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
DENND1B_chr1_197499748_197780480	197713905	A A	AATATATT others(363): Show AATATATTATATATTATATATATTAAAATATATATATGTAATATATAATT ATATATTACATATTATGATATATAATATATAATTATATATTATATATTAT ATGATATACATATATATTATATGCATATAATATATACATATATTATATGC ATATAATATATACATATATTATATGCATATAATATATACATATATTATAT GCATATAATATATACATATATTATATGCATATAATATATACATATATTAT ATGCATATAATATATACATATATTATATGCATATAATATATACATATATT ATATGCATATAATATATACATATATTATATGCATATAATATATACATATA TTATATGCATATAATATATAC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02896.hp2 HG02897.hp1 HG02723.hp2 HG02896.hp2 HG02897.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0011 a0001c0001 a0008c0011	a0001c0001t0001 a0008c0011t0003 a0001c0001t0001 a0008c0011t0003	a0001c0001t0001g0191 a0001c0001t0001g0192 a0008c0011t0003g0080 a0001c0001t0001g0191 a0001c0001t0001g0192 a0008c0011t0003g0080	3	6	0.5000	370	c.126 others(387): Show c.126+1125_126+1126insGTATATATTATATGCATATAATATATGT ATATATTATATGCATATAATATATGTATATATTATATGCATATAATATAT GTATATATTATATGCATATAATATATGTATATATTATATGCATATAATAT ATGTATATATTATATGCATATAATATATGTATATATTATATGCATATAAT ATATGTATATATTATATGCATATAATATATGTATATATTATATGCATATA ATATATGTATATATTATATGCATATAATATATATGTATATCATATAATAT ATAATATATAATTATATATTATATATCATAATATGTAATATATAATTATA TATTACATATATATATTTTAATATATATAATATATAATATAT	DENND1B	ENSG00000213047.13	transcript	ENST00000620048.6	protein_coding	3/22			chr1	TogoVar
DENND1B_chr1_197499748_197780480	197713905	A A	AATATATT others(363): Show AATATATTATATATTATATATATTAAAATATATATATGTAATATATAATT ATATATTACATATTATGATATATAATATATAATTATATATTATATATTAT ATGATATACATATATATTATATGCATATAATATATACATATATTATATGC ATATAATATATACATATATTATATGCATATAATATATACATATATTATAT GCATATAATATATACATATATTATATGCATATAATATATACATATATTAT ATGCATATAATATATACATATATTATATGCATATAATATATACATATATT ATATGCATATAATATATACATATATTATATGCATATAATATATGTATATA TTATATGCATATAATATATAC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0258 a0001c0007t0001g0258	1	4	0.2500	370	c.126 others(387): Show c.126+1125_126+1126insGTATATATTATATGCATATAATATATAC ATATATTATATGCATATAATATATGTATATATTATATGCATATAATATAT GTATATATTATATGCATATAATATATGTATATATTATATGCATATAATAT ATGTATATATTATATGCATATAATATATGTATATATTATATGCATATAAT ATATGTATATATTATATGCATATAATATATGTATATATTATATGCATATA ATATATGTATATATTATATGCATATAATATATATGTATATCATATAATAT ATAATATATAATTATATATTATATATCATAATATGTAATATATAATTATA TATTACATATATATATTTTAATATATATAATATATAATATAT	DENND1B	ENSG00000213047.13	transcript	ENST00000620048.6	protein_coding	3/22			chr1	TogoVar
DFFB_chr1_3852476_3890429	3868664	A A	ACCACACC others(363): Show ACCACACCAGGCCACGCCACACCAAGCCACACCACACCAGGCCACACCAC ACCAAGCCACACCACACCAGGCCACACCACACCATACCACACCACACCAG GCCACACCACACCATACCACACCACACCAGGCCACACCACACCAAGCCAC ACCACACCAGGCCACACCACACCATACCACACCACACCAGGCCACACCAC ACCATACCACACCACACCAGGCCACACCACACCAAGCCACACCACACCAG GCCACACCACACCATACCACACCACACCAGGCCACACCACACCAGGCCAC ACCACACCACACCACACCACACCACGCCACACCACACCAGGCCACACCAC ACCAGGCCACACCACACCACG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00741.hp2 HG01243.hp2 others(18): Show HG00642.hp2 HG00741.hp2 HG01243.hp2 HG02280.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02717.hp1 HG02818.hp2 HG02922.hp2 HG02970.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03540.hp1 HG03579.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0006 a0001c0001t0018 others(3): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0018 a0001c0002t0002 a0001c0002t0008 a0001c0002t0012	a0001c0001t0004g0004 a0001c0001t0004g0008 a0001c0001t0004g0042 others(10): Show a0001c0001t0004g0004 a0001c0001t0004g0008 a0001c0001t0004g0042 a0001c0001t0004g0257 a0001c0001t0004g0258 a0001c0001t0006g0068 a0001c0001t0018g0162 a0001c0002t0002g0159 a0001c0002t0002g0160 a0001c0002t0002g0168 a0001c0002t0008g0042 a0001c0002t0012g0273 a0001c0002t0012g0299	21	96	0.2188	370	c.510 others(385): Show c.510+619_510+620insGGCCACGCCACACCAAGCCACACCACACCA GGCCACACCACACCAAGCCACACCACACCAGGCCACACCACACCATACCA CACCACACCAGGCCACACCACACCATACCACACCACACCAGGCCACACCA CACCAAGCCACACCACACCAGGCCACACCACACCATACCACACCACACCA GGCCACACCACACCATACCACACCACACCAGGCCACACCACACCAAGCCA CACCACACCAGGCCACACCACACCATACCACACCACACCAGGCCACACCA CACCAGGCCACACCACACCACACCACACCACACCACGCCACACCACACCA GGCCACACCACACCAGGCCACACCACACCACGCCACACCA	DFFB	ENSG00000169598.17	transcript	ENST00000378209.8	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
