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
CYP7B1_chr8_64585851_64803737	64686246	GCCCGGCC others(42): Show GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01168.hp2 HG01169.hp2 others(2): Show HG01106.hp1 HG01168.hp2 HG01169.hp2 HG01516.hp1 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0023 a0001c0001t0001 a0001c0001t0023	a0001c0001t0001g0079 a0001c0001t0001g0235 a0001c0001t0001g0236 others(2): Show a0001c0001t0001g0079 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0249 a0001c0001t0023g0248	5	256	0.0195	-49	c.123 others(68): Show c.123-61756_123-61708delTGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGG	CYP7B1	ENSG00000172817.4	transcript	ENST00000310193.4	protein_coding	1/5			chr8	TogoVar
CYP7B1_chr8_64585851_64803737	64686405	GGGGGGGT others(42): Show GGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTT	G G	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01168.hp2 HG01169.hp2 others(3): Show HG01106.hp1 HG01168.hp2 HG01169.hp2 HG01516.hp1 HG02004.hp2 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0023 a0001c0001t0001 a0001c0001t0023	a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0235 others(3): Show a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0249 a0001c0001t0023g0248	6	256	0.0234	-49	c.123 others(68): Show c.123-61915_123-61867delAACCTCCCTCCCGGACGGGGCGGCTG GCCAGGCGGGGGGCTGACCCCCC	CYP7B1	ENSG00000172817.4	transcript	ENST00000310193.4	protein_coding	1/5			chr8	TogoVar
DAGLB_chr7_6404129_6452954	6421309	AGGCAGCG others(42): Show AGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAG	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02083.hp1 NA18942.hp2 others(6): Show HG01099.hp1 HG02083.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18948.hp1 NA18948.hp2 NA19005.hp2 NA19011.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0005 a0001c0002 a0003c0005	a0001c0002t0002 a0003c0005t0001 a0001c0002t0002 a0003c0005t0001	a0001c0002t0002g0103 a0001c0002t0002g0114 a0001c0002t0002g0118 others(6): Show a0001c0002t0002g0103 a0001c0002t0002g0114 a0001c0002t0002g0118 a0001c0002t0002g0150 a0001c0002t0002g0162 a0001c0002t0002g0164 a0001c0002t0002g0168 a0001c0002t0002g0169 a0003c0005t0001g0301	9	291	0.0309	-49	c.121 others(66): Show c.1218+369_1218+417delCTCCCGCGCTGCCTGCGCCTCCCGCGCT GCCTGCGCCTCCCGCGCTGCC	DAGLB	ENSG00000164535.15	transcript	ENST00000297056.11	protein_coding	9/14			chr7	TogoVar
DBNL_chr7_44039702_44074456	44042983	TGTGCATA others(42): Show TGTGCATATATACATATACATATGCATATATAATATATGTATACATATAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02717.hp1 HG02723.hp1 others(6): Show HG02145.hp1 HG02717.hp1 HG02723.hp1 HG02970.hp2 HG03041.hp2 HG03209.hp2 HG03225.hp1 HG06807.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0012 a0002c0003t0020 a0002c0003t0068 a0001c0002t0012 a0002c0003t0020 a0002c0003t0068	a0001c0002t0012g0028 a0001c0002t0012g0117 a0001c0002t0012g0118 others(2): Show a0001c0002t0012g0028 a0001c0002t0012g0117 a0001c0002t0012g0118 a0002c0003t0020g0022 a0002c0003t0068g0022	9	373	0.0241	-49	c.-17 others(60): Show c.-1754_-1706delGTGCATATATACATATACATATGCATATATAATA TATGTATACATATAC	DBNL	ENSG00000136279.21	transcript	ENST00000448521.6	protein_coding		1718		chr7	TogoVar
DCBLD2_chr3_98790941_98906695	98836873	CGACACCC others(42): Show CGACACCCCCACCTCCCTCCCGGAGGGGGCGGCTGGCCGGGCGGGGGGCT	C C	intron_variant intron_variant	MODIFIER	HG02818.hp1 NA18522.hp2 HG02818.hp1 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0303 a0001c0003t0003g0304 a0001c0003t0003g0303 a0001c0003t0003g0304	2	328	0.0061	-49	c.572 others(68): Show c.572-11556_572-11508delAGCCCCCCGCCCGGCCAGCCGCCCCC TCCGGGAGGGAGGTGGGGGTGTC	DCBLD2	ENSG00000057019.16	transcript	ENST00000326840.11	protein_coding	3/15			chr3	TogoVar
