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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cds cds pos length	aa aa pos length	distance	status	chr	external
BAIAP3_chr16_1328645_1354439	1346751	CGGAGGCC others(94): Show CGGAGGCCCTGTGGGAGCTACTCCTCCAGGCCATTCTGCAGGTGGGGCCA GCGGGGCAGGTGGGGCTGGCCCGTGGTCACTGATGCTGCCCTGCAGGGTG CT	C C	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG01123.hp1 HG01123.hp1	a0010 a0010	a0010c0035 a0010c0035	a0010c0035t0008 a0010c0035t0008	a0010c0035t0008g0082 a0010c0035t0008g0082	1	352	0.0028	-101	c.264 others(12): Show c.2643-54_2689del	p.Arg others(5): Show p.Arg881fs	BAIAP3	ENSG00000007516.15	transcript	ENST00000426824.8	protein_coding	28/34	2643/3459	881/1152		INFO_REALIGN_3_PRIME	chr16	TogoVar
BRF1_chr14_105204286_105306001	105236719	CCACAACC others(94): Show CCACAACCTAGCATCTCAGGAGAAAAAGGCCACACCACTGTCCGCGTAGT CGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCTGTGGCACCCTCAGG AG	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0059	1	70	0.0143	-101	c.694 others(17): Show c.694+4445_694+4545del		BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17					chr14	TogoVar
BRF1_chr14_105204286_105306001	105237701	GGGGGACA others(94): Show GGGGGACAGCCTGGCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCA TCTCAGGAGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGG GC	G G	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	70	0.0143	-101	c.694 others(17): Show c.694+3463_694+3563del		BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17					chr14	TogoVar
C3_chr19_6672704_6725650	6710158	GGGAGAGA others(94): Show GGGAGAGAGAGGGAAAGAGAGAGGGAGAGAGAGAGGGAAAGAGAGAAGGA GAGAAAGAGGGAGAGAGAAGGAGAGAGAGGGAGAGAGAGAAAGGGAGAGA GA	G G	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0212 a0001c0003t0001g0212	1	368	0.0027	-101	c.168 others(17): Show c.1686+380_1687-317del		C3	ENSG00000125730.18	transcript	ENST00000245907.11	protein_coding	13/40					chr19	TogoVar
CACNG3_chr16_24251335_24367412	24317552	GAAAAAGA others(94): Show GAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGACAGACAGAAAGAAAGAAAAGAAAA GA	G G	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0270	1	360	0.0028	-101	c.212 others(19): Show c.212-29179_212-29079del		CACNG3	ENSG00000006116.4	transcript	ENST00000005284.4	protein_coding	1/3				INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNG8_chr19_53957937_53995215	53962358	GAGCGGTG others(94): Show GAGCGGTGGTGGGGACTCCTCCGAGTGGGGTTAGTGGGATGGTGGGACGA CTTTCTTGGGCAGAAGACAGGAGTGGAGAGAGATTTCATCTTATTTATTA AT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG03041.hp1 HG02486.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0089 a0001c0001t0068 a0001c0001t0089	a0001c0001t0068g0080 a0001c0001t0089g0071 a0001c0001t0068g0080 a0001c0001t0089g0071	2	251	0.0080	-101	c.-78 others(9): Show c.-784_-684del		CACNG8	ENSG00000142408.7	transcript	ENST00000270458.4	protein_coding				578		chr19	TogoVar
CAMK1D_chr10_12344547_12840545	12401136	ATTATATA others(94): Show ATTATATATATATTTTATATATATATAATATATGTATTATATATATTATA TATATATTTTATATATATATAATATATGTATTATATATATTATATATATA TT	A A	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0120 a0001c0001t0013g0120	1	212	0.0047	-101	c.92+ others(17): Show c.92+51239_92+51339del		CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	1/10				INFO_REALIGN_3_PRIME	chr10	TogoVar
CANT1_chr17_78986716_79014764	79004325	AGGGAGGT others(94): Show AGGGAGGTTAGGGAGGGGAGTTAGGGAGAGGGGGGTTAGGGAGAGGGGGG TTAGGGAGAAGGGAGTTAGGGAGGGGAGTTAGGGAGAGGGGAGTTAGGGA GG	A A	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18960.hp1 NA18967.hp2 others(3): Show NA18946.hp1 NA18960.hp1 NA18967.hp2 NA18977.hp1 NA18990.hp2 NA19085.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0006 a0001c0002t0002 a0001c0002t0006	a0001c0002t0002g0014 a0001c0002t0002g0095 a0001c0002t0006g0189 a0001c0002t0002g0014 a0001c0002t0002g0095 a0001c0002t0006g0189	6	388	0.0155	-101	c.-14 others(19): Show c.-147+5238_-147+5338del		CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4					chr17	TogoVar
CANT1_chr17_78986716_79014764	79004449	AGGAGAGG others(94): Show AGGAGAGGGGAGTTAGGGAGGGGAGTTAGGGAGAGGGGAGTTAGGGAGGG GGGAGTTAGGGAGAGGGGGGTTAGGGAGAAGGGAGTTAGGGAGGGGAGTT AG	A A	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0025 a0001c0003t0002g0025	1	341	0.0029	-101	c.-14 others(19): Show c.-147+5114_-147+5214del		CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4					chr17	TogoVar
CARTPT_chr5_71714275_71726045	71725212	TTCTCATT others(94): Show TTCTCATTTTGGGATGCATATATATATATATATATTTCTTTTTTTTTTGT TTTTTTTTTGTTTTTTTTTTGAGACGGAGTCTCATTCTGTTGTCCAGGCT GG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	472	0.0021	-101	c.45 others(11): Show c.4598_*4698del		CARTPT	ENSG00000164326.5	transcript	ENST00000296777.5	protein_coding				4168		chr5	TogoVar
CDH7_chr18_65746012_65895337	65782022	CTTTCTCC others(94): Show CTTTCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCT TTCTTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTT CT	C C	intron_variant intron_variant	MODIFIER	HG03209.hp1 NA18965.hp1 HG03209.hp1 NA18965.hp1	a0001 a0002 a0001 a0002	a0001c0007 a0002c0003 a0001c0007 a0002c0003	a0001c0007t0011 a0002c0003t0039 a0001c0007t0011 a0002c0003t0039	a0001c0007t0011g0016 a0002c0003t0039g0037 a0001c0007t0011g0016 a0002c0003t0039g0037	2	197	0.0102	-101	c.210 others(19): Show c.210+18973_210+19073del		CDH7	ENSG00000081138.14	transcript	ENST00000397968.4	protein_coding	2/11				INFO_REALIGN_3_PRIME	chr18	TogoVar
