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
ADAP1_chr7_892900_959680	919768	G G	GAGGGAGA others(100): Show GAGGGAGATGGGGGAGGGAGGGAGGGAGATGGGGGAGGGAGGGAGGGAGA TGGGGGAGGGAGGGAGGGAGATGGGGGGAGGGAGGGAGATGGGGGGAGGG AGGGAGAT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0011 a0001c0003t0004g0011	1	14	0.0714	107	c.388 others(122): Show c.388+199_388+200insATCTCCCTCCCTCCCCCCATCTCCCTCCCT CCCCCCATCTCCCTCCCTCCCTCCCCCATCTCCCTCCCTCCCTCCCCCAT CTCCCTCCCTCCCTCCCCCATCTCCCT	ADAP1	ENSG00000105963.15	transcript	ENST00000265846.10	protein_coding	4/10			chr7	TogoVar
ADCK5_chr8_144369047_144398242	144382067	G G	GGGCCGGG others(100): Show GGGCCGGGTGTAGAAACAGATGTGTGCTCAGGCACCTGCTGCACTAAGGA TTATGGGCCGGGTGTAGAAACAGATGTGTGCTCAGGCACCTGCTGCACTA AGGATTAT	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0152 a0002c0002t0001g0152	1	346	0.0029	107	c.117 others(123): Show c.117-1011_117-905dupCCGGGTGTAGAAACAGATGTGTGCTCAGG CACCTGCTGCACTAAGGATTATGGGCCGGGTGTAGAAACAGATGTGTGCT CAGGCACCTGCTGCACTAAGGATTATGG	ADCK5	ENSG00000173137.12	transcript	ENST00000308860.11	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADGRB1_chr8_142444649_142550007	142501503	T T	TTGTGTGG others(100): Show TTGTGTGGTTTTGACGATGGAGGTGGGGTGGTGGTGGTGATGGTGATGTG GTGGTGGTGGTGATGGTGGTGGCGGTGATGGCGATGGTGGGGTGGTGGTA GTGATGAC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02273.hp2 HG02280.hp1 others(7): Show HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02451.hp2 HG02622.hp1 HG02922.hp1 HG03098.hp2 HG03540.hp1 HG03579.hp2 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0006 others(3): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0001c0008 a0003c0009	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0001c0006t0004 a0001c0007t0001 a0001c0008t0003 a0003c0009t0002	a0001c0001t0001g0095 a0001c0001t0001g0156 a0001c0001t0003g0086 others(7): Show a0001c0001t0001g0095 a0001c0001t0001g0156 a0001c0001t0003g0086 a0001c0001t0003g0242 a0001c0003t0001g0138 a0001c0003t0001g0241 a0001c0006t0004g0243 a0001c0007t0001g0133 a0001c0008t0003g0013 a0003c0009t0002g0092	10	310	0.0323	107	c.267 others(126): Show c.2676-9387_2676-9281dupGTGATGTGGTGGTGGTGGTGATGGTG GTGGCGGTGATGGCGATGGTGGGGTGGTGGTAGTGATGACTGTGTGGTTT TGACGATGGAGGTGGGGTGGTGGTGGTGATG	ADGRB1	ENSG00000181790.13	transcript	ENST00000517894.6	protein_coding	17/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADRA1D_chr20_4215630_4254287	4224714	T T	TGTTCCAT others(100): Show TGTTCCATCCTGGATAGAGGCTGCAGGTGCCTGTGAGACCAAGCGGGCCA GGGGTGTTCCATCCTGGATAGAGGCTGCAGGTGCCTGTGAGACCAAGCGG GCCAGGGG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02040.hp1 HG02451.hp1 others(17): Show HG01081.hp2 HG02040.hp1 HG02451.hp1 HG02717.hp2 HG03669.hp1 HG03688.hp2 NA18947.hp1 NA18954.hp2 NA18967.hp1 NA18970.hp1 NA18974.hp1 NA18986.hp1 NA18988.hp2 NA18991.hp1 NA18994.hp2 NA19003.hp2 NA19004.hp2 NA19079.hp2 NA20805.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0002c0002t0005	a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0025 others(14): Show a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0174 a0001c0001t0001g0178 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0191 a0001c0001t0001g0195 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0214 a0001c0001t0001g0225 a0001c0001t0001g0254 a0001c0001t0002g0216 a0001c0003t0001g0058 a0002c0002t0005g0374	20	452	0.0443	107	c.111 others(126): Show c.1112-2585_1112-2584insCCCCTGGCCCGCTTGGTCTCACAGGC ACCTGCAGCCTCTATCCAGGATGGAACACCCCTGGCCCGCTTGGTCTCAC AGGCACCTGCAGCCTCTATCCAGGATGGAAC	ADRA1D	ENSG00000171873.8	transcript	ENST00000379453.6	protein_coding	1/1			chr20	TogoVar
AK5_chr1_77277019_77564966	77367854	A A	AATATGTT others(100): Show AATATGTTATATATATTATATATAATATGTTATATATATTATATATAACA TATATTATATATAATATATATGTTATATATAATATATATAATATATGTTA TATATAAT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp2 HG03490.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0145 a0001c0001t0006g0146 a0001c0001t0006g0145 a0001c0001t0006g0146	2	284	0.0070	107	c.891 others(126): Show c.891+27290_891+27291insGTTATATATATTATATATAATATGTT ATATATATTATATATAACATATATTATATATAATATATATGTTATATATA ATATATATAATATATGTTATATATAATATAT	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AKAP13_chr15_85375603_85754355	85613713	T T	TATATATA others(100): Show TATATATATATATATGTATGTATATATATATATATATATATGTGTGTGTA TATATATGTATACATATATATATGTGTGTGTATATATATGTATATATATA TATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01515.hp2 HG01517.hp2 others(6): Show HG00408.hp1 HG01515.hp2 HG01517.hp2 HG02148.hp2 NA18956.hp2 NA18963.hp2 NA18998.hp1 NA19009.hp2 NA19084.hp1	a0002 a0012 a0002 a0012	a0002c0001 a0002c0035 a0012c0015 a0002c0001 a0002c0035 a0012c0015	a0002c0001t0002 a0002c0001t0044 a0002c0035t0002 others(1): Show a0002c0001t0002 a0002c0001t0044 a0002c0035t0002 a0012c0015t0017	a0002c0001t0002g0029 a0002c0001t0002g0030 a0002c0001t0002g0153 others(6): Show a0002c0001t0002g0029 a0002c0001t0002g0030 a0002c0001t0002g0153 a0002c0001t0002g0155 a0002c0001t0002g0156 a0002c0001t0002g0261 a0002c0001t0044g0036 a0002c0035t0002g0312 a0012c0015t0017g0203	9	314	0.0287	107	c.416 others(128): Show c.4162-25661_4162-25660insATATATATATATATGTATGTATAT ATATATATATATATATGTGTGTGTATATATATGTATACATATATATATGT GTGTGTATATATATGTATATATATATATATATA	AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	8/36			chr15	TogoVar
