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
AGFG1_chr2_227467156_227566217	227518413	GAATTCCG others(602): Show GAATTCCGGTTGTTCCACATTGTTACCAACACATGATGCAGTCACACTTT GTTTTCGGCTTTTCTAGTAGTATATGCATGTCTGTCTTGTGGAGTCTCAG TGTCTTTTTTTTTTTTTTTTTTTTTTTAAAGACAGAGTTTTGCTCTTGTC GCCCAGGCTGGAGTGCAATGACATGATCTTGGCTCACTGCAACCTCCCCT TCCTGGGTTCAAGCCATTCTTCTGACTCAGCCTCCTGAGTAGCTGGGATT ACAGGCATGCACCACTACGCCTGGCTAATTTTTTTGTATTTTTAGTAGAG ATGGGGTTTCACCATTTTGGCCAGTCTAGTCCCGAACTCCTGACCTCAGG TGATCCGCCTGCACCCGGCCTCAGTGTCATTTTAATTTGCATTTTATGCA TGACTAATGATAGTGGGCTGCTGATATCTTTGGTGAAGTGTTTGTTCAGA CCTTTTGCCCCCGCTTTAAACAAGTGTTGGCTGGGCATGGTGGCTCGCGC CTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCGCTTGAGCTC ATGAGTTCGAGACCAGCCTGGGCAACATGGTGAAACACCATCTCTACAAA AAATACAAAA	G G	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	326	0.0031	-609	c.262 others(16): Show c.262-1530_262-922del	AGFG1	ENSG00000173744.18	transcript	ENST00000310078.13	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
CLPTM1L_chr5_1312752_1350099	1326679	CCATCCAG others(602): Show CCATCCAGCTCCTCCTCTACGGGGACATTCCATCCAGCTCCTCCTCTACG GGGACATTTCATCCAGCTCCTCCTCTACAGGGACAATCCATCCAGCTCCT CCTCTACAGGGACATTTCATCCAGCTCCTCCCCTACAGGGACATTTCATC CAGCTCCTCCTCGACAGACACATTTCATCCAGCTCCTCCTCGACAGACAC ATTTCATCCAGCTCCTCCTCTACGGACACATTTCATCCAGCTCCTCCTCT ACGGACACATTTCATCCAGCTCCTCCTCTACGGACACATTCCATCCAGCT CCTCCTCCACAGGGACATTTCATCCAGCTCCTCCTCTACAGGGACATTCC ACCCAGCTCCTCCTCTACAGGGACATTCCACCCAGCTCCTCCTCGACAGG GACATTCCACCCAGCTCCTCCTCGACAGACACATTCCATCCAGCTCCTCC TCTACAGACACATTTCATCCAGCTCCTCCTCTACAGGCACATTCCATCCA GCTCCTCCTCTACAGACACATTCCATCCAGCTCCTCCTCTACAGACACAT TTCATCCAGCTCCTCCTCGACAGACACATTCCATCCAGCTCCTCCTCTAC AGGGACATTT	C C	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19079.hp1 NA19085.hp2 NA19067.hp1 NA19079.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0088 a0001c0001t0001g0119 a0001c0001t0001g0120	3	365	0.0082	-609	c.108 others(18): Show c.1081-1472_1081-864del	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	9/16			chr5	TogoVar
DHRSX_chrX_2214506_2505976	2280646	AGGGAGAG others(602): Show AGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGA AATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGA GGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAA GAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAA CGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAG ATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGA AGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAACGG GGAGAGAGAGGGAGGGCAAACGAGAGAGGGAGAGAGAAGGAAGAGGAGGA AATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGA GGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAA GAGAGAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAG AGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGG AGAGGGAACG	A A	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0018 a0001c0001t0011g0018	1	48	0.0208	-609	c.388 others(19): Show c.388+10247_388+10855del	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6			chrX	TogoVar
KIF13B_chr8_29062278_29268070	29066090	CATTTCAG others(602): Show CATTTCAGGGTCTGGGCAACGCTGAAAAAACCACACAGCCTTGGGCAAGC AAAAGACATCTCATTGAGTTGCAAGATAGTAGTAGCTTGAAAAATAAGAT CCACTCGAGGTGCTATATCAATACTATGTTCAGAGTCCTGCCTCATTCAG AGCAGGGCATCTCCTGCTGCCAAATTCCTGTCATTATTCGGCAGCGCTTG TCTCCAAGCATTCTTCTGCACTGAGGAATGTAAACCAGCCCTGCCCGGCT GTGCTGGCTGATGGACAGCTCTGGTCAGCCCTCAGAGTGGCTGAGCCCTC CACTTGCAAGTGTATTTCATATCCAAGGGCCAACTGATTCGCTGGCATAG CAAGAAAAGCTTTACATGGGGCCACAAGCACCTCTGCGTCCTTGTGGGAA TGTGCACTGGCTGCCGGCATCCCTCACTGGTACTGGACTGGGGCCTTGTG GCTGAGTGGGAATCTACTGGCGAATGGAAGGAAGCCAAGTCATCTTCCCG GGCTCGAAGGCTGGACCCAGCATCCTCGGTACCATTCTAGGCCCACGCTG GGCACAGCTGGGCGGGGTGGCTGCAGAATGCAGGCCTCATCAGAGAGCAG GGCCAGGCAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0115 a0001c0001t0023g0115	1	286	0.0035	-609	c.38 others(11): Show c.3805_*4413del	KIF13B	ENSG00000197892.13	transcript	ENST00000524189.6	protein_coding		1187		chr8	TogoVar
MPPED1_chr22_43407014_43512848	43496167	TGGTGATG others(602): Show TGGTGATGGTGGAGGTGGTGGTGGAGGTAGTGGTGGTGGAGGTAGTGGTG GTGGAGATGGTGGTGGTGGAGGTGGTGGTGGAGGTGGTGGTGGAGGTAGT GGTGGTGGAGATGGTGGTGGTGGAGGTGGTGGTGGAGGTAGTGGTGGCGG AGATGGTGGTGATGGAGGTGGTGATGGAGGTGGTGGTGGTGGAGGTGGTG GTGGTGGAGGTAGTGGTGGTGGAGATGGTGGTGGTGGAGGTGGTGATGGA GGTGGTGGTGGTGGAGGTGGTGGTGGTGGAGGTAGTGGTGGTGGAGATGG TGGTGGTGGTGGTGGAGATGGTGGTGGTGGAGGTAGTGGTGGTGGAGATG GTGGTGGAGATGGTGGTGGTGGAGATGGTGGTGGTGGAGATAGTGGTGGT GGAGATGGTGGTGGTGGTGGTGGAGATGGTGGTGGTGGAGGTAGTGGTGG TGGAGATGGTGGTGGAGATGGTGGTGGTGGAGGTGGTGGTGGTGGAGGTA GTGGTGGTGGAGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTAGTGGTGGTGGAAGTGGTGGTGGTGGAGGTAGTGGTGGTGGTGATGG TGGTGGTGGA	T T	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp1 HG01516.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0062 a0001c0001t0002g0023 a0001c0001t0002g0062	2	240	0.0083	-609	c.633 others(17): Show c.633-2063_633-1455del	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MYOM2_chr8_2040046_2150456	2085467	CGCTGTCG others(602): Show CGCTGTCGTGATCTCCGCGTGGCCCCTCACTGTTGTGATCTCCGCGTGGC CCCCCACTGTTGTGATCTCTGCGTGGCCCCACTGTCATGATCTCTGCGTG GCCCCACTGTTGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTGCGTG GCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTG CGTGGCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACTGTCGTGATCTC TTTGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGA TCTCTTTGTGGCCCCCTACTGTCGTGATCTCTGCGTGGCCCCCCACAGTC GTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTTTGTGGCCCCCCACTG TTGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCC ACTGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTTTGTGGCCCC CCACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGG CCCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTT GTGGCCCCCT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0068 a0002c0068	a0002c0068t0001 a0002c0068t0001	a0002c0068t0001g0124 a0002c0068t0001g0124	1	401	0.0025	-609	c.164 others(16): Show c.1644+78_1644+686del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36			chr8	TogoVar
MYOM2_chr8_2040046_2150456	2085468	GCTGTCGT others(602): Show GCTGTCGTGATCTCCGCGTGGCCCCTCACTGTTGTGATCTCCGCGTGGCC CCCCACTGTTGTGATCTCTGCGTGGCCCCACTGTCATGATCTCTGCGTGG CCCCACTGTTGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTGCGTGG CCCCCCACAGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGC GTGGCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACTGTCGTGATCTCT TTGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGAT CTCTTTGTGGCCCCCTACTGTCGTGATCTCTGCGTGGCCCCCCACAGTCG TGATCTCTGCGTGGCCCCACTGTCGTGATCTCTTTGTGGCCCCCCACTGT TGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCCA CTGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTTTGTGGCCCCC CACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGC CCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTG TGGCCCCCTA	G G	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0034 a0034	a0034c0029 a0034c0029	a0034c0029t0001 a0034c0029t0001	a0034c0029t0001g0174 a0034c0029t0001g0174	1	393	0.0025	-609	c.164 others(16): Show c.1644+92_1644+700del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2085511	CGTGGCCC others(602): Show CGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCACTGTCATGATCTC TGCGTGGCCCCACTGTTGTGATCTCTGCGTGGCCCCACTGTCGTGATCTC TGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGA TCTCTGCGTGGCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACTGTCGT GATCTCTTTGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACAG TCGTGATCTCTTTGTGGCCCCCTACTGTCGTGATCTCTGCGTGGCCCCCC ACAGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTTTGTGGCCCC CCACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGG CCCCCCACTGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTTTGT GGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCT TTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACAGTCGTGAT CTCTTTGTGGCCCCCTACTGTCGTGATCTCTGCGTGGCCCCCCACTGTTG TGATCTCTTT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG04228.hp1 HG02257.hp2 HG04228.hp1	a0001 a0012 a0001 a0012	a0001c0065 a0012c0030 a0001c0065 a0012c0030	a0001c0065t0001 a0012c0030t0002 a0001c0065t0001 a0012c0030t0002	a0001c0065t0001g0125 a0012c0030t0002g0301 a0001c0065t0001g0125 a0012c0030t0002g0301	2	373	0.0054	-609	c.164 others(17): Show c.1644+137_1644+745del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
PXDN_chr2_1626887_1749515	1703650	GGGGGGCA others(602): Show GGGGGGCAACTCCAGGTGAAGGGGGGGACAGCTCCAGGTGAAGCGGGGGA CAGCTCCAGGTGAAGGGGGGGCAACTCCAGGTGAAGGGGGGGGCAACTCC AGGTGAAGGGGGGCAACTCCAGGTGAAGGGAGGGCAACTCCAGGTGAAGG GGGGCAACTCCAGGTGAAGGGAGGGCAACTCCAGGTGAAGGGGGGACAGC TCCAGGTGAAGGGGGGCAACTCCAGGTGAAGGGGGGGCAACTCCAGGTGA AGGAGGGCAACTCCAGGTGAAGGTGGGGGACAACTCCAGGTGAAGGGAGG GCAACTCCAGGTGAAGGTAGGGGACAACTCCAGGTGAAGGGGGGGCAACT CCAGGTGAAGGTAGGGGACAACTCCAGGTGAAGGGGGGCAACTCCAGGTG AAGGGAGGGCAACTCCAGGTGAAGGGGGGCAACTCCAGGTGAAGGGAGGG CAACTCCAGGTGAAGGGGGGACAGCTCCAGGTGAAGGGGGGCAACTCCAG GTGAAGGGGGGGCAACTCCAGGTGAAGGAGGGCAACTCCAGGTGAAGGTG GGGGACAACTCCAGGTGAAGGGAGGGCAACTCCAGGTGAAGGGGGGCAAC TCCAGGTGAA	G G	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0027 a0001c0003t0002g0027	1	317	0.0032	-609	c.201 others(19): Show c.201-11125_201-10517del	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
ATP10A_chr15_25673712_25868327	25758253	ACTCATTC others(601): Show ACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCC ACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACC TGATCCACCCTAACTCATTCCAATCACCTGCTCCACCCTAACTCATTCCG ACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTC ATTCCTATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCC TAACTCATTCCTATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCT CCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCA CCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTC CGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAAC TCATTCCGATCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCCTA ACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCC ACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACC TGCTCCACC	A A	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0071 a0004c0004t0001g0071	1	280	0.0036	-608	c.654 others(19): Show c.654+22158_655-22113del	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
C7orf50_chr7_992006_1143247	1128545	CCACCGTC others(601): Show CCACCGTCACCCGGGCTGGAGTGCAGTGGCGCGATCTCGGCTCATCCCAC CGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCTCACCGTC ACCCGGGCTGGAGTGCAGTGGCACAATCTCGGCTCATCCCACCGTCACCC GGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCCCACCCTGTCACCCGG GCTGGAGTGCAGTGGCGCCATCTCGGCTCATCGCACCCTGTCACCCGGGC TGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCCTGTCACCCGGGCTG GAGTGCAGTGGCACGATCTCGGCTCATCCCACCATCACCCGGGCTGGAGT GCAGTGGCGCCATCTCGGCTCATCCCACCCTGTCACCCGGGCTGGAGTGC AGTGGCGCCATCTCGGCTCATCCCACCCTGTCACCCGGGCTGGAGTGCAG TGGCACGATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGC GCCATCTCGGCTCATCCCACCATCACCCGGGCTGGAGTGCAGTGGCGCCA TCTCGGCTCATCCCACCGTCACCTGGGCTGGAGTGCAGTGGCGCGATCTC AGCTCATCT	C C	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0182 a0001c0001t0004g0182	1	309	0.0032	-608	c.-1- others(15): Show c.-1-1767_-1-1160del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
GALNT9_chr12_132191372_132334589	132304854	CGGGCACA others(601): Show CGGGCACAGAATCGCCCAGACACACCCTCACCGGGGCACACCCTCGCCCG GACACGCCCTCACCGGGGCACACCCTCACCCAGACACGCCCTCACCCAGA CACGCCCTCACCCGGGCACACCCTCACCCGGGCACACCCTCACCCGGGCA CATCCTCACCGGGGCACACCCTCACCCAGACACACCCTCACCCGGGCACA GAATCGCCCAGACACACCCTCACCTGGGCACACCCTCACCCGGGCACAGC CTCACCCAGACACGCCCTCACCCGGGCACAGCCTCGCCCGGGCACACCCT CGCCTGGGCACAGCCTCGCCCGGGCACACGCTCACCCAGACACACCCTTG CCCGGGCACACCCTCGCCCGGACACACCCTCACCCGGGCACAGAATCGCC CAGACACACCCTCACCGGGGCACACCCTCGCCCGGACACGCCCTCACCGG GGCACACCCTCACCCAGACACGCCCTCACCCAGACACGCCCTCACCCGGG CACACCCTCACCCGGGCACACCCTCACCCGGGCACATCCTCACCGGGGCA CACCCTCACCCGGGCACACCCTCACCCGGGCACAGAATCGCCCAGACACA GCCTGACCT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0012 a0001c0025t0012	a0001c0025t0012g0048 a0001c0025t0012g0048	1	181	0.0055	-608	c.239 others(19): Show c.239-19032_239-18425del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10			chr12	TogoVar
IL3RA_chrX_1331785_1387689	1365778	AGCGGGGT others(601): Show AGCGGGGTGAGCGGGGTGAGCCGGGTGCCCCGGGTGAGCGGGGTGCGCGG GGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGAGCGGGGTGCGCGGGGTGA GCCGGGTGCGCGGGGTGAGCCGGGTGCGCGGGGTGAGCCGGGTGAGCGGG GTGAGCGGGGTGCGGGGTGCGCGGTGCGCGGGGTGAGCGGGGTGCGCGGG GTGAGCCGGGTGCGCGGGGTGAGCGGGGTGAGCCGGGTGCCCCGGGTGAG CGGGGTGCGCGGGGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGCGCGGGG TGAGCGGGGTGCGCGGGGTGCGCGGCGTGAGCCGGGTGCGCGGGGTGCGC GGGGTGAGCGGGGTGCGCGGGGTGCGCGGGGTGCGCGGGGTGAGCGGGGT GCGCGGGGTGCGCGGCGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGCGCG GGGTGAGCGGGGTGCGCGGGGTGAGCCGGGTGCGCGGGGTGAGCCGGGTG AGCCGGGTGCGCGGGGTGAGCGGGGTGCGCGGGGTGAGCCGGGTGAGCCG GGTGCGCGGGGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGCGCGGGGTGA GCCGGGTGC	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0088 a0001c0001t0006g0088	1	108	0.0093	-608	c.874 others(16): Show c.874+544_874+1151del	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
LOC128462377_chr16_89312046_89423292	89400146	CGGTCATC others(601): Show CGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGACGGTCATCTGCT GCCCCAGGCTTCCCTGCGCTGGGGGACGGTCATCTGCTGCCCCAGGCTTC CCTGCGCTGGGGGACGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGG GACGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGACGGTCATCTG CTGCCCCAGGCTTCCCTGCGCTGGGGGACGGTCATCTGCTGCCCCAGGCT TCCCTGCGCTGGGGGACGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGG GGGACGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGCCGGTCATC TGCTGCCCCAGGCTTCCCTGCGCTGGGGGATGGTCATCTGCTGCCCCAGG CTTCCCTGCGCTGGGGGCCGGTCATCTGCTGCCCCAGGCTTCCCTGCGCT GGGGGCCGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGATGGTCA TCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGCCGGTCATCTGCTGCCCCA GGCTTCCCTGCGCTGGGGGCCGGTCATCTGCTGCCCCAGGCTTCCCTGCG CTGGGGGAT	C C	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	363	0.0028	-608	c.9+1 others(15): Show c.9+17530_9+18137del	LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding	1/1			chr16	TogoVar
LUC7L_chr16_183990_234449	186560	GGGGAACA others(601): Show GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAAC AGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGA ACAGCGACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01123.hp1 HG01074.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0099 a0001c0001t0001g0100	2	334	0.0060	-608	c.20 others(11): Show c.2030_*2637del	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2429		chr16	TogoVar
