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
AHRR_chr5_316714_443285	358774	TGGAGGCC others(551): Show TGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGGGGAAG AGCGCCCGGGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAG CGACTGGGGAAGAGCGCCCGGGAGTGGAGGCCCTCAGTCACGGAGTCCAC CCGGGCAGTCAGCGACTGGGGAAGAGCGCCCGCGAGTGGAGGCCCTCAGT CACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGCGAGTG GAGGCCGTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAG CGCCCGCGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCG ACTGAGGAAGAGCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGTCCACCC GGGCAGTCAGCGACTGAGGAAGAGCGCCCGGGAGTGGAGGCCCTCAGTCA CGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGCGAGTGGA GGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGGGGAAGAGCG CCCGCGAGG	T T	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0004 a0003c0004t0004g0004	1	266	0.0038	-558	c.244 others(17): Show c.244+4907_244+5464del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
CCND2_chr12_4268762_4310353	4279606	CCACAATT others(551): Show CCACAATTGATACATCATTCCTACTGGCCCATTTGTTTTGTAGTTTCCTA ATAAACCAAAGGCAGTGGTTTGCTGTTGTCTTATTAAACAGCCTTGGCCA GTGTCTACTGGTTTTTTGTTTTTTTTTTTCTTGGTAGTGGCCATGGCAGA GACCCTGGAACCTTACTCATCCAAGGGAGAGATGTCAGGAGTTCATGTTT TGACAATCAGAAACCTTAGGTAAAAAGCTGATCACTTGGGAAGACCTTTC GGTGTGCTTCACCTCAAATTTGCCAAGAGTAGTTAAATCGCTAGGTGGAC TCACGTGGTAACTTTTTTCAGGATGTTGTTACATGTTACTGGTGAGTTCT ACGGAACGGATGATTATATAACGTACGATGTAGTGCATATGCCCTGTGCT CACAGTCAAAAAGTCAGGCTTTGCTGCATATCAGTGAGTGACCTTTAATT GGCTGCTTAACCTCTCTGAACCCGAGCTTCTTCATCTCCAAAACAAGCCT ATTGATACATCATCCTACAGCCTTTTCAGAGCAGCTAGGAAAATTAAAAT CAGAAAGAG	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00621.hp1 others(34): Show HG00408.hp2 HG00423.hp2 HG00621.hp1 HG00735.hp2 HG02027.hp1 HG02056.hp1 HG02083.hp2 HG02132.hp1 HG02165.hp2 HG02523.hp2 HG03017.hp1 HG03490.hp2 HG03492.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18939.hp1 NA18940.hp2 NA18943.hp2 NA18947.hp2 NA18954.hp1 NA18955.hp1 NA18959.hp2 NA18966.hp1 NA18977.hp2 NA18981.hp1 NA18989.hp2 NA18990.hp1 NA18991.hp1 NA18994.hp1 NA19005.hp2 NA19057.hp1 NA19065.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0018 a0001c0001t0030 a0001c0001t0032 a0001c0001t0053 a0001c0001t0060 a0001c0001t0078 a0001c0001t0079 a0001c0001t0082 a0001c0001t0083	a0001c0001t0001g0181 a0001c0001t0001g0196 a0001c0001t0001g0319 others(32): Show a0001c0001t0001g0181 a0001c0001t0001g0196 a0001c0001t0001g0319 a0001c0001t0002g0039 a0001c0001t0002g0180 a0001c0001t0002g0190 a0001c0001t0002g0193 a0001c0001t0003g0037 a0001c0001t0003g0183 a0001c0001t0003g0191 a0001c0001t0003g0195 a0001c0001t0006g0038 a0001c0001t0006g0040 a0001c0001t0006g0192 a0001c0001t0006g0198 a0001c0001t0006g0335 a0001c0001t0006g0345 a0001c0001t0006g0366 a0001c0001t0008g0194 a0001c0001t0011g0197 a0001c0001t0012g0320 a0001c0001t0014g0184 a0001c0001t0014g0185 a0001c0001t0014g0187 a0001c0001t0014g0189 a0001c0001t0018g0093 a0001c0001t0030g0040 a0001c0001t0030g0182 a0001c0001t0032g0059 a0001c0001t0053g0038 a0001c0001t0060g0061 a0001c0001t0078g0186 a0001c0001t0079g0188 a0001c0001t0082g0039 a0001c0001t0083g0344	37	458	0.0808	-558	c.571 others(16): Show c.571+688_571+1245del	CCND2	ENSG00000118971.9	transcript	ENST00000261254.8	protein_coding	3/4			chr12	TogoVar
DCC_chr18_52335197_53540899	53085986	CTTCTCCT others(551): Show CTTCTCCTTCTCCTTCTTCTCCTTCTCCTTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCTTCTCCTTCTCCTTCTCCCTCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCTTCCTCTTCTCTTCCTCTTCTCTTCTTCTTCT TTTCTTCTTCTTCTTTTCTTCTTTCCTTCCCTTCTTCTTCTTCCGTTCTT CTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTC TTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCT TCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCTTCCTTTCTT CTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCTTCCTTTCTTC TTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCT TCTTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTTCTTCTTCCTTCTTCT TCTTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0100 a0001c0003t0012g0100	1	112	0.0089	-558	c.126 others(21): Show c.1261+19825_1261+20382del	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	7/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DPH7_chr9_137549444_137583925	137565684	TGGATGAC others(551): Show TGGATGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTC TGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCC GGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAG CTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTG ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTC TGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTG GGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCG	T T	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0291 a0001c0001t0002g0291	1	309	0.0032	-558	c.641 others(16): Show c.641-1088_641-531del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137567966	TCTGTCTG others(551): Show TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTC TGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTG ACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGAC TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02886.hp2 HG02895.hp2 others(4): Show HG01123.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02965.hp1 HG02970.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0021 a0001c0001t0002g0258 a0001c0001t0002g0259 others(3): Show a0001c0001t0002g0021 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0302 a0001c0001t0002g0312 a0001c0001t0006g0313	7	337	0.0208	-558	c.641 others(17): Show c.641-3370_641-2813del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
GTF2F1_chr19_6374572_6398164	6387606	GCCCCCCC others(551): Show GCCCCCCCGTGTCCCCCCGGGGCCTGCCTCCTTTATGGCACTTGCCATAG GAGGAAGACCAAGAAATGCCCATGAGGCCTGGGCAGGCCCTTCAACCACC TGGGCCTCGTCAATTTCCACATCTGGGGAACAGGGCCGGCGCACCTACCC TGCAAAGTGCTGGGCGTGTGCACATCGGGATCATTTCTGGAAAGACTGTG TGAGATTATCTCAGGAGAGCCCAACCCTGCAGTCAAACTGTCTACATTTG CCTCCAGCTCTGCTATCTGTGGGCCACACCCGGGAAACTGAGGAGCCAAG TGAGAAGATGGGGCGGGAAGGCATGGCCAAATTTTTTTTTTTGAGATGGA GTCTCGCTCTGGCACCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCAC TGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCATGCCTCAGCCTCCCG AGTAGCTGGGATTACAGGTGTCTGCCACCACACCCAGCTAATTTTTGTAG TTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTAGTTTCGAACCC CTGACCCCA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00733.hp2 HG02148.hp2 others(2): Show HG00280.hp1 HG00733.hp2 HG02148.hp2 HG02300.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0147 a0001c0001t0007g0148 a0001c0001t0007g0149 others(2): Show a0001c0001t0007g0147 a0001c0001t0007g0148 a0001c0001t0007g0149 a0001c0001t0007g0150 a0001c0001t0007g0151	5	374	0.0134	-558	c.327 others(14): Show c.327-605_327-48del	GTF2F1	ENSG00000125651.14	transcript	ENST00000394456.10	protein_coding	4/12			chr19	TogoVar
