Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DLGAP2_chr8_732628_1713476	1643668	CCCTCCAA others(116): Show CCCTCCAACCCGCCGGTCCTCACCTGTGTCACCCTCGACCCCGCCGGCCC TCACCTGTGTCACCCTCGACCCCGCCGGCCCTCACCTGTGTCACCCTCCA ACCCGCCGGTCCTCACCTGTGTCA	C C	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0016 a0006c0011t0016	a0006c0011t0016g0029 a0006c0011t0016g0029	1	40	0.0250	-123	c.181 others(21): Show c.1810+10625_1810+10747del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DMD_chrX_31114222_33216549	32452381	GGGAAAGG others(116): Show GGGAAAGGGAAAGGGAAGGGAAAGGAAAGGGAAAGGGAAAGGGAAAGGGA AAGGGAAAGGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAG GAAAGGAAAGGAAAGGAAAGGAAA	G G	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0065 a0002c0009t0001g0065	1	126	0.0079	-123	c.360 others(19): Show c.3603+2158_3603+2280del	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	26/78			chrX	TogoVar
EGFL7_chr9_136657916_136677678	136675321	GGGCCAGC others(116): Show GGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGAAGGGAGGGGGCCAGCA GGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTG GGGACTGGCAGCAGGAAGGGAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01106.hp1 HG01123.hp1 others(15): Show HG01069.hp1 HG01106.hp1 HG01123.hp1 HG01192.hp1 HG01243.hp1 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01943.hp2 HG02258.hp2 HG02602.hp2 HG02738.hp1 HG03017.hp1 HG03831.hp1 HG03927.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0003c0006	a0001c0001t0001 a0001c0001t0019 a0001c0003t0003 others(4): Show a0001c0001t0001 a0001c0001t0019 a0001c0003t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0008 a0003c0006t0002	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0099 others(11): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0099 a0001c0001t0019g0073 a0001c0003t0003g0153 a0002c0002t0001g0010 a0002c0002t0002g0010 a0002c0002t0002g0075 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0140 a0002c0002t0002g0141 a0002c0002t0008g0010 a0003c0006t0002g0005	18	432	0.0417	-123	c.30 others(11): Show c.3036_*3158del	EGFL7	ENSG00000172889.16	transcript	ENST00000308874.12	protein_coding		2644		chr9	TogoVar
EGFL7_chr9_136657916_136677678	136675362	GGGCCAGC others(116): Show GGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCA GGTAGGCTGGGGACTGGCAGCAGGAAGGGAGGAGGCCAGCAGGTAGGCTG GGGACTGGCAGCAGGGAGGGAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 NA18967.hp1 HG03225.hp2 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0011 a0001c0001t0010g0150 a0001c0001t0001g0011 a0001c0001t0010g0150	2	432	0.0046	-123	c.30 others(11): Show c.3077_*3199del	EGFL7	ENSG00000172889.16	transcript	ENST00000308874.12	protein_coding		2685		chr9	TogoVar
ENOSF1_chr18_665318_717630	667346	AGATGGTG others(116): Show AGATGGTGATGGTGATGGAGATGGTGATGGTGATGGTGATGGTGATGGAG ATGGTGATGGTGATGGTGATGGTGATGGTGATGGAGATGGTGATGGTGAT GGTGATGGTGATGATGGAGATGGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp1 NA18960.hp2 NA19087.hp1 NA18946.hp1 NA18960.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0263 a0001c0001t0001g0323 a0001c0001t0001g0188 a0001c0001t0001g0263 a0001c0001t0001g0323	3	418	0.0072	-123	c.68 others(11): Show c.6836_*6958del	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		2971		chr18	TogoVar
ERFL_chr19_41902704_41933449	41914694	TCCCTCCC others(116): Show TCCCTCCCCTTCCACCATCTCTGTCTCTCCCTCCCCTTCCACCATCTCTG TCTCTCCCTCCCCTTCCACCGTCTCTGTCTCTCCCTCCCCTTCCACCGTC TCTGTCTCTCCCTCCCCCTCCACC	T T	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	330	0.0030	-123	c.-13 others(17): Show c.-13-1885_-13-1763del	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar
ERFL_chr19_41902704_41933449	41914715	TGTCTCTC others(116): Show TGTCTCTCCCTCCCCTTCCACCATCTCTGTCTCTCCCTCCCCTTCCACCG TCTCTGTCTCTCCCTCCCCTTCCACCGTCTCTGTCTCTCCCTCCCCCTCC ACCGTGTCTCCCCCCCTTTCCACC	T T	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02451.hp1 HG02135.hp2 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0003g0220 a0001c0002t0002g0139 a0001c0001t0003g0220 a0001c0002t0002g0139	2	330	0.0061	-123	c.-13 others(17): Show c.-13-1906_-13-1784del	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar
ETS1_chr11_128453765_128592558	128584990	GGAAGGAA others(116): Show GGAAGGAAGGAAGGAAAGAAAGGAAAGAAAGAAGAAAGAAAGAAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAA GGAAAGAAAGAAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0222 a0001c0001t0004g0222	1	286	0.0035	-123	c.-15 others(17): Show c.-15+2375_-15+2497del	ETS1	ENSG00000134954.14	transcript	ENST00000392668.8	protein_coding	1/9			chr11	TogoVar