CELF1_chr11_47460937_47558132	47541693	AGAAAGAA others(94): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAACGAAAGAAAGAACG AAAGAAAGAAAGAACGAAAGAAAGAACGAAAGAAAGAACGAAAGAAAGAA CG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00621.hp1 HG02071.hp1 others(13): Show HG00544.hp2 HG00621.hp1 HG02071.hp1 HG02738.hp1 HG03098.hp2 HG03704.hp2 HG03834.hp1 HG04115.hp2 HG04204.hp1 NA18949.hp1 NA18956.hp1 NA18982.hp1 NA18989.hp1 NA19005.hp1 NA19089.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0025 a0001c0003t0011 a0001c0001t0002 a0001c0001t0025 a0001c0003t0011	a0001c0001t0002g0273 a0001c0001t0002g0276 a0001c0001t0002g0278 others(13): Show a0001c0001t0002g0273 a0001c0001t0002g0276 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0283 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0292 a0001c0001t0025g0284 a0001c0003t0011g0309	16	336	0.0476	-101	c.-15 others(21): Show c.-154+11198_-154+11298del		CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding	1/14					chr11	TogoVar
CFAP54_chr12_96484577_96880555	96826767	ATTATATA others(94): Show ATTATATAATATATAATTATAAATAATATATAATTATATATTATACATAT TAATATATTATATAATATATCATATAATATTATATAATATATTATATAAT AT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03209.hp2 HG03486.hp1 HG02976.hp2 HG03209.hp2 HG03486.hp1	a0023 a0049 a0023 a0049	a0023c0026 a0049c0039 a0023c0026 a0049c0039	a0023c0026t0001 a0049c0039t0001 a0023c0026t0001 a0049c0039t0001	a0023c0026t0001g0078 a0023c0026t0001g0090 a0049c0039t0001g0093 a0023c0026t0001g0078 a0023c0026t0001g0090 a0049c0039t0001g0093	3	266	0.0113	-101	c.909 others(19): Show c.9097-2245_9097-2145del		CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	65/67				INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP61_chr20_20047532_20365698	20355376	AGTGACAC others(94): Show AGTGACACTGTGAGCAGAGATGGTCACACTGTGAGGGGAGGTGGTCACAC TGAGGGGAGGTGGTCACACTGTGAGGGGAGGTGGTCACACTGAGGGGAGG TG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp2 HG00735.hp2 others(18): Show HG00408.hp1 HG00558.hp2 HG00735.hp2 HG01192.hp2 HG01346.hp1 HG01975.hp2 HG01978.hp2 HG02056.hp2 HG02280.hp1 HG02300.hp1 HG02602.hp1 HG02683.hp2 HG02735.hp1 HG03942.hp1 HG04228.hp1 NA18943.hp1 NA18947.hp2 NA18964.hp2 NA19007.hp2 NA19070.hp2 NA19090.hp2	a0001 a0002 a0024 a0001 a0002 a0024	a0001c0001 a0001c0003 a0001c0006 others(4): Show a0001c0001 a0001c0003 a0001c0006 a0001c0027 a0002c0002 a0002c0004 a0024c0044	a0001c0001t0001 a0001c0003t0001 a0001c0006t0001 others(4): Show a0001c0001t0001 a0001c0003t0001 a0001c0006t0001 a0001c0027t0001 a0002c0002t0001 a0002c0004t0001 a0024c0044t0001	a0001c0001t0001g0082 a0001c0001t0001g0154 a0001c0001t0001g0157 others(18): Show a0001c0001t0001g0082 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0183 a0001c0001t0001g0203 a0001c0001t0001g0223 a0001c0003t0001g0097 a0001c0006t0001g0167 a0001c0027t0001g0170 a0002c0002t0001g0030 a0002c0002t0001g0038 a0002c0002t0001g0041 a0002c0002t0001g0072 a0002c0002t0001g0149 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0226 a0002c0002t0001g0234 a0002c0004t0001g0065 a0024c0044t0001g0058	21	234	0.0897	-101	c.351 others(19): Show c.3514-4831_3514-4731del		CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26				INFO_REALIGN_3_PRIME	chr20	TogoVar
CHRDL2_chr11_74691429_74736426	74721141	TGGCAGAG others(94): Show TGGCAGAGAGGGTGGGACACGGGCCCAGCTGGGGTGCTGGTCAGAGCCAG CCCAACTCTCCAAGGAGTGAATAATGTCTTTCTTCCTCAGTCCCCTCCTC CC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01256.hp1 HG01258.hp1 others(4): Show HG00323.hp2 HG01256.hp1 HG01258.hp1 HG03669.hp1 HG03831.hp2 HG04184.hp1 HG04228.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0001 a0001c0006t0001 a0001c0002t0001 a0001c0006t0001	a0001c0002t0001g0191 a0001c0006t0001g0023 a0001c0006t0001g0187 others(3): Show a0001c0002t0001g0191 a0001c0006t0001g0023 a0001c0006t0001g0187 a0001c0006t0001g0190 a0001c0006t0001g0192 a0001c0006t0001g0193	7	390	0.0179	-101	c.83- others(15): Show c.83-2410_83-2310del		CHRDL2	ENSG00000054938.17	transcript	ENST00000376332.8	protein_coding	1/10					chr11	TogoVar
CNNM4_chr2_96755902_96816874	96806043	ACCTCCCG others(94): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCAAC CTCCCTCCCGGAGGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC GC	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp1 HG02622.hp1 others(7): Show HG01884.hp1 HG02109.hp1 HG02622.hp1 HG02809.hp2 HG02965.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03486.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0079 a0001c0001t0004g0080 a0001c0001t0004g0122 others(7): Show a0001c0001t0004g0079 a0001c0001t0004g0080 a0001c0001t0004g0122 a0001c0001t0004g0123 a0001c0001t0004g0128 a0001c0001t0004g0129 a0001c0001t0004g0130 a0001c0001t0004g0131 a0001c0001t0004g0132 a0001c0001t0004g0136	10	268	0.0373	-101	c.194 others(19): Show c.1949-2490_1949-2390del		CNNM4	ENSG00000158158.12	transcript	ENST00000377075.3	protein_coding	5/6				INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP2_chr7_146111801_148425998	147084274	AATACATA others(94): Show AATACATATATGCATAATGCTATATATGTATATATAATCCATATATGCAT AATGCTATATATGTATATATAATATATGCATAATGCTATATATGTATATA TA	A A	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0023 a0001c0003t0023	a0001c0003t0023g0030 a0001c0003t0023g0030	1	39	0.0256	-101	c.551 others(19): Show c.551-23869_551-23769del		CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	4/23				INFO_REALIGN_3_PRIME	chr7	TogoVar