IRF2BP1_chr19_45878608_45891141	45879954	GCCACTGC others(551): Show GCCACTGCACTCCAGCCTGGGTGACAGAGAGCAAGACTCTGTCTCAAAAA ATATAAAAAACAAAATTCAAAGTCCTTATCACAGTGTACAGGTCCTCTTA CTGCTCCCCCACCATCCCTCTGATTCAATTTCCTACTACTGTCCCCCAGC ACTGGTCACCTGGTTGCTTCTGGGACAAACCAAGCAGGCTCCCACCTCAG GACCTTTGCAGGTGCTATTTACACAGATTTCTGCTGGCTTACTCCCTCCC CTCCTTCAGTTCTTAGTGTCACGTGCTCAGTGAGCTCTTCCCTACATCCC TTTCTAAAATAGCAACCCCAACTGGACACGGTATCTCATGCCTGTAATCC CAGCACTTTGGGAGGCTGAAGCAGGCAGATCACATGAGGTCAGGAGTTTG AGATCAGCCTGGCCAACATGGTCAAACCCCATCTCTACTAAAGATACAAA AATTAGCCAGGCATGGTGGTGCGTGCCTCTAGTCCCAGCTACCCGGGAGG CTGAGGCAGGAGAATTGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCT GGGATCGCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0000 a0002c0005t0001g0000	1	414	0.0024	-558	c.35 others(11): Show c.3508_*4065del	IRF2BP1	ENSG00000170604.5	transcript	ENST00000302165.5	protein_coding		3653		chr19	TogoVar
LYPD8_chr1_248734415_248760759	248747462	GCCCGCAC others(551): Show GCCCGCACGGCCAGCACCCACCCAGGGCATCCCCCGCACGGCCAGCACCC ACCCAGGGCATCGCCCGCACGGCCAGCACCCACCCAGGGCATCCCCCGCA CGGCCAGCACCCACCCAGGGCATCGCCCGCACGGCCAGCACCCACCCAGG GCATCCCCCGCACGGCCAGCACCCACCCAGGGCATCGCCCGCACGGCCAG CACCCACCCAGGGCATCCCCCGCACGGCCAGCACCCACCCAGGGCATCCC CCGCACGGCCAGCACCCACCCAGGGCATCGCCCGCACGGCCAGCACCCAC CCAGGGCATCGCCCGCACGGCCAGCACCCACCCAGGGCATCGCCCGCACG GCCAGCACCCACCCAGGGCATCCCCCGCACGGCCAGCACCCACCCAGGGC ATCCCCCGCACGGCCAGCACCCACCCAGGGCATCCCCCGCACGGCCAGCA CCCACCCAGGGCATCCCCCGCACGGCCAGCACCCACCCAGGGCATCCCCC GCACGGCCAGCACCCACCCAGGGCATCCCCCGCACGGCCAGCACCCACCC AGGGCATCC	G G	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0072	1	221	0.0045	-558	c.337 others(15): Show c.337+269_337+826del	LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	5/6			chr1	TogoVar
OTUD7A_chr15_31470398_31875673	31510830	AACATACA others(551): Show AACATACATATGTATATCTATATGTAACATATATGTATATCTATATGTAA CATATATGTATATCTATATGTAACATATATGTATATCTATATGTAACATA TATGTATATCTATATGTAACATATATGTATATCTATATGTAACATATGTA TATCTATATGTAACATATGTATATCTATATGTAACATACATGTATATCTA TATGTAACATACATGTATATCTATATGTAACATACATATATATGTATATC TATATGTAACATACATATGTATATCTATATGTAACATACATATGTATATC TATATGTAACATACATATGTATATCTATATGTAACATACATATGTATATC TATATGTAACACACATATGTATATCTATATGTAACACACATACATATGTA TATCTATATGTAACACACATACATATGTATATCTATATGTAACACACATA CATATGTATATCTATATGTAACACACATATATATGTATATCTATATGTAA CACACATATATATGTATATCTATATGTAACACACATATATATGTATATCT ATATGTAAC	A A	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0016 a0002c0005t0016	a0002c0005t0016g0240 a0002c0005t0016g0240	1	206	0.0049	-558	c.894 others(17): Show c.894-7570_894-7013del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31511095	TATGTATA others(551): Show TATGTATATCTATATGTAACATACATATGTATATCTATATGTAACATACA TATGTATATCTATATGTAACATACATATGTATATCTATATGTAACACACA TATGTATATCTATATGTAACACACATACATATGTATATCTATATGTAACA CACATACATATGTATATCTATATGTAACACACATACATATGTATATCTAT ATGTAACACACATATATATGTATATCTATATGTAACACACATATATATGT ATATCTATATGTAACACACATATATATGTATATCTATATGTAACACATAT ATATGTATATCTATATGTAACACACACATATATGTATATCTATATGTAAC ACACACATATATGTATATCTATATGTAACACACACATATATGTATATCTA TATGTAACACACACATATATGTATATCTATATGTAACACACACATATATG TATATCTATATGTAACACACACATATATGTATATCTATATGTAACACACA CATATATGTATATCTATATGTAACACACACATATATGTATATCTATATGT AACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02976.hp1 NA18906.hp2 others(4): Show HG02922.hp1 HG02976.hp1 NA18906.hp2 NA18989.hp1 NA18990.hp1 NA19083.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0012 a0001c0001t0013 others(1): Show a0001c0001t0004 a0001c0001t0012 a0001c0001t0013 a0001c0001t0056	a0001c0001t0004g0183 a0001c0001t0012g0006 a0001c0001t0012g0007 others(4): Show a0001c0001t0004g0183 a0001c0001t0012g0006 a0001c0001t0012g0007 a0001c0001t0012g0011 a0001c0001t0012g0018 a0001c0001t0013g0156 a0001c0001t0056g0044	7	199	0.0352	-558	c.894 others(17): Show c.894-7835_894-7278del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
PKP3_chr11_389209_409908	402027	CCCCGCTC others(551): Show CCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGGCTCCACTGACC CCGGCCCCGCTCACCCCGGACCCCGCTCACCCCCGACCCCCGGCCCCGCT CACCCCCGGCTCCACTGACCCCGGCCCCGCTCACCCCGACCCCGCTCACC CCAGACCCCCGGCCCCGCTCACCCCCGGCTCCACTGACCCCGGCCCCGCT CACCCCGGACCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGGCT CCACTGACCCCGGCCCCGCTCACCCCGGACCCCGCTCACCCCCGACCCCC GGCCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGGCTCCACTGA CCCCGGCCCCGCTCACCCCGGACCCCGCTCACCCCCGACCCCCGGCCCCG CTCACCCCCGGCTCCACTGACCCCGGCCCCGCTCACCCCGGACCCCGCTC ACCCCCGACCCCCGGCCCCGCTCACCCCCGGCTCCACTGACCCCGGCCCC GCTCACCCCGACCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGG CCCCGCTCA	C C	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0192 a0001c0008t0001g0192	1	214	0.0047	-558	c.173 others(18): Show c.1738-1047_1738-490del	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
RIPK1_chr6_3063494_3120187	3090792	AGCGCCTA others(551): Show AGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCACCTACCTGCCGCACC TAGTAACCGCAGAGTACCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAAC CGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCC GCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCG CGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTA GTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTAC CTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCG CAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGC ACCTAGTAACCGCAGAGTACCTACCTGCCGCACCTAGTAACCGCAGCGCG CCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGT AACCGCAGC	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA18906.hp2 HG02055.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0007 a0001c0002t0001 a0001c0002t0007	a0001c0002t0001g0100 a0001c0002t0007g0196 a0001c0002t0001g0100 a0001c0002t0007g0196	2	305	0.0066	-558	c.915 others(17): Show c.915+1169_915+1726del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3090854	AGTACCTA others(551): Show AGTACCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAAC CGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCC GCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGAG CGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTA GTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTAC CTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCG CAGAGTACCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGC ACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCG CCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGT AACCGCAGC	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG03471.hp2 HG01167.hp2 HG01169.