FAM171A1_chr10_15206643_15376289	15229687	TCACCACC others(116): Show TCACCACCATCACCATCATCATCATCACCACCATCACCATCATCACCATC ACCCCCATCACCATCATCACCATCACCACCATCACCATCATCACCATCAC CACCATCACCATCATCACCATCAC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00597.hp2 HG00621.hp1 others(45): Show HG00558.hp2 HG00597.hp2 HG00621.hp1 HG01257.hp1 HG01258.hp1 HG01884.hp1 HG01884.hp2 HG02056.hp2 HG02145.hp1 HG02155.hp1 HG02258.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02717.hp2 HG02723.hp1 HG02965.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03453.hp1 HG03486.hp1 HG03579.hp1 HG03579.hp2 HG03834.hp2 HG04228.hp2 HG06807.hp1 NA18747.hp2 NA18943.hp2 NA18947.hp1 NA18952.hp1 NA18955.hp1 NA18962.hp2 NA18973.hp1 NA18975.hp2 NA18977.hp1 NA18982.hp1 NA18984.hp1 NA19000.hp2 NA19003.hp1 NA19011.hp2 NA19043.hp1 NA19056.hp2 NA19085.hp1 NA19088.hp1 NA21309.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0001c0005 others(4): Show a0001c0001 a0001c0003 a0001c0005 a0001c0010 a0001c0017 a0002c0002 a0004c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0026 a0001c0003t0002 a0001c0003t0003 a0001c0005t0011 a0001c0005t0023 a0001c0010t0001 a0001c0017t0001 a0002c0002t0002 a0004c0015t0002	a0001c0001t0001g0124 a0001c0001t0001g0130 a0001c0001t0001g0137 others(45): Show a0001c0001t0001g0124 a0001c0001t0001g0130 a0001c0001t0001g0137 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0216 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0002g0013 a0001c0001t0002g0029 a0001c0001t0002g0060 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0101 a0001c0001t0003g0243 a0001c0001t0003g0247 a0001c0001t0003g0272 a0001c0001t0003g0278 a0001c0001t0003g0286 a0001c0001t0003g0293 a0001c0001t0005g0123 a0001c0001t0008g0121 a0001c0001t0009g0001 a0001c0001t0009g0002 a0001c0001t0009g0003 a0001c0001t0026g0252 a0001c0003t0002g0033 a0001c0003t0002g0090 a0001c0003t0002g0114 a0001c0003t0003g0283 a0001c0003t0003g0298 a0001c0005t0011g0015 a0001c0005t0011g0056 a0001c0005t0011g0100 a0001c0005t0023g0235 a0001c0010t0001g0122 a0001c0017t0001g0142 a0002c0002t0002g0022 a0002c0002t0002g0023 a0004c0015t0002g0117	48	303	0.1584	-123	c.755 others(17): Show c.755-8750_755-8628del	FAM171A1	ENSG00000148468.17	transcript	ENST00000378116.9	protein_coding	5/7			chr10	TogoVar
FAM171A1_chr10_15206643_15376289	15229798	TCATCACC others(116): Show TCATCACCATCACCACCACCATCACCATCATCATCATCACCACCATCACC ATCATCACCATCACCCCCATCACCATCATCACCATCACCACCATCACCAT CATCACCATCACCACCATCACCAA	T T	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	303	0.0033	-123	c.755 others(17): Show c.755-8861_755-8739del	FAM171A1	ENSG00000148468.17	transcript	ENST00000378116.9	protein_coding	5/7			chr10	TogoVar
FBXO34_chr14_55266421_55358611	55331645	AATATATA others(116): Show AATATATATATACCAACATGGTGTGTGTATATATATATATGTGTATATAT ATATATATATGTATATATATATGTATATATATATGTATATATATATGTGT GTATATATATATATATGTATATAT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02647.hp2 HG02809.hp2 others(3): Show HG01081.hp1 HG02647.hp2 HG02809.hp2 HG02965.hp2 HG02970.hp1 NA19074.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0040 a0003c0003t0002g0052 a0003c0003t0002g0071 others(3): Show a0003c0003t0002g0040 a0003c0003t0002g0052 a0003c0003t0002g0071 a0003c0003t0002g0075 a0003c0003t0002g0076 a0003c0003t0002g0077	6	334	0.0180	-123	c.-10 others(19): Show c.-10-18721_-10-18599del	FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
FOCAD_chr9_20679259_21000950	20999806	ACAAAACG others(116): Show ACAAAACGTGTCATCCCTGCTCTCATGGAACTTACAGTCAGAGAATATAA ATCACTAAACCATCATGAAGTAAGAACAGAACATGTTATAAATGTCCTAC TTCTGCAAAGCCCTTTATAATTTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02970.hp1 HG03453.hp1 HG02572.hp1 HG02970.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012	3	320	0.0094	-123	c.41 others(11): Show c.4178_*4300del	FOCAD	ENSG00000188352.13	transcript	ENST00000338382.11	protein_coding		3857		chr9	TogoVar
