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
ZNF862_chr7_149833375_149872479	149859070	C C	CGCGTGGG others(191): Show CGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTG GGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACAC GCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGG GGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACGT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02074.hp1 HG04199.hp1 others(3): Show HG00423.hp1 HG02074.hp1 HG04199.hp1 NA18939.hp2 NA18940.hp2 NA18957.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0002 a0001c0001t0026 a0001c0002t0001 others(2): Show a0001c0001t0002 a0001c0001t0026 a0001c0002t0001 a0002c0003t0003 a0002c0003t0034	a0001c0001t0002g0212 a0001c0001t0026g0152 a0001c0002t0001g0317 others(3): Show a0001c0001t0002g0212 a0001c0001t0026g0152 a0001c0002t0001g0317 a0002c0003t0003g0301 a0002c0003t0003g0312 a0002c0003t0034g0299	6	207	0.0290	198	c.111 others(215): Show c.1118-334_1118-333insGGCAGAGGGGCACACGCGTGGGCCAGCT GTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCA CACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTG TGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCAC GTGCGTGGGCCAGCTGTGGG	ZNF862	ENSG00000106479.11	transcript	ENST00000223210.5	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
ZNF862_chr7_149833375_149872479	149859070	C C	CGCGTGGG others(191): Show CGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTG GGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACAC GCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGG GGGCAGAGGGGCACGTGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACGT	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0148 a0003c0006t0001g0148	1	202	0.0050	198	c.111 others(215): Show c.1118-334_1118-333insGGCAGAGGGGCACACGCGTGGGCCAGCT GTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCA CACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTG TGGGGGCAGAGGGGCACGTGCGTGGGCCAGCTGTGGGGGCAGAGGGGCAC GTGCGTGGGCCAGCTGTGGG	ZNF862	ENSG00000106479.11	transcript	ENST00000223210.5	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
ZNF862_chr7_149833375_149872479	149859070	C C	CGCGTGGG others(191): Show CGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTG GGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACGT GCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGG GGGCAGAGGGGCACGTGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACGT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0154 a0002c0003t0003g0154	1	202	0.0050	198	c.111 others(215): Show c.1118-334_1118-333insGGCAGAGGGGCACACGCGTGGGCCAGCT GTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCA CGTGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTG TGGGGGCAGAGGGGCACGTGCGTGGGCCAGCTGTGGGGGCAGAGGGGCAC GTGCGTGGGCCAGCTGTGGG	ZNF862	ENSG00000106479.11	transcript	ENST00000223210.5	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
ZSCAN22_chr19_58321994_58347332	58326586	T T	TCACCCTC others(191): Show TCACCCTCAGCCTCACACAGGCACCCTCAGCTCTCACACAGGCACCCTCA GCCCTCACACAGCCGCCCTCACCCTCAGCCTCACACAGGCACCCTCAGCT CTCACACAGGCACCCTCAGCCCTCACACAGCCAACCCCATCCCTCACACA GGCACCCTCAGCCCTCACACAGCCGCCCTCACCCTCAGCCTCACACAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00597.hp1 HG02155.hp1 others(9): Show HG00558.hp2 HG00597.hp1 HG02155.hp1 NA18612.hp2 NA18947.hp1 NA18949.hp1 NA18954.hp2 NA18971.hp1 NA18975.hp2 NA18982.hp2 NA18983.hp2 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0069 a0001c0001t0001g0001 a0001c0001t0001g0069	12	382	0.0314	198	c.-58 others(207): Show c.-580_-579insCACCCTCAGCCTCACACAGGCACCCTCAGCTCTCAC ACAGGCACCCTCAGCCCTCACACAGCCGCCCTCACCCTCAGCCTCACACA GGCACCCTCAGCTCTCACACAGGCACCCTCAGCCCTCACACAGCCAACCC CATCCCTCACACAGGCACCCTCAGCCCTCACACAGCCGCCCTCACCCTCA GCCTCACACAGG	ZSCAN22	ENSG00000182318.6	transcript	ENST00000329665.5	protein_coding		407		chr19	TogoVar
ZSCAN22_chr19_58321994_58347332	58326617	T T	TCTCACAC others(191): Show TCTCACACAGGCACCCTCAGCCCTCACACAGCCGCCCTCACCCTCAGCCT CACACAGGCACCCTCAGCCTCACACAGGCACCCTCAGCTCTCACACAGGC ACCCTCAGCCCTCACACAGCCGCCCTCACCCTCAGCCTCACACAGGCACC CTCAGCTCTCACACAGGCACCCTCAGCCCTCACACAGCCAACCCCATCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	285	0.0035	198	c.-54 others(207): Show c.-549_-548insCTCACACAGGCACCCTCAGCCCTCACACAGCCGCCC TCACCCTCAGCCTCACACAGGCACCCTCAGCCTCACACAGGCACCCTCAG CTCTCACACAGGCACCCTCAGCCCTCACACAGCCGCCCTCACCCTCAGCC TCACACAGGCACCCTCAGCTCTCACACAGGCACCCTCAGCCCTCACACAG CCAACCCCATCC	ZSCAN22	ENSG00000182318.6	transcript	ENST00000329665.5	protein_coding		376		chr19	TogoVar
