	ENSG00000214944.10	transcript	ENST00000513042.7	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
ARPP19_chr15_52542045_52574030	52544126	TTCTTTCT others(38): Show TTCTTTCTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTCTCTCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG03579.hp1 NA19240.hp2 others(1): Show HG02723.hp1 HG03579.hp1 NA19240.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0020 a0001c0001t0061 a0001c0001t0005 a0001c0001t0020 a0001c0001t0061	a0001c0001t0005g0235 a0001c0001t0020g0288 a0001c0001t0020g0295 others(1): Show a0001c0001t0005g0235 a0001c0001t0020g0288 a0001c0001t0020g0295 a0001c0001t0061g0241	4	420	0.0095	-45	c.77 others(56): Show c.7763_*7807delGAGAGAGAGAAAGAAAGAAAAGAAAGAAAGAAAG AAAGAGAAAGA	ARPP19	ENSG00000128989.11	transcript	ENST00000249822.9	protein_coding		2918		chr15	TogoVar
ART1_chr11_3640128_3669416	3663089	ATCATCTC others(38): Show ATCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATC	A A	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0052 a0003c0003t0001g0052	1	180	0.0056	-45	c.887 others(60): Show c.887-992_887-948delTCATCTCATCTCATCTCATCTCATCTCATC TCATCTCATCTCATC	ART1	ENSG00000129744.3	transcript	ENST00000250693.2	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
ASTN2_chr9_116418112_117420057	117060325	AGAAAGAA others(38): Show AGAAAGAAAGAAAGAAAGAGAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0096 a0001c0001t0005g0096	1	74	0.0135	-45	c.127 others(66): Show c.1277-20405_1277-20361delCTTTCTTTCTTTCTTTCTTTCTTT CTCTCTTTCTTTCTTTCTTTC	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	5/22			chr9	TogoVar
ATOSA_chr15_52576321_52684388	52597165	GTTCTATT others(38): Show GTTCTATTCTATTCTATTCTATTCTATTCTATTCTATTCTATTCTA	G G	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0236 a0001c0001t0005g0236	1	9	0.1111	-45	c.264 others(64): Show c.2649+2917_2649+2961delTAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAA	ATOSA	ENSG00000047346.13	transcript	ENST00000619572.5	protein_coding	9/12			chr15	TogoVar
ATP11A_chr13_112685038_112892168	112724141	ACCCCCTT others(38): Show ACCCCCTTTGCCCCTATTGCCCCCTTCTCCCCCATCGCCCTCTTCG	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03540.hp2 HG02895.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0157 a0001c0001t0023g0158 a0001c0001t0023g0157 a0001c0001t0023g0158	2	248	0.0081	-45	c.39+ others(62): Show c.39+33692_39+33736delTTTGCCCCTATTGCCCCCTTCTCCCCCA TCGCCCTCTTCGCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP2A3_chr17_3918873_3969437	3927430	CTGCAGGT others(38): Show CTGCAGGTGAGTGAGTGTGGTCAAGGACGGCCCAGAGGCCTGGCTG	C C	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0179 a0001c0001t0035g0179	1	330	0.0030	-45	c.298 others(64): Show c.2980+1188_2980+1232delCAGCCAGGCCTCTGGGCCGTCCTTGA CCACACTCACTCACCTGCA	ATP2A3	ENSG00000074370.18	transcript	ENST00000397041.8	protein_coding	20/20			chr17	TogoVar
ATP2B1_chr12_89583049_89713838	89707788	AGAACCAG others(38): Show AGAACCAGGGGTCGCTAACCAGCTTAGCCACAGGATTCTCCCGCAG	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0003 a0001c0001t0013g0003	1	330	0.0030	-45	c.-22 others(62): Show c.-222+763_-222+807delCTGCGGGAGAATCCTGTGGCTAAGCTGG TTAGCGACCCCTGGTTC	ATP2B1	ENSG00000070961.17	transcript	ENST00000428670.8	protein_coding	1/20			chr12	TogoVar