NOC4L_chr12_132139457_132157468	132149488	CACACCAC others(601): Show CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCG GTGAGTGCGGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGT GCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG CTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTA CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCATACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAA TCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCG	C C	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0016 a0016	a0016c0019 a0016c0019	a0016c0019t0001 a0016c0019t0001	a0016c0019t0001g0076 a0016c0019t0001g0076	1	290	0.0034	-608	c.901 others(15): Show c.901+594_902-885del	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14			chr12	TogoVar
PCBP3_chr21_45638725_45947450	45931926	TGTCCTGA others(601): Show TGTCCTGAGATGAACGAACACCCGGGCCATGCTGTCCTGAGATGAACGAA CACCTGGGCCATGCTGTCCCGAGATGAATGAACATGTCGGCCGTGCCGTC CTGAGATGAATGAACACAACGGTCATGCTGTCCTGAGATGAATGAACACC TGGGCCATGCCATCCTGAAATGAATGAACACATTGGCCATGCTGTCCTGA GGTGGATGAACACCTAGTCCATGCCATCCTGAGATGAATGAACACATCAG CCATGCCGTCCCGAGATGAATGAACACATCGGCCATGCTGTCCTGAGATG AACGAACACCTGGGCCTTGCCGTCCTGAGATGGATGGACACCTGGTCCAT GCCGTCATGAGATGAATAAACACATCAGCCAAGCTATCCTGAGATGAATG AACACATCAGCCATGCTGTCCTGAGATGAGTGAACACCTGGTCCATGCCA TCCTGAGATGAATGAACACATCGGCCATGCCGTCCTGAGATGAATGAACA CATCGGCCATGCTGTCCTGAGATGAACAAACACCTGGGCCATGCTGTCCT GAGATGAACGAACACCTGGGCCATGCCGTCCTGAGATGAACGAACACGTC GGCCATGCC	T T	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	289	0.0035	-608	c.856 others(17): Show c.856+1165_856+1772del	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
RAPGEF1_chr9_131571775_131745076	131586613	CACACACA others(601): Show CACACACACACACACACCTGCAGAGACTCCGTCTCAAACACACACACACA CACACACCCCTGCAGAGTGAGACTCCGTCTCAAACACACACACACACCTG CAGAGCGAGACTCCGTCTCACACACACACCTGCAGAGCGAGACTCCGTCT CACACACACACCTGCAGAGCGAGACTCCGTCAAACACACACACACACACA CACACCTGCAGAGCGAGACTCCGTCTCAAACACACACACACACACACACA CACCTGCAGAGCGAGACTCCGTCTCAAACACACACACACACCTGCAGAGC GAGACTCCGTCTCAAACACACACACACACACCTGCAGAGCGAGACTCCGT CTCAAACACACACACACACACACACCTGCAGAGTGAGACTCCGTCTCAAA CACACACACACACACACACACACACACCCCTGCAGAGCGAGACTCCGTCT CAAACACACACACACACACACCTGCAGAGCGAGACTCCGTCTTACACACA CACCTGCAGAGCGAGACTCCGTCTCAAACACACACACACACACACACCTG CAGAGCGAGACTCCGTCTCAAACACACACACACACCTGCAGAGCGAGACT CCGTCTCAA	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0005 a0004c0010t0005	a0004c0010t0005g0025 a0004c0010t0005g0025	1	366	0.0027	-608	c.323 others(18): Show c.3233+515_3233+1122del	RAPGEF1	ENSG00000107263.19	transcript	ENST00000683357.1	protein_coding	22/26			chr9	TogoVar
DOCK8_chr9_209865_470255	320586	CACTCACG others(600): Show CACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAAA ACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGACCAGAGATGG CTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTG ACCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCC CAGGTTCTGTGACCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCA CGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAAAACCTGA CCGAACACTCACGGAAAAAGCCCAGGTTCTGTGACCAGAGATGGCTGGGC TCAAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGACCAGA GATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTT CTGTGACCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAA AAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAAAACCTGACCGAAC ACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAAAA CCTGACCG	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01081.hp2 HG01099.hp2 others(12): Show HG00738.hp2 HG01081.hp2 HG01099.hp2 HG01257.hp1 HG01258.hp1 HG01433.hp2 HG01515.hp2 HG01975.hp2 HG01981.hp2 HG02683.hp1 HG03490.hp2 HG03710.hp2 HG04115.hp2 HG04199.hp1 HG04204.hp1	a0001 a0004 a0006 others(3): Show a0001 a0004 a0006 a0017 a0021 a0051	a0001c0014 a0004c0040 a0004c0041 others(9): Show a0001c0014 a0004c0040 a0004c0041 a0004c0042 a0006c0011 a0006c0023 a0006c0024 a0006c0026 a0006c0027 a0017c0124 a0021c0125 a0051c0085	a0001c0014t0001 a0004c0040t0001 a0004c0041t0002 others(9): Show a0001c0014t0001 a0004c0040t0001 a0004c0041t0002 a0004c0042t0001 a0006c0011t0001 a0006c0023t0001 a0006c0024t0001 a0006c0026t0002 a0006c0027t0001 a0017c0124t0001 a0021c0125t0002 a0051c0085t0003	a0001c0014t0001g0243 a0001c0014t0001g0244 a0004c0040t0001g0246 others(12): Show a0001c0014t0001g0243 a0001c0014t0001g0244 a0004c0040t0001g0246 a0004c0041t0002g0197 a0004c0042t0001g0245 a0006c0011t0001g0183 a0006c0011t0001g0185 a0006c0011t0001g0187 a0006c0023t0001g0211 a0006c0024t0001g0186 a0006c0026t0002g0193 a0006c0027t0001g0210 a0017c0124t0001g0205 a0021c0125t0002g0123 a0051c0085t0003g0198	15	242	0.0620	-607	c.827 others(17): Show c.827+3460_827+4066del	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	7/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
FBXL20_chr17_39247663_39406626	39291894	TTCCAAAG others(600): Show TTCCAAAGTATGTTATTTAATTTTCTAATCTTCCAGGTATCTGTTATTAA TTTCTACTTTAATTTTGTTGAGGTCACAGAACATACCCAATATGATTTTA ATCCTTCCAAATGTATTAAAATTTGTTTTATGGCTCATTATTTGGTTTGT CCTATTGAATATTCCAAATGTACTTGAAGAGAATGTTTATTCTGATGCTT TTTGGTGTAGCAATCTATAAATGTCAATTATATCAAGTTCATTGATAGTG TTGCTGAAGTCCTTAATAGCTTTACTGCTTTTTGGCATACTTGTTTTATA AGCCAGGGGTACTATTTAATACCTTTTTTTCATCTAATTTTTTTCCTTAA ATTTACGCCATCTGATATTACTGTCCACTCCAACTTTCCCAACTAGTATT TATAATAGTATGTATTTTCCCATTCTTTTAGTTTCATTTTTTTAAATTTT TGCACATATTTGTAATTGTTATTTAAAATTTCTTATGTACTTATTTACTT ACTTTTTGAAATGTGGTCTTGATAGGTTGCCCAGGCTTGAGTGCAGTGGC TATTAACAGGCATGATCACAGTGCACTGCAGTCTCTAACTCCTGGTCTCA AGTGATCC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp2 HG02257.hp1 others(12): Show HG02055.hp1 HG02145.hp2 HG02257.hp1 HG02451.hp1 HG02738.hp1 HG02809.hp1 HG02970.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03486.hp1 NA19030.hp1 NA19240.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0015 a0001c0001t0021 others(2): Show a0001c0001t0005 a0001c0001t0015 a0001c0001t0021 a0001c0001t0062 a0001c0001t0067	a0001c0001t0005g0216 a0001c0001t0005g0220 a0001c0001t0005g0223 others(12): Show a0001c0001t0005g0216 a0001c0001t0005g0220 a0001c0001t0005g0223 a0001c0001t0005g0224 a0001c0001t0005g0226 a0001c0001t0005g0228 a0001c0001t0005g0229 a0001c0001t0005g0230 a0001c0001t0015g0217 a0001c0001t0015g0218 a0001c0001t0015g0219 a0001c0001t0021g0221 a0001c0001t0021g0222 a0001c0001t0062g0227 a0001c0001t0067g0225	15	228	0.0658	-607	c.398 others(17): Show c.398+4626_398+5232del	FBXL20	ENSG00000108306.13	transcript	ENST00000264658.11	protein_coding	6/14			chr17	TogoVar
JAM3_chr11_134064072_134157001	134092924	TCTTATTC others(600): Show TCTTATTCATCATGTTCCATCTTACATGTCACTCCCTGAGAGAAGCTTCT CCTCAGCCCTCCTTATTCATCATGTTCCACCTTACATGTCACTTCCTGAG GGAAGCTTCTCCTGAACCCTCCTTATTCATCATGTTCCACCTTACATCTT ATTCGTCATGTTCCATCTTACATGTCACTTCCTGAGGGAAGCTTCTCCTG AGCCCTCTTTATTCATCATGTTCTATCTTACATGTCACTTCCTGAGGGAA GCTTCTCCTGAACCCTCCTTATTCATCATGTTCCACCTTACATCTTATTC ATCATGTTCCGTCTTACATGTCACTTCCTGAGGGAAGCTTCTCCTGAAAC CTCCTTATTCGTCATGTTCCACCTTACATCTTATTCATCTTGTTCCATCT TACATGTCACTCCCTGAGGGAAGCTTCTCCTGAGCCCTCCTTATTCATGT TCCACCTTACATCTTATTCATCATGTTCCATCTTACATGTCACTCCCTGA GGGAAGCTTCTCCTGAAACCTCCTTATTCGTCATGTTCCACCTTACATCT TATTCATCATGTTCCATCTTACATGTCACTCCCTGAGGGAAGCTTCTCCT GAGCCCTC	T T	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0315 a0001c0001t0001g0315	1	388	0.0026	-607	c.76+ others(17): Show c.76+23784_76+24390del	JAM3	ENSG00000166086.13	transcript	ENST00000299106.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
