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
NSUN6_chr10_18540561_18656587	18561727	TAGAATAT others(822): Show TAGAATATGGAATAGAATGGAGAAAGGAATAGAATATGGAATAGAATGGA GAACGGAATGGAGAATACAATGGAATGGAATGCAGTGGTGAATAGAATGG AATGGAGAATGTAATAGAATGAAACGTAATGCAGGCTGGAATGGAGAATG GAATGGAATGGAGAATAGAATGGACAATGGAAAGAAATGGAGAATGGAAT GAATGGAATGGAGAATGGAAAAGAGTGGAATGGAATGGAGAATGGAATGG AATGAAAAATGATATGGAATGGAGAATTGAAAGGAATGGATAATGGAATG GAATGCGGAATGGAATGGAGCATGGAATGGAGTGGAGCATGAAATGGAAT GAAGTGGAGAATGGAGTGGAATGGAACGGAAAGTGGAGCACTGAATGGAA TGGAGAATAGAATGGAATGGAAAATGGAATGGAATAGAATGGAGAATGGA AGGGACTGGAGAATGGAATGGAATGGAGAATAGAATGCAATAGAATGGAA TGGAATGGAGAATGGAATGGATTGGACAGGAATGCAGAATGGAATGGAAT AGAATGGAGAATGGAATGCAACGGAGAATGGAATGGAATGCAGAATGGAA TGGATTGCAGAATGGAATGGACTGCGAAACGGAATAGCATGAAGAAGAAT GGAGGATAGAATAGAAGGGAATGGAGAACGGAATGGAATGGAGAATGGAA TGGAATGCGGAATGGAATGGAATGCGGAATGGAATGGATTGCAGAATGGA ATGGATTGTAGAATGGAACAGAATGAAGAAGAATGGAGAATGGAATAGAA TGGAATGGAGAATGGAATAGAATGGAATGG	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02559.hp2 HG02258.hp1 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0288 a0001c0001t0011g0289 a0001c0001t0011g0288 a0001c0001t0011g0289	2	344	0.0058	-829	c.923 others(18): Show c.923-10585_923-9757del	NSUN6	ENSG00000241058.4	transcript	ENST00000377304.7	protein_coding	8/10			chr10	TogoVar
AVPI1_chr10_97672424_97692241	97683862	GGGTCAGC others(821): Show GGGTCAGCTTCCCTGTTACTGCTATAAGAACAGCTTGATGCTGTTTGTTT CTGAGGGCCTGCACCAGTGCTGAGAGTCAACAATTCCACCCGCAGGTAAG TCTGTACAGAAGGAGGAACGGAGCTACTTGTCTGCCAAAGCCTAGGGGCA ATGTGTGGACAGGTCTGGCTAACTGGGTGCTAGGAAATTCCCCAGCCAGT AGCTCCCTTTCTCCTCCCTACTCTATGTTGTTTTGCTGCAGTGGGCCCTG GGGTTAGCATCTGGTAGAAAACAGAACTCACAGCTCTAAAGCTCCCTAGT GACCTCAGCTGGCAATGACCAAGCCCGGGGCAGACGCCTAGGCAGGTCTG GGGTAGTAGGAGAAAGGGTGATATCTGGCCTCACCTCCCCAGGAAAAGAA GGGCAATAAGGATCATGTAGCAGCAGCTGCCTCGGGGAGGAAATGGCTTG GAGCCTGACTTCCCAACAACCTCTCCCAGGATGGCAAGGCTTTGACTCCA CAGCTTCAGCGAGCTGCGAGTCACAAACATACCAAGAAACCCTCAGGGAG AGTCTGAGCCTCCAGCCTCAACCCTCCTTGAACCTTAGGGAGGGCCTAGC ACCTCCAGATTTTGAGGCCCCTCACTCTTTTTACTCTTTTTTTTTTTTTT TTTTGAGGCGGAGTCTCACTCTGTCACCCACGCTGGAGTGCAGTGGCGCA ATCTCAGCTCACTGCAACCTCTGCCTCCAAGGTTCAAGCAATTTTCTTGC CTCAACAACCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACACGCCCG ACTAATTTTTGTATTTTTAGTAGAGACAA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	444	0.0023	-828	c.-11 others(17): Show c.-11+2076_-11+2903del	AVPI1	ENSG00000119986.7	transcript	ENST00000370626.4	protein_coding	1/2			chr10	TogoVar
LMLN_chr3_197955217_198048720	198004405	CCATCTAT others(821): Show CCATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAGTT TGCCATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAG TTTGCCATCTATCTATATATCATCTATACAGATACATATCATACGTAGTA AGTTTGACATCTATATATCATCTATACAGATACATATCATACGTAGTAAG TTTGACATCTATCTATATATCATCTATACAGATACATATCATACGTAGTA AGTTTGACATCTATCTATATATCATCTATACAGATACATATCATACGTAG TAAGTTTGACATCTATCTATATATCATCTATACAGATACATATCATACGT AGTAAGTTTGACATCTATCTATATATCATCTATACAGATACATATCATAC GTAGTAAGTTTGACATCTATCTATATATCATCTATACAGATACATATCAT ACGTAGTAAGTTTGACATCTATCTATATATCATCTATACAGATACATATC ATACGTAGTAAGTTTGACATCTATCTATATATCATCTATACAGATACATA TCATACGTAGTAAGTTTGACATCTATCTATATATCATCTATACAGATACA TATCATACGTAGTAAGTTTGCCATCTATCTATATATCATCTATACAGATA CATATCATACGTAGTAAGTTTGACATCTATCTATATATCATCTATACAGA TACATATCATACGTAGTAAGTTTGACATCTATCTATATATCATCTATACA GATACATATCATACGTAGTAAGTTTGACATCTATCTATATATCATCTATA CAGATACATATCATACGTAGTAAGTTTGA	C C	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0112 a0001c0001t0003g0112	1	238	0.0042	-828	c.131 others(19): Show c.1319+1332_1319+2159del	LMLN	ENSG00000185621.11	transcript	ENST00000420910.7	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSPH3_chr6_158967871_159005202	158997850	TATTTTAG others(821): Show TATTTTAGTTTTCTTACAGTGATAGACATCTCTTATAGAAAAAGAATTTG TTAGAACAAGATAATTATGAATTTAGAAAGAGCGTTTGAAATAAGCATCA ATAATTACATTGTTGATGTTCAATCATCAGTTTGACAATTCGTATTAAGT GCTTACTATGTACCAGGCATTGTACTAGGTGAACAAAAGATGCAAAAGTT CCTGCATCCATGGAGCTTGCATTCCTATAAAGTTCTGCTGAATTCAACAT TTGAGGCTTATGGAAAGAACTTTAGAGAACCGTTTAACTTTAAGAGAACT TTAAGAGTTTATGTTTTTTTTGCTGGGTGTGGTGGCTCAGGCCTGTAATC CCAGCATTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGA GAGTATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAAAATACAA AAAAAAAAAAAAAAAAAAAAAGAGCCGGGCGTGGTGGCGGGCGCCTGTAG TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGG TGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCGA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAGAAAAAAAAAAAGGCTTA TGTTTTGTTTTTTTTCTTTCCTATGTATGTTTGAATATTTGCAACTGTTC ATGGATGTAAAAACACAAACTGCCGTCCGGGCGCGGTGGCTCACGCTTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACTTGAGGCCAAGA GTTTGAGACCAGCCTGGCCAACGTGGCAA	T T	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01433.hp1 HG02602.hp1 others(2): Show HG01261.hp2 HG01433.hp1 HG02602.hp1 HG02622.hp1 HG03540.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0008 a0006c0006t0011 a0006c0006t0008 a0006c0006t0011	a0006c0006t0008g0040 a0006c0006t0008g0041 a0006c0006t0008g0042 others(2): Show a0006c0006t0008g0040 a0006c0006t0008g0041 a0006c0006t0008g0042 a0006c0006t0011g0038 a0006c0006t0011g0039	5	300	0.0167	-828	c.116 others(16): Show c.116+757_116+1584del	RSPH3	ENSG00000130363.13	transcript	ENST00000367069.7	protein_coding	1/7			chr6	TogoVar
SDHA_chr5_213320_262082	259201	AGCTCCGC others(821): Show AGCTCCGCCTCCCGTCCGAGCATTACCGTGTGAGCTCCGCCTCCCGTCAC AGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCT CCGCCCCCCGCCAGAGCATTACCGTGTGAGCTCCGCCCCCCGCCAGAGCA TTACCGTGTGAGCTCCGCCCCCCGCCACAGCATTACCGTGTGAGCTCCGC CTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGACAGAGCATTAC CGTGTGAGCTCCGCCTCCTGCCAGAGCATTACCGTGTGAGCTCCGCCTCC TGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTG TGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGCC AGAGCATTACCGTGTGAGCTCCGCCTCCCGTCCGAGCATTACCGTGTGAG CTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCCCCCGCCACAG CATTACCGTGTGAGCTCCGCCTCCCGTCCGAGCATTACCGTGTGAGCTCC GCCTCCCGTCCGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATT ACCGTGTGAGCTCCGCCTCCCGTCCGAGCATTACCGTGTGAGCTCCGCCT CCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCG TGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCG CCAGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTG AGCTCCGCCTCCCCACAGAGCATTACCGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG01256.hp2 HG02738.hp1 others(2): Show HG00639.hp1 HG01256.hp2 HG02738.hp1 HG03491.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0047 others(1): Show a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0047 a0001c0001t0001g0082	5	263	0.0190	-828	c.27 others(11): Show c.2782_*3609del	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		2120		chr5	TogoVar
ARHGAP42_chr11_100682288_100998941	100696607	AGCCTCCC others(820): Show AGCCTCCCAAAGTGCTGGGATTACAGGCGTGAACCACTGTGCCCGGCCCC CTAATTTTTTATTTTATTTTATTTTTAGAGACAGGGTCTTGCTCTGTTTC CCAGGCTGGAGTGCAGTGGCTATTCAGAGGCAAGATCATAGTGCACTACC GCCTCAAACTCCTGGCCTCAGTCAGTTCTCCCACCTCTACCTCCTGTGGA GCTGAAACTATAGGAACATGCCACTGCACTTACCTCAAAAAGTCTTAATT TTTAAAGGTATTTTTAAAATGCCAAATATGACATTCTAAAATGTTGGTTT ATCTGATTTGGTGATCATCTCTGGGTATACTGGAGAGTGTCTTCTATTTT GTTAAGAATGGGGAACCATCTCTAGGAGGGTTGTCAATGTCAGGTAACAT GTAAAAAAAAAATTGGAAAACTGCTGCCTGTATATAACTTGCTAGATTAA TAATAATACTATCCCTGAATCTTGGCTTTACTCTGGAAAAAAGTAGGTGG AAACGGAATGACATCCCTTTATTTGGAAGTTAGGCATGGTCATCAGTGGT GGAATTTCTTTTTTTGTTGTTTTGGTTTTTTTTTTTGTTTTTTTGAGACG AAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTC ACTGCAAGCTCCGCCTCCCAGGTTCAAGCCATTCTCCTGCCTCAGCCTCC CCAGTAGCTGGGACTACGGGCGCCCGGCACCACGCCCGGCTGATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCCAT CTCCTGACCTCGTGATCCGCCCGCCTCG	A A	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0172 a0001c0003t0001g0172	1	284	0.0035	-827	c.154 others(17): Show c.154+8807_154+9633del	ARHGAP42	ENSG00000165895.19	transcript	ENST00000298815.13	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