AKAP13_chr15_85375603_85754355	85613713	T T	TATATATA others(100): Show TATATATATATATATGTATGTATATATATATATATATATGTGTGTGTGTA TATATATGTATACATATATATATGTGTGTGTATATATATGTATATATATA TATATATA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0049 a0002c0001t0002g0049	1	314	0.0032	107	c.416 others(128): Show c.4162-25661_4162-25660insATATATATATATATGTATGTATAT ATATATATATATATGTGTGTGTGTATATATATGTATACATATATATATGT GTGTGTATATATATGTATATATATATATATATA	AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	8/36			chr15	TogoVar
ALDH16A1_chr19_49448225_49476050	49461469	G G	GGCCCGGA others(100): Show GGCCCGGATTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCCGGATTCCTG GGTCTGAGGGAGGAGGGGCTGGAGTCTGGACTCCTGGGTCTGAGGGAGGA GGGGCTGA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	342	0.0029	107	c.578 others(122): Show c.578-149_578-148insCCCGGATTCCTGGGTCTGAGGGAGGAGGGG CTGGGGCCCGGATTCCTGGGTCTGAGGGAGGAGGGGCTGGAGTCTGGACT CCTGGGTCTGAGGGAGGAGGGGCTGAG	ALDH16A1	ENSG00000161618.10	transcript	ENST00000293350.9	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
ALDH16A1_chr19_49448225_49476050	49461469	G G	GGCCTGGA others(100): Show GGCCTGGATTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCCGGATTCCTG GGTCTGAGGGAGGAGGGGCTGGAGTCTGGACTCCTGGGTCTGAGGGAGGA GGGGCTGA	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA18522.hp2 HG01891.hp1 NA18522.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0001 a0001c0017t0007 a0001c0017t0001 a0001c0017t0007	a0001c0017t0001g0068 a0001c0017t0007g0067 a0001c0017t0001g0068 a0001c0017t0007g0067	2	342	0.0059	107	c.578 others(122): Show c.578-149_578-148insCCTGGATTCCTGGGTCTGAGGGAGGAGGGG CTGGGGCCCGGATTCCTGGGTCTGAGGGAGGAGGGGCTGGAGTCTGGACT CCTGGGTCTGAGGGAGGAGGGGCTGAG	ALDH16A1	ENSG00000161618.10	transcript	ENST00000293350.9	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
ALLC_chr2_3653200_3707671	3690296	C C	CCCTCCCC others(100): Show CCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCCCTCCCCTCCCCCCTCCCTCCCCCCTCCCCTCCCCCTCC CCTCCCCT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0056 a0002c0002t0002g0056	1	274	0.0037	107	c.512 others(124): Show c.512-5419_512-5418insTCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCTC CCCCCTCCCCTCCCCCTCCCCTCCCCTCC	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ANGEL1_chr14_76781009_76817882	76793391	A A	AGGAGGGG others(100): Show AGGAGGGGAGAGGGGAGAGGAGGGGAGGGTAGGGGAGGGGAGGGGAGAGG AGGGGAGGGGAGGGGAGAGGAGGGGAGGGGAGGGGAGAGGAGGGGAGGGG AGGGGAGG	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0213 a0001c0001t0002g0213	1	396	0.0025	107	c.161 others(126): Show c.1619-2026_1619-2025insCCTCCCCTCCCCTCCCCTCCTCTCCC CTCCCCTCCCCTCCTCTCCCCTCCCCTCCCCTCCTCTCCCCTCCCCTCCC CTACCCTCCCCTCCTCTCCCCTCTCCCCTCC	ANGEL1	ENSG00000013523.11	transcript	ENST00000251089.8	protein_coding	7/9			chr14	TogoVar
ANGEL1_chr14_76781009_76817882	76793391	A A	AGGAGGGG others(100): Show AGGAGGGGAGAGGGGAGAGGAGGGGAGGGTAGGGGAGGGGAGGGGAGAGG AGGGGAGGGGAGGGGAGAGGAGGGGAGGGGAGGGGAGGGGAGAGGAGGGG AGGGGAGG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02300.hp1 HG02809.hp2 HG02145.hp1 HG02300.hp1 HG02809.hp2	a0001 a0003 a0001 a0003	a0001c0006 a0003c0003 a0001c0006 a0003c0003	a0001c0006t0004 a0003c0003t0004 a0001c0006t0004 a0003c0003t0004	a0001c0006t0004g0146 a0001c0006t0004g0226 a0003c0003t0004g0131 a0001c0006t0004g0146 a0001c0006t0004g0226 a0003c0003t0004g0131	3	396	0.0076	107	c.161 others(126): Show c.1619-2026_1619-2025insCCTCCCCTCCCCTCCTCTCCCCTCCC CTCCCCTCCCCTCCTCTCCCCTCCCCTCCCCTCCTCTCCCCTCCCCTCCC CTACCCTCCCCTCCTCTCCCCTCTCCCCTCC	ANGEL1	ENSG00000013523.11	transcript	ENST00000251089.8	protein_coding	7/9			chr14	TogoVar
ANKH_chr5_14699800_14876778	14811181	C C	CAAGAGTC others(100): Show CAAGAGTCTCGGCTCTGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGG CGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0224 a0001c0001t0016g0224	1	232	0.0043	107	c.97- others(124): Show c.97-41991_97-41990insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACT GCAGTGGCGCAATCAGAGCCGAGACTCTT	ANKH	ENSG00000154122.14	transcript	ENST00000284268.8	protein_coding	1/11			chr5	TogoVar