FOXN3_chr14_89151177_89422233	89361056	ACTACCTC others(116): Show ACTACCTCCAGCACCACCTCCACCACCACCACCTCCAGCACCACCACCAC CACCACCTCCACCACTACCACCTCCAGCACCACCTCCACCACCACCACCT CCAGCACTACCTCCAGCACCACCT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0002 a0001c0001t0031g0002	1	230	0.0044	-123	c.544 others(19): Show c.544-10371_544-10249del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361731	CACCACCT others(116): Show CACCACCTCCACCACCACCTCCACCACCACCTCCACCACCACCACCTCCA GCACCACCACCTCCACCACCACCACCTCCACCACCACCTCCACCACCACC TCCACCACTACCACCTCCAGCACT	C C	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0097 a0001c0001t0005g0097	1	230	0.0044	-123	c.544 others(19): Show c.544-11046_544-10924del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361982	CCACTACC others(116): Show CCACTACCACCTCCAGCACCACCTCCACCACCACCTCCACCACTACCACC TCCAGCACCACCACCTCCACCACCACCTCCACCACTACCACCTCCAGCAC CACCTCCACCACTACCACCTCCAG	C C	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0224 a0001c0001t0042g0224	1	230	0.0044	-123	c.544 others(19): Show c.544-11297_544-11175del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
GALNS_chr16_88808734_88861947	88823462	GTGCCCAG others(116): Show GTGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGG ACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCCAGGACGGCCCTC GCAGGCGGCAATGCCGGGGACCGA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA18966.hp1 NA19009.hp2 HG00423.hp2 NA18966.hp1 NA19009.hp2	a0001 a0001	a0001c0004 a0001c0025 a0001c0004 a0001c0025	a0001c0004t0001 a0001c0025t0001 a0001c0004t0001 a0001c0025t0001	a0001c0004t0001g0046 a0001c0004t0001g0241 a0001c0025t0001g0222 a0001c0004t0001g0046 a0001c0004t0001g0241 a0001c0025t0001g0222	3	404	0.0074	-123	c.124 others(17): Show c.1243-875_1243-753del	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	11/13			chr16	TogoVar
GNPTAB_chr12_101740499_101835959	101834935	ATAAGCAG others(116): Show ATAAGCAGCCACATACATTTAGCATAAGCAAATCCCATGCAATACTTAAA AAGCTTTATTTACTTGAAATTCACATATAACTGTGTGTCCTGTATTTTTT ATTTTATTTTATTTTTTTGAGATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0205 a0002c0009t0001g0205	1	392	0.0026	-123	c.-43 others(11): Show c.-4383_-4261del	GNPTAB	ENSG00000111670.16	transcript	ENST00000299314.12	protein_coding		3977		chr12	TogoVar
GOLGA3_chr12_132763914_132833869	132805296	GCCCCGAG others(116): Show GCCCCGAGACCCCCAGGCGCTCTCCCAAGGCCTGACAGGGGACCCCGAGA CCCCCAGGCGCTCTCCCAAGGCCTGACAGGGGACCCCGAGACCCCCAGGC GCTCTCCCAAGGCCTGACAGGGGA	G G	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0157 a0001c0003t0011g0157	1	308	0.0033	-123	c.129 others(17): Show c.1291-397_1291-275del	GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	6/23			chr12	TogoVar
GOLGA3_chr12_132763914_132833869	132805498	GGGACCCC others(116): Show GGGACCCCGAGACCCCCAGGCGCTCTCCCAAGGCCTGACAGGGGACCCCG AGACCCCCAGGCGCTCTCCCAAGGCCTGACAGGGGACCCCGAGACCCCCA GGCGCTCTCCCAAGGCCTGACAGA	G G	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0018 a0018	a0018c0033 a0018c0033	a0018c0033t0061 a0018c0033t0061	a0018c0033t0061g0103 a0018c0033t0061g0103	1	308	0.0033	-123	c.129 others(17): Show c.1291-599_1291-477del	GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	6/23			chr12	TogoVar
GPIHBP1_chr8_143208218_143222170	143219799	TTAACCAC others(116): Show TTAACCACGCCTCCCTCCTGACTCAACTCATGGGACAGACCCTAACCACA CCTCCCTCCTGACTCAACTCATCGGACAAACCCTAACCACGCCTCCCTCC TGACTCAACTCATGGGACAAACCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG01934.hp2 HG02257.hp1 others(15): Show HG00558.hp2 HG01934.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02735.hp1 HG02886.hp2 HG03041.hp2 HG03225.hp1 HG03579.hp2 NA18951.hp1 NA19004.hp1 NA19005.hp2 NA19030.hp2 NA19088.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0005 a0001c0003t0008 a0001c0003t0010 others(2): Show a0001c0003t0005 a0001c0003t0008 a0001c0003t0010 a0001c0003t0013 a0002c0002t0001	a0001c0003t0005g0002 a0001c0003t0005g0018 a0001c0003t0008g0002 others(3): Show a0001c0003t0005g0002 a0001c0003t0005g0018 a0001c0003t0008g0002 a0001c0003t0010g0002 a0001c0003t0013g0002 a0002c0002t0001g0001	18	106	0.1698	-123	c.42 others(11): Show c.4282_*4404del	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		2630		chr8	TogoVar
GPR89B_chr1_147923420_147998592	147949297	TGGCTGGG others(116): Show TGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GTGCCCCTCACCTCCCAGACCGGGTGGCTGGCTGGGCGGGGGGCTGACCC CCCCACCTCCCTCCCGGACGGGGC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0007 a0001c0007t0007	a0001c0007t0007g0256 a0001c0007t0007g0256	1	274	0.0037	-123	c.416 others(17): Show c.416-4041_416-3919del	GPR89B	ENSG00000188092.15	transcript	ENST00000314163.12	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