CACNG7_chr19_53904278_53948950	53920347	GTTTCCCC others(820): Show GTTTCCCCAGGTCTGGTCATTGGTGGAGTTGCCTCAGGTCTGGTCATTGG TGGACTTGCCCCAGGTCTGGTCATTGGTGGACTTGCCCCAGGCCGGTCAT TGGTGGAGTCGTCCCCAGGTCTGGTCATTGGTGGAGTTGCCCCAGGTCTG GTCATTGGTGGAGTTGCCCCAGGCTGGTCATTGGTGGAGTTGCCCCAGGC TGGTCATTGGTGGAGTTGTCCCCAGGCCTGGTCATTGGTGGAGTTGCCCC AGGTCTGGTATTGGTGGAGTTGCCCCAGGTCTGGTCATTGGTGGAGTTGC CCCAGGCTGGTCATTGGTGGAGTTGCCCCAGGTCTGGTCATTGGTGGACT TGCTCCAGGTCTGGTCATTGGTGGAGCTGTCCCAGGCTGGTCATTGGTGG AGTTGCCCCAGGTCTGGTCATTGGTGGAGTTGCCCCAGGCTGGTCATTGG TGGACTTGCCCCAGGCTGGTCATTGGTGGAGTTGTCCCCAGGCCTGGTAT TGGTGGAGTTGCCCCAGGTCTGGTCATTGGTGGAGTTGTCCCAGGTCTGG TCATTGGTGGAGTTGTCCCCAGGTCTGGTCATTGGTGGACTTGCCCCAGG CTGGTCATTGGTGGACTTGCCCCAGGCTGGTCATTGGTGGAGTTGCCCCA GGCTGGTCATTGGTGGAGTTGCCCCAGGCTGGTCATTGGTGGAGTTGCCC CAGGCCTGGTCATTGGTGGACTTGCCCCAGGTCTGGTCATTGGTGGAGTT GTCCCCAGGCCTGGTATTGGTGGAGTTGCCCCAGGTCTGGTCATTGGTGG AGTTGCCCCAGGCTGGTCATTGGTGGAC	G G	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	364	0.0027	-827	c.424 others(17): Show c.424+4845_424+5671del	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
ARHGEF10_chr8_1818926_1963641	1888941	CGAGACAC others(819): Show CGAGACACTGAGTGGGGTGAGGGGTCTGCGAGGAGACACTGAGGTGTGAG GGGTCTACAAGGAGTCACGGAGTGCAGTGAGAGTTGTGAGGAAACATGGA GTGGGGTGCGGGTCATGAGGAGACAGTGATTGGGGTGAGGGGTCCGTGAG GAGACACTGAGTGGGGTGTGAGGGGTCTGTGAGGAGACACTGTGAGTGGG GTGAGGGTTGTGAGGAGACGCTGAGTTGGGGGGTTGTGAGGAGAGCGTGG GGTGAGGTTTATTAGGAGACACTGAATGGGGTGAGGGTTGTGAGGAGACA TTGAGTGGGATGAGAGGTGTGAGGAGACACTGAATGTGGTGAGGGTTTGT GAGGAGATACTGCATGGGGTGAGCTTTCTTAGGAGACACTGAGTGGGTAA GAGTTGTGAGGAGACACTGAGTGGGGTGAGGGGTATGTGAGGAGACAGTG ATGTGAGGCATCTGTGAGGAGACACTGAGTGGGGTGAGGGGTCTGTGAGG AGACACTGAGTGGGGTGAGGGGTCTGTGAGGAGACACTGAGTGGGGTGAG GGGTCTGTGAGGAGACACTGAGTGGGGTGAGGGGTATTGAGGAGACACTG AGTAGGGTAAGGAGTCTGTGTGGAGACACTGAGTGGGGTGAGGGGTTTGT GAGGAGACACTGAGTGTGGGTGAGGGGTCTGTGAGGAGTCATGGAGTGTG GTGTGAGTTGTGAGAAAACTCGGAGTGGGGTGAGGGTCGTGAGGAAACAG TGGGGTGAAGGTTTGTGAGGAGACCCTGAGTGGAGTGAGGGTTGCGAGGA GACATTGAGTGGGATGAGGGTTGTGAG	C C	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02258.hp1 HG02280.hp2 others(9): Show HG01123.hp1 HG02258.hp1 HG02280.hp2 HG02572.hp2 HG02622.hp2 HG02818.hp1 HG02818.hp2 HG03041.hp2 HG03139.hp1 HG03471.hp1 HG03579.hp1 NA18906.hp1	a0001 a0003 a0018 others(1): Show a0001 a0003 a0018 a0023	a0001c0002 a0001c0007 a0001c0012 others(5): Show a0001c0002 a0001c0007 a0001c0012 a0001c0020 a0001c0041 a0003c0139 a0018c0094 a0023c0091	a0001c0002t0001 a0001c0002t0008 a0001c0002t0026 others(7): Show a0001c0002t0001 a0001c0002t0008 a0001c0002t0026 a0001c0007t0008 a0001c0012t0063 a0001c0020t0021 a0001c0041t0007 a0003c0139t0011 a0018c0094t0016 a0023c0091t0008	a0001c0002t0001g0189 a0001c0002t0001g0244 a0001c0002t0008g0357 others(9): Show a0001c0002t0001g0189 a0001c0002t0001g0244 a0001c0002t0008g0357 a0001c0002t0026g0267 a0001c0007t0008g0349 a0001c0007t0008g0362 a0001c0012t0063g0266 a0001c0020t0021g0257 a0001c0041t0007g0158 a0003c0139t0011g0270 a0018c0094t0016g0146 a0023c0091t0008g0354	12	324	0.0370	-826	c.118 others(19): Show c.1182+3257_1183-3780del	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	11/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
RABEP1_chr17_5277284_5391340	5366553	TTCCTGCC others(819): Show TTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACTTACCACCAC ACCTGGCTAATTTTTGTAGTTTTAGTAGAGATGGGGTTTCACGTTGTTGG CCAGGCTGGTCCTGAACTCCTGACCTCAGGTGATCCACTTGCCTCGGCCT CCCAAAGTGCTAGGTGTGAGCCATGCACCTGGCCCATCAGTAGCTTATGT CTTCATTAATGGTGTCTTTTAATGAACAGAAGTCCTTAATAATGTAGTCA AATTTGGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAG GCCGAGGCGGGCAGATTACCTGAGGTCAGGAGTTTGAGACCAGCCTGACC AACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCGAGTGTT TCGGCGCATTCCTGTAATCCCAGCCACTTGGGAGGCTGAGGCAGGAGAAT CGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGGTCATGCCATTG CACTCCCGCCTGGGCAACAAGAGTGAAACTCCGTCTGAAAGAAAAAAAAA AATCAAATTTATTAATTATTTCTTTATGGTTTGTGATTTTCCTCCTTTTT AAAAAGGAATCTTTTCCTATGGAGTTATGAAGATATCCTATATTATAGAG GTTTTATTCACATTTATATCTAAAATTCCTCTAGAACTTAGATACACACA CACACACACACACACACACAGTGTAGATAAGGGTAAAACTTTTTTGTCTC GCTGTGTCGCCCAGGCTAGAGTGCAGTGGCACGATCTTGGCTCACTGCAA CGTCTGCCTCCCAGGTTCAAGCGATTC	T T	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0011 a0001c0007t0011	a0001c0007t0011g0246 a0001c0007t0011g0246	1	350	0.0029	-826	c.178 others(18): Show c.1785+1345_1786-962del	RABEP1	ENSG00000029725.17	transcript	ENST00000537505.6	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHISAL1_chr22_44238665_44317951	44265187	AAGGGAGA others(819): Show AAGGGAGACCAAAGGATGGGGACGGAGGCAAGTGGCTCGCTTGTAACAAA TGGGTAGAAGTGACAGGGATGGGATGTCCCTTCCAAGGTTAGGCTCCAAA AAGACTGTGGGTTCCACCGGGCTCTGCACCTTGAACTCTCTCTCCCAGAG CCCTCTTTTTGGGCAGTCAGCTGTCATGCCATGAGCTACCCTGTGGAGAG GCCCACCTGGTGAGCAACTGACACCCCCAGCCAACACCTGAACCCGCTAC CAGCCACCTGAGTGAGCTGAGAGGTGTATCCTCTCCAGCACAGCCTTGAG ATAACCAGTCTCAGCCAATGCTTTGATTGCAGCCTCCTGAGAGACCCCCA AGCCAGGAGACTCCAAGCCAGGAGACCTAGTGAAGCCACACCCTGACTCA CACCTTTCTGACTCACAGAAAGGGTTAAATAAATGTTTTAAGCTGCTGAC TTGTGGGGTAACTTGTTACACAGCACTAACTAGCTAATACAAGGCTTCAC AGCAGAGCTAGAGATTCTGGGAGAGGGAGGATCTTGCAGATTGTGCATCT GGACATCCCTCTACTCTATCCTCAGGGAATGAGCCTCTGACCTCAGCTTG CACACCCCAGCGATGGGGAGCTCCCTGCTTACTGAGGCCAGCAAATCTGC TGTAGAGCCAGGCTGCCTGGGAAGGTCTTCCCTCTGCCTCCTGCTTCCTC TTCCTACTGGTGCCAGTAAGCCTCTGGGGGTTCCCTGGCACCAGTCCCAT CCTTCAGGGATGTGTGGGTTCCCCCAGAGTGAGCTGGTGTCTGGATCAGG CTTCTCTGCATCACAGCTTCATCCCCT	A A	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA19003.hp2 NA18612.hp1 NA19003.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0057 a0001c0002t0002 a0001c0002t0057	a0001c0002t0002g0290 a0001c0002t0057g0214 a0001c0002t0002g0290 a0001c0002t0057g0214	2	378	0.0053	-826	c.600 others(19): Show c.600-16328_600-15503del	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	4/4			chr22	TogoVar
ASMT_chrX_1610059_1648081	1639517	ACATGAGG others(818): Show ACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCC AGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCAC AGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCC ACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGA TGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACA TGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGC TCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAG CCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATC CCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAG GGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATG AGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGT CCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCT CTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCA TCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGG ACAGTGTCCCAGTGTCCTGTGAGGTCCATCCCTCCTGATGGTTCATGAGG ATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCC TGTGAGGTCCACCCATCCTGATGATC	A A	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0074 a0002c0002t0001g0074	1	137	0.0073	-825	c.910 others(17): Show c.910+3120_911-2299del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
DBNDD1_chr16_89999871_90024456	90003460	CGGCCCGG others(818): Show CGGCCCGGGCTACCTTTATATGCACGTGGGGTGGGACTTCTATGACTCCC TCCCCCGGCCCGGGCTACCTTTACATGCACGTGCGGTGGGACTTCTGTGA TTCCCTCCCCCGGCCCGGGCTACCTTTATATGCACGTGGGGTGGGACTTC TGTGACTCCCTCCCCTGGCCCGGGCTACCTTTACGTGCACGTGGGGCGGG ACTTCTATGACTCCCTCCCCCGGCCCGGGCCACCTTTACGTGCACGTGGG GCGGGACTTCTGTGACTCCCTCCCCTGGCCCGGGCCACCTTTACGTGCAC GTGGGGCGGGACTTCTGTGACTCCCTCCCCTGGCCCGGGCCACCTTTACG TGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCCGGCCCGGGCCACCT TTACGTGCACGTGGGGCGGGACTTCTGTGATTCCCTCCCCCGGCCCGGGC CACCTTTACGTGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCCGGCC CGGGCCACCTTTACGTGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCC TGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGACTTCTTTGACTCCC TCCCCCGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGACTTCTGTGA CTCCCTCCCCTGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGACTTC TGTGACTCCCTCCCCTGGCCCGGGCCACCTTTACGTGCACGTGGGGTGGG ACTTCTGTGACTCCCTCCCCTGGCCCGGGCCACCTTTACGTGCACGTGGG GTGGGACTTCTGTGACTCCCTCCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	348	0.0029	-825	c.20 others(11): Show c.2050_*2874del	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding		1410		chr16	TogoVar