ZSCAN5A_chr19_56216303_56319839	56237982	C C	CACACGGA others(191): Show CACACGGACACATGGACACACACATGAACACATGGACACACACATAAACA CATGGACACACACGAACACACACCTACACACACGTGGACACACACGGACA CATGGACACACACACGGGGACACACACGGACACACACAGAGACACACACG GACACATAGAAACACACGAACACACACCCACACCCACACACACACACGG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01070.hp2 HG01071.hp2 others(3): Show HG00639.hp2 HG01070.hp2 HG01071.hp2 HG01175.hp2 HG01516.hp1 HG01975.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0036 a0001c0001t0001g0072 a0001c0001t0001g0148 others(3): Show a0001c0001t0001g0036 a0001c0001t0001g0072 a0001c0001t0001g0148 a0001c0001t0001g0149 a0002c0002t0001g0293 a0002c0002t0001g0359	6	297	0.0202	198	c.-12 others(219): Show c.-127-12810_-127-12809insCCGTGTGTGTGTGTGGGTGTGGGT GTGTGTTCGTGTGTTTCTATGTGTCCGTGTGTGTCTCTGTGTGTGTCCGT GTGTGTCCCCGTGTGTGTGTCCATGTGTCCGTGTGTGTCCACGTGTGTGT AGGTGTGTGTTCGTGTGTGTCCATGTGTTTATGTGTGTGTCCATGTGTTC ATGTGTGTGTCCATGTGTCCGTGT	ZSCAN5A	ENSG00000131848.10	transcript	ENST00000683990.1	protein_coding	2/5			chr19	TogoVar
ABR_chr17_998519_1184981	1117914	T T	TCCCTGAG others(192): Show TCCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCCTCC CAGCGTTATCCCTGAGCCTGAGTCCTCCCAGCGTTATCCCTGAGCCTGAG TCCTCCCAGCGTTATCCCTGAGCCTGAGTCCTCCCAGCGTTATCCCTGAG CCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCTCCCAGCGTTAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02080.hp2 HG03471.hp2 others(3): Show HG00609.hp1 HG02080.hp2 HG03471.hp2 HG04204.hp2 NA18970.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0032 a0001c0001t0001 a0001c0001t0002 a0001c0001t0032	a0001c0001t0001g0177 a0001c0001t0001g0182 a0001c0001t0001g0204 others(3): Show a0001c0001t0001g0177 a0001c0001t0001g0182 a0001c0001t0001g0204 a0001c0001t0002g0150 a0001c0001t0002g0181 a0001c0001t0032g0304	6	296	0.0203	199	c.246 others(216): Show c.246+7268_246+7269insTTAACGCTGGGAGAACTCAGGCTCAGGG ATAACGCTGGGAGGAACTCAGGCTCAGGGATAACGCTGGGAGGACTCAGG CTCAGGGATAACGCTGGGAGGACTCAGGCTCAGGGATAACGCTGGGAGGA CTCAGGCTCAGGGATAACGCTGGGAGGAACTCAGGCTCAGGGATAACGCT GGGAGGAACTCAGGCTCAGGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1117940	T T	TTATCCCT others(192): Show TTATCCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTCCT CCCAGCGTTATCCCTGAGCCTGAGTCCTCCCAGCGTTATCCCTGAGCCTG AGTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCT GAGCCTGAGTTCTCCCAGCGTTAACCCTGAGCCTGAGTTCCTCCCAGCGA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02129.hp1 HG02135.hp1 others(6): Show HG02056.hp2 HG02129.hp1 HG02135.hp1 NA18747.hp1 NA18747.hp2 NA18952.hp2 NA19012.hp1 NA19074.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012	a0001c0001t0002g0098 a0001c0001t0002g0143 a0001c0001t0003g0142 others(6): Show a0001c0001t0002g0098 a0001c0001t0002g0143 a0001c0001t0003g0142 a0001c0001t0004g0330 a0001c0001t0005g0305 a0001c0001t0006g0055 a0001c0001t0006g0161 a0001c0001t0007g0289 a0001c0001t0012g0184	9	336	0.0268	199	c.246 others(216): Show c.246+7242_246+7243insTCGCTGGGAGGAACTCAGGCTCAGGGTT AACGCTGGGAGAACTCAGGCTCAGGGATAACGCTGGGAGGAACTCAGGCT CAGGGATAACGCTGGGAGGACTCAGGCTCAGGGATAACGCTGGGAGGACT CAGGCTCAGGGATAACGCTGGGAGGACTCAGGCTCAGGGATAACGCTGGG AGGAACTCAGGCTCAGGGATA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1118012	G G	GAGTCCTC others(192): Show GAGTCCTCCCAGCGTTATCCCTGAGCCTGAGTCCTCCCAGCGTTATCCCT GAGCCTGAGTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCCTCCCAGCGT TATCCCTGAGCCTGAGTTCTCCCAGCGTTAACCCTGAGCCTGAGTTCCTC CCAGCGTTATCCCTGAGCCTGAGTTCTCCCCAGCGTTATCCCTGAGCCTA	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18982.hp1 NA18948.hp2 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0073 a0001c0001t0002 a0001c0001t0073	a0001c0001t0002g0113 a0001c0001t0073g0114 a0001c0001t0002g0113 a0001c0001t0073g0114	2	333	0.0060	199	c.246 others(216): Show c.246+7170_246+7171insTAGGCTCAGGGATAACGCTGGGGAGAAC TCAGGCTCAGGGATAACGCTGGGAGGAACTCAGGCTCAGGGTTAACGCTG GGAGAACTCAGGCTCAGGGATAACGCTGGGAGGAACTCAGGCTCAGGGAT AACGCTGGGAGGACTCAGGCTCAGGGATAACGCTGGGAGGACTCAGGCTC AGGGATAACGCTGGGAGGACT	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ACTRT3_chr3_169761921_169774561	169771253	A A	ATTTATAT others(192): Show ATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAAT TTATATTTATATATCATATATAAAAATTTATATTTATATATCATAAATAT AAAAAATTATGTTTATATATCATAAATATAAAAAATTATGTTTATATATC ATAAATATAAAAAATTATGTTTATATATCATAAATATATAAAAATTTATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0032 a0002c0004t0001g0032	1	354	0.0028	199	c.-17 others(210): Show c.-1734_-1733insCATAAATTTTTATATATTTATGATATATAAACAT AATTTTTTATATTTATGATATATAAACATAATTTTTTATATTTATGATAT ATAAACATAATTTTTTATATTTATGATATATAAATATAAATTTTTATATA TGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTA TATATGATATATAAA	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1693		chr3	TogoVar
ADAMTS17_chr15_99966437_100346975	100011300	G G	GGGGAGGG others(192): Show GGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGGAAGGAAAGGAG AGATGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGTGGGAAGGAAAGG AGGGATGGGAGGGTGGGAGAGAAGGAAAGGATGGGAGGGAGGGAGGGAAG GAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01261.hp1 HG02040.hp1 others(5): Show HG01070.hp2 HG01261.hp1 HG02040.hp1 HG02080.hp2 HG03704.hp1 NA19000.hp1 NA19054.hp2 NA20752.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0013	a0001c0014 a0001c0034 a0002c0004 others(3): Show a0001c0014 a0001c0034 a0002c0004 a0004c0003 a0004c0076 a0013c0043	a0001c0014t0007 a0001c0034t0059 a0002c0004t0002 others(4): Show a0001c0014t0007 a0001c0034t0059 a0002c0004t0002 a0002c0004t0074 a0004c0003t0001 a0004c0076t0001 a0013c0043t0003	a0001c0014t0007g0105 a0001c0034t0059g0157 a0002c0004t0002g0167 others(5): Show a0001c0014t0007g0105 a0001c0034t0059g0157 a0002c0004t0002g0167 a0002c0004t0074g0228 a0004c0003t0001g0069 a0004c0003t0001g0093 a0004c0076t0001g0185 a0013c0043t0003g0023	8	32	0.2500	199	c.259 others(220): Show c.2592-13712_2592-13711insTCCCTCCCATCCCTCCTTTCCTTC CCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCTT TCCTTCTCTCCCACCCTCCCATCCCTCCTTTCCTTCCCACCCTCCCATCC CTCCTTTCCTTCCCTCCCTCCCATCTCTCCTTTCCTTCCCCTCCCTCCCT CCCATCCCTCCTTTCCTTCCCTCCC	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	18/21			chr15	TogoVar