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0124 a0001c0001t0009g0131 a0001c0001t0009g0132 a0001c0001t0009g0124 a0001c0001t0009g0131 a0001c0001t0009g0132	3	298	0.0101	-558	c.915 others(17): Show c.915+1199_915+1756del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3091629	AGCGCCTA others(551): Show AGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAAC CGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCC GCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGCG CGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTA GTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTAC CTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCG CAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGC ACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCG CCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGT AACCGCAGC	A A	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0329 a0001c0001t0015g0329	1	246	0.0041	-558	c.915 others(17): Show c.915+2003_915+2560del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3092581	GAACCGCA others(551): Show GAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACC TGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGC AGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCA CCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGC CTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTA ACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTG CCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAG CGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAAC CGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCC GCACCTAGT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp2 HG01069.hp2 others(26): Show HG00140.hp2 HG00423.hp2 HG01069.hp2 HG01070.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp2 HG01515.hp1 HG01516.hp2 HG01934.hp1 HG01975.hp2 HG01978.hp2 HG02132.hp1 HG02698.hp1 HG02922.hp2 HG03239.hp1 HG03834.hp2 HG04199.hp1 NA18941.hp2 NA18969.hp1 NA18980.hp2 NA18998.hp2 NA19000.hp1 NA19009.hp1 NA19010.hp2 NA19058.hp2 NA19064.hp2 NA19068.hp2 NA19090.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0006 a0001c0001 a0001c0002 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0002t0002 a0004c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0029 others(26): Show a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0029 a0001c0001t0001g0043 a0001c0001t0001g0048 a0001c0001t0001g0060 a0001c0001t0001g0096 a0001c0001t0001g0109 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0155 a0001c0001t0001g0184 a0001c0001t0001g0213 a0001c0001t0001g0248 a0001c0001t0001g0269 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0284 a0001c0001t0001g0299 a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0001t0001g0332 a0001c0001t0002g0297 a0001c0001t0005g0141 a0001c0001t0005g0145 a0001c0001t0005g0168 a0001c0001t0005g0272 a0001c0002t0002g0073 a0004c0006t0001g0091	29	254	0.1142	-558	c.915 others(17): Show c.915+3015_915+3572del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3092869	CGCGCCTA others(551): Show CGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAAC CGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCC GCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCG CGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTA GTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTAC CTGCCGCACCTCGGAACCGCAGAGCGCCTACCTGCCGCACCTAGGAACCG CAGAGCGCCTACCTGCCGCACCTAGGAACCGCAGAGCGCCTACCTGCCGC ACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGGAACCGCAGAGCG CCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGG AACCGCAGA	C C	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01993.hp2 HG02300.hp2 others(1): Show HG01361.hp2 HG01993.hp2 HG02300.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0089 a0001c0001t0001g0167 a0001c0001t0001g0201 others(1): Show a0001c0001t0001g0089 a0001c0001t0001g0167 a0001c0001t0001g0201 a0001c0001t0008g0311	4	327	0.0122	-558	c.915 others(17): Show c.915+3243_915+3800del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3093024	CGCGCCTA others(551): Show CGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAAC CGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCC GCACCTCGGAACCGCAGAGCGCCTACCTGCCGCACCTAGGAACCGCAGAG CGCCTACCTGCCGCACCTAGGAACCGCAGAGCGCCTACCTGCCGCACCTA GTAACCGCAGAGCGCCTACCTGCCGCACCTAGGAACCGCAGAGCGCCTAC CTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGGAACCG CAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGC ACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCG CCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGT AACCGCAGA	C C	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0209 a0001c0002t0001g0209	1	332	0.0030	-558	c.915 others(17): Show c.915+3553_915+4110del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168572085	CGTGCTCC others(551): Show CGTGCTCCCTGAACGCGATGTTCATTTCCTCCCCGCATCCCCGGGTGCCG GGACCAGGGCTGCGTGCTCCCTGAACGCGATGTTCATTTCCTCCCCGCAT CTCCGGGTGCCGGGACCAGGGCTGCGTGGTCCCTGAACGCGATGTTCACT TCCTCCCCGCATCCCCGGGTGCCGGGACCAGGGCTGCGTGCTCCCTGAAC GCAATGTTCACTTTCTCCCCGCATCCCCGGGTGCCGGGACCAGGGCTGTG TGCTCCCTGAACGCGATGTTCATTTCCTCCCCGCATCCCCGGGTGCCGGG ACCAGGGCTGCGTGCTCCCTGAACGCGATGTTCATTTCCTCCCCGCATCC CCGGGTGCTGGGACCAGGGCTGCGTGCTCCCTGAACGCGATGTTCACTTC CTCCCCGCATCCCCGGGTGCCGGGACCAGGGCTGCGTGCTCCCTGAACGC GATGTTCATTTCCTCCCCGCATCCCCGGGTGCTGGGACCAGGGCTGCGTG CTCCCTGAACGCGATGTTCACTTCCTCCCCGCATCCCCGGGTGCCGGGAC CAGGGCTGT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03490.hp2 HG03492.hp2 others(1): Show HG02559.hp2 HG03490.hp2 HG03492.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0004t0005 a0001c0001t0001 a0001c0001t0003 a0001c0004t0005	a0001c0001t0001g0170 a0001c0001t0003g0106 a0001c0001t0003g0107 others(1): Show a0001c0001t0001g0170 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0004t0005g0049	4	115	0.0348	-558	c.637 others(19): Show c.637+22930_637+23487del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMYD3_chr1_245744347_246512279	246251518	CGCCCGGC others(551): Show CGCCCGGCTTTAGTAGGTGCCGCGGACACTGTGCCCGGCTTTAGTAGGTG CCGCGGACACTGTGCCCGGCTTTAGTAGGTGCCGCGGACACTGTGCCCGG CTTTAGTAGGTGCCGCGGACACTGTGCCCGGCTTTAGTAGGTGCCTCGGA CACTGTGCCCGGCTTTAGTAGGTGCCGCGGACACTGTGCCCGGCTTTAGT AGGTGCCTCGGACACTGTGCCCGGCTTTAGTAGGTGCCGCGGACACTGTG CCCGGCTTTAGTAGGTGCCGCGGACACTGTGCCCGGCTTTAGTAGGTGCC GCGGACACTGTGCCCGGCTTTAGTAGGTGCCTCGGACACTGTGCCCGGCT TTAGTACGTGCCTCGGACACTGTGCCCGGCTTTAGTAGGTGCCTCGGACA CTGTGCCCGGCTTTAGTAGGTGCCTCGGACACTGTGCCCGGCTTTAGTAG GTGCCGCGGACACTGTGCCCGGCTTTAGTAGGTGCCTCGGACACTGTGCC CGGCTTTAGTAGGTGCCTCGGACACTGTGCCCGGCTTTAGTAGGTGCCGC GGACACTGT	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01981.hp2 HG02109.hp1 others(4): Show HG01175.hp2 HG01981.hp2 HG02109.hp1 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02895.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0009 others(1): Show a0001c0001 a0001c0002 a0001c0009 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0009t0001 a0002c0003t0001	a0001c0001t0001g0013 a0001c0001t0002g0063 a0001c0001t0002g0069 others(4): Show a0001c0001t0001g0013 a0001c0001t0002g0063 a0001c0001t0002g0069 a0001c0002t0001g0012 a0001c0002t0001g0066 a0001c0009t0001g0002 a0002c0003t0001g0105	7	141	0.0496	-558	c.531 others(19): Show c.531+75125_531+75682del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
