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	cdna cdna pos length	distance	status	chr	external
ANKS3_chr16_4691511_4739271	4712109	GCCTGTAA others(892): Show GCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTGGAGA TCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACT AAAAATACAAAAATTAGCTGGGTGTAGTGGTGCACGCCTGTGATCCCAGC TACTCGGGAGGCTGAGGCAGAAGAATTGCTTGAACTCAGGAGGCGGAGGT TGCGGAGGTTGCAGTGAGCTGAGATCTCGCCACTCCAGTCCAGCCTGGGC AACAGAGCAAGACTCCATTTCAAAAACAAAAAAAAAGAAGAAAGAAAACT ATAGACCAGTATCACTTATGACTGAATATCCATAGAAAAATACTAAATAT TAATAAACAGAATTCAAAAACACATTAAAATAGTACAACATGTGGGATTT ATGCCAAGAATGTAAGGTTGATTCATTATTAGGAGGTTCATGAAGACAAT CTACCATATGAAAATTCACCATCGTCTCCAAAGATATGGGAACACAATTC AATAGTTACTCCTGTAAAACACCACTCAGGAATAGAAGAACTGAGGAATA CTTTGTTAATAAGCTAAAATAACATATGCCTTCCCTTTTACAGTCAGCCT CTCATGTAACGTGGCATTTCCACTAAGATCAGGACCAAGGTAAGGAGGCT CACTATCTCCACTATGTTGAACAATGAGCTAGAGGTGTTAGCAACTAAAC AAAAGAACGGTGCAATTCAACAAAGTCAGAGTCATGAGAATCAGCAGGAA GCAGTGTATCCATCGATACTTAAAGATTATATGTTAGTACACCTGTAAAG CCCTAAAGAATCAATAACAAAACTAACCTGAACAATGTAAGAATTCTGTA AGGTAGCAGAATATAAAATTAGTTTGCAGGGCTGAGTGCAGTGGCTCACA	G G	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0009 a0007c0010t0009	a0007c0010t0009g0116 a0007c0010t0009g0116	1	372	0.0027	-899	c.709 others(17): Show c.709+1043_709+1941del	ANKS3	ENSG00000168096.15	transcript	ENST00000304283.9	protein_coding	7/17				chr16	TogoVar
CFAP299_chr4_80330730_80968750	80587851	CAAAGTGC others(892): Show CAAAGTGCAGGCTACTGCATTATGGATGTTCAATAAAGCATAAATACCAT GTGTTATGTTAGGTCAGGTTCCCTAAAAGCAGAGCATAGGATGCCAATTT TAGTGCAAGCGATTTATTGAGAAAGTTCTCTCATCTAAAACCTGTTGTGG CATGATGGAAGCATGATACTATAGAGGAAGAAGCTAGGCAGAGATGTGGT TTCAGTTGAAATCTAGTCTTAGTCTGATCTCACAGAGAGCTCTGGAATAT GAGAGATTGTTCTGCCTGCGGCAAGGTGAATTTGCTTGTATACATTTCCT TCCCCATTCCTCTCTCCATCAATTAATCATCAGCTGTCACAGAGGTGGGA GATGGAGAAGTGGCTCCTGTCAGCTAAGGACAGTCCTTTCAAGGAGGGTA CAGGTGGGAACCATTAGCTTTTAACACCTGCAGGTCTGGAGCTGGGTACA TCTGCCTGGGAAATGAGATCTAAGAGGGACACTACCAACATCCACTGCAG TGCTCTAGAACTACAGATGCTAAAGCTTAGTTCTAGCCATTTTAGGGAAA AAAAAAGTATGTCATTGTTTCAATAATGTAATCTTATGTAAGCAAAACAT AATTTTATTTAGGTATTTAATCAATCATTTTATATGAAAATTTAATGACA TCTTTAGTGTTACATACCTGACATGAAACATAGCCATTTGAATTAAAATA AAATGTATTTGGTCATTTACAAATGACCAAAAGCCCAAATATGATTTGGT GTCCAAAAATTTTACATGTGTAATAAAAAGCTTTCCCAGTTAAATCTTAT GTCTGCTAGTACATGTCCCATATATAATTCATGCTGTGTTTTTTGAACTG ACAGAATCAAGACAGCCAATTATACTTAATTAAGACAATTAAAAAATGAT	C C	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG02615.hp2 HG02895.hp2 others(5): Show HG01168.hp2 HG02615.hp2 HG02895.hp2 HG02897.hp2 HG02976.hp1 HG03139.hp1 HG03195.hp2 HG03540.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0005 a0002c0007 a0001c0004 a0002c0005 a0002c0007	a0001c0004t0001 a0002c0005t0001 a0002c0007t0001 a0001c0004t0001 a0002c0005t0001 a0002c0007t0001	a0001c0004t0001g0061 a0001c0004t0001g0065 a0001c0004t0001g0066 others(5): Show a0001c0004t0001g0061 a0001c0004t0001g0065 a0001c0004t0001g0066 a0002c0005t0001g0058 a0002c0005t0001g0072 a0002c0005t0001g0076 a0002c0005t0001g0077 a0002c0007t0001g0047	8	96	0.0833	-899	c.333 others(17): Show c.333+4671_333+5569del	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	3/5			INFO_REALIGN_3_PRIME	chr4	TogoVar
PTEN_chr10_87858625_87976930	87893066	CTTTTGAC others(892): Show CTTTTGACTCCCCAAAACTTAATATTTAGCCTATACTTGACTAGAAGTCT TACTGATGACATAATGTTCGTTAATACATATTTTATATATGTGTCAGATA GCATATTTGTATAATAAAGTAAGCTGCAGGAAAAATATTAAAATCATAAA GAAGAGAAAATATACTTACTATTCATTAAGTGGAAGTGGATCCTCATAAA GGTCTTCATCCTCACTGCCTTCACTTTGAGTAGGCCGAGGAGTAGGAGAG AGAGGAAAGGTCAGACTTGCTGTCTCATGGGTGGCAGAGGTAGAAGAAGG TCCACATACAAGTGGTCCGACACAGCTCAAACCGGTTTTGTTCATTGGCC AACTGTAGTTTGATTGAAAGTAATAATAAATGAAGTTTCTGCCTCAGTTC AGTATTATCAAGTCATAGATAGCAAGGGCTGGAAGAAACCTTAGTAGTAA TCTCTTTGAGTCTAATTATCATGTAGAATAGGAAATTGCGGTCTAGAAAG GTTAAGTGACTTGTCCAAATTACACAACTAGTTAGAGACATAGCCAGCTC TTAAATCTGACTTCCAGATTTTCACTGTGTCTTCTTTTTTCTGTAACGTG TTGCCTTTTTTAGCCATGAAAAATTAGAAGTTGAACTCTTGTCTTTTCAG GCAGGTGTCAATTTTGGGGTTTTGTTTTGATTTTTGGTTTTTGACATAAA GTACTTTAGTTCTGTGATGTATAAACCGTGAGTTTCTGTTTTTCTCATAT ACCTGAATACTGTCCATGTGGAAGTTACCTTTTATCTTTACCAGTATTAA CACATAAATGGTTATACATAAATACATTGACCACCTTTTATTACTCCAGC TATAGTGGGGAAAACTTTCTTTTCATAACTAGCTAATGTTTTAAAAAGTA	C C	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01261.hp1 HG01346.hp1 HG01255.hp1 HG01261.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0089 a0001c0001t0022 a0001c0001t0089	a0001c0001t0022g0081 a0001c0001t0022g0083 a0001c0001t0089g0082 a0001c0001t0022g0081 a0001c0001t0022g0083 a0001c0001t0089g0082	3	320	0.0094	-899	c.80- others(12): Show c.80-956_80-58del	PTEN	ENSG00000171862.15	transcript	ENST00000371953.8	protein_coding	1/8			INFO_REALIGN_3_PRIME	chr10	TogoVar
PTN_chr7_137222341_137348733	137294399	GGCTTGGG others(892): Show GGCTTGGGCAGCCTTGTGCAGAGCACAATTTGCATCATGATGGACAATAG CCTTGGTCCTGACATGTAAGTTTCCTTTTAAAATTTAGACTCTGTCTGCT TTGCTTGGCAGTCAAGTATCTAGTCTGAAGCCAAATTAGAATCACCTACT CCCTACCAGGCCATCCCATGCCCCACCAAGAGAGTCTGGCCTGTTAGCAA GTTTCTCTGCCATCCACCTCAGCCACCAGAAAACAGGCCAAGTTGCAGTT ACTGAAAAGCCCAGTATATATTGTGTCTTGAACTCCCCTCAGTGCTTCTA GCTACGTATCCTTGTGGCATGTGTATTTGTACATTTGGAGAAATACGTGG AAGGCAAATAAAGATGTACGCCATTTCCATTAGCCAAATTATTTGAAATA GTAATAAAGATGGCTGTCTTAAGTGGGTGTGGGATTAGATATGGGTGTCA GATATCACTGCTGTTTTGCTTTTCTTTTTTTATATAAAGTGGCTCACAGA ATTTTAAGTTAGAACTCATGCTTTCAGAGAGTTTGGCAAACAATAAAAAA GAAATAAAATAACTTGCCCTGGGTCACCCATCTGGTGACTTATGTTGATG ACAGAGTCAATCTTGTATCCCAACAATCTAGATCTCTCCTGTCTAACACA GTAGTCACTAGCCACTTGTGGCTATTAAGCCCATGAAATGTAAGTAGTCA GACCGGAAATGTACTATAAGTGTGAAATACACATCAGATTTTAGAGACTC TATGAACAGAAAAAGAATGTAAAAATATCTCAAATATACTTATTCATTCA ATCAGTCATTACACATAGAACAATGAATAGCACAGGCTCAGTCCTGGCCT CTGTGGAGCTTGAAGTATAGTAGATATTATTCAAAATGTTCTTTTTTATT	G G	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	294	0.0034	-899	c.-1- others(17): Show c.-1-40324_-1-39426del	PTN	ENSG00000105894.13	transcript	ENST00000348225.7	protein_coding	1/4				chr7	TogoVar
RIPK1_chr6_3063494_3120187	3090792	AGCGCCTA others(892): Show AGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCACCTACCTGCCGCACC TAGTAACCGCAGAGTACCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAAC CGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCC GCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCG CGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTA GTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTAC CTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCG CAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGC ACCTAGTAACCGCAGAGTACCTACCTGCCGCACCTAGTAACCGCAGCGCG CCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGT AACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCT GCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCA GCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCAC CTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCC TACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAA CCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGC CGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGC	A A	intron_variant intron_variant	MODIFIER	HG03704.hp1 NA18956.hp1 NA18970.hp1 others(3): Show HG03704.hp1 NA18956.hp1 NA18970.hp1 NA18986.hp1 NA19003.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0026 a0001c0001t0001g0044 a0001c0001t0001g0216 others(3): Show a0001c0001t0001g0026 a0001c0001t0001g0044 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0291 a0001c0002t0001g0021	6	309	0.0194	-899	c.915 others(17): Show c.915+1169_915+2067del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10			INFO_REALIGN_3_PRIME	chr6	TogoVar
ACAP3_chr1_1287391_1312930	1288654	TCTGCTCC others(891): Show TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCC CGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCC GTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCC TGTTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCG TGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGTTCCGTCCCCCGAGTCTC TGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTG TCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCCCGTGTCCC TGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTG TCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTC TGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCCCCGTCCCG TGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCC GTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTC TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCC CGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCT CCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	274	0.0036	-898	c.40 others(11): Show c.4012_*4909del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding			3736		chr1	TogoVar