ATP6V1D_chr14_67332872_67364804	67355355	CTGACATT others(38): Show CTGACATTTCTGTTCTTGCTGCCATATGCCAGATACAATTTAATAA	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	346	0.0029	-45	c.42- others(60): Show c.42-2360_42-2316delTTATTAAATTGTATCTGGCATATGGCAGCA AGAACAGAAATGTCA	ATP6V1D	ENSG00000100554.12	transcript	ENST00000216442.12	protein_coding	1/8			chr14	TogoVar
ATP6V1H_chr8_53710543_53848245	53755700	ATATATAT others(38): Show ATATATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02615.hp2 HG03225.hp2 others(3): Show HG02559.hp2 HG02615.hp2 HG03225.hp2 NA19030.hp1 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 others(3): Show a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248	6	282	0.0213	-45	c.127 others(62): Show c.1277+810_1277+854delATATATATATATATATATATATATATAT ATATATATATATATATA	ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	12/13			chr8	TogoVar
ATP8A2_chr13_25366974_26030851	25531388	ATATATAT others(38): Show ATATATATGATTATATATATGATTATATATATGATATATATATGAT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02723.hp2 HG02055.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0003 a0001c0007t0007 a0001c0001t0003 a0001c0007t0007	a0001c0001t0003g0093 a0001c0007t0007g0094 a0001c0001t0003g0093 a0001c0007t0007g0094	2	111	0.0180	-45	c.420 others(60): Show c.420+736_420+780delGATTATATATATGATTATATATATGATATA TATATGATTATATAT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	4/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATRX_chrX_77499880_77791216	77583989	TATACCAA others(38): Show TATACCAACAGCAAACAACCTGAAAGAGAAATAAAGAAACTTACAA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0087 a0001c0001t0010g0087	1	216	0.0046	-45	c.621 others(64): Show c.6217+5800_6217+5844delTTGTAAGTTTCTTTATTTCTCTTTCA GGTTGTTTGCTGTTGGTAT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	27/34			chrX	TogoVar
AVPI1_chr10_97672424_97692241	97691487	GCCTGACC others(38): Show GCCTGACCAACATGGTGAAATGCCATCTCTACTAAAAATACAAAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	444	0.0023	-45	c.-47 others(56): Show c.-4777_-4733delTTTTTGTATTTTTAGTAGAGATGGCATTTCACCA TGTTGGTCAGG	AVPI1	ENSG00000119986.7	transcript	ENST00000370626.4	protein_coding		4247		chr10	TogoVar
BATF2_chr11_64982945_65001971	64983532	TTTTATAT others(38): Show TTTTATATTTTATTTTATATTTTATTTTATATTTTATTTTATTTTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00558.hp2 HG00673.hp1 others(35): Show HG00423.hp1 HG00558.hp2 HG00673.hp1 HG01074.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01346.hp2 HG01433.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG02015.hp2 HG02132.hp1 HG02135.hp2 HG02523.hp2 HG02683.hp1 HG02896.hp1 HG03239.hp1 HG04199.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18939.hp1 NA18960.hp2 NA18966.hp1 NA18970.hp1 NA18994.hp2 NA19009.hp2 NA19054.hp2 NA19055.hp2 NA19062.hp2 NA19074.hp1 NA19079.hp2 NA19087.hp2 NA20752.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0018 others(8): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0070 a0002c0002t0001g0015	38	401	0.0948	-45	c.55 others(56): Show c.5552_*5596delTAAAATAAAATAAAATATAAAATAAAATATAAAA TAAAATATAAA	BATF2	ENSG00000168062.10	transcript	ENST00000301887.9	protein_coding		4412		chr11	TogoVar