HACD4_chr9_20994509_21036640	20999806	ACAAAACG others(116): Show ACAAAACGTGTCATCCCTGCTCTCATGGAACTTACAGTCAGAGAATATAA ATCACTAAACCATCATGAAGTAAGAACAGAACATGTTATAAATGTCCTAC TTCTGCAAAGCCCTTTATAATTTG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02572.hp2 HG02970.hp1 HG03453.hp2 HG02572.hp2 HG02970.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0035 a0001c0001t0018g0104 a0001c0001t0018g0035 a0001c0001t0018g0104	3	434	0.0069	-123	c.71 others(11): Show c.7108_*7230del	HACD4	ENSG00000188921.14	transcript	ENST00000495827.3	protein_coding	7/7	7108		chr9	TogoVar
HCN2_chr19_584881_622159	604088	GTGGGGCT others(116): Show GTGGGGCTATGAGAGATCTGGGTGGGGTCAAGGCCCCAGGGGTGGGGCTA TGGGAGATCTGGGTGGGGTCAAGGCCCCAGGGATGGGGCTATGAGAGATC TGAGTGGGGTCAAGGCCCCAGGGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00438.hp1 others(122): Show HG00099.hp1 HG00280.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00741.hp1 HG01081.hp1 HG01099.hp2 HG01192.hp1 HG01243.hp2 HG01256.hp2 HG01261.hp2 HG01891.hp1 HG01891.hp2 HG01978.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp2 HG02074.hp1 HG02083.hp2 HG02109.hp1 HG02135.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02717.hp1 HG02809.hp1 HG02809.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03239.hp2 HG03453.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03669.hp2 HG03688.hp2 HG03831.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18522.hp1 NA18747.hp1 NA18906.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18950.hp1 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18960.hp2 NA18966.hp1 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18973.hp2 NA18979.hp1 NA18983.hp2 NA18985.hp1 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18998.hp2 NA18999.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp2 NA19056.hp2 NA19063.hp1 NA19066.hp2 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19080.hp1 NA19082.hp2 NA19083.hp1 NA19085.hp1 NA19088.hp1 NA19089.hp1 NA19089.hp2 NA19090.hp2 NA19240.hp1 NA20300.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0004 a0009 a0010 a0012 a0013 a0014 a0016 a0024 a0026 a0028 a0029 a0031 a0034	a0001c0001 a0001c0002 a0001c0003 others(53): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0008 a0001c0014 a0001c0016 a0001c0017 a0001c0019 a0001c0022 a0001c0024 a0001c0025 a0001c0030 a0001c0032 a0001c0040 a0001c0041 a0001c0096 a0001c0097 a0001c0098 a0001c0101 a0001c0102 a0001c0103 a0001c0104 a0001c0113 a0001c0116 a0001c0123 a0001c0124 a0001c0126 a0002c0006 a0002c0011 a0002c0015 a0002c0020 a0002c0035 a0002c0070 a0002c0071 a0002c0072 a0002c0075 a0003c0034 a0003c0062 a0003c0065 a0004c0138 a0004c0139 a0004c0142 a0009c0152 a0010c0133 a0012c0125 a0013c0105 a0014c0074 a0016c0137 a0024c0057 a0026c0106 a0028c0084 a0029c0069 a0031c0150 a0034c0094	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(77): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0003 a0001c0002t0004 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0006 a0001c0003t0007 a0001c0003t0010 a0001c0003t0017 a0001c0005t0001 a0001c0005t0002 a0001c0005t0007 a0001c0007t0006 a0001c0008t0002 a0001c0008t0012 a0001c0014t0025 a0001c0016t0001 a0001c0017t0003 a0001c0017t0004 a0001c0017t0008 a0001c0019t0002 a0001c0019t0023 a0001c0022t0001 a0001c0024t0001 a0001c0024t0004 a0001c0024t0005 a0001c0025t0002 a0001c0025t0004 a0001c0030t0004 a0001c0032t0004 a0001c0032t0005 a0001c0032t0027 a0001c0040t0001 a0001c0041t0003 a0001c0096t0004 a0001c0097t0001 a0001c0098t0004 a0001c0101t0004 a0001c0102t0009 a0001c0103t0004 a0001c0104t0001 a0001c0113t0001 a0001c0116t0003 a0001c0123t0001 a0001c0124t0004 a0001c0126t0015 a0002c0006t0003 a0002c0011t0001 a0002c0011t0002 a0002c0015t0006 a0002c0020t0003 a0002c0020t0004 a0002c0020t0019 a0002c0035t0001 a0002c0035t0024 a0002c0070t0001 a0002c0071t0002 a0002c0072t0004 a0002c0075t0002 a0003c0034t0003 a0003c0062t0001 a0003c0065t0001 a0004c0138t0002 a0004c0139t0026 a0004c0142t0004 a0009c0152t0001 a0010c0133t0001 a0012c0125t0006 a0013c0105t0005 a0014c0074t0001 a0016c0137t0002 a0024c0057t0002 a0026c0106t0005 a0028c0084t0003 a0029c0069t0001 a0031c0150t0003 a0034c0094t0004	a0001c0001t0001g0083 a0001c0001t0001g0155 a0001c0001t0001g0158 others(122): Show a0001c0001t0001g0083 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0002g0055 a0001c0001t0002g0077 a0001c0001t0002g0164 a0001c0001t0004g0229 a0001c0002t0003g0147 a0001c0002t0003g0154 a0001c0002t0003g0162 a0001c0002t0004g0183 a0001c0003t0001g0018 a0001c0003t0001g0087 a0001c0003t0001g0090 a0001c0003t0001g0170 a0001c0003t0001g0180 a0001c0003t0001g0206 a0001c0003t0001g0207 a0001c0003t0001g0231 a0001c0003t0002g0110 a0001c0003t0002g0111 a0001c0003t0002g0179 a0001c0003t0002g0192 a0001c0003t0002g0203 a0001c0003t0002g0205 