DMD_chrX_31114222_33216549	33010003	T T	TGTGTACA others(363): Show TGTGTACATGTGTATGTACACATGTGTGTGCACATGTGTATGTACACATG TGTGTGCACATGTGTATGTACACATGTGTGTGCACATGTGTATGTACACA TGTGTGTGCACATGTGTATGTACACATGTGTGTGCACATGTGTATGTACA CATGTGTGTGCACATGTGTATGTACACATGTGTGTGCACATGTGTATGTA CACATGTGTGTGCACATGTGTATGTACACATGTGTGTGCACATGTGTATG TACACATGTGTGTGCACATGTGTATGTACACATGTGTGTGCACATGTGTA TGTACACATGTGTGTGCACATGTGTATGTACACATGTGTGTGCACATGTG TATGTACACATGTGTGTGCAC	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0034 a0034	a0034c0035 a0034c0035	a0034c0035t0001 a0034c0035t0001	a0034c0035t0001g0081 a0034c0035t0001g0081	1	113	0.0088	370	c.93+ others(387): Show c.93+10135_93+10136insGTGCACACACATGTGTACATACACATGT GCACACACATGTGTACATACACATGTGCACACACATGTGTACATACACAT GTGCACACACATGTGTACATACACATGTGCACACACATGTGTACATACAC ATGTGCACACACATGTGTACATACACATGTGCACACACATGTGTACATAC ACATGTGCACACACATGTGTACATACACATGTGCACACACATGTGTACAT ACACATGTGCACACACATGTGTACATACACATGTGCACACACATGTGTAC ATACACATGTGCACACACATGTGTACATACACATGTGCACACACATGTGT ACATACACATGTGCACACACATGTGTACATACACATGTACAC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78			chrX	TogoVar
DNAH12_chr3_57288700_57549344	57390424	A A	AAAAAATA others(363): Show AAAAAATATATATATATATATACACACATACATATACATATATACACATA CATATACATATATACACATACATATACATATATACACATACATATACATA TATACACATACATATATATATACATATATATATACATATATATATACGTA TATATATATACGTGTATATATATATACATATATATATATACGTGTGTATA TATATACACATATATATATACACGTATATATATACACATATATATATATA CACATATATATATATACACATATATATATATACACACATATATATATATA CACATATATATATATACACATATATATATATACACATATATATATATATA CACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0178 a0002c0002t0001g0178	1	82	0.0122	370	c.730 others(389): Show c.7305+1447_7305+1448insATATATATATATATATATGTGTATAT ATATATATATGTGTATATATATATATGTGTATATATATATATGTGTATAT ATATATATGTGTGTATATATATATATGTGTATATATATATATGTGTATAT ATATATATGTGTATATATATACGTGTATATATATATGTGTATATATATAC ACACGTATATATATATATGTATATATATATACACGTATATATATATACGT ATATATATATGTATATATATATGTATATATATATGTATGTGTATATATGT ATATGTATGTGTATATATGTATATGTATGTGTATATATGTATATGTATGT GTATATATGTATATGTATGTGTGTATATATATATATATATTTTT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57390424	A A	AAAATATA others(363): Show AAAATATATATATATATATATATACACATACATATACATATATACACATA CATATACATATATACACATACATATACATATATACACATACATATATATA TACATATATATATACATATATATATACGTATATATATATACGTGTATATA TATATACATATATATATATATACGTGTGTATATATATACACATATATATA TACACGTATATATATACACACATATATATATACACATATATATATATACA CATATATATATATACACACATATATATATACACATATATATATATACACA TATATATATATATACACATATATATATATATACACATATATATATATATA CACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0001 a0001c0026t0001	a0001c0026t0001g0146 a0001c0026t0001g0146	1	82	0.0122	370	c.730 others(389): Show c.7305+1447_7305+1448insATATATATATATATATATGTGTATAT ATATATATATGTGTATATATATATATATGTGTATATATATATATATGTGT ATATATATATATGTGTATATATATATGTGTGTATATATATATATGTGTAT ATATATATATGTGTATATATATATGTGTGTATATATATACGTGTATATAT ATATGTGTATATATATACACACGTATATATATATATATGTATATATATAT ACACGTATATATATATACGTATATATATATGTATATATATATGTATATAT ATATGTATGTGTATATATGTATATGTATGTGTATATATGTATATGTATGT GTATATATGTATATGTATGTGTATATATATATATATATATATTT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DOCK3_chr3_50669927_51389198	50841728	T T	TTATTGTT others(363): Show TTATTGTTACCTTTTCTTTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACT GCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	119	0.0084	370	c.162 others(383): Show c.162+29_162+30insTTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCAC TGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCTATTGTTACCTTTTCT	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	3/52		INFO_REALIGN_3_PRIME	chr3	TogoVar