BAZ2B_chr2_159313979_159621548	159325072	ATATATTA others(38): Show ATATATTATATATATATATATTATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02809.hp1 NA18952.hp2 others(1): Show HG01081.hp2 HG02809.hp1 NA18952.hp2 NA19082.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0003c0003t0002 a0002c0002t0001 a0003c0003t0001 a0003c0003t0002	a0002c0002t0001g0036 a0002c0002t0001g0081 a0003c0003t0001g0014 others(1): Show a0002c0002t0001g0036 a0002c0002t0001g0081 a0003c0003t0001g0014 a0003c0003t0002g0177	4	214	0.0187	-45	c.621 others(62): Show c.6210-163_6210-119delAAATATATATATATATATATATATAATA TATATATATATAATATA	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	35/36			chr2	TogoVar
BCL11A_chr2_60452194_60558654	60467405	GTGATGGT others(38): Show GTGATGGTACTGGTGATGGTGGTGGTGGTAGTGATGGTGGTGGTAA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0068 a0001c0001t0038g0068	1	257	0.0039	-45	c.487 others(62): Show c.487+1282_487+1326delTTACCACCACCATCACTACCACCACCAC CATCACCAGTACCATCA	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BCL11A_chr2_60452194_60558654	60467636	GTGGTGAT others(38): Show GTGGTGATGGTGGTGATGATGGTGATGGTACTGGTGGTGATGGTGA	G G	intron_variant intron_variant	MODIFIER	HG01975.hp1 NA18957.hp2 NA19007.hp2 HG01975.hp1 NA18957.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0001t0006 a0001c0003t0002 a0001c0001t0003 a0001c0001t0006 a0001c0003t0002	a0001c0001t0003g0159 a0001c0001t0006g0245 a0001c0003t0002g0107 a0001c0001t0003g0159 a0001c0001t0006g0245 a0001c0003t0002g0107	3	176	0.0170	-45	c.487 others(62): Show c.487+1051_487+1095delTCACCATCACCACCAGTACCATCACCAT CATCACCACCATCACCA	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BCL6_chr3_187716381_187750468	187719394	TACCACCC others(38): Show TACCACCCCATCCCTTCCAACTACTAAATAGCTCTGCATAATTCTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0188 a0002c0003t0001g0188	1	402	0.0025	-45	c.30 others(56): Show c.3019_*3063delTAGAATTATGCAGAGCTATTTAGTAGTTGGAAGG GATGGGGTGGT	BCL6	ENSG00000113916.18	transcript	ENST00000406870.7	protein_coding		1986		chr3	TogoVar
BCL9_chr1_147536501_147631216	147541074	AGAGAGAG others(38): Show AGAGAGAGAGAAGAGAGAGAGAGAGAAGAGAGAGAGAGAGAGAGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG01081.hp1 HG01099.hp2 others(18): Show HG00423.hp1 HG01081.hp1 HG01099.hp2 HG01175.hp2 HG01981.hp1 HG02056.hp2 HG02071.hp2 HG02083.hp2 HG02698.hp2 HG02738.hp1 HG02896.hp1 HG03017.hp2 HG03209.hp1 HG03831.hp2 HG03942.hp2 NA18522.hp2 NA18972.hp2 NA18974.hp1 NA19064.hp2 NA19077.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0017 a0001c0001t0026 a0001c0001t0029 a0002c0002t0007	a0001c0001t0001g0006 a0001c0001t0001g0061 a0001c0001t0001g0088 others(18): Show a0001c0001t0001g0006 a0001c0001t0001g0061 a0001c0001t0001g0088 a0001c0001t0003g0023 a0001c0001t0004g0012 a0001c0001t0004g0090 a0001c0001t0004g0116 a0001c0001t0004g0117 a0001c0001t0005g0036 a0001c0001t0005g0078 a0001c0001t0005g0079 a0001c0001t0006g0018 a0001c0001t0006g0223 a0001c0001t0007g0010 a0001c0001t0007g0059 a0001c0001t0007g0120 a0001c0001t0011g0148 a0001c0001t0017g0087 a0001c0001t0026g0057 a0001c0001t0029g0135 a0002c0002t0007g0103	21	314	0.0669	-45	c.-10 others(56): Show c.-1077_-1033delGAGAGAGAGAAGAGAGAGAGAGAGAAGAGAGAGA GAGAGAGAGAG	BCL9	ENSG00000116128.12	transcript	ENST00000234739.8	protein_coding		426		chr1	TogoVar
BDKRB2_chr14_96199839_96249164	96243329	AAGGGCTA others(38): Show AAGGGCTAGAACCTGGAGGGCTGGAATCTGGAGAGCTAGAACCTGG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01123.hp2 HG02630.hp1 HG01123.hp2 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0050 a0001c0001t0047 a0001c0001t0050	a0001c0001t0047g0085 a0001c0001t0050g0143 a0001c0001t0047g0085 a0001c0001t0050g0143	2	434	0.0046	-45	c.18 others(56): Show c.1847_*1891delGGAATCTGGAGAGCTAGAACCTGGAGGGCTAGAA CCTGGAGGGCT	BDKRB2	ENSG00000168398.7	transcript	ENST00000554311.2	protein_coding	3/3	1847	INFO_REALIGN_3_PRIME	chr14	TogoVar