ADAMTS17_chr15_99966437_100346975	100011300	G G	GGGGAGGG others(192): Show GGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGGAAGGAAAGGAG AGATGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGTGGGAAGGAAAGG AGGGATGGGAGGGTGGGGAGAGAAGGAAAGGATGGGAGGGAGGGAGGGAG GAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGA	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0137 a0001c0007t0005g0137	1	25	0.0400	199	c.259 others(220): Show c.2592-13712_2592-13711insTCCCTCCCATCCCTCCTTTCCTTC CCTCCCTCCCTCCCATCCCTCCTTTCCTCCCTCCCTCCCTCCCATCCTTT CCTTCTCTCCCCACCCTCCCATCCCTCCTTTCCTTCCCACCCTCCCATCC CTCCTTTCCTTCCCTCCCTCCCATCTCTCCTTTCCTTCCCCTCCCTCCCT CCCATCCCTCCTTTCCTTCCCTCCC	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	18/21			chr15	TogoVar
ADAMTS2_chr5_179105853_179350461	179331396	T T	TGGAGGGA others(192): Show TGGAGGGAGAGGAGGGGGAAGGGAGGGAGAGGAGGGGGAAGGGAGGGAGA GGAGGGGGAAGGGAGGGAGAGGAGGGGAAAGGGAGGGAGAGGAGGGGGAA GGGAGGGAGAGGAGGGGGAAGGGAGGGAGAGGGGGGGAAGGGAGGGAGAG GAGGGGGAAGGGAGGGAGAGGAGGGGGAAGGGAGGGAGAGGAGGGGGAAG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0002 a0001c0014t0002	a0001c0014t0002g0072 a0001c0014t0002g0072	1	94	0.0106	199	c.534 others(218): Show c.534+12370_534+12371insCTTCCCCCTCCTCTCCCTCCCTTCCC CCTCCTCTCCCTCCCTTCCCCCTCCTCTCCCTCCCTTCCCCCCCTCTCCC TCCCTTCCCCCTCCTCTCCCTCCCTTCCCCCTCCTCTCCCTCCCTTTCCC CTCCTCTCCCTCCCTTCCCCCTCCTCTCCCTCCCTTCCCCCTCCTCTCCC TCCCTTCCCCCTCCTCTCCCTCC	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADAMTS3_chr4_72275969_72574221	72456150	T T	TTATATAT others(192): Show TTATATATAGTATATATACTGTATATACTTTATATATAGTATATATACTG TATATACTTTATATATAGTATATATACTGTATATACTATATATATTTTAT ATATAGTATATACAGTATATATACTATATATATTTTATATATAGTATATA TATTGTATATACTATATATATTTTATATATATTTTATATATAGTATATAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0023 a0003c0005t0023	a0003c0005t0023g0035 a0003c0005t0023g0035	1	172	0.0058	199	c.505 others(218): Show c.505-41180_505-41179insGTATATACTATATATAAAATATATAT AAAATATATATAGTATATACAATATATATACTATATATAAAATATATATA GTATATATACTGTATATACTATATATAAAATATATATAGTATATACAGTA TATATACTATATATAAAGTATATACAGTATATATACTATATATAAAGTAT ATACAGTATATATACTATATATA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
AHCYL2_chr7_129220030_129435211	129331679	T T	TAAAAATA others(192): Show TAAAAATACAAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCC CAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGG AGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAG AGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02293.hp1 HG02300.hp1 others(2): Show HG02004.hp1 HG02293.hp1 HG02300.hp1 HG02523.hp2 NA19068.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0206 a0001c0002t0003g0207 a0001c0002t0003g0245 others(2): Show a0001c0002t0003g0206 a0001c0002t0003g0207 a0001c0002t0003g0245 a0001c0002t0003g0246 a0001c0002t0003g0259	5	270	0.0185	199	c.364 others(218): Show c.364-47946_364-47945insAAATTAGCCGGGCGTAGTGGCGGGCG CCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACC CGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCC TGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAATACAAAAA	AHCYL2	ENSG00000158467.17	transcript	ENST00000325006.8	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
AMBRA1_chr11_46391414_46599023	46519983	T T	TACAAAAA others(192): Show TACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCA GTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGA GCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0099 a0002c0008t0001g0099	1	158	0.0063	199	c.207 others(218): Show c.2073-7171_2073-7170insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGAC TGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCC ACCGCGCCCGGCTAATTTTTTGT	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	7/17			chr11	TogoVar
AMFR_chr16_56356452_56430545	56406060	G G	GGGGGAGA others(192): Show GGGGGAGAGGGGGAGAGGGGGGAGAGGGGAGAGGGGGAGAGGGGGGAGAG GGGGAGAGAGGGGAGAGGGGGAAGGGGGAGGGGAGGGGGGAGAGGGGGGA GAGGGGGAAGGGAGGGGGGAGAGGGGGGAGGGGAGGGGGAGAGGGGGGAG GGGAGAGGGGAGAGAGAAGGGAGAGAGGGGGGAGGGGGGGAGAGGGGAGA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0231 a0001c0001t0044g0231	1	36	0.0278	199	c.667 others(214): Show c.667-817_667-816insTCTCCCCTCTCCCCCCCTCCCCCCTCTCTC CCTTCTCTCTCCCCTCTCCCCTCCCCCCTCTCCCCCTCCCCTCCCCCCTC TCCCCCCTCCCTTCCCCCTCTCCCCCCTCTCCCCCCTCCCCTCCCCCTTC CCCCTCTCCCCTCTCTCCCCCTCTCCCCCCTCTCCCCCTCTCCCCTCTCC CCCCTCTCCCCCTCTCCCC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