ANXA10_chr4_168087537_168192736	168156010	G G	GTTATATA others(100): Show GTTATATATTATATATAATTTATATAATATATATAATATATTATATATAA TTTATATTATATGTTATATATAATATATTATATATAGTATTATATTATAT ATTATATA	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0178 a0002c0002t0001g0178	1	284	0.0035	107	c.196 others(124): Show c.196-6510_196-6509insTATATATAATTTATATAATATATATAAT ATATTATATATAATTTATATTATATGTTATATATAATATATTATATATAG TATTATATTATATATTATATATTATATAT	ANXA10	ENSG00000109511.12	transcript	ENST00000359299.8	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARHGAP39_chr8_144524179_144690846	144687084	A A	ACCCCGTG others(100): Show ACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACAC ACTAGCGGTGAGCACTTCCCACCCCCGTGACCACACATTTACAGTGAGCA CTTCCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0063 a0001c0001t0003g0063	1	246	0.0041	107	c.-14 others(118): Show c.-1481_-1480insGTGGGAAGTGCTCACTGTAAATGTGTGGTCACGG GGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTC ACCGCTAGTGTGTGGTCACGGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1239		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687298	A A	ACCCCGTG others(100): Show ACCCCGTGACCACTCATTTACAGCGAGCACTTCCCACCCCGTGACCACAC ACTGGCGGCGAGCACTTCCCACCCCCGTGACCACTCATTTACAGCGAGCA CTTCTCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0139 a0001c0001t0002g0139	1	246	0.0041	107	c.-16 others(118): Show c.-1695_-1694insGTGAGAAGTGCTCGCTGTAAATGAGTGGTCACGG GGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTC GCTGTAAATGAGTGGTCACGGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1453		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687357	C C	CGAGCACT others(100): Show CGAGCACTTCCCACCCCCGTGACCACACATTTACAGTGAGCACTTCCCAC CCCTGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACA TTTACAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0108 a0001c0002t0001g0108	1	246	0.0041	107	c.-17 others(118): Show c.-1754_-1753insACTGTAAATGTGTGGTCACGGGGTGGGAAGTGCT CACCGCCAGTGTGTGGTCACAGGGGTGGGAAGTGCTCACTGTAAATGTGT GGTCACGGGGGTGGGAAGTGCTC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1512		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687370	C C	CCCCCGTG others(100): Show CCCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCCGTGACCACA CACTGGCGGTGAGCACTTCCCACCCCCGTGACCACACACTGGCGGTGAGC ACTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	246	0.0041	107	c.-17 others(118): Show c.-1767_-1766insTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGG GGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTC ACCGCCAGTGTGTGGTCACGGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1525		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687444	C C	CGTGACCA others(100): Show CGTGACCACACACTAGCGGTGAGCACTTCCCACCCCCGTGACCACACACT GGCGGTGAGCACTTCCCACCCCGTGACCACACATTTACAGTGAGCACTTC CCACCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0168 a0001c0001t0007g0168	1	246	0.0041	107	c.-18 others(118): Show c.-1841_-1840insAGGGGTGGGAAGTGCTCACTGTAAATGTGTGGTC ACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGGTGGGAAGT GCTCACCGCTAGTGTGTGGTCAC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1599		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687616	A A	ACCCCGTG others(100): Show ACCCCGTGACCACTCATTTACAGCGAGCACTTCCCACCCCCGTGACCACA CACTGGCGGCGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCA CTTCCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02896.hp2 HG02895.hp1 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0234 a0001c0001t0002g0235	2	246	0.0081	107	c.-20 others(118): Show c.-2013_-2012insGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGG GGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTC GCTGTAAATGAGTGGTCACGGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1771		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687671	G G	GCGGCGAG others(100): Show GCGGCGAGCACTTCCCACCCCGTGACCACACATTTACAGTGAGCACTTCC CACCCCCGTGACCACACACTGGCGGCGAGCACTTCCCACCCCCGTGACCA CACATTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0215 a0001c0002t0001g0215	1	246	0.0041	107	c.-20 others(118): Show c.-2068_-2067insTAAATGTGTGGTCACGGGGGTGGGAAGTGCTCGC CGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACTGTAAATGTGTGGT CACGGGGTGGGAAGTGCTCGCCG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1826		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687687	A A	ACCCCGTG others(100): Show ACCCCGTGACCACACATTTACAGTGAGCACTTCCCACCCCTGTGACCACA CACTGGCGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCA CTTCCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0084 a0001c0001t0003g0084	1	246	0.0041	107	c.