DHRS12_chr13_51762993_51809163	51774431	CCTACATG others(818): Show CCTACATGTATTCTCCTACAGTACATGTATTCTCCTACAGTATTCTCCTA CAGTATTCTCCTACATGTATTCTCCTACAGTATTCTCCTACAGTATTCTC CTACATGTATTCTACAGTATTCTCCTACATGTATTCTCCTACATGTATTC TCCTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTACAGTATTC TCCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACATGTATT CTACAGTATTCTCCTACAGTATTCTACTACATGTATTCTCCTACAGTACA TGTATTCTCCTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTCC TACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCC TACATGTATTCTCCTACATGTATTCTCCTACAGTATTCTCCTACAGTATT CTCCTACATGTATTCTACAGTATTCTCCTACAGTATTCTCCTACATGTAT TCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACAGTATTCT CCTACATGTATTCTCCTACAGTACATGTATTCTCCTACAGTATTCTCCTA CAGTATTCTCCTACATGTATTCTCCTACAGTATTCTCCTACAGTATTCTC CTACATGTATTCTACAGTATTCTCCTACATGTATTCTCCTACATGTATTC TCCTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTACAGTATTC TCCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACATGTATT CTACAGTATTCTCCTACAGTATTCTA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01256.hp1 HG01258.hp2 others(1): Show HG00099.hp1 HG01256.hp1 HG01258.hp2 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0247 a0003c0003t0001g0047 a0003c0003t0001g0224 a0001c0001t0001g0247 a0003c0003t0001g0047 a0003c0003t0001g0224	4	321	0.0125	-825	c.364 others(16): Show c.364-1222_364-398del	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
FOXQ1_chr6_1307098_1319758	1318933	CGGTGGCG others(818): Show CGGTGGCGCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGG ATCACCTGAGTTAGGAAGTTCAAGACTAGCCTGACCAACATGGAGAAACC CCGTCACTACTAAAAATACAAAATTAGCCGGGCATGGTGGCGCACGCCTG TAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGTTAGGA AGTTCAAGACTAGCCTGACCAACATGGAGAAACCCCGTCACTACTAAAAA TACAAAATTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCACTTTG GGAGGCCAAGGCGGGTGGATCACCTGAGTTAGGAAGTTCAAGACTAGCCT GACCAACATGGAGAAACCCCGTCACTACTAAAAATACAAAATTAGCCGGG CGCGGTGGCGCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGT GGATCACCTGAGTTAGGAAGTTCAAGACTAGCCTGACCAACATGGAGAAA CCCCGTCACTACTAAAAATACAAAATTAGCCGGGCAGCGGTGGCGCACGC CTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGTTA GGAAGTTCAAGACTAGCCTGACCAACATGGAGAAACCCCGTCACTACTAA AAATACAAAATTAGCCGGGCGCGGTGGCGCACGCCTGTAATCCCAGCACT TTGGGAGGCCAAGGCGGGTGGATCACCTGAGTTAGGAAGTTCAAGACTAG CCTGACCAACATGGAGAAACCCCGTCACTACTAAAAATACAAAATTAGCC GGGCAGCGGTGGCGCACGCCTGTAAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	324	0.0031	-825	c.50 others(11): Show c.5018_*5842del	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		4176		chr6	TogoVar
MYT1L_chr2_1784113_2336275	2003942	AGTTCTTT others(818): Show AGTTCTTTCCTGCATGCGTTCTTTCCTGCAGGCATTCTTTCCTGCAAGCG TTCTTTCCTGCATGCCTTCTTTCCTGCATGCCTTCTTTCCTGCATGCATT CTTTCCTGCATACTTTCCTGCAGGCGTTCTTTCCTGCATATGTTCTTTCC TGCGTGCCTTCTTTCCTGCGTGCCTTCCTTCCTGTGTGCCTTCTTTCCTG CATACGTTCTTTCCTGTGTGCCTTCTTTCCTGCGTGCCTCCTTTCCTGCA GGCGTTCTTTCCTGAATGTGTTCTTTCCTGCAGGCGTTCTTTCCTGCAGG CGTTCTTTCCTGCAGGCGTTCTTTCCTGCAGGCGTTCTTTCCTGCATGCG TTCTTTCCTGCATGCGTTCTTTCCTGCAGGCGTTCTTTCCTGCATACGTT CTTTCCTGCGTGCCTTCTTTCCTGTGTGCCTTCTTTCCTGCAGGCGTTCT TTCCTGCATGCGTTCTTTCCTGCATGCGTTCTTTCCTGCATGCGTTCTTT CCTGCAGGCGTTCTTTCCTGAATATGTTCTTTCCTGCTTGCCTTCTTTCC TGCAGGCATTCTTTCCTGCAGGCATTATTTCCTGCATACGTTCTTTCCTG CATGCGTTCTTTCCTGCGTGCCTTCTCTTCTGCAGGCGTTCTTTCCTGCA TGCGTTCTTTCCTGCAGGCATTCTTTCCTGTGTGCCTTCTTTCCTGCAGG CATTCTTTCCTGCGTGCCTTCTTTCCTGCGTGCCTTCTTTCCTGCGTGCA TTCTTTCCTGTGTGCCTTTCCTGCGTGCCTTCTTTCCTGCGTGCCTTCTT TCCTGCAGGCGTTCTTTCCTGAATAC	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0096 a0001c0003t0009g0096	1	101	0.0099	-825	c.-15 others(19): Show c.-157-7420_-157-6596del	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	4/24			chr2	TogoVar
S1PR4_chr19_3173769_3185332	3173922	TCTCATGG others(818): Show TCTCATGGGACGCCTGTGCCTCTCATGGGACACCTGTGTTCTCATGGGAC GCCTGTGCCCTCATGGGACGCCTGTGCCCTCATGGGACACCTGTGTTCTC ATGGGACGCCTGCATTCTCATGGGACGCCTGTGCCCTCATGGGACACCTG TGTTCTCATGGGACACCTGTGTTCTCATGGGATGCCTGTGCCCTCATGGG ATGCCTGTACCCCTCATGGGACGCCTGTGTTCTCATGGGATGCCTGTACC CTCATGGGACGCCTGTACCCCTCATGGGACATCTGTGCCCTCATGGGATG CCTGTGCCCCTCATGGGATGCCTGTGCCCTCATGGGACGCCTGTGTTCTC ATGGGATGCCTGTACCCTCATGGGACGCCTGTGCCCCTCATGGGATGCCT GTGTTCTCATGGGATGCCCGTGCCCCGCATGGGACGCCTGAATTCTCATG GGACACCTGTGCCCTCATGGGACACCTGTGTTCTCATGGGACGCCTGTGT TCTCATGGGACACCTGTGCCCTCATGGGACGCCTGTGTTCTCATGGGACG CCTGTGCCCTCATGGGACGCCTGTGTTCTCATGGGACGCCTGTGCCCTCA TGGGACGCCTGTGCCCTCATGGGACGCCTGTGTTCTCATGGGACGCCTGT GCCCCTCATGGGACGCCTGTGCCCTCATGGGACGCCTGTGTTCTCATGGG ACGCCTGTGCCCCTCATGGGACGCCTGTGTTCTCATGGGACGCCTGTGCC CTCATGGGACGCCTGTGCCCTCATGGGACGCCTGTGCCCTCATGGGACGC CTGTGTTCTCATGGGACGCCTGTGCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02886.hp1 HG01884.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	409	0.0049	-825	c.-48 others(11): Show c.-4870_-4046del	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		4846		chr19	TogoVar
UNKL_chr16_1358205_1419704	1373149	ATGGAACA others(818): Show ATGGAACACACCGCACAGGGACTGCCGGCCAACACCGCACAGAGACCTCA GCAGCATGGAACACACCGCACAGGGACTGCCGGCCAACACCGCACAGAGA CCTCAGCAGCGTGGAGCACACCGCACAGGGACTGCCGGCCAACACCGCAC AGAGACCTCAGCAGCGTGGAGCACACCACACAGGGACTGCCGGCCAACAC CGCACAGAGACCTCAGCAGCGTGGGGCACACCACACAGGGACTGCCGGCC AACACCGCACAGAGACCTCAGCAGCGTGGGGCACACCACACAGGGACTGC CGGCCAACACCGCACAGAGACCTCAGCAGCGTGGGGCACACCGCACAGGG ACTGCCGGCCAACACCGCACAGAGACCTCAGCAGCGTGGAGCACACCGCA CAGGGACTGCCGGCCAACACCGCACAGAGACCTCAGCAGCGTGGAGCACA CCGCACAGGGACTGCCGGCCAACACCGCACAGAGACCTCAGCAGCGTGGA GCACACCGCACAGGGACTGCCGGCCAACACCGCACAGAGACCTCAGCAGC GTGGAGCACACCGCACAGGGACTGCCGGCCAACACCGCACAGAGACCTCA GCAGCGTGGGGCACACCGCACAGGGACTGCCGGCCTACACCGCACAGAGA CCTCAGCAGCGTGGAGCACACCACACAGGGACTGCCGGCCAACACCGCAC AGAGACCTCAGCAGCATGGAACACACCGCACAGGGACTGCCGGCCAACAC CGCACAGAGACCTCAGCAGCGTGGAGCACACCGCACAGGGACTGCCGGCC AACACCGCACAGAGACCTCAGCAGCG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03225.hp2 NA20129.hp2 HG02630.hp2 HG03225.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0070 a0001c0001t0032 a0001c0001t0070	a0001c0001t0032g0063 a0001c0001t0032g0064 a0001c0001t0070g0065 a0001c0001t0032g0063 a0001c0001t0032g0064 a0001c0001t0070g0065	3	320	0.0094	-825	c.126 others(19): Show c.1265-2363_1265-1539del	UNKL	ENSG00000059145.19	transcript	ENST00000389221.9	protein_coding	10/14			chr16	TogoVar
ACAP3_chr1_1287391_1312930	1288746	TCTGCTCC others(817): Show TCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCC CGTGTCCCTGTTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCT CCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCC TGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGTTCCGTCCCC CGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTC TGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCC CGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCC GTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTC TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCC CGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCC CCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTC TCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTG CTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTG TCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCC CGTGTCCCTGCTCCGTCCCGTGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0209 a0003c0004t0001g0209	1	269	0.0037	-824	c.39 others(11): Show c.3994_*4817del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3644		chr1	TogoVar