AMFR_chr16_56356452_56430545	56406060	G G	GGGGGAGA others(192): Show GGGGGAGAGGGGGAGAGGGGGGAGAGGGGAGAGGGGGAGAGGGGGGAGAG GGGGAGAGGGGGGAGAGGGGGAAGGGGGAGGGGAGGGGGGGAGGGGGGGA GAGGGGGAGGGGAGGGGGGGAGAGGGGGAGGGGAGGGGGAGAGGGGGGAG GGGAGAGGGGAGAGAGAAGGGAGAGAGGGGGGAGGGGGGGAGAGGGGAGA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0083 a0001c0001t0008g0083	1	36	0.0278	199	c.667 others(214): Show c.667-817_667-816insTCTCCCCTCTCCCCCCCTCCCCCCTCTCTC CCTTCTCTCTCCCCTCTCCCCTCCCCCCTCTCCCCCTCCCCTCCCCCTCT CCCCCCCTCCCCTCCCCCTCTCCCCCCCTCCCCCCCTCCCCTCCCCCTTC CCCCTCTCCCCCCTCTCCCCCTCTCCCCCCTCTCCCCCTCTCCCCTCTCC CCCCTCTCCCCCTCTCCCC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
AMFR_chr16_56356452_56430545	56406060	G G	GGGGGAGA others(192): Show GGGGGAGAGGGGGAGAGGGGGGAGAGGGGAGAGGGGGAGAGGGGGGAGAG GGGGAGAGGGGGGAGAGGGGGAAGGGGGAGGGGAGGGGGGGGAGGGGGGA GAGGGGGAGGGGAGGGGGGAGAGGGGGAGGGGAGGGGGAGAGGGGGGAGG GGAGAGGGGAGAGAGAAGGGAGAGAGGGGGGAGGGGGGGGAGAGGGGAGA	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA19030.hp2 NA18977.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0058 a0001c0001t0003g0230 a0001c0001t0002g0058 a0001c0001t0003g0230	2	37	0.0541	199	c.667 others(214): Show c.667-817_667-816insTCTCCCCTCTCCCCCCCCTCCCCCCTCTCT CCCTTCTCTCTCCCCTCTCCCCTCCCCCCTCTCCCCCTCCCCTCCCCCTC TCCCCCCTCCCCTCCCCCTCTCCCCCCTCCCCCCCCTCCCCTCCCCCTTC CCCCTCTCCCCCCTCTCCCCCTCTCCCCCCTCTCCCCCTCTCCCCTCTCC CCCCTCTCCCCCTCTCCCC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
AMFR_chr16_56356452_56430545	56406060	G G	GGGGGAGA others(192): Show GGGGGAGAGGGGGAGAGGGGGGAGAGGGGAGAGGGGGAGAGGGGGGAGAG GGGGAGAGGGGGGAGAGGGGGAAGGGGGAGGGGAGGGGGGGGAGGGGGGA GAGGGGGAGGGGAGGGGGGAGAGGGGGAGGGGAGGGGGAGAGGGGGGGAG GGGAGAGGGGAGAGAGAAGGGAGAGAGGGGGGAGGGGGGGAGAGGGGAGA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0107 a0001c0001t0007g0107	1	36	0.0278	199	c.667 others(214): Show c.667-817_667-816insTCTCCCCTCTCCCCCCCTCCCCCCTCTCTC CCTTCTCTCTCCCCTCTCCCCTCCCCCCCTCTCCCCCTCCCCTCCCCCTC TCCCCCCTCCCCTCCCCCTCTCCCCCCTCCCCCCCCTCCCCTCCCCCTTC CCCCTCTCCCCCCTCTCCCCCTCTCCCCCCTCTCCCCCTCTCCCCTCTCC CCCCTCTCCCCCTCTCCCC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
AMFR_chr16_56356452_56430545	56406060	G G	GGGGGAGA others(192): Show GGGGGAGAGGGGGAGAGGGGGGAGAGGGGAGAGGGGGAGAGGGGGGAGAG GGGGAGAGGGGGGAGAGGGGGAAGGGGGAGGGGAGGGGGGGGAGGGGGGA GAGGGGGAGGGGAGGGGGGGAGAGGGGGAGGGGAGGGGGAGAGGGGGGAG GGGAGAGGGGAGAGAGAAGGGAGAGAGGGGGGAGGGGGGGAGAGGGGAGA	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0128 a0001c0001t0002g0128	1	36	0.0278	199	c.667 others(214): Show c.667-817_667-816insTCTCCCCTCTCCCCCCCTCCCCCCTCTCTC CCTTCTCTCTCCCCTCTCCCCTCCCCCCTCTCCCCCTCCCCTCCCCCTCT CCCCCCCTCCCCTCCCCCTCTCCCCCCTCCCCCCCCTCCCCTCCCCCTTC CCCCTCTCCCCCCTCTCCCCCTCTCCCCCCTCTCCCCCTCTCCCCTCTCC CCCCTCTCCCCCTCTCCCC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
AMFR_chr16_56356452_56430545	56406060	G G	GGGGGAGA others(192): Show GGGGGAGAGGGGGAGAGGGGGGAGAGGGGAGAGGGGGAGAGGGGGGAGAG GGGGAGAGGGGGGAGAGGGGGAAGGGGGAGGGGAGGGGGGGGAGGGGGGG AGAGGGGGAGGGGAGGGGGGAGAGGGGGAGGGGAGGGGGAGAGGGGGGAG GGGAGAGGGGAGAGAGAAGGGAGAGAGGGGGGAGGGGGGGAGAGGGGAGA	intron_variant intron_variant	MODIFIER	HG01515.hp2 NA18978.hp1 HG01515.hp2 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0023 a0001c0001t0002 a0001c0001t0023	a0001c0001t0002g0069 a0001c0001t0023g0070 a0001c0001t0002g0069 a0001c0001t0023g0070	2	37	0.0541	199	c.667 others(214): Show c.667-817_667-816insTCTCCCCTCTCCCCCCCTCCCCCCTCTCTC CCTTCTCTCTCCCCTCTCCCCTCCCCCCTCTCCCCCTCCCCTCCCCCTCT CCCCCCTCCCCTCCCCCTCTCCCCCCCTCCCCCCCCTCCCCTCCCCCTTC CCCCTCTCCCCCCTCTCCCCCTCTCCCCCCTCTCCCCCTCTCCCCTCTCC CCCCTCTCCCCCTCTCCCC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
AMFR_chr16_56356452_56430545	56406060	G G	GGGGGAGA others(192): Show GGGGGAGAGGGGGAGAGGGGGGAGAGGGGAGAGGGGGAGAGGGGGGAGAG GGGGAGAGGGGGGAGAGGGGGAAGGGGGAGGGGAGGGGGGGGGAGGGGGG AGAGGGGGAGGGGAGGGGGGAGAGGGGGAGGGGAGGGGGAGAGGGGGGAG GGGAGAGGGGAGAGAGAAGGGAGAGAGGGGGGAGGGGGGGAGAGGGGAGA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0126 a0001c0001t0002g0126	1	36	0.0278	199	c.667 others(214): Show c.667-817_667-816insTCTCCCCTCTCCCCCCCTCCCCCCTCTCTC CCTTCTCTCTCCCCTCTCCCCTCCCCCCTCTCCCCCTCCCCTCCCCCTCT CCCCCCTCCCCTCCCCCTCTCCCCCCTCCCCCCCCCTCCCCTCCCCCTTC CCCCTCTCCCCCCTCTCCCCCTCTCCCCCCTCTCCCCCTCTCCCCTCTCC CCCCTCTCCCCCTCTCCCC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
AMFR_chr16_56356452_56430545	56406060	G G	GGGGGAGA others(192): Show GGGGGAGAGGGGGAGAGGGGGGGAGAGGGGAGAGGGGGGAGAGGGGGGAG AGGGGGAGAGGGGGGAGAGGGGGAAGGGGGAGGGGAGGGGGGGAGGGGGG AGAGGGGGAGGGGAGGGGGGAGAGGGGGAGGGGAGGGGGAGAGGGGGGAG GGGAGAGGGGAGAGAGAAGGGAGAGAGGGGGGAGGGGGGGAGAGGGGAGA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0103 a0001c0001t0007g0103	1	36	0.0278	199	c.667 others(214): Show c.667-817_667-816insTCTCCCCTCTCCCCCCCTCCCCCCTCTCTC CCTTCTCTCTCCCCTCTCCCCTCCCCCCTCTCCCCCTCCCCTCCCCCTCT CCCCCCTCCCCTCCCCCTCTCCCCCCTCCCCCCCTCCCCTCCCCCTTCCC CCTCTCCCCCCTCTCCCCCTCTCCCCCCTCTCCCCCCTCTCCCCTCTCCC CCCCTCTCCCCCTCTCCCC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