BANP_chr16_87946434_88082316	87999928	GTGCGCGG others(891): Show GTGCGCGGCTGGACTTACCTGTCCTTCCAGACGTGTCTCCATGCACGCAC GTGCGCGGCTGTACTTGCCTGTCCTTCCAGACACCCAGACACGTCTCCAT GCACGCATGTGCGCGGCTGTACTTACCTGTCCTTCCAGACACGTCTCCAT GCCCGCACGTGCGCGGCTGTACTTACCAGGCCTTCCAGACACGTCTCCAT GCACGCACGTGCGCGGCTGTACTTACCTGTCCTTCCAGACACGTCTCCAT GCACGCACTTGCACGGCTGTACTTACCAGGCCTTCCAGACACGTCTCCAT GCACGCACGTGCGCGGCTGTACTCACCTGTCCTTCCAGACACGTCTCCAT GCACGCACGTGCGCGGCTGTACTTACCTGTCCTTCCAGACACCCAGACAC GTCTCCATGCACGCACGTGCGCGGCTGTACTTACCTGTCCTTCCAGACAC CCAGACACGTCTCCATGCACGCACGTGCGCGGCTGTACTTACCTGTCCTT CCAGACACCCAGACACGTCTCCATGCACGCACGTGCGCGGCTGTACTTAC CTGTCCTTCCAGACGCGTCTCCATACACGCACGTGCGCGGCTGTACTTAC CTGTCCTTCCAGACGTGTCTCCATGCACGCACGTGCGCGGCTGTACTTAC CTGTCCTTCCAGACACCCAGACACGTCTCCATGCACGCACGTGCGCGGCT GGACTCACCTGTCCTTCCAGACACGTCTCCATGCCCGCACGTGCGCGGCT GGACTCACCTGTCCTTCCAGACACGTCTCCATGCACGCACGTGCGCGGCT GTACTTACCTGTCCTTCCAGACACGTCTCCATGCACGCACGTGCACGGCT GTACTTACCTGTCCTTCCAGACACCCAGACACGTCTCCATGCACGCACA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02647.hp2 HG03491.hp1 others(3): Show HG01891.hp1 HG02647.hp2 HG03491.hp1 HG03492.hp1 HG03540.hp1 NA20905.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0007 a0001c0010t0007	a0001c0010t0007g0126 a0001c0010t0007g0148 a0001c0010t0007g0150 others(3): Show a0001c0010t0007g0126 a0001c0010t0007g0148 a0001c0010t0007g0150 a0001c0010t0007g0155 a0001c0010t0007g0157 a0001c0010t0007g0158	6	343	0.0175	-898	c.363 others(17): Show c.363-4044_363-3147del	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	4/13			INFO_REALIGN_3_PRIME	chr16	TogoVar
GAL3ST2_chr2_241771822_241809287	241805526	CCCCCCTC others(891): Show CCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAG GAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCA GGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCC CCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTC CGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCTCCCTCCCCC CTCAGCCCAAGGGACCTAGGCAGGCCACCCTCCCCCCTCAGCCCAGGAAC CTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCC ACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAC CCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTC AGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGAA CCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGC CACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0157 a0001c0001t0002g0157	1	307	0.0033	-898	c.13 others(11): Show c.1361_*2258del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding			1240		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805526	CCCCCCTC others(891): Show CCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAG GAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCA GGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCC CCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTC CGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCTCCCTCCCCC CTCAGCCCAAGGGACCTAGGCAGGCCACCCTCCCCCCTCAGCCCAGGAAC CTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCC ACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAC CCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTC AGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGAA CCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGC CACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	316	0.0032	-898	c.-37 others(11): Show c.-3751_-2854del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding			3666		chr2	TogoVar
SCNN1D_chr1_1275436_1297025	1288654	TCTGCTCC others(891): Show TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCC CGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCC GTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCC TGTTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCG TGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGTTCCGTCCCCCGAGTCTC TGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTG TCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCCCGTGTCCC TGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTG TCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTC TGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCCCCGTCCCG TGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCC GTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTC TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCC CGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCT CCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCC	T T	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	268	0.0037	-898	c.166 others(17): Show c.1662+635_1663-702del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17			INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2B_chr1_144882288_145100328	144883081	AGGGGGCA others(891): Show AGGGGGCAAAAAGCCGGGTCTGGCAAAAAGCCGTGGAGGCAAAAAGCCGC GGTGGGCAGAAAGCCATGGCGGCGGGGTGCAAAAAGCCGCAGCGGGCAGA AAGCCGCGGCGGGGGGGCAAAAAGCCGCGGCCCGCAAAAAGCAGCGGCGG CGGGGGTGCAAAAAGCCGCTGCGGGCAAATAAGTGCGGCACCGGCGGGGG GGGTAAAAGGCCGGGTCGGGCAAAAAGCCACGGCGGCGGGGGTGCAAAAA GCCACAGCGGCGCGGGGGAAAAAGCCGTGGCGGGCAGAAAGGCGCGGCGG CGTGGGGGAAAAAGCCGCGGCGTTGGGGGCAAAAAGCCGCGGTGGCGGGG GGGCAAAAAGCTGCGGTGGCGGGGGGGCAAAAAGCCGTGACCGGCAAAAA GCCGTGGTGGCGGGGAACAAAAAGCCGCGGCGGCGGGGGCGGGCAAAAAG CCGGGGCGGGCAAAACCCCGAGGCGCCGTGGGGGCAAAAAGCCGGGGCGG GCAAAAAGCCGGGGCGGGCAAAAACCCGCGGCGGCGGTGGGGCAAAAAGC TGGAGCGGGTAAAAAGCCGCGGCAACAAAAAGCCTCGGCGGCGGGGGCGC AAAAAGCCGCGGTGGGCATAAACCCGAGGCGGCGGGGGGGGGGGGGTGCA AAAAACCGCCGTGGGGAAAAAGCCGCGGCGGTGGGGGGCAAAATCCCGCG GCGGGCAAAAAGCCGCGGCGGCGAGGGGGGTCACAACAAAGCCGCGGCGG GCAAAAAGCCGAGGCGGGGTGGGGGGGGGGGAGGGGGGGAAGCCGCGGCG GCGGGGGGCGAAAAGCCACGGCGGCGGGGGGTAAAAAGCCGCGGCGGTCA AAAAGCCGAGGCGGGGTGGGGGGGGGGGAGGGGGGGAAGCCGCGGCGGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 NA18941.hp1 NA18959.hp1 HG02135.hp1 NA18941.hp1 NA18959.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0002 a0005c0008t0005 a0001c0001t0002 a0005c0008t0005	a0001c0001t0002g0004 a0001c0001t0002g0008 a0005c0008t0005g0039 a0001c0001t0002g0004 a0001c0001t0002g0008 a0005c0008t0005g0039	3	52	0.0577	-898	c.81 others(11): Show c.8181_*9078del	SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding			4206		chr1	TogoVar
ZDHHC11_chr5_790605_855986	852741	CGGGGGAC others(891): Show CGGGGGACAGACCCCATGGAGGACAGCGAGCCGGGGGAAGAGACCCCACG GAGGACAGCAAGCAGCGGGGACAGACCCCACGGAGGACAGCGAGCCGGGG GTACAGACCACACGGAGGACAGCGAGCAGCGGGGACAGACCCCACGGAGG ACAGTGAGCAGCGGGGACAGACCCCGCGGAGGACAGCGAGCCGAGGGGAC AGACCCCACGCAGGACAGCAAGCAGCAGGGAAAGACCCCACGGAGGACAG CGAGCCAGGGGGACAGACCCCATGGAGGACAGCGAGCAGCGGGCACAGAC CCCACGGAGGACAGCGAGCCAGGTGGACAGACCCCATGGAGGACAGCGAG CCAGGGGACACAGGCCCCACGGAGGACAATTAGCAGCGGGGACAGACCCC ACGGAGGACAGCGAGCCAGGGAGACAGACCCCACAGAGGACAGCGAGCCA GGGGGCAGAGACTCCACAGAGGACAGCGAGCCGGGGGGCACGGACCCCAC GGAGGACAGTGAGCAGCGGGCACAGACCCCACAGAGGACAGTGAGCAGCA GGGATAGACCCCACCGAGGACAGCGAGTCGGGCACAGACCCCGCAGAGGA CAGCGAGTCGGGGGTACAGACCCCACGGAGGACAGCGAGCCAGGGGGACA GACCCCACAGAGGACAGTGAGCAGCGGGGACAGACCCCACAGAGGACAGT GAGCCAGGGGGCACAGACCCCACAGAGGACAGCGAGCGAGGAGCACAGAC CCCACAGAGGACAGCGAGCTGGGGAGACAGATCCCACAGAGGACAGTGAG CAGCGGGGACAGACCCCACAGAGGACAGCAAGCCCGGGGGACAGACCCCA CAGTGGACAGCAAGCCACGGGGACAGACCCCACAGAGGACAGCAAGCCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp1 NA18950.hp1 NA19056.hp1 others(1): Show HG02132.hp1 NA18950.hp1 NA19056.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0168 a0001c0001t0001g0176 a0001c0001t0001g0008 a0001c0001t0001g0168 a0001c0001t0001g0176	4	310	0.0129	-898	c.-30 others(11): Show c.-3037_-2140del	ZDHHC11	ENSG00000188818.13	transcript	ENST00000283441.13	protein_coding			1756		chr5	TogoVar
CEP72_chr5_607340_658553	630151	TGCCGGGA others(890): Show TGCCGGGATTTGGCCCAGTCCTGGTGGGGTTCTGTCCAGCGCCGGGATTT GGCCCAGTCCTGGTGGGGTTCTGTCCAGCGCCGGGATTTGGCCCAGTCCT GGTGGGGTTCTGTCCAGCGCCGGGATTTGGCCCAGTCCTGGTGGGGTTCT GTCCAGTGCCGGGATTTGACCCAGTCCTGGTGGGGTTCTGTCCAGTGCCG GGATTTGGCCCAGTCCTGGTGGGGTTCTGTCCAGTGCCGGGATTTGACCC AAGTCCTGGTGGGGTTCTGTCCAGTGCCGGGATTTGACCCAGTCCTGGTG GGGTTCTGTCCAGTGCCGGGATTTGGCCCAGTCCTGGTGGGGTTCTGTCC AGTGCCGGGATTTGACCCAGTCCTGGTGGGGTTCTGTCCAGTGCCGGGAT TTGGCCCAGTCCTGGTGGGGTTCTGTCCAGCGCCGGGATTTGGCCCAGTC CTGGTGGGGTTCTGTCCAGCGCCGGGATTTGGCCCAGTCCTGGTGGGGTT CTGTCCAGTGCCGGGATTTGACCCAGTCCTGGTGGGGTTCTGTCCAGTGC CGGGATTTGGCCCAGTCCTGGTGGGGTTCTGTCCAGTGCCGGGATTTAGA CCAGTCCTGGTGGGGTTCTGTCCAGTGCCGGGATTTGACCCAGTCCTGGT GGGGTTCTATCCAGTGCCGGGATTTGGCCCAGTCCTGGTGGGGTTCTGTC CAGTGCCGGGATTTGACCCAGTCCTGGTGGGGTTCTGTCCAGTGCCGGGA TTTAGACCAGTCCTGGTGGGGTTCTGTCCAGTGCCGGGATTTGGCCCAGT CCTGGTGGGGTTCTGTCCAGTGCCGGGATTTGACCCAGTCCTGGTGGGGT TCTGTCCAGTGCTGGATTTGACCCAGTCCTGGTGGGGTTCTGTCCAGC	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01069.hp2 HG01175.hp1 others(15): Show HG00735.hp1 HG01069.hp2 HG01175.hp1 HG01243.hp1 HG01981.hp2 HG02602.hp1 HG02683.hp1 HG02683.hp2 HG02738.hp2 HG03491.hp2 HG03688.hp1 HG03834.hp2 HG04115.hp2 HG04228.hp2 NA18942.hp1 NA18982.hp1 NA20752.hp2 NA20905.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0007 a0002c0002 a0005c0007	a0002c0002t0001 a0005c0007t0001 a0002c0002t0001 a0005c0007t0001	a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069 others(15): Show a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0005c0007t0001g0074	18	85	0.2118	-897	c.513 others(17): Show c.513-3501_513-2605del	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	4/11			INFO_REALIGN_3_PRIME	chr5	TogoVar