DCBLD2_chr3_98790941_98906695	98837202	ACCCCCAC others(42): Show ACCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCAGGGGGCCGACC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00438.hp2 others(111): Show HG00280.hp1 HG00408.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00609.hp2 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01123.hp2 HG01167.hp1 HG01243.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG02040.hp1 HG02055.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02165.hp1 HG02293.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02698.hp1 HG02723.hp2 HG02735.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03654.hp1 HG03669.hp2 HG03704.hp2 HG03834.hp2 HG03927.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp2 NA18747.hp2 NA18939.hp2 NA18949.hp1 NA18950.hp2 NA18955.hp1 NA18959.hp1 NA18963.hp2 NA18964.hp1 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18973.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp2 NA18986.hp1 NA18988.hp2 NA18989.hp2 NA18990.hp2 NA18994.hp1 NA18999.hp2 NA19002.hp1 NA19009.hp1 NA19010.hp2 NA19012.hp1 NA19054.hp2 NA19058.hp2 NA19060.hp2 NA19063.hp2 NA19064.hp2 NA19070.hp1 NA19072.hp2 NA19074.hp2 NA19076.hp2 NA19077.hp2 NA19085.hp1 NA19087.hp2 NA19088.hp1 NA19240.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp1	a0001 a0006 a0010 others(1): Show a0001 a0006 a0010 a0011	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0006c0020 a0010c0016 a0011c0015	a0001c0001t0001 a0001c0001t0011 a0001c0001t0021 others(11): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0021 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0002t0007 a0001c0002t0019 a0001c0002t0032 a0001c0002t0043 a0001c0005t0034 a0006c0020t0042 a0010c0016t0001 a0011c0015t0021	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(106): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0011g0174 a0001c0001t0011g0212 a0001c0001t0011g0247 a0001c0001t0011g0268 a0001c0001t0011g0269 a0001c0001t0011g0274 a0001c0001t0021g0235 a0001c0001t0039g0228 a0001c0001t0040g0198 a0001c0001t0041g0173 a0001c0002t0007g0160 a0001c0002t0007g0162 a0001c0002t0007g0166 a0001c0002t0019g0156 a0001c0002t0019g0157 a0001c0002t0019g0158 a0001c0002t0032g0094 a0001c0002t0043g0161 a0001c0005t0034g0128 a0006c0020t0042g0319 a0010c0016t0001g0197 a0011c0015t0021g0254	114	213	0.5352	-49	c.572 others(68): Show c.572-11885_572-11837delGGTCGGCCCCCTGCCCGGCCAGCCAC CCCGTCCGGGAGGGAGGTGGGGG	DCBLD2	ENSG00000057019.16	transcript	ENST00000326840.11	protein_coding	3/15			chr3	TogoVar
DCBLD2_chr3_98790941_98906695	98837499	GGCTGGCC others(42): Show GGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGATGGGGCA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0034 a0001c0005t0034	a0001c0005t0034g0128 a0001c0005t0034g0128	1	328	0.0030	-49	c.571 others(68): Show c.571+11913_571+11961delTGCCCCATCCGGGAGGGAGGTGGGGG GGTCGGCCCCCCGCCCGGCCAGC	DCBLD2	ENSG00000057019.16	transcript	ENST00000326840.11	protein_coding	3/15			chr3	TogoVar
DCBLD2_chr3_98790941_98906695	98837845	CGGGGCGG others(42): Show CGGGGCGGCTGGCCATGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01069.hp1 HG01071.hp1 others(12): Show HG00099.hp1 HG01069.hp1 HG01071.hp1 HG01167.hp2 HG01169.hp2 HG01256.hp1 HG01516.hp1 HG01891.hp1 HG02273.hp1 HG02300.hp1 HG02698.hp2 HG03209.hp1 HG06807.hp1 NA19030.hp1 NA20300.hp1	a0001 a0009 a0001 a0009	a0001c0002 a0001c0005 a0001c0017 others(1): Show a0001c0002 a0001c0005 a0001c0017 a0009c0021	a0001c0002t0002 a0001c0005t0006 a0001c0005t0034 others(3): Show a0001c0002t0002 a0001c0005t0006 a0001c0005t0034 a0001c0005t0035 a0001c0017t0038 a0009c0021t0036	a0001c0002t0002g0039 a0001c0005t0006g0001 a0001c0005t0006g0129 others(10): Show a0001c0002t0002g0039 a0001c0005t0006g0001 a0001c0005t0006g0129 a0001c0005t0006g0130 a0001c0005t0006g0131 a0001c0005t0006g0132 a0001c0005t0006g0133 a0001c0005t0006g0134 a0001c0005t0006g0135 a0001c0005t0034g0128 a0001c0005t0035g0136 a0001c0017t0038g0144 a0009c0021t0036g0137	15	328	0.0457	-49	c.571 others(68): Show c.571+11567_571+11615delATCCGGGAGGGAGGTGGGGGGGTCAG CCCCCCGCATGGCCAGCCGCCCC	DCBLD2	ENSG00000057019.16	transcript	ENST00000326840.11	protein_coding	3/15			chr3	TogoVar