AMFR_chr16_56356452_56430545	56406060	G G	GGGGGGAG others(192): Show GGGGGGAGAGGGGGAGAGGGGGGAGAGGGGAGAGGGGGAGAGGGGGGAGA GGGGGAGAGGGGGGAGAGGGGGAAGGGGGAGGGGAGGGGGGGGAGGGGGG AGAGGGGGAGGGGAGGGGGGAGAGGGGGAGGGGAGGGGGAGAGGGGGGAG GGGAGAGGGGAGAGAGAAGGGAGAGAGGGGGGAGGGGGGGAGAGGGGAGA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0071	1	36	0.0278	199	c.667 others(214): Show c.667-817_667-816insTCTCCCCTCTCCCCCCCTCCCCCCTCTCTC CCTTCTCTCTCCCCTCTCCCCTCCCCCCTCTCCCCCTCCCCTCCCCCTCT CCCCCCTCCCCTCCCCCTCTCCCCCCTCCCCCCCCTCCCCTCCCCCTTCC CCCTCTCCCCCCTCTCCCCCTCTCCCCCCTCTCCCCCTCTCCCCTCTCCC CCCTCTCCCCCTCTCCCCC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
AMFR_chr16_56356452_56430545	56406065	A A	AGAGGGGG others(192): Show AGAGGGGGAGAGGGGGGAGAGGGGGGAGAGGGGGAGAGGGGGGAGAGGGG GAGAGGGGGGAGAGGGGGAGAGGGGGAGGGGAGGGGGAGAGGGGGGAGAG GGGGAAGGGGGGAGGGGAGGGGGGAGAGGGGGGAGGGGAGGGGGAGAGGG GGGAGGGGAGAGGGGAGAGAGAAGGGAGAGAGGGGGAGGGGGGGAGAGGG	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0224 a0001c0001t0009g0224	1	338	0.0030	199	c.667 others(214): Show c.667-822_667-821insCCCTCTCCCCCCCTCCCCCTCTCTCCCTTC TCTCTCCCCTCTCCCCTCCCCCCTCTCCCCCTCCCCTCCCCCCTCTCCCC CCTCCCCTCCCCCCTTCCCCCTCTCCCCCCTCTCCCCCTCCCCTCCCCCT CTCCCCCTCTCCCCCCTCTCCCCCTCTCCCCCCTCTCCCCCTCTCCCCCC TCTCCCCCCTCTCCCCCTC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
AMPH_chr7_38378704_38636373	38406724	C C	CCTCTCCT others(192): Show CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0013 a0001c0005t0004g0013	1	285	0.0035	199	c.139 others(220): Show c.1398+11100_1398+11101insAGAGGAGAGGAGAGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAG	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	17/20			chr7	TogoVar
AMPH_chr7_38378704_38636373	38570972	T T	TATATATT others(192): Show TATATATTTATATATATAGAATATATATATAGAATATATATTTATATATA TAGAATATATATATAGAATATATATTTATATATATAGAATATATATATAG AATATATATTTATATATATAGAATATATATATAGAATATATATATAGAAT ATATATATAGAATATATATATAGAATATATATATAGAATATATATATAGA	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG02300.hp1 HG01517.hp1 HG02300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0093 a0001c0002t0002g0094 a0001c0002t0002g0093 a0001c0002t0002g0094	2	151	0.0132	199	c.70- others(216): Show c.70-35962_70-35961insTCTATATATATATTCTATATATATATTC TATATATATATTCTATATATATATTCTATATATATATTCTATATATATAT TCTATATATATAAATATATATTCTATATATATATTCTATATATATAAATA TATATTCTATATATATATTCTATATATATAAATATATATTCTATATATAT ATTCTATATATATAAATATAT	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	1/20			chr7	TogoVar
ANKRD11_chr16_89262630_89495561	89306380	T T	TTACCTCC others(192): Show TTACCTCCCACTCCGCAGACACGCGCCACCTCCCACTCCGCAGACACGCG CCACCCACCTCCCACTCCGCAGACACGCGCCACCCACCTCCCACTCCGCA GACACGCGCCACCCACCTCCCACTCCGCAGACACGCGCCACCTACCTCCC ACTCCGCAGACACGCGCCACCTACCTCCCACTCCGCAGACACGCGCCACC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03486.hp2 HG02723.hp1 HG03486.hp2	a0012 a0012	a0012c0029 a0012c0037 a0012c0029 a0012c0037	a0012c0029t0001 a0012c0037t0001 a0012c0029t0001 a0012c0037t0001	a0012c0029t0001g0210 a0012c0037t0001g0139 a0012c0029t0001g0210 a0012c0037t0001g0139	2	122	0.0164	199	c.88- others(214): Show c.88-1037_88-1036insGGTGGCGCGTGTCTGCGGAGTGGGAGGTAG GTGGCGCGTGTCTGCGGAGTGGGAGGTAGGTGGCGCGTGTCTGCGGAGTG GGAGGTGGGTGGCGCGTGTCTGCGGAGTGGGAGGTGGGTGGCGCGTGTCT GCGGAGTGGGAGGTGGGTGGCGCGTGTCTGCGGAGTGGGAGGTGGCGCGT GTCTGCGGAGTGGGAGGTA	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	3/12			chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89306570	G G	GCCACCCA others(192): Show GCCACCCACCTCCCACTCCGCAGACACGCGCCACCTACCTCCCACTCCGC AGACACGCGCCACCTACCTCCCACTCCGCAGACACGCGCCACCTCCCACT CCGCAGACACGTGCCACCCACCTCCCACTCCGCAGACACGCGCCACCTCC CACTCCGCAGACACGCGCCACCCACCTCCCACTCCGCAGACACGCGCCAC	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0072 a0005c0005t0001g0072	1	302	0.0033	199	c.88- others(214): Show c.88-1227_88-1226insGTGGCGCGTGTCTGCGGAGTGGGAGGTGGG TGGCGCGTGTCTGCGGAGTGGGAGGTGGCGCGTGTCTGCGGAGTGGGAGG TGGGTGGCACGTGTCTGCGGAGTGGGAGGTGGCGCGTGTCTGCGGAGTGG GAGGTAGGTGGCGCGTGTCTGCGGAGTGGGAGGTAGGTGGCGCGTGTCTG CGGAGTGGGAGGTGGGTGG	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	3/12			chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89306570	G G	GCCACCTA others(192): Show GCCACCTACCTCCCACTCCGCAGACACGCGCCACCTACCTCCCACTCCGC AGACACGCGCCACCTACCTCCCACTCCGCAGACACGCGCCACCTCCCACT CCGCAGACACGTGCCACCCACCTCCCACTCCGCAGACACGCGCCACCTCC CACTCCGCAGACACGCGCCACCCACCTCCCACTCCGCAGACACGCGCCAC	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA18979.hp2 NA18994.hp2 others(3): Show HG00438.hp2 NA18979.hp2 NA18994.hp2 NA19005.hp1 NA19056.hp2 NA20752.hp1	a0005 a0031 a0005 a0031	a0005c0005 a0031c0033 a0005c0005 a0031c0033	a0005c0005t0001 a0031c0033t0001 a0005c0005t0001 a0031c0033t0001	a0005c0005t0001g0030 a0005c0005t0001g0032 a0005c0005t0001g0036 others(3): Show a0005c0005t0001g0030 a0005c0005t0001g0032 a0005c0005t0001g0036 a0005c0005t0001g0067 a0005c0005t0001g0088 a0031c0033t0001g0062	6	307	0.0195	199	c.88- others(214): Show c.88-1227_88-1226insGTGGCGCGTGTCTGCGGAGTGGGAGGTGGG TGGCGCGTGTCTGCGGAGTGGGAGGTGGCGCGTGTCTGCGGAGTGGGAGG TGGGTGGCACGTGTCTGCGGAGTGGGAGGTGGCGCGTGTCTGCGGAGTGG GAGGTAGGTGGCGCGTGTCTGCGGAGTGGGAGGTAGGTGGCGCGTGTCTG CGGAGTGGGAGGTAGGTGG	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	3/12			chr16	TogoVar