STRC_chr15_43594563_43623800	43622146	GCCACAAT others(600): Show GCCACAATGCTCAGCCAGATGCCTCCCTTTGTAAAGTACAATTATTTTTC TCTTTTTTTGGTTTGGCTTTGGTAACTGAAATATTTATTGCTTACTAGAT ATCTAGGTGTTTCTCACATTTCCCAGATCTCTTGCAGTTAGCTGGGATCA GGTGATTAGTTCTGTTCAATGGACTGTGGTTGACCAAAGAATTTAAGAGC TAGCAAATGAGCCTCCAACAATCTCTTCCCTGTTGAGGCAACCTAGAAAC CACATGTTGAGATGGCAGTGTCACAAGGTCAAAATAGCCCGAGGCTCCAA ATTACCACAGCATTTACAGTCAGTCTTTGTCATTTGTGAGTTCTGTATTT GTGGATTTGCCTAGTCACTAAATGTTTGTAACCCAAAATCAATACTTACA GTGCTATTGAGGTCATTCACAGACTTGTATTGAGAGGTGACAAGTTGGAG TCACCTGATATACACGTTCCCAGCTGAGGTGGAACAAGGCAGTGCTCTGC CTTCTTGTTGCAGCTCTCATGGTGTAAATATTAGTGTCTTTTTTTTTTTT TTTTGAGACGGAGTCTTGCTGTGTCACCAGACTGGAGTGCAGTGGCGATC TCAGCTCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 HG03688.hp2 HG04115.hp2 HG02738.hp2 HG03688.hp2 HG04115.hp2	a0002 a0002	a0002c0002 a0002c0015 a0002c0002 a0002c0015	a0002c0002t0001 a0002c0015t0001 a0002c0002t0001 a0002c0015t0001	a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0015t0001g0070 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0015t0001g0070	3	371	0.0081	-607	c.-40 others(11): Show c.-4031_-3425del	STRC	ENSG00000242866.10	transcript	ENST00000450892.7	protein_coding		3347		chr15	TogoVar
TRIM39_chr6_30321927_30348729	30334322	CACTATTT others(600): Show CACTATTTGTTGTAGTGGAGATGCAGAAGAGAGGATGTGCTGATAATTCT CAGAAAGTGTTATGGCTGGTGTTTGAGTCCTATATTATCAAATTTCAGGA ATGTTAGAGGCTTAAGTCTGTGTGCTGGCTTAAAGAAAGCATGTTTCAAA TTTCAAGAAACTAAATTACTAACAAACTTCTGTAACCTGTTCCTGGGGTA GGAATTGCCAGTTCTCTGAAGTGACTTGAAACAATTTAACAAGTTCAGCC CTGAAATCTACATATGTATATTTTATAATAACCCATATAACTCTTACTGA TTCTTACACTTTCCCAGTTCTCTGGTTTTTATCTGGTGCATGTGTTGCAA TATGCAAAGGATGACAATCTTATTTTTAACTTTTTATTATTTGTACTTTC CTTTTTGTTTCGTTGTTTTTTGTTTGCTTGTTTTGAGACAGAATCTCACT CACCCAGGCTGGAGGGCAGTAGTGATCACAGCACACTAACTCAAACTCCA GTGTTCAGGCCATCCATCCTCTTGATTCTTTTTGAGTAGCTAGGACTGCA GATGTGCATTGCCATGCCCGACTAATTTTTTTTTCTTTTTAGTTGAAACA AGGTCTCA	C C	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	460	0.0022	-607	c.550 others(16): Show c.550-1422_550-816del	TRIM39	ENSG00000204599.16	transcript	ENST00000396551.9	protein_coding	4/7			chr6	TogoVar
BRSK2_chr11_1384934_1467689	1394119	CTGGAGAT others(599): Show CTGGAGATGGGTCCTGGAGATGGGCCATGGAGATGGGCCATGGAGATGGG TCCTGGAGATGGGCCCCTGGAGATGGGCCATGGAGATGGGTCCTGGAGAT GGGCCCCTGGAGATGGGCCATGGAGATGGGTCCTGGAGATGGGTCCTGGA GATGGGTCCTGGAGATGGGCCATGGAGATGGGCCCCTGGAGATGGGCCCC TGGAGATGGGCCATGGAGATGGGTCCTGGAGATGGGTCCTGGAGATGGGC CATGGAGATGGGCCATGGAGATGGGTCCTGGAGATGGGCCCCTGGAGATG GGCCATGGAGATGGGTCCTGGAGATGGGTCCTGGAGATGGGCCATGGAGA TGGGTCCTGGAGATGGGCCATGGAGATGGGTCCTGGAGATGGGTCCTGGA GATGGGCCCCTGGAGATGGGCCATGGAGATGGGTCCTGGAGATGGGTCCT GGAGATGGGCCATGGAGATGGGTCCTGGAGATGGGCCATGGAGATGGGTC CTGGAGATGGGTCCTGGAGATGGGCCATGGAGATGGGTCCTGGAGATGGG CCCCTGGAGATGGGTCCTGGAGATGGGTCCTGGAGATGGGTCCCTGGAGA TGGGCCA	C C	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0016 a0002c0002t0016	a0002c0002t0016g0254 a0002c0002t0016g0254	1	358	0.0028	-606	c.91+ others(15): Show c.91+3768_91+4373del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
ELL_chr19_18437663_18527070	18455226	ATCACGCC others(599): Show ATCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATG AGGTCAGGAGTTCCAGACCAGCCTGGCCAAGATGGTGAAACCCCATCTCT ACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCGGGCACCTGTAATCCC AGCTACTCGGGAAGCTGAGGCACAGAATTGCTTGAACCCAGGAGGCGGAG GTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGCGTGACAGAG CAAGACTCTGTCTCAGGAAAAAAAAAAAAAAAAGAACATGCTCCTACGAA AACGCAATGGGGAAGACTCTTAGAAACTAGAAATAATAGGCCTTGCATGG TGGCTCACATGTGTAATCCCAGTGCTTTGGGTGGCTGAGGCAGGCAGATC ACTTGAGGTCAGGAGTTCAAGACCAGTCTGGAGAACATGGTGAAACCCCA TCTCTTTGCCTAGGCAACAGAGCAACACTCTGTCTCAAGAAAAAAAAAGA AACTACAAATAATAGTAAATTAAGAGACAGGATGAGAAATGTCAAAGAAG TCTCCTAAAAGGAGAATAAAAAAGAGCAAGAGATGAAAACCAGCTGGGCG CGGTGGC	A A	intron_variant intron_variant	MODIFIER	HG01169.hp2 NA21309.hp2 HG01169.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0042 a0001c0001t0002g0026 a0001c0001t0002g0042	2	242	0.0083	-606	c.869 others(17): Show c.869+2373_869+2978del	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	6/11			chr19	TogoVar
FRMD8_chr11_65381637_65418525	65388193	ATGATCTT others(599): Show ATGATCTTCATTTGATAGGGAGGAAACTGGGCCCTAGGGAGGTTAAGTCC CAGGCAGGCTGTGGAAGCTCTCCAGGTGATTACATACTGCAGCTTCTGGT GCCTCAGTTCTTGCCTGAGAAGTAGATCTGAACCTGAGCCTCCTCGAAGT GATTTTGTGATCTCTGAGAGTAGCTGCTGGAGCATAACAGACTGGGGGTC CGAGGAGCACCTTCTCTTGTGTAGATGAGAAACCGTGCCCTTCCCTTCCA CACACTCTTGGAGGGAGGAGTATTAGCTCTACTTTTACAGATGAGGCAAC TGACAACTTAAATTGACTCCCTGAAGTTGGCCAGCGACCAGGCAAGGATG GGAACCCGAGTATGTCGGCCCCAAACTCCAGTGTTCCTTCACCATGCCTG CAGTCTCAGGGATGGGGATTTGAATCTGGTTGCTCTTCCAGGTGTCTCCA TTTGGCTCTGGAACCCACAAGTTGTCACAAGGGAACTCTCAGCTATTTGG GCTGTTCTTCCCTAGCCTGCTTCGTATTGACTCCTGAGGCTTAAAGAGTC CTCAGACTTAAAGAGTCCCAAGGAAGCTGAGACCTGGAACTTGCTTTAAC CTGGGTG	A A	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19077.hp2 NA19074.hp2 NA19077.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0044 a0001c0003t0001g0044	2	364	0.0055	-606	c.85+ others(14): Show c.85+1073_86-562del	FRMD8	ENSG00000126391.14	transcript	ENST00000317568.10	protein_coding	2/10			chr11	TogoVar
KNDC1_chr10_133155219_133231412	133222538	TGTGTGTG others(599): Show TGTGTGTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCAGTGTGTGTGTG TGTGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTCTGTGTGTGTG TGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGTGTGTGTGTGAG AGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGTGCATGAGAGCCCATC CAGGCATGCTCTTCCCGGCGTGTGTGCGTGTGCGTGAGAGCCCATCCAGG CATGCTCTTCCCAGTGTGTGTGTGTGTGAGAGCCCATCCAGGCATGCTCT TCCCGGCGTGTGTGTGTGTGTGTGAGAGCCCATCCAGCCATGCTCTTCCC AGTGTGTGTGTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTG TGTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCAGTGTGTGTGTGTGTG AGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGTGTGTGTGAGAGCC CATCCAGGCATGCTCTTCCCGGCGTGTGTGTGTGTGAGAGCCCATCCAGG CATGCTCTTCCCGGCGTGTGTGTGTGTGAGAGCCCATCCAGGCATGCTCT TCCCGGC	T T	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0012 a0012	a0012c0023 a0012c0023	a0012c0023t0002 a0012c0023t0002	a0012c0023t0002g0303 a0012c0023t0002g0303	1	330	0.0030	-606	c.501 others(19): Show c.5019-2109_5019-1504del	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	29/29		INFO_REALIGN_3_PRIME	chr10	TogoVar
MLPH_chr2_237482251_237560322	237544536	GTTGAGTT others(599): Show GTTGAGTTGGGGGACACTTTAGTGTTGGGGGGGACATTGTTTATTGGGGG CATAGTGGTGTGTGGTTGTCAGTGTGTGGTGGTGGTCAGTGGTGATTGGG CACTGTAGTGAGTGGGGGGACAGTGGTGAGTGGGAGGACAGTGGTGAGTG GGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGCACGGTGGTGAGTG GGGGGACAGTGGTGAGTGGGCACGGTGGTGAGTGGAGGGGACAGTGGTGA GTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGGACAGTGTG TGGGGGGACAGTGGTGAGTTGGGGGGACAGTGGTGAGTGGGGACAGTGGT GAGTGGGGACAGTAATGAGTCGGGGGACAGTGGTGAGTGGGCACAGTAGT GAGTGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTG GTGAATGGGGACAGTAGTGAGTGGGGGACCGTGGTGAGTGGGGGCACAGT GGTGAGTGGGGACAGTGGGTGGAGGGGGCACTATTGGTAGGGGGGACAAT TATTGGGGGGGGGCACTAATTGTGAGGGGGGACCAGTGTTGAGTGGGGGA ATAGTTA	G G	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0136 a0001c0001t0002g0136	1	281	0.0036	-606	c.153 others(19): Show c.1539+1879_1540-1463del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