DDA1_chr19_17304563_17328298	17315257	GTATATAC others(42): Show GTATATACACACACGTGTATATACACACACTATATATATACACACGTGTA	G G	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01433.hp1 HG02083.hp2 others(13): Show HG00673.hp2 HG01433.hp1 HG02083.hp2 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02273.hp1 HG02647.hp1 HG02735.hp1 NA18953.hp1 NA18964.hp1 NA18979.hp1 NA18985.hp1 NA18994.hp2 NA18997.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0031 a0001c0001t0003g0059 others(6): Show a0001c0001t0003g0007 a0001c0001t0003g0031 a0001c0001t0003g0059 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0073 a0001c0001t0003g0077 a0001c0001t0003g0078	16	378	0.0423	-49	c.137 others(64): Show c.137-670_137-622delCACACACGTGTATATACACACACTATATAT ATACACACGTGTATATATA	DDA1	ENSG00000130311.11	transcript	ENST00000359866.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
DDC_chr7_50453442_50570405	50459870	GGGAGGGA others(42): Show GGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02258.hp1 HG02486.hp2 others(2): Show HG02257.hp2 HG02258.hp1 HG02486.hp2 HG02970.hp2 HG02976.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0003 a0004c0005t0005 a0004c0005t0003 a0004c0005t0005	a0004c0005t0003g0282 a0004c0005t0003g0283 a0004c0005t0003g0284 others(2): Show a0004c0005t0003g0282 a0004c0005t0003g0283 a0004c0005t0003g0284 a0004c0005t0003g0285 a0004c0005t0005g0014	5	357	0.0140	-49	c.19 others(66): Show c.19-1076_*19-1028delTGGATGGGGCGGCTGGCCGGGCGGGGGG CTGACCCCCCCACCTCCCTCC	DDC	ENSG00000132437.18	transcript	ENST00000444124.7	protein_coding	14/14			chr7	TogoVar
DDX1_chr2_15586868_15636101	15611480	ACCTCCCG others(42): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTC	A A	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0201 a0001c0002t0001g0201	1	393	0.0025	-49	c.957 others(66): Show c.957-1716_957-1668delAGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGC	DDX1	ENSG00000079785.16	transcript	ENST00000233084.8	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
DDX1_chr2_15586868_15636101	15611673	GCTGGCCG others(42): Show GCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGA	G G	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0203 a0001c0009t0001g0203	1	394	0.0025	-49	c.957 others(66): Show c.957-1504_957-1456delCGACTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGGG	DDX1	ENSG00000079785.16	transcript	ENST00000233084.8	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
DDX1_chr2_15586868_15636101	15611720	CGACTGGC others(42): Show CGACTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03130.hp2 HG02109.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0224 a0001c0002t0001g0225	2	394	0.0051	-49	c.957 others(66): Show c.957-1502_957-1454delACTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGTG	DDX1	ENSG00000079785.16	transcript	ENST00000233084.8	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
DDX23_chr12_48824756_48857163	48842493	AAGGTGGG others(42): Show AAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02258.hp1 HG02258.hp2 others(2): Show HG02109.hp1 HG02258.hp1 HG02258.hp2 NA18906.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0022 a0001c0002t0007g0023 a0001c0002t0007g0075 a0001c0002t0007g0022 a0001c0002t0007g0023 a0001c0002t0007g0075	5	344	0.0145	-49	c.320 others(66): Show c.320+1398_320+1446delCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCACCT	DDX23	ENSG00000174243.11	transcript	ENST00000308025.8	protein_coding	3/16			chr12	TogoVar
DEFB124_chr20_31460471_31480127	31470057	GGCGGCTG others(42): Show GGCGGCTGGACGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGA	G G	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0114 a0001c0001t0002g0114	1	360	0.0028	-49	c.58+ others(64): Show c.58+2850_58+2898delTCCGTCCGGGAGGGAGGTGGGGGGGTCAGC CCCCTGCCCGTCCAGCCGC	DEFB124	ENSG00000180383.4	transcript	ENST00000317676.3	protein_coding	2/2			chr20	TogoVar