-20 others(118): Show c.-2084_-2083insGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGG GGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACAGGGGTGGGAAGTGCTC ACTGTAAATGTGTGGTCACGGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1842		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687739	T T	TGGCGGCG others(100): Show TGGCGGCGACCATTTCCCACCCCCGTGACCACGCACTGGCGGCGACCATT TCCCACCCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCCGTGA CCACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	246	0.0041	107	c.-21 others(118): Show c.-2136_-2135insGTGTGTGGTCACGGGGGTGGGAAGTGCTCGCCGC CAGTGCGTGGTCACGGGGGTGGGAAATGGTCGCCGCCAGTGCGTGGTCAC GGGGGTGGGAAATGGTCGCCGCC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1894		chr8	TogoVar
ARHGEF28_chr5_73621196_73946990	73643943	G G	GAGCATCA others(100): Show GAGCATCAGATGCACTAGGTGTGCCACTGCTAGGACCACTCAGTATGTAG CTCTTGTGTCTCCCATGATGTATTATCTGCACAGTTAGTGAGAGTCTGTC TTATAGAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG01074.hp2 others(43): Show HG00408.hp2 HG00438.hp2 HG01074.hp2 HG01123.hp2 HG01517.hp2 HG01891.hp2 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02155.hp2 HG02280.hp2 HG02572.hp1 HG02602.hp2 HG02723.hp1 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp2 HG03209.hp2 HG03471.hp1 HG03486.hp1 HG03540.hp1 HG03540.hp2 HG03688.hp1 HG03704.hp2 HG03831.hp2 HG03927.hp1 HG03942.hp2 NA18906.hp1 NA18949.hp2 NA18962.hp1 NA18978.hp1 NA18982.hp2 NA18984.hp1 NA18988.hp1 NA18995.hp2 NA19004.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19030.hp1 NA19063.hp1 NA19065.hp1 NA19084.hp2 NA19091.hp1	a0001 a0002 a0003 others(19): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0012 a0013 a0014 a0015 a0017 a0019 a0021 a0025 a0027 a0032 a0034 a0036 a0037 a0038	a0001c0001 a0001c0021 a0001c0025 others(29): Show a0001c0001 a0001c0021 a0001c0025 a0001c0028 a0002c0002 a0002c0003 a0003c0005 a0003c0007 a0003c0048 a0004c0004 a0004c0017 a0004c0018 a0005c0008 a0005c0022 a0005c0024 a0006c0010 a0007c0009 a0008c0011 a0012c0063 a0013c0016 a0014c0062 a0015c0038 a0017c0027 a0019c0026 a0021c0054 a0025c0033 a0027c0045 a0032c0067 a0034c0036 a0036c0074 a0037c0078 a0038c0051	a0001c0001t0001 a0001c0001t0002 a0001c0021t0007 others(35): Show a0001c0001t0001 a0001c0001t0002 a0001c0021t0007 a0001c0025t0001 a0001c0028t0001 a0002c0002t0002 a0002c0003t0001 a0002c0003t0002 a0003c0005t0006 a0003c0007t0005 a0003c0048t0006 a0004c0004t0001 a0004c0004t0002 a0004c0017t0006 a0004c0018t0001 a0004c0018t0002 a0005c0008t0001 a0005c0008t0006 a0005c0022t0001 a0005c0022t0005 a0005c0024t0001 a0006c0010t0006 a0007c0009t0001 a0008c0011t0001 a0012c0063t0001 a0013c0016t0002 a0014c0062t0007 a0015c0038t0001 a0017c0027t0007 a0019c0026t0001 a0021c0054t0001 a0025c0033t0007 a0027c0045t0007 a0032c0067t0001 a0034c0036t0001 a0036c0074t0001 a0037c0078t0004 a0038c0051t0001	a0001c0001t0001g0063 a0001c0001t0002g0050 a0001c0001t0002g0058 others(43): Show a0001c0001t0001g0063 a0001c0001t0002g0050 a0001c0001t0002g0058 a0001c0001t0002g0062 a0001c0021t0007g0178 a0001c0025t0001g0156 a0001c0028t0001g0146 a0001c0028t0001g0181 a0002c0002t0002g0158 a0002c0002t0002g0159 a0002c0003t0001g0053 a0002c0003t0002g0048 a0002c0003t0002g0055 a0003c0005t0006g0173 a0003c0007t0005g0151 a0003c0048t0006g0176 a0004c0004t0001g0145 a0004c0004t0001g0155 a0004c0004t0001g0170 a0004c0004t0002g0160 a0004c0017t0006g0101 a0004c0018t0001g0179 a0004c0018t0002g0154 a0005c0008t0001g0052 a0005c0008t0006g0175 a0005c0022t0001g0120 a0005c0022t0005g0119 a0005c0024t0001g0054 a0006c0010t0006g0180 a0007c0009t0001g0121 a0007c0009t0001g0157 a0008c0011t0001g0153 a0012c0063t0001g0152 a0013c0016t0002g0059 a0014c0062t0007g0171 a0015c0038t0001g0061 a0017c0027t0007g0168 a0019c0026t0001g0060 a0021c0054t0001g0049 a0025c0033t0007g0174 a0027c0045t0007g0172 a0032c0067t0001g0056 a0034c0036t0001g0057 a0036c0074t0001g0177 a0037c0078t0004g0051 a0038c0051t0001g0150	46	188	0.2447	107	c.-12 others(126): Show c.-12+17837_-12+17943dupGCATCAGATGCACTAGGTGTGCCACT GCTAGGACCACTCAGTATGTAGCTCTTGTGTCTCCCATGATGTATTATCT GCACAGTTAGTGAGAGTCTGTCTTATAGACA	ARHGEF28	ENSG00000214944.10	transcript	ENST00000513042.7	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
ARSF_chrX_3036471_3117727	3073533	A A	ATATAGTA others(100): Show ATATAGTATATAGTATATAGTATATAGTATATAGTATATAGTATATACTA TATACTATATATTATAAATATATACATATATTTATATGTTATATATAATA TATAATAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	193	0.0052	107	c.161 others(124): Show c.161+1358_161+1359insTATAGTATATAGTATATAGTATATAGTA TATAGTATATAGTATATACTATATACTATATATTATAAATATATACATAT ATTTATATGTTATATATAATATATAATAT	ARSF	ENSG00000062096.15	transcript	ENST00000381127.6	protein_coding	3/10			chrX	TogoVar