CFAP97D2_chr13_114174257_114228085	114198668	TGAGGCGT others(890): Show TGAGGCGTGACAGTGGGTCCCCGTGCGTACGGTCCCCGCTGAGGGGTGAC GGCGCGTCCCCGTGTGTACAGTCCCCGCTGAGGGGTGACGGCGCGTCCCC GTGCTTACGGTCCCTGCTGAGGCGTGACAGTGGGTCCCCGTGTGTACGGT CCCCGCTGAGGCGTGACAGCGCGTCCCCGTGTGTACGGTCCCCGCTGAGG GGTGACGGCGCGTCCCCGTGTGTACGGTCCCCACCGAGGGGTGACGGCGC GTCCCCGTGTGTACGGTCCCCGCTGAGGTGTGATGGCGCGTCCCCGTGGG TACGGTCCCCACTGAGGCGTGACAGCGCGTCCCCGTGTGTACGGTCCCCG CCGAGGGGTGACGGCGCGTCCCCGTGGGTACGGTCCCCGCTGAGGCGTGA CGGCGCGTCCCCGTGTGTACGGTCCCCGCTGAGGCGTGACGGCGCGTCCC CGTGGGTACGGTCCCCACTGAGGCGTGACGGCGCGTCCCCGTGTGTACGG TCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGTGTACGGTCCCCGCCGAG GCGTGACGGCGCGTCCCCGTGGGTACGGTCCCCACTGAGGCGTGACGGCG CTTCCCCGTGGGTACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGG GTACGGTCCCCACTGAGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCC GCCGAGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCCGCCGAGGCGTG ACGGCGCGTCCCCGTGGGTACGGTCCCCACTGAGGCGTGACGGCGCTTCC CCGTGGGTACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGTACG GTCCCCACTGAGGCGTGACGGCGCGTCCCCGTGTGTACGGTCCCCGCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0090 a0001c0001t0008g0090	1	348	0.0029	-897	c.172 others(16): Show c.172-1646_172-750del	CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	2/3			INFO_REALIGN_3_PRIME	chr13	TogoVar
DOCK5_chr8_25179689_25420711	25189933	CTGGAGTG others(890): Show CTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCTGCCTCCTGGG TTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGCG CACGCCACCACGCCCGGCCAGTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCATGTTGGTCAGGCTGGTCTGGAACTCCTGACTTCATGTGATGTGCC CGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCTCCT GGCCCAGAATGTTTTTAAATGCATAAAGTACGATACAAAGTTCCAAGTCA CTGTAGAAATAAAAATTAAGTAAATTACAAAGGATAGAAAATGAAAACAG CCGTATTGAAATAGGCCGTGAAGGTGTTTTTCAAAGTTCGTGATACTGCA GTATATGTACTTCTTTATTAATGCATAAAGTACCAAGATCTAGTGACAGG TCTAATAACTAGCATAATTTTGAATTAGTCACGAGCATATATGATTTTTC AAGATATCTGCAGTAACCATACTATGATATAAAAATCCCTGTTTTATTGG TGACAGTATCACAGGCGCTAGTAGTGCAATTGCGGTTTATTGGCTACAGT CGTAATTAAAGTGAGTGCTGAATGTCAGAAAATAGAGATGTAACTTTTTT CTTGTTCAAGTTCGTGGATCCTCTGGATTTAACAGATTAAGTATCCTTGG CTGAGGATCACATAGCTAATTAGTTACAGTGCCATCTGAGCAAGACAGTG ATACTTGTTGACCACCTCTTTGCACATAACACTGTACCGGATATTATATA ATTATAATGACCCGAAGAAGGCCTGGCCTTAACTTGGTCATGGGTTTTTT TTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGG	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0002	a0002c0007t0002g0100 a0002c0007t0002g0100	1	208	0.0048	-897	c.43+ others(15): Show c.43+4996_43+5892del	DOCK5	ENSG00000147459.18	transcript	ENST00000276440.12	protein_coding	1/51			INFO_REALIGN_3_PRIME	chr8	TogoVar
INTS9_chr8_28762661_28894969	28879250	CAGGAATG others(890): Show CAGGAATGCAAGTCTGGTTTAACATTCAAAATTCAATTAAAGTAATATAT TAATATAAAGACAAAAACCACATGATCACCTTGATAGATGAAGGAAAAGC ATCTTACAAAATCCAAGAACCATTTACGATAAAAATACTCAACAAGCTGG ATAGAAGGGAATATCATCAGCCTGATACAGGGCATCTATGAAAAACGTAC AGTTCACATCATATTTAGGAGTGAACAACTGAATATTTTCTTCCTAAGAT GAGGAACAAATCAATGATGCCTGCTTGTACTACCTCTATTCAACACTGTA CTGGAGGGTCTAGCTAGTACAATCATGCAAGAAAAAGAAGTGAAAACATG GAGAAATTGGAAATGAAAACTTATGTCCACACAGTCATAACAGCCAAAAA GCAGAAACAATTCAAATGTCCATCACCTGGTGCAGGAATAAACAAAATGG AGAGTACCCATAGAGGAAAATATTATTCAGCAAGAAAAAAGAAACAACTG ATATATGCTACCACATGAACGAACTTCAGAAACATTACACCAAATGAAAG AAGATGTCTTAGCCACAAAAGACCCCATATCAAATGAGTTAATTTACATA AAATGACCAGAAAGGGCAAATCTACCGAGACTCGTGGTTGCCGAGGCCTG GAGGTAGTAACGGAGATCTTTTTGGAGTAATGGAAATGCGCTAAATCTGG ATCGTGGTGAATGAGGCACAACTCTGAAATCTACTAAAAGTCATTGAATT TTGTTTTATATGCAAGAATTTTACATATTACATATTACACCTCAAAAAAG CTGTTTAAACAATGTAAAAAAAGGTAACTATAATAATATCATTTACATAT TAAAACTACTGCTTTTTACCCATATTTCCACATGCTGGAAAAAAATAG	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0307 a0001c0001t0001g0307	1	356	0.0028	-897	c.9+9 others(14): Show c.9+9727_9+10623del	INTS9	ENSG00000104299.15	transcript	ENST00000521022.6	protein_coding	1/16				chr8	TogoVar
GRIK1_chr21_29531933_29944996	29614477	CATCTCAG others(889): Show CATCTCAGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCTGG TCTCAGCCTCCCAAGTAGCTGGGGTTACGGGCATGCAACACTACATCCAG CTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCT GGTCTCAAACTCTCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAG TGTTGGGATTACAGGCATGAGCCACCGCGCCCAGCCCCCACCTTTCTAAT ATACTATTTATGACTTTTCCCTGCTGTGCTTTCCACCTCCATCTACTGCC ATGTTCTGCCCCAATAGCTACTACACATAAACTTTGTGTTCCAACTATGT AGATGCTTCCCCAGACTTTGTGCACATAATAATTCACGAATTTGTTCCCA GTACTCTCTCTCCCTAAAAATTCTCTCCCCCAGTAAATTTTTAGAAACCT TACTTGATAGAAAGCGAGCATCACAAAGGCAGGGATGGGTATCTCTTGTG TACACTAATATATCCCAACAAATAAGGACGGTTCGCAGAACTAGTACATC CTAACTAAGTTCTTGTTGAATGAGCGATAGAATCTATCAAGGTCAATTCA AATGTCACCTCCTCTCCGAAGCTGTTCCGAACCCTTTTGGATGGAATGCA TAGTTTTTTTCTTTGGGGTTTACTAGTATTTTATTTATTAATATATCATA TTATAACCCACATCATAGCAGTCTTGTATTACAGTTTGTTGTGTGCATTT TCCTCCAGATGATGATGGCTTCCTTAAGAGCAGGTGTAGTGTGCATTCAC CATTTGCCTTCATGGCCCACTATTCCTTTTTTTCTTTCTTTCTTTCTTTT TTTGATACAGAGTCTTGCTCTCTCTCAGGCTGGAGTGCAATGGCACA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03516.hp1 HG03579.hp1 others(1): Show HG02145.hp2 HG03516.hp1 HG03579.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0083 a0001c0001t0001g0150 a0001c0002t0001g0088 others(1): Show a0001c0001t0001g0083 a0001c0001t0001g0150 a0001c0002t0001g0088 a0001c0002t0001g0097	4	162	0.0247	-896	c.109 others(21): Show c.1099-16436_1099-15541del	GRIK1	ENSG00000171189.18	transcript	ENST00000327783.9	protein_coding	7/17				chr21	TogoVar
MAD1L1_chr7_1810795_2237945	1991280	CGAGCACC others(889): Show CGAGCACCGCTGGGTGCCTGAGCACCCGCCCCACCAGAGCGCCACTGCTG GCCTCACGAGCACCGCTGGGTGCCTGAGCACCCGCCCCACCAGAGCGCCA CTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCCGCCCCACCAGA GCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCCGCCCC ACCAGAGCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCACC TGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTG AGCACCTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCGCCGCTGGG TGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCGCC GCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGGCCTCACG AGCGCCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGGC CTCACGAGCGCCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCACT GCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGC GCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCTGCCCCAC CAGAGCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCTG CCCCACCAGAGCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAG CACCTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTG CCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCACCGC TGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGGCCTCAT	C C	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02630.hp1 HG02647.hp1 others(4): Show HG01074.hp1 HG02630.hp1 HG02647.hp1 HG03516.hp2 HG04199.hp1 NA19081.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 a0001c0001t0001 a0001c0001t0002 a0001c0006t0001	a0001c0001t0001g0154 a0001c0001t0001g0211 a0001c0001t0002g0109 others(4): Show a0001c0001t0001g0154 a0001c0001t0001g0211 a0001c0001t0002g0109 a0001c0001t0002g0175 a0001c0001t0002g0233 a0001c0001t0002g0239 a0001c0006t0001g0237	7	262	0.0267	-896	c.141 others(20): Show c.1416+9889_1417-10740del	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	14/18				chr7	TogoVar
RAB40C_chr16_585066_634268	611798	CAAGGGAC others(889): Show CAAGGGACAGCCGCCTTCGCCTGTAGAATCAAGAGCAGGGACAGCCGCCC TGGCCTGTAGAATCAAGAGCACGGGACAGCCGCCCTGGCCTGTAGAATCA AGAGCACGGGACAGCCGCCCTGGCCTGTAGAATCAAGAGCAGGGACAGCC GCCCTGGCCTGTAGAATCAAGAGCAAGGGACAGCCGCCCTGGCCTGTAGA ATCAAGAGCAAGGGACAGCCGCCTTTGCCTGTAGAATCAAGAGCAGGGAC AGCCGCCCTGGCCTGTAGCATCAAGAGCAAGGGACAGCCGCCCTGGCCTG TAGAATCAAGAGCAGGGACAGCCGCCCTGGCCTGTAGAATCAAGAGCAGG GACAGCCGCCCTGGCCTGTAGAATCAAGAGCAGGGACAGCCGCCCTGGCC TGTAGAATCAAGAGCAGGGACAGCCGCCCTGGCCTGTAGAATCAAGAGCA GGGACAGCCGCCCTGGCCTGTAGAATCAAGAGCAGGGACAGCCGCCCTGG CCTGTAGAATCAAGAGCAGGGACAGCCGCCCTGGCCTGTAGAATCAAGAG CAGGGACAGCCGCCCTGGCCTGTAGATTCAAGAGCAGGGACAGCCGCCCT GGCCTGTAGAATCAAGAGCAAGGGACAGCCGCCTTCGCCTGTAGAATCAA GAGCAGGGACAGCCGCCCTGGCCTGTAGAATCAAGAGCACGGGACAGCCG CCCTGGCCTGTAGAATCAAGAGCACGGGACAGCCGCCCTGGCCTGTAGAA TCAAGAGCACGGGACAGCCGCCCTGGCCTGTAGAATCAAGAGCAGGGACA GCCGCCCTGGCCTGTAGAATCAAGAGCAAGGGACAGCCGCCTTTGCCTGT AGAATCAAGAGCAGGGACAGCTGCCCTGGCCTGTAGCATCAAGAGCA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02572.hp2 HG02451.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0179 a0001c0001t0007g0325 a0001c0001t0003g0179 a0001c0001t0007g0325	2	313	0.0064	-896	c.143 others(17): Show c.143-5408_143-4513del	RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding	1/5			INFO_REALIGN_3_PRIME	chr16	TogoVar
SDHA_chr5_213320_262082	260750	TCACAGCA others(889): Show TCACAGCATTACCGTGTGAGCTCCGCCTCCCGACAGAGCATTACCGTGTG AGCTCCGCCTCCTGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAG AGCATTACCGTGTGAGCTCCGCCTCCCGTCCGAGCATTACCGTGTGAGCT CCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCCCCCGCCACAGCA TTACCGTGTGAGCTCCGCCTCCCGTCCGAGCATTACCGTGTGAGCTCCGC CTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTAC CGTGTGAGCTCCGCCTCCCGTCCGAGCATTACCGTGTGAGCTCCGCCTCC CGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTG TGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTC AGAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAG CTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCCGCAGAG CATTACCGTGTGAGCTCCGCCTCCCGGCAGAGCATTACCGTGTGAGCTCC GCCTCCCGGCAGAGCATTACCGTGTGAGCTCCGCCTCCCGGCAGAGCATT ACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCT CCCGGCAGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCG TGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCG TCAGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTG AGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	178	0.0056	-896	c.43 others(11): Show c.4331_*5226del	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding			3669		chr5	TogoVar