DOCK3_chr3_50669927_51389198	50841728	T T	TTATTGTT others(363): Show TTATTGTTACCTTTTCTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACT GCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA19066.hp1 NA18612.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0168 a0001c0001t0001g0126 a0001c0001t0001g0168	2	120	0.0167	370	c.162 others(383): Show c.162+29_162+30insTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCAC TGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCTATTGTTACCTTTTCT	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	3/52		INFO_REALIGN_3_PRIME	chr3	TogoVar
DTD1_chr20_18583054_18771644	18675822	A A	ATATGTGT others(363): Show ATATGTGTAAATATACCTATGTGTATATTTACACATATATATGTAAATAT ACCTATGTGTATATTTACACATATATATGTAAATATACCTATGTGTATGT TTACACATATATATGTGTAAATATACCTATGTGTATGTTTACACATATAT ATGTGTAAATATACCTATGTGTATGTTTACACATATATGTAAATATACCT ATGTGTATGTTTACACATATATGTGTAAATATACCTATGTGTATGTTTAC ACATATATGTGTAAATATACCTATGTGTATGTTTACACATATATGTGTAA ATATACCTATGTGTGTGTTTACACATATATATGTGTAAATATACCTATGT GTGTGTTTACACATATATATG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01123.hp2 HG01943.hp2 others(2): Show HG00735.hp2 HG01123.hp2 HG01943.hp2 HG03490.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0232 a0001c0001t0001g0245 others(2): Show a0001c0001t0001g0220 a0001c0001t0001g0232 a0001c0001t0001g0245 a0001c0001t0001g0249 a0001c0001t0001g0255	5	276	0.0181	370	c.477 others(389): Show c.477+47590_477+47591insATGTGTAAATATACCTATGTGTATAT TTACACATATATATGTAAATATACCTATGTGTATATTTACACATATATAT GTAAATATACCTATGTGTATGTTTACACATATATATGTGTAAATATACCT ATGTGTATGTTTACACATATATATGTGTAAATATACCTATGTGTATGTTT ACACATATATGTAAATATACCTATGTGTATGTTTACACATATATGTGTAA ATATACCTATGTGTATGTTTACACATATATGTGTAAATATACCTATGTGT ATGTTTACACATATATGTGTAAATATACCTATGTGTGTGTTTACACATAT ATATGTGTAAATATACCTATGTGTGTGTTTACACATATATATGT	DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
DTD1_chr20_18583054_18771644	18675822	A A	ATGTAAAT others(363): Show ATGTAAATATACCTATGTGTATGTTTACACATATATATGTAAATATACCT ATGTGTATGTTTACACATATATATGTGTAAATATACCTATGTGTATGTTT ACACATATATATGTGTAAATATACCTATGTGTATGTTTACACATATATAT GTGTAAATATACCTATGTGTATGTTTACACATATATATGTGTAAATATAC CTATGTGTATGTTTACACATATATGTAAATATACCTATGTGTATGTTTAC ACATATATGTGTAAATATACCTATGTGTATGTTTACACATATATGTGTAA ATATACCTGTGTGTATGTTTACACATATATATGTGTAAATATACCTATGT GTATGTTTACACATATATATG	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18968.hp1 NA19003.hp2 others(2): Show NA18947.hp1 NA18968.hp1 NA19003.hp2 NA19011.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 others(2): Show a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328	5	276	0.0181	370	c.477 others(389): Show c.477+47610_477+47611insGTTTACACATATATATGTAAATATAC CTATGTGTATGTTTACACATATATATGTGTAAATATACCTATGTGTATGT TTACACATATATATGTGTAAATATACCTATGTGTATGTTTACACATATAT ATGTGTAAATATACCTATGTGTATGTTTACACATATATATGTGTAAATAT ACCTATGTGTATGTTTACACATATATGTAAATATACCTATGTGTATGTTT ACACATATATGTGTAAATATACCTATGTGTATGTTTACACATATATGTGT AAATATACCTGTGTGTATGTTTACACATATATATGTGTAAATATACCTAT GTGTATGTTTACACATATATATGTGTAAATATACCTATGTGTAT	DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