BIN1_chr2_127043032_127112154	127075755	GCCCCCCA others(38): Show GCCCCCCACCACCCTCTCCCAGAATGCTCCCGGCCCTCCCAGCTGC	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00558.hp1 HG00621.hp1 others(45): Show HG00423.hp1 HG00558.hp1 HG00621.hp1 HG00639.hp2 HG01070.hp1 HG01081.hp1 HG01255.hp2 HG01261.hp2 HG01884.hp1 HG01891.hp2 HG01943.hp1 HG02015.hp1 HG02155.hp1 HG02257.hp1 HG02273.hp1 HG02559.hp2 HG02622.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02735.hp1 HG02809.hp1 HG02886.hp1 HG02922.hp2 HG03017.hp2 HG03098.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03486.hp2 HG03516.hp2 HG03579.hp1 HG03688.hp2 HG04184.hp1 HG04228.hp2 HG06807.hp1 NA18947.hp1 NA18951.hp2 NA18955.hp1 NA18971.hp2 NA18979.hp1 NA18990.hp1 NA18992.hp1 NA19043.hp2 NA19054.hp1 NA19055.hp2 NA19065.hp2 NA20300.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0001c0011 a0002c0005 a0006c0016	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0003t0001 a0001c0006t0001 a0001c0007t0001 a0001c0011t0001 a0002c0005t0001 a0006c0016t0001	a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 others(45): Show a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0061 a0001c0001t0001g0099 a0001c0001t0001g0173 a0001c0001t0001g0203 a0001c0001t0001g0239 a0001c0001t0001g0247 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0278 a0001c0001t0001g0281 a0001c0001t0001g0291 a0001c0001t0003g0166 a0001c0002t0001g0051 a0001c0002t0001g0064 a0001c0002t0001g0256 a0001c0002t0001g0271 a0001c0002t0001g0285 a0001c0003t0001g0084 a0001c0003t0001g0249 a0001c0003t0001g0254 a0001c0003t0001g0275 a0001c0003t0001g0279 a0001c0003t0001g0282 a0001c0003t0001g0287 a0001c0003t0001g0288 a0001c0006t0001g0224 a0001c0006t0001g0286 a0001c0007t0001g0270 a0001c0007t0001g0274 a0001c0011t0001g0262 a0002c0005t0001g0098 a0006c0016t0001g0089	48	342	0.1404	-45	c.165 others(60): Show c.165+826_165+870delGCAGCTGGGAGGGCCGGGAGCATTCTGGGA GAGGGTGGTGGGGGG	BIN1	ENSG00000136717.15	transcript	ENST00000316724.10	protein_coding	2/18			chr2	TogoVar
BIN2_chr12_51276038_51329174	51295572	AAAAAAAT others(38): Show AAAAAAATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	397	0.0025	-45	c.761 others(60): Show c.761+179_761+223delATATATATATATATATATATATATATATAT ATATATATATTTTTT	BIN2	ENSG00000110934.13	transcript	ENST00000615107.6	protein_coding	9/12			chr12	TogoVar
BIN2_chr12_51276038_51329174	51295578	ATATATAT others(38): Show ATATATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01884.hp1 HG02486.hp2 others(6): Show HG01346.hp1 HG01884.hp1 HG02486.hp2 HG02572.hp1 HG02723.hp1 HG03098.hp1 HG03209.hp2 HG03704.hp1 NA18522.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0003 a0004c0005 a0001c0001 a0003c0003 a0004c0005	a0001c0001t0001 a0001c0001t0006 a0003c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0006 a0003c0003t0001 a0004c0005t0001	a0001c0001t0001g0089 a0001c0001t0001g0261 a0001c0001t0001g0263 others(6): Show a0001c0001t0001g0089 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0272 a0001c0001t0006g0271 a0003c0003t0001g0126 a0003c0003t0001g0264 a0004c0005t0001g0051	9	272	0.0331	-45	c.761 others(60): Show c.761+173_761+217delATATATATATATATATATATATATATATAT ATATATATATATATA	BIN2	ENSG00000110934.13	transcript	ENST00000615107.6	protein_coding	9/12			chr12	TogoVar