COBL_chr7_51011212_51321809	51288776	ATAATTTT others(94): Show ATAATTTTAGAAAATACAAATGGGAAATAAGAACTGAATTCAAATACTAG TCTTCAAGATGGATATCTATGGAAATACTCTTCTACCTACTCAACTAATT GT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp2 HG01934.hp2 others(18): Show HG01884.hp1 HG01884.hp2 HG01934.hp2 HG02004.hp2 HG02015.hp2 HG02056.hp1 HG02145.hp2 HG02451.hp1 HG02559.hp2 HG02723.hp2 HG02809.hp1 HG02922.hp2 HG03139.hp1 HG03471.hp2 HG03710.hp2 NA18522.hp2 NA18612.hp2 NA18988.hp2 NA18994.hp2 NA19043.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0007 a0001c0009 others(9): Show a0001c0003 a0001c0007 a0001c0009 a0001c0018 a0001c0020 a0001c0029 a0001c0030 a0001c0037 a0001c0066 a0002c0004 a0002c0015 a0002c0035	a0001c0003t0001 a0001c0007t0001 a0001c0009t0001 others(10): Show a0001c0003t0001 a0001c0007t0001 a0001c0009t0001 a0001c0018t0003 a0001c0020t0001 a0001c0029t0003 a0001c0030t0005 a0001c0037t0001 a0001c0066t0003 a0002c0004t0001 a0002c0004t0006 a0002c0015t0001 a0002c0035t0002	a0001c0003t0001g0002 a0001c0003t0001g0003 a0001c0003t0001g0005 others(18): Show a0001c0003t0001g0002 a0001c0003t0001g0003 a0001c0003t0001g0005 a0001c0007t0001g0171 a0001c0007t0001g0174 a0001c0007t0001g0175 a0001c0007t0001g0176 a0001c0007t0001g0177 a0001c0007t0001g0178 a0001c0009t0001g0006 a0001c0018t0003g0170 a0001c0020t0001g0167 a0001c0029t0003g0054 a0001c0029t0003g0169 a0001c0030t0005g0053 a0001c0037t0001g0173 a0001c0066t0003g0052 a0002c0004t0001g0182 a0002c0004t0006g0004 a0002c0015t0001g0168 a0002c0035t0002g0172	21	228	0.0921	-101	c.41+ others(17): Show c.41+27716_41+27816del		COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	1/12					chr7	TogoVar
COL26A1_chr7_101357875_101564024	101489655	TTCTTTCT others(94): Show TTCTTTCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTGTCTTT CTTTCTTTCATTCTTTCTTTCTCTCTCTCTTTCTCTCTTTCTTTCTTGTC TC	T T	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19080.hp2 NA19060.hp2 NA19080.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0002 a0002c0006t0004 a0001c0001t0002 a0002c0006t0004	a0001c0001t0002g0138 a0002c0006t0004g0010 a0001c0001t0002g0138 a0002c0006t0004g0010	2	160	0.0125	-101	c.385 others(19): Show c.385+41877_385+41977del		COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12				INFO_REALIGN_3_PRIME	chr7	TogoVar
CPN2_chr3_194334768_194356328	194348110	GCCCAGTT others(94): Show GCCCAGTTCATCCCACCCCATCCGCTGCCCAGTTCAGCCCACCCCATCCT CTGCCCAGTTCAGCCCACACCACCCGCTGCCCAGTTCAGCCCACCACCCC CA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02723.hp1 HG03225.hp2 HG02647.hp1 HG02723.hp1 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0003 a0001c0004t0004 a0001c0002t0003 a0001c0004t0004	a0001c0002t0003g0073 a0001c0004t0004g0040 a0001c0002t0003g0073 a0001c0004t0004g0040	3	438	0.0068	-101	c.-4+ others(15): Show c.-4+3031_-4+3131del		CPN2	ENSG00000178772.7	transcript	ENST00000323830.4	protein_coding	1/1					chr3	TogoVar
CPNE7_chr16_89570758_89602246	89571044	CGGGGCAC others(94): Show CGGGGCACGGGAGGAGGTGAGCGGGGCACGGGAGGAGGTGAGCGGGGACG GGAGGAGGTGAGCGGGGACGGGAGGAGGTGAGCGGGCACGGGAGGAGGTG AG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00621.hp1 HG00673.hp1 others(40): Show HG00323.hp2 HG00621.hp1 HG00673.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01943.hp2 HG02145.hp1 HG02300.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp2 HG02735.hp1 HG02809.hp2 HG02970.hp1 HG03486.hp2 HG03540.hp1 HG03579.hp1 HG03688.hp1 HG03704.hp1 HG03834.hp1 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG06807.hp2 NA18941.hp2 NA18942.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18964.hp1 NA18977.hp1 NA18977.hp2 NA18980.hp2 NA18983.hp2 NA19000.hp1 NA19004.hp1 NA19055.hp1 NA19067.hp2 NA19070.hp1 NA19082.hp1 NA19085.hp1 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0007	a0001c0001 a0001c0002 a0001c0005 others(5): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0002c0004 a0003c0006 a0004c0020 a0007c0026	a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 others(11): Show a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0009 a0001c0005t0002 a0001c0007t0006 a0002c0004t0002 a0003c0006t0003 a0004c0020t0001 a0007c0026t0001	a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0040 others(40): Show a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0040 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0008g0050 a0001c0002t0001g0029 a0001c0002t0001g0033 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0002g0036 a0001c0002t0002g0041 a0001c0002t0002g0045 a0001c0002t0002g0319 a0001c0002t0003g0022 a0001c0002t0003g0035 a0001c0002t0003g0037 a0001c0002t0003g0038 a0001c0002t0003g0044 a0001c0002t0003g0046 a0001c0002t0003g0047 a0001c0002t0003g0049 a0001c0002t0003g0054 a0001c0002t0004g0055 a0001c0002t0004g0057 a0001c0002t0005g0023 a0001c0002t0005g0024 a0001c0002t0009g0318 a0001c0005t0002g0042 a0001c0005t0002g0043 a0001c0007t0006g0252 a0002c0004t0002g0296 a0003c0006t0003g0334 a0004c0020t0001g0332 a0007c0026t0001g0021	43	345	0.1246	-101	c.