a0001c0003t0002g0210 a0001c0003t0002g0219 a0001c0003t0002g0223 a0001c0003t0002g0232 a0001c0003t0004g0012 a0001c0003t0006g0201 a0001c0003t0007g0067 a0001c0003t0010g0196 a0001c0003t0017g0384 a0001c0005t0001g0066 a0001c0005t0001g0088 a0001c0005t0001g0089 a0001c0005t0001g0165 a0001c0005t0001g0189 a0001c0005t0001g0190 a0001c0005t0001g0193 a0001c0005t0001g0194 a0001c0005t0001g0212 a0001c0005t0002g0086 a0001c0005t0007g0222 a0001c0007t0006g0249 a0001c0008t0002g0379 a0001c0008t0012g0371 a0001c0014t0025g0248 a0001c0016t0001g0373 a0001c0017t0003g0115 a0001c0017t0004g0030 a0001c0017t0004g0397 a0001c0017t0008g0010 a0001c0017t0008g0013 a0001c0019t0002g0052 a0001c0019t0023g0039 a0001c0022t0001g0370 a0001c0024t0001g0036 a0001c0024t0001g0050 a0001c0024t0004g0059 a0001c0024t0005g0049 a0001c0025t0002g0057 a0001c0025t0004g0051 a0001c0030t0004g0100 a0001c0032t0004g0044 a0001c0032t0005g0035 a0001c0032t0027g0061 a0001c0040t0001g0153 a0001c0040t0001g0202 a0001c0041t0003g0191 a0001c0041t0003g0195 a0001c0096t0004g0200 a0001c0097t0001g0029 a0001c0098t0004g0382 a0001c0101t0004g0208 a0001c0102t0009g0097 a0001c0103t0004g0101 a0001c0104t0001g0221 a0001c0113t0001g0369 a0001c0116t0003g0171 a0001c0123t0001g0054 a0001c0124t0004g0043 a0001c0126t0015g0047 a0002c0006t0003g0251 a0002c0006t0003g0321 a0002c0011t0001g0253 a0002c0011t0001g0262 a0002c0011t0001g0290 a0002c0011t0001g0308 a0002c0011t0001g0354 a0002c0011t0001g0363 a0002c0011t0002g0266 a0002c0011t0002g0270 a0002c0015t0006g0292 a0002c0020t0003g0268 a0002c0020t0003g0333 a0002c0020t0004g0298 a0002c0020t0019g0269 a0002c0035t0001g0267 a0002c0035t0024g0288 a0002c0070t0001g0305 a0002c0071t0002g0300 a0002c0072t0004g0250 a0002c0075t0002g0260 a0003c0034t0003g0148 a0003c0062t0001g0230 a0003c0065t0001g0034 a0004c0138t0002g0319 a0004c0139t0026g0352 a0004c0142t0004g0386 a0009c0152t0001g0320 a0010c0133t0001g0033 a0012c0125t0006g0046 a0013c0105t0005g0133 a0014c0074t0001g0286 a0016c0137t0002g0372 a0024c0057t0002g0399 a0026c0106t0005g0220 a0028c0084t0003g0281 a0029c0069t0001g0287 a0031c0150t0003g0094 a0034c0094t0004g0368	125	408	0.3064	-123	c.105 others(17): Show c.1056+223_1056+345del	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HLA-F_chr6_29718434_29732296	29722752	GAGAAGGA others(116): Show GAGAAGGAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0005 a0002c0002t0001g0005	1	443	0.0023	-123	c.-71 others(9): Show c.-711_-589del	HLA-F	ENSG00000204642.14	transcript	ENST00000259951.12	protein_coding		681		chr6	TogoVar
HLA-F_chr6_29718434_29732296	29722758	GAGAGGAA others(116): Show GAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 HG02132.hp1 HG02040.hp1 HG02132.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0006	2	443	0.0045	-123	c.-70 others(9): Show c.-705_-583del	HLA-F	ENSG00000204642.14	transcript	ENST00000259951.12	protein_coding		675		chr6	TogoVar
HMCN2_chr9_130260760_130439123	130277929	CATCACCA others(116): Show CATCACCACCACCATCATCATCATCACCACCACCACCACCATCATCATCA CCACCACCACGATCATCACCACCACCACCATCATCATCACCACCACCACG ATCATCACCACCACCATCATCATT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0226 a0001c0226	a0001c0226t0001 a0001c0226t0001	a0001c0226t0001g0010 a0001c0226t0001g0010	1	258	0.0039	-123	c.260 others(17): Show c.260-6672_260-6550del	HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	1/97		INFO_REALIGN_3_PRIME	chr9	TogoVar
HMCN2_chr9_130260760_130439123	130277931	TCACCACC others(116): Show TCACCACCACCATCATCATCATCACCACCACCACCACCATCATCATCACC ACCACCACGATCATCACCACCACCACCATCATCATCACCACCACCACGAT CATCACCACCACCATCATCATTAC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0030 a0001c0030	a0001c0030t0001 a0001c0030t0001	a0001c0030t0001g0014 a0001c0030t0001g0014	1	258	0.0039	-123	c.260 others(17): Show c.260-6660_260-6538del	HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	1/97		INFO_REALIGN_3_PRIME	chr9	TogoVar
IFNAR2_chr21_33224938_33270664	33239959	CCCTCAAT others(116): Show CCCTCAATGTTGTGAGCTACAGGTTCTATATTCTCCCTTCTGCAGGCCCA GAGTGGTCACAGCCCTCAATGTTGTGAGCTACAGGTTCTGGAGTCTCCCT TCTGGGCCCCAGAGTGGTCACAGG	C C	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0120 a0002c0002t0004g0120	1	424	0.0024	-123	c.-83 others(17): Show c.-83-1863_-83-1741del	IFNAR2	ENSG00000159110.22	transcript	ENST00000342136.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr21	TogoVar