BRSK2_chr11_1384934_1467689	1430118	GTCTGGTC others(888): Show GTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTC TGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGG TCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCA GGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGT TTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTT GCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCC ACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACT GTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTG CCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTC AGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGC AGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCA GTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTG AGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGC GTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCG TCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCT TCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCT GCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCG GTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGC	G G	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0155 a0002c0002t0002g0155	1	344	0.0029	-895	c.92- others(15): Show c.92-5921_92-5027del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19				chr11	TogoVar
EXD3_chr9_137301896_137428162	137328901	ACTACACA others(887): Show ACTACACAGGGTCACACGGGACTACACGGGACTACACGGGGCTACACGGG GCTACACGGGGCTACACGGGAGCTACACGGGACTACACGGGGCTACACGG GGCTACACGGGGCTACACGGGAGCTACACGGGGCTACACGGGGCTACACG GGGCTACACGGGAGCTACACGGGACTACACGGGGCTACACGGGACTACAC GGGGCTACACGGGGCTACACGGGGCTACACGGGAGCTACACGGGAGCTAC ACGGGGCTACACGGGGCTACACGGGAGCTACACGGGACTACACGGGGCTA CACGGGGCTACACGGGACGACACGGGGCTACACGGGGCTACACGGGAGCT ACACGGGGCTACACGGGGCTACACGGGAGCTACACGGGGCTACAGGGGGC TACACGGGGCTACACGGGACTACACGGGAGCTACACGGGGCTACACGGGG CTACACGGGACTACACGGGAGCTACACGGGAGCTACACGGGACTACACGG GGCTACACGGGGCTACACGGGGCTACACGGGAGCTACACGGGAGCTACAC GGGGCTACACGGGAGCTACACGGGAGCTACACGGGACTACACGGGGTCAC ACGGGACTACACGGGACTACACGGGACTACACGGGGTCACACGGGACTAC ACGGGACTACACGGGACTACACGGGGCTACACGGGACTACACGGGACTAC ACGGGGTCACACGGGACTACACGGGACTACACGGGACTACACGGGACTAC ACGGGGCTACACGGGACTACACGGGACTACACGGGGTCACACGGGACTAC ACGGGACTACACGGGACTACACGGGACTACACGGGGTCACACGGGACTAC ACGGGACTACACGGGGTCACACGGGACTACACGGGACTACACGGG	A A	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0006 a0006	a0006c0018 a0006c0018	a0006c0018t0001 a0006c0018t0001	a0006c0018t0001g0029 a0006c0018t0001g0029	1	53	0.0189	-894	c.199 others(19): Show c.1999-5652_1999-4759del	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21				chr9	TogoVar
NDUFAF2_chr5_60940205_61158026	61083562	CATCCTGA others(887): Show CATCCTGACCATGCTGGCCATCCTTTCACCATGTTGAGATCCTGACCTCA AGTGATCTGCCCACCTCGGCCTCCCAAAAGTGCTGGGATTACAGGTGTGA GCCACCCCTCCGGCCTGTAGTTTTCAACTATAGATCTTGCACATGTTTTA TTAAACTAATACCTAAGTGTTTCTTGATTTTTTTGGTGCTATTGCTAGTT GTTTTCTATTTTAATTTCAAATTATTCATTGGTAATACATAGAAATACAA TTGATTTTGTATATCAACTGTGTACTTTTAAGTGATATTGTTAAACTCAC TTATCAATTGTATCATCTTTACTGTAAACTTCTTGTGGTTGTCTGCATAA ACAATCTTTTCCTTCTGTTTCTTCTATTCTCATGCGTAAGCCTTTGTTTT TTCTTGCCTTACTGCACTGGCAAGGAACCTCCACAATAATGATGAGTAGA ACTGGTAAAAGTGAACAACTTTGCCTTGTTCTTGATCTTAGCAGGAAAGC ATTCAGTTTTTCACTGTTAGGTATGATATTAGCTGTAAGGTTTTTTAGAT GCCTGCTGTCAGATTAAAAAGCTGTCTTCTATTCCTCGGTTGCTGGGCAT TTTTATCATGAATGCTGTTGGATTTTGTCAAATGTATTTTCTTCATTTAT TGAGATTATTTTTATGATTATTTTTTTTCATTCTGTTAATATGATTTATT ACATTGATTGATTTTATTTTTAAATTATCCTCCCTTTTCATTGTGGTAAA GTATACATAACATAAAAATTTCCATTTTAGCCATTTTTAAGTATACAGTT CAGTGGCTGTAGGTACATTCACTGTTTGCAACTATCAGCAGCATTCATCG CCAGAACTTTTTTCATCTTCCCAAACTGAAACTTCATGCCCATTG	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG03927.hp2 HG00639.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0014 a0001c0001t0001g0019	2	264	0.0076	-894	c.217 others(19): Show c.217+10350_217+11243del	NDUFAF2	ENSG00000164182.12	transcript	ENST00000296597.10	protein_coding	2/3			INFO_REALIGN_3_PRIME	chr5	TogoVar
PPIL2_chr22_21661012_21702907	21692401	ACCTTGGC others(887): Show ACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCTG GCCAATCCTGACAATCTTAAATGTGGACTTAATTCTTCAGGTGGTCTGTT GCGTTCTATGATCTTGTTGCTTTCTAGTTACCATTTTTTATATTTATTTT CATTTGCTTCTCTTCTCTTTCTGCTGGTTTGGAAATTAGATGTTTTACTT CTGGTCTAAGGTTAAGAAGGACATCTATTTAAAGTCCAAAGTTGGCCAGG TGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGT GGATCACAAGGTCAAGAGATTGAGACCATCCTGGCTAACACAGTGAAACC CCGTCTCTACTAAAAATGCAAAAAAATTAGCTGGGCGTGATGGCGGGCGC CTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGACTATGACATGAACCT GGGAGGCGGAGCTTGCAGTGAACCGACATCGCGCCACTGCACTCCAGCCT GGGGGACAGAGCAAGATTCCATCTCAAAAAAAAAAAAAAAAGTCCAAAGT TATGAGGTAGTCTCTGCCTTCCTCCCAGACCAGGCTGGCAGAAACTCTCT CCTCGTCTCATGGCAGTGCTGTTGGCTGTTTTAATTCCACCCCATTTCCT TTTTTCTTTTTCTTTTTTCTTGAGACAGACTCTGTCGCCCAGGCTGGAGT GCAGTGGTGTGATCTCAGCTTACTGCAACCTCTGCCTCCCAGGTTAAAGC GATTCTCCTGCCTTGGCCTCCTAAGTAGTTGGGACTACAGGCACACGCCA CCACGCCCAGCTAATTTTTGTATTTTTAATAGGGACAGGGTTTTACCATG TTGGCCAGGCTGGTCTCCAACTCCTGGCCTCAAGTGATCTACCTG	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	353	0.0028	-894	c.114 others(18): Show c.1140-1364_1140-471del	PPIL2	ENSG00000100023.20	transcript	ENST00000398831.8	protein_coding	15/19			INFO_REALIGN_3_PRIME	chr22	TogoVar
ROBO2_chr3_77035099_77654964	77293546	ACTAAAGA others(887): Show ACTAAAGACATAAAGTAAAATTGACGGGTAAACGGGTAAGCTGAGGCTAG ATCACCCCAGACACAAAGTAAAATTGACGGTTAAACGGGTAAGCTGAGGC TAGATCACCCAGACATAAAGTAAAATTGATGGTTAAATGGGAAGTTGAGG CTAGAACAGTAAAGACATAAAGTAAAATTGATGGTTAAACGGGTAAGCTG AGGCTAGATCACCCCAGACATAAAGTAAAATTGATGGTTAAACGGGAAGT TGAGGCTAGAACAGTAAAGACATAAAGTAGAATTGATGGTTAAACGGGTA GGCTGAGGCTAGATCACCCCAGATGTAAAGTAAAATTGACGGCTAAACGA GTAAGCTGCAGCTAGATCACCCCAGACATAAAGTAAAATTGATGGTTAAA CGGGTAAGCTGAGGCTAGATCACCCCAGACATAAAGTAAAATTGACGGTT AAACGGGTACACTGAGGCTAGATCACCCAGACATAAAGTAAAATTGAAGA TTAAATGGGAAGTTGAGGCTAGAACAGTAAAGACATAAAGTAAAATTGAT GGTTAAACGGGTAAGCTGAGGCTAGATCACCCCAGACATAAAGTAAAATT GATGGTTAAACGGGTAAGCTGAGGCTAGATCACCCCAGATGTGAAGTAAA ATTGACGGCTAAAAGGGTAAGCTGAGACTAGATCACCCCGGACATAAAGT AAAATTGATGGTTAAACGGGAAGTTGAGGCTAGAGCACTAAAGACATAAA GTAAAATTGACGGTTAAACGGGTAAGCTGAGGCTAGATCACCAAAGACAT AAAGTAAAATTGATGGTTAAACGGGTAAGCTGAGGCTAGGTCACCAAAGA CATAAAGTAAAATTAATGGTAAAACGGGAAGTTGAGCCTAGATCC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01978.hp2 HG02109.hp1 others(20): Show HG00280.hp2 HG01978.hp2 HG02109.hp1 HG02109.hp2 HG02293.hp2 HG02559.hp1 HG02630.hp1 HG02630.hp2 HG02895.hp2 HG03098.hp1 HG03195.hp1 HG03209.hp2 HG03516.hp1 HG03540.hp1 NA18522.hp1 NA18986.hp1 NA19000.hp2 NA19043.hp2 NA19056.hp2 NA19060.hp2 NA19079.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0021 a0001c0001t0032 a0001c0002t0002 a0001c0002t0026 a0002c0003t0007 a0003c0004t0002	a0001c0001t0001g0064 a0001c0001t0001g0126 a0001c0001t0002g0128 others(20): Show a0001c0001t0001g0064 a0001c0001t0001g0126 a0001c0001t0002g0128 a0001c0001t0003g0048 a0001c0001t0004g0010 a0001c0001t0004g0109 a0001c0001t0004g0148 a0001c0001t0005g0050 a0001c0001t0005g0155 a0001c0001t0006g0021 a0001c0001t0006g0031 a0001c0001t0008g0028 a0001c0001t0010g0131 a0001c0001t0012g0045 a0001c0001t0014g0082 a0001c0001t0021g0016 a0001c0001t0032g0102 a0001c0002t0002g0087 a0001c0002t0002g0105 a0001c0002t0026g0081 a0002c0003t0007g0116 a0003c0004t0002g0092 a0003c0004t0002g0141	23	160	0.1438	-894	c.389 others(21): Show c.389-183805_389-182912del	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27			INFO_REALIGN_3_PRIME	chr3	TogoVar
INSR_chr19_7107265_7299414	7263278	CAAAAAAA others(886): Show CAAAAAAAAAAAAAGTTAAGATGAAAAATTTATTCTATGTGTATTTTATC ACAATACAAGAAATTGAAGAGGGGAAAGAAAGCTGAAGCTGAGTTGCTCT CAAAGACAGGGGCAACAGTTCAAAAAACAATCATTTTTTGGCCCCCTGGG GATACTGCTACTAATGGATGGCTGAGATATATACCACATGCCAGGAACCC GGTACCCCGGGAAGTGTTAGTCGCACCTTCTCCGGGTAACAAAACCCCCA GTACTGGAAAAACAAGCCCGGTTCTTTTTATTGTTTTGTTTTGTGTTCAT TTTTGTTTTTGTTTTCTTTTGTTTTTGAGATAGAGTCTCAGTTTGTCACC CAGGCTGGAGCTCAGTGGCATGAACAGGGCTCAGTGCAGCTTCGACCTCC TGGACACAAAAGCCTGGTTCTTAATAGCAAAGCAATTTTTAATTCACTCA AAACATCAGGCACAGCCAGGCACAGCCAGGCACAGTGGCCGATGCATGTA ATCCCAGCACTTTGGGAAGCCGAGGTGCTTGAGCTCAGAAATTTGAGACC AGCCTGACCAACATGGCCAAACCCTGTCTCTACAACATACACAAAACTTA GCTAGGTGTTGGCCAGGCACGGTGGCTCACCCCTGTAATCCCAGCACTTT GGGAGGCCAAGGCGGGCAGATCACCTGAGGTCGGGAGTTCGAGACCAGCC TGGCCAACATGGAGAAATCCCATCTCTACTAAAAATACAAAATTAGCTGG GTGTGGTGGCGCATGCCTGTAATCCTAGCTACTCGGGAGGCTGAGGCAGG AGAATCGCTTGAAGCCAGGAGGCAGAAATTGCGGTGAGCCAAGATCATGC CATTGCACTCCAGCCTGGGCAACAAAAGCGAAACTCCATCTCAA	C C	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0049 a0001c0049	a0001c0049t0026 a0001c0049t0026	a0001c0049t0026g0080 a0001c0049t0026g0080	1	293	0.0034	-893	c.652 others(17): Show c.652+3174_652+4066del	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	2/21				chr19	TogoVar