ASAP1_chr8_130047104_130448674	130049776	G G	GGGAACAC others(100): Show GGGAACACATGGAGGGCAGAGGGGGAACACATGGGGGCAGAGGGGGAACA CATGGGGGCAGAGGGGGAACACATGGGGGCAGAGGGGGAACACATGGGGG GCAGAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp1 HG01358.hp1 HG02738.hp2 HG01071.hp1 HG01358.hp1 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0181 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0181 a0001c0001t0002g0183 a0001c0001t0002g0184	3	308	0.0097	107	c.49 others(118): Show c.4954_*4955insTCCTCTGCCCCCCATGTGTTCCCCCTCTGCCCCC ATGTGTTCCCCCTCTGCCCCCATGTGTTCCCCCTCTGCCCCCATGTGTTC CCCCTCTGCCCTCCATGTGTTCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2327		chr8	TogoVar
ASB5_chr4_176208673_176274222	176218253	T T	TATATATA others(100): Show TATATATATTTGTATGATATATATATTTGTATGATATATAAATATATATT TGTATGATATATAAATATATATGTATGATATATAAATATATATTTGTATG ATATATAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02647.hp1 HG02970.hp1 others(1): Show HG02630.hp1 HG02647.hp1 HG02970.hp1 NA19043.hp2	a0001 a0005 a0001 a0005	a0001c0005 a0005c0009 a0001c0005 a0005c0009	a0001c0005t0001 a0005c0009t0001 a0001c0005t0001 a0005c0009t0001	a0001c0005t0001g0192 a0001c0005t0001g0305 a0001c0005t0001g0306 others(1): Show a0001c0005t0001g0192 a0001c0005t0001g0305 a0001c0005t0001g0306 a0005c0009t0001g0186	4	410	0.0098	107	c.671 others(124): Show c.671-1245_671-1244insTTATATATCATACAAATATATATTTATA TATCATACATATATATTTATATATCATACAAATATATATTTATATATCAT ACAAATATATATATCATACAAATATATAT	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
ATF1_chr12_50759101_50826162	50823638	T T	TTATATAT others(100): Show TTATATATATAATCTATATTATATTATATATAATATAGATTATATATATA ATCTATATTATATATAATATAGATTATATATATAATCTATATTATATAAT ATATAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG03453.hp1 NA21309.hp1 HG02486.hp1 HG03453.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0296 a0001c0002t0007g0297 a0001c0002t0007g0298 a0001c0002t0007g0296 a0001c0002t0007g0297 a0001c0002t0007g0298	3	382	0.0079	107	c.38 others(118): Show c.3859_*3860insTATATATATAATCTATATTATATTATATATAATA TAGATTATATATATAATCTATATTATATATAATATAGATTATATATATAA TCTATATTATATAATATATAATA	ATF1	ENSG00000123268.9	transcript	ENST00000262053.8	protein_coding		2477		chr12	TogoVar
ATP10A_chr15_25673712_25868327	25758208	C C	CCACCTGC others(100): Show CCACCTGCTCCACCCTAACTCATTCGATCACCTGCTCCACCCTAACTCAT TCCGATCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCCTTACTC ATTCTGAT	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0014 a0002c0002t0001g0014	1	300	0.0033	107	c.655 others(126): Show c.655-22068_655-22067insATCAGAATGAGTAAGGGTGGAGCAGG TGGTCGGAATGAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCA GGTGATCGAATGAGTTAGGGTGGAGCAGGTG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP13A3_chr3_194397677_194492002	194421136	A A	ATATATAG others(100): Show ATATATAGTATATATATATATATATATAGTTTATATATATATAGTTTATA TATATAAACTATATATATATAAACTATATATATATATATACTATATATAT ATATATAT	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA18993.hp1 HG02083.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0024 a0001c0001t0008 a0001c0001t0024	a0001c0001t0008g0147 a0001c0001t0024g0148 a0001c0001t0008g0147 a0001c0001t0024g0148	2	304	0.0066	107	c.331 others(126): Show c.3314-1170_3314-1169insATATATATATATATATAGTATATATA TATATATAGTTTATATATATATAGTTTATATATATAAACTATATATATAT AAACTATATATATATATATATATACTATATA	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
ATP9B_chr18_79064394_79383283	79309071	G G	GAGTAGTG others(100): Show GAGTAGTGATCCTCCGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCC AGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCTCCGCAGGTAGAAGGT CAGGGGCT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03209.hp1 HG02451.hp1 HG03209.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0016 a0001c0001 a0005c0016	a0001c0001t0001 a0005c0016t0001 a0001c0001t0001 a0005c0016t0001	a0001c0001t0001g0082 a0005c0016t0001g0169 a0001c0001t0001g0082 a0005c0016t0001g0169	2	298	0.0067	107	c.177 others(126): Show c.1773+1837_1773+1838insAGTAGTGATCCTCCGCAGGTAGAAGG TCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGA GTGATCCTCCGCAGGTAGAAGGTCAGGGGCT	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29			chr18	TogoVar