-48 others(11): Show c.-4853_-4753del		CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding				4713		chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587707	ACCCCCAT others(94): Show ACCCCCATAGCACCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCAC CCGCGTGTCACCCACAGAAACACGGCCCCCGTGTCACCCACAGATACACG GC	A A	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	343	0.0029	-101	c.927 others(15): Show c.927+611_927+711del		CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14				INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587713	ATAGCACC others(94): Show ATAGCACCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGT GTCACCCACAGAAACACGGCCCCCGTGTCACCCACAGATACACGGCCCCC CG	A A	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	339	0.0029	-101	c.927 others(15): Show c.927+613_927+713del		CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14				INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587716	GCACCCCC others(94): Show GCACCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTC ACCCACAGAAACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCCGT GT	G G	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0002 a0001c0012t0002	a0001c0012t0002g0288 a0001c0012t0002g0288	1	259	0.0039	-101	c.927 others(15): Show c.927+620_927+720del		CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14				INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587872	CCCCCCGT others(94): Show CCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCAC CCGCGTGTCACCCACAGATACACGGCCCCCCGTGTTACCCACAGATACAC GG	C C	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0139 a0001c0002t0004g0139	1	340	0.0029	-101	c.927 others(15): Show c.927+785_928-688del		CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14				INFO_REALIGN_3_PRIME	chr16	TogoVar
CPSF2_chr14_92116969_92177145	92173328	TATACGTA others(94): Show TATACGTATATATATATGTATATATATATACGTATATATATATGTATATA TATACGTATATATATATATACACATATGTATATATATATATGTGTATATA TA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 HG02738.hp1 HG03492.hp2 others(5): Show HG02602.hp2 HG02738.hp1 HG03492.hp2 NA18950.hp2 NA19007.hp1 NA19055.hp2 NA19060.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0034 a0001c0001t0036 others(4): Show a0001c0001t0033 a0001c0001t0034 a0001c0001t0036 a0001c0001t0056 a0001c0001t0060 a0001c0001t0061 a0001c0001t0064	a0001c0001t0033g0034 a0001c0001t0034g0101 a0001c0001t0036g0016 others(5): Show a0001c0001t0033g0034 a0001c0001t0034g0101 a0001c0001t0036g0016 a0001c0001t0036g0033 a0001c0001t0056g0123 a0001c0001t0060g0111 a0001c0001t0061g0004 a0001c0001t0064g0119	8	386	0.0207	-101	c.11 others(13): Show c.11585_*11685del		CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding				1184		chr14	TogoVar
CPSF2_chr14_92116969_92177145	92173330	TACGTATA others(94): Show TACGTATATATATATGTATATATATATACGTATATATATATGTATATATA TACGTATATATATATATACACATATGTATATATATATATGTGTATATATA TA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp1 NA18952.hp1 NA18980.hp1 others(1): Show HG02523.hp1 NA18952.hp1 NA18980.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0034 a0001c0001t0035 others(1): Show a0001c0001t0020 a0001c0001t0034 a0001c0001t0035 a0001c0001t0070	a0001c0001t0020g0011 a0001c0001t0034g0033 a0001c0001t0035g0016 others(1): Show a0001c0001t0020g0011 a0001c0001t0034g0033 a0001c0001t0035g0016 a0001c0001t0070g0034	4	264	0.0152	-101	c.11 others(13): Show c.11587_*11687del		CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding				1186		chr14	TogoVar
CPSF2_chr14_92116969_92177145	92173331	ACGTATAT others(94): Show ACGTATATATATATGTATATATATATACGTATATATATATGTATATATAT ACGTATATATATATATACACATATGTATATATATATATGTGTATATATAT AT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp1 NA19009.hp2 NA18948.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0035 a0001c0001t0033 a0001c0001t0035	a0001c0001t0033g0112 a0001c0001t0035g0016 a0001c0001t0033g0112 a0001c0001t0035g0016	2	357	0.0056	-101	c.11 others(13): Show c.11588_*11688del		CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding				1187		chr14	TogoVar
CREB3L2_chr7_137869979_138007086	137946765	TTTAGTTA others(94): Show TTTAGTTATCTATATAGTTATCTATATAGTTATATATAGTTATATATAGT TATCTATATAGTTATCTATATATAGTTATCTATATAGTTATCTATATAGT TA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(120): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00673.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01074.hp2 HG01099.hp1 HG01123.hp1 HG01255.hp1 HG01257.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01515.hp2 HG01884.hp1 HG01891.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG02027.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02109.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02293.hp1 HG02451.hp1 HG02523.hp1 HG02602.hp1 HG02602.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02818.hp2 HG02922.hp2 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03490.hp1 HG03579.hp2 HG03704.hp2 HG03831.hp2 HG04115.