DEFB124_chr20_31460471_31480127	31471489	GGGCTGAC others(42): Show GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGA	G G	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	360	0.0028	-49	c.58+ others(64): Show c.58+1418_58+1466delTCCTGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGTCAGCC	DEFB124	ENSG00000180383.4	transcript	ENST00000317676.3	protein_coding	2/2			chr20	TogoVar
DEFB124_chr20_31460471_31480127	31471496	CCCCCCCA others(42): Show CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGAGGCTGAT	C C	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	360	0.0028	-49	c.58+ others(64): Show c.58+1411_58+1459delATCAGCCTCCTGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGG	DEFB124	ENSG00000180383.4	transcript	ENST00000317676.3	protein_coding	2/2			chr20	TogoVar
DGAT1_chr8_144309584_144331852	144313736	GCGCCTCC others(42): Show GCGCCTCCCCGCCTCCCCGCCCCGCCTCCCCGCCTCCCCGCCCCGCCTCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG02132.hp1 HG02818.hp2 others(3): Show HG01081.hp2 HG02132.hp1 HG02818.hp2 HG03239.hp1 NA18612.hp1 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0034 a0001c0001t0002 a0001c0001t0003 a0001c0001t0034	a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0085 others(3): Show a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0085 a0001c0001t0002g0098 a0001c0001t0003g0031 a0001c0001t0034g0090	6	242	0.0248	-49	c.27 others(60): Show c.2769_*2817delGGAGGCGGGGCGGGGAGGCGGGGAGGCGGGGCGG GGAGGCGGGGAGGCG	DGAT1	ENSG00000185000.12	transcript	ENST00000528718.6	protein_coding		847		chr8	TogoVar
DGKB_chr7_14140049_14907751	14721489	CTTAAAGC others(42): Show CTTAAAGCTGTATCATGTATTTATCACATGGAATACGGTTAAATGAATAT	C C	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0026 a0001c0004t0026	a0001c0004t0026g0139 a0001c0004t0026g0139	1	146	0.0068	-49	c.323 others(66): Show c.323-2853_323-2805delATATTCATTTAACCGTATTCCATGTGAT AAATACATGATACAGCTTTAA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	5/25			chr7	TogoVar
DGKI_chr7_137376037_137851974	137612603	TTGATAAT others(42): Show TTGATAATCTACAGGATCGCTTATCCTGCCTGGGTCAGTGTTGTTGAGAG	T T	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0045 a0001c0016t0045	a0001c0016t0045g0086 a0001c0016t0045g0086	1	92	0.0109	-49	c.994 others(66): Show c.994-3043_994-2995delCTCTCAACAACACTGACCCAGGCAGGAT AAGCGATCCTGTAGATTATCA	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	8/32			chr7	TogoVar
DGKK_chrX_50360409_50475825	50447379	ATATAATA others(42): Show ATATAATATATATATATTATATATATATATAATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02109.hp1 HG02257.hp2 others(9): Show HG01361.hp1 HG02109.hp1 HG02257.hp2 HG02818.hp2 HG02886.hp1 HG03471.hp1 NA18522.hp1 NA18906.hp1 NA18983.hp1 NA18985.hp1 NA19043.hp1 NA19240.hp1	a0001 a0005 a0001 a0005	a0001c0002 a0005c0008 a0001c0002 a0005c0008	a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0005c0008t0003	a0001c0002t0001g0084 a0001c0002t0001g0129 a0001c0002t0001g0196 others(9): Show a0001c0002t0001g0084 a0001c0002t0001g0129 a0001c0002t0001g0196 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0002g0017 a0001c0002t0002g0027 a0001c0002t0002g0198 a0001c0002t0004g0197 a0005c0008t0003g0190	12	246	0.0488	-49	c.645 others(68): Show c.645+22606_645+22654delAATATATATATATATATATTATATAT ATATATAATATATATATATTATA	DGKK	ENSG00000274588.2	transcript	ENST00000611977.2	protein_coding	1/27			chrX	TogoVar
DGLUCY_chr14_91109073_91230632	91184585	GGGAGGGA others(42): Show GGGAGGGAGGGAGGGAGGGAGTCTGATTCTGGAAGGAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	214	0.0047	-49	c.934 others(66): Show c.934+3199_934+3247delAGGGAGGGAGGGAGGGAGTCTGATTCTG GAAGGAAGGAAGGAAGGAAGG	DGLUCY	ENSG00000133943.21	transcript	ENST00000256324.15	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