BMAL1_chr11_13272790_13392266	13284226	ATGTGTGT others(38): Show ATGTGTGTGTATATATATATATATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG01433.hp1 others(3): Show HG00408.hp2 HG00423.hp1 HG01433.hp1 HG02015.hp1 NA18960.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0254 a0001c0001t0001g0255 others(3): Show a0001c0001t0001g0179 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282	6	311	0.0193	-45	c.-26 others(64): Show c.-263+6305_-263+6349delGTGTGTGTATATATATATATATATAT ATATATATATATATTTTTT	BMAL1	ENSG00000133794.20	transcript	ENST00000403290.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BMP2K_chr4_78771350_78921365	78829767	TTTCTTTT others(38): Show TTTCTTTTCTTTTCTTTTCTTTTCTCTTCTCTTCTCTTCTCTTCTC	T T	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0042 a0001c0001t0011g0042	1	200	0.0050	-45	c.297 others(62): Show c.297+3617_297+3661delTTTCTTTTCTTTTCTTTTCTCTTCTCTT CTCTTCTCTTCTCTTCT	BMP2K	ENSG00000138756.19	transcript	ENST00000502613.3	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMP5_chr6_55748653_55880590	55853138	TAAATAAA others(38): Show TAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00609.hp2 HG00639.hp1 others(32): Show HG00558.hp1 HG00609.hp2 HG00639.hp1 HG01943.hp1 HG01978.hp2 HG02004.hp2 HG02055.hp1 HG02071.hp2 HG02080.hp1 HG02148.hp1 HG02257.hp1 HG02602.hp1 HG02615.hp2 HG02886.hp1 HG03209.hp1 HG03239.hp2 HG03540.hp1 HG03688.hp1 NA18522.hp1 NA18747.hp2 NA18959.hp2 NA18962.hp1 NA18967.hp2 NA18968.hp2 NA18971.hp2 NA18972.hp2 NA18979.hp2 NA18986.hp1 NA18998.hp2 NA19009.hp2 NA19060.hp1 NA19076.hp2 NA19091.hp1 NA20129.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0011 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0010 a0001c0002t0012 a0001c0003t0001 a0001c0003t0004 a0001c0003t0022 a0001c0003t0028 a0001c0011t0005 a0002c0005t0004	a0001c0001t0001g0192 a0001c0001t0002g0172 a0001c0001t0005g0302 others(32): Show a0001c0001t0001g0192 a0001c0001t0002g0172 a0001c0001t0005g0302 a0001c0001t0007g0290 a0001c0001t0007g0303 a0001c0001t0007g0304 a0001c0002t0001g0132 a0001c0002t0002g0054 a0001c0002t0002g0062 a0001c0002t0003g0088 a0001c0002t0003g0089 a0001c0002t0003g0090 a0001c0002t0003g0140 a0001c0002t0010g0032 a0001c0002t0012g0004 a0001c0002t0012g0005 a0001c0002t0012g0006 a0001c0003t0001g0162 a0001c0003t0001g0163 a0001c0003t0001g0170 a0001c0003t0001g0171 a0001c0003t0001g0173 a0001c0003t0001g0174 a0001c0003t0001g0176 a0001c0003t0001g0177 a0001c0003t0001g0184 a0001c0003t0001g0185 a0001c0003t0001g0186 a0001c0003t0001g0187 a0001c0003t0001g0199 a0001c0003t0004g0178 a0001c0003t0022g0175 a0001c0003t0028g0307 a0001c0011t0005g0283 a0002c0005t0004g0147	35	55	0.6364	-45	c.490 others(64): Show c.490+21193_490+21237delTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTT	BMP5	ENSG00000112175.8	transcript	ENST00000370830.4	protein_coding	1/6			chr6	TogoVar
BMP7_chr20_57163753_57271641	57185961	GCTCAATA others(38): Show GCTCAATAAATGCTAGCTCAGGGCAGAGCTTTGCATACCCTAAGTA	G G	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02602.hp1 HG01433.hp2 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0020 a0001c0001t0007g0126 a0001c0001t0007g0020 a0001c0001t0007g0126	2	270	0.0074	-45	c.761 others(62): Show c.761-2087_761-2043delTACTTAGGGTATGCAAAGCTCTGCCCTG AGCTAGCATTTATTGAG	BMP7	ENSG00000101144.13	transcript	ENST00000395863.8	protein_coding	3/6			chr20	TogoVar

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