TAF4_chr20_61969798_62070881	61970754	GGCATTCA others(551): Show GGCATTCAGCTTCATCACTGCATCACACACCAGGCAGACGTGCGTTCAAC ACTGGGTAGACGGGCATTCAGCTTCATCACTGCATCACACACCGGGCAGA CGTGCGTTCAACACTGGGTAGACGGGCATTCAGCTTCATCACTGCGTCAC ACACCGGGCAGACGTGCATTCAACACCGGTTAGACGGGCATTCAGCTTCA TCACTGCGTCACACACCGGGCAGACGTGCATTCAACACCGGTTAGACGTG CATTCAGCTTCATCACTGCATCACACACCGGGTAGACGTGCATTCAACAC TGGGTAGACGGGCATTCAGCTTCATCACTGCATCACACACCGGGCAGACG TGCGTTCAACACTGGGTAGACGTGCATTCAGCTTCATCACTGCATCACAC ACCGGGTAGACGTGCATTCAACACTGGGTAGACGTGCATTCAGCTTCATC ACTGCATCACACACCGGGTAGACGTGCATTCAACACTGGGTAGACGTGCA TTCAGCTTCATCACTGCGTCACACACCGGGCAGACGTGCATTCAACACTG GGTAGACGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	312	0.0032	-558	c.48 others(11): Show c.4856_*5413del	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding		4043		chr20	TogoVar
CDH4_chr20_61247261_61945617	61945060	CTTCTCAC others(550): Show CTTCTCACCGACGATGAGGAGCATTGCGACTGTATGCACCGTGGCCGCCC CTTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCC CTTCTCACCAACGATGAGGAGCATCGCGGCTGTCTGCACCATGGGAGCCC CTTCTCACTGACAATGAGGAGCATTCAGAGTGTCTACACCGTGGCCACGC CTTCTCACCGATGCTGAGGAGCACCGAGACTGTCTGCACTGTGGCCGCCC CTTCTCACCGACGACGAGGAGCACTGCGACCATCTGCACCGTGGCCGCCC CCTCTCACCGACGACGAGGAGCACTGCGACTGTCTGCACCGTGGCCGCCC CTTCTCACTGACGATGAGGAGCACTGCGACTGTCTGCACCGTGGCCGCCC TTTCTGACTGATGATAAGGAACATTGCGACTGTCTGCACCGTGGCTGCCC CTTCTCACCAACGCTGAGGAGCACTGCAACCATCTGCACCGTGGCCGCCC CTTCTCACCGATGATGAGGAACATTGAGACTGTCTGCCCCGTGGCTGCCC CTTCTCAC	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0003 a0003	a0003c0018 a0003c0018	a0003c0018t0043 a0003c0018t0043	a0003c0018t0043g0052 a0003c0018t0043g0052	1	106	0.0094	-557	c.81 others(11): Show c.8118_*8674del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding		4444		chr20	TogoVar
FOXQ1_chr6_1307098_1319758	1319201	TGGTGGCG others(550): Show TGGTGGCGCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGG ATCACCTGAGTTAGGAAGTTCAAGACTAGCCTGACCAACATGGAGAAACC CCGTCACTACTAAAAATACAAAATTAGCCGGGCGCGGTGGCGCACGCCTG TAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGTTAGGA AGTTCAAGACTAGCCTGACCAACATGGAGAAACCCCGTCACTACTAAAAA TACAAAATTAGCCGGGCAGCGGTGGCGCACGCCTGTAATCCCAGCACTTT GGGAGGCCAAGGCGGGTGGATCACCTGAGTTAGGAAGTTCAAGACTAGCC TGACCAACATGGAGAAACCCCGTCACTACTAAAAATACAAAATTAGCCGG GCGCGGTGGCGCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGG TGGATCACCTGAGTTAGGAAGTTCAAGACTAGCCTGACCAACATGGAGAA ACCCCGTCACTACTAAAAATACAAAATTAGCCGGGCAGCGGTGGCGCACG CCTGTAAT	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG00673.hp1 HG01175.hp1 others(5): Show HG00621.hp2 HG00673.hp1 HG01175.hp1 HG02809.hp2 NA18971.hp1 NA18987.hp2 NA19070.hp2 NA19085.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0003 a0001c0001 a0004c0003	a0001c0001t0002 a0004c0003t0001 a0001c0001t0002 a0004c0003t0001	a0001c0001t0002g0000 a0004c0003t0001g0000 a0001c0001t0002g0000 a0004c0003t0001g0000	8	392	0.0204	-557	c.52 others(11): Show c.5286_*5842del	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		4444		chr6	TogoVar
MYOM2_chr8_2040046_2150456	2085519	CCCACTGT others(550): Show CCCACTGTTGTGATCTCTGCGTGGCCCCACTGTCATGATCTCTGCGTGGC CCCACTGTTGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTGCGTGGC CCCCCACAGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCG TGGCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACTGTCGTGATCTCTT TGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGATC TCTTTGTGGCCCCCTACTGTCGTGATCTCTGCGTGGCCCCCCACAGTCGT GATCTCTGCGTGGCCCCACTGTCGTGATCTCTTTGTGGCCCCCCACTGTT GTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCCAC TGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTTTGTGGCCCCCC ACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCC CCCCACTGTCGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGT GGCCCCCT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0024 a0024	a0024c0071 a0024c0071	a0024c0071t0001 a0024c0071t0001	a0024c0071t0001g0121 a0024c0071t0001g0121	1	391	0.0026	-557	c.164 others(17): Show c.1644+130_1644+686del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36			chr8	TogoVar
MYOM2_chr8_2040046_2150456	2085552	CATGATCT others(550): Show CATGATCTCTGCGTGGCCCCACTGTTGTGATCTCTGCGTGGCCCCACTGT CGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCCA CTGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTGCGTGGCCCCC CACTGTCGTGATCTCTTTGTGGCCCCCCACTGTTGTGATCTCTGCGTGGC CCCCCACAGTCGTGATCTCTTTGTGGCCCCCTACTGTCGTGATCTCTGCG TGGCCCCCCACAGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTT TGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGATC TCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCACTGTCGTGA TCTCTTTGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACAGTC GTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCCCAC AGTCGTGATCTCTTTGTGGCCCCCTACTGTCGTGATCTCTGCGTGGCCCC CCACTGTT	C C	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02080.hp1 NA18940.hp1 others(8): Show HG02027.hp2 HG02080.hp1 NA18940.hp1 NA18944.hp1 NA18946.hp1 NA18970.hp1 NA18972.hp1 NA18993.hp2 NA18999.hp1 NA19004.hp1 NA19009.hp1	a0001 a0005 a0006 others(5): Show a0001 a0005 a0006 a0008 a0010 a0016 a0023 a0077	a0001c0002 a0001c0145 a0005c0005 others(6): Show a0001c0002 a0001c0145 a0005c0005 a0006c0013 a0008c0008 a0010c0056 a0016c0209 a0023c0021 a0077c0111	a0001c0002t0002 a0001c0145t0002 a0005c0005t0001 others(6): Show a0001c0002t0002 a0001c0145t0002 a0005c0005t0001 a0006c0013t0005 a0008c0008t0001 a0010c0056t0002 a0016c0209t0004 a0023c0021t0001 a0077c0111t0002	a0001c0002t0002g0371 a0001c0145t0002g0364 a0005c0005t0001g0298 others(8): Show a0001c0002t0002g0371 a0001c0145t0002g0364 a0005c0005t0001g0298 a0005c0005t0001g0318 a0006c0013t0005g0167 a0008c0008t0001g0178 a0008c0008t0001g0179 a0010c0056t0002g0159 a0016c0209t0004g0161 a0023c0021t0001g0355 a0077c0111t0002g0353	11	390	0.0282	-557	c.164 others(17): Show c.1644+163_1644+719del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36			chr8	TogoVar
MYOM2_chr8_2040046_2150456	2085562	GCGTGGCC others(550): Show GCGTGGCCCCACTGTTGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCT GCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGAT CTCTGCGTGGCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACTGTCGTG ATCTCTTTGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACAGT CGTGATCTCTTTGTGGCCCCCTACTGTCGTGATCTCTGCGTGGCCCCCCA CAGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTTTGTGGCCCCC CACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGC CCCCCACTGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTTTGTG GCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTT TGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACAGTCGTGATC TCTTTGTGGCCCCCTACTGTCGTGATCTCTGCGTGGCCCCCCACTGTTGT GATCTCTT	G G	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0097 a0002c0097	a0002c0097t0006 a0002c0097t0006	a0002c0097t0006g0050 a0002c0097t0006g0050	1	312	0.0032	-557	c.164 others(17): Show c.1644+173_1644+729del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36			chr8	TogoVar