DHRS12_chr13_51762993_51809163	51774703	TCTACTAC others(42): Show TCTACTACATGTATTCTCCTACAGTACATGTATTCTCCTACAGTATTCTC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	418	0.0024	-49	c.364 others(64): Show c.364-718_364-670delGAGAATACTGTAGGAGAATACATGTACTGT AGGAGAATACATGTAGTAG	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DHRS12_chr13_51762993_51809163	51775987	CCTACATG others(42): Show CCTACATGTATTCTACAGTATTCTCCTACATGTATTCTCCTACATGTATT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0240 a0002c0002t0003g0240	1	409	0.0024	-49	c.363 others(66): Show c.363+1024_363+1072delAATACATGTAGGAGAATACATGTAGGAG AATACTGTAGAATACATGTAG	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DHRS12_chr13_51762993_51809163	51776030	ATGTATTC others(42): Show ATGTATTCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACAT	A A	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02258.hp1 HG02896.hp1 others(1): Show HG02004.hp2 HG02258.hp1 HG02896.hp1 NA18993.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0003 a0001c0001t0003 a0002c0002t0003	a0001c0001t0003g0283 a0002c0002t0003g0081 a0002c0002t0003g0181 others(1): Show a0001c0001t0003g0283 a0002c0002t0003g0081 a0002c0002t0003g0181 a0002c0002t0003g0199	4	417	0.0096	-49	c.363 others(65): Show c.363+981_363+1029delATGTAGGAGAATACTGTAGAATACATGTA GGAGAATACTGTAGAATACA	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DHRS12_chr13_51762993_51809163	51776092	ATGTATTC others(42): Show ATGTATTCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACAT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0053 a0002c0002t0003g0053	1	415	0.0024	-49	c.363 others(64): Show c.363+919_363+967delATGTAGGAGAATACTGTAGAATACATGTAG GAGAATACTGTAGAATACA	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DHRSX_chrX_2214506_2505976	2464324	GGTTCCCT others(42): Show GGTTCCCTAGCAATCCGGCCAAGGGCCGCTGATGTGCACACACTGAAGAC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01496.hp2 HG01934.hp1 others(13): Show HG00280.hp1 HG01496.hp2 HG01934.hp1 HG02004.hp1 HG02293.hp1 HG02486.hp2 HG02572.hp1 HG02630.hp1 HG02647.hp1 HG02886.hp1 HG02895.hp1 HG02922.hp1 HG02922.hp2 HG03098.hp1 HG03710.hp1 NA19070.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0009	a0001c0001 a0002c0002 a0002c0005 others(3): Show a0001c0001 a0002c0002 a0002c0005 a0003c0003 a0003c0012 a0009c0011	a0001c0001t0001 a0001c0001t0012 a0002c0002t0002 others(6): Show a0001c0001t0001 a0001c0001t0012 a0002c0002t0002 a0002c0002t0004 a0002c0005t0004 a0002c0005t0008 a0003c0003t0001 a0003c0012t0005 a0009c0011t0009	a0001c0001t0001g0009 a0001c0001t0001g0022 a0001c0001t0001g0025 others(13): Show a0001c0001t0001g0009 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0047 a0001c0001t0012g0023 a0002c0002t0002g0005 a0002c0002t0002g0026 a0002c0002t0002g0046 a0002c0002t0002g0050 a0002c0002t0004g0028 a0002c0005t0004g0030 a0002c0005t0008g0007 a0003c0003t0001g0031 a0003c0012t0005g0004 a0009c0011t0009g0008	16	48	0.3333	-49	c.109 others(68): Show c.109+36444_109+36492delGTCTTCAGTGTGTGCACATCAGCGGC CCTTGGCCGGATTGCTAGGGAAC	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	1/6			chrX	TogoVar
DIP2B_chr12_50499985_50753657	50579641	AAAAATAT others(42): Show AAAAATATATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0284 a0001c0004t0005g0284	1	276	0.0036	-49	c.101 others(68): Show c.101-46333_101-46285delAAATATATATATATATATATATATAT ATATATATATATATATATATATA	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50579643	AAATATAT others(42): Show AAATATATATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0051 a0001c0003t0002g0051	1	260	0.0038	-49	c.101 others(68): Show c.101-46331_101-46283delATATATATATATATATATATATATAT ATATATATATATATATATATATA	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2C_chr10_269201_694668	322337	CGCTGTTA others(42): Show CGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCAGT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA19066.hp2 HG00621.