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18944.hp1 NA18944.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18956.hp1 NA18956.hp2 NA18967.hp1 NA18968.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18979.hp2 NA18983.hp1 NA18984.hp1 NA18989.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp2 NA19065.hp2 NA19066.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0005 others(3): Show a0001c0001 a0001c0004 a0001c0005 a0001c0009 a0001c0010 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(34): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0001t0038 a0001c0001t0040 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0049 a0001c0001t0051 a0001c0001t0053 a0001c0001t0057 a0001c0001t0058 a0001c0004t0019 a0001c0004t0021 a0001c0004t0031 a0001c0004t0033 a0001c0005t0001 a0001c0005t0002 a0001c0005t0009 a0001c0005t0014 a0001c0005t0050 a0001c0009t0011 a0001c0010t0003 a0002c0006t0015	a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0014 others(119): Show a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0041 a0001c0001t0001g0050 a0001c0001t0001g0098 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0161 a0001c0001t0001g0170 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0192 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0231 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0253 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0281 a0001c0001t0002g0006 a0001c0001t0002g0008 a0001c0001t0002g0044 a0001c0001t0002g0051 a0001c0001t0002g0091 a0001c0001t0002g0093 a0001c0001t0002g0101 a0001c0001t0002g0128 a0001c0001t0002g0158 a0001c0001t0002g0202 a0001c0001t0002g0221 a0001c0001t0002g0261 a0001c0001t0003g0052 a0001c0001t0003g0061 a0001c0001t0003g0066 a0001c0001t0003g0095 a0001c0001t0003g0151 a0001c0001t0003g0187 a0001c0001t0003g0194 a0001c0001t0003g0223 a0001c0001t0003g0238 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0264 a0001c0001t0003g0265 a0001c0001t0003g0266 a0001c0001t0003g0270 a0001c0001t0003g0271 a0001c0001t0004g0153 a0001c0001t0004g0167 a0001c0001t0004g0214 a0001c0001t0004g0251 a0001c0001t0005g0003 a0001c0001t0005g0017 a0001c0001t0005g0019 a0001c0001t0005g0036 a0001c0001t0005g0070 a0001c0001t0005g0225 a0001c0001t0006g0021 a0001c0001t0006g0207 a0001c0001t0006g0267 a0001c0001t0007g0099 a0001c0001t0008g0040 a0001c0001t0008g0056 a0001c0001t0009g0087 a0001c0001t0009g0089 a0001c0001t0011g0130 a0001c0001t0011g0137 a0001c0001t0012g0210 a0001c0001t0014g0174 a0001c0001t0026g0234 a0001c0001t0027g0256 a0001c0001t0029g0154 a0001c0001t0038g0148 a0001c0001t0040g0209 a0001c0001t0045g0198 a0001c0001t0046g0277 a0001c0001t0047g0236 a0001c0001t0049g0211 a0001c0001t0051g0114 a0001c0001t0053g0274 a0001c0001t0057g0138 a0001c0001t0058g0218 a0001c0004t0019g0027 a0001c0004t0019g0132 a0001c0004t0021g0047 a0001c0004t0031g0009 a0001c0004t0031g0055 a0001c0004t0033g0004 a0001c0005t0001g0096 a0001c0005t0001g0258 a0001c0005t0002g0102 a0001c0005t0009g0037 a0001c0005t0014g0200 a0001c0005t0050g0235 a0001c0009t0011g0222 a0001c0010t0003g0049 a0002c0006t0015g0016	123	269	0.4572	-101	c.103 others(19): Show c.103-18500_103-18400del		CREB3L2	ENSG00000182158.16	transcript	ENST00000330387.11	protein_coding	1/11					chr7	TogoVar
CREG1_chr1_167536013_167558762	167536064	AAAAAAAA others(94): Show AAAAAAAAAAAAAAAAAAAAAAAAGAGGAAGACAGAAAGAGATCTCTCTC TGCCATGTGAGGAAACAGCAAGAAGGCGGCCGTCTGCAAGCCAGGAAGAA AG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	416	0.0024	-101	c.61 others(11): Show c.6133_*6233del		CREG1	ENSG00000143162.9	transcript	ENST00000370509.5	protein_coding				4948		chr1	TogoVar
CSMD1_chr8_2930361_4999914	3182578	CTGTGTGT others(94): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTATTGTTAGTAGAGAAGGGGGACTCTGGCTGTCTATAAGAAGCTG TG	C C	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0034 a0034	a0034c0055 a0034c0055	a0034c0055t0034 a0034c0055t0034	a0034c0055t0034g0047 a0034c0055t0034g0047	1	20	0.0500	-101	c.562 others(19): Show c.5621-1465_5621-1365del		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	36/69					chr8	TogoVar
CTNNA3_chr10_65907523_67701195	67301966	AAGAAAGA others(94): Show AAGAAAGAAAAAAGAAAGAAAGAAAGAACGAAAGAACGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AG	A A	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02145.hp2 HG02280.hp1 others(16): Show HG01070.hp2 HG02145.hp2 HG02280.hp1 HG02622.hp2 HG02647.hp2 HG02717.hp2 HG02818.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG03130.hp2 HG03195.hp2 HG06807.hp1 NA18612.hp2 NA18960.hp2 NA18964.hp1 NA19080.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0003 a0001c0005 others(5): Show a0001c0001 a0001c0003 a0001c0005 a0001c0011 a0002c0002 a0003c0009 a0004c0010 a0005c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0020 a0001c0003t0011 a0001c0003t0014 a0001c0003t0018 a0001c0003t0022 a0001c0005t0010 a0001c0011t0009 a0002c0002t0003 a0002c0002t0017 a0002c0002t0026 a0003c0009t0003 a0004c0010t0002 a0005c0008t0005	a0001c0001t0001g0015 a0001c0001t0002g0024 a0001c0001t0003g0023 others(16): Show a0001c0001t0001g0015 a0001c0001t0002g0024 a0001c0001t0003g0023 a0001c0001t0004g0041 a0001c0001t0004g0043 a0001c0001t0009g0030 a0001c0001t0020g0032 a0001c0003t0011g0031 a0001c0003t0014g0025 a0001c0003t0018g0037 a0001c0003t0022g0022 a0001c0005t0010g0029 a0001c0011t0009g0017 a0002c0002t0003g0042 a0002c0002t0017g0040 a0002c0002t0026g0046 a0003c0009t0003g0036 a0004c0010t0002g0021 a0005c0008t0005g0033	19	41	0.4634	-101	c.580 others(19): Show c.580-82197_580-82097del		CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	5/17					chr10	TogoVar