ASMT_chrX_1610059_1648081	1640310	GCTCTCCT others(817): Show GCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACAC AGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCA TCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGAT AGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGCTTCA TGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGT CCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCT CTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCA TCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGG ACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGG ATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCC TGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCT GTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCC TGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACC ATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGAT GTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGT GAGGTCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTG TGTGAGATAGGGACCATGTCCCAGC	G G	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0015 a0002c0002t0001g0015	1	221	0.0045	-824	c.911 others(17): Show c.911-2492_911-1669del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8			chrX	TogoVar
EXT1_chr8_117789490_118116826	117862528	CTTCAGTA others(817): Show CTTCAGTAGTCAGTGAGTCGCTTATTCTTACTGGGGACCAGTGTTTACTG AGTGCTCATTCCATCCAGGCACTGCTGGAATTGGATGTTAGATCTACAAA GGGGAATTAGACAGGAATGGGATGTGGTCCGTGGAGACTGTGGCTTACTG ACACTGAAGTCCTGCAAATGCCAGTCACCTGTGGCTACAAATCATGACAG GGAACTAAACAGGTGGGCGTGAGAATGCTTATGGGTGGACAGTGGCATCT CAGTAAAGATGGGGTGCTCAGAAATGCCCTCTCTGAAGAAGTGACATTGA AACTGAGGGCTGAGGACAGAGGAGAAGCCAGCTCCCTAAAGGGAGCTGTG GGAAGAATAATTCGGGAAGTGGAAAGCATGTATGCAGAGCCCCAGGTTGC AACATTCTGGACACACTCAAGGAACAATGGAAACTAAGCCAGTCTGGGTG GGAGTGGTGGAGGTGTTGGCAGAGGAAGGAAGGGAAGTGATATGGTCAAA GGTATTTGACTAACAGGGCAGTGGGCGTTGTTAGCTTTGATGCATACTCA TGTACTCCACAGAAAACACAAACACAAAATTATATGGTGCTTAATTTTCC AGATGCTATTTTAAACTTTTTACTTATATAACCTTCACTTATTTCTCACA ATAACTCTAAAAGGCAAGTACTATTAGTATCATCCTCTTTTTACAGAGCA GAAAACAAGTACAGAGAGGTGAAGTGACTTGCCCCCAGACACACAGCTAC TATGCACTAGAACCCAGACTGGAACGGTAGTGGTCTGATTCCAAAGTGCA TGCTCTTCACTTCTATATTCTCAGA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00323.hp2 others(8): Show HG00140.hp1 HG00323.hp1 HG00323.hp2 HG01071.hp2 HG01074.hp2 HG01884.hp1 HG02145.hp1 HG03239.hp2 HG04115.hp1 NA19043.hp1 NA19060.hp2	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0001 a0001c0003t0002 a0001c0003t0007 others(4): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0007 a0001c0003t0046 a0001c0006t0001 a0001c0006t0004 a0001c0006t0009	a0001c0003t0001g0039 a0001c0003t0002g0098 a0001c0003t0002g0106 others(8): Show a0001c0003t0001g0039 a0001c0003t0002g0098 a0001c0003t0002g0106 a0001c0003t0002g0130 a0001c0003t0002g0153 a0001c0003t0002g0154 a0001c0003t0007g0133 a0001c0003t0046g0094 a0001c0006t0001g0135 a0001c0006t0004g0020 a0001c0006t0009g0074	11	190	0.0579	-824	c.963 others(19): Show c.963-26151_963-25328del	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
FMN2_chr1_240086883_240480187	240451194	TGTCTCTA others(817): Show TGTCTCTACTAAAAATACAAAAATTAGCTGGGCGCGGTGGTGGGTACCTG TAATCCTCATGAGGCTGAGGCAGGGGAATCACTTGAACCTGGGAGGTGGA GGGTGCAGTGAGCCGAGATCACAACACTGCACTCTAGACTGGGTGACAGA GCAAGACTCCATCTCAAAAAAAAAAAAAATTGTCTTGAGGAGGACAGAAT TGCAGGTGTGTTGGCTGAGTCTGTAGCTGTTTTGCTGTGAGCAGAATAGA ACCAGCGTCATTAGGTCAGTACCAACTCTTTTTGGGCTTTACAATATTCT GCCCCTGCAGTGGTTCTGGGGATGAGCTGGGAAATGAGATGATTGGCGTG TTCCCCAGGAGGAAATGCCAGCAAGCCATGTTAGAGAGGCCCAACTGCCT GCTCCCCAACAGGGGCCTCATCCCCTGAGTTTCATTAACCTAAAGATGAC CTCTGTCTCCACTAACTTAGGAGTCACTGGGAGTAGAACTAGTAGAGCAA TAGAAGAAAGTGCGCTTATAAGCCTGATATAGTAAAATAGTGGGTAGCAG CACCAGCAGTGAGACATGAAGGAAGTGTAGTGTTGGGTTTATTTTTAAAT AAACAGATAGTATCTGTCATTATATTAATGATTTAGTATTTTGCTTTGTT ATTTTAGCACTATTAATATTTCTCTTGTTTTATAATGGACATCTAAAGTG GGCTGCATTTACCATGACTCTGAAAAATAAAAAAACTTAAAATTCAGTTA TATATTGGGAGGCCGAGGTGGGCAGATCACAAGGTCAGGAGATCGAGACC ATCCTGGCTAACACAGTGAAACCCC	T T	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0004 a0004	a0004c0021 a0004c0021	a0004c0021t0001 a0004c0021t0001	a0004c0021t0001g0082 a0004c0021t0001g0082	1	172	0.0058	-824	c.506 others(21): Show c.5060+13007_5060+13830del	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
RPH3AL_chr17_207389_357807	287412	ACCTCGCA others(817): Show ACCTCGCACCCTCTCTCCACCGTCAGACCTCACACCCTCTCTCCACCGTC AGACCTCACACCCTCTCTCCACCGTCAGACCTCACTCCCTCTCTCTCCAC CGTCAGACCTCACTCCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCC ACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACCTCACACCCTCTCT CCACCGTCAGACCTCACACCCTCTCTCCACCGTCAGACCTCGCACCCTCT CTCTCCACCGTCAGAGCTCGCACCCTCTCTCTCCACCGTCAGACCTCGCA CCCTCTCTCTCCACCGACAGACCTCGCACCCTCTCTCTCCACCGACAGAC CTCGCACTCTCTCTCCACCGACAGACCTCGCACGCTCTCTCTCCACCGTC AGACCTCACACTCTCTCTCCACCGTCAGACCTCACTCCCTCTCTCCACCG ACAGACCTCACACTCTCTCTCCACCGACAGAGCTCACACTCTCTCTCCAC CGTCAGACCTCACTCTCTCTCTCCACCGTCAGACCTCCCACCCTCTCTCC ACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCAGACCTCACACCCTCT CTCCACCGTCAGACCTCACTCCCTCTCTCCACCGTCAGACCTCACTCCGT CTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCAGACCTCACA CCCTCTCTCCACCGTCAGACCTCACTCCCTCTCTCCACCGTCAGACCTCA CTCCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACCT CGCACCCTCTCTCTCCACCGTCAGG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 NA19003.hp2 NA19004.hp1 others(1): Show HG00280.hp1 NA19003.hp2 NA19004.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0015t0007	a0001c0001t0001g0115 a0001c0001t0002g0010 a0001c0001t0003g0052 others(1): Show a0001c0001t0001g0115 a0001c0001t0002g0010 a0001c0001t0003g0052 a0001c0015t0007g0026	4	132	0.0303	-824	c.352 others(17): Show c.352-6382_352-5559del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
SCUBE1_chr22_43192280_43348372	43280764	ATTGGCCA others(817): Show ATTGGCCACCCTCCTGTCATCTCCTCCTCAGCTACCCTGTCACCTCCCTC AGCCATCCTCCTGTCACCTCCCTCTTTGGCCACCCTCCTGTCACCTCCTC CTCAGTCACCCTGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTCCTC AGCTACCCTGTCACCTCCCTCAGCCATCCTCCTGTCACCTCCCTCTTTGG CCACCCTCCTGTCACCTCCTCCTCAGTCACCCTGTCACCTCCCTTGGCCA CCCTTCTGTCATCTCCTCCTCAGCTATCCTGTCACCTCCCTCAGCCATCC TCCTGTCACCTCCCTTGGCCACCCTCCTGTCACCTCCTCCTCAGTCACCC TGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGCTATCCTGT CACCTCCCTCAGCCATCCTCCTGTCACCTCCCTTGGCCACCCTCCTGTCA CCTCCTCCTCAGTCACCCTGTCACCTCCCTTGGCCACCCTTCTGTCATCT CCTCCTCAGCTACCCTGTCACCTCCCTCAGCCATCCTCCTGTCACCTCCC TCTTTGGCCACCCTCCTGTCACCTCCTCCTCAGTCACCCTGTCACCTCCC TTGGCCACCCTTCTGTCATCTCCTCCTCAGCTATCCTGTCACCTCCCTCA GCCATCCTCCTGTCACCTCCCTTGGCCACCCTCCTGTCATCTCCCTCAGC CACCCTCCTGTCACCTCCCTCTTTGGCCACCCTCCTGTCACCTCCTCCTC AGCCACCCTCCTGTCACCTCCCTCAGTCACCCTCCTGTCACCTCCCCCTC AGCCACCCTCCTGTCACCTCCCTTC	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0047 a0002c0002t0047	a0002c0002t0047g0206 a0002c0002t0047g0206	1	249	0.0040	-824	c.484 others(18): Show c.484+9458_484+10281del	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
CPNE4_chr3_131528569_132040014	131827305	CCTCACTG others(816): Show CCTCACTGCACACATGACTTTAATGTACATCTATTCAGGAGTGAAGCAAG ACTGTGGTAAACTAGGTAGACATGGTAATTCATGGCTACTCATGGGCAGC CAGTCTCATGGACTCACCTGCAGTGGTAGCCTCTTGCCTTATTTCACTTG TATTTGTTGAAGAAAAGCAGCAACGGACAAATAAGATATAGCTGCTAGCA CAGCAAGATGTGAAACATTTTATGACCTAAACACAATAACCCATAATGCA AAAAACCTGCAAAATAGAGCAGAGTGAATCAAATTCACTAGAGAATTCCT TTATTTTTACCACAATGGCTGTTATGCTTTAGAATACTTACTTCCAATCT TGGCCCTTAATTATATCATAAGAAAAGGTCAACACCTTTGGGTGTTGGGA TGGAAATGTAGGAAAGTATGCTTTTTAAGTTGAATTTGTAATAGAAACAA ATGAAAAACTAATAAGAAAAAAATGAGAGAATTAAACATGGAGCAGATCC AGATGGGGCAAGACATAAATATAGAGCAGTTTCAAAGCAAACCTTGCAAG ATACCAGTCTGGTACCTTGTATGATTTTCCTAGGCTGAGGACCTGACAGA TTCTTAAAAAATACCTTGTGACATGCATTATGCTCTTCACAAAGAGCATA TCTGAGCTCTTCACGAGGTTCCTGCAAAGAGCTCATATTTCAATGAGGGA GAAAGAAACAGAAGAAACAATTTAAAATACCCTAATGTGATAAGTCATAT ATATGGCAGTAGCATCCCTATTGTCTAGAAAAAGCCACTATAACATTGTA TTGCTTAGAGTCTAAATTTATTTA	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	92	0.0109	-823	c.180 others(19): Show c.180+77136_180+77958del	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	2/15			chr3	TogoVar