RAPGEF1_chr9_131571775_131745076	131586499	CACACCTG others(599): Show CACACCTGCAGAGCGAGACTCCGTCAAACACACACACACACACACACCTG CAGAGCGAGACTCCGTCTCAAACACACACACACACACCTGCAGAGCGAGA CTCCGTCTCAAACACACACACACACACACACCTGCAGAGACTCCGTCTCA AACACACACACACACACACACCCCTGCAGAGTGAGACTCCGTCTCAAACA CACACACACACCTGCAGAGCGAGACTCCGTCTCACACACACACCTGCAGA GCGAGACTCCGTCTCACACACACACCTGCAGAGCGAGACTCCGTCAAACA CACACACACACACACACACCTGCAGAGCGAGACTCCGTCTCAAACACACA CACACACACACACACACCTGCAGAGCGAGACTCCGTCTCAAACACACACA CACACCTGCAGAGCGAGACTCCGTCTCAAACACACACACACACACCTGCA GAGCGAGACTCCGTCTCAAACACACACACACACACACACCTGCAGAGTGA GACTCCGTCTCAAACACACACACACACACACACACACACACCCCTGCAGA GCGAGACTCCGTCTCAAACACACACACACACACACCTGCAGAGCGAGACT CCGTCTT	C C	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0024 a0001c0001t0008g0024	1	366	0.0027	-606	c.323 others(18): Show c.3233+631_3233+1236del	RAPGEF1	ENSG00000107263.19	transcript	ENST00000683357.1	protein_coding	22/26			chr9	TogoVar
TCP11_chr6_35113075_35146339	35136481	TTTCTCTT others(599): Show TTTCTCTTAAAAAGTAAAATCGTATTTATAGCAGCAAAGAAACAATAATT TGAAATTTGCAAAAATAAACATTCATCTAAGTATTAAGGTTCCACGTTCC TTTTCCTGTCTCTGATGCTATACATGATGAAAGCTAAACTCTCCCTACAG ATAATACTCAGATGTTACTGAATAGTGCCAAAGTCATTTGGTCTTCTAAA GCGGTAGTTCTCAGATTTTAGGAATTCACAGACTAATAAAATTTCTGAAA ATATTTTAAGCAACTGAAAACAACTTGCCAACTTTTTGTTTTGCCTAGTA TGGACAGTGAAACAAGCAAATAAAAATCATCTACCACCACCAAAATCATC ATTTCATCAAAGAAAAGATAGCTTAACCTCTGAAAAAAACCAGAAAGGAA ATATTGTCAAAATAAACAGCAGTCCCTTAAATGGAATTAACTTTAGGAAA ACTCATTACAATATCTTTATGATTTCATTTCACTAAATAGTGCTAAGAAT TTTGTCACAGACCAGCATGGGTATTTGGCAACCACTGTTCTAAGTTTTTA ACAAATAGCTAGTTTATAAAAAAAAGCAGGAAGTGAAACAGATGAAAAAC TTTTCTC	T T	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03195.hp1 HG03225.hp1 others(2): Show HG02809.hp2 HG03195.hp1 HG03225.hp1 HG03453.hp2 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0052 a0002c0002t0003g0053 a0002c0002t0003g0054 others(2): Show a0002c0002t0003g0052 a0002c0002t0003g0053 a0002c0002t0003g0054 a0002c0002t0003g0055 a0002c0002t0003g0056	5	410	0.0122	-606	c.125 others(15): Show c.125-869_125-264del	TCP11	ENSG00000124678.20	transcript	ENST00000311875.11	protein_coding	2/9			chr6	TogoVar
TTC7B_chr14_90519564_90821430	90525388	GAGAAGTC others(599): Show GAGAAGTCTTTGTATTTGAGGGGACTGCAGGGAGGCCGGGCTGAGTCAGC GCCACTGCCGCTGCTGCGTGTCCCTTTCTGAGGCCTCGGACCGCACCGCT TTCGCCCTGCGGCCCGGCTCGGTAGCCTGATCAGTCGCGTTCCCGGCTGC GTCTCCGGTCACCGAACGGGACGGCGGGATGGCGGGGTCGATCTGTGCAG ACGCTGCTAGTGGTTCCGCAGTCGTCGCTGGGTCAGCTGTTTCGAGCGGC GGATCTGCTCCTATAGATGTCCAGATTGTTAGACGGTGGGCTTCATCCGT CCTACCTCGCCCAACCCAGTTGACTAATATTTGGGTCGGTGGAGCCCGAA TAATACAATAAGAATAAAACCCAACGACAAAGGCCCTCTCTAACCCGAGT ACACCGGCCTCTGGCTTTGTGACAAGCACGTCACTGTTAGGCTAAGCAGA GACTTTGGAACCCCGGTTCTAAAGCTCTCAGAGTGGAAGAGTACCAGGAC ATGGGGGTGGGGGTTGGGGCAAAGCTTTGCTCCCTTAGAATAATACCAAC GTACAGAGTTGCGATTGGTTAAAAAATAAAAAAAAATAAAAAAAATAAAA AAAAAAA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01106.hp2 HG01261.hp1 HG01934.hp1 others(16): Show HG01106.hp2 HG01261.hp1 HG01934.hp1 HG02015.hp1 HG02056.hp1 HG02071.hp1 HG02135.hp1 HG02486.hp2 HG03195.hp1 HG04228.hp2 HG06807.hp2 NA18747.hp2 NA18960.hp1 NA18967.hp2 NA18970.hp1 NA18984.hp1 NA18998.hp2 NA19005.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008	a0001c0001t0030 a0001c0001t0101 a0001c0001t0106 others(15): Show a0001c0001t0030 a0001c0001t0101 a0001c0001t0106 a0001c0002t0028 a0001c0002t0039 a0001c0002t0097 a0001c0003t0014 a0001c0003t0029 a0001c0003t0030 a0001c0003t0065 a0001c0003t0100 a0001c0004t0014 a0001c0004t0103 a0001c0004t0114 a0001c0005t0028 a0001c0005t0029 a0001c0005t0099 a0001c0008t0102	a0001c0001t0030g0117 a0001c0001t0101g0028 a0001c0001t0106g0175 others(16): Show a0001c0001t0030g0117 a0001c0001t0101g0028 a0001c0001t0106g0175 a0001c0002t0028g0045 a0001c0002t0039g0010 a0001c0002t0097g0120 a0001c0003t0014g0169 a0001c0003t0014g0189 a0001c0003t0029g0132 a0001c0003t0030g0195 a0001c0003t0065g0020 a0001c0003t0100g0092 a0001c0004t0014g0131 a0001c0004t0103g0124 a0001c0004t0114g0005 a0001c0005t0028g0145 a0001c0005t0029g0093 a0001c0005t0099g0133 a0001c0008t0102g0014	19	198	0.0960	-606	c.15 others(13): Show c.15374_*15979del	TTC7B	ENSG00000165914.15	transcript	ENST00000328459.11	protein_coding	20/20	15374		chr14	TogoVar
CDC34_chr19_526760_547087	540185	GTGGCCAG others(598): Show GTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCC CCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGTTTAGAA TCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGG GGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCC CCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAG AATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCC GGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGG CCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTT AGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGG CCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCA GGCCCCCCACGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCGGGTT TAGAATCCGGAGGCTGGGATGGCCAGGCCCCCGGGTTTAGAATCCAGAGG CTGGGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00544.hp2 HG01069.hp1 others(47): Show HG00099.hp1 HG00544.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01496.hp1 HG01517.hp2 HG01934.hp2 HG01975.hp2 HG02071.hp1 HG02148.hp1 HG02258.hp2 HG02300.hp1 HG02717.hp2 HG02738.hp1 HG02886.hp1 HG02965.hp2 HG03041.hp2 HG03579.hp1 NA18944.hp2 NA18947.hp1 NA18950.hp1 NA18956.hp1 NA18961.hp2 NA18963.hp1 NA18967.hp1 NA18970.hp1 NA18973.hp2 NA18977.hp1 NA18980.hp1 NA18982.hp2 NA18990.hp2 NA18993.hp2 NA18995.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp2 NA19004.hp2 NA19005.hp1 NA19012.hp2 NA19056.hp2 NA19060.hp2 NA19066.hp1 NA19088.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0012 a0001c0001t0001 a0001c0001t0009 a0001c0001t0012	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0019 others(16): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0150 a0001c0001t0009g0003 a0001c0001t0012g0096	50	302	0.1656	-605	c.498 others(16): Show c.498-1137_498-533del	CDC34	ENSG00000099804.9	transcript	ENST00000215574.9	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
DBNDD1_chr16_89999871_90024456	90003450	TTCCCTCC others(598): Show TTCCCTCCCCCGGCCCGGGCTACCTTTATATGCACGTGGGGTGGGACTTC TATGACTCCCTCCCCCGGCCCGGGCTACCTTTACATGCACGTGCGGTGGG ACTTCTGTGATTCCCTCCCCCGGCCCGGGCTACCTTTATATGCACGTGGG GTGGGACTTCTGTGACTCCCTCCCCTGGCCCGGGCTACCTTTACGTGCAC GTGGGGCGGGACTTCTATGACTCCCTCCCCCGGCCCGGGCCACCTTTACG TGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCTGGCCCGGGCCACCT TTACGTGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCTGGCCCGGGC CACCTTTACGTGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCCGGCC CGGGCCACCTTTACGTGCACGTGGGGCGGGACTTCTGTGATTCCCTCCCC CGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGACTTCTGTGACTCCC TCCCCCGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGACTTCTGTGA CTCCCTCCCCTGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGACTTC TTTGAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0180 a0001c0001t0003g0180	1	362	0.0028	-605	c.22 others(11): Show c.2280_*2884del	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding		1420		chr16	TogoVar