IL3RA_chrX_1331785_1387689	1366487	CCGGGTGC others(116): Show CCGGGTGCCCCGGGTGAGCGGGGTGCGCGGGGTGAGCCCGGTGAGCCGGG TGCGCGGGGTGAGCCGGGTGCGCGGGGTGAGCCGGGTGAGCGGGGTGAGC GGGGTGCGCGGTGCGCGGGGTGAG	C C	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0012 a0012	a0012c0009 a0012c0009	a0012c0009t0012 a0012c0009t0012	a0012c0009t0012g0041 a0012c0009t0012g0041	1	115	0.0087	-123	c.874 others(17): Show c.874+1240_874+1362del	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
INPP5K_chr17_1489577_1521612	1509039	GCAGACCC others(116): Show GCAGACCCAGGCTCACTCGTGGGGGTCAGCGTGGGGCAGAGGGCGGGGAG CGGTCTGCAGACCCAGGCTCACTCGTGGGGGTTAGTGGGGGTTAGCGTGG GGCAGAGGGCGGGGAACGGTCTGC	G G	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0051 a0001c0001t0029g0051	1	420	0.0024	-123	c.554 others(14): Show c.554+16_554+138del	INPP5K	ENSG00000132376.20	transcript	ENST00000421807.7	protein_coding	5/11			chr17	TogoVar
IQCG_chr3_197884077_197964991	197900537	CACCAGCT others(116): Show CACCAGCTCAGCCACAGCAGAACAAGGCTCTGGGCAGAGGATACCAGCTC AGCCACAGCAGAACAGGGCACTCGGCAGAGGATACCAGCTCAGCCACAGT AGAATAGGGCACTGGGCAGAGGAT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02572.hp2 HG02970.hp2 others(1): Show HG02559.hp1 HG02572.hp2 HG02970.hp2 HG03041.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0124 a0001c0003t0003g0127 a0001c0003t0003g0128 others(1): Show a0001c0003t0003g0124 a0001c0003t0003g0127 a0001c0003t0003g0128 a0001c0003t0003g0129	4	280	0.0143	-123	c.964 others(17): Show c.964-7901_964-7779del	IQCG	ENSG00000114473.14	transcript	ENST00000265239.11	protein_coding	9/11			chr3	TogoVar
ITIH2_chr10_7698316_7754520	7737843	ATTATATA others(116): Show ATTATATATTATATTCTATATATTATATATTATATTCTATATATTATATA TTATATTCTATATATTATATATTATATTCTATATATTATATATTATATTC TATATATTATATATTATATTCTAT	A A	intron_variant intron_variant	MODIFIER	HG04204.hp2 NA18999.hp2 HG04204.hp2 NA18999.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0004 a0001c0002 a0003c0004	a0001c0002t0001 a0003c0004t0001 a0001c0002t0001 a0003c0004t0001	a0001c0002t0001g0298 a0003c0004t0001g0361 a0001c0002t0001g0298 a0003c0004t0001g0361	2	380	0.0053	-123	c.195 others(17): Show c.1958-777_1958-655del	ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20			chr10	TogoVar
ITIH2_chr10_7698316_7754520	7737864	ATTATATA others(116): Show ATTATATATTATATTCTATATATTATATATTATATTCTATATATTATATA TTATATTCTATATATTATATATTATATTCTATATATTATATATTATATTC TATATATTATATATTATATTCTAT	A A	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0193 a0002c0003t0001g0193	1	380	0.0026	-123	c.195 others(17): Show c.1958-756_1958-634del	ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20			chr10	TogoVar
ITIH2_chr10_7698316_7754520	7738051	ATATTATA others(116): Show ATATTATATATTATATTCTATATATTATATATTATATTCTATATATTATA TATTATATTCTATATATTATATATTATATTCTATATATTATATATTATAT TCTATATATTATATATTATATTCT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01123.hp2 HG01261.hp1 others(31): Show HG00423.hp2 HG01123.hp2 HG01261.hp1 HG01358.hp1 HG01952.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02027.hp1 HG02071.hp1 HG02273.hp1 HG02630.hp2 HG02647.hp1 HG02809.hp1 HG03239.hp1 HG04115.hp1 NA18747.hp1 NA18951.hp2 NA18955.hp2 NA18956.hp1 NA18966.hp2 NA18969.hp2 NA18984.hp1 NA18984.hp2 NA19001.hp1 NA19005.hp2 NA19012.hp2 NA19055.hp2 NA19066.hp2 NA19077.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19086.hp2	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0001 a0001c0002 a0001c0013 others(2): Show a0001c0001 a0001c0002 a0001c0013 a0002c0003 a0012c0022	a0001c0001t0001 a0001c0002t0001 a0001c0013t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0013t0001 a0002c0003t0001 a0012c0022t0001	a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0018 others(31): Show a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0239 a0001c0002t0001g0299 a0001c0002t0001g0308 a0001c0002t0001g0310 a0001c0002t0001g0311 a0001c0002t0001g0318 a0001c0002t0001g0319 a0001c0002t0001g0320 a0001c0002t0001g0321 a0001c0002t0001g0325 a0001c0002t0001g0326 a0001c0002t0001g0327 a0001c0002t0001g0329 a0001c0002t0001g0330 a0001c0002t0001g0331 a0001c0002t0001g0332 a0001c0002t0001g0333 a0001c0002t0001g0334 a0001c0002t0001g0336 a0001c0002t0001g0337 a0001c0002t0001g0338 a0001c0013t0001g0341 a0002c0003t0001g0026 a0002c0003t0001g0027 a0002c0003t0001g0029 a0002c0003t0001g0030 a0002c0003t0001g0033 a0002c0003t0001g0185 a0002c0003t0001g0186 a0002c0003t0001g0187 a0012c0022t0001g0309	34	380	0.0895	-123	c.195 others(17): Show c.1958-569_1958-447del	ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20			chr10	TogoVar