DCLK2_chr4_150073445_150262438	150105351	ATAAAAGT others(816): Show ATAAAAGTCTAAACAATTTGAAAAGACAGAATTAGTGAACATTAAAAAAT GTTGTTTCACAAAAAGGTGAATTAAACAAGTGAGATGTTTTAATATTTAA AACTGACAAGCTCTTAAAGAAAATGTTCAGTGTTTTTGAATATGCAGTGA ATTGGTATTCTCAAATGGTGATGGAAGTGTAAAATTCATAAGCTTTATGA AAAGCATTTTGTTAATATGTATAACTATACAGATGTTCTTACTATTTGAA CTAGTATATTAACTTTTGCAATTTATCCTAAATGACCTGACATGCAAACA TAATTACACATAAAAATTTCATCCCAGCATAAAAGCAAAAAATTGAAAGT AGAAAATAGTTGTTATATTACCATGGAATTCATATGTACTGGCCATTGAA AATTATGTTTGGAGTAATATTTAAAGACATGAGAAAATGTTAAATGGAAA AAGCAAGAAACAAATTCCATGTAATATGTTTTCAATTCTTTGTACAGTTA AAGAAAAGTAGCAGCAGAAGTATTTTTTTAAAGCTAATTCAGAAGGAAAC AAGATTATACTTGCCATCAGAAATTGAATATTTGCTGTTCTGATATCCAC TACTACTTCCTCATATCTGCTCAAAAACAAAAACTCAAGCACTGAAAAAG AAAAGACTGATCTCAGATTTTAGAAATTCATACACATTATGAGTTAATTA TTTTTTCATGTGCCAAAAAAAGATCTTTTAAGACTTTCAAGTAAAATATT TCTTTGGAAAAATTAGATTTAATTTTTGATAAACACAACATTGGATATTG CATTTTCAGCGAACCGGGTATTCT	A A	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0006 a0002c0008t0006	a0002c0008t0006g0032 a0002c0008t0006g0032	1	114	0.0088	-823	c.756 others(17): Show c.756+2546_756+3368del	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
ERICH1_chr8_659200_736224	675595	CGGCGAGG others(816): Show CGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGC CCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGC GGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAG ACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGA CAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGT GAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCC TCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCG GCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGACGC GGCGCCCCCCCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGA GACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGA CAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGC GAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCC CTCGGCGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGGCGCGG CGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGAC GCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGAC AGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGA GGACAGAGACGCGGCGCCCCCTCG	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG03225.hp2 HG01069.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	2	353	0.0057	-823	c.305 others(17): Show c.305-2371_305-1549del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
MTREX_chr5_55302989_55430579	55329778	CTCTGGCT others(816): Show CTCTGGCTGCTTTTAAGATTGATTTTTATCATTGATTTTAAGCAGTTTGT TTTTTATGTACCTTGGTGTTGTTTTTGCATTTTTTTCTTGTCTTTGGGTT TGTTTTTGCAGTCCTCAGGGCTCTTGTTCCAGGACTCTTTTGGGCCGCTT AAAGTTGTCTCACAACTCACTGATACTATATTCATTTTTTTTCTTTTGAG TTTCATTTGTGGGTCATTTCTAATGCAATGTCTTTAAATTTATTAATCTT TGCTTCTGAATTTTCTAATCTGCTGTTAATCTCATTGAGTGCTACTTTTT TATTGGTTGGTTTGTTTTTGAGGCAGGGTCTTGCTCTGTCGCCCAGGTTG GAGTGCAGTGGCACAAACAGAGCTCATTTGCATTCTCAAACTTGTGGGCT CAAGCAGTCCAACTCAGCGTCCCTAGTAGCTGGGACCACAGGCATGTGCC ACCATGACTGGCTAAGTTTTTGATTATTTGTGGAGATGAAATCTCGCTAT GTTGCCTACACTGGTCTCAAACTCCTGGGCTCAAGTGATTCTCCTGCCTT GCTCTCCCAAAGTGCTGGGCTTATAGGCATGAACTGAATGCATTTTTAAT CTCAGATATTATCTTTTCTTTGCTAGATGTTCAATTTATTTTTGTTTTCC TCCGTGTCTCTTAACTTTTTTTAGCTTCCTTTTTTTCGTAATGTTTTTTT CTATTTCTAGTTTATAGAAATCCTAACTGCTTGAACAGATAGGGTACAGT TACAAAAACGTTAAATGTCCTTGTTACTACTTCGTTTATCTGATTACTTC CTGGTCTCTTTGATGGATTGACTT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 NA20129.hp2 HG01081.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0216 a0001c0001t0001g0217	2	318	0.0063	-823	c.515 others(16): Show c.515+970_515+1792del	MTREX	ENSG00000039123.16	transcript	ENST00000230640.10	protein_coding	5/26		INFO_REALIGN_3_PRIME	chr5	TogoVar
PRPF6_chr20_63976132_64038100	64011752	ATTTCTTT others(816): Show ATTTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGGACAGGAAGTC TCATGGCTTCTTTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGGA CAGGAAGTCTCACGGCTTCTTTCTTTGCTAGTAGAAATGATACACCTACG AGAGGAGGACAGGAAGTCTCACGGCTTCTTTCTTTGCTAGTAGAAATGAT ACACCTACGAGAGGAGGACAGGAAGTCTCACGGCTTCTTTCTTTGCTAGT AGAAATGATACACCTACGAGAGGAGGACAGGAAGTCTCACGGCTTCTTTC TTTGCTAGTAGAAATGATACACCTACGAGAGGAGGACAGGAAGTCTCACG GCTTCTTTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGGACAGGA AGTCTCACGGCTTCTTTCTTTGCTAGTAGAAATGATACACCTACGAGAGG AGGACAGGAAGTCTCACGGCTTCTTTCTTTGCTAGTAGAAATGATACACC TACGAGAGGAGGACAGGAAGTCTCACGGCTTCTTTCTTTGCTAGTAGAAA TGATACACCTACGAGAGGAGGACAGGAAGTCTCACGGCTTCTTTCTTTGC TAGTAGAAATGATACACCTACGAGAGGAGGACAGGAAGTCTCACGGCTTC TTTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGGACAGGAAGTCT CACGGCTTCTTTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGGAC AGGAAGTCTCACGGCTTCTTTCTTTGCTAGTAGAAATGATACACCTACGA GAGGAGGACAGGAAGTCTCACGGC	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0211 a0001c0001t0004g0211	1	265	0.0038	-823	c.152 others(18): Show c.1524+302_1524+1124del	PRPF6	ENSG00000101161.8	transcript	ENST00000266079.5	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr20	TogoVar
UNKL_chr16_1358205_1419704	1372990	GGCACACC others(816): Show GGCACACCACACAGGGACTGCCGGCCAACACCGCAGAGACCTCAGCAGCG TGGAGCACACCACACAGGGACTGCCGGCCTACACCGCACAGAGACCTCAG CAGCATGGAACACACCACACAGGGACTGCCGGCCAACACCGCACAGAGAC CTCAGCAGCATGGAACACACCGCACAGGGACTGCCGGCCAACACCGCACA GAGACCTCAGCAGCATGGAACACACCGCACAGGGACTGCCGGCCAACACC GCACAGAGACCTCAGCAGCGTGGAGCACACCGCACAGGGACTGCCGGCCA ACACCGCACAGAGACCTCAGCAGCGTGGAGCACACCACACAGGGACTGCC GGCCAACACCGCACAGAGACCTCAGCAGCGTGGGGCACACCACACAGGGA CTGCCGGCCAACACCGCACAGAGACCTCAGCAGCGTGGGGCACACCACAC AGGGACTGCCGGCCAACACCGCACAGAGACCTCAGCAGCGTGGGGCACAC CGCACAGGGACTGCCGGCCAACACCGCACAGAGACCTCAGCAGCGTGGAG CACACCGCACAGGGACTGCCGGCCAACACCGCACAGAGACCTCAGCAGCG TGGAGCACACCGCACAGGGACTGCCGGCCAACACCGCACAGAGACCTCAG CAGCGTGGAGCACACCGCACAGGGACTGCCGGCCAACACCGCACAGAGAC CTCAGCAGCGTGGAGCACACCGCACAGGGACTGCCGGCCAACACCGCACA GAGACCTCAGCAGCGTGGGGCACACCGCACAGGGACTGCCGGCCTACACC GCACAGAGACCTCAGCAGCGTGGA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02486.hp1 HG03209.hp2 HG02451.hp2 HG02486.hp1 HG03209.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0027 a0001c0007t0028 a0001c0007t0027 a0001c0007t0028	a0001c0007t0027g0012 a0001c0007t0028g0009 a0001c0007t0028g0011 a0001c0007t0027g0012 a0001c0007t0028g0009 a0001c0007t0028g0011	3	318	0.0094	-823	c.126 others(19): Show c.1265-2202_1265-1380del	UNKL	ENSG00000059145.19	transcript	ENST00000389221.9	protein_coding	10/14			chr16	TogoVar
VAV2_chr9_133756894_133997324	133827245	CTGAGCGG others(816): Show CTGAGCGGGGGCATCACCACCTACCGCTGCGCCCACTGAGGCTGACCACT GAGTGGGGGCATCGCCAGCTACTGCTGTGCCCACTGGGGCTGACCACTGA GCGGGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGC ACGGGCATCGCCAGCTACTGCTGTGCCCACTGAGGCTGACCACTGAGTGG GGGCATCACCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGTGGGG GCATCGCCAGCTACTGCTGTGCCCACTGGGGCTGACCACTGAGCACGGGC ATCGCCAGCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCAT CGCCAGCTACTGCTGTGCCCACTGAGGCTGACCACTGAGTGGGGGCATCA CCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCGCC AGCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCACCAC CTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCACCACCT ACCGCTGCGCCCACTGGGGCTGACCACTGAGTGGGGGCATCACCACCTAC CGCTGCGCCCACTGAGGCTGACCACTGAGTGGGGGCATCGCCAGCTACTG CTGTGCCCACTGGGGCTGACCACTGAGCGGGGGCATCACCACCTACCGCT GCGCCCACTGGGGCTGACCACTGAGCACGGGCATCACCACCTACCGCTGC GCCCACTGGGGCTGACCACTGAGTGGGGGCATCACCACCTACCGCTGCGC CCACTGAGGCTGACCACTGAGTGG	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0034 a0001c0002t0034	a0001c0002t0034g0117 a0001c0002t0034g0117	1	130	0.0077	-823	c.449 others(17): Show c.449+6204_449+7026del	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VAV2_chr9_133756894_133997324	133827434	CCACTGAG others(816): Show CCACTGAGTGGGGGCATCACCACCTACCGCTGCGCCCACTGAGGCTGACC ACTGAGTGGGGGCATCGCCAGCTACTGCTGTGCCCACTGGGGCTGACCAC TGAGCACGGGCATCGCCAGCTACCGCTGCGCCCACTGGGGCTGACCACTG AGCACGGGCATCGCCAGCTACTGCTGTGCCCACTGAGGCTGACCACTGAG TGGGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCA CGGGCATCGCCAGCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACG GGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGG CATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGTGGGGGCA TCACCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGTGGGGGCATC GCCAGCTACTGCTGTGCCCACTGGGGCTGACCACTGAGCGGGGGCATCAC CACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCACCA CCTACCGCTGCGCCCACTGGGGCTGACCACTGAGTGGGGGCATCACCACC TACCGCTGCGCCCACTGAGGCTGACCACTGAGTGGGGGCATCGCCAGCTA CTGCTGTGCCCACTGGGGCTGACCACTGAGCGGGGGCATCACCACCTACC GCTGCGCCCACTGAGGCTGACCACTGAGCACGGGCATCGCCAGCTACTGC TGTGCCCACTGAGGCTGACCACTGAGTGGGGGCATCACCACCTACCGCTG CGCCCACTGGGGCTGACCACTGAG	C C	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0160 a0001c0003t0006g0160	1	196	0.0051	-823	c.449 others(17): Show c.449+6015_449+6837del	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