NUP35_chr2_183119443_183166680	183124916	GTGTGTGG others(550): Show GTGTGTGGGTGCAGTCCACTGCTTCTTGATCACCGGTGCTTCCAGTTCCT GTTTTGACTCCTCTCTCCCGGGCTTTGCCAAAGGAATCTTGTTATTAATG GAAGCTTGAATCGTGCAACATTTAATCAACCGTGTGGTTGGTAATCATTG AGATATTGACCTTAACAGCAAGCTAGGAGTTCGCACGATATTTCCCGCCT TTATTTGGGGAAAGTGACTCTTAAGTATTGTAGGAGGTATTTTTCTCTAG TAAGTCACGATCTGAATTTTTTTAAAGATTCATTCCCATTATTCATTGCG GAGCCTCGTTGAAATATGTCGTCTTTGAAAAAAATCTACCACTTTAACAG CACGCGGATTTCTTTTTTTCCTGCTGAGTTTTGCGACTTGTGAGAATCGT CGAAAATTTTAGAACGGAAAATAAACCGTCTTACTGTCATAGAGACTTAC CTGAAAAGTTAGGTTATAACTTTCTGAGCTTGGAAAAGAGAGCAAATGTA ATATATATGGTGTGGAAAGAGTCTTTAGATTTGAAGGGTATGTAATGCTT GCCATGTT	G G	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02970.hp2 HG02886.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0069 a0001c0001t0001g0070	2	400	0.0050	-557	c.40+ others(13): Show c.40+422_40+978del	NUP35	ENSG00000163002.13	transcript	ENST00000295119.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
PCMT1_chr6_149744741_149816419	149762725	TATATCTA others(550): Show TATATCTATGATATATATATATCTATGATATATATACCTATGATATATAT ATACCTATGATATATATACCTATGATATATATATCTATGATAATCTATGA TATATATGATATATATATCTATGATATATATCTATGATATATATATCTAT GATATATATGTTATATATATCTATGATATATATCTATGATATATATATCT ATGATATATATGATATATATATCTATGATATGTATATCTATGATATATAT GATATATATATCTATGATATATATGATATATATATCTATGATATATATGA TATATCTATGATATCTATGATATGTATATCTATGATATATATATCTATGA TATGTATATCTATGATATATATGATATATATATCTATGATATGTATATCT ATGATATATATGATATATATATCTATGATATATATCTATGATATCTATGA TATATATCTATGATATCTATGATATATATATCTATGATATCTATGATATA AATATCTATGATATCTATGATATATATATCTATGATATCTATGATATAAA TATCTATG	T T	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03225.hp1 HG03453.hp2 others(1): Show HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 others(1): Show a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209	4	331	0.0121	-557	c.56- others(15): Show c.56-8417_56-7861del	PCMT1	ENSG00000120265.21	transcript	ENST00000464889.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
RASA4_chr7_102574646_102621756	102590922	AAAAGCGA others(550): Show AAAAGCGAAACTCCATCTCAAAAAAAAAAAAAAAAATGGGACCAGAATTA AATAATGCCCATGTAGTCAAATCTTTCAACCCTGGCAAGGAAGATGTATA ATAATCATCTGAGTGCTTTGGGAGGCTGGGGCAGGAGGATTGCCTGAGGC CAGGAGTTTGAGAACAGCCTGGGCAGCATAGCAAGACCCCATCTCCGCAA AAAAAAAAGTTAAAGAAAATTAGCTGGGCTTGGTGGCACGTGCCTGTAGT CCCAGCTACTCGGGAGGCTGAGGTAGGAAGATTGCTTGAGCCCAGGAGTT TGAGGCTGCGGTCAGCTATGATCGCACCACTGCACTACAGCCTGGGTGAC AGAGCAAGACCCTGTCTCAAAAAATAATTATCATCATCTGAGGGGTCTTT GGTCGGAAGGGGCGGGCCCCTCATCTGGTGGGACCCCTGAGCTGGTTGAG AACAGGGTGGGTGATGAGCTCCTTCACCTACTCCTAGCCCGCTCTCACCT GCCCAGGGCTAGGCTGGGTACTCCTGGAAGATCATCCCCATAGCCTGCAT GACTGGGG	A A	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0040 a0040	a0040c0061 a0040c0061	a0040c0061t0046 a0040c0061t0046	a0040c0061t0046g0127 a0040c0061t0046g0127	1	130	0.0077	-557	c.183 others(17): Show c.1830+806_1831-627del	RASA4	ENSG00000105808.19	transcript	ENST00000262940.12	protein_coding	16/20			chr7	TogoVar
ZNF516_chr18_76352682_76500242	76394265	AGGTGGTC others(550): Show AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTC AGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGT GGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGA AGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGG GGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCA GGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGC AGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC AGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGT GGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGG GGAAGGCG	A A	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0243 a0001c0001t0002g0243	1	317	0.0032	-557	c.181 others(21): Show c.1811-14519_1811-13963del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
GALNT9_chr12_132191372_132334589	132298691	CCTGAGAT others(549): Show CCTGAGATAACCAAGCCACTGCTGAGATAACCCACTCCCATGATAACTAA CCCACTCCCACCACACCTAACCCACCCCCAACACACCTAACCCATCCCTG AGATAACCAACCCACTCCTGAGATAACTCACACCCATAACTAACCCACTC TCACCACACCTAAACCATCCCTGAGATGACCAAGCCACTCCTGAGATAAC CCACTCTCATAACTAACCCACTGCCACCACACCTAACCCATCCCAGAGAT AAACAACCCACTCCTGAGATAAATCACTCCCATAACTAACCCACTCGGAC CACACCTAACCCATCCCTGAGATGACCAAGCCACTCCTGAGATAACTCAC TCCCATACCTCACCCACTCCCACCACACCTAACCCACCCGAGATAACCAA GCCACTGCTGAGATAACCCACTCCCATGATAACTAACCCACTCCCACCAC ACCTAACCCACCCCCAACACACCTAACCCACCCCTGAGATAACCAACCCA CTCCTGAGATGACTCACTCCCATAACTAACCCACTCCCACCACACCTAAC CATACCT	C C	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0176 a0001c0008t0002g0176	1	182	0.0055	-556	c.239 others(19): Show c.239-12817_239-12262del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10			chr12	TogoVar
MLPH_chr2_237482251_237560322	237544083	GGTGGTGA others(549): Show GGTGGTGAGTGGGGGGACAGTGGTGAGTGGGCACGGTGGTGAGTGGAGGG GACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGG GGGACAGTGTGTGGGGGGACAGTGGTGAGTTGGGGGGACAGTGGTGAGTG GGGACAGTGGTGAGTGGGGACAGTAATGAGTCGGGGGACAGTGGTGAGTG GGCACAGTAGTGAGTGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTG GGGGGACAGTGGTGAATGGGGACAGTAGTGAGTGGGGGACCGTGGTGAGT GGGGGCACAGTGGTGAGTGGGGACAGTGGTGAGTCGGGGGACAGTGGTGA ATGGGCACGGTAGTGAGTGGGGGGACAGTAGTGAGTGGGGACAGTGGTGA GTGGGGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGGGGACA GTTGTTGAGTTGGGGGACACTTTAGTGTTGGGGGGGACATTGTTTATTGG GGGCATAGTGGTGTGTGGTTGTCAGTGTGTGGTGGTGGTCAGTGGTGATT GGGCACT	G G	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	192	0.0052	-556	c.153 others(19): Show c.1539+1427_1540-1965del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
PRKCZ_chr1_2045411_2190395	2122309	AGGGTCGT others(549): Show AGGGTCGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTCGTGGCGGTGGT TAGGGTTGTGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCACGGTGGTGG TTAGGGTCACGGTGGTAGGGTCGTGGTGGTTAGGGTCGTGGCGGTGGTTA GGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTCACGGTGGTAGTT AGGGTCACGGTGGTGGTTAGGGTCATGGTGGTGGTTAGGGTCACGGTGGT GGTTAGGGTCGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCGTGGCGGTGG TTAGGGTCACGGTGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTT AGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAG GGTTGTGGTGGTTAGGGTCGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGG TTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTC GTGGCGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGT TGTGGTG	A A	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0012 a0001c0002t0011g0012	1	233	0.0043	-556	c.335 others(19): Show c.335-12951_335-12396del	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