ANKS1B_chr12_98738974_99989936	99139343	T T	TTCCCTCC others(192): Show TTCCCTCCCTCCTTCTCTCTCTTTTTCTCCCTTCCCTCCCTCCCTCCCTC CCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCTCCCTTCCCTTTCCCTT CCTTCTTTCTTTCCTCCTTTCTTTCCTTTCCTTCCTTCCTTCCCTTCCCT TCTTCCTTTCTTCCTTCCTTCCTTTCTTCCTCCCTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0018 a0001c0001t0003g0018	1	4	0.2500	199	c.252 others(220): Show c.2526+14945_2526+14946insGGGAGGGAGGGAGGGAGGGAGGAA GAAAGGAAGGAAGGAAGAAAGGAAGAAGGGAAGGGAAGGAAGGAAGGAAA GGAAAGAAAGGAGGAAAGAAAGAAGGAAGGGAAAGGGAAGGGAGGAGGGA GGGAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGGAG AAAAAGAGAGAGAAGGAGGGAGGGA	ANKS1B	ENSG00000185046.21	transcript	ENST00000683438.2	protein_coding	15/26			chr12	TogoVar
ANO7_chr2_241183677_241230976	241218100	G G	GGGCAGCG others(192): Show GGGCAGCGGGGGCGCGCAGGGGCGGAGCGGGGGGCAGCGGGGGGCGCGCA GGGGCGGGGCGGGGGCAGCGGGGGCGCGTAGGGGCGGGGCGGGGGGGGCA GCGGGGGGCGCGCAGGGGGCGGGGCGGGGGGGCAGCGGGGGGCGCGCAGG GGCGGAGCGGGGGGCGCGCAGGGGCGGAGCGGGGGCAGCGGGGGCGCGCA	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0051 a0001c0051	a0001c0051t0007 a0001c0051t0007	a0001c0051t0007g0266 a0001c0051t0007g0266	1	357	0.0028	199	c.217 others(216): Show c.2179-137_2179-136insCAGCGGGGGCGCGCAGGGGCGGAGCGGG GGGCAGCGGGGGGCGCGCAGGGGCGGGGCGGGGGCAGCGGGGGCGCGTAG GGGCGGGGCGGGGGGGGCAGCGGGGGGCGCGCAGGGGGCGGGGCGGGGGG GCAGCGGGGGGCGCGCAGGGGCGGAGCGGGGGGCGCGCAGGGGCGGAGCG GGGGCAGCGGGGGCGCGCAGG	ANO7	ENSG00000146205.15	transcript	ENST00000674324.2	protein_coding	20/24		INFO_REALIGN_3_PRIME	chr2	TogoVar
ANO7_chr2_241183677_241230976	241218103	G G	GCAGCGGG others(192): Show GCAGCGGGGGCGCGCAGGGGCGGAGCGGGGGGCAGCGGGGGCGCGCAGGG GCGGGGCGGGGGCAGCGGGGGCGCGTAGGGGCGGGGCGGGGGGGGGCAGC GGGGGCGCGCAGGGGCGGGGCGGGGGGCAGCGGGGGGCGCGCAGGGGCGG AGCGGGGGCGCGCAGGGGCGGAGCGGGGGCAGCGGGGGGCGCGCAGGGGC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0007 a0004c0005t0007	a0004c0005t0007g0018 a0004c0005t0007g0018	1	393	0.0025	199	c.217 others(216): Show c.2179-136_2179-135insCAGCGGGGGCGCGCAGGGGCGGAGCGGG GGGCAGCGGGGGCGCGCAGGGGCGGGGCGGGGGCAGCGGGGGCGCGTAGG GGCGGGGCGGGGGGGGGCAGCGGGGGCGCGCAGGGGCGGGGCGGGGGGCA GCGGGGGGCGCGCAGGGGCGGAGCGGGGGCGCGCAGGGGCGGAGCGGGGG CAGCGGGGGGCGCGCAGGGGC	ANO7	ENSG00000146205.15	transcript	ENST00000674324.2	protein_coding	20/24			chr2	TogoVar
ANO9_chr11_412938_447011	431059	C C	CGTGGGTA others(192): Show CGTGGGTATCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCGCGGGTATC TGGGGGCTTCCGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTC CGCAGGGGTGTGGGGCTCCCGTGGGTATCTGGGGGCGTCCGCGGGGGTGT GGGGGCTCCCGTGGGTATCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	284	0.0035	199	c.539 others(214): Show c.539+634_539+635insAGACGCCCCCACACCCCCGCGGAAGCCCCC AGATACCCACGGGAGCCCCCACACCCCCGCGGACGCCCCCAGATACCCAC GGGAGCCCCACACCCCTGCGGAAGCCCCCAGATACCCGCGGACGCCCCCA CACCCCCGCGGAAGCCCCCAGATACCCGCGGGAGCCCCCACACCCCCGCA GACGCCCCCAGATACCCAC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
API5_chr11_43306996_43349529	43310924	T T	TTGTATAT others(192): Show TTGTATATATAATATATATTATATATAATTGTATATATAATATATATTAT ATATATAATTGTATATAATATATATTATATATATAATTGTATATATAATA TATATTATATATATAATTGTATAATATAATATATATTATATATATAATTG TATATATAATATATATTATATATATAATTGTATATATAATATAATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	366	0.0027	199	c.-12 others(210): Show c.-1204_-1203insTGTATATATAATATATATTATATATAATTGTATA TATAATATATATTATATATATAATTGTATATAATATATATTATATATATA ATTGTATATATAATATATATTATATATATAATTGTATAATATAATATATA TTATATATATAATTGTATATATAATATATATTATATATATAATTGTATAT ATAATATAATATATA	API5	ENSG00000166181.13	transcript	ENST00000531273.6	protein_coding		1071		chr11	TogoVar
ARID1B_chr6_156772378_157215779	157147227	A A	ACCCCCGC others(192): Show ACCCCCGCCTCCGACCCTGCCCTCCATCCCTCACCCCCCGCCTCCGGCCC TGCCCGCCAGCCCTCACCTCCGCCTCCGACCCTGCCCGCCTTCCCTCACC CCCGCCTCCGGCCCTGCCCTCCGTCCCCCACCCCCGCCTCCGGCCCTGCC CTCCATCCCTCACCCCCGCCTCCGGCCCTGCCCTCCGGCCCTCACCCCAG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01496.hp2 HG01884.hp1 others(20): Show HG01109.hp2 HG01496.hp2 HG01884.hp1 HG01891.hp2 HG02109.hp1 HG02145.hp1 HG02630.hp2 HG02965.hp1 HG02976.hp2 HG03017.hp2 HG03209.hp2 HG03225.hp1 HG03471.hp1 HG03486.