ALOX15_chr17_4625919_4646678	4640467	TAATTCCA others(815): Show TAATTCCAAGGAGATCGAGTAGCGGGAACATTTATTGAGCCTTTACTGTG TGTCACCAACTGCCCACCATAGGGAGGAAAAAAGGGAGGAGGGAGCGCGC CTTTCCACCTTCCGTGCCCCGTCCCCTCACCATGGAGTCGCGGGGCCACC TGCTCCGTGCGCATTTTCTCTCTTCCTGGCTCCCTTTGCCCCGCTTTCTC GGAAGCTCGGAGCAAGGGCGTGGAGTGCGGGGAGCAGGGCTCCGCAGGTT CAAGAGGACGCGGGCGGTCGGGGGCGGGACGGATATTGGGCAGGGACGCG GGAGATGCTCAGGGTCTAGAACTGACTGCGCCGGATTCTTGTTTAGAGGG AGGTGAAGAGAGGAAGGAGGCGCGGGTGACACCGGGGGAGGCAGGAGGAG AGGGCTGGGAGGTGGGGAGAGGGGAGGACCTCATCCGGGCATGTTGCTTT GACGTTCCCTGAGACAGACATCCGGATTTGGGGATCTGGGAGAGAGCTAG AGCAGTGATGGGAATTTGGGCTTTCGCGGAAGAAAAAAAGTTAACAGGAC CGGGTAGAACACCCGGTAGATGTGACATGAGATATGACGGGAGGTGGGTC GGGAAATCGAGAGCGTTCTCCTGTCTTGACTCCCCATCCCTTCCCTCTCA CCACCCACTCCACCCCAGGTGATAAAGCCTGAAAGGTAGAGATCCAACAG CGCTAGCGGTTGAAACGGTTTTTAAAATAGAGAAAGCGAGAGGACCGACG GCGGCTCCAGTGACTGCTGAGTTTCCAGACAAGGGAGCTTTGTGCAATGA GGGGCGCACAGGAGCATGCCCTC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01943.hp1 HG02056.hp1 others(11): Show HG00544.hp1 HG01943.hp1 HG02056.hp1 HG02074.hp2 HG02129.hp1 HG02155.hp1 NA18612.hp2 NA18960.hp1 NA18965.hp1 NA19000.hp2 NA19011.hp2 NA19070.hp2 NA19072.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0012 a0001c0001t0001g0056 a0001c0001t0001g0057 others(4): Show a0001c0001t0001g0012 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0063 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0002g0170	14	470	0.0298	-822	c.135 others(15): Show c.135+228_136-837del	ALOX15	ENSG00000161905.13	transcript	ENST00000293761.8	protein_coding	1/13			chr17	TogoVar
ALOX15_chr17_4625919_4646678	4640484	AGTAGCGG others(815): Show AGTAGCGGGAACATTTATTGAGCCTTTACTGTGTGTCACCAACTGCCCAC CATAGGGAGGAAAAAAGGGAGGAGGGAGCGCGCCTTTCCACCTTCCGTGC CCCGTCCCCTCACCATGGAGTCGCGGGGCCACCTGCTCCGTGCGCATTTT CTCTCTTCCTGGCTCCCTTTGCCCCGCTTTCTCGGAAGCTCGGAGCAAGG GCGTGGAGTGCGGGGAGCAGGGCTCCGCAGGTTCAAGAGGACGCGGGCGG TCGGGGGCGGGACGGATATTGGGCAGGGACGCGGGAGATGCTCAGGGTCT AGAACTGACTGCGCCGGATTCTTGTTTAGAGGGAGGTGAAGAGAGGAAGG AGGCGCGGGTGACACCGGGGGAGGCAGGAGGAGAGGGCTGGGAGGTGGGG AGAGGGGAGGACCTCATCCGGGCATGTTGCTTTGACGTTCCCTGAGACAG ACATCCGGATTTGGGGATCTGGGAGAGAGCTAGAGCAGTGATGGGAATTT GGGCTTTCGCGGAAGAAAAAAAGTTAACAGGACCGGGTAGAACACCCGGT AGATGTGACATGAGATATGACGGGAGGTGGGTCGGGAAATCGAGAGCGTT CTCCTGTCTTGACTCCCCATCCCTTCCCTCTCACCACCCACTCCACCCCA GGTGATAAAGCCTGAAAGGTAGAGATCCAACAGCGCTAGCGGTTGAAACG GTTTTTAAAATAGAGAAAGCGAGAGGACCGACGGCGGCTCCAGTGACTGC TGAGTTTCCAGACAAGGGAGCTTTGTGCAATGAGGGGCGCACAGGAGCAT GCCCTCAATTCCAAGGAGATCGG	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG04228.hp2 NA18941.hp2 others(8): Show HG02717.hp2 HG04228.hp2 NA18941.hp2 NA18946.hp1 NA18948.hp1 NA18956.hp2 NA19043.hp1 NA19066.hp2 NA19079.hp1 NA19080.hp2 NA19088.hp2	a0001 a0014 a0001 a0014	a0001c0001 a0001c0010 a0014c0012 a0001c0001 a0001c0010 a0014c0012	a0001c0001t0001 a0001c0010t0001 a0014c0012t0001 a0001c0001t0001 a0001c0010t0001 a0014c0012t0001	a0001c0001t0001g0034 a0001c0001t0001g0042 a0001c0001t0001g0065 others(6): Show a0001c0001t0001g0034 a0001c0001t0001g0042 a0001c0001t0001g0065 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0185 a0001c0010t0001g0174 a0014c0012t0001g0173	11	469	0.0235	-822	c.135 others(15): Show c.135+211_136-854del	ALOX15	ENSG00000161905.13	transcript	ENST00000293761.8	protein_coding	1/13			chr17	TogoVar
ALOX15_chr17_4625919_4646678	4640524	AACTGCCC others(815): Show AACTGCCCACCATAGGGAGGAAAAAAGGGAGGAGGGAGCGCGCCTTTCCA CCTTCCGTGCCCCGTCCCCTCACCATGGAGTCGCGGGGCCACCTGCTCCG TGCGCATTTTCTCTCTTCCTGGCTCCCTTTGCCCCGCTTTCTCGGAAGCT CGGAGCAAGGGCGTGGAGTGCGGGGAGCAGGGCTCCGCAGGTTCAAGAGG ACGCGGGCGGTCGGGGGCGGGACGGATATTGGGCAGGGACGCGGGAGATG CTCAGGGTCTAGAACTGACTGCGCCGGATTCTTGTTTAGAGGGAGGTGAA GAGAGGAAGGAGGCGCGGGTGACACCGGGGGAGGCAGGAGGAGAGGGCTG GGAGGTGGGGAGAGGGGAGGACCTCATCCGGGCATGTTGCTTTGACGTTC CCTGAGACAGACATCCGGATTTGGGGATCTGGGAGAGAGCTAGAGCAGTG ATGGGAATTTGGGCTTTCGCGGAAGAAAAAAAGTTAACAGGACCGGGTAG AACACCCGGTAGATGTGACATGAGATATGACGGGAGGTGGGTCGGGAAAT CGAGAGCGTTCTCCTGTCTTGACTCCCCATCCCTTCCCTCTCACCACCCA CTCCACCCCAGGTGATAAAGCCTGAAAGGTAGAGATCCAACAGCGCTAGC GGTTGAAACGGTTTTTAAAATAGAGAAAGCGAGAGGACCGACGGCGGCTC CAGTGACTGCTGAGTTTCCAGACAAGGGAGCTTTGTGCAATGAGGGGCGC ACAGGAGCATGCCCTCAATTCCAAGGAGATCGGGTAGCGGCAACATTTAT TGAGCGCTTACTGTGTGCCACCG	A A	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	470	0.0021	-822	c.135 others(15): Show c.135+171_136-894del	ALOX15	ENSG00000161905.13	transcript	ENST00000293761.8	protein_coding	1/13			chr17	TogoVar
CREB3L2_chr7_137869979_138007086	137888261	AGCACCAT others(815): Show AGCACCATTTTCTTTAAAAGCATTTTGTATGTTTACTTAATGCTGAGAAA TACTCAACAGCATAATTACTCTAAATTCTACTTAAAGAAAGTTTGCAACT AAATGGTTCTATGATGCAGCACCTTTCCTTCCTCATGAAACTTTTTCTCT GTTCTCCCAGGACTTCCCCAGAAAATTCCCTTCCTACCCAACAGCACAGC TGCCTTTTCCTTCTGCACTGCCACTTCCTGAGTGTGCATTCATTCTCACA GCGAGATTTCACTGGCCGAAGCATATATTTGACTCTCTATCACCTGTAAT GCCAGCCCCAAAGCCCTTGCTGGGTTCTCCCTGCTGATATTTCTTCAAGT CCTTGGGCAAATTTCCAGGTAAGCCCACAGAAAAGACCACATGGCTCAAA CCCTTTCCTCTTATTGCCAACCACTCTCTATGGTAGGAATGGGTCTCTCC TTCCTGCTAAGCTATGAAAAGCGGTCTCCTGTTCCCCTGGCCTGCTCAAG AGCTACTTCTGTAAGTGACAGCTGCCACTTTTCCTGGGCACCTCAGTTTT CCACTGGGCGCTCCTGCTGCCTGTAAGCTGGTGGCCGCAAGGTGCTGAAG TTTAGCTATGCTCTGGGCATGAGGGGGTAAGGTTTCTCCATCCAGGCTTC AGTTAGTACCTTTCCAGATGGTACCAAAGCATGTTACTTTTGCTCCAAAG TCTTAAGCTGTTTTGAAAGGGGAATGACCACTTCCATTTTTTACCAACAA TCCCTATTGACCAGCAGCCAGCCCGTACTTCCTCCCTGCCCATCCCCTAC CCCTTGCCTAGTCCTTAGAGCAT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	286	0.0035	-822	c.104 others(19): Show c.1044-3581_1044-2760del	CREB3L2	ENSG00000182158.16	transcript	ENST00000330387.11	protein_coding	8/11			chr7	TogoVar
DPH7_chr9_137549444_137583925	137565244	GGGGTGAC others(815): Show GGGGTGACTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTG TGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTG ACTCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAG GAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGATGACTC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAG GAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTG TCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAG CTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTG TGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGAC TCTGTCTGTGAGGAAGCTCCCCT	G G	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0253 a0001c0001t0002g0253	1	334	0.0030	-822	c.641 others(14): Show c.641-912_641-91del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137565484	TGTCTGTG others(815): Show TGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGATGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTC TGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCC GGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAG CTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTG ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTC TGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTG GGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCTGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	338	0.0030	-822	c.641 others(16): Show c.641-1152_641-331del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
EIF3CL_chr16_28374715_28408841	28405960	TTTTATTC others(815): Show TTTTATTCAATAAATACAGTCAATCCTCCATACAGGTGGGTTCCACATCT GGAACGAAATGTCAATCAAAAATAACAGTATTCACTGGATTTGAAACCCA TGTATACCAAGGGCCCAAATTTTGTAACTACAGGTTCCACAGGGGCAACT GCGGGACTTGAGTATGTACAGGTTTTGGTATCTCCCAGGAATCCTAGAAC CAATCCCTTGAGGATACCAAGAAATGACTAGATAGAGACAGAAAGGATAT AGATAGATGTATTGTATGTGTGTATGTATATATATATGTGTGTGTGTATA TATATATATTCAATATATGTATATGAATTATATAGATCAGGGTATGTGTG TGTGTGTGTGTGCGTCTACCTGGAACATATCTGTCTCTACCATTGTTTCC TGCATCTTATTTCATTATTCATCATATATCTTGCAGCTCATTCTGTATCA GTGCATATGGCTCTGTCTCATTCTCTTTTTTTTTGTTTGGTTTTTGAGAC AGAGTCTTGCTCTGTCGCCTAGGCTGGACATAATCTTGGCTCACTGCAAC CTCCGCCTCCTAGGTTCAAGCGATACTTCTGCCTCAGCCTCCTGAGTAGC TGGGATCACAGGTGCCTGCCACCACACCTAATTTTTGTACTTTTAGTAGA GATGAGATCTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTCAA GTGGTCCGCCTGCCTTTGCTTCCCAAAGTGCTGGGATTAAAGGCATGAGC CACCACACCCAGCCTGATTGCCTTTTAAAAGTATTCATAATAGGCTGGGT GTGGTGGCTCACACCCGTAATTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0095 a0002c0002t0001g0095	1	172	0.0058	-822	c.-30 others(11): Show c.-3026_-2205del	EIF3CL	ENSG00000205609.13	transcript	ENST00000380876.5	protein_coding		2120		chr16	TogoVar