MYT1L_chr2_1784113_2336275	2034396	AACAATCT others(886): Show AACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTC CCCAACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTT CTCCCCAACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAA CTTCTCCCCACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCT AACTTCTCCCCACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTC CTAACTTCTCCCCAACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAG CTCCTAACTTCTCCCCACAATCTCCACCCTCCAATGCGGGTGCAGAAGAG AGCTCCTAACTTCTCCCCACAATCTCCACCCTCCAATGCGGGTGCAGAAG AGAGCTCCTAACTTCTCCCCACAATCTCCACCCTCCAATGCGGGTGCAGA AGAGAGCTCCTAACTTCTCCCCAACAATCTCCACCCTCCAATGCGGGTGC AGAAGAGAGCTCCTAACTTCTCCCCACAATCTCCACCCTCCAATGCGGGT GCAGAAGAGAGCTCCTAACTTCTCCCCAACAATCTCCACCCTCCAATGCG GGTGCAGAAGAGAGCTCCTAACTTCTCCCCACAATCTCCACCCTCCAATG CGGGTGCAGAAGAGAGCTCCTAACTTCTCCCCAACAATCTCCACCCTCCA ATGCGGGTGCAGAAGAGAGCTCCTAACTTCTCCCCAACAATCTCCACCCT CCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTCCCCAACCATCTCCAC CCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTCCCCAACCATCTC CACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTCCCC	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02698.hp1 HG03098.hp1 others(6): Show HG00544.hp1 HG02698.hp1 HG03098.hp1 HG03239.hp1 NA19009.hp2 NA19010.hp2 NA19060.hp1 NA19065.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0007 a0001c0002 a0001c0004 a0001c0007	a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 a0001c0007t0002	a0001c0002t0001g0072 a0001c0002t0002g0033 a0001c0002t0002g0042 others(6): Show a0001c0002t0001g0072 a0001c0002t0002g0033 a0001c0002t0002g0042 a0001c0002t0002g0045 a0001c0002t0002g0047 a0001c0002t0002g0048 a0001c0004t0001g0040 a0001c0004t0001g0102 a0001c0007t0002g0069	9	101	0.0891	-893	c.-15 others(21): Show c.-158+18689_-158+19581del	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	4/24				chr2	TogoVar
MYT1L_chr2_1784113_2336275	2034523	CGGGTGCA others(886): Show CGGGTGCAGAAGAGAGCTCCTAACTTCTCCCCACAATCTCCACCCTCCAA TGCGGGTGCAGAAGAGAGCTCCTAACTTCTCCCCACAATCTCCACCCTCC AATGCGGGTGCAGAAGAGAGCTCCTAACTTCTCCCCAACAATCTCCACCC TCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTCCCCACAATCTCCAC CCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTCCCCACAATCTCC ACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTCCCCACAATCT CCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTCCCCAACAA TCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTCCCCAC AATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTCCCC AACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTC CCCACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTC TCCCCAACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAAC TTCTCCCCAACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCT AACTTCTCCCCAACCATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCT CCTAACTTCTCCCCAACCATCTCCACCCTCCAATGCGGGTGCAGAAGAGA GCTCCTAACTTCTCCCCACAATCTCCACCCTCCAATGCGGGTGCAGAAGA GAGCTCCTAACTTCTCCCCAACAATCTCCACCCTCCAATGCGGGTGCAGA AGAGAGCTCCTAACTTCTCCCCAACAATCTCCACCCTCCAATGT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG03834.hp1 HG03942.hp2 HG00438.hp1 HG03834.hp1 HG03942.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0006 a0001c0002 a0001c0004 a0001c0006	a0001c0002t0001 a0001c0004t0001 a0001c0006t0007 a0001c0002t0001 a0001c0004t0001 a0001c0006t0007	a0001c0002t0001g0060 a0001c0004t0001g0083 a0001c0006t0007g0098 a0001c0002t0001g0060 a0001c0004t0001g0083 a0001c0006t0007g0098	3	102	0.0294	-893	c.-15 others(21): Show c.-158+18562_-158+19454del	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	4/24				chr2	TogoVar
PADI4_chr1_17303197_17369004	17315532	AACATTCC others(886): Show AACATTCCACCATCCTGACATCAGCCACCACCATCCCTTACAGCGCAGGA GCCCCTACATCCCAGGCCACTGGGACATGGTTTTTTGCTTCCATGGCCCT TCGGGAAGGACCCCCAACACTGGCTCCTTTGGTCAAAGACTGCAGTGTGA GTTCAACAGGAGAGAGAGAAGGGGAGGAGCAAGTAAAAGAAAACTTTCTA AAAATCGGTGCCTGCTGTGACCCACACCCTTTTCTCATACCTTCCCTTGT AGCCCTGGGAAAGAGGAATTCTTCCTTTCCATTTTTGGAGAAAATTCTGG GATCCTACACTGGGTTCCCATTCAGGGGCTGCTCTCTCAACCCCCAGTCC CCACCCACGGTGACCTCACAGCCCCCAGGGCTACACCTGTCACTTGAACC TGGCTGCCTCCCTGATGACCCACAGCTCTGCCCTGACCCCTCCTCTCTCG GCCCCTATCCACAGGGTGCCTCCACCCAGATGGCCCGGCAAAAACAAAAC CAGCCTGGCTCCCTGCCTTTTCCTCCTCCTGATGAGGAGGCTGCCACCCC CATCTTCCCATTTATGTCGATAACACTCCTGGCTGGATGCAGTGGCTCAC GCCTATAATCCCAACACTTTGGGAGGCCAAGGTGGGCTGATCACATGAGG CCAGAAGTTTGAGACCAGCCTGGTCAACATGGCGAAACCCCGTCTCTACT AAAAATACAAAAATTAGCTGGGCATGGTGGTGCACGTCTGTAGTCTCAGC TACTAAGGAGGCTGAGGCGGGAGAATCATTTGAACCTGTGAGGTGGAGGT TGCTGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGCA AGACTCTGTCTCAAAAATAAATAAATAGCCAGGCGCGGTGGCTC	A A	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0017 a0017	a0017c0027 a0017c0027	a0017c0027t0001 a0017c0027t0001	a0017c0027t0001g0026 a0017c0027t0001g0026	1	370	0.0027	-893	c.92+ others(15): Show c.92+7221_92+8113del	PADI4	ENSG00000159339.13	transcript	ENST00000375448.4	protein_coding	1/15			INFO_REALIGN_3_PRIME	chr1	TogoVar
TMEM132D_chr12_129066726_129909025	129858125	TGTAACGG others(886): Show TGTAACGGAGTCCGGGGGAACGGGATGGGTGCCCTTATAACAGAGTCCGG GGGAGCGGGATGGGTGTAACAGAGTCCGGGGAAACGGGATGGGTGCCCTT GTAACAGAGTCCAGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGG GGAACGGGATGGCTGCCCTTGTAACAGAGTCCGGGGGAACGGGATGGGTG CCCTTATAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGT CCGGGGGAACGGGATGGGTGCCCTTATAACAGAGTCCGGGGGAACGGGAT GGGTGCCCTTGTAACGGAGTCCAGGGGAACGGGATGGGTGCCCTTGTAAC GGAGTCCAGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCAGGGGAAC GGGATGGGTGCCCTTGTAACAGAGTCCGGGGGAACGGGATGGGTGCCCTT GTAACAGAGTCCGGGGAAACGGGATGGGTGCCCTTGTAACAGAGTCCTGG GAAACGGGATGGGTGCCCTTGTAACAGAGTCCGGGGAAACGGGATGGGTG CCCTTGTAACAGAGTCCGGGGAAACGGGATGGGTGCCCTTGTAACAGAGT CCGGGGAAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGAAACGGGAT GGGTGCCCTTGTAACGGAGTCCGGGGAAACGGGATGGGTGCCCTTGTAAC GGAGTCCGGGGGAGCGGGATGGGTGCCCTTGTAACAGAGTCCGGGGGAAC GGGATGGGTGCCCTTATAACAGAGTCCGGGGGATGGGATGGCTGCCCTTG TAACGGAGTCCGGGGGAACGGGATGGGTGCCCTTGGAGTCCGGGGGAACG GGATGGGTGCCCTTGGAGTCCGGGGGAACGGGATGGGTGCCCTA	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02145.hp1 HG02698.hp1 others(2): Show HG00741.hp2 HG02145.hp1 HG02698.hp1 HG02809.hp2 HG03225.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0003c0005	a0001c0001t0008 a0001c0001t0010 a0001c0002t0004 others(2): Show a0001c0001t0008 a0001c0001t0010 a0001c0002t0004 a0002c0003t0001 a0003c0005t0001	a0001c0001t0008g0092 a0001c0001t0010g0028 a0001c0002t0004g0077 others(2): Show a0001c0001t0008g0092 a0001c0001t0010g0028 a0001c0002t0004g0077 a0002c0003t0001g0062 a0003c0005t0001g0035	5	92	0.0543	-893	c.79+ others(17): Show c.79+44243_79+45135del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8				chr12	TogoVar
CMTM8_chr3_32233680_32375321	32297446	TTGGGATT others(885): Show TTGGGATTACAGGCGTGAGCCACCGTGCCTGGCCTGTACCTAAACTTTTG ATGAGGCTATTCTTATCTGTGAACCAACATTTGTGACTAAAGCTCACCTT GGGGAATACAGTGGTAACCTTGCACAGAGAATGCTGTGGCTAGCAGCAGC CCCGTCTGGGGTGGCGCAGACACTCCAGGCTGCTTTGTCTGTCTGAAATC CCAGCAGTGTCATCACAGCATCTTGTGCAAAACATTGATGGTGAAAGATA ACAATTTCTTCTATTGCTCACCAGCCTCATTTGGAAAGTTAATTACCAGC TTGTGGAAGTTAAGGAAAGACAAGTTCTTAAACTCAGGGGGATTTGGCAT TTTAAAATACAGGTCTGTGGGTGGGAAAATAAGGTTTGTGTGTGGGAAGG ATTTGGGAAAATGGACTGAGTGTTAATTTAAGGACTTGAAGTGTTTATGA GGGAACCCTGGATAAGAATAACATTTTAAAAATTGGAGATGATGAGAAAC TCAAGCACCAAGGTAAAGAAGTCTGGCTTGTGTTCTTCAACTGGTTTCAT GGTCATCAGCAGCAGCCATTGCTCAGAACTCCAACAAAAGCTCTCTAATC TCTTAACTAAAAACTTTTTTTTTTTTTTTGGTTGGGGGTGGGGGGCAGTG GCTGGAGTCTCGTTCTGTCGCTGAGGCTGGAGTGCAGTGGCACAATCTGG GCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTATCTCAGCCTC CCCAGTAGCTGGGACTACAGGCTCCCACCACCATGCCCAGCTAATTTTTG CATTTTTGGTAGAGACAGGTTTTGCCATGTTGGCCAGGCTGGTCTCAAAC TCCTGATCTCAAGCAATCCACCCGCATTGGCCTCCCTAAGTGC	T T	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01515.hp2 HG02109.hp2 HG01175.hp2 HG01515.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0141 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0141	3	342	0.0088	-892	c.147 others(19): Show c.147+58349_148-59014del	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	1/3			INFO_REALIGN_3_PRIME	chr3	TogoVar
CSNK2B_chr6_31661080_31675067	31670427	ACAAGGTC others(885): Show ACAAGGTCCGGAATTGCTGCTCAGTGATGTGTGTGTGCCTGCCGCTGGTG GAGCTGAGACTGCTCATCTCAGAAGGATGGGGATGCTTGATTTCCTGGCC AGGTTGTCCCAGCACAGTGGGGATTGGCCCTGTTGTATGACGAAGACAGC ACATGGTGGCAGAGATAGATACTAACCCATGGACTTTCCAAGGGAGGGAA TAGGTCTTTGGAGGGTATGCAAGACAAAGGTAGACACTGGATAAAGAACC CGGTAGTGCCCAGGTATTACCCCATCTGGGCCATTACTCCCACACTCAGG AACCAGACGTTGTGGGTGAGGACATGCTGTCCCTCCTGCCAAGTAATAAC TTCCTTCCCAGCCAGGATCCTGCCCCAAGTAGGAATATAGCTCTGCATTT ACAGCAGCTCCTGCTCAGACCTTGTCAAAACCACCCTGCAGCTTAGGATT AAGGAGCATGGTCACAGGAAGGTGGGGTTTCAGGGCATCCCCTCAGGAAC TGCCCATCTCCCCAGAATTCCAAAATGAAGGTCCATATGCTTGTAGGTGT GCTGGTCATGGTGGGCTTCACAGTAGGAAAGGGTAAGTGGGGCCCAGGGG CAGGGAGGGAGGAAGGGGTAACTGAGTCCAGGAAGGGGGTGGAGCGTGGC CATGGATAATCGGGCTTCCTACTGGCCCAGGGTATTTGAGAGTGACCCAG TGCCTCCATCCCTCCTTCTGCCTCCCCAGTTCCTGTTCCCGACATCCGGA CGTGCCACTTCTGCCTCGTAGAAGACCCTTCTGTAGGATGCATTTCAGGC TCAGAGAAGTGTACCATCAGCAGCTCATCCCTGTGCATGGTGATCACCAT CTATTATGGTAAATAAGGTCCCAGGAAGGGGCTGCTGGTGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp1 HG03492.hp1 HG03490.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	2	420	0.0048	-892	c.50 others(10): Show c.502_*1393del	CSNK2B	ENSG00000204435.15	transcript	ENST00000375882.7	protein_coding			361		chr6	TogoVar