DCAF8_chr1_160210720_160267549	160235187	ACAGTGGC others(598): Show ACAGTGGCATGATCTCAGCTCACTGCAACCTCCACCTCCTGGGCTCAAGC GATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGTGCCA CCACACACGGCTAATTTTTGTATTTTCAGTAGAGACGAGGTTTCACCATG TTAGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACAAAGTGCT GGGGTTACAGGCATGAGCCACTGCACCTGACCAAGATTTGTTATAATAAT CTTTAAGACAAACAAGACAATAAACGATCTAGATATCTATCAATAAGGTA AAGGTTAAATAAACTGTGGTACACCAATGCTATGACATTTCTCTCATGGT TAACAACAAGGTAGCTTTTATGGTCCAACACAGAAAAATCTCCCACATTG TAACATGAAATAAGCAAACTGCAGAAACATACATATATGTTTATATATAC ATACAAGTATACTTATGGGGAGAAAGGAGAAAGTGTATATATGTATTTAG GTACAAAATGTATACAAAAGGGACTAAAAAGGTGTTCAAAATTACTTACA ATGATTTTTTTTTTTTTTCTGAGATGGAGTTTTGCTCCGTCACTCAGGAT GGAGTG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp1 HG02965.hp1 others(1): Show HG01884.hp1 HG02055.hp1 HG02965.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 others(1): Show a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0004t0001g0180	4	334	0.0120	-605	c.959 others(17): Show c.959+1343_959+1947del	DCAF8	ENSG00000132716.19	transcript	ENST00000368074.6	protein_coding	6/13			chr1	TogoVar
DHRSX_chrX_2214506_2505976	2279236	AGGGAGAG others(598): Show AGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGA AATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGA GGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAA GAGAGAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAG AGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGG AGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGAGGGAGAGAGAAG GAAGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAAC AGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGA AATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGA GGGCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAGAGAGA AAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGG AGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAG GGAACG	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0013 a0003c0003t0013	a0003c0003t0013g0002 a0003c0003t0013g0002	1	47	0.0213	-605	c.388 others(19): Show c.388+11661_388+12265del	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2279349	AGAGGGAG others(598): Show AGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGAT GGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAG GAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAACGGGG AGAGAGAGGGAGGGCAAACGAGAGAGGGAGAGAGAAGGAAGAGGAGGAAA TGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGG GAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGA GAGAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAG GGAGAGAGAAGGAAGAGGAGGAAATGGGGGAGAGAGAAAGAGAGATGGAG AGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAAG AGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAACGGGGAGAG AGAGGGAGGGCAAACGAGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGG GGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGG GCAAAC	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0006 a0003c0003t0005g0006	1	48	0.0208	-605	c.388 others(19): Show c.388+11548_388+12152del	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6			chrX	TogoVar
EHMT1_chr9_137614005_137841127	137818595	GGCGCCAT others(598): Show GGCGCCATGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTAC CGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGA GAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGA GGGGCGCCGTGTACCGAGACTGTAGAGAGGCCGACTTAGGGGCGCCGTGT ACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCATGTACCGAGACCGTA GAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACT GAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGT GTACCGAGACCGTAGAGAGGCCGACTTAGGGGCGCCGTGTACCGAGACCG TAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGA CTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCC GTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGAC CGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCC GATTGA	G G	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA18979.hp1 HG02129.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0091 a0001c0001t0001g0068 a0001c0001t0001g0091	2	152	0.0132	-605	c.354 others(18): Show c.3540+459_3540+1063del	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
ERICH1_chr8_659200_736224	675871	TGAGGACA others(598): Show TGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCC CCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGC GGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCCCGGCGAGGACAGAGAC GCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAG AGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGG ACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGCCCCCTCG GCGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGC CCCTCGGCGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGACGCG GCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAG ACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGA CAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGC GAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCCC CTCGGC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	371	0.0027	-605	c.305 others(17): Show c.305-2429_305-1825del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
GZMM_chr19_539053_554922	540185	GTGGCCAG others(598): Show GTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCC CCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGTTTAGAA TCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGG GGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCC CCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAG AATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCC GGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGG CCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTT AGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGG CCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCA GGCCCCCCACGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCGGGTT TAGAATCCGGAGGCTGGGATGGCCAGGCCCCCGGGTTTAGAATCCAGAGG CTGGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00544.hp2 others(66): Show HG00099.hp2 HG00280.hp2 HG00544.hp2 HG00733.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01192.hp1 HG01258.hp2 HG01358.hp2 HG01496.hp1 HG01516.hp2 HG01517.hp1 HG01928.hp2 HG01934.hp1 HG01975.hp1 HG02071.hp2 HG02109.hp2 HG02148.hp2 HG02258.hp2 HG02300.hp2 HG02717.hp2 HG02738.hp1 HG02886.hp2 HG02965.hp1 HG03041.hp1 HG03579.hp2 HG03704.hp2 HG04204.hp2 HG06807.hp2 NA18944.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18956.hp1 NA18961.hp1 NA18962.hp2 NA18966.hp1 NA18970.hp1 NA18973.hp1 NA18975.hp2 NA18977.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18990.hp1 NA18993.hp1 NA18995.hp1 NA18998.hp1 NA18999.hp2 NA19000.hp2 NA19004.hp1 NA19005.hp1 NA19012.hp2 NA19055.hp2 NA19056.hp1 NA19066.hp1 NA19074.hp2 NA19083.hp2 NA19088.hp2 NA19089.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0006 a0008 a0012	a0001c0001 a0001c0003 a0001c0019 others(5): Show a0001c0001 a0001c0003 a0001c0019 a0002c0002 a0003c0004 a0006c0007 a0008c0014 a0012c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0003t0002 a0001c0019t0001 a0002c0002t0001 a0003c0004t0001 a0006c0007t0001 a0008c0014t0001 a0012c0012t0001	a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0013 others(47): Show a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0039 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0147 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0002g0050 a0001c0001t0002g0229 a0001c0001t0003g0227 a0001c0001t0004g0223 a0001c0003t0002g0222 a0001c0003t0002g0224 a0001c0019t0001g0127 a0002c0002t0001g0002 a0002c0002t0001g0132 a0003c0004t0001g0216 a0006c0007t0001g0213 a0008c0014t0001g0008 a0012c0012t0001g0214	69	367	0.1880	-605	c.-38 others(11): Show c.-3886_-3282del	GZMM	ENSG00000197540.8	transcript	ENST00000264553.6	protein_coding		3867		chr19	TogoVar