KAT6B_chr10_74821600_75037624	74930422	TTTAACTT others(116): Show TTTAACTTACCTGTGATTTTGACTCACATAGACTTAGCTGAAATGAAACA TAGTAAGTACAGATTTAAATATGTATGTATTTGAGTAGAAATCTTTCCAC CTGTATGCAGGTAGTTTTTTGTAA	T T	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0089	1	236	0.0042	-123	c.622 others(19): Show c.622-29546_622-29424del	KAT6B	ENSG00000156650.14	transcript	ENST00000287239.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
KIAA0232_chr4_6777727_6889164	6880254	TCCCCTCA others(116): Show TCCCCTCACCATCTGTACTGTGTCACTGCAAACTCCCTTCCCAACACACA GGTCTGTAGTGTCGCCTCACCATCTGTACTGTGTCACTGCAAACTCCCTT CCCAACACACCCGTCTGCAGTGCC	T T	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp1 HG03491.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0215 a0001c0001t0006g0216 a0001c0001t0006g0215 a0001c0001t0006g0216	2	362	0.0055	-123	c.400 others(17): Show c.4009-520_4009-398del	KIAA0232	ENSG00000170871.12	transcript	ENST00000307659.6	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
KIAA1549L_chr11_33371108_33679102	33675343	AAAGGAAG others(116): Show AAAGGAAGTGGTGGTGCCTATGTCAGTACCAGGAGTAGGAGGCAGACACA GGCACAGGAAGCTGGAAAAGGCATATTGCAAGCCCAGCTTCGCCTTGCTA AGTCTCCATCATAAACAGGAGAAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0037 a0001c0024t0037	a0001c0024t0037g0139 a0001c0024t0037g0139	1	226	0.0044	-123	c.71 others(11): Show c.7190_*7312del	KIAA1549L	ENSG00000110427.17	transcript	ENST00000658780.2	protein_coding		1242		chr11	TogoVar
LDLRAD3_chr11_35939062_36237136	36231705	TAAAAATA others(116): Show TAAAAATATATAAATAGGACACCAAAGCGGCAGGGTTTTTTTGGGGGGGA GGGGGTTTGTTTTCCAACTCAAGATGGCACATTAGTGGCCAGCAATATTT TTTAACTCATTCCAACCAGGAAGC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0057 a0001c0001t0023g0057	1	236	0.0042	-123	c.23 others(11): Show c.2309_*2431del	LDLRAD3	ENSG00000179241.13	transcript	ENST00000315571.6	protein_coding	6/6	2309		chr11	TogoVar
LGR6_chr1_202188799_202324761	202204730	AACACACA others(116): Show AACACACACACACCTCCAAACACACACACACACCCCTCCTTCAAACACAC ACACACACCTCCACACACACCTAACACACACTTCCTTCAAACACACACCC TCGAAACACATGTCCTTCAAACAC	A A	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0091 a0002c0002t0003g0091	1	262	0.0038	-123	c.212 others(19): Show c.212+10538_212+10660del	LGR6	ENSG00000133067.18	transcript	ENST00000367278.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
LRBA_chr4_150259435_151020284	150658509	CCCTCTCC others(116): Show CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTGCCT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	180	0.0056	-123	c.592 others(21): Show c.5921+24919_5921+25041del	LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	37/56			chr4	TogoVar
LRIT3_chr4_109843107_109877315	109847485	AGATAGTT others(116): Show AGATAGTTGCCTGCATTAAAAATAAATGTGCTGGGATAAACCTTCCACAC ACTGAGATGACCTGGAAGAGTCTCAGAACACGTTCTTATTGGAGAACTTA GTCCTGCCACATCAGTAGTGGATT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG03041.hp2 HG03195.hp1 HG02647.hp1 HG03041.hp2 HG03195.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0014 a0003c0003t0014	a0003c0003t0014g0016 a0003c0003t0014g0150 a0003c0003t0014g0016 a0003c0003t0014g0150	3	332	0.0090	-123	c.-71 others(9): Show c.-716_-594del	LRIT3	ENSG00000183423.12	transcript	ENST00000594814.6	protein_coding		621		chr4	TogoVar
MAP3K15_chrX_19355059_19520508	19452093	GAGAAGAG others(116): Show GAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA GAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA GAGAAGAGAAGAGAAGAGAAGAGA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0146 a0001c0001t0002g0146	1	163	0.0061	-123	c.995 others(17): Show c.995+4697_995+4819del	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	6/28			chrX	TogoVar
MAP4K4_chr2_101692707_101899690	101785671	TTTCTCCC others(116): Show TTTCTCCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG03130.hp2 HG03139.hp1 others(3): Show HG02080.hp2 HG03130.hp2 HG03139.hp1 NA18955.hp1 NA18968.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0005 a0001c0002t0019 others(1): Show a0001c0001t0004 a0001c0002t0005 a0001c0002t0019 a0001c0002t0023	a0001c0001t0004g0003 a0001c0001t0004g0004 a0001c0001t0004g0005 others(3): Show a0001c0001t0004g0003 a0001c0001t0004g0004 a0001c0001t0004g0005 a0001c0002t0005g0266 a0001c0002t0019g0280 a0001c0002t0023g0274	6	310	0.0194	-123	c.124 others(17): Show c.124-5044_124-4922del	MAP4K4	ENSG00000071054.17	transcript	ENST00000324219.9	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr2	TogoVar