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0003 a0001c0001t0003 a0001c0002t0003	a0001c0001t0003g0085 a0001c0002t0003g0069 a0001c0001t0003g0085 a0001c0002t0003g0069	2	82	0.0244	-49	c.392 others(68): Show c.3924+4620_3924+4668delACTGGTCTCTCGCCGGAGCCCCGCAC CCCCGACTGACTGTTCTAACAGC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	322484	CGCTGTTA others(42): Show CGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCAGT	C C	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0029 a0001c0002t0003g0029	1	87	0.0115	-49	c.392 others(68): Show c.3924+4473_3924+4521delACTGGTCTCTCGCCGGAGCCCCGCAC CCCCGACTGACTGTTCTAACAGC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	322486	CTGTTAGA others(42): Show CTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCAGTGT	C C	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0048 a0001c0004t0003g0048	1	71	0.0141	-49	c.392 others(68): Show c.3924+4471_3924+4519delACACTGGTCTCTCGCCGGAGCCCCGC ACCCCCGACTGACTGTTCTAACA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	322633	CTGTTAGA others(42): Show CTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCAGTGT	C C	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02717.hp1 HG02004.hp2 HG02717.hp1	a0001 a0001	a0001c0008 a0001c0009 a0001c0008 a0001c0009	a0001c0008t0001 a0001c0009t0001 a0001c0008t0001 a0001c0009t0001	a0001c0008t0001g0017 a0001c0009t0001g0013 a0001c0008t0001g0017 a0001c0009t0001g0013	2	75	0.0267	-49	c.392 others(68): Show c.3924+4324_3924+4372delACACTGGTCTCTCGCCGGAGCCCCGC ACCCCCGACTGACTGTTCTAACA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	322667	GGCGAGAG others(42): Show GGCGAGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCA	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0063 a0001c0002t0003g0063	1	62	0.0161	-49	c.392 others(68): Show c.3924+4290_3924+4338delTGGAGCCCCGCACCCCCGACTGACTG TTCTAACAACACTGGTCTCTCGC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	322731	CTGTTAGA others(42): Show CTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCAGTGT	C C	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02280.hp2 HG01934.hp1 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0009 a0001c0002 a0001c0009	a0001c0002t0001 a0001c0009t0003 a0001c0002t0001 a0001c0009t0003	a0001c0002t0001g0030 a0001c0009t0003g0003 a0001c0002t0001g0030 a0001c0009t0003g0003	2	70	0.0286	-49	c.392 others(68): Show c.3924+4226_3924+4274delACACTGGTCTCTCGCCGGAGCCCCGC ACCCCCGACTGACTGTTCTAACA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	323170	TGTTGTTA others(42): Show TGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGGTCCGGCGAGAGACCGGC	T T	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0025	1	55	0.0182	-49	c.392 others(68): Show c.3924+3787_3924+3835delGCCGGTCTCTCGCCGGACCCCCGCAC CCCCGACTGACTGTTCTAACAAC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	323353	AGCGAGAG others(42): Show AGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCG	A A	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG03225.hp1 HG01952.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0003 a0001c0001t0002 a0001c0002t0003	a0001c0001t0002g0025 a0001c0002t0003g0058 a0001c0001t0002g0025 a0001c0002t0003g0058	2	54	0.0370	-49	c.392 others(68): Show c.3924+3604_3924+3652delCGGAGCCCCGCACCCCCGACTGACTG TTCTAACAGCGCCGGTCTCTCGC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	679209	ATCTCTAC others(42): Show ATCTCTACTCCCCACACCCAGGCTCCCCGCGCCCGTCCTCCCCACACCCC	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0009 a0001c0016t0009	a0001c0016t0009g0073 a0001c0016t0009g0073	1	88	0.0114	-49	c.85+ others(66): Show c.85+10236_85+10284delGGGGTGTGGGGAGGACGGGCGCGGGGAG CCTGGGTGTGGGGAGTAGAGA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DISC1_chr1_231621790_232046272	231762181	CTTCTTTT others(42): Show CTTCTTTTCTTTCTTTTCTTTTCTTTTCTTTTCTCTTCTTTTCTTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00673.hp2 HG01496.hp1 others(9): Show HG00639.hp2 HG00673.hp2 HG01496.hp1 HG02559.hp1 HG03130.hp1 HG03130.hp2 HG04204.hp2 NA18960.hp2 NA18971.hp1 NA18971.hp2 NA19066.hp1 NA19066.