CTNND2_chr5_10966836_11909446	11816690	AGGGGGGA others(94): Show AGGGGGGAGAGAGAGAGAGAGAGGAGGAGAGAGAGAGAGAGGGGGAGAGA GAGAGAGAGAGGAGGAGAGAGAGAGAGGGGGAGAGAGAGAGAGAGAGAGG AG	A A	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	22	0.0455	-101	c.38- others(17): Show c.38-84519_38-84419del		CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	1/21					chr5	TogoVar
DCC_chr18_52335197_53540899	53079237	TTGATCTC others(94): Show TTGATCTCATGAATTCCATGTCCAATTTTTGACACGTAGACCACCTGCTT TCTTGTTATACTTGAGCCTTACTTCTCATTATTTAATGTGAGGCTTTGAG CC	T T	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0008 a0008	a0008c0017 a0008c0017	a0008c0017t0004 a0008c0017t0004	a0008c0017t0004g0110 a0008c0017t0004g0110	1	114	0.0088	-101	c.126 others(21): Show c.1261+13072_1261+13172del		DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	7/28					chr18	TogoVar
DDX51_chr12_132131594_132149319	132135735	TCCTCCCA others(94): Show TCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGA GTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCC GC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0004 a0002c0002t0003g0004	1	317	0.0032	-101	c.34 others(11): Show c.3436_*3536del		DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding				858		chr12	TogoVar
DDX51_chr12_132131594_132149319	132135746	CCCGAGTG others(94): Show CCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGG TGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCAC CT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0006 a0003c0006t0006	a0003c0006t0006g0020 a0003c0006t0006g0020	1	329	0.0030	-101	c.34 others(11): Show c.3425_*3525del		DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding				847		chr12	TogoVar
DLGAP2_chr8_732628_1713476	965372	GCTGTACA others(94): Show GCTGTACACGGCACTGTTCATCACACACGCGGCTCCAGAGCCCGACCCCC GCATGCACACAGCGCTGTTCACCACACAGGGCTCCTGAGTCTGACCCCGC AC	G G	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0012 a0001c0009t0012	a0001c0009t0012g0006 a0001c0009t0012g0006	1	34	0.0294	-101	c.73+ others(17): Show c.73+57407_73+57507del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					chr8	TogoVar
DMD_chrX_31114222_33216549	32452393	GGGAAGGG others(94): Show GGGAAGGGAAAGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGA AAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGA AA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02451.hp2 HG02723.hp1 others(1): Show HG02257.hp1 HG02451.hp2 HG02723.hp1 HG02895.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0023 a0002c0058 others(1): Show a0001c0001 a0002c0023 a0002c0058 a0003c0008	a0001c0001t0006 a0002c0023t0009 a0002c0058t0003 others(1): Show a0001c0001t0006 a0002c0023t0009 a0002c0058t0003 a0003c0008t0003	a0001c0001t0006g0097 a0002c0023t0009g0011 a0002c0058t0003g0051 others(1): Show a0001c0001t0006g0097 a0002c0023t0009g0011 a0002c0058t0003g0051 a0003c0008t0003g0116	4	112	0.0357	-101	c.360 others(19): Show c.3603+2168_3603+2268del		DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	26/78					chrX	TogoVar
EFNA5_chr5_107371894_107675937	107557222	TGGTACGT others(94): Show TGGTACGTGGGAGGTGCTTAGCAAACATTTGTTAAATGAGAAGGGGCGAG AGAGGGAAGCCTGGAGGTCAGGTGGCAGGCATCCTAGCTTGAGTTTCAGC CA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp1 others(49): Show HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01106.hp2 HG01109.hp2 HG01169.hp2 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01361.hp1 HG01515.hp2 HG01978.hp2 HG02055.hp1 HG02293.hp1 HG02300.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02896.hp2 HG02922.hp1 HG02965.hp2 HG03041.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG03491.hp2 HG03704.hp1 HG03704.hp2 NA18522.hp2 NA18906.hp1 NA18950.hp2 NA18994.hp1 NA19007.hp2 NA19030.hp2 NA19043.hp2 NA19070.hp1 NA19081.hp1 NA19240.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(32): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0024 a0001c0001t0026 a0001c0001t0030 a0001c0001t0032 a0001c0001t0036 a0001c0001t0038 a0001c0001t0042 a0001c0001t0043 a0001c0001t0046 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0057 a0001c0001t0058 a0001c0001t0060 a0001c0001t0067 a0001c0001t0069 a0001c0001t0078 a0001c0001t0080 a0001c0001t0085	a0001c0001t0001g0029 a0001c0001t0001g0076 a0001c0001t0001g0141 others(49): Show a0001c0001t0001g0029 a0001c0001t0001g0076 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0150 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0002g0005 a0001c0001t0002g0074 a0001c0001t0002g0090 a0001c0001t0002g0104 a0001c0001t0002g0137 a0001c0001t0003g0070 a0001c0001t0003g0080 a0001c0001t0003g0130 a0001c0001t0003g0179 a0001c0001t0005g0122 a0001c0001t0005g0142 a0001c0001t0006g0093 a0001c0001t0007g0033 a0001c0001t0007g0089 a0001c0001t0007g0169 a0001c0001t0008g0121 a0001c0001t0008g0124 a0001c0001t0010g0038 a0001c0001t0012g0008 a0001c0001t0014g0156 a0001c0001t0015g0145 a0001c0001t0016g0115 a0001c0001t0018g0149 a0001c0001t0019g0160 a0001c0001t0021g0110 a0001c0001t0024g0067 a0001c0001t0026g0163 a0001c0001t0030g0002 a0001c0001t0032g0131 a0001c0001t0036g0027 a0001c0001t0038g0186 a0001c0001t0042g0082 a0001c0001t0043g0025 a0001c0001t0046g0011 a0001c0001t0049g0024 a0001c0001t0050g0108 a0001c0001t0051g0036 a0001c0001t0057g0088 a0001c0001t0058g0177 a0001c0001t0060g0034 a0001c0001t0067g0083 a0001c0001t0069g0085 a0001c0001t0078g0116 a0001c0001t0080g0039 a0001c0001t0085g0026	52	190	0.2737	-101	c.125 others(21): Show c.125+113166_125+113266del		EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4					chr5	TogoVar