MBD2_chr18_54146606_54229669	54169317	ACTTGCAC others(116): Show ACTTGCACTAAACGTACTCCAATAGTCAGTCAGCTCCTCTCACCAAATTC CATGATCTTTTCTCATTATCTTTGGCCACTATGGGCCTCAGTGCTTCAGA GGGAGCAGGGAAGGAAAAGGTCTT	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0091 a0001c0001t0022g0091	1	300	0.0033	-123	c.841 others(17): Show c.841-3274_841-3152del	MBD2	ENSG00000134046.12	transcript	ENST00000256429.8	protein_coding	3/6			chr18	TogoVar
MCF2L_chr13_112964214_113104742	113012461	GGTGGTGT others(116): Show GGTGGTGTGGATGGTGGACAGGCGGTGTGGACGGTGGACAGGCTGGGTGG ATGGTGGACACTGCAATGAGGACGGTGGACACTGCGATGAGGACAGTGGA CAGGTGGTGTGGACGGTGGACACT	G G	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0102 a0001c0004t0001g0102	1	116	0.0086	-123	c.80- others(15): Show c.80-2300_80-2178del	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
MLPH_chr2_237482251_237560322	237543594	TGGGAGGA others(116): Show TGGGAGGACAGTGGTGAGTGGGGGACAGTAGTGAGTGGGGGACAGTGGTG AGTGGGGACAGTGGTGAGTGGGGGCACGGTAGTGACTGGGGCGACAGTGG TGAGTGGGGGGACAGTGGTGAGTG	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02280.hp1 HG01884.hp1 HG02280.hp1	a0003 a0016 a0003 a0016	a0003c0003 a0016c0024 a0003c0003 a0016c0024	a0003c0003t0005 a0016c0024t0005 a0003c0003t0005 a0016c0024t0005	a0003c0003t0005g0242 a0016c0024t0005g0138 a0003c0003t0005g0242 a0016c0024t0005g0138	2	286	0.0070	-123	c.153 others(18): Show c.1539+939_1539+1061del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237545042	TGGGGACA others(116): Show TGGGGACAGTGGGTGGAGGGGGCACTATTGGTAGGGGGGACAATTATTGG GGGGGGGCACTAATTGTGAGGGGGGACCAGTGTTGAGTGGGGGAATAGTT ATGAGTGGGGACAGTGGTGAGTGG	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02622.hp1 HG02630.hp2 others(5): Show HG02451.hp1 HG02622.hp1 HG02630.hp2 HG02886.hp1 HG02976.hp2 HG03471.hp2 HG03516.hp2 NA18522.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0001 a0003c0003t0002 a0003c0003t0003	a0003c0003t0001g0106 a0003c0003t0001g0107 a0003c0003t0001g0108 others(5): Show a0003c0003t0001g0106 a0003c0003t0001g0107 a0003c0003t0001g0108 a0003c0003t0002g0238 a0003c0003t0002g0240 a0003c0003t0002g0262 a0003c0003t0003g0134 a0003c0003t0003g0241	8	286	0.0280	-123	c.154 others(19): Show c.1540-1552_1540-1430del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLYCD_chr16_83894115_83932031	83918459	GGTGCACA others(116): Show GGTGCACAGGAGAACACACACAGTGCACAGGAGAACACGCACAGTGCACA GGAGAACACAGAGTGCACAGGAGAACACATGGTGCACAGGAGAACACGCA CACACGGTGCACAGAACACACACA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0062	a0001c0001t0062g0053 a0001c0001t0062g0053	1	432	0.0023	-123	c.29 others(11): Show c.2987_*3109del	MLYCD	ENSG00000103150.7	transcript	ENST00000262430.6	protein_coding	5/5	2987	INFO_REALIGN_3_PRIME	chr16	TogoVar
MTUS2_chr13_28815339_29510947	29492087	AATGCGTG others(116): Show AATGCGTGGTAGGTGTGTATGTGTGTGGTGTGTGTGTGTATGTGATGTGT GTGGTAGGTGTGTATGTGTGTGTGGTGTGTATGTGATGTGTGTGGTAGGT GTGTATGTGTGTGTGGTGTGTATG	A A	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0018 a0006c0007t0018	a0006c0007t0018g0028 a0006c0007t0018g0028	1	92	0.0109	-123	c.350 others(17): Show c.3506-558_3506-436del	MTUS2	ENSG00000132938.22	transcript	ENST00000612955.6	protein_coding	11/15			chr13	TogoVar
MYO16_chr13_108624611_109213005	108873629	GCCAACCA others(116): Show GCCAACCAACCAGGACAGGGTCCATGCCAACCAACCAGGACAGGGTCCAT GCCAACCAACAGGACAGGGTCCATGCCAACCAACCAGGACAGGGCCCATG CCAACCACCAGGACAGGGTCCATC	G G	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00738.hp1 HG01261.hp2 others(9): Show HG00673.hp1 HG00738.hp1 HG01261.hp2 HG02602.hp1 HG03490.hp2 HG03669.hp1 NA18964.hp2 NA18969.hp1 NA18969.hp2 NA18989.hp2 NA18995.hp1 NA19011.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0013 a0014 a0015	a0001c0007 a0001c0017 a0002c0001 others(6): Show a0001c0007 a0001c0017 a0002c0001 a0003c0004 a0004c0003 a0013c0011 a0014c0049 a0015c0056 a0015c0057	a0001c0007t0001 a0001c0017t0001 a0002c0001t0002 others(7): Show a0001c0007t0001 a0001c0017t0001 a0002c0001t0002 a0002c0001t0019 a0003c0004t0002 a0004c0003t0002 a0013c0011t0001 a0014c0049t0002 a0015c0056t0001 a0015c0057t0001	a0001c0007t0001g0010 a0001c0017t0001g0119 a0002c0001t0002g0059 others(9): Show a0001c0007t0001g0010 a0001c0017t0001g0119 a0002c0001t0002g0059 a0002c0001t0019g0125 a0003c0004t0002g0052 a0003c0004t0002g0086 a0004c0003t0002g0083 a0013c0011t0001g0104 a0013c0011t0001g0124 a0014c0049t0002g0024 a0015c0056t0001g0057 a0015c0057t0001g0023	12	152	0.0790	-123	c.142 others(19): Show c.1425+7447_1425+7569del	MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	12/34		INFO_REALIGN_3_PRIME	chr13	TogoVar

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