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 NA18522.hp2 NA18906.hp2 NA18964.hp2 NA20300.hp1 NA20905.hp2	a0001 a0002 a0004 others(6): Show a0001 a0002 a0004 a0005 a0006 a0008 a0011 a0013 a0020	a0001c0001 a0001c0002 a0001c0008 others(10): Show a0001c0001 a0001c0002 a0001c0008 a0001c0021 a0002c0003 a0004c0029 a0004c0030 a0005c0010 a0006c0039 a0008c0033 a0011c0027 a0013c0023 a0020c0013	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(13): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0003 a0001c0008t0010 a0001c0021t0007 a0002c0003t0002 a0002c0003t0009 a0004c0029t0007 a0004c0030t0001 a0005c0010t0001 a0006c0039t0021 a0008c0033t0002 a0011c0027t0001 a0013c0023t0002 a0020c0013t0009	a0001c0001t0001g0098 a0001c0001t0003g0054 a0001c0001t0003g0056 others(20): Show a0001c0001t0001g0098 a0001c0001t0003g0054 a0001c0001t0003g0056 a0001c0001t0003g0076 a0001c0001t0003g0132 a0001c0002t0001g0026 a0001c0002t0003g0011 a0001c0002t0003g0053 a0001c0002t0003g0058 a0001c0002t0003g0074 a0001c0002t0003g0102 a0001c0008t0010g0133 a0001c0021t0007g0122 a0002c0003t0002g0048 a0002c0003t0009g0047 a0004c0029t0007g0087 a0004c0030t0001g0089 a0005c0010t0001g0096 a0006c0039t0021g0041 a0008c0033t0002g0045 a0011c0027t0001g0110 a0013c0023t0002g0009 a0020c0013t0009g0038	23	24	0.9583	199	c.276 others(218): Show c.2762-1395_2762-1394insCCCGCCTCCGACCCTGCCCTCCATCC CTCACCCCCCGCCTCCGGCCCTGCCCGCCAGCCCTCACCTCCGCCTCCGA CCCTGCCCGCCTTCCCTCACCCCCGCCTCCGGCCCTGCCCTCCGTCCCCC ACCCCCGCCTCCGGCCCTGCCCTCCATCCCTCACCCCCGCCTCCGGCCCT GCCCTCCGGCCCTCACCCCAGCC	ARID1B	ENSG00000049618.25	transcript	ENST00000636930.2	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
ARL13B_chr3_93975155_94060678	94043545	C C	CCTCCCCC others(192): Show CCTCCCCCTCCCCCTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCC TCCCCCTCCCCCTCCCCCTCCCTCCCCCTTCCCCTCCCCCTCCCCCCTCC CCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	192	0.0052	199	c.102 others(216): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCCTTCCCCTCCCCCTC CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCCTCCCC CTCCCCCTCTCCCCCTCCCCC	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ARL13B_chr3_93975155_94060678	94043558	C C	CTCCCCCC others(192): Show CTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCC CCTCCCCCTCCCTCCCCCGCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCT CCCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTC CCCCGCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0145 a0003c0003t0001g0145	1	72	0.0139	199	c.102 others(216): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCCGCCCCTCCCCC TCCCCCTCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCCTCCC CCTCCCCCCTCCCCCTCCCTCCCCCGCCCCTCCCCCTCCCCCTCTCCCCC TCCCCCTCTCCCCCTCCCCCT	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9			chr3	TogoVar
ARL13B_chr3_93975155_94060678	94043558	C C	CTCCCCCC others(192): Show CTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCCTCCCCCTCCCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCC CCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCCCTCCCCCTCCCTCC CCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	72	0.0139	199	c.102 others(216): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCT CCCCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCC TCCCCCTCTCCCCCTCCCCCT	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9			chr3	TogoVar
ATG10_chr5_81967023_82261133	81993359	C C	CTTTCCTT others(192): Show CTTTCCTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0191 a0003c0003t0001g0191	1	149	0.0067	199	c.108 others(216): Show c.108+5681_108+5682insTTTCCTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCT	ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	2/7			chr5	TogoVar
B4GALNT4_chr11_364499_387117	375020	G G	GAGGGAGG others(192): Show GAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGG AGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGA GGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAG GAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19088.hp2 NA19012.hp2 NA19088.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0069 a0002c0002t0001g0075 a0002c0002t0001g0069 a0002c0002t0001g0075	2	84	0.0238	199	c.784 others(214): Show c.784-434_784-433insAGGAAGGGAGGGAGGGAGGAGGAAGGGAGG GAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGA GGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAG GGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGG GAGGGAGGAGGAAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(192): Show GGGAGGGAGAGGGGGGAGGGGGAGGGAGGGGGAGGGGGAGGGGGAAGGAG AGGGGGGATGGGGATGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGGAGGG GGAGAGGGGGGAGGGGAGGGGGAGAGGGGGAGGGAGAGGGGGAGGGAGAT GGACTGGGGAGGAGGGGGATGGACTGGGGAGGAGGGGGATGGACTGGGGA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02559.hp1 HG03225.hp1 others(1): Show HG02258.hp2 HG02559.hp1 HG03225.hp1 HG03225.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0004 a0001c0005t0005g0005 a0001c0005t0005g0006 others(1): Show a0001c0005t0005g0004 a0001c0005t0005g0005 a0001c0005t0005g0006 a0001c0005t0005g0007	4	5	0.8000	199	c.51+ others(212): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCTCCCTCCCCCTCTCCCC CTCCCCTCCCCCCTCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCTCC CCCATCCCCATCCCCCCTCTCCTTCCCCCTCCCCCTCCCCCTCCCTCCCC CTCCCCCCTCTCCCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BCHE_chr3_165767904_165842423	165797255	T T	TCCCTCCC others(192): Show TCCCTCCCCCCTCCCTTCCTTCCTTCTTCCCTCCCTCCTTCCTCCCTCCC TCCCCCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCTTCC TCCCTCCCTCCCCCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCC TTCCTCCCTCCCTCCTTCCTTCTTCCCTCCCTCCTTCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01106.hp2 HG01358.hp2 others(3): Show HG00140.hp2 HG01106.hp2 HG01358.hp2 HG01361.hp2 HG02280.hp2 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0236 a0001c0001t0002g0240 a0001c0001t0002g0241 others(3): Show a0001c0001t0002g0236 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0244 a0001c0001t0002g0245	6	267	0.0225	199	c.151 others(220): Show c.1518-10945_1518-10944insGGGAGGGAGGGAGGAAGGAGGGAG GGAAGAAGGAAGGAGGGAGGGAGGAAGGAGGGAGGGAGGAAGGAAGGAAG GAAGGAAGGGAGGGGGGAGGGAGGGAGGAAGGAGGGAGGGAGGGAGGAAG GAAGGAAGGAAGGAAGGGAGGGGGGAGGGAGGGAGGAAGGAGGGAGGGAA GAAGGAAGGAAGGGAGGGGGGAGGG	BCHE	ENSG00000114200.10	transcript	ENST00000264381.8	protein_coding	2/3			chr3	TogoVar