EHHADH_chr3_185185624_185259049	185234489	CAGGAGTT others(94): Show CAGGAGTTCCCCTGTAGCTGATGGATCAGAGAGAGGCCCTAGGGCTAAGG TTAAGGGAAACAAGATCATAGAGAGGCCCTAGGGCTAAGGTTAAGGGAAA CA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(208): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00597.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp1 HG02165.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03942.hp2 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18522.hp1 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18945.hp2 NA18947.hp2 NA18949.hp1 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18957.hp1 NA18957.hp2 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18964.hp2 NA18970.hp2 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18989.hp1 NA18992.hp2 NA18993.hp2 NA18995.hp2 NA18998.hp2 NA19000.hp2 NA19001.hp1 NA19003.hp1 NA19009.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19062.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19077.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp2 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp1 NA21309.hp2	a0001 a0002 a0005 others(9): Show a0001 a0002 a0005 a0006 a0007 a0010 a0011 a0012 a0013 a0014 a0015 a0016	a0001c0001 a0002c0002 a0002c0004 others(11): Show a0001c0001 a0002c0002 a0002c0004 a0002c0021 a0005c0006 a0006c0007 a0007c0008 a0010c0012 a0011c0014 a0012c0017 a0013c0015 a0014c0019 a0015c0020 a0016c0016	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(17): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0011 a0002c0002t0002 a0002c0002t0007 a0002c0004t0003 a0002c0004t0005 a0002c0004t0006 a0002c0021t0003 a0005c0006t0001 a0006c0007t0003 a0007c0008t0001 a0010c0012t0001 a0011c0014t0001 a0012c0017t0001 a0013c0015t0009 a0014c0019t0012 a0015c0020t0003 a0016c0016t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0012 others(195): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0305 a0001c0001t0001g0324 a0001c0001t0003g0283 a0001c0001t0003g0284 a0001c0001t0003g0285 a0001c0001t0010g0143 a0001c0001t0011g0169 a0002c0002t0002g0002 a0002c0002t0002g0014 a0002c0002t0002g0018 a0002c0002t0002g0035 a0002c0002t0002g0261 a0002c0002t0002g0273 a0002c0002t0002g0274 a0002c0002t0002g0304 a0002c0002t0002g0306 a0002c0002t0002g0307 a0002c0002t0002g0308 a0002c0002t0002g0309 a0002c0002t0002g0310 a0002c0002t0002g0311 a0002c0002t0002g0312 a0002c0002t0002g0313 a0002c0002t0002g0314 a0002c0002t0002g0315 a0002c0002t0002g0316 a0002c0002t0002g0317 a0002c0002t0002g0318 a0002c0002t0002g0319 a0002c0002t0002g0320 a0002c0002t0002g0321 a0002c0002t0002g0322 a0002c0002t0002g0323 a0002c0002t0002g0325 a0002c0002t0002g0326 a0002c0002t0007g0183 a0002c0002t0007g0286 a0002c0004t0003g0149 a0002c0004t0003g0243 a0002c0004t0003g0271 a0002c0004t0003g0272 a0002c0004t0003g0279 a0002c0004t0003g0280 a0002c0004t0003g0281 a0002c0004t0003g0282 a0002c0004t0003g0288 a0002c0004t0003g0291 a0002c0004t0003g0296 a0002c0004t0003g0297 a0002c0004t0003g0298 a0002c0004t0003g0300 a0002c0004t0003g0301 a0002c0004t0003g0303 a0002c0004t0005g0138 a0002c0004t0005g0287 a0002c0004t0005g0289 a0002c0004t0005g0290 a0002c0004t0005g0302 a0002c0004t0006g0293 a0002c0004t0006g0299 a0002c0021t0003g0292 a0005c0006t0001g0011 a0005c0006t0001g0193 a0005c0006t0001g0212 a0005c0006t0001g0229 a0005c0006t0001g0294 a0005c0006t0001g0295 a0006c0007t0003g0275 a0006c0007t0003g0276 a0006c0007t0003g0277 a0006c0007t0003g0278 a0007c0008t0001g0211 a0007c0008t0001g0222 a0010c0012t0001g0251 a0010c0012t0001g0252 a0011c0014t0001g0184 a0012c0017t0001g0176 a0013c0015t0009g0017 a0014c0019t0012g0270 a0015c0020t0003g0146 a0016c0016t0001g0206	211	346	0.6098	-101	c.351 others(15): Show c.351+700_351+800del		EHHADH	ENSG00000113790.11	transcript	ENST00000231887.8	protein_coding	3/6					chr3	TogoVar
ENOSF1_chr18_665318_717630	666895	GGTGATGG others(94): Show GGTGATGGAGATGGTGATGGTGATGGAGATGGTGATGGTGATGGAGATGG TGATGGTGATGGAGATGGAGATGGTGATGGAGATGGAGATGGTGATGGTG AT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG02155.hp1 HG02451.hp2 others(1): Show HG01167.hp2 HG02155.hp1 HG02451.hp2 NA18975.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0002 a0003c0004t0003 a0001c0001t0002 a0003c0004t0003	a0001c0001t0002g0168 a0001c0001t0002g0229 a0003c0004t0003g0380 others(1): Show a0001c0001t0002g0168 a0001c0001t0002g0229 a0003c0004t0003g0380 a0003c0004t0003g0384	4	332	0.0120	-101	c.73 others(11): Show c.7309_*7409del		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding				3422		chr18	TogoVar