EGFL7_chr9_136657916_136677678	136675429	C C	CAGCAGGG others(363): Show CAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGA GGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGG CCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGT AGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGG ACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGC AGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGA GGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGGCCA GCAGGTAGGCTGGGGACTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0105 a0001c0001t0005g0105	1	177	0.0056	370	c.31 others(381): Show c.3143_*3144insAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGG GACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAG CAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGG AGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCA GCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGG CTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACT GGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGG GAGGGAGGGGGGCCAGCAGGTAGGCTGGGGACTGGG	EGFL7	ENSG00000172889.16	transcript	ENST00000308874.12	protein_coding		2752		chr9	TogoVar
EHMT1_chr9_137614005_137841127	137716082	G G	GTGGTGGG others(363): Show GTGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTGGTG GTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAG TTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGG GGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATG GTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTG GTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAG TTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGAG GAGGAAGTTGTGGTGGTGTCA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0155 a0001c0006t0001g0155	1	145	0.0069	370	c.86- others(383): Show c.86-524_86-523insTTGGTGTCATGGTGGGGGAGGAAGTGGTGGTG TCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTG TGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGA GGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTG GGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTG TCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTG TGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGAGGAG GAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EIPR1_chr2_3183970_3382818	3315905	C C	CCACACCC others(363): Show CCACACCCCCTACCACCACCATCACCACCATCCCTATCCACACCCCCTAC CACCACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACC ACCATCCCTATCCACACCCCCTACCACCACCATCACCACCATCCCCATCC ACACCCCCTACCACCACCATCACCACCATCCCCACACACACCCCCTACCA CCATCCTCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCAC CATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCAC AGCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACC ACCATCACCACCATCCCCATA	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0098	1	129	0.0078	370	c.259 others(389): Show c.259+22111_259+22112insTATGGGGATGGTGGTGATGGTGGTGG TAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGCTGTGGA TGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGT GATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGAGGATGGTGGTA GGGGGTGTGTGTGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATG GGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATAGGGATGGTGGTGA TGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGG GGGTGTGGATAGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EXD3_chr9_137301896_137428162	137329548	T T	TACACGGG others(363): Show TACACGGGACTACACGGGACTACACGGGACTACACGGGGTCACACGGGAC TACACGGGACTACACGGGACTACACGGGGTCACACGGGACTACACGGGGC TACACGGGACTACACGGGGTCACACGGGACTACACGGGACTACACGGGGT CACACGGGACTACACGGGACTACACGGGACTACACGGGGTCACACGGGAC TACACGGGGCTACACGGGACTACACGGGGTCACACGGGACTACACGGGAC TACACGGGGTCACACGGGACTACACGGGACTACACGGGACTACACGGGGT CACACGGGACTACACGGGACTACACGGGGTCACACGGGACTACACGGGGC TACACGGGACTACACGGGGTC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0001 a0006c0005t0001	a0006c0005t0001g0047 a0006c0005t0001g0047	1	77	0.0130	370	c.199 others(389): Show c.1999-5406_1999-5405insGACCCCGTGTAGTCCCGTGTAGCCCC GTGTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCC GTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCCGTGTAGTCCC GTGTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTAGCCCCGTGTAGTCCC GTGTGACCCCGTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCC GTGTAGTCCCGTGTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTAGCCCC GTGTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTAGTCCCGTGTAGTCCC GTGTGACCCCGTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGT	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137329576	G G	GTCACACG others(363): Show GTCACACGGGACTACACGGGGCTACACGGGACTACACGGGGTCACACGGG ACTACACGGGACTACACGGGGTCACACGGGACTACACGGGACTACACGGG ACTACACGGGGTCACACGGGACTACACGGGACTACACGGGGTCACACGGG ACTACACGGGACTACACGGGACTACACGGGGTCACACGGGACTACACGGG ACTACACGGGACTACACGGGACTACACGGGGTCACACGGGACTACACGGG ACTACACGGGACTACACGGGGTCACACGGGACTACACGGGGCTACACGGG ACTACACGGGGTCACACGGGACTACACGGGACTACACGGGACTACACGGG GCTACACGGGGTCACACGGGA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0001 a0006c0005t0001	a0006c0005t0001g0047 a0006c0005t0001g0047	1	55	0.0182	370	c.199 others(389): Show c.1999-5434_1999-5433insTCCCGTGTGACCCCGTGTAGCCCCGT GTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCCGTGTAGTCCCGT GTAGCCCCGTGTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTAGTCCCGT GTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGT GTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGT GTGACCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCCGTGTAGTCCCGT GTAGTCCCGTGTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTAGTCCCGT GTGACCCCGTGTAGTCCCGTGTAGCCCCGTGTAGTCCCGTGTGA	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
F13A1_chr6_6139084_6325662	6261580	G G	GCCCTCCA others(363): Show GCCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGA TTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTC CAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGAC CCTCCAGGTGATTCTGATGTGCTCCAAGCGTGCTGACCCTCCAGGTGATT CTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCA AGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCC TCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCT GATGTGCTCCAAGCGTGGTGA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0006 a0006	a0006c0026 a0006c0026	a0006c0026t0002 a0006c0026t0002	a0006c0026t0002g0285 a0006c0026t0002g0285	1	188	0.0053	370	c.571 others(387): Show c.571+4977_571+4978insTCACCACGCTTGGAGCACATCAGAATCA CCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCAC CACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCA CATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACC TGGAGGGTCAGCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCA CGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACA TCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTG GAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGG	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	4/14			chr6	TogoVar
F13A1_chr6_6139084_6325662	6262021	G G	GTGACCCT others(363): Show GTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGCTGACCCTCCAGG TGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTG CTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGT GACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTG ATTCTGATGTGCTCCAAGCGTGCTGACCCTCCAGGTGATTCTGATGTGCT CCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGA CCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGAT TCTGATGTGCTCCAAGCGTGC	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18966.hp1 NA19065.hp1 NA18941.hp2 NA18966.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0102 a0001c0001t0002g0095 a0001c0001t0002g0101 a0001c0001t0001g0102 a0001c0001t0002g0095 a0001c0001t0002g0101	3	244	0.0123	370	c.571 others(387): Show c.571+4536_571+4537insGCACGCTTGGAGCACATCAGAATCACCT GGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCAC GCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACAT CAGAATCACCTGGAGGGTCAGCACGCTTGGAGCACATCAGAATCACCTGG AGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGC TTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCA GAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAG GGTCAGCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCA	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	4/14			chr6	TogoVar