DHRSX_chrX_2214506_2505976	2276980	GAAGAGAG others(885): Show GAAGAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGC AAACGAGAGGGAGAGAGGAGGAGAGGGAGGAAATAGGGGGAAAGAGAGAA AGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGAGG GAGAGAGAAGGAAGAGGAGGAAATAGGGGAAAGAGAGAAAGAGAGATGGA GAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGAGGGAGAGAGAAGG AAGAGGAGGAAATGGGGGAAAGAGAGAAAGAGAGATGGAGAGGGAACAGG GAGAGAGAGGGAGGGCAAACGAGAGAGGGAGAGAGAAGGAAGAGGAGGAA ATGGGGGAAAGAAAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAG GGAGGGCAAACGAGAGGGAGAGAGAAGGAGGGGAGGAAATAGGGGAAAGA GAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACG AGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAAAG AGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGA GAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGA GGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGA GGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACAGGGA GAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGG GGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAG GGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGA	G G	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	39	0.0256	-892	c.389 others(19): Show c.389-10925_389-10034del	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6				chrX	TogoVar
GRTP1_chr13_113319163_113369130	113346252	CCGAGAGC others(885): Show CCGAGAGCAGATCCGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGAC CTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCCGAGAGCGGAC CCAGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCT GAGCAGACCTGGGAAGACATCTGTGGCCGAGAACAGACCCAGGAGGACCT CTGTGGACAAGAGCAGACCCGGGAGGACCTCTGTGCCTGACAGTGGACCC GGGAGGACCTCTGTGGCAAAGAGCAGACCCGGGAGGACCTCTGTGGCAAA GAGCAGACCCAGGAGGACCTCTGTGGCCGAGAACAGACCCGGGAGGACCT CTGTGCCTGACAGTGGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCT GGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCAGAGA GCAGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCCGGGAGGACCTCT GTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCAAAGAGCAGACCCGG GAGGACCTCTGTGGACAAGAGCAGACCCGGGAGGACCTCTGTGGACAAGA GCAGACCCGGGAGGACCTCTGTGCCTGACAGTGGACCCGGGAGGACCTCT GTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCTGAGCGGATCTGGGA GGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCTGAGAGC GGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGT GGCTGAGCGGATCTGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGG ACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCAG	C C	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	270	0.0037	-892	c.466 others(17): Show c.466-2185_466-1294del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7				chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346486	GCCTGACA others(885): Show GCCTGACAGTGGACCCGGGAGGACCTCTGTGGCAAAGAGCAGACCCGGGA GGACCTCTGTGGCAAAGAGCAGACCCAGGAGGACCTCTGTGGCCGAGAAC AGACCCGGGAGGACCTCTGTGCCTGACAGTGGACCCGGGAGGACCTCTGT GGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGG ACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCTGAGAGCGG ACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGG CAAAGAGCAGACCCGGGAGGACCTCTGTGGACAAGAGCAGACCCGGGAGG ACCTCTGTGGACAAGAGCAGACCCGGGAGGACCTCTGTGCCTGACAGTGG ACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGG CTGAGCGGATCTGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGAC CTCTGTGGCTGAGAGCGGACCCGGGAGGACCTCTGTGGCTGAGAGCGGAC CTGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCAGA GAGCAGACCCGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCT CTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCAGAGAGCAGACCC AGGAGGACCTCTGTGGCCGAGAGCAGACCCAGGAGGACCTCTGTGGCTGA GAGCGGACCTGGGAGGACCTCTGTGGCTGAGAGCAGACCCGGGAGGACCT CTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCAGAGAGCAGACCCGG GAGGACCTCTGTGGCCAAGAACAGATCCGGGAGGACCTCTGAA	G G	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	281	0.0036	-892	c.466 others(17): Show c.466-2419_466-1528del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7				chr13	TogoVar
LY6G5B_chr6_31664976_31678546	31670427	ACAAGGTC others(885): Show ACAAGGTCCGGAATTGCTGCTCAGTGATGTGTGTGTGCCTGCCGCTGGTG GAGCTGAGACTGCTCATCTCAGAAGGATGGGGATGCTTGATTTCCTGGCC AGGTTGTCCCAGCACAGTGGGGATTGGCCCTGTTGTATGACGAAGACAGC ACATGGTGGCAGAGATAGATACTAACCCATGGACTTTCCAAGGGAGGGAA TAGGTCTTTGGAGGGTATGCAAGACAAAGGTAGACACTGGATAAAGAACC CGGTAGTGCCCAGGTATTACCCCATCTGGGCCATTACTCCCACACTCAGG AACCAGACGTTGTGGGTGAGGACATGCTGTCCCTCCTGCCAAGTAATAAC TTCCTTCCCAGCCAGGATCCTGCCCCAAGTAGGAATATAGCTCTGCATTT ACAGCAGCTCCTGCTCAGACCTTGTCAAAACCACCCTGCAGCTTAGGATT AAGGAGCATGGTCACAGGAAGGTGGGGTTTCAGGGCATCCCCTCAGGAAC TGCCCATCTCCCCAGAATTCCAAAATGAAGGTCCATATGCTTGTAGGTGT GCTGGTCATGGTGGGCTTCACAGTAGGAAAGGGTAAGTGGGGCCCAGGGG CAGGGAGGGAGGAAGGGGTAACTGAGTCCAGGAAGGGGGTGGAGCGTGGC CATGGATAATCGGGCTTCCTACTGGCCCAGGGTATTTGAGAGTGACCCAG TGCCTCCATCCCTCCTTCTGCCTCCCCAGTTCCTGTTCCCGACATCCGGA CGTGCCACTTCTGCCTCGTAGAAGACCCTTCTGTAGGATGCATTTCAGGC TCAGAGAAGTGTACCATCAGCAGCTCATCCCTGTGCATGGTGATCACCAT CTATTATGGTAAATAAGGTCCCAGGAAGGGGCTGCTGGTGGGG	A A	exon_loss_variant exon_loss_variant	HIGH	HG03490.hp2 HG03492.hp2 HG03490.hp2 HG03492.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0017 a0005c0007t0017	a0005c0007t0017g0005 a0005c0007t0017g0005	2	414	0.0048	-892	c.-52 others(11): Show c.-521_187+37del	LY6G5B	ENSG00000240053.9	transcript	ENST00000375864.5	protein_coding	2/3	455/2845		INFO_REALIGN_3_PRIME	chr6	TogoVar
PRKCZ_chr1_2045411_2190395	2121985	CACGGCGG others(885): Show CACGGCGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCGTGGTAGTTAGGT TCATGGTGGTGGTTAGGGTCGTGGTGGTTAGGGTCACGGTGGTAGTTAGG GTCGTGGTGGTTAGGGTCATGGTGGTGGTTAGGGTCACGGTGGTGGTTAG GGTCGTGGTGGTTAGGGTCGTGGTGGTTAGGGTCGTGGTGGTTAGGGTTG TGGTGGTTAGGGTGGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTCGTG GCGGTGGTTAGGGTTGTGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCAC GGTGGTGGTTAGGGTCACGGTGGTAGGGTCGTGGTGGTTAGGGTCGTGGC GGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTCACGG TGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCACGGTGGTAGGGTCGTGG TGGTTAGGGTCGTGGCGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTG GTGGTTAGGGTCACGGTGGTAGTTAGGGTCACGGTGGTGGTTAGGGTCAT GGTGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCGTGGTGGTTAGGGTTG TGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTCACGGTGGTGGTTAGGGTT GTGGTGGTTAGGGTTGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGT GGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCGTGGTGG TTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTT AGGGTCGTGGCGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTCGTGGCGGT GGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCACG	C C	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	1	273	0.0037	-892	c.335 others(19): Show c.335-13276_335-12385del	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17				chr1	TogoVar
TCF25_chr16_89868592_89916379	89901367	AGCTGTGA others(885): Show AGCTGTGAGGGGTGAGGGTGAAATCCCTCCTTAAGACGAGCCTCCTCTGA GGGGCTGTGAGGGGTGAGGGTGAAATCCCTCCTTAAGACGGGCCTCCGGC CGGGCGCGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGT GGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGACTAACACGGTGA AACCACGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGTTGGCGGG CACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAA CCCAGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAG CCTGGGCAACATAGTGAGACTCCGTCTCAAAAAAAAAGAAAAAAAAAAAA AAGACGGGCCTCCTCCGAGGGGCTGTGAGGGGTGAGGGTGAAATCCCTCC TTAAGACGGGCCTCCTCCGAGGGGCTGTGAGGGGTGAGGGTGAAATCCCT CCTTAAGATGGGCCTCCTCCGAGGGGCTGTGAGGGGTGAGGGTGAAATCC CTCCTTAAGACGGGCCTCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCC TAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCTGACTAACACGGTGAAACCACGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTGTTGGCGGGCACCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCATGAACCCAGGAGGCAGAGCTTGCAGTGAGCCG AGATCGCGCCACTGCACTCCAGCCTGGGCAACATAGTGAGACTCCGTCTC AAAAAAAAAGAAAAAAAAAAAAAAGACGGGCCTCCTCCGAGGG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp1 HG02486.hp1 others(3): Show HG01243.hp2 HG01884.hp1 HG02486.hp1 HG02615.hp1 HG03098.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0172 a0001c0001t0001g0174 others(3): Show a0001c0001t0001g0162 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0191	6	297	0.0202	-892	c.138 others(18): Show c.1381+611_1381+1502del	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	12/17			INFO_REALIGN_3_PRIME	chr16	TogoVar
ADARB2_chr10_1172313_1742525	1235709	CCCTGTGT others(884): Show CCCTGTGTCCTGGTGTTACTCCCCTGCTTTCAGGTGATCCACCCGCCTGG GCCCCCCAAAGAGCTGGGATTACAGGCGAGAGCCACCACACTGGGCCCCA CCATGATCTTTTAACAAGCCAATTTTTCCCACTGCTGTTCGCCCACATCT ATCTGTCTACACACCTGTGATTCTGTGGATTTGCCAGTGCTGCTCATGGC CATACCTCACAGTGGACTGTGGGTTTGACGTAGCCTGAGTGGGCAGCTTG TGTGTGATTAAAAGGAGGAAAAGAGCTGTAGGAAGGCCTGGGCTCCGTCA CCAGCACAGGTGGGAGTGGAGAACCGTGGCGAAACGGCTTTCCTTCTGCA TCCAGCCATGACCCAGGTGGGGCGGGAGAGTTCCCAGCCTCTCTGATGGT GAATGATTTGCCTGTTGCAAAACTCCCACCAGCTGTGAAGCTGGAGCTGA GCAGCCCCACCTCTGCCCCATCGGAGTGGGCGCTGAACGAACATGCCTGC ATTTCCTTCTTCGGTGTTTACCCTCTGTCTCCCGGTGTTTACTCCCCTCT CCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCC CTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCCCTGCCT CCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCTCTGCCTC CCGGTGTTTACTCCCCCCTGCCTCCAGCCATGACCCAGGTGGGGCGGGAG AGTTCCCAGCCTCTCTGATGGTGAATGATTTGCCTGTTGCAAAACTCCCA CCAGCTGTGAAGCTGGAGCTGAGCAGCCCCACCTCTGCCCCATCGGAGTG GGCGCTGAACGAACATGCCTGCATTTCCTTCTTCGGTGTTTA	C C	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG03139.hp2 NA18983.hp1 others(2): Show HG01433.hp2 HG03139.hp2 NA18983.hp1 NA19070.hp2 NA19086.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0006 a0001c0001 a0002c0002 a0003c0006	a0001c0001t0003 a0001c0001t0017 a0001c0001t0058 others(2): Show a0001c0001t0003 a0001c0001t0017 a0001c0001t0058 a0002c0002t0065 a0003c0006t0003	a0001c0001t0003g0097 a0001c0001t0017g0030 a0001c0001t0058g0099 others(2): Show a0001c0001t0003g0097 a0001c0001t0017g0030 a0001c0001t0058g0099 a0002c0002t0065g0086 a0003c0006t0003g0090	5	99	0.0505	-891	c.136 others(19): Show c.1362-2755_1362-1865del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9				chr10	TogoVar