LRP1B_chr2_140226423_142136016	141638404	AATTGCCT others(598): Show AATTGCCTAGCCTCTGGTGTTTCTCTATAGCAATGCAAGAATGGGCCAAT ACAGTATCCATCAATGGCACTGGTTGTAACATCTGTCTAGGAGCAGTGAG GGGCAAGCCATTGTCAGTCGAGGCCACAAAAGAAAGTTACCAACTAGTTC ACCAAATGGAGCTTCGGGAAACACACTGGAGGCCGAGACCAGGCAAAGCA GTGGTCTTTGCGTGGTCTCTTCACACAAAGCACAGAGCACCACGCAGACT GAGAAAGTAGATTCATTCCTGGACCCAGGAGTACGCATCATCAAGCAATT TGAAGGCTTATGTGACATAGTTAATAAAAAGAAATATGAGCCATATTTAA AACAAAGTTTAGTTAAGAATGGCATGGTATTAGTACTGGGTACATGAAAG CATCAGTGGAAGAAGGGCAATGCCATCCTGGATCAAAATTGAGACTGTAA GGTAGCCATATATATATATATATATATATGTGTGTGTATGTGCGTGTGTG TGTGTGTGTGTATACATACACACATATACATACACACACGCACATACACA CACATATATATATATGGCTACCTTAGAGTCTCAAAAAAAAATATATATAT ATATAT	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01884.hp1 HG02723.hp2 others(1): Show HG01261.hp1 HG01884.hp1 HG02723.hp2 HG02922.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0001c0007 a0001c0028 others(1): Show a0001c0005 a0001c0007 a0001c0028 a0002c0004	a0001c0005t0008 a0001c0007t0003 a0001c0028t0002 others(1): Show a0001c0005t0008 a0001c0007t0003 a0001c0028t0002 a0002c0004t0004	a0001c0005t0008g0010 a0001c0007t0003g0002 a0001c0028t0002g0020 others(1): Show a0001c0005t0008g0010 a0001c0007t0003g0002 a0001c0028t0002g0020 a0002c0004t0004g0006	4	28	0.1429	-605	c.206 others(21): Show c.206-158476_206-157872del	LRP1B	ENSG00000168702.18	transcript	ENST00000389484.8	protein_coding	2/90			chr2	TogoVar
MAD1L1_chr7_1810795_2237945	2035548	CGGGACAG others(598): Show CGGGACAGAGCTGGGGTCCAGGCTCCCAGGCATGAGCGCGGGAGCACTGA CAAGTCGGGACAGAGCTGGGGTCCAGGCTCCCAGGCATGAGCGCGGGAGC ACTGACAAGTGGGGACAGAGCTGGGGTCCAGGCTCCCAGGCATGAGCGCG GGAGCACTGACAAGTCGGGACAGAGCTGGGGTCCAGGCTCCCAGGCATGA GCGCGGGAGCACTGACAAGTCGGGACAGAGCTGGGGTCCAGGCTCCCAGG CATGAGCGCGGGAGCACTGACAAGTCGGGACAGAGCTGGGGTCCAGGCTC CCAGGCATGAGCGCGGGAGCACTGACAAGTCGGGACAGAGCTGGGGTCCA GGCTCCCAGGCATGAGCGCGGGAGCACTGACAAGTCGGGACAGAGCTGGG GTCCAGGCTCCCAGGCATGAGCGCGGGAGCACTGACAAGTCGGGACAGAG CTGGGGTCCAGGCTCCCAGGCATGAGCGCGGGAGCACTGACAAGTCGGGA CAGAGCTGGGGTCCAGGCTCCCAGGCATGAGCGCGGGAGCACTGACAAGT TGGGACAGAGCTGGGGTCCAGGCTCCCAGGCATGAGCGCGGGAGCACTGA CAAGTG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02109.hp1 HG02280.hp1 others(11): Show HG01884.hp2 HG02109.hp1 HG02280.hp1 HG02451.hp1 HG02572.hp1 HG02895.hp1 HG02897.hp1 HG03195.hp1 HG03209.hp2 HG03516.hp1 NA18522.hp1 NA19030.hp2 NA19043.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 others(1): Show a0001c0001 a0001c0003 a0001c0007 a0001c0011	a0001c0001t0001 a0001c0003t0001 a0001c0007t0004 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0007t0004 a0001c0011t0001	a0001c0001t0001g0081 a0001c0001t0001g0146 a0001c0001t0001g0147 others(11): Show a0001c0001t0001g0081 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0003t0001g0073 a0001c0007t0004g0079 a0001c0007t0004g0080 a0001c0011t0001g0244	14	261	0.0536	-605	c.121 others(21): Show c.1219-21511_1219-20907del	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	12/18			chr7	TogoVar
MYOM2_chr8_2040046_2150456	2085676	ACTGTCGT others(598): Show ACTGTCGTGATCTCTGCGTGGCCCCCCACTGTCGTGATCTCTTTGTGGCC CCCCACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGT GGCCCCCTACTGTCGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCT GCGTGGCCCCACTGTCGTGATCTCTTTGTGGCCCCCCACTGTTGTGATCT CTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTG ATCTCTGCGTGGCCCCACTGTCGTGATCTCTTTGTGGCCCCCCACTGTTG TGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCCACT GTCGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCC TACTGTCGTGATCTCTGCGTGGCCCCCCACTGTTGTGATCTCTTTGTGGC CCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACTGTTGTGATCTCTGCG TGGCCCCACTGTCATGATCTCTGCGTGGCCCCACTGTCATGATCTCTTTG TGGCCCCCCACTGTTGTGATCTTTGCGTGGCCCCACTGTCATGATCTCTG GCACCC	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0014 a0014	a0014c0113 a0014c0113	a0014c0113t0001 a0014c0113t0001	a0014c0113t0001g0344 a0014c0113t0001g0344	1	398	0.0025	-605	c.164 others(17): Show c.1644+288_1644+892del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
TOLLIP_chr11_1269371_1314632	1294073	AGTGTGTC others(598): Show AGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACAGT GTGTCTCCTTTCCCTGCATTTCTACAAAAGCCCGCATGGCTCAGTGTGTC TCCTTTCCCTGCATTTCTATGAAAGCCGTGTGGCTCACAGTGTGTCTCCT TTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACAGTGTGTCTCCTTTC CCTGCATTTCTACGAAAGCCCGCGTGGCTCACAGTGTGTCTCCTTTCCCT GCATTTCTACGAAAGCCCGCGTGGCTCACGGTGTGTCTCCTTTCCCTGCA TTTCTACGAAAGCCCGCATGGCTCAGTGTGTCTCCTTTCCCTGCATTTCT ACGAAAGCCGCGTGGCTCACAGTGTGTCTCCTTTCCCTGCATTTCTACGA AAGCCCGCGTGGCTCACAGTGTGTCTCCTTTCCCTGCATTTCTACGAAAG CCCGCGTGGCTCACGGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCC GCGTGGCTCACGGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCG TGGCTCACGGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGG CTCACG	A A	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0270 a0001c0001t0004g0270	1	345	0.0029	-605	c.183 others(16): Show c.183+967_183+1571del	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	2/5			chr11	TogoVar
ZFYVE28_chr4_2264597_2423645	2396035	GGAGCTGA others(598): Show GGAGCTGATGGGACAAGCTATCCTGCAGAGGGGACCCAAGGCGGGGGTGT CTGAGCTGATGGGACCAGCCATCCTGCAGAGGGGCCACAAGGCGGGGTGT CTGAGCTGATGGGACCAGCCATCCTGCAGAGGGGACACAAGGTGGGGGTG TCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGGCCACAAGGCGGGGTG TCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGGCCACAAGGCGGGGTG TCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGGACACAAGGTGGGGGT GTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGGCCATAAGGCGGGGT GTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGGACACAAGGCGGGGT GTCTGAGCTGATGGGACGGGCCATCCTGCAGAGGGGACACAAGGTGGGGG TGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGGCCATAAGGCGGGG TGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGGCCACAAGGCGGGG TGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGGACACAAGGCGGGG GTGTCT	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00621.hp2 HG02027.hp2 others(6): Show HG00408.hp2 HG00621.hp2 HG02027.hp2 HG02056.hp2 HG02080.hp2 HG02523.hp2 HG03486.hp2 NA18967.hp1 NA19011.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0001c0005 a0001c0023 others(1): Show a0001c0002 a0001c0005 a0001c0023 a0004c0029	a0001c0002t0001 a0001c0005t0002 a0001c0005t0009 others(2): Show a0001c0002t0001 a0001c0005t0002 a0001c0005t0009 a0001c0023t0001 a0004c0029t0018	a0001c0002t0001g0037 a0001c0002t0001g0094 a0001c0002t0001g0100 others(6): Show a0001c0002t0001g0037 a0001c0002t0001g0094 a0001c0002t0001g0100 a0001c0002t0001g0111 a0001c0005t0002g0055 a0001c0005t0002g0137 a0001c0005t0009g0001 a0001c0023t0001g0141 a0004c0029t0018g0286	9	280	0.0321	-605	c.39+ others(17): Show c.39+21645_39+22249del	ZFYVE28	ENSG00000159733.14	transcript	ENST00000290974.7	protein_coding	1/12			chr4	TogoVar