B3GNTL1_chr17_82937149_83056770	82968435	A A	AGCAACAG others(100): Show AGCAACAGTGAAGGGAGGCAGTAACCAGTGTGCATGGTGCACAGATGTCT GTCAGCAACAGGGAAGGGAGGCCAGTCACCAGTGTGCACGGTGCACAGAT GTCTGTCG	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA19043.hp2 HG03130.hp2 NA19043.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0030 a0001c0001 a0003c0030	a0001c0001t0011 a0003c0030t0011 a0001c0001t0011 a0003c0030t0011	a0001c0001t0011g0067 a0003c0030t0011g0140 a0001c0001t0011g0067 a0003c0030t0011g0140	2	266	0.0075	107	c.460 others(124): Show c.460-2690_460-2689insCGACAGACATCTGTGCACCGTGCACACT GGTGACTGGCCTCCCTTCCCTGTTGCTGACAGACATCTGTGCACCATGCA CACTGGTTACTGCCTCCCTTCACTGTTGC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83032512	A A	AGGTCAGA others(100): Show AGGTCAGACCAGGCCAGGCCTCCGACGCAGACCGAACTCGGGAGCTGAAC AACCAGGTCAGACCAGGCCAGGCCTCCGACCCAGACCGAGCTCGGGAGCT GAACAACG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03579.hp1 NA19240.hp2 HG03453.hp2 HG03579.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0014 a0001c0002 a0001c0014	a0001c0002t0016 a0001c0014t0018 a0001c0002t0016 a0001c0014t0018	a0001c0002t0016g0134 a0001c0002t0016g0135 a0001c0014t0018g0049 a0001c0002t0016g0134 a0001c0002t0016g0135 a0001c0014t0018g0049	3	266	0.0113	107	c.297 others(124): Show c.297+2522_297+2523insCGTTGTTCAGCTCCCGAGCTCGGTCTGG GTCGGAGGCCTGGCCTGGTCTGACCTGGTTGTTCAGCTCCCGAGTTCGGT CTGCGTCGGAGGCCTGGCCTGGTCTGACC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
BAIAP3_chr16_1328645_1354439	1345592	C C	CGCAACCC others(100): Show CGCAACCCCAGCCTCCTCCGCCTCCCCAGCCTCCCCCTCAACCCCAGCCT CCCGGCCTCCTCCGCAACCCCAGCCTCCCCAGCCTCCCCAGCAACCCCAG CCTCCCCA	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0018 a0018	a0018c0032 a0018c0032	a0018c0032t0001 a0018c0032t0001	a0018c0032t0001g0073 a0018c0032t0001g0073	1	358	0.0028	107	c.206 others(124): Show c.2065-138_2065-137insCGCCTCCCCAGCCTCCCCCTCAACCCCA GCCTCCCGGCCTCCTCCGCAACCCCAGCCTCCCCAGCCTCCCCAGCAACC CCAGCCTCCCCAGCAACCCCAGCCTCCTC	BAIAP3	ENSG00000007516.15	transcript	ENST00000426824.8	protein_coding	22/33		INFO_REALIGN_3_PRIME	chr16	TogoVar
BCL3_chr19_44743708_44765044	44756600	G G	GGTCTGAG others(100): Show GGTCTGAGGGAGGAGGGACTGGTGCCTGGACTCCTGGGTCTGATGGAGGA GGGCTGCGGGCCTGGGATCCGGGGTCTGATGGAGGAGGGCTGGGTCCTGG GCTCCTGA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02630.hp2 HG02818.hp2 others(1): Show HG02572.hp2 HG02630.hp2 HG02818.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0116 a0001c0001t0006g0074 a0001c0001t0006g0092 others(1): Show a0001c0001t0001g0116 a0001c0001t0006g0074 a0001c0001t0006g0092 a0001c0001t0006g0095	4	344	0.0116	107	c.519 others(122): Show c.519+276_519+277insACTGGTGCCTGGACTCCTGGGTCTGATGGA GGAGGGCTGCGGGCCTGGGATCCGGGGTCTGATGGAGGAGGGCTGGGTCC TGGGCTCCTGAGTCTGAGGGAGGAGGG	BCL3	ENSG00000069399.15	transcript	ENST00000164227.10	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
BFSP2_chr3_133395056_133480208	133425971	G G	GGGGAGGG others(100): Show GGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAAG GGGAGGGGAAGGGGAGGGGAAGGGGAGGGGAGGGGGAGGGGAGGGGAAGG GGAGGGGA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02572.hp2 HG02717.hp1 others(6): Show HG02451.hp2 HG02572.hp2 HG02717.hp1 HG02809.hp1 HG02886.hp1 HG02896.hp2 HG02976.hp2 HG06807.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0008 a0001c0001t0001g0024 a0001c0001t0001g0027 others(6): Show a0001c0001t0001g0008 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0129 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0249 a0001c0001t0001g0268 a0001c0002t0001g0053	9	276	0.0326	107	c.490 others(126): Show c.490-21343_490-21342insAGGGGAGGGGGAGGGGAGGGGGAGGG GAGGGGGAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGG AGGGGGAGGGGAGGGGAAGGGGAGGGGAGGG	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BRCA1_chr17_43039295_43130364	43100560	A A	ATATATAT others(100): Show ATATATATATAACATATATATAACATATATATGTTATATATATATATAAC ATATATATAACATATATATGTTATATATATATATAACATATATATAACAT ATATATGT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0145 a0003c0003t0002g0145	1	276	0.0036	107	c.442 others(122): Show c.442-681_442-680insACATATATATGTTATATATATGTTATATAT ATATATAACATATATATGTTATATATATGTTATATATATATATAACATAT ATATGTTATATATATGTTATATATATA	BRCA1	ENSG00000012048.25	transcript	ENST00000357654.9	protein_coding	6/22			chr17	TogoVar
BRSK2_chr11_1384934_1467689	1396185	T T	TCTCTTCC others(100): Show TCTCTTCCCTTCCACCCACGTCCCCCACTCCTGGTCCCTCTTCCCTTCCA CCCACGTCCCCCACTCCTGGTCCCTCTTCCCTTCCACCACGTCCCCCACT CCTGGTCC	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0026 a0001c0003t0026	a0001c0003t0026g0054 a0001c0003t0026g0054	1	360	0.0028	107	c.91+ others(122): Show c.91+5897_91+5898insACGTCCCCCACTCCTGGTCCCTCTTCCCTT CCACCCACGTCCCCCACTCCTGGTCCCTCTTCCCTTCCACCCACGTCCCC CACTCCTGGTCCCTCTTCCCTTCCACC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BTBD19_chr1_44803523_44820585	44816446	G G	GTGAGTAT others(100): Show GTGAGTATATTATATATACACATAGATGTGTGTATATTATATATACACAT AGATGTGTGTATATATTATATATATACATAGATGTGTGTGTATATATATA CACATAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0010 a0001c0001t0019g0010	1	436	0.0023	107	c.26 others(118): Show c.2674_*2675insTGAGTATATTATATATACACATAGATGTGTGTAT ATTATATATACACATAGATGTGTGTATATATTATATATATACATAGATGT GTGTGTATATATATACACATAGA	BTBD19	ENSG00000222009.9	transcript	ENST00000450269.6	protein_coding		862		chr1	TogoVar