FLT4_chr5_180596506_180654600	180635086	GTGGATGG others(884): Show GTGGATGGATGGATGGATGGAAGTATGGGTGGAGGGGTGGGTGGATGGAT GCATGGATGGATGGAAGGGTGGGTGGATGGATGGATGGAAGTATGGGTGG ATGGGTGGGTGGGTGGATGGATGGATGGAAGTATGGGTGGATGGGTGGGT GGGTGGATGGATGGATGGAAGTATGGGTGGATGGGTGGGTGGGTGGATGG ATGGATGGAAGTATGGGTGGATGGGTGGATGGATGCATGGATGGATGGAA GTATGGGTGGATGGGAGGGTGGGTGGATGGATGGATGGATGGAAGTATGG GTGGATGGGAGGGTGGGTGGATGGATGGATGGATGGAAGTATGGGTGGAT GGGAGGGTGGGTGGATGGATGGATGGAAGTATGGGTGGATGGGTGGGTGG GTGGTGGGATGGAAGTGTGGGTGGATGGGAGGGTGATGGATGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGA TGTATGGATGGATGGATGGATGGATGGGTGGATGGATGGATGGATGGATG GATGGATGGATGGATGGGTGGATGGATGGATGGGTGGGTGGGTGGGTGGA TGGATGGATGCATGGATGGAAGTATGGGTGGATGGGTGGGTGGGTGGGTG GATGGATGCATGGATGGAAGTATGGGTGGATGGGTGGGTGGATGGATGGA TGGGAGTATGGGTGGATGGGTGGGTGGGTGGGTGGATGGATGGATGGACG GATGGAAGTATGGGTGGATGGGTGGGTGGGTGGATGGATGAA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0278 a0002c0004t0005g0278	1	374	0.0027	-891	c.59- others(15): Show c.59-4199_59-3309del	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	1/29				chr5	TogoVar
MPPED1_chr22_43407014_43512848	43496032	AGGTGGTG others(884): Show AGGTGGTGGTGGTGGAGGTGGTGATGGTGGAGGTGGTGGTGGAGGTAGTG GTGGTGGAGGTAGTGGTGGTGGAGATGGTGGTGGTGGAGGTGGTGGTGGT GGAGGTGGTGATGGTGGAGGTGGTGGTGGTGGAGGTGGTGATGGTGGAGG TGGTGGTGGAGGTAGTGGTGGTGGAGGTAGTGGTGGTGGAGATGGTGGTG GTGGAGGTGGTGGTGGAGGTGGTGGTGGAGGTAGTGGTGGTGGAGATGGT GGTGGTGGAGGTGGTGGTGGAGGTAGTGGTGGCGGAGATGGTGGTGATGG AGGTGGTGATGGAGGTGGTGGTGGTGGAGGTGGTGGTGGTGGAGGTAGTG GTGGTGGAGATGGTGGTGGTGGAGGTGGTGATGGAGGTGGTGGTGGTGGA GGTGGTGGTGGTGGAGGTAGTGGTGGTGGAGATGGTGGTGGTGGTGGTGG AGATGGTGGTGGTGGAGGTAGTGGTGGTGGAGATGGTGGTGGAGATGGTG GTGGTGGAGATGGTGGTGGTGGAGATAGTGGTGGTGGAGATGGTGGTGGT GGTGGTGGAGATGGTGGTGGTGGAGGTAGTGGTGGTGGAGATGGTGGTGG AGATGGTGGTGGTGGAGGTGGTGGTGGTGGAGGTAGTGGTGGTGGAGATG GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGA AGTGGTGGTGGTGGAGGTAGTGGTGGTGGTGATGGTGGTGGTGGAGGTGG TGGTGGAGGTGGTGGTGGCGGAGGTGGTGGTGGTGGAGGTGGTGGTGGTG GAGGTGGTGGTGGTGGTAGTGGTGGTGGAGGTAGTGGTGGTGGAGATGGT GGTGGTGGAGGTGGTGGTGGTGGAGGTGGTGGTGGTGGAGGT	A A	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0051 a0001c0005t0001g0051	1	205	0.0049	-891	c.633 others(17): Show c.633-2191_633-1301del	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6			INFO_REALIGN_3_PRIME	chr22	TogoVar
PRKCA_chr17_66297613_66815743	66798473	GTGGTGGT others(884): Show GTGGTGGTGGTGGTGACGGTGGTGGTGGTGGTGGTGACGGTGGTGACGGT GGTGGTGATGGTGGTGACGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGG TGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GATGGTGGTGGTGGTGGTGATGGTGATGGTGGTGGTGATGGTGGTGGTGG TGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG TGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATG GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG TGGTGGTGGTGGTGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGACGGTGGTGGT GGTGGTGGTGGTGGTGGTGGTGACGGTGGTGGTGGTGGTGGTGGTGGTGG TGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTG GTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGG TGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0059 a0001c0002t0059	a0001c0002t0059g0178 a0001c0002t0059g0178	1	170	0.0059	-891	c.185 others(19): Show c.1855-5385_1855-4495del	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16			INFO_REALIGN_3_PRIME	chr17	TogoVar
PROSER2_chr10_11818356_11877277	11819320	GTAATTTT others(883): Show GTAATTTTTGTATTTTTTTGTGGAGACGGGGGTCTCATTATGTTGCTCAA GCTGGTCTTGAAATTCTGGGCTCAAGCAATCCTCCTGCCTCAGCCTCCCA AAGTGCTGGGATTACAGGTGTGAGACACCACGCTAGACCTTAAAATTATT TAATGTAGCTAGAACATCTTTCAGCATATAATGACAGGTAAGGGCTTAAC TTGATTATCTTTTCAAATTACTACGTTTCTTACCTCCATTTATTGAGACT CCATCTCTTTTTCATTTATTTTTGATGACTTTTATCACATATGAAAGTGT ACACTACCTTTTCCTGGGTTATATTGTTCTATTATGATACATTTCATCAG TAAAGCCTTAGACTATGTTTCAATAATAAATAGGTCAATTGCCCATATTT TTCTTCATTTTCTTAATTTTGTTAACTTTTCTCACCTATCATTTGTTCAA TTTGTTCAGATACACTTTAAAATACTTTCATTTTAGCCTTACAGGGTAGG CGTTAATAGCCTCATTATATAGATGAGGAACTGAGGCTCAAAAAGGATAA ACAGCTTGAGGTAATAACAAATCATGTCTTTTACATCTCCCCTGTCAGAT CCAAACTGCTGTCGATTTTTTAGTAAAGTTATGAAATTTTCTTACCTTTC TTTCTCCTTTCCTGTCTGCCTCCCTCTAGTGGTCATGATATATATTACAA TATAGTACAGTTTCTGAAGTCTATTTATTTATTTATTTATTTTTGAGACG GAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCTGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC GGAGTAGCTGGGACTACAAGGCGCCCGCCACCACGCCTGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0219 a0001c0001t0005g0219	1	346	0.0029	-890	c.-42 others(11): Show c.-4231_-3342del	PROSER2	ENSG00000148426.14	transcript	ENST00000277570.10	protein_coding			4035		chr10	TogoVar
SLCO4A1_chr20_62637503_62677293	62672898	AGATCAGA others(882): Show AGATCAGAACCCCCGGGTGGTCCCCAGCACTGAGGATGGACGCCACCCTC GCCCTCCGGTGCTCACAGTCTGCAGCGCCTGCCAGGAGTTCTCAAAACCC AATGCGTCGGTCAAGATCCCCCCCAAATTAGGGTACAATCCGGTGCTGGT GACATTTTGATTTGCTAAGTAAGGAGATAAAACACAGCCATAAGGAGAGG GGACCTGGGCTCACCAGGACGCTTGTGTGGAGCTCACTGCTGTGACTGCT GGGCCAGGGAGGGGCATGGGGGGGGCACAGAGGGCCAAGTTGGGAAATGA TGGGGAGCAGGGGGTGCAGGGAGAAACTTCCCGAGGGAGGTGACAGAAGG GAGTGCAGGAACAGACCCTAGAGGGAGTACAGGGGCTCTGGGGAGCCAGG GAAGTGGATCGCCACTCAGAAGGGAGTGGGGAGGACGAGGAACCTCACCA GGTCCCACCTTTGCCATGTTCATCAGGAGTCCGGTTCATCAGGAGTCATC AGAGGTGGGTGGAGCTAGGGTCAGGATGAGGCTCGGGCATGCTGGGCAGT GCCGGCTTCCAGTGACCTGCCTCCTCCGGGTGTCACTGGGACACACTTCC AACAAGCAGGACTTAGCACAGGGCAGATGCCACATCCCTGACCGGGTTAT TAGAGACCACGACACTGCCCAGCCCACCTTCTGACCAGGTTATAAGAGAC CACGACACTGCCCAGCCCACCTTCTCGCCACTCTTCTCAAGGGCTGCCCT GGCGGGAACCCCGCATGGCCAGGAACTGGCCTCTGCCTACGGTCGGCAAG AAACCGGATGCTCAGCCCTGGCCTTCAAGGACTGGAATCCTGCCAAGGGC CACGTGAGCCAACCAAGAGGGGACGACACCCTGTAGCACC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00544.hp1 others(51): Show HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00735.hp2 HG01074.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp2 HG01943.hp1 HG02055.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02155.hp2 HG02165.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02735.hp2 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp2 HG03654.hp2 HG03704.hp2 NA18612.hp1 NA18940.hp2 NA18942.hp1 NA18947.hp1 NA18955.hp2 NA18960.hp1 NA18972.hp2 NA18974.hp2 NA18983.hp1 NA18986.hp2 NA18989.hp1 NA18993.hp1 NA18994.hp1 NA18998.hp1 NA19001.hp1 NA19004.hp1 NA19005.hp2 NA19009.hp1 NA19063.hp1 NA19065.hp1 NA19074.hp1 NA19074.hp2 NA19081.hp2 NA19084.hp1 NA19091.hp2 NA20905.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0008	a0001c0001 a0001c0007 a0001c0029 others(4): Show a0001c0001 a0001c0007 a0001c0029 a0002c0002 a0002c0009 a0004c0005 a0008c0031	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0007t0002 a0001c0029t0001 a0002c0002t0002 a0002c0002t0007 a0002c0009t0007 a0004c0005t0002 a0008c0031t0002	a0001c0001t0001g0009 a0001c0001t0001g0225 a0001c0001t0001g0253 others(43): Show a0001c0001t0001g0009 a0001c0001t0001g0225 a0001c0001t0001g0253 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0026 a0001c0001t0002g0057 a0001c0001t0002g0065 a0001c0001t0002g0078 a0001c0001t0002g0086 a0001c0001t0002g0095 a0001c0001t0002g0109 a0001c0001t0002g0138 a0001c0001t0002g0177 a0001c0001t0002g0185 a0001c0001t0002g0203 a0001c0001t0002g0210 a0001c0001t0002g0300 a0001c0001t0003g0175 a0001c0001t0003g0315 a0001c0001t0003g0356 a0001c0001t0003g0357 a0001c0001t0004g0010 a0001c0001t0004g0012 a0001c0001t0004g0048 a0001c0001t0004g0266 a0001c0001t0004g0270 a0001c0007t0002g0044 a0001c0007t0002g0176 a0001c0029t0001g0332 a0002c0002t0002g0011 a0002c0002t0002g0022 a0002c0002t0002g0103 a0002c0002t0002g0110 a0002c0002t0002g0122 a0002c0002t0002g0125 a0002c0002t0002g0127 a0002c0002t0002g0255 a0002c0002t0002g0257 a0002c0002t0002g0303 a0002c0002t0002g0308 a0002c0002t0007g0041 a0002c0009t0007g0031 a0004c0005t0002g0179 a0004c0005t0002g0180 a0008c0031t0002g0020	54	430	0.1256	-889	c.10 others(11): Show c.1006_*1894del	SLCO4A1	ENSG00000101187.16	transcript	ENST00000217159.6	protein_coding			606		chr20	TogoVar
WWOX_chr16_78094654_79217667	78842762	GATTCATT others(882): Show GATTCATTTGAGCCCAGGAGGCGGAGGTTGCAGTCAACCAAGATCACGCC ACTGCACACCAGCCGGGGGTGACAGAGTGAGACCCTATCTCAAATAAAAA TAAAAATAGAATACAAGGGGGGATAAAGATAGACTTAAAATACGCTCTCT AGAAAAAAGAAAGAAATATGGAAAGAAATCTAATTTAGAAAAATGCACGC ACCCACAGGCACGCTTCACAGGACTGGCAGGTGGAGAGGATGTTTGTTAA CAGGGCTGGCTATTTTACTTTAAGTGCTGCAAACATTGCACTAATGTTTG GGTCTTTGCTTTTGGCAATCACTTCTCTTGTTAATTTTTTTTTGGCACCA TAGAAATGTTTCCATAAATAGTGCATTCAATGGAGTGTGTTACTTTATTA CTGTCAGCCACTGTCCTAGGAGAGGAAAATTCAATAAACACAAAAGCAAA GATTAGAACGTTGAAAGCTTCCAATTCCAGATCCTTCATGAGCTTGTACC TCTAAAGAATGCGATTTTTCTATTTCTCCACCTGCAAAATTCTTACTTTT TGGGCTGGTAAAGCCACCTAGGTCAGTGCCATGTCCAACCCAATCTGGAA AACGATTATTGTGGTGCCTGTTTTGTTGACTTAACAAAGCCAATCGCCCA TTCCTATGCTGCTAAGATGCGAATGCCCAGCTCAGGGGATGAGATTACTG TCAGCTTTGCCTAAGCTTTGGGCATTAGCACCCTCCATATGCAACAAACC CACAAATGACATGTTTTGACTCTTTGACACAGAATGGTTGGAAATCACTT CCTTGGCCAGAGCAGGGGTCCGGTGTAAAGGAGGAAATAAAAATAAAAAA GCATAAATGAATGAGGAAGTGAGCAAATCACACTCATCGA	G G	intron_variant intron_variant	MODIFIER	HG03239.hp1 NA19066.hp1 HG03239.hp1 NA19066.hp1	a0017 a0019 a0017 a0019	a0017c0012 a0019c0020 a0017c0012 a0019c0020	a0017c0012t0004 a0019c0020t0002 a0017c0012t0004 a0019c0020t0002	a0017c0012t0004g0087 a0019c0020t0002g0043 a0017c0012t0004g0087 a0019c0020t0002g0043	2	142	0.0141	-889	c.105 others(23): Show c.1057-368845_1057-367957del	WWOX	ENSG00000186153.19	transcript	ENST00000566780.6	protein_coding	8/8				chr16	TogoVar