BFSP2_chr3_133395056_133480208	133425980	G G	GAGGGGGA others(192): Show GAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAAGGGGAGGGGAAGGG GAGGGGAAGGGGAGGGGAAGGGGAGGGGAGGGGGAGGGGAGGGGAAGGGG AGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGGAG GGGAGGGGAAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAAGGCAGGGC	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0159 a0001c0002t0001g0159	1	151	0.0066	199	c.490 others(218): Show c.490-21336_490-21335insGGGGGAGGGGGAGGGGAGGGGGAGGG GAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGG AGGGGGAGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGGAGGGGAGGGGAA GGGGAGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGGAGGGGAGGGGGAGG GGAGGGGAGGGGAAGGCAGGGCA	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
C1QTNF12_chr1_1237453_1251722	1249607	C C	CACGGGCA others(192): Show CACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCC GCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGG CTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAG GCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	326	0.0031	199	c.-29 others(210): Show c.-2918_-2917insTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAG CCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGC GGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTG TCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCT CCCAGGGCTGCCCGT	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding		2886		chr1	TogoVar
C20orf96_chr20_265863_295750	278973	A A	ACGGAGGG others(192): Show ACGGAGGGAGGAAGGGCGGGACAGAGGGAGGGAGGGAGGGCGGGACGGAG GGCGGGAGGGCGGGACGGAGGGAGGGCGGGAGGGCGGGACGGAGGGAGGG AGGGACGGAGGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACGGAGGGAG GGAGGGCGGAGGGAGGGAGGGCGGGAGGGAGGGACGGAGGGAGGAAGGGC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0366 a0001c0001t0001g0366	1	405	0.0025	199	c.465 others(214): Show c.465+198_465+199insGCCCTTCCTCCCTCCGTCCCTCCCTCCCGC CCTCCCTCCCTCCGCCCTCCCTCCCTCCGTCCCGCCCTCCGTCCCTCCCT CCCTCCCTCCCTCCGTCCCTCCCTCCCTCCGTCCCGCCCTCCCGCCCTCC CTCCGTCCCGCCCTCCCGCCCTCCGTCCCGCCCTCCCTCCCTCCCTCTGT CCCGCCCTTCCTCCCTCCG	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
CACNA1A_chr19_13201442_13511479	13221224	T T	TTTCTTTT others(192): Show TTTCTTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTT CTTTCTTTCTTTCTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTCTCT CTCTCTCTCCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0142 a0002c0002t0002g0142	1	90	0.0111	199	c.573 others(218): Show c.5731+3442_5731+3443insGAAAGAAAGAAAGAAAGAGAGAGAGA GAGAGAGAGAGAGAGGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAGAA AGAAAGAAAGAGAAAGAAAGAAAGAAAAGAAAGAAAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAAGAAAAGAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	38/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13221224	T T	TTTCTTTT others(192): Show TTTCTTTTCTTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTTCT TTCTTTCTTTCTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTCTCTCT CTCTCTCTCCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0008 a0008	a0008c0060 a0008c0060	a0008c0060t0002 a0008c0060t0002	a0008c0060t0002g0017 a0008c0060t0002g0017	1	90	0.0111	199	c.573 others(218): Show c.5731+3442_5731+3443insGAAAGAAAGAAAGAAAGAGAGAGAGA GAGAGAGAGAGAGAGGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAG AAAGAAAGAAAGAGAAAGAAAGAAAGAAAAGAAAGAAAGAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAAGAAAAGAAAAGAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	38/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13221224	T T	TTTCTTTT others(192): Show TTTCTTTTCTTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTT TCTTTCTTTCTTTCTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTCTC TCTCTCTCTCTCCTCTCTCTCTCTCTCTCTCTCTCTCTCTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0032 a0032	a0032c0113 a0032c0113	a0032c0113t0003 a0032c0113t0003	a0032c0113t0003g0096 a0032c0113t0003g0096	1	90	0.0111	199	c.573 others(218): Show c.5731+3442_5731+3443insGAAAGAAAGAAGAGAGAGAGAGAGAG AGAGAGAGAGAGGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAGAAA GAAAGAAAGAGAAAGAAAGAAAGAAAAGAAAGAAAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAAGAAAAGAAAAGAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	38/46			chr19	TogoVar

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