ACAP3_chr1_1287391_1312930	1288791	TCCCCCGT others(597): Show TCCCCCGTGTCCCTGTTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGTTCCG TCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGA GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCG TCCCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCC CTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCCC GTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03471.hp2 HG03453.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	2	222	0.0090	-604	c.41 others(11): Show c.4169_*4772del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3599		chr1	TogoVar
EHMT1_chr9_137614005_137841127	137818824	GCGCCATG others(597): Show GCGCCATGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACC GAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAG AGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTTAG GGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTA CCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAG AGAGGCCGATTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTG AGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTG TACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACCGT AGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGAC TGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCG TGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACC GTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCG ACTGA	G G	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA21309.hp1 NA20805.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0133 a0001c0001t0001g0122 a0001c0001t0001g0133	2	168	0.0119	-604	c.354 others(18): Show c.3540+687_3540+1290del	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26			chr9	TogoVar
ERICH1_chr8_659200_736224	675185	TGAGGACA others(597): Show TGAGGACAGAGACGCGGCGCCCCCTCGTGAGGACAGAGACGCGGCGGCCC CTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGC GGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGAC GCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACA GAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGGCG AGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCT CGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGG CCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGC GGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGA GACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGG ACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGT GAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCC TCGGC	T T	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19079.hp2 NA19078.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0080 a0001c0001t0002g0291 a0001c0001t0001g0080 a0001c0001t0002g0291	2	319	0.0063	-604	c.305 others(17): Show c.305-1742_305-1139del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	675734	TGAGGACA others(597): Show TGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCC CTCGGCGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGG CGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGAC GCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACA GAGGCGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAG GACAGAGACGCGGCGCCCCCCCGGCGAGGACAGAGACGCGGCGGCCCCTC GTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCC CCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGC GCCCCCTCGGCGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGA CGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGA CAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTG AGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCC TCGGC	T T	intron_variant intron_variant	MODIFIER	HG01255.hp2 NA19088.hp1 HG01255.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0093 a0001c0002t0001g0087 a0001c0001t0001g0093 a0001c0002t0001g0087	2	329	0.0061	-604	c.305 others(17): Show c.305-2291_305-1688del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
KLK4_chr19_50901351_50916395	50913778	GTCTGTCC others(597): Show GTCTGTCCATCTTTCTCTGTGTCTCTCTCTCCTCCCATCTCTGTCTCTGT CTCTCTGTCTGTGTCTCCGCACCTGTGTCTCTGTCCATCTTTCTCTGTGT CTCTCTCTCCTCCCATCTCTGTCTCTGTCTCTCTGTCTGTGGCTTCGCAC CTGTCTCTGTCCATCTTTCTCTGTGTCTCTCTCTCCTCCCATCTCTGTCT CTGTCTCTCTGTCTGTGTCTCCGCACCTGTGTGTCTGTCCATCTTTCTCT GTCTCTCTCTCCTCCCATCTCTGTCTCTGTCTCTCTGTCTGTCTCCGCAC CTGTCTGTCCATCTTTCTCTGTGTCTCTCTCCTCCCATCTCTGTCTCTGT CTCTCTGTCTGTCTCTGCACCTGTGTCTGTCCATCTTTCTCTGTGTCTCT CTCCTCCCATCTCTGTCTCTGTCTCTCTGTCTGTGTCTCCGCACCTGTGT GTCTGTCCATCTTTCTCTGTGTCTCTCTCCTCCCATCTCTGTCTCTGTCT CTCTGTCTGTGTCTCCGCACCTGTGTCTCTGTCCATCTTTCTCTGTGTCT CTCTCTCTCCTCCCATCTCTGTCTCTGTCTCTCTGTCTGTGGCTTCGCAC ATGTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG01099.hp2 HG01106.hp1 others(15): Show HG00733.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01192.hp1 HG01358.hp1 HG01433.hp1 HG01515.hp2 HG01981.hp1 HG02735.hp1 HG02738.hp1 HG03017.hp1 HG03490.hp2 HG03704.hp2 HG03831.hp1 HG04204.hp1 NA20752.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0003 a0002c0003t0002 a0002c0003t0004	a0001c0001t0002g0003 a0001c0001t0002g0045 a0001c0001t0002g0108 others(8): Show a0001c0001t0002g0003 a0001c0001t0002g0045 a0001c0001t0002g0108 a0001c0001t0003g0135 a0001c0001t0004g0024 a0001c0001t0004g0031 a0001c0002t0003g0002 a0002c0003t0002g0102 a0002c0003t0004g0007 a0002c0003t0004g0101 a0002c0003t0004g0104	18	372	0.0484	-604	c.-30 others(11): Show c.-3055_-2452del	KLK4	ENSG00000167749.12	transcript	ENST00000324041.6	protein_coding		2384		chr19	TogoVar
NRXN3_chr14_78165373_79873291	79087947	TGTTTCTG others(597): Show TGTTTCTGGTTAAAGCAACACCAGTATTTGGATGAGTTGGAGCAACGTCA GAATGATTGGAAATTGCTCAAAGCTCACAATGGTACTTGAAGTAAAAGGA TGAACCCCTTCAAGAACAATGCTAGGTTCTCCTTTGCTACATGGAGGGCA ATGGCGCATGATAGGCCAGGGAGAAAAGAATCACCAGATCCTTTGCCTAC TTCTGCCAAATCTGTTGCAATGTTTCAGATAAATCACTTGAACTATCTGA GCTTTGAAGTGCTTCAGCTTCCACTCAATAAGAAAAATTGTTTGAACCTC TCTCATTCTGCTCACCATCTTACCCTTCTCCTTGAAGATCAGCTTAAAAT AAAGTGATTTGAAGCCCCAGGTGAAATGGGAGCCCTTTACTACCTCCTGC TAAAGGTGGTAAATGACTGTGCCCAACTTTGACCTCCTCTAGTTAGCAAC ATCATTCTAAACTTAGCCCAGACAGAAAAGGATGACAGCAAAGGTTTGAA CACTTTTAAAGGCCTCTCCCTTTCCCCAGAGTTCTTATATATCTATGTAT ATGTGTATAATATGTTTGAATATTTTATTATAATTATCCTCCTTAAGAAA AACAA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03516.hp1 NA19240.hp1 HG02257.hp1 HG03516.hp1 NA19240.hp1	a0001 a0001	a0001c0006 a0001c0007 a0001c0006 a0001c0007	a0001c0006t0017 a0001c0007t0002 a0001c0006t0017 a0001c0007t0002	a0001c0006t0017g0001 a0001c0007t0002g0010 a0001c0007t0002g0020 a0001c0006t0017g0001 a0001c0007t0002g0010 a0001c0007t0002g0020	3	24	0.1250	-604	c.326 others(22): Show c.3262+99807_3262+100410del	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	15/20			chr14	TogoVar

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