CACNA1B_chr9_137872782_138129619	138018008	TCAGGTGC others(881): Show TCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTA GGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCT GATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCC AGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGG CCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGA TGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAG GTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCC ACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATG GAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGT GCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCAC CTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGA AGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGC AGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCT GCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAG TGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAG TTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGC CCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTG GCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGC	T T	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0011 a0011	a0011c0036 a0011c0036	a0011c0036t0014 a0011c0036t0014	a0011c0036t0014g0224 a0011c0036t0014g0224	1	131	0.0076	-888	c.226 others(19): Show c.2268-4293_2268-3406del	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	18/46			INFO_REALIGN_3_PRIME	chr9	TogoVar
RAB31_chr18_9703301_9867551	9815263	CCATCCCT others(881): Show CCATCCCTGAGTGTCATCCGTGTAGATACTGTCCTCCATCCCTGAGTGTC ATCCGTGTAGATGCTGTCCTCCATCCCTGAGTGTCATCCGTGTAGATGCT GTCCTCCATCCCTGAGTGTCATGCGTGTAGATGCTGTCCTCCATCCCTGA GTGTCATCCGTGTAGATGCTGTCCTCCATCCCTGAGTGTCATCCGTGTAG ATGCTGTCCTCCATCCCTGAGTGTCATCCGTGTAGATGCTGTCCTCCATC CCTGAGTGTCATGCGTGTAGATGCTGTCCTCCATCCCTGAGTGTCATCCG TGTAGATGCTGTCCTCCATCCCTGAGTGTCATCCGTGTAGATGCTGTCCT CCATCCCTGAGTGTCATCCGTGTAGATGCTGTCCTCCATCCCTGAGTGTC ATCCGTGTAGATGCTGTCCTCCATCCCTGAGTGTCATCCGTGTAGATGCT GTCCTCCATCCCTGAGTGTCATCCGTGTAGATGCTGTCCTCCATCCCTGA GTGTCATCCGTGTAGATGCTGTCCTCCATCCCTGAGTGTCATCCGTGTAG ATGCTGTCCTCCATCCCTGAGTGTCATCCGTGGAGATGCTGTCCTCCATC CCTGAGTGTCATCCGTGTAGATGCTGTCCTCCATCCCTGAGTGTCATCCG TGTAGATGCTGTCCTCCATCCCTGAGTGTCATCCGTGTAGATGCTGTCCT CCATCCCTGAGTGTCATCCGTGTAGATGCTGTCCTCCATCCCTGAGTGTC ATCCGTGGAGATGCTGTCCTCCATCCCTGAGTGTCATCCGTGTAGATGCT GTCCTCCATCCCTGAGTGTCATCCGTGTAGATGCTGTCCTCCATCCCTGA GTGTCATCCGTGTAGATGCTGTCCTCCATCCCTGAGTGT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00558.hp1 others(50): Show HG00323.hp2 HG00408.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG01099.hp1 HG01928.hp1 HG01978.hp2 HG02015.hp2 HG02080.hp2 HG02109.hp2 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02257.hp1 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02723.hp2 HG02922.hp1 HG03017.hp2 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03579.hp1 HG04204.hp1 NA18747.hp1 NA18947.hp2 NA18949.hp1 NA18963.hp1 NA18963.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18982.hp1 NA18984.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA19001.hp2 NA19010.hp2 NA19063.hp1 NA19068.hp1 NA19080.hp1 NA19086.hp1 NA19087.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0012 a0001c0001t0016 a0001c0001t0027 a0001c0001t0033 a0001c0001t0037 a0001c0001t0046	a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0034 others(49): Show a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0046 a0001c0001t0001g0066 a0001c0001t0001g0075 a0001c0001t0001g0081 a0001c0001t0001g0087 a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0149 a0001c0001t0001g0171 a0001c0001t0001g0175 a0001c0001t0001g0188 a0001c0001t0001g0215 a0001c0001t0001g0225 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0236 a0001c0001t0001g0240 a0001c0001t0001g0255 a0001c0001t0001g0260 a0001c0001t0001g0294 a0001c0001t0001g0297 a0001c0001t0001g0308 a0001c0001t0001g0312 a0001c0001t0001g0319 a0001c0001t0002g0044 a0001c0001t0002g0057 a0001c0001t0002g0078 a0001c0001t0002g0124 a0001c0001t0002g0229 a0001c0001t0002g0273 a0001c0001t0002g0306 a0001c0001t0004g0037 a0001c0001t0004g0206 a0001c0001t0004g0208 a0001c0001t0005g0080 a0001c0001t0005g0268 a0001c0001t0008g0061 a0001c0001t0008g0063 a0001c0001t0012g0086 a0001c0001t0016g0275 a0001c0001t0027g0207 a0001c0001t0033g0101 a0001c0001t0037g0194 a0001c0001t0046g0071	53	320	0.1656	-888	c.380 others(14): Show c.380+55_380+942del	RAB31	ENSG00000168461.13	transcript	ENST00000578921.6	protein_coding	5/6			INFO_REALIGN_3_PRIME	chr18	TogoVar
RASA3_chr13_113972783_114137623	114005904	CGGACGCC others(881): Show CGGACGCCACCTTACCCTTCTCCCCACTCCTGCCCTGCTGGATGCCACCT TACCCTTCTCCCCTCCTGCCCTGCCGGACGCCACCTTACCCTTCTCCCCT CCTGCCCTGCCGGACGCCACCTTACCCTTCTCCCCCCTCCTGCCCTGCCG GACGCCACCTTACCCTTCTCCCCTCCTGCCCTGCCGGACGCCACCTTACC CTTCTCCCCACTCCTGCCCTGCTGGATGCCACCTTACCCTTCTCCCCTCC TGCCCTGCTGGACACCACCTTACCCTTCTCCCCTCCTGCCCTGCCGGACG CCACCTTACCCTTCTCCCCACTCCTGCCCTGCCGGATGCCACCTTACCCT TCTCCCCTCCTGCCCTGCTGGACACCACCTTACCCTTCTCCCCTCCTGCC CTGCCGGACGCCACCTTACCCTTCTCCCCCCTCCTGCCCTGCCGGACGCC ACCTTACCCTTCTCCCCACTCCTGCCCTGCCGGACGCCACCTTACCCTTC TCCCCACTCCTGCCCTGCCGGATGCCACCTTACCCTTCTCCCCTCCTGCC CTGCTGGACACCACCTTACCCTTCTCCCCTCCTGCCCTGCCGGACGCCAC CTTACCCTTCTCCCCCCTCCTGCCCTGCCGGACGCCACCTTACCCTTCTC CCCACTCCTGCCCTGCTGGACGCCACCTTACCCTTCTCCCCACTCCTGCC CTGCCGGATGCCACCTTACCCTTCTCCCCTCCTGCCCTGCTGGACACCAC CTTACCCTTCTCCCCTCCTGCCCTGCCGGACGCCACCTTACCCTTCTCCC CCCTCCTGCCCTGCCGGACGCCACCTTACCCTTCTCCCCACTCCTGCCCT GCTGGATGCCACCTTACCCTTCTCCCCTCCTGCCCTGCT	C C	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	46	0.0217	-888	c.174 others(18): Show c.1742+741_1742+1628del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	18/23				chr13	TogoVar
SLC12A7_chr5_1045384_1117063	1070730	GCCCCCAG others(881): Show GCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAG TGAGCCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCC AGTGAGCCCCCAGCACACGGTATCACACTTATGCAGCCCCCAGTGAGCCC CCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACA CGGGTATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGTATC ACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTAT GCAGCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCA GTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCAGTGAGCCCCC AGCACACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGG GCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGCATCACACT TATGCAGCCCCCAGTGAGCCCCCAGCACACGGTATCACACTTATGCAGCC CCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGTATCACACTTATGCAG CCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCCAGTG AGCCCCCAGCACACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAG CACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGGC ATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGCATCACACTT ATGCAGCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCC CAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGC	G G	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0005 a0001c0010t0005	a0001c0010t0005g0009 a0001c0010t0005g0009	1	109	0.0092	-888	c.224 others(19): Show c.2241+2015_2241+2902del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23				chr5	TogoVar
SNTG2_chr2_945849_1372613	1013170	GGGATTTA others(881): Show GGGATTTATATGGGCAGAGAGAAGGGTGGTCTGTAGAGGGATTTATAAGG GCAGAGAGAAGGGTGGTCTGTAGAGGGATTTATAAGGGCAGAGAGAAGGG TGGTCTGGAGAGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGTAGAGG GATTTATAAGGGCAGAGAGAAGGGTGGTCTGGAGAGGGATTTATATGGGC AGAGAGAAGGGTGGTCTGGAGAGGGATTTATATGGGCAGAGAGAAGGGTG GTCTGGAGAGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGTAGAGGGA TTTATAAGGGCAGAGAGAAGGGTGGTCTGTAGAGGGATTTATAAGGGCAG AGAGAAGGGTGGTCTGGAGAGGGATTTATATGGGCAGAGAGAAGGGTGGT CTGTAGAGGGATTTATAAGGGCAGAGAGAAGGGTGGTCTGTAGAGGGATT TATATGGGCAGAGAGAAGGGTGGTCTGGAGAAGGATTTATATGGGCAGAG AGAAGGGTGGTCTGTAGAGGGATTTATATGGGCAGAGAGAAGGGTGGTCT GGAGAGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGTAGAGGGATTTA TAAGGGCAGAGAGAAGGGTGGTCTGGAGAGGGATTTATATGGGCAGAGAG AAGGGTGGTCTGGAGAGGGATTTATAAGGGCAGAGAGAAGGGTGGTCTGG AGAGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGGAGAAGGATTTATA TGGGCAGAGAGAAGGGTGGTCTGTAGAGGGATTTATATGGGCAGAGAGAA GGGTGGTCTGGAGAGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGTAG AGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGGAGAA	G G	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0017 a0017	a0017c0036 a0017c0036	a0017c0036t0001 a0017c0036t0001	a0017c0036t0001g0070 a0017c0036t0001g0070	1	188	0.0053	-888	c.72+ others(17): Show c.72+62135_72+63022del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16			INFO_REALIGN_3_PRIME	chr2	TogoVar

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