ASMT_chrX_1610059_1648081	1637297	TCATGAGG others(814): Show TCATGAGGATGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAG TGTCCTGTGAGATCCATCCCTCCTGATGCTTCACGAGGACGTGGGCACAG CCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCACCCA TCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGG ACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAG GATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCC TGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCT GTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATC CTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGAC AGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGAT GTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTG TGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGT GTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCT GATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAG TGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGT GGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTG AGGTCCATCCATCCTGATGGCA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01517.hp2 HG00735.hp2 HG01517.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0156 a0002c0002t0002g0191 a0001c0001t0002g0156 a0002c0002t0002g0191	2	215	0.0093	-821	c.910 others(16): Show c.910+766_910+1586del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
DCBLD2_chr3_98790941_98906695	98836796	GGACGGGG others(814): Show GGACGGGGTGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGG AGGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGGCTGACCCCCCCCATCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCCGACACCCCCACCTCCCTCCCAGACGGGGTGGCTGGCCGGGCAGGG GGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCCGACACCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCAGGGGG CCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC CGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGTGGCTGGCCGGGCAGGGGGGCTGACACCCCCACCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGATGGG GCAGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG CAGAGGCGCCCCTCACCTCCCA	G G	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0318 a0001c0003t0003g0318	1	328	0.0030	-821	c.571 others(19): Show c.571+11844_572-11431del	DCBLD2	ENSG00000057019.16	transcript	ENST00000326840.11	protein_coding	3/15			chr3	TogoVar
GAL3ST2_chr2_241771822_241809287	241805503	GACCTCCG others(814): Show GACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCC CCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCA GGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGC CACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTC CCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGG AACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAG GCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCC TCCCCCCTCAGCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAG CCCAGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCA CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGA CCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGC CACCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCA GCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTT CCCTCCCCCCTCAGCCCAGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	284	0.0035	-821	c.13 others(11): Show c.1338_*2158del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1217		chr2	TogoVar
GLOD4_chr17_754330_787280	764751	GTAATCCC others(814): Show GTAATCCCAGCCCTTTGGGAGGCCAAGGTGGGTGGATCACAAGGTCAGGA GATCGAGACCATCCTGGCTAACACGGTGAAACCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGCGAGGTGGCAGGTGCCTGTAGTCCCAGCTACTCG GTAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCAGAGATTGTACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTC CGTCTCAAAAAAAAACAAAAAACAAAAAACAAAAAAAGCCATGGTGAGTA AAAGCAGCCAGGCACAAAAGGAAAGAAAATACTGAATGACTCCATTTGTA TGAAGTCCAAGAACGAACTCACCTACAGTGACAGAAGTCAGAATAGCAGC TGATCTGGGAGATGAAGGTGCCAACTCACTGGAGATGGGCATGAGGGAAC TTCCTGGGAAAATGGTCTGTATTCTGAGTAGTGGTTGTATGAGTAAACAC AACCGTCAAAACACATTTAAATTCTACCTAAATTATGCCTCATCAACAAC AACCACCTGTCTGAGCTGAGGAAGGAGTTAAAAACTGGAAGTGAGGAGGC TGGAGCCAGGATGATGGTTACGTTCAGGGCAGAGGTAAGGAGAGGTCGCA GGTAAGCTCTCATCAGAGTGGAGGAAGAATGCAGAATGGGAAAAACAGCA AAGTAGGGCTATGGGTATAAAAACACTTTGGGATGAGACACAGAAAGAGG TGCCCGTGTCTGAGGAGAAACTGTCAGGAAGATGAAAATGGTAGGATGGC CAGGCGCAGTGGCTCACGCCTA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp1 HG00558.hp2 others(41): Show HG00140.hp1 HG00438.hp1 HG00558.hp2 HG00609.hp2 HG01099.hp1 HG01928.hp1 HG01952.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp2 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02135.hp1 HG02165.hp1 HG02165.hp2 HG02293.hp1 HG02300.hp2 HG02523.hp2 HG03491.hp1 HG03704.hp2 HG03831.hp1 HG03942.hp2 NA18612.hp2 NA18940.hp1 NA18953.hp2 NA18965.hp1 NA18966.hp2 NA18988.hp1 NA18993.hp1 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19005.hp2 NA19006.hp1 NA19010.hp2 NA19054.hp2 NA19078.hp2 NA19087.hp1 NA19088.hp1 NA19091.hp2 NA20905.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0007 a0006c0009 a0001c0001 a0001c0007 a0006c0009	a0001c0001t0001 a0001c0007t0001 a0006c0009t0001 a0001c0001t0001 a0001c0007t0001 a0006c0009t0001	a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0012 others(22): Show a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0081 a0001c0001t0001g0085 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0247 a0001c0007t0001g0094 a0006c0009t0001g0088	44	418	0.1053	-821	c.831 others(17): Show c.831+4297_832-4514del	GLOD4	ENSG00000167699.14	transcript	ENST00000301329.11	protein_coding	8/8			chr17	TogoVar
NEU4_chr2_241804193_241822413	241805503	GACCTCCG others(814): Show GACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCC CCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCA GGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGC CACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTC CCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGG AACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAG GCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCC TCCCCCCTCAGCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAG CCCAGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCA CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGA CCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGC CACCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCA GCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTT CCCTCCCCCCTCAGCCCAGGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0016 a0001c0002t0001g0016	1	297	0.0034	-821	c.-37 others(11): Show c.-3774_-2954del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3689		chr2	TogoVar
PANK2_chr20_3884387_3934887	3914036	GCCTTGGC others(814): Show GCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTG GCCTGCACATATATTTCTAATTCTATTGGGTATATACCTGAGAGTAGAAT TGCTGAGTCATATGGTCACTTAATGTTTAATCTTTTGAGGAACTGCTACA CTGTTTTCCAAAGTGGCAGTCCCATTTTACAATCTTAGCAGTTTATGAGC GTTTATATTTCTTGTCAACATTTGTTATTATCTGTCTTCTTGGTTTTAGT TGTCTTAATAGGAGTGAAGTGATATCTTGTAGCGTTTTTATTTTTTAAGA GGCAGGGTCTCGCCCTGTTGCCCACATGAGAGTGCAGTGTTGCGATCATA ACTGGCTGCAGCCTGTGTCTCCTGGGCTCAGGTGTTTCTCCTGCCTCAGT CTCCTGAGTCACTAGGACTACAGCTGTGCACTGCCTTGCCTAATTTTTTT TTTGTAGAGATAGGGTCTTGCTATGTTGCCTAGGCTGTCCTGGCCTCAAG TGATCCTCCCACCTTGGCTTCCCAACATGTTGGGATTACAGGTGTGAGCC ATCACTCCTGGCTGAACATTTTTTTTGTGTGTGTGGCAGGGTCTCTCTCT GTTGCCCAGGCTGGAGTGCAGTGACACCATCTTATCTCACTGAAACCTCT ACCTCCTGGGTTTTAGTGATTCTTCTGCTTCACCTCGCAAGTAGCTGGGA TTACAGGCACACCTGTAAATTATGCCAACATGCCTGGCTAATTTCTGTAA TTTTAGTAGAGATGGGGTTTGGCCATGTTGGCCAGGCTGGTCTCGAGCTC CTGACCTCAAGTGATCCACCCA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01099.hp2 HG00140.hp1 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0017 a0001c0001t0040g0017	2	420	0.0048	-821	c.108 others(19): Show c.1082+1434_1083-2039del	PANK2	ENSG00000125779.24	transcript	ENST00000610179.7	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