ENOSF1_chr18_665318_717630	667179	TGATGGTG others(94): Show TGATGGTGATGGAGATGGTGATGGTGATGGTGATGGAGATGGTGATGGTG ATGGAGATGGAGATGGTGATGGTGATGGTGATGGAGATGGTGATGGTGAT GG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0159 a0002c0005t0001g0159	1	371	0.0027	-101	c.70 others(11): Show c.7025_*7125del		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding				3138		chr18	TogoVar
EPHA8_chr1_22558489_22608595	22599635	AAGGGAGG others(94): Show AAGGGAGGGAGGGAAGGAAGGAAAGGAGGGAGGGAGGAAGGAGGGAAGGA AGGAAAGGAGGGAGGGAGGAAGGAGGGAAGGAAGGGAGGGAGGGAAGGAA GG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03098.hp1 HG02145.hp2 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0005 a0001c0002t0004 a0001c0002t0005	a0001c0002t0004g0216 a0001c0002t0005g0069 a0001c0002t0004g0216 a0001c0002t0005g0069	2	320	0.0063	-101	c.238 others(17): Show c.2388+600_2388+700del		EPHA8	ENSG00000070886.12	transcript	ENST00000166244.8	protein_coding	13/16				INFO_REALIGN_3_PRIME	chr1	TogoVar
FLT4_chr5_180596506_180654600	180618300	CCCTCAGC others(94): Show CCCTCAGCCTCTGGGACACCCACGTCCTACTCCCAGAGCACCCTCTCCTG CCCCTCAGCCTCTGGGACACCCACATCCTACTCCAGAGCACCCTCTCCTG CT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA19012.hp1 HG00544.hp2 NA19012.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0005 a0002c0004t0003 a0002c0004t0005	a0002c0004t0003g0162 a0002c0004t0005g0159 a0002c0004t0003g0162 a0002c0004t0005g0159	2	388	0.0052	-101	c.300 others(17): Show c.3001+369_3001+469del		FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	21/29					chr5	TogoVar
FNDC11_chr20_63549159_63561695	63559459	CAGTCAGG others(94): Show CAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGT CAGATGGGAGTCAGTCAGAGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGA GG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG02145.hp1 HG02145.hp2 others(6): Show HG00323.hp1 HG02145.hp1 HG02145.hp2 HG02451.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp1 HG03130.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 a0001c0001t0001 a0001c0003t0001 a0001c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0003t0001g0002 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0003t0001g0002 a0001c0005t0001g0003	9	406	0.0222	-101	c.28 others(11): Show c.2840_*2940del		FNDC11	ENSG00000125531.7	transcript	ENST00000370097.2	protein_coding				2765		chr20	TogoVar
FOXJ3_chr1_42171548_42340235	42324060	ATATACAC others(94): Show ATATACACAGTGTATATATAGTATATATACTGTATATATACTGTGTATAT ACACTGTATATACACAGTGTATATACAGTATATATACTATATATACACTG TG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0025 a0002c0002t0025	a0002c0002t0025g0332 a0002c0002t0025g0332	1	330	0.0030	-101	c.-18 others(19): Show c.-18+10898_-18+10998del		FOXJ3	ENSG00000198815.9	transcript	ENST00000361346.6	protein_coding	1/12					chr1	TogoVar
FRG2C_chr3_75659328_75672173	75661960	CTGAGAGC others(94): Show CTGAGAGCCACTTAGCTAAGCATTGCCTCTCAAGTTTTTCTTTCTTTTCT TTTCTTTTCTTTTCTTTCGACAGAGTTTTCACTCATTGTCCAGGCAGGAG TG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0009 a0009	a0009c0008 a0009c0008	a0009c0008t0016 a0009c0008t0016	a0009c0008t0016g0017 a0009c0008t0016g0017	1	408	0.0025	-101	c.-24 others(11): Show c.-2419_-2319del		FRG2C	ENSG00000172969.8	transcript	ENST00000308062.8	protein_coding				2367		chr3	TogoVar
FUT9_chr6_96010974_96220612	96035863	TTAATATA others(94): Show TTAATATAATATAATACATTATGTTTATTATATTAATATAATATAATACA TTATGTTTATTATATTAATATAATATAATACATTATGTTTATTATATTAA TA	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01099.hp2 others(8): Show HG01069.hp2 HG01071.hp1 HG01099.hp2 HG01123.hp1 HG01358.hp1 HG01981.hp2 HG02300.hp2 HG02486.hp1 HG02602.hp1 HG02738.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 others(5): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0014 a0001c0001t0025 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031	a0001c0001t0003g0199 a0001c0001t0004g0205 a0001c0001t0008g0143 others(7): Show a0001c0001t0003g0199 a0001c0001t0004g0205 a0001c0001t0008g0143 a0001c0001t0008g0239 a0001c0001t0014g0002 a0001c0001t0025g0149 a0001c0001t0029g0267 a0001c0001t0030g0270 a0001c0001t0031g0268 a0001c0001t0031g0269	11	318	0.0346	-101	c.-98 others(19): Show c.-98+19662_-98+19762del		FUT9	ENSG00000172461.11	transcript	ENST00000302103.6	protein_coding	1/2				INFO_REALIGN_3_PRIME	chr6	TogoVar
GAL3ST2_chr2_241771822_241809287	241805918	GGAACCTC others(94): Show GGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCTC CCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCCCCCCTCAGC CC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG02486.hp1 HG01099.hp1 HG02486.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0022 a0002c0002t0002g0112 a0001c0001t0001g0022 a0002c0002t0002g0112	2	312	0.0064	-101	c.17 others(11): Show c.1753_*1853del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding				1632		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241806123	TCCCCCCT others(94): Show TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCA GGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGC CA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	283	0.0035	-101	c.19 others(11): Show c.1958_*2058del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding				1837		chr2	TogoVar

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