BTN1A1_chr6_26495303_26515425	26514199	T T	TTATATAT others(100): Show TTATATATATATACACACACATATATAATATATGTGCACATATATATATT ATATATATATATTATATATATATAATATATATATATATATATATATATAT ATATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 NA18955.hp1 NA18973.hp2 others(13): Show HG02717.hp1 NA18955.hp1 NA18973.hp2 NA18976.hp1 NA18984.hp1 NA18989.hp1 NA18990.hp1 NA18992.hp1 NA18995.hp1 NA18999.hp1 NA19054.hp2 NA19072.hp1 NA19078.hp1 NA19079.hp1 NA19087.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0005	16	414	0.0387	107	c.50 others(118): Show c.5025_*5026insTATATATATATACACACACATATATAATATATGT GCACATATATATATTATATATATATATTATATATATATAATATATATATA TATATATATATATATATATTATA	BTN1A1	ENSG00000124557.14	transcript	ENST00000684113.1	protein_coding		3775		chr6	TogoVar
C11orf65_chr11_108377755_108472529	108408671	C C	CAATAAAT others(100): Show CAATAAATAAAATAAAATAAAATAAAATAAAATAAAAAATTAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAA	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	330	0.0030	107	c.175 others(124): Show c.175-1523_175-1522insTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAATTTTTTATT TTATTTTATTTTATTTTATTTTATTTATT	C11orf65	ENSG00000166323.13	transcript	ENST00000393084.6	protein_coding	3/8			chr11	TogoVar
C11orf65_chr11_108377755_108472529	108408674	T T	TAAATAAA others(100): Show TAAATAAAATAAAATAAAATAAAATAAAATAAAAAATTAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAATA	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02004.hp1 NA18942.hp2 others(2): Show HG01975.hp2 HG02004.hp1 NA18942.hp2 NA18947.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0266 a0001c0001t0001g0267 others(2): Show a0001c0001t0001g0217 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0278 a0001c0001t0001g0283	5	330	0.0152	107	c.175 others(124): Show c.175-1526_175-1525insTATTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAATTTTTT ATTTTATTTTATTTTATTTTATTTTATTT	C11orf65	ENSG00000166323.13	transcript	ENST00000393084.6	protein_coding	3/8			chr11	TogoVar
C11orf65_chr11_108377755_108472529	108408674	T T	TAAATAAA others(100): Show TAAATAAAATAAAATAAAATAAAATAAAATAAAAAATTAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA ATAAAATA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02738.hp2 HG00544.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0303 a0001c0001t0001g0232 a0001c0001t0001g0303	2	330	0.0061	107	c.175 others(124): Show c.175-1526_175-1525insTATTTTATTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAATTTTTT ATTTTATTTTATTTTATTTTATTTTATTT	C11orf65	ENSG00000166323.13	transcript	ENST00000393084.6	protein_coding	3/8			chr11	TogoVar
C11orf65_chr11_108377755_108472529	108408674	T T	TAAATAAA others(100): Show TAAATAAAATAAAATAAAATAAAATAAAATAAAAAATTAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAATAAA ATAAAATA	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18994.hp2 NA19080.hp2 NA18986.hp1 NA18994.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0230 a0001c0001t0001g0273 a0001c0001t0001g0186 a0001c0001t0001g0230 a0001c0001t0001g0273	3	330	0.0091	107	c.175 others(124): Show c.175-1526_175-1525insTATTTTATTTTATTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAATTTTTT ATTTTATTTTATTTTATTTTATTTTATTT	C11orf65	ENSG00000166323.13	transcript	ENST00000393084.6	protein_coding	3/8			chr11	TogoVar
C11orf65_chr11_108377755_108472529	108408674	T T	TAAATAAA others(100): Show TAAATAAAATAAAATAAAATAAAATAAAATAAAAAATTAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAATAAAATAAA ATAAAATA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG03195.hp1 NA18906.hp2 HG02135.hp2 HG03195.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0246 a0001c0001t0001g0262 a0001c0001t0003g0004 a0001c0001t0001g0246 a0001c0001t0001g0262 a0001c0001t0003g0004	3	330	0.0091	107	c.175 others(124): Show c.175-1526_175-1525insTATTTTATTTTATTTTATTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAATTTTTT ATTTTATTTTATTTTATTTTATTTTATTT	C11orf65	ENSG00000166323.13	transcript	ENST00000393084.6	protein_coding	3/8			chr11	TogoVar