ADARB2_chr10_1172313_1742525	1396653	TCCTCTCC others(813): Show TCCTCTCCCCTCCCGAGTGCAGGCTTCCTGGGTCACCGTCCGTCTCTCCC CTCCCGAGCGGAGGCTTCCTGGGTCACCGTCCTCCTCTCCCCTCCCGAGT GCAGGCTTCCTGGGTCACTGTCCTCCTCTCCCCTCCCGAGTGGAGGCTTC CTGGGTCACCGTCCTCCTCTCCCCTCCCGAGTGGAGGCTTCCTGGGTCAC CATCAGCCTCTCCCCTCCCGAGTGCAGGCTTCCTGGGTCACCGTCCGTCT CTCCCCTCCCGAGTGCAGGCTTCCTGGGTCACCGTCCGTCTCTCCCCTCC CGAGTGGAGGCTTCCTGGGTCACCATCAGCCTCTCCCCTCCCGAGTGGAG GCTTCCTGGGTCACCATCAGCCTCTCCCCTCCCGAGTGGAGGCTTCCTGG GTCACCGTCCGTCTCTCCCCTCCCGAGCGCAGGCTTCCTGGGTCACCATC AGCCTCTCCCCTCCCGAGTGGAGGCTTCCTGGGTCACCGTCCGTCTCTCC CCTCCCGAGCGCAGGCTTCCTGGGTCACCATCAGTCTCTCCCCTCCCGAG TGGAGGCTTCCTGGGTCACCGTCCGTCTCTCCCCTCCCGAGCGCAGGCTT CCTGGGTCACCATCAGCCTCTCCCCTCCCGAGTGCAGGCTTCCTGGGTCA CCATCAGTCTCTCCCCTCCCGAGTGGAGGCTTCCTGGGTCACCATCAGCC TCTCCCCTCCCGAGTGGAGGCTTCCTGGGTCACCATCAGCCTCTCCCCTC CCGAGTGGAGGCTTCCTGGGTCACCGTCCGTCTCTCCCCTCCCGAGCGCA GGCTTCCTGGGTCACCATCAG	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0038 a0002c0002t0038	a0002c0002t0038g0048 a0002c0002t0038g0048	1	106	0.0094	-820	c.101 others(19): Show c.101-18313_101-17494del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
CBX1_chr17_48065059_48106478	48089162	GTGATCTC others(813): Show GTGATCTCGGCTCACTGAAAGCTCCACCTCCCAGGTTCACGCCATTCTCC TGCCTCAGCCTCCCCAGTAGCTGGGACTACATGTGCCTGCCACCACGCCC GGCTAATTTTTTTGTATTTTTAGTAGAGAGAGGGTTTCACTGTGTTAGCC AGGATGGTCTCTATCTCCTGACCTCGTGATCCGCCCATCTCGGCCTCCAA CAGTGCTGGAATTACAGGCATGAGCCACCGCGCCTGGCCAGGCATCTGCA TCTTTCAAAGCTCCACAGGTGATTTTGATGAACATTCTTGGATAAAAGCT ACTGCTGTAAGAGGATTGGCAAAAACCATATTCCTCAAGTGAAATTACAC ACATTACTGCAGACATAAATCAGTTCTCGGGGCCCAGCACGGTGGCTCAC GCCTGTAACCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACCTGAGG TCAAGAGTTTGATACCAGCTTGACCTACATGGTGAGAGCCCATCCCTACT AAAAATACAAAATTAGCTGGGCGTGGTGGCACATATCTGTAATCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTT GTAGTGGGCCGAGATCGTGTCACTGCACTCTAGCCTGGGCAACAAGAGTG AAACTCTGTCTCTAAATAAATAAATAAATGGCAAAAGGAATTTACCTTCC AAGGAGTAAAGAAAGGAAGTAAATTCTGGATACAAACAGAAAATTTTAAC GAAATTTATTTGTGACTTTTTTTTTTTGAGATGGAGTCTGGCTCTGTCAC CCAGGCTGGAGTGCAGTGGCA	G G	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG01256.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0055 a0001c0001t0002g0056	2	394	0.0051	-820	c.-38 others(19): Show c.-38+11286_-38+12105del	CBX1	ENSG00000108468.15	transcript	ENST00000225603.9	protein_coding	1/4			chr17	TogoVar
SGTA_chr19_2749715_2788273	2773162	TCCGAGGG others(813): Show TCCGAGGGCAGAGGTGGGTGACGCGGCCACACGGCAGGGACACCGAGGGC AGAGATGGGTGACGCGGCCACACGGCAGGGACACCGAGGGCAGAGATGGG TGACGCGGCCACAGGGCAGGGACACCGAGGGCAGAGATGGGTGACGCGGC CACACGGCGGGGACACCGAGGGCAGAGGTGGGTGACGCGGCCACACGGCA GGGACACCGAGGGCAGAGGTGGGTGACGCGGCCACACGGCAGGGACTCCG AGGGCAGAGGTGGGTGACGCGGCCACACGGCAGGGACACCGAGGGCAGAG ATGGGTGACGCGGCCACACGGCAGGGACACCGAGGGCAGAGGTGGGTGAC GCGGCCACAGGGCAGGGACACCGAGGGCAGAGGTGGGTGACGCGGCCACA CGGCAGGGACACCGAGGGCAGAGGTGGGTGACACGGCCACACGGCAGGGA CTCCGAGGGCAGAGATGGGTGACGCGGCCACAGGGCAGGGACACCGAGGG CAGAGATGGGTGACGCGGCCACACGGCAGGGACACCGAGGGCAGAGATGG GTGACGCGGCCACACGGCGGGGACACCGAGGGCAGAGGTGGGTGACGCGG CCACACGGCGGGGACACCGAGGGCAGAGGTGGGTGACGCGGCCACACGGC AGGGACACCGAGGGCAGAGGTGGGTGACGCGGCCACACGGCAGGGACACC GAGGGCAGAGGTGGGTGACACGGCCACACGGCAGGGACTCCGAGGGCAGA GATGGGTGACGCGGCCACACGGCAGGGACTCCGAGGGCAGAGATGGGTGA CGCGGCCACAGGGCAGGGACA	T T	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0161 a0001c0002t0002g0161	1	324	0.0031	-820	c.-23 others(17): Show c.-23-4891_-23-4072del	SGTA	ENSG00000104969.11	transcript	ENST00000221566.7	protein_coding	1/11			chr19	TogoVar
CALN1_chr7_71774491_72417338	72291997	ATCTCAAA others(812): Show ATCTCAAAAAAAAAAAAAAGAATTTCAACATATGACTTTTGGGGAAACAC AAACATTTAGTCCATGAATAGTAAGTTGCTACTAGGTTGTACAAGAATAA TTGCAGTTATTGCCATTACTCTTGCACCAACCATTACTTTCAATGGCAAA AATCGCAATTACTCTTGCACCAACCCAATATAACAGAATATGTGGCTTAA ACAACAAACATTTATTTCTCATGGTTCTCAAGCCTGGAAGGCCAAAATCA GGGTGCCAGCTTGATCAAATTCTTGATGAAGACCCTCTTCCTGGTCTACA GGGGGCCCTCTTCTCATTGTGTCCCCATGAGGTGGACAGCAGAGAGCGCT CTGGTCTCTTTGTCCCCTTATAAGAGGACATTCGTGAGGATTCCACCTCA TTAGTGAATGAGGCCTCCACCTCCCACTCATTAGCAGATAGGGCCTTTGA GAGGTGATTGGGTCACTATATCATGACCCAATCACCTCTCAAAGGCCATA TCTGCTAATACCATCACATTGGCAATAAGAATTTCAACATATAGTCAGGT GCAGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTG GATCACTTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACATGGTGAAAT CCTGTCTCTACTAAAAATATAAAAATTAGCCAGGCATGGTGGCGCATGCT TGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTG GGAGGTGAAGGTTACAGTGAGCCGAGATCGCGCCACTGCACTCCAGCTTG GGCAACAGAACAATACTCTG	A A	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA19240.hp1 HG03098.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0033 a0001c0001t0005 a0001c0001t0033	a0001c0001t0005g0006 a0001c0001t0033g0115 a0001c0001t0005g0006 a0001c0001t0033g0115	2	142	0.0141	-819	c.120 others(19): Show c.120-14006_120-13188del	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	2/6			chr7	TogoVar
CDH13_chr16_82621969_83805640	83657852	CAGGTCCC others(812): Show CAGGTCCCATATCCTCACCAGCAAGGTCCCATATCATCACCACCAGGTCC CATATCCTCACCAGCAAGGTCCCATGTCCCCACCACCAGGTCCCATATCC TCACCAGCAAGGTCTCATGTCCTCACCACCAGGTCCCATATCCTCACCAG CAAGGTCCCATATCCTCACCACCAGGTCCCATGTCCTCACCAGCAAGGTC CCATATCCTCACCACCAGGTGCCATGTCCTCACCAGCAAGGTCCCATATC CTCACCACCAGGTGCCATATCCTCACCAGCAAGGTCTCATGTCCTCACCA CCAGGTCCCATGTCCTCACCAGCAAGGTCCCATATCCTCACCAGCAAGGT CTCATGTCCTCACCACCAGGTCCCATATCCTCACCAGCAAGGTCCCATGT CCTCACCACCAGGTCCCGTATCCTCACCAGCAAGGTCTCATGTCCTCACC ACCAGGTCCCGTATCCTCACCAGCAAGGTCCCATATCCTCACCAGCAAGG TCCCATGTCCTCACCACCAGGTCCCGTATCCTCACCAGCAAGGTCTCATG TCCTCACCACCAGGTCCCGTATCCTCAGCAGCAAGGTCCCATATCCTCAC CAGCAAGGTCCCATGTCCTCACCACCAGGTCCCGTATCCTCACCAGCAAG GTCCCATGTCCTCACCACCAGGTCCCGTATCCTCACCAGCAAGGTCCCAT ATCCTCACCACCAGGTCCCATGTCCTCACCAGCAAGGTCCCATATCCTCA CCACCAGGTCCCATGTCCTCACCAGCAAGGTCTCATGTCCTCACCACCAG GTCCCATATCCTCACCAGCA	C C	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0047 a0001c0001t0008g0047	1	110	0.0091	-819	c.110 others(21): Show c.1102-12918_1102-12100del	CDH13	ENSG00000140945.17	transcript	ENST00000567109.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CEP72_chr5_607340_658553	630202	GCCCAGTC others(812): Show GCCCAGTCCTGGTGGGGTTCTGTCCAGCGCCGGGATTTGGCCCAGTCCTG GTGGGGTTCTGTCCAGCGCCGGGATTTGGCCCAGTCCTGGTGGGGTTCTG TCCAGTGCCGGGATTTGACCCAGTCCTGGTGGGGTTCTGTCCAGTGCCGG GATTTGGCCCAGTCCTGGTGGGGTTCTGTCCAGTGCCGGGATTTGACCCA AGTCCTGGTGGGGTTCTGTCCAGTGCCGGGATTTGACCCAGTCCTGGTGG GGTTCTGTCCAGTGCCGGGATTTGGCCCAGTCCTGGTGGGGTTCTGTCCA GTGCCGGGATTTGACCCAGTCCTGGTGGGGTTCTGTCCAGTGCCGGGATT TGGCCCAGTCCTGGTGGGGTTCTGTCCAGCGCCGGGATTTGGCCCAGTCC TGGTGGGGTTCTGTCCAGCGCCGGGATTTGGCCCAGTCCTGGTGGGGTTC TGTCCAGTGCCGGGATTTGACCCAGTCCTGGTGGGGTTCTGTCCAGTGCC GGGATTTGGCCCAGTCCTGGTGGGGTTCTGTCCAGTGCCGGGATTTAGAC CAGTCCTGGTGGGGTTCTGTCCAGTGCCGGGATTTGACCCAGTCCTGGTG GGGTTCTATCCAGTGCCGGGATTTGGCCCAGTCCTGGTGGGGTTCTGTCC AGTGCCGGGATTTGACCCAGTCCTGGTGGGGTTCTGTCCAGTGCCGGGAT TTAGACCAGTCCTGGTGGGGTTCTGTCCAGTGCCGGGATTTGGCCCAGTC CTGGTGGGGTTCTGTCCAGTGCCGGGATTTGACCCAGTCCTGGTGGGGTT CTGTCCAGTGCTGGATTTGA	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01070.hp1 HG01192.hp1 others(13): Show HG01069.hp1 HG01070.hp1 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp2 HG01517.hp1 HG02015.hp1 HG02109.hp1 HG02109.hp2 HG02258.hp2 HG02451.hp1 HG03688.hp2 HG03834.hp1 NA18950.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(12): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0028 a0001c0006t0001g0015 a0001c0006t0001g0027	16	90	0.1778	-819	c.513 others(17): Show c.513-3462_513-2644del	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr5	TogoVar

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