RAP1GAP2_chr17_2791438_3042741	3031505	GTCCCTTT others(549): Show GTCCCTTTCTGAGCTCGCCAGACTATGGAGAACTCCAGGTCCAGATGTGA GGTGGGAAGGGCTGGTTCCTGGGTCCCGAATCCCTTCCTGAGCTCACCAG ACTATCAAGAGCTCCAGGTCCAGATGTGAGGTGAGAAAGGCTGGTTCCTG GGTCCCCCAGTCCCTTTCTGAGCTCGCCAGACTATCGAGAACTCCAGGTC CAGATGTGAGGTGGGAAGGGCTGGTTCCTGGGTCCCGAATCCCTTCCTGA GCTCACCAGACTATCGAGAGCTCCAGGTCCAGATGTGAGGTGGGAAGGGC TGGTTCCTGGGTCCCCCAGTCCCTTCCTGAGCTCTCCAGACTATCGAGAG CTCCAGGTCCAGATGTGATGTGGGAAGGGCTGGTTCCTGGGTCCCGAATC CCTTCCTGAGCTCACCAGACTATCGAGAGCTCCAGGTCCAGATGTGAGGT GGAAGGTGCTGGTTCCTGGGTCCCCCAGTCCCTTCCTGAGCTCTCCAGAC TATCGAGAGCTCCAGGCCCAGTTGTGAGGTGGGAAGGGCTGGTTCTTGGG TCCCGAA	G G	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0096 a0001c0001t0096	a0001c0001t0096g0049 a0001c0001t0096g0049	1	215	0.0047	-556	c.218 others(17): Show c.2184+514_2185-344del	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	23/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF216_chr7_5615047_5786663	5731358	GTTTATTT others(549): Show GTTTATTTAGCTAGCTGCCAAGCTAGACTGATGAACAGATCATGTTTTCC TATGAACAGACTCTCTTCACACAAAACCCACTAGCTTTGTCTATTATCAC CATGAAATACTTCCAAAGTAAGGCTATATAGAGTGAGATAACACACACTG ATGTATCACCACCCAGACCCAACACATGTTAACTATCCAGGCTCTTCACA GTCAAATCAGACAACCACCTTGGAACAACTGCACAGTAGTGCAGACAGAG TGGGTGGGGTACAGCTCTAGCCACATTCAGTAGCAAGGAAGCTTCTTTGC TCGGAGGGTAATGGGGACTTCCCCTTTTCTCTGTTCTTTCTCTTGCTCCA GTAGATTTCTAAGATGACCTCCTAGGTGCTATACCTGCAGTTCTCACACA CTTCCCTTTCTACTGGTTCTCTTTTGCCAGATGTCAATAGTAAGGCCTGT AATAGTAGAACAGGAGGTCTGGCAGAAAGAGGGTAGAGAAAAAGTGCTCA GCTCTGCTCCTTTTCTCATCCAGGTGCCAGTGTTTGGGGACCGGTTTGGA GAGGTTC	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01884.hp2 HG02257.hp1 others(7): Show HG01081.hp1 HG01884.hp2 HG02257.hp1 HG02258.hp1 HG02895.hp1 HG02922.hp2 HG03130.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0007	a0001c0001 a0001c0004 a0002c0010 others(2): Show a0001c0001 a0001c0004 a0002c0010 a0006c0020 a0007c0019	a0001c0001t0007 a0001c0001t0028 a0001c0004t0007 others(4): Show a0001c0001t0007 a0001c0001t0028 a0001c0004t0007 a0001c0004t0031 a0002c0010t0009 a0006c0020t0029 a0007c0019t0045	a0001c0001t0007g0152 a0001c0001t0028g0069 a0001c0004t0007g0149 others(7): Show a0001c0001t0007g0152 a0001c0001t0028g0069 a0001c0004t0007g0149 a0001c0004t0007g0150 a0001c0004t0007g0151 a0001c0004t0031g0188 a0002c0010t0009g0157 a0002c0010t0009g0158 a0006c0020t0029g0243 a0007c0019t0045g0159	10	272	0.0368	-556	c.112 others(18): Show c.1122-1097_1122-542del	RNF216	ENSG00000011275.19	transcript	ENST00000389902.8	protein_coding	5/16			chr7	TogoVar
TMEM41B_chr11_9275654_9319593	9282115	TGCCTGTA others(549): Show TGCCTGTAATCCCAGCACTTTGGGAGGTGGAAGTGGGCATATAGCCTGAG GTCAGGAGTTCAAGACCAGCCCGGCCAACATGGTGAAACCCCGTCTCTAC TAAAAACACAAAAATTAGCTGGGCACGGTGGCACACACCTGTAATCCCAG CTACTCAGGAGGCTGGGCCAGGAGAATCGCTTGAACCCAGGAGGCGGAGT TTGCAGTGAGCCGAGATCACACCACGCACTCCACTCCAGCCTGGGCAACA GCAAGACTCCGTCTCAAAAAAAAAAAAAATTATCAATACCAAATATGATA CAGTTATGTAATACCCATTTTGCATATGCACAGTGGAAATACTGTAAAAA CTACAAGATGAAAGAAAACCGACTGGCCAGAACTTTAAATTTCAGACTAA TCCATGATAAAAATCTAGATGATAAAAAACAAAAATAAAATTAACAAAAT AGATAACTTGATATCCTTTCCATATTCAGTCGTCTACTAACATGCCATCT CCAAACAAATCCATTACCTCAAAAGAGGAAGAAAATGGGCCAGGCGCGGT GGCTCAC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01346.hp1 HG02622.hp1 HG01346.hp1 HG02622.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0016 a0001c0006t0016	a0001c0006t0016g0259 a0001c0006t0016g0260 a0001c0006t0016g0259 a0001c0006t0016g0260	2	368	0.0054	-556	c.75 others(10): Show c.753_*1308del	TMEM41B	ENSG00000166471.11	transcript	ENST00000528080.6	protein_coding	7/7	753		chr11	TogoVar
AHRR_chr5_316714_443285	391572	GGGCAGGG others(548): Show GGGCAGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGA CACAGGGCGAGGAGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCATGGGG GCAGGGCGAGGAGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCATGGGGG CAGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGGGGC AGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGACACA GGGCGAGGAGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCACGGGCGCAG GGCGAGGAGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCACGAACACACG GGTGCAGGGCGAGGCAGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGG ACGCAGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGG CGCAGGGCGAGGAGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCACGAAC ACACGGGTGCAGGGCGAGGCAGGCGCAGGGCGAGGCAGGGCCAGAGCGTG CACGGA	G G	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0037 a0004c0003t0037	a0004c0003t0037g0240 a0004c0003t0037g0240	1	254	0.0039	-555	c.351 others(19): Show c.351+14857_351+15411del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10			chr5	TogoVar
AP3D1_chr19_2095988_2156566	2128442	GCACTGCA others(548): Show GCACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACC CCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCG GCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCG CCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGAC ACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCG TGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGC CCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCC GCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACT GCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTG GAGCCGGCCCGCCCCCGCCGCTCCAACACTGCACCCCGTGGAGCCGGCCC GCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCG CTCCGA	G G	intron_variant intron_variant	MODIFIER	HG02523.hp1 NA18939.hp2 NA18975.hp2 others(5): Show HG02523.hp1 NA18939.hp2 NA18975.hp2 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA19005.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0118 a0001c0001t0001g0119 others(5): Show a0001c0001t0001g0018 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0132 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0172 a0001c0001t0001g0174	8	305	0.0262	-555	c.806 others(14): Show c.806+93_806+647del	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
ARHGEF10_chr8_1818926_1963641	1888909	TGTGAGGA others(548): Show TGTGAGGAGACAGTGGGGTGAGGGGTCTGTGACGAGACACTGAGTGGGGT GAGGGGTCTGCGAGGAGACACTGAGGTGTGAGGGGTCTACAAGGAGTCAC GGAGTGCAGTGAGAGTTGTGAGGAAACATGGAGTGGGGTGCGGGTCATGA GGAGACAGTGATTGGGGTGAGGGGTCCGTGAGGAGACACTGAGTGGGGTG TGAGGGGTCTGTGAGGAGACACTGTGAGTGGGGTGAGGGTTGTGAGGAGA CGCTGAGTTGGGGGGTTGTGAGGAGAGCGTGGGGTGAGGTTTATTAGGAG ACACTGAATGGGGTGAGGGTTGTGAGGAGACATTGAGTGGGATGAGAGGT GTGAGGAGACACTGAATGTGGTGAGGGTTTGTGAGGAGATACTGCATGGG GTGAGCTTTCTTAGGAGACACTGAGTGGGTAAGAGTTGTGAGGAGACACT GAGTGGGGTGAGGGGTATGTGAGGAGACAGTGATGTGAGGCATCTGTGAG GAGACACTGAGTGGGGTGAGGGGTCTGTGAGGAGACACTGAGTGGGGTGA GGGGTC	T T	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00673.hp2 HG03540.hp1 others(3): Show HG00597.hp1 HG00673.hp2 HG03540.hp1 NA18962.hp2 NA19002.hp1 NA19084.hp2	a0001 a0006 a0001 a0006	a0001c0004 a0001c0020 a0001c0021 others(2): Show a0001c0004 a0001c0020 a0001c0021 a0001c0050 a0006c0134	a0001c0004t0002 a0001c0020t0009 a0001c0020t0016 others(3): Show a0001c0004t0002 a0001c0020t0009 a0001c0020t0016 a0001c0021t0004 a0001c0050t0005 a0006c0134t0004	a0001c0004t0002g0228 a0001c0020t0009g0316 a0001c0020t0016g0308 others(3): Show a0001c0004t0002g0228 a0001c0020t0009g0316 a0001c0020t0016g0308 a0001c0021t0004g0312 a0001c0050t0005g0170 a0006c0134t0004g0313	6	361	0.0166	-555	c.118 others(19): Show c.1182+3203_1182+3757del	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	11/28			chr8	TogoVar