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0007	a0001c0001 a0001c0005 a0001c0012 others(6): Show a0001c0001 a0001c0005 a0001c0012 a0002c0003 a0002c0004 a0002c0009 a0003c0002 a0004c0006 a0007c0008	a0001c0001t0001 a0001c0001t0013 a0001c0005t0002 others(9): Show a0001c0001t0001 a0001c0001t0013 a0001c0005t0002 a0001c0005t0003 a0001c0005t0011 a0001c0012t0017 a0002c0003t0002 a0002c0004t0001 a0002c0009t0001 a0003c0002t0009 a0004c0006t0001 a0007c0008t0004	a0001c0001t0001g0032 a0001c0001t0013g0036 a0001c0005t0002g0016 others(9): Show a0001c0001t0001g0032 a0001c0001t0013g0036 a0001c0005t0002g0016 a0001c0005t0003g0029 a0001c0005t0011g0023 a0001c0012t0017g0039 a0002c0003t0002g0008 a0002c0004t0001g0003 a0002c0009t0001g0006 a0003c0002t0009g0025 a0004c0006t0001g0034 a0007c0008t0004g0009	12	29	0.4138	-49	c.126 others(68): Show c.1269-4947_1269-4899delCTTTTCTTTTCTTTTCTTTTCTCTTC TTTTCTTTTCTTTTCTTTTCTTT	DISC1	ENSG00000162946.24	transcript	ENST00000439617.8	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
DLGAP2_chr8_732628_1713476	965224	CTGCACAC others(42): Show CTGCACACGGCACTGTTCACCTCACACGGCTCCTGAGCCCAACCCCCGCG	C C	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0012 a0001c0009t0012	a0001c0009t0012g0006 a0001c0009t0012g0006	1	40	0.0250	-49	c.73+ others(66): Show c.73+57279_73+57327delTCACACGGCTCCTGAGCCCAACCCCCGC GTGCACACGGCACTGTTCACC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	965661	GACCCCGC others(42): Show GACCCCGCACTGCACACGGCACTGTTCACCTCACACGGCTCCTGAGCCCA	G G	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0009 a0002c0004t0003g0009	1	40	0.0250	-49	c.73+ others(66): Show c.73+57701_73+57749delGCACTGCACACGGCACTGTTCACCTCAC ACGGCTCCTGAGCCCAACCCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1247081	TCCACGTC others(42): Show TCCACGTCGGTGGCCGGCAAGACCTTTGAGATCAGAGTGGGAGTGATGGC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02818.hp1 HG02895.hp2 HG01891.hp1 HG02818.hp1 HG02895.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0007 a0001c0002 a0001c0003 a0002c0007	a0001c0002t0027 a0001c0003t0024 a0002c0007t0008 a0001c0002t0027 a0001c0003t0024 a0002c0007t0008	a0001c0002t0027g0023 a0001c0003t0024g0003 a0002c0007t0008g0040 a0001c0002t0027g0023 a0001c0003t0024g0003 a0002c0007t0008g0040	3	40	0.0750	-49	c.74- others(66): Show c.74-11753_74-11705delCAAGACCTTTGAGATCAGAGTGGGAGTG ATGGCCCACGTCGGTGGCCGG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1248391	GATCAGTG others(42): Show GATCAGTGTGGGAGTGATGGCCCATGTTGGTGGCCGGCAAGACCTTTGAC	G G	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03516.hp2 NA20300.hp2 HG02895.hp1 HG03516.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0006 a0001c0003t0001 a0001c0002t0006 a0001c0003t0001	a0001c0002t0006g0011 a0001c0003t0001g0026 a0001c0003t0001g0027 a0001c0002t0006g0011 a0001c0003t0001g0026 a0001c0003t0001g0027	3	40	0.0750	-49	c.74- others(66): Show c.74-10436_74-10388delTGTTGGTGGCCGGCAAGACCTTTGACAT CAGTGTGGGAGTGATGGCCCA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1400391	GCGCCACC others(42): Show GCGCCACCTCCTCATCCTCCAGGGTAGTGTATTGAGTGCTTACTGAGTGC	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0020 a0001c0003t0014g0020	1	40	0.0250	-49	c.107 others(70): Show c.107-100973_107-100925delGCCACCTCCTCATCCTCCAGGGTA GTGTATTGAGTGCTTACTGAGTGCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DMD_chrX_31114222_33216549	32452445	GGAAAGGA others(42): Show GGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA	G G	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0002 a0002c0013t0002	a0002c0013t0002g0094 a0002c0013t0002g0094	1	122	0.0082	-49	c.360 others(68): Show c.3603+2168_3603+2216delTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	26/78			chrX	TogoVar