FOXQ1_chr6_1307098_1319758	1317226	C C	CCTCCCCC others(363): Show CCTCCCCCACCCATCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCC CACCCATCCCTCCTCCCGCCCCCCCTCCAGCCTACCCCTCCCCCCGCCCA CCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCACCCACCTCTCC TCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCGCCCACCCCCCTCCCGCC CCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCCTCCTCCCGCCTCCCCC CCAGCCTACCCCCTCCCCCCGCCCACCCACTCCTCCCGCCCCCTCCAGCC TACCCCTCCCCCCGCCCACTTCTCCCGCCCCCCCAGCCTACCCCTCCCCC CGCCCACCCCTCCTCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0000 a0002c0005t0001g0000	1	114	0.0088	370	c.33 others(381): Show c.3310_*3311insCTCCCCCACCCATCCCTCCTCCCGCCCCCCTCCA GCCTACCCCTCCCCCCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCTAC CCCTCCCCCCGCCCACCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCC CCCACCCACCTCTCCTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCGCC CACCCCCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCCT CCTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCCGCCCACCCACTCCTC CCGCCCCCTCCAGCCTACCCCTCCCCCCGCCCACTTCTCCCGCCCCCCCA GCCTACCCCTCCCCCCGCCCACCCCTCCTCCCGCCT	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		2469		chr6	TogoVar
FOXQ1_chr6_1307098_1319758	1317226	C C	CCTCCCCC others(363): Show CCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCC CCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCTACCCCTCCCCCCGCCC ACCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCACCCACCTCTC CTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCGCCCACCCCCCTCCCGC CCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCCTCCTCCCGCCTCCCC CCCAGCCTACCCCCTCCCCCCGCCCACCCACTCCTCCCGCCCCCTCCAGC CTACCCCTCCCCCCGCCCACTTCTCCCGCCCCCCAGCCTACCCCTCCCCC CGCCCACCCCTCCTCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0000 a0002c0004t0001g0000	1	114	0.0088	370	c.33 others(381): Show c.3310_*3311insCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCC AGCCTACCCCTCCCCCCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCTA CCCCTCCCCCCGCCCACCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCC CCCCACCCACCTCTCCTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCGC CCACCCCCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCC TCCTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCCGCCCACCCACTCCT CCCGCCCCCTCCAGCCTACCCCTCCCCCCGCCCACTTCTCCCGCCCCCCA GCCTACCCCTCCCCCCGCCCACCCCTCCTCCCGCCT	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		2469		chr6	TogoVar
FOXQ1_chr6_1307098_1319758	1317226	C C	CCTCCCCC others(363): Show CCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCC CCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCTACCCCTCCCCCCGCCC ACCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCACCCACCTCTC CTCCCGCCTCCCCCCCCAGCCTACCCCCTCCCCGCCCACCCCCCTCCCGC CCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCCTCCTCCCGCCTCCCCC CCAGCCTACCCCCTCCCCCCGCCCACCCACTCCTCCCGCCCCCTCCAGCC TACCCCTCCCCCCGCCCACTTCTCCCGCCCCCCCAGCCTACCCCTCCCCC CGCCCACCCCTCCTCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	114	0.0088	370	c.33 others(381): Show c.3310_*3311insCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCC AGCCTACCCCTCCCCCCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCTA CCCCTCCCCCCGCCCACCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCC CCCCACCCACCTCTCCTCCCGCCTCCCCCCCCAGCCTACCCCCTCCCCGC CCACCCCCCTCCCGCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCCT CCTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCCGCCCACCCACTCCTC CCGCCCCCTCCAGCCTACCCCTCCCCCCGCCCACTTCTCCCGCCCCCCCA GCCTACCCCTCCCCCCGCCCACCCCTCCTCCCGCCT	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		2469		chr6	TogoVar