C13orf42_chr13_51077119_51116274	51098834	G G	GTGCCTGA others(100): Show GTGCCTGATGCACTGAAATAACTATTTGTTGAGTGAAGGAATGTACACCA TTATATACATGCCATTACCTAATTATATTTTCCAACCAATTTATATGTTG CTAATTTA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02630.hp2 HG02723.hp2 HG02622.hp2 HG02630.hp2 HG02723.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0005 a0001c0001 a0007c0005	a0001c0001t0010 a0007c0005t0010 a0001c0001t0010 a0007c0005t0010	a0001c0001t0010g0062 a0007c0005t0010g0074 a0001c0001t0010g0062 a0007c0005t0010g0074	3	452	0.0066	107	c.415 others(126): Show c.415-10760_415-10759insTAAATTAGCAACATATAAATTGGTTG GAAAATATAATTAGGTAATGGCATGTATATAATGGTGTACATTCCTTCAC TCAACAAATAGTTATTTCAGTGCATCAGGCA	C13orf42	ENSG00000226792.8	transcript	ENST00000563710.7	protein_coding	1/3			chr13	TogoVar
C3_chr19_6672704_6725650	6693998	T T	TGAGGAGA others(100): Show TGAGGAGAGGCGGGGTCTCATGAAGAGCCTGGCCTGGGAGGAGTCAGGGC CTCAGAGGGCGTGGCCTTGAGAAGAGGTGGGGGGCCCTCAGGGGATGGGC ATGGCCTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01069.hp2 HG01071.hp2 others(27): Show HG00099.hp1 HG01069.hp2 HG01071.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01256.hp1 HG01358.hp1 HG01934.hp1 HG01975.hp1 HG02109.hp2 HG02145.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02965.hp2 HG03209.hp2 HG03453.hp1 HG03540.hp2 HG03654.hp1 HG03710.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0005 a0001c0010 others(10): Show a0001c0002 a0001c0005 a0001c0010 a0001c0014 a0001c0019 a0001c0025 a0001c0054 a0001c0060 a0001c0072 a0001c0093 a0002c0015 a0002c0026 a0002c0037	a0001c0002t0001 a0001c0005t0001 a0001c0010t0001 others(10): Show a0001c0002t0001 a0001c0005t0001 a0001c0010t0001 a0001c0014t0001 a0001c0019t0001 a0001c0025t0001 a0001c0054t0001 a0001c0060t0001 a0001c0072t0001 a0001c0093t0001 a0002c0015t0001 a0002c0026t0001 a0002c0037t0001	a0001c0002t0001g0173 a0001c0005t0001g0203 a0001c0010t0001g0006 others(25): Show a0001c0002t0001g0173 a0001c0005t0001g0203 a0001c0010t0001g0006 a0001c0010t0001g0008 a0001c0010t0001g0012 a0001c0010t0001g0300 a0001c0010t0001g0301 a0001c0010t0001g0336 a0001c0010t0001g0338 a0001c0014t0001g0200 a0001c0019t0001g0022 a0001c0019t0001g0023 a0001c0019t0001g0024 a0001c0019t0001g0337 a0001c0025t0001g0235 a0001c0025t0001g0293 a0001c0025t0001g0294 a0001c0054t0001g0233 a0001c0060t0001g0131 a0001c0072t0001g0232 a0001c0093t0001g0360 a0002c0015t0001g0162 a0002c0015t0001g0166 a0002c0015t0001g0308 a0002c0026t0001g0161 a0002c0026t0001g0164 a0002c0037t0001g0153 a0002c0037t0001g0165	30	370	0.0811	107	c.315 others(124): Show c.3154+432_3154+433insCAGGCCATGCCCATCCCCTGAGGGCCCC CCACCTCTTCTCAAGGCCACGCCCTCTGAGGCCCTGACTCCTCCCAGGCC AGGCTCTTCATGAGACCCCGCCTCTCCTC	C3	ENSG00000125730.18	transcript	ENST00000245907.11	protein_coding	24/40			chr19	TogoVar
C3_chr19_6672704_6725650	6694041	T T	TCAGGGCC others(100): Show TCAGGGCCTCAGAGGGCGTGGCCTTGAGAAGAGGTGGGGGGCCCTCAGGG GATGGGCATGGCCTTGAGGAGAGGCGGGGTCTCATTAAGAGCCTGGCCTG GGAGGAGG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0003 a0003	a0003c0036 a0003c0036	a0003c0036t0001 a0003c0036t0001	a0003c0036t0001g0168 a0003c0036t0001g0168	1	370	0.0027	107	c.315 others(124): Show c.3154+389_3154+390insCCTCCTCCCAGGCCAGGCTCTTAATGAG ACCCCGCCTCTCCTCAAGGCCATGCCCATCCCCTGAGGGCCCCCCACCTC TTCTCAAGGCCACGCCCTCTGAGGCCCTG	C3	ENSG00000125730.18	transcript	ENST00000245907.11	protein_coding	24/40			chr19	TogoVar
C3_chr19_6672704_6725650	6694196	G G	GGGATGGG others(100): Show GGGATGGGCATGGCCTTGAGGAGAGGCGGGGTCTCATGAAGAGCCTGGCC TGGGAGGAGTCAGGGCCTCAGAGGGCGTGGCCTTGAGAAGAGGTGGGGGG CCCTCAGA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02717.hp2 HG02970.hp2 others(3): Show HG01891.hp2 HG02717.hp2 HG02970.hp2 HG02976.hp1 HG03139.hp1 NA21309.hp2	a0001 a0001	a0001c0011 a0001c0012 a0001c0063 a0001c0011 a0001c0012 a0001c0063	a0001c0011t0001 a0001c0012t0001 a0001c0063t0004 a0001c0011t0001 a0001c0012t0001 a0001c0063t0004	a0001c0011t0001g0068 a0001c0011t0001g0217 a0001c0011t0001g0343 others(3): Show a0001c0011t0001g0068 a0001c0011t0001g0217 a0001c0011t0001g0343 a0001c0011t0001g0347 a0001c0012t0001g0339 a0001c0063t0004g0362	6	370	0.0162	107	c.315 others(124): Show c.3154+234_3154+235insTCTGAGGGCCCCCCACCTCTTCTCAAGG CCACGCCCTCTGAGGCCCTGACTCCTCCCAGGCCAGGCTCTTCATGAGAC CCCGCCTCTCCTCAAGGCCATGCCCATCC	C3	ENSG00000125730.18	transcript	ENST00000245907.11	protein_coding	24/40			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13413888	A A	AAGAAAAG others(100): Show AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAG	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0127 a0002c0004t0003g0127	1	218	0.0046	107	c.539 others(126): Show c.539+38987_539+38988insCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar

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