ATP11A_chr13_112685038_112892168	112766810	ACTGTGGG others(548): Show ACTGTGGGAAGGTGGGGAGATGTGGGGGTGTTGGGGGCCCCTGTGGGAAG GTGGGGAGGGTGTGGGAGTGCTGGGAGCCCCTGTGGAAAGGTGGGGAGAT GTGGGGGTGTTGGGGGCCCCTGTGGGAAGGTGGGGAGGGTGTGGGAGTGC TGGGAGCCCCCGTGGAAAGGTGGGGAGGATGTAGGGGTGTTGGGGGCCAC TGTGGGAAGGTGGGGAGGATGTGGGGGCGTTGGGGGCCCCTGTGGGAAGG TGGGGAGATGTGGGGGTGTTGGGGGCCCCTGTGGGAAGGTGGGGAGGGTG TGGGAGTGCTGGGAGCCCCCGTGGAAAGGTGGGGAGGATGTAGGGGTATC GGGGGCCCCTGTAGGAAGGTAGGGAGGATGTGGGGGTGTTGGGGGCCCCT GTGGGAAGGTGGGGAGATGTGGGGGTGTTGGGGGCCCCTGTGGGAAGGTG GGGAGATGTGGGGGTGTTGGGGGCCCCTGTGGGAAGGTGGGGAGGATGTG GGGGCGTTGGGGGCCCCTGTGGGAAGGTGGGGAGGATGTGGGGGCGTTGG GGGCCC	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA19043.hp1 HG02809.hp2 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0034 a0001c0002t0014 a0001c0002t0034	a0001c0002t0014g0197 a0001c0002t0034g0179 a0001c0002t0014g0197 a0001c0002t0034g0179	2	157	0.0127	-555	c.40- others(17): Show c.40-18306_40-17752del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112766867	GGGTGTGG others(548): Show GGGTGTGGGAGTGCTGGGAGCCCCTGTGGAAAGGTGGGGAGATGTGGGGG TGTTGGGGGCCCCTGTGGGAAGGTGGGGAGGGTGTGGGAGTGCTGGGAGC CCCCGTGGAAAGGTGGGGAGGATGTAGGGGTGTTGGGGGCCACTGTGGGA AGGTGGGGAGGATGTGGGGGCGTTGGGGGCCCCTGTGGGAAGGTGGGGAG ATGTGGGGGTGTTGGGGGCCCCTGTGGGAAGGTGGGGAGGGTGTGGGAGT GCTGGGAGCCCCCGTGGAAAGGTGGGGAGGATGTAGGGGTATCGGGGGCC CCTGTAGGAAGGTAGGGAGGATGTGGGGGTGTTGGGGGCCCCTGTGGGAA GGTGGGGAGATGTGGGGGTGTTGGGGGCCCCTGTGGGAAGGTGGGGAGAT GTGGGGGTGTTGGGGGCCCCTGTGGGAAGGTGGGGAGGATGTGGGGGCGT TGGGGGCCCCTGTGGGAAGGTGGGGAGGATGTGGGGGCGTTGGGGGCCCC TGTGGGAAGGTGGGGAGGATGTGGGGGCGTTGGGGGCCCCTGTGGGAAGG TGGGGA	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0070 a0001c0006t0001g0070	1	246	0.0041	-555	c.40- others(17): Show c.40-18266_40-17712del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
CACNA1B_chr9_137872782_138129619	138017897	TCAGGTGC others(548): Show TCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTA GGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCT GATGGAAGTGGTCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCC AGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGG CCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGA TGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAG GTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCC ACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATG GAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGT GCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCAC CTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGA AGTGGC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 NA18952.hp1 HG01109.hp1 NA18952.hp1	a0002 a0003 a0002 a0003	a0002c0004 a0003c0006 a0002c0004 a0003c0006	a0002c0004t0001 a0003c0006t0002 a0002c0004t0001 a0003c0006t0002	a0002c0004t0001g0176 a0003c0006t0002g0139 a0002c0004t0001g0176 a0003c0006t0002g0139	2	96	0.0208	-555	c.226 others(19): Show c.2267+4773_2268-4449del	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	18/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1B_chr9_137872782_138129619	138018008	TCAGGTGC others(548): Show TCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTA GGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCT GATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCC AGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGG CCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGA TGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAG GTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCC ACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATG GAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGT GCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCAC CTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGA AGTGGC	T T	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0223 a0002c0001t0002g0223	1	131	0.0076	-555	c.226 others(19): Show c.2268-3960_2268-3406del	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	18/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
DCC_chr18_52335197_53540899	53085989	CTCCTTCT others(548): Show CTCCTTCTCCTTCTTCTCCTTCTCCTTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCTTCTCCTTCTCCTTCTCCCTCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCTTCCTCTTCTCTTCCTCTTCTCTTCTTCTTCTTTT CTTCTTCTTCTTTTCTTCTTTCCTTCCCTTCTTCTTCTTCCGTTCTTCTT CTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTC TTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCT TCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTT CTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTC TTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCT TTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTTCTTCTTCCTTCTTCTTCT TCTTCT	C C	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG04228.hp2 NA19043.hp1 HG02602.hp2 HG04228.hp2 NA19043.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0003 a0002c0022 a0004c0009 a0001c0003 a0002c0022 a0004c0009	a0001c0003t0012 a0002c0022t0024 a0004c0009t0027 a0001c0003t0012 a0002c0022t0024 a0004c0009t0027	a0001c0003t0012g0082 a0002c0022t0024g0031 a0004c0009t0027g0084 a0001c0003t0012g0082 a0002c0022t0024g0031 a0004c0009t0027g0084	3	101	0.0297	-555	c.126 others(21): Show c.1261+19825_1261+20379del	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	7/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DGKB_chr7_14140049_14907751	14211875	TTTTACTC others(548): Show TTTTACTCTCGTGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACT CTCATGTTTTGTGATTTTACTCTCGTGTTTTGTGATTTTACTCTCATGTT TTGTGATATTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGA TATTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTAC TCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGT TTTGTGATTTTACTCTCGTGTTTTGTGATTTTACTCTCATGTTTTGTGAT ATTTACTCTCATGTTTTGTGATTTTACTCTCGTGTTTTGTGATTTTACTC TCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTT TGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTT TACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTC GTGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCGTGTTTT GTGATA	T T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0009 a0001c0009t0009	a0001c0009t0009g0126 a0001c0009t0009g0126	1	97	0.0103	-555	c.212 others(21): Show c.2123-34279_2123-33725del	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
GAL3ST2_chr2_241771822_241809287	241805485	CTCCCCCC others(548): Show CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACC TCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGACCA CCTTCCCTCCCCCCTCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCA AGGGACCTAGGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGG CCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	310	0.0032	-555	c.13 others(11): Show c.1320_*1874del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1199		chr2	TogoVar