FOXQ1_chr6_1307098_1319758	1317227	C C	CTCCCCCC others(363): Show CTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCC CACCCATCCCTCCTCCCGCCCCCCCTCCAGCCTACCCCTCCCCCCGCCCA CCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCACCCACCTCTCC TCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCGCCCACCCCCCTCCCGCC CCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCCTCCTCCCGCCTCCCCC CCAGCCTACCCCCTCCCCCCGCCCACCCACTCCTCCCGCCCCCTCCAGCC TACCCCTCCCCCCGCCCACTTCTCCCGCCCCCCCAGCCTACCCCTCCCCC CGCCCACCCCTCCTCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0000 a0002c0004t0001g0000	1	398	0.0025	370	c.33 others(381): Show c.3311_*3312insTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCCA GCCTACCCCTCCCCCCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCTAC CCCTCCCCCCGCCCACCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCC CCCACCCACCTCTCCTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCGCC CACCCCCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCCT CCTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCCGCCCACCCACTCCTC CCGCCCCCTCCAGCCTACCCCTCCCCCCGCCCACTTCTCCCGCCCCCCCA GCCTACCCCTCCCCCCGCCCACCCCTCCTCCCGCCT	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		2470		chr6	TogoVar
GABBR2_chr9_98283109_98713935	98662039	T T	TGCTTCCC others(363): Show TGCTTCCCACACTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0130 a0001c0002t0001g0130	1	162	0.0062	370	c.321 others(389): Show c.321+46377_321+46378insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGTGTGGGAAGC	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	1/18			chr9	TogoVar
GABPB1_chr15_50270389_50360198	50340995	C C	CATATGGT others(363): Show CATATGGTTTATTACCATATGTAATATTACATATGGTTTATTACCATATG TAATATTACATATGGTTTATTACCATATGTAATATTACATATGGTTTATT ACCATATGTAATATTACATATGGTTTATTACCATATGTAATATTACATAT GGTTTATTACCATATGTAATATTACATATGGTTTATTACCATATGTAATA TTACATATGGTTTATTACCATATGTAATATTACATATGGTTTATTACCAT ATGTAATATTACATATGGTTTATTACCATATGTAATATTACATATGGTTT ATTACCATATGTAATATTACATATGGTTTATTACCATATGTAATATTACA TATGGTTTATTACCATATGTA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0122 a0001c0001t0007g0122	1	363	0.0028	370	c.-1+ others(387): Show c.-1+13989_-1+13990insTACATATGGTAATAAACCATATGTAATA TTACATATGGTAATAAACCATATGTAATATTACATATGGTAATAAACCAT ATGTAATATTACATATGGTAATAAACCATATGTAATATTACATATGGTAA TAAACCATATGTAATATTACATATGGTAATAAACCATATGTAATATTACA TATGGTAATAAACCATATGTAATATTACATATGGTAATAAACCATATGTA ATATTACATATGGTAATAAACCATATGTAATATTACATATGGTAATAAAC CATATGTAATATTACATATGGTAATAAACCATATGTAATATTACATATGG TAATAAACCATATGTAATATTACATATGGTAATAAACCATAT	GABPB1	ENSG00000104064.18	transcript	ENST00000380877.8	protein_coding	1/8			chr15	TogoVar
GAK_chr4_844277_937316	926962	C C	CGCTCACC others(363): Show CGCTCACCTGCAGTCCGCACTGCCCCGCACCCCTCCCCGCTCACCTGCAG TCCGCACTGCCCCGCACCCCTCCCCGCTCACCTGCAGTCCGCACTGCCCC GCACCCCTCCCCGCTCACCTGCAGTCCGCACTGCCCCGCACCCCTCCCCG CTCACCTGCGCTCCGCACTGCCCCGCACCCCTCCCCGCTCACCTGCAGTC CGCACTGCCCCGCACCCCTCCCCGCTCACCTGCAGTCCGCACTGCCCCGC ACCCCTCCCCGCTCACCTGCGCTCCGCACTGCCCCGCACCCCTCCCAGCT CACCTGCGCTCCGCACTGCCCCACACCCCTCCCCGCTCACCTGCGCTCCG CACTGCCCCGCACCCCTCCCG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0066 a0001c0004t0001g0066	1	366	0.0027	370	c.145 others(387): Show c.145+5080_145+5081insCGGGAGGGGTGCGGGGCAGTGCGGAGCG CAGGTGAGCGGGGAGGGGTGTGGGGCAGTGCGGAGCGCAGGTGAGCTGGG AGGGGTGCGGGGCAGTGCGGAGCGCAGGTGAGCGGGGAGGGGTGCGGGGC AGTGCGGACTGCAGGTGAGCGGGGAGGGGTGCGGGGCAGTGCGGACTGCA GGTGAGCGGGGAGGGGTGCGGGGCAGTGCGGAGCGCAGGTGAGCGGGGAG GGGTGCGGGGCAGTGCGGACTGCAGGTGAGCGGGGAGGGGTGCGGGGCAG TