Joint Open Genome and Omics Platform (JoGo)

Search Results

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
S1PR4_chr19_3173769_3185332	3177973	ATCGGGCT others(149): Show ATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTC TGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGT TTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTG CAACGCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	418	0.0024	-156	c.-81 others(9): Show c.-819_-664del	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		795		chr19	TogoVar
S1PR4_chr19_3173769_3185332	3178123	CAACGCCT others(149): Show CAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGG GCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGC CTCAGTTTCCCCTTCTGCAACGCACCGGGCTCTCTGGGCCTCAGTTTCCT CTTCTGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	418	0.0024	-156	c.-66 others(9): Show c.-669_-514del	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		645		chr19	TogoVar
SDHA_chr5_213320_262082	259489	AGCTCCGC others(149): Show AGCTCCGCCTCCTGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGCCAG AGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCT CCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCCGAGCA TTACCGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG02129.hp1 HG03017.hp2 others(7): Show HG00099.hp2 HG02129.hp1 HG03017.hp2 HG03239.hp2 HG03942.hp2 HG04115.hp2 NA18990.hp2 NA18998.hp1 NA19062.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0010 others(6): Show a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0010 a0001c0001t0002g0031 a0001c0001t0002g0035 a0001c0001t0002g0042 a0001c0001t0002g0045 a0001c0001t0002g0071 a0001c0001t0002g0077	10	266	0.0376	-156	c.30 others(11): Show c.3070_*3225del	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		2408		chr5	TogoVar
SDHA_chr5_213320_262082	261344	AGCTCCGC others(149): Show AGCTCCGCCTCCCGGCAGAGCATTACCGTGTGAGCTCCGCCTCCCGGCAG AGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGCT CCGCCTCCCGGCAGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCA TTACCGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0002 a0005c0006t0002	a0005c0006t0002g0064 a0005c0006t0002g0064	1	266	0.0038	-156	c.49 others(11): Show c.4925_*5080del	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		4263		chr5	TogoVar
SIGIRR_chr11_400716_419999	400994	GGACCCCG others(149): Show GGACCCCGCTCACCCCGGACCCCGCTCACACCCGCCCCGCTCACACCCGG CCCCGCTCACCCCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGGCCCC GCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCT CACACCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG01258.hp1 HG02622.hp1 HG00099.hp1 HG01258.hp1 HG02622.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0010 a0001c0001 a0008c0010	a0001c0001t0001 a0008c0010t0001 a0001c0001t0001 a0008c0010t0001	a0001c0001t0001g0214 a0001c0001t0001g0215 a0008c0010t0001g0053 a0001c0001t0001g0214 a0001c0001t0001g0215 a0008c0010t0001g0053	3	242	0.0124	-156	c.47 others(11): Show c.4746_*4901del	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4721		chr11	TogoVar
SIPA1L2_chr1_232392965_232635133	232415796	GAGTCAGT others(149): Show GAGTCAGTCAGTCAGAACACGGGCACCACTGTCCCTCCCAGAGTCAGTCA GAACACGGGCACCACTGTCCCTCCCAGAGTCAGTCAGAACACGGGCACCA CTGTCCCTCCCAGAGTCAGTCAGTCAGAACACGGGCACCACTGCCCCTCC CAGAGTC	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03453.hp2 HG02257.hp2 HG03453.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0006 a0002c0008t0026 a0002c0008t0006 a0002c0008t0026	a0002c0008t0006g0009 a0002c0008t0026g0292 a0002c0008t0006g0009 a0002c0008t0026g0292	2	292	0.0069	-156	c.463 others(17): Show c.4631-327_4631-172del	SIPA1L2	ENSG00000116991.12	transcript	ENST00000674635.1	protein_coding	18/22			chr1	TogoVar
SLC12A7_chr5_1045384_1117063	1071835	CCCCCAGC others(149): Show CCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGC ACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGC ATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACT TATGCAG	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0071 a0001c0003t0003g0071	1	118	0.0085	-156	c.224 others(19): Show c.2241+1642_2241+1797del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC39A14_chr8_22362278_22427736	22396421	GGAGAGAG others(149): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGGGGGGGGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGGGGGGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0035 a0001c0003t0003g0035	1	324	0.0031	-156	c.-15 others(17): Show c.-15-8252_-15-8097del	SLC39A14	ENSG00000104635.15	transcript	ENST00000359741.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
SLC66A2_chr18_79897420_79956653	79921690	GAACCGAG others(149): Show GAACCGAGTGAGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCGAGGGAG AGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTC AGTGGAGGAGAGACAGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGA GACAGGA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00621.hp1 HG00621.hp2 others(26): Show HG00408.hp2 HG00621.hp1 HG00621.hp2 HG01081.hp1 HG01261.hp2 HG01496.hp1 HG02056.hp2 HG02258.hp2 HG02300.hp1 HG02559.hp1 HG02615.hp2 HG02630.hp2 HG02723.hp2 HG02965.hp1 HG02965.hp2 HG03453.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG04115.hp2 HG04199.hp1 HG06807.hp1 NA18963.hp1 NA18966.hp2 NA18971.hp2 NA18991.hp1 NA19056.hp1 NA19077.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0018 a0001c0001t0020 a0001c0001t0022 a0001c0001t0024 a0001c0001t0027 a0001c0001t0043	a0001c0001t0001g0002 a0001c0001t0001g0019 a0001c0001t0001g0053 others(26): Show a0001c0001t0001g0002 a0001c0001t0001g0019 a0001c0001t0001g0053 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0096 a0001c0001t0003g0323 a0001c0001t0003g0324 a0001c0001t0004g0134 a0001c0001t0008g0215 a0001c0001t0008g0224 a0001c0001t0011g0301 a0001c0001t0011g0308 a0001c0001t0012g0328 a0001c0001t0012g0332 a0001c0001t0013g0040 a0001c0001t0013g0049 a0001c0001t0013g0059 a0001c0001t0013g0117 a0001c0001t0014g0292 a0001c0001t0014g0293 a0001c0001t0014g0294 a0001c0001t0018g0099 a0001c0001t0020g0192 a0001c0001t0022g0310 a0001c0001t0024g0013 a0001c0001t0027g0337 a0001c0001t0043g0291	29	352	0.0824	-156	c.392 others(17): Show c.392-2446_392-2291del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLURP1_chr8_142735949_142747406	142744619	AAGTGGAG others(149): Show AAGTGGAGGATGAATATGGGATGGATGGGGGATGGATGGGGAATGGGTGG AGGATGTATGGGTGGACGGGTGGGGGATGAGTGGAGGATGGGTGGGGGAT GGATAGATGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGGGTAG ATGGATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	402	0.0025	-156	c.-23 others(11): Show c.-2390_-2235del	SLURP1	ENSG00000126233.2	transcript	ENST00000246515.2	protein_coding		2214		chr8	TogoVar
SMOC2_chr6_168436184_168672992	168560494	GCCCTGAG others(149): Show GCCCTGAGATGTGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTC CTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTT TCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCAT TTTCATA	G G	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02109.hp2 HG03579.hp2 HG01261.hp1 HG02109.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0039 a0001c0002t0002g0063 a0001c0002t0002g0067 a0001c0002t0002g0039 a0001c0002t0002g0063 a0001c0002t0002g0067	3	180	0.0167	-156	c.637 others(19): Show c.637+11300_637+11455del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168560546	GCCCTGAG others(149): Show GCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTC CTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTT TCATACCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCAT TTTCATA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 NA19000.hp1 HG01167.hp1 NA19000.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0043 a0001c0002t0002g0055 a0001c0002t0002g0043 a0001c0002t0002g0055	2	180	0.0111	-156	c.637 others(19): Show c.637+11369_637+11524del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168560572	ATTCTTGG others(149): Show ATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACT GCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCA CTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCT CACTGCG	A A	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA19088.hp2 homoSapiens_chm13v2.hp1 NA18944.hp2 NA19088.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0003g0171 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0001t0003g0171 a0001c0002t0002g0019 a0001c0002t0002g0020	3	180	0.0167	-156	c.637 others(19): Show c.637+11421_637+11576del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168560806	GCCCTGAG others(149): Show GCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTC CTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTT TCATACCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCAT TTTCATA	G G	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18990.hp2 NA19091.hp2 NA18973.hp2 NA18990.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0070 a0001c0001t0001g0143 a0001c0002t0002g0015 a0001c0001t0001g0070 a0001c0001t0001g0143 a0001c0002t0002g0015	3	180	0.0167	-156	c.637 others(19): Show c.637+11629_637+11784del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168560832	ATTCTTGG others(149): Show ATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACT GCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCA CTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCT CACTGCG	A A	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0060 a0001c0002t0002g0060	1	180	0.0056	-156	c.637 others(19): Show c.637+11681_637+11836del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561357	CGGAGGAG others(149): Show CGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATT CTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCA TTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTG CGTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01346.hp2 HG01261.hp1 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0146 a0001c0002t0002g0067 a0001c0001t0001g0146 a0001c0002t0002g0067	2	180	0.0111	-156	c.637 others(19): Show c.637+12225_637+12380del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561430	GCCCTGAG others(149): Show GCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTC ATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTT TCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCAT TTTCATA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02129.hp2 HG02970.hp1 others(1): Show HG00280.hp2 HG02129.hp2 HG02970.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0002t0007 a0001c0001t0001 a0001c0002t0002 a0001c0002t0007	a0001c0001t0001g0136 a0001c0002t0002g0007 a0001c0002t0002g0028 others(1): Show a0001c0001t0001g0136 a0001c0002t0002g0007 a0001c0002t0002g0028 a0001c0002t0007g0053	4	180	0.0222	-156	c.637 others(19): Show c.637+12253_637+12408del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561638	GCCCTGAG others(149): Show GCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTC CTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTT TCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCAT TTTCATA	G G	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	180	0.0056	-156	c.637 others(19): Show c.637+12460_637+12615del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561858	GAGGCTCT others(149): Show GAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGAC ACAAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAG ACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTG AGACACA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0162 a0001c0005t0001g0162	1	180	0.0056	-156	c.637 others(19): Show c.637+12668_637+12823del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561877	CGGAGGAG others(149): Show CGGAGGAGGTGTCATTTTCCTGCCCTGAGACACAAGGCTCTCACTGCATT CTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCA TTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACAAGGCTCTCACTG CATTCTT	C C	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0028 a0001c0002t0002g0028	1	180	0.0056	-156	c.637 others(19): Show c.637+12772_637+12927del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168562002	ACCCTGAG others(149): Show ACCCTGAGACACAAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTC CTGCCCTGAGACACAAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTT TCATACCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCAT TTTCCTG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00609.hp2 HG01069.hp1 others(19): Show HG00280.hp2 HG00609.hp2 HG01069.hp1 HG01081.hp1 HG01884.hp1 HG01978.hp1 HG02135.hp2 HG03654.hp2 HG04199.hp1 HG04204.hp2 NA18939.hp1 NA18939.hp2 NA18943.hp2 NA18944.hp2 NA18963.hp2 NA18971.hp2 NA18990.hp2 NA19000.hp2 NA19085.hp2 NA19088.hp2 NA19091.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0001t0015 a0001c0002t0002 a0001c0002t0016	a0001c0001t0001g0071 a0001c0001t0001g0115 a0001c0001t0001g0136 others(19): Show a0001c0001t0001g0071 a0001c0001t0001g0115 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0151 a0001c0001t0001g0158 a0001c0001t0003g0090 a0001c0001t0003g0109 a0001c0001t0003g0171 a0001c0001t0011g0119 a0001c0001t0015g0163 a0001c0002t0002g0007 a0001c0002t0002g0012 a0001c0002t0002g0014 a0001c0002t0002g0015 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0016g0046	22	180	0.1222	-156	c.637 others(19): Show c.637+12849_637+13004del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168562054	GCCCTGAG others(149): Show GCCCTGAGACACAAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTC ATACCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTT TCCTGCCCTGAGACACAAGGCTCTCACTGCATTCTTGGAGGAGGTGTCAT TTTCATA	G G	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	180	0.0056	-156	c.637 others(19): Show c.637+12863_637+13018del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168562137	CGGAGGAG others(149): Show CGGAGGAGGTGTCATTTTCCTGCCCTGAGACACAAGGCTCTCACTGCATT CTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGTG TTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACAAGGCTCTCACTG CATTCTT	C C	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02630.hp1 HG02135.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0154 a0001c0005t0001g0162 a0001c0001t0001g0154 a0001c0005t0001g0162	2	180	0.0111	-156	c.637 others(19): Show c.637+12967_637+13122del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168593930	GCTCCTCC others(149): Show GCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCTCCG AGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATGGCC GAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCGC CGAGCTC	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02895.hp1 HG02970.hp1 HG02109.hp1 HG02895.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0013 a0001c0001 a0001c0002 a0001c0013	a0001c0001t0001 a0001c0002t0007 a0001c0013t0002 a0001c0001t0001 a0001c0002t0007 a0001c0013t0002	a0001c0001t0001g0127 a0001c0002t0007g0053 a0001c0013t0002g0033 a0001c0001t0001g0127 a0001c0002t0007g0053 a0001c0013t0002g0033	3	180	0.0167	-156	c.638 others(17): Show c.638-4879_638-4724del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMYD3_chr1_245744347_246512279	246483974	TACTAGTT others(149): Show TACTAGTTACACCTAAAAACACATCACTTCAACCAAAATACCTAAACCAT TGCACTAGTTACACCTAAAAACACATCACTTCAACCAAAATACCTAAACC ATTGTACTAGTTACACCTAAAAACACATCACTTCAACCAAAATACCTAAA CCATTGC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03209.hp1 NA20129.hp2 HG01243.hp2 HG03209.hp1 NA20129.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0002 a0002c0003t0001 a0002c0003t0002	a0002c0003t0001g0144 a0002c0003t0002g0145 a0002c0003t0002g0147 a0002c0003t0001g0144 a0002c0003t0002g0145 a0002c0003t0002g0147	3	150	0.0200	-156	c.164 others(19): Show c.164+22924_164+23079del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SNTG2_chr2_945849_1372613	1106041	GCAGGGTA others(149): Show GCAGGGTATGGAGAGCTCCTTGGTAATAGTGGACACCTGCTGTCACTCGG GTGCAGGGTATGGAGAGCTCCTTGGTAATAGTGGACACCTGCTGTCACTC GGGTGCAGGGTATGGAGAGCTCCTTGGTAATAGTGGACACATGCTGTCAC TCGGGTT	G G	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0001 a0007c0016t0001	a0007c0016t0001g0135 a0007c0016t0001g0135	1	190	0.0053	-156	c.325 others(17): Show c.325+7664_325+7819del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1106698	GCGTGCTG others(149): Show GCGTGCTGTCACTCGGGTGCAGGGTGTGGAGAGCTCCTTGATAATAATGG ACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGTAAGAGT GGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGTAAGA GTGGTCA	G G	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0069 a0001c0002t0001g0069	1	190	0.0053	-156	c.325 others(17): Show c.325+8313_325+8468del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1107004	GTGGACAC others(149): Show GTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTGCTTGGTAA TAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGT AAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTG ATAATAA	G G	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0116 a0004c0004t0001g0116	1	190	0.0053	-156	c.325 others(17): Show c.325+8635_325+8790del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1107106	GAGTGGAC others(149): Show GAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGAT AATAATGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTG GTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCT TGGTAAT	G G	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0022 a0001c0002t0001g0022	1	190	0.0053	-156	c.325 others(17): Show c.325+8744_325+8899del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1107320	ACACGTGC others(149): Show ACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTGCTTGGTAATAGT GGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGTAATA GTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGTAA GAGTGGT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0108 a0003c0007t0001g0108	1	190	0.0053	-156	c.325 others(17): Show c.325+8999_325+9154del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1108146	GAGTGGAC others(149): Show GAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTGCTTGGT AATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTG GTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCT TGGTAAT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02559.hp2 HG02922.hp2 others(2): Show HG01891.hp2 HG02559.hp2 HG02922.hp2 NA19030.hp1 NA19043.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0007	a0001c0001 a0002c0033 a0003c0008 others(2): Show a0001c0001 a0002c0033 a0003c0008 a0005c0015 a0007c0016	a0001c0001t0001 a0002c0033t0001 a0003c0008t0001 others(2): Show a0001c0001t0001 a0002c0033t0001 a0003c0008t0001 a0005c0015t0001 a0007c0016t0001	a0001c0001t0001g0102 a0002c0033t0001g0119 a0003c0008t0001g0100 others(2): Show a0001c0001t0001g0102 a0002c0033t0001g0119 a0003c0008t0001g0100 a0005c0015t0001g0103 a0007c0016t0001g0005	5	190	0.0263	-156	c.325 others(17): Show c.325+9779_325+9934del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1108250	GAGTGGAC others(149): Show GAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGT AATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTG GTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTGCT TGGTAAT	G G	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02922.hp1 HG02165.hp2 HG02922.hp1	a0017 a0020 a0017 a0020	a0017c0031 a0020c0032 a0017c0031 a0020c0032	a0017c0031t0001 a0020c0032t0001 a0017c0031t0001 a0020c0032t0001	a0017c0031t0001g0110 a0020c0032t0001g0059 a0017c0031t0001g0110 a0020c0032t0001g0059	2	190	0.0105	-156	c.325 others(18): Show c.325+9892_325+10047del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1108302	TAGTGGAC others(149): Show TAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGT AAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTGCTTG GTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCT TGGTAAG	T T	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02717.hp2 HG03579.hp1 others(1): Show HG02300.hp1 HG02717.hp2 HG03579.hp1 NA18990.hp2	a0001 a0004 a0008 others(1): Show a0001 a0004 a0008 a0010	a0001c0002 a0004c0004 a0008c0011 others(1): Show a0001c0002 a0004c0004 a0008c0011 a0010c0012	a0001c0002t0001 a0004c0004t0001 a0008c0011t0001 others(1): Show a0001c0002t0001 a0004c0004t0001 a0008c0011t0001 a0010c0012t0001	a0001c0002t0001g0027 a0004c0004t0001g0116 a0008c0011t0001g0004 others(1): Show a0001c0002t0001g0027 a0004c0004t0001g0116 a0008c0011t0001g0004 a0010c0012t0001g0147	4	190	0.0211	-156	c.325 others(18): Show c.325+9935_325+10090del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1108832	GTGCTGTC others(149): Show GTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGTAAGAGTGGAC ACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGTAAGAGTGG ACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGTAAGAGT GGACACA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00438.hp1 others(48): Show HG00099.hp2 HG00323.hp1 HG00438.hp1 HG00642.hp1 HG00673.hp2 HG00735.hp1 HG01099.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01256.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01891.hp1 HG02015.hp1 HG02071.hp1 HG02148.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp2 HG02630.hp2 HG02683.hp2 HG02735.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG03225.hp2 HG03453.hp1 HG03540.hp1 HG03654.hp1 HG03927.hp1 NA18522.hp2 NA18942.hp1 NA18943.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18968.hp1 NA18970.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp2 NA19084.hp2 NA20129.hp2 NA20752.hp2 NA21309.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0012 a0017	a0001c0001 a0002c0003 a0002c0005 others(12): Show a0001c0001 a0002c0003 a0002c0005 a0003c0007 a0003c0008 a0003c0026 a0004c0004 a0005c0015 a0006c0009 a0006c0028 a0007c0016 a0009c0013 a0010c0012 a0012c0019 a0017c0031	a0001c0001t0001 a0001c0001t0003 a0002c0003t0001 others(14): Show a0001c0001t0001 a0001c0001t0003 a0002c0003t0001 a0002c0005t0001 a0003c0007t0001 a0003c0007t0002 a0003c0008t0001 a0003c0026t0001 a0004c0004t0001 a0005c0015t0001 a0006c0009t0001 a0006c0028t0001 a0007c0016t0001 a0009c0013t0001 a0010c0012t0001 a0012c0019t0001 a0017c0031t0001	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0024 others(48): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0039 a0001c0001t0001g0090 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0136 a0001c0001t0001g0173 a0001c0001t0001g0187 a0001c0001t0003g0120 a0002c0003t0001g0021 a0002c0003t0001g0051 a0002c0003t0001g0064 a0002c0003t0001g0093 a0002c0003t0001g0099 a0002c0003t0001g0113 a0002c0003t0001g0158 a0002c0003t0001g0161 a0002c0003t0001g0171 a0002c0003t0001g0174 a0002c0003t0001g0175 a0002c0005t0001g0014 a0003c0007t0001g0018 a0003c0007t0002g0075 a0003c0008t0001g0095 a0003c0008t0001g0106 a0003c0026t0001g0097 a0004c0004t0001g0040 a0004c0004t0001g0047 a0004c0004t0001g0065 a0004c0004t0001g0089 a0004c0004t0001g0144 a0004c0004t0001g0150 a0004c0004t0001g0169 a0005c0015t0001g0037 a0005c0015t0001g0153 a0006c0009t0001g0011 a0006c0009t0001g0049 a0006c0009t0001g0094 a0006c0009t0001g0121 a0006c0028t0001g0117 a0007c0016t0001g0135 a0009c0013t0001g0164 a0010c0012t0001g0096 a0010c0012t0001g0166 a0012c0019t0001g0122 a0012c0019t0001g0159 a0017c0031t0001g0110	51	190	0.2684	-156	c.325 others(19): Show c.325+10455_325+10610del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPIRE2_chr16_89823475_89876319	89852036	CTGGCCCA others(149): Show CTGGCCCATCTTCCATCCTCCCCCAACCCGCCAGATCCCCTGGCCCATCT TCCATCCTCCCCCCACCCACCAGATCCCATGGCCCATCTTCCATCCTCCC CCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTCTCCCCACCCACCA GATCCCA	C C	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	356	0.0028	-156	c.645 others(17): Show c.645+1400_645+1555del	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852189	CCCATGGC others(149): Show CCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCATGGCCCA TCTTCCATCCTCCCCCCACCCACCAGATCCCATGGCCCATCTTCCATCCT CTCCCCACCCACCAGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCC CCATATT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0300 a0003c0005t0001g0300	1	356	0.0028	-156	c.645 others(17): Show c.645+1600_645+1755del	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852419	AGATCCCA others(149): Show AGATCCCATGGCCCATCTTCCATCCTCTCCCCACCCACCAGATCCCATGG CCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCATGGCCCATCTTCCA TCCTCCCTCCACCCCCCGGATCCCCTGGCCCATCTTCCGTCCTCTCCCCA CCCCCTG	A A	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	356	0.0028	-156	c.645 others(17): Show c.645+1766_646-1705del	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
STIM1_chr11_3850664_4098208	3921622	TTCTTTGA others(149): Show TTCTTTGATACTCTTTCCATCAAGGGGTGGAGTCTAATTCCTCTCCCCTT GAGCTGGACCTCACTTTCTATTCTAACAAATAGAATAAAGTGAACATGAT AGTGTACAACTTCAGAAATCAGGTCATAAAAGGCACTACAGTTTCCTTTT TGCTTTC	T T	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0031	1	300	0.0033	-156	c.140 others(19): Show c.140-45926_140-45771del	STIM1	ENSG00000167323.13	transcript	ENST00000526596.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
STK32C_chr10_132202492_132312950	132267658	TGTGTGTG others(149): Show TGTGTGTGTGTCGGTGTGTGTGCATGCATGTGCATGCAGGTTCAGCTCTA TGTCTATGTGCATGCATGTCCCACATCGTGTGTGTGTGTGTCGGTGCGTG TGCATGCATGTGCATGCAGGTTCAGCTCTATGCCTGTGTGCATGCATGTC CCACATC	T T	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03130.hp2 HG03486.hp2 HG02717.hp1 HG03130.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0011 a0001c0001 a0001c0002 a0001c0011	a0001c0001t0001 a0001c0002t0003 a0001c0011t0011 a0001c0001t0001 a0001c0002t0003 a0001c0011t0011	a0001c0001t0001g0281 a0001c0002t0003g0356 a0001c0011t0011g0357 a0001c0001t0001g0281 a0001c0002t0003g0356 a0001c0011t0011g0357	3	368	0.0082	-156	c.263 others(19): Show c.263-21859_263-21704del	STK32C	ENSG00000165752.17	transcript	ENST00000298630.8	protein_coding	1/11			chr10	TogoVar
SYTL3_chr6_158645054_158769871	158705116	GACAGGGT others(149): Show GACAGGGTGACAGTGAGGGCTGTAAGGCCACATAGGGCAGGAGGGACCCA GGGCAGGGTGACAGTGAGGGCTGTAAGGCCACATAGGGCAGGAGGGACCT GGGGACAGGGTGACAGTGAGGGCTGTAAGGCCACATAGGGCAGGAGGGAC CTGGGGA	G G	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0268 a0006c0008t0001g0268	1	292	0.0034	-156	c.395 others(17): Show c.395-2113_395-1958del	SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	6/17			chr6	TogoVar
TAF13_chr1_109059140_109081003	109071965	TATATATA others(149): Show TATATATATATACACACATATATATATATATATATATATATATATATATA CACACACATATATATATATATATATATATACACACACATATATATATATA TATATATATATACACACACATATATATATATATATATATATATATATATA TACACAC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00741.hp1 HG01109.hp1 others(24): Show HG00639.hp2 HG00741.hp1 HG01109.hp1 HG01517.hp1 HG02015.hp2 HG02056.hp2 HG02293.hp1 HG02300.hp1 HG02622.hp2 HG02683.hp2 HG02717.hp2 HG02723.hp1 HG02818.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG03579.hp2 HG03688.hp2 HG03834.hp1 HG03942.hp1 HG04204.hp1 HG04228.hp2 NA18956.hp1 NA18971.hp2 NA19084.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0012	a0001c0001t0001g0003 a0001c0001t0001g0037 a0001c0001t0001g0042 others(13): Show a0001c0001t0001g0003 a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0001g0232 a0001c0001t0001g0254 a0001c0001t0002g0161 a0001c0001t0002g0227 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0004g0014 a0001c0001t0004g0038 a0001c0001t0004g0201 a0001c0001t0008g0186 a0001c0001t0008g0189 a0001c0001t0008g0190 a0001c0001t0012g0198	27	414	0.0652	-156	c.106 others(17): Show c.106+2866_106+3021del	TAF13	ENSG00000197780.11	transcript	ENST00000338366.6	protein_coding	2/3			chr1	TogoVar
TBCD_chr17_82747065_82950914	82904144	TTGGTCTC others(149): Show TTGGTCTCTAGGTGGCTTCCATCTGCCACACGACACTCCCTGGTCTCTGG TTGGCATGCACCTGCCACACGACACTCCTTGGTCTCTAGGTGGCTTGCAC CTGCCACATGACACTCCTTGGTCTCTAGGTGGCTTCCATCTGCCACACGA CACTCCC	T T	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG03491.hp2 HG02735.hp1 HG03491.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0013 a0003c0004t0013	a0003c0004t0013g0184 a0003c0004t0013g0193 a0003c0004t0013g0184 a0003c0004t0013g0193	2	318	0.0063	-156	c.180 others(17): Show c.1804+684_1804+839del	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	19/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TCERG1L_chr10_131087391_131316721	131228696	CCTCCGGA others(149): Show CCTCCGGAGTCTCCCCTCCAGACAGGCATTTCCTCAAGGCCTCCGGAGTC TTCCCTCCAGACAGGCATTTCCTCAAGGTCTCCGGAGTCTCCCCTCCAGA CAGGCATTTCCTCAAGGCCTCCGGAGTCTTCCCTCCAGACAGGCATTTCC TCAAGGT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02040.hp2 HG02074.hp1 HG00438.hp1 HG02040.hp2 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0272 a0001c0001t0002g0274 a0001c0001t0009g0280 a0001c0001t0002g0272 a0001c0001t0002g0274 a0001c0001t0009g0280	3	324	0.0093	-156	c.856 others(19): Show c.856+31407_856+31562del	TCERG1L	ENSG00000176769.9	transcript	ENST00000368642.4	protein_coding	4/11			chr10	TogoVar
THEG_chr19_356747_381026	376815	CCCCCTCC others(149): Show CCCCCTCCGTGCCCCACCCAGCCTCTCCCCCCCCGTGCCTCCACCCAGCC TCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCA GCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCGTGTGCCCCACCC AGCCTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0020 a0009c0011t0020	a0009c0011t0020g0115 a0009c0011t0020g0115	1	370	0.0027	-156	c.-10 others(10): Show c.-1001_-846del	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		790		chr19	TogoVar
TMEM184B_chr22_38214291_38278010	38217144	TGGTGAAA others(149): Show TGGTGAAACCCCGTCTCTACTAAAAATACAAAAAACAACAACAACAAAAA AAAAACATGGCCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTG GGAGGCTGAGGCAGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGG CTAACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00323.hp2 others(93): Show HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01099.hp1 HG01167.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01952.hp1 HG01993.hp1 HG02004.hp1 HG02015.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp2 HG02135.hp1 HG02257.hp1 HG02293.hp2 HG02300.hp1 HG02602.hp2 HG02622.hp2 HG02647.hp2 HG02717.hp2 HG02895.hp1 HG02922.hp1 HG02965.hp2 HG02976.hp2 HG03195.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG06807.hp1 NA18906.hp1 NA18939.hp2 NA18941.hp1 NA18947.hp2 NA18948.hp1 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18955.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18977.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18985.hp1 NA18985.hp2 NA18987.hp1 NA18990.hp2 NA18993.hp1 NA18998.hp1 NA19003.hp1 NA19012.hp2 NA19056.hp2 NA19057.hp2 NA19066.hp1 NA19074.hp1 NA19083.hp1 NA20752.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0002c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0019 a0001c0001t0022 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0002t0003 a0001c0003t0018 a0001c0005t0005 a0002c0010t0002	a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0094 others(91): Show a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0094 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0162 a0001c0001t0001g0168 a0001c0001t0001g0174 a0001c0001t0001g0229 a0001c0001t0001g0235 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0252 a0001c0001t0001g0281 a0001c0001t0001g0318 a0001c0001t0002g0011 a0001c0001t0002g0018 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0043 a0001c0001t0002g0046 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0062 a0001c0001t0002g0064 a0001c0001t0002g0098 a0001c0001t0002g0123 a0001c0001t0002g0129 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0161 a0001c0001t0002g0164 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0186 a0001c0001t0002g0194 a0001c0001t0002g0197 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0208 a0001c0001t0002g0211 a0001c0001t0002g0221 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0290 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0299 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0308 a0001c0001t0004g0054 a0001c0001t0004g0289 a0001c0001t0004g0298 a0001c0001t0004g0303 a0001c0001t0004g0304 a0001c0001t0005g0111 a0001c0001t0005g0112 a0001c0001t0005g0116 a0001c0001t0005g0177 a0001c0001t0005g0228 a0001c0001t0008g0329 a0001c0001t0011g0277 a0001c0001t0011g0279 a0001c0001t0014g0189 a0001c0001t0015g0321 a0001c0001t0015g0322 a0001c0001t0019g0092 a0001c0001t0022g0093 a0001c0001t0034g0084 a0001c0001t0035g0101 a0001c0001t0036g0212 a0001c0002t0003g0286 a0001c0003t0018g0069 a0001c0005t0005g0178 a0002c0010t0002g0200	96	354	0.2712	-156	c.41 others(11): Show c.4169_*4324del	TMEM184B	ENSG00000198792.13	transcript	ENST00000361906.8	protein_coding		2146		chr22	TogoVar
TMEM184B_chr22_38214291_38278010	38217260	GGATCACG others(149): Show GGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACC CCGTCTCTACTAAAAATACAAAAAACAACAACAACAAAAAAAAAACATGG CCCGGGTGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAG GCAGGCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG00673.hp1 others(73): Show HG00639.hp1 HG00639.hp2 HG00673.hp1 HG01243.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03927.hp1 HG03942.hp2 NA18612.hp2 NA18943.hp1 NA18946.hp1 NA18955.hp2 NA18972.hp1 NA18975.hp2 NA18993.hp2 NA18995.hp2 NA18997.hp1 NA19007.hp2 NA19009.hp2 NA19043.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp2 NA19066.hp2 NA19081.hp1 NA19083.hp2 NA19088.hp2 NA19240.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0029 a0001c0001t0030 a0001c0001t0033 a0001c0001t0039 a0001c0002t0003 a0001c0004t0010 a0001c0004t0017 a0001c0004t0028 a0001c0004t0037 a0001c0005t0004 a0001c0007t0001	a0001c0001t0001g0003 a0001c0001t0001g0031 a0001c0001t0001g0036 others(67): Show a0001c0001t0001g0003 a0001c0001t0001g0031 a0001c0001t0001g0036 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0082 a0001c0001t0001g0100 a0001c0001t0001g0114 a0001c0001t0001g0124 a0001c0001t0001g0138 a0001c0001t0001g0165 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0188 a0001c0001t0001g0226 a0001c0001t0001g0251 a0001c0001t0001g0278 a0001c0001t0001g0306 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0002g0158 a0001c0001t0003g0006 a0001c0001t0003g0013 a0001c0001t0003g0028 a0001c0001t0003g0080 a0001c0001t0003g0086 a0001c0001t0003g0097 a0001c0001t0003g0109 a0001c0001t0003g0173 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0006g0004 a0001c0001t0006g0119 a0001c0001t0006g0120 a0001c0001t0006g0121 a0001c0001t0006g0146 a0001c0001t0006g0266 a0001c0001t0006g0272 a0001c0001t0011g0195 a0001c0001t0012g0307 a0001c0001t0014g0102 a0001c0001t0016g0020 a0001c0001t0029g0087 a0001c0001t0030g0083 a0001c0001t0033g0081 a0001c0001t0039g0323 a0001c0002t0003g0005 a0001c0002t0003g0017 a0001c0002t0003g0071 a0001c0002t0003g0096 a0001c0002t0003g0227 a0001c0002t0003g0284 a0001c0002t0003g0285 a0001c0002t0003g0287 a0001c0002t0003g0316 a0001c0004t0010g0007 a0001c0004t0010g0104 a0001c0004t0010g0179 a0001c0004t0017g0021 a0001c0004t0028g0283 a0001c0004t0037g0103 a0001c0005t0004g0141 a0001c0005t0004g0142 a0001c0007t0001g0319 a0001c0007t0001g0320	76	354	0.2147	-156	c.40 others(11): Show c.4053_*4208del	TMEM184B	ENSG00000198792.13	transcript	ENST00000361906.8	protein_coding		2030		chr22	TogoVar
TNC_chr9_115014575_115123157	115095452	ATATATGT others(149): Show ATATATGTATATATATATGTATATATATGTATATATATATGTATATATAT GTATATATATATGTATATATATGTATATATATATGTATATATATGTATAT ATATGTATATATATGTATATATATGTATATATATGTATATATATGTATAT ATATATG	A A	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01243.hp1 HG02055.hp1 others(2): Show HG01192.hp1 HG01243.hp1 HG02055.hp1 HG02257.hp1 HG02965.hp2	a0005 a0022 a0049 a0005 a0022 a0049	a0005c0062 a0022c0025 a0049c0064 a0005c0062 a0022c0025 a0049c0064	a0005c0062t0026 a0022c0025t0001 a0049c0064t0014 a0005c0062t0026 a0022c0025t0001 a0049c0064t0014	a0005c0062t0026g0250 a0022c0025t0001g0347 a0022c0025t0001g0348 others(2): Show a0005c0062t0026g0250 a0022c0025t0001g0347 a0022c0025t0001g0348 a0022c0025t0001g0349 a0049c0064t0014g0343	5	366	0.0137	-156	c.-13 others(19): Show c.-136-4454_-136-4299del	TNC	ENSG00000041982.17	transcript	ENST00000350763.9	protein_coding	1/27			chr9	TogoVar
TNC_chr9_115014575_115123157	115095548	ATATATAT others(149): Show ATATATATGTATATATATGTATATATATGTATATATATGTATATATATGT ATATATATATGTATATATGTATATATATATGTATATATATGTATATATAT ATGTATATATATGTATATATATATGTATATATATGTATATATATATGTAT ATATATG	A A	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0191 a0002c0001t0002g0191	1	366	0.0027	-156	c.-13 others(19): Show c.-136-4550_-136-4395del	TNC	ENSG00000041982.17	transcript	ENST00000350763.9	protein_coding	1/27			chr9	TogoVar
TRAPPC9_chr8_139722725_140462744	139755553	GGTCGCAG others(149): Show GGTCGCAGGAGGAGCCAGGGATGGGGTATAAGGACAGCAGGTCGCAGGAG GAGCCAGGGTTGGGGTATAAGGACAGCAGGTCGCAGGAGGAGCCAGGGTT GGGGTATAAGGACAGCAGGTCGCAGGAGGAGCTAGGGTTTGGGGATGATG ACAGCAT	G G	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0082 a0001c0001t0025g0082	1	98	0.0102	-156	c.305 others(21): Show c.3056-23507_3056-23352del	TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding	21/22			chr8	TogoVar
TRAPPC9_chr8_139722725_140462744	139756450	GGTCGCAG others(149): Show GGTCGCAGAAGGAGCCAGGGTTTGGGGATGAGGACAGCAGGTCACAGGAG GAGCCAGGGTTTGGGGATGAGGACAGCAGGTCGCAGGAGGAGCCAGGGTT TGGGGATGAGGACAGCAGGTCGCAGGAGGAGCCCGGGATGGGGTATAAGG ACAGCGT	G G	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0082 a0001c0001t0025g0082	1	98	0.0102	-156	c.305 others(21): Show c.3056-24404_3056-24249del	TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding	21/22			chr8	TogoVar