DMXL1_chr5_119066087_119254127	119122033	AGGGGGCT others(42): Show AGGGGGCTGACCCCCCAACCTCCCTCCCGGTCGGGGCGGCTGGCCGGGCG	A A	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0020 a0020	a0020c0041 a0020c0041	a0020c0041t0001 a0020c0041t0001	a0020c0041t0001g0097 a0020c0041t0001g0097	1	236	0.0042	-49	c.110 others(66): Show c.1102+910_1102+958delAACCTCCCTCCCGGTCGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCC	DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	9/43		INFO_REALIGN_3_PRIME	chr5	TogoVar
DNAH17_chr17_78418697_78582396	78465748	GGGAGGGA others(42): Show GGGAGGGAGGTGGGGGCGGTCAGCCCCCGCCAGGCCAGCCGCCCCGTCCA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp2 HG02145.hp2 others(15): Show HG01243.hp2 HG01884.hp2 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03195.hp2 HG03225.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 NA21309.hp1	a0005 a0045 a0053 others(15): Show a0005 a0045 a0053 a0067 a0068 a0069 a0081 a0082 a0083 a0084 a0089 a0092 a0098 a0100 a0110 a0111 a0112 a0142	a0005c0053 a0045c0201 a0053c0231 others(15): Show a0005c0053 a0045c0201 a0053c0231 a0067c0219 a0068c0221 a0069c0217 a0081c0214 a0082c0098 a0083c0227 a0084c0215 a0089c0084 a0092c0159 a0098c0016 a0100c0222 a0110c0107 a0111c0046 a0112c0043 a0142c0093	a0005c0053t0001 a0045c0201t0001 a0053c0231t0001 others(15): Show a0005c0053t0001 a0045c0201t0001 a0053c0231t0001 a0067c0219t0001 a0068c0221t0001 a0069c0217t0001 a0081c0214t0001 a0082c0098t0001 a0083c0227t0001 a0084c0215t0001 a0089c0084t0001 a0092c0159t0001 a0098c0016t0001 a0100c0222t0001 a0110c0107t0001 a0111c0046t0001 a0112c0043t0001 a0142c0093t0001	a0005c0053t0001g0176 a0045c0201t0001g0140 a0053c0231t0001g0136 others(15): Show a0005c0053t0001g0176 a0045c0201t0001g0140 a0053c0231t0001g0136 a0067c0219t0001g0122 a0068c0221t0001g0139 a0069c0217t0001g0237 a0081c0214t0001g0137 a0082c0098t0001g0104 a0083c0227t0001g0142 a0084c0215t0001g0100 a0089c0084t0001g0177 a0092c0159t0001g0095 a0098c0016t0001g0010 a0100c0222t0001g0128 a0110c0107t0001g0143 a0111c0046t0001g0102 a0112c0043t0001g0075 a0142c0093t0001g0089	18	250	0.0720	-49	c.894 others(66): Show c.8940+858_8940+906delTGGACGGGGCGGCTGGCCTGGCGGGGGC TGACCGCCCCCACCTCCCTCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	56/80			chr17	TogoVar
DNAJC13_chr3_132412502_132544032	132471020	GACCCCCC others(42): Show GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTT	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02486.hp1 HG02723.hp1 others(3): Show HG02451.hp2 HG02486.hp1 HG02723.hp1 HG02970.hp2 HG03041.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0148 a0001c0001t0002g0277 a0001c0001t0002g0298 others(3): Show a0001c0001t0002g0148 a0001c0001t0002g0277 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301	6	316	0.0190	-49	c.220 others(68): Show c.2209-2088_2209-2040delAGGCGGGGGGCTTACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCC	DNAJC13	ENSG00000138246.17	transcript	ENST00000260818.11	protein_coding	20/55		INFO_REALIGN_3_PRIME	chr3	TogoVar
DNAJC13_chr3_132412502_132544032	132471248	CCCCCCCA others(42): Show CCCCCCCACCTCCCTCCCGGATGGCACGGCTGGCCGGTCGGGGGGGCTGA	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02809.hp1 HG02922.hp2 HG02055.hp2 HG02809.hp1 HG02922.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0267 a0007c0009t0001g0270 a0007c0009t0001g0272 a0007c0009t0001g0267 a0007c0009t0001g0270 a0007c0009t0001g0272	3	316	0.0095	-49	c.220 others(68): Show c.2209-1876_2209-1828delTGGCACGGCTGGCCGGTCGGGGGGGC TGACCCCCCACCTCCCTCCCGGA	DNAJC13	ENSG00000138246.17	transcript	ENST00000260818.11	protein_coding	20/55		INFO_REALIGN_3_PRIME	chr3	TogoVar
DNAJC15_chr13_43018586_43119213	43117187	TGCCTAGT others(42): Show TGCCTAGTGTTTCTTTTCATGATCTATTATTTATGCTGATGCCTCTTGGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0100 a0001c0002t0001g0100	1	350	0.0029	-49	c.99 others(60): Show c.9940_*9988delGCCTAGTGTTTCTTTTCATGATCTATTATTTATG CTGATGCCTCTTGGA	DNAJC15	ENSG00000120675.6	transcript	ENST00000379221.4	protein_coding		2975		chr13	TogoVar

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