GALNT9_chr12_132191372_132334589	132290770	ACCACAGC others(548): Show ACCACAGCACCCACGTCCACAGCACCCACGTCCACAGCACCCACGTCCAC AGCACCCACGTCCACAGCGCACACGTCCACAGCACCCACAACCACAGCGC CCACGTCCACATCACCCACATCCACAGCACCCACGTCCACAGCACCCACA TCCAGAGCACCCACGTCCACACCACCCACATCCACAGCGCCCACATCCAC AGCACCCACAACCACAGCACCCACAACCACAGTGCCCACGTCCACACCAC CCACATCCACAGCGCCCACGTCCACAGCGCCCACATCCTCAGCACCCACA ACCACAGCACCCACGTCCACATCACCCACGTCCATAGCACCCACATCCAC AGCACCCACATCCACAGCACCCACAACCACAGCACCCACGTCCACAGCAC CCACAACCACAGCACCCACAACCACAGTGCCCACGTCCACACCACCCACA TCCACAGCGCCCACGTCCACAGCGCCCACGTCCTCAGCGCCCACAACCAC AGCACCCACGTCCACATCACCCACGTCCATAGCACCCACATCCACAGCAC CCACAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0012 a0001c0025t0012	a0001c0025t0012g0048 a0001c0025t0012g0048	1	94	0.0106	-555	c.239 others(17): Show c.239-4895_239-4341del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10			chr12	TogoVar
MYOM2_chr8_2040046_2150456	2085468	GCTGTCGT others(548): Show GCTGTCGTGATCTCCGCGTGGCCCCTCACTGTTGTGATCTCCGCGTGGCC CCCCACTGTTGTGATCTCTGCGTGGCCCCACTGTCATGATCTCTGCGTGG CCCCACTGTTGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTGCGTGG CCCCCCACAGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGC GTGGCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACTGTCGTGATCTCT TTGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGAT CTCTTTGTGGCCCCCTACTGTCGTGATCTCTGCGTGGCCCCCCACAGTCG TGATCTCTGCGTGGCCCCACTGTCGTGATCTCTTTGTGGCCCCCCACTGT TGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCCA CTGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTTTGTGGCCCCC CACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGC CCCCCA	G G	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0034 a0034	a0034c0029 a0034c0029	a0034c0029t0001 a0034c0029t0001	a0034c0029t0001g0173 a0034c0029t0001g0173	1	393	0.0025	-555	c.164 others(16): Show c.1644+92_1644+646del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2085527	TGTGATCT others(548): Show TGTGATCTCTGCGTGGCCCCACTGTCATGATCTCTGCGTGGCCCCACTGT TGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACA GTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCA CTGTCGTGATCTCTGCGTGGCCCCCCACTGTCGTGATCTCTTTGTGGCCC CCCACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTG GCCCCCTACTGTCGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTG CGTGGCCCCACTGTCGTGATCTCTTTGTGGCCCCCCACTGTTGTGATCTC TGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGA TCTCTGCGTGGCCCCACTGTCGTGATCTCTTTGTGGCCCCCCACTGTTGT GATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCCACTG TCGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCT ACTGTC	T T	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0374 a0009c0012t0001g0374	1	316	0.0032	-555	c.164 others(17): Show c.1644+157_1644+711del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
NEU4_chr2_241804193_241822413	241805485	CTCCCCCC others(548): Show CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACC TCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGACCA CCTTCCCTCCCCCCTCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCA AGGGACCTAGGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGG CCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	316	0.0032	-555	c.-37 others(11): Show c.-3792_-3238del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3707		chr2	TogoVar
NHSL2_chrX_71905845_72158286	72155111	CATGCTTA others(548): Show CATGCTTAGATGGAGTTTACTGTGTGGGATGTTTACTAGGGAATGCTCTA GGGATCAATATCTGTGGAAGAGAAAGGAAGGAAACAAGATTAGACAGGAG GCAGCTGGGCAAGGTGGCTCACACTTGTAATCCCAGCACTTTGGGAGCCG AGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACA AGGTGAAACCACATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTG GCAGGCGCCTGTAGTCCCAGCTGCTTGGGAGGCTGAGAGAGGAGAATTGC TTGAACCTGGGAGGCAGAGGTTGTAGTGAGCTGAGATCACGCCACAGCAT TCCAGCGTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAATTTAG ATGGAGCCGTCTCTCCAATTTACCTCCCACCACTCCCTGTTGCATCAAAC CCAACCAGCTTCATTCCCTTATATTATCTGTCAGGTCCCTGAAGGCATAT GAGTTTTTGACCCTTACCTTAAGTTGTCATCACAGGTTGAAGAACCCAGG AAGCAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00609.hp1 others(99): Show HG00438.hp1 HG00438.hp2 HG00609.hp1 HG00621.hp1 HG00673.hp1 HG01192.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01433.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02630.hp2 HG02647.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03130.hp1 HG03486.hp2 HG03490.hp1 HG03540.hp2 HG03834.hp2 HG04115.hp1 HG04199.hp1 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18948.hp1 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18960.hp1 NA18962.hp1 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18970.hp1 NA18971.hp1 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18990.hp1 NA18994.hp1 NA18995.hp1 NA19000.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19012.hp1 NA19056.hp1 NA19062.hp1 NA19063.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19082.hp1 NA19083.hp1 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19091.hp1 NA20129.hp2 NA20905.hp1	a0001 a0003 a0005 others(2): Show a0001 a0003 a0005 a0006 a0009	a0001c0001 a0001c0003 a0001c0013 others(4): Show a0001c0001 a0001c0003 a0001c0013 a0003c0004 a0005c0005 a0006c0008 a0009c0017	a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 others(34): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0030 a0001c0001t0046 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0057 a0001c0001t0058 a0001c0001t0062 a0001c0003t0014 a0001c0003t0025 a0001c0003t0028 a0001c0003t0055 a0001c0003t0064 a0001c0013t0004 a0003c0004t0001 a0003c0004t0004 a0003c0004t0009 a0003c0004t0011 a0003c0004t0045 a0003c0004t0047 a0003c0004t0056 a0005c0005t0001 a0005c0005t0031 a0005c0005t0063 a0006c0008t0001 a0009c0017t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(99): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0061 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0106 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0139 a0001c0001t0001g0162 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0004g0012 a0001c0001t0004g0077 a0001c0001t0004g0102 a0001c0001t0004g0103 a0001c0001t0004g0108 a0001c0001t0004g0115 a0001c0001t0004g0131 a0001c0001t0012g0031 a0001c0001t0012g0041 a0001c0001t0012g0184 a0001c0001t0018g0004 a0001c0001t0018g0005 a0001c0001t0019g0058 a0001c0001t0019g0130 a0001c0001t0021g0013 a0001c0001t0022g0172 a0001c0001t0030g0045 a0001c0001t0046g0036 a0001c0001t0048g0007 a0001c0001t0049g0163 a0001c0001t0050g0070 a0001c0001t0051g0044 a0001c0001t0052g0151 a0001c0001t0053g0133 a0001c0001t0054g0048 a0001c0001t0057g0110 a0001c0001t0058g0039 a0001c0001t0062g0145 a0001c0003t0014g0155 a0001c0003t0014g0156 a0001c0003t0025g0149 a0001c0003t0028g0150 a0001c0003t0055g0030 a0001c0003t0064g0154 a0001c0013t0004g0165 a0003c0004t0001g0032 a0003c0004t0001g0119 a0003c0004t0001g0177 a0003c0004t0004g0186 a0003c0004t0009g0083 a0003c0004t0009g0084 a0003c0004t0009g0107 a0003c0004t0011g0001 a0003c0004t0011g0067 a0003c0004t0011g0086 a0003c0004t0045g0087 a0003c0004t0047g0072 a0003c0004t0056g0014 a0005c0005t0001g0089 a0005c0005t0001g0090 a0005c0005t0031g0078 a0005c0005t0063g0068 a0006c0008t0001g0104 a0009c0017t0001g0147	102	187	0.5455	-555	c.11 others(13): Show c.11538_*12092del	NHSL2	ENSG00000204131.11	transcript	ENST00000633930.2	protein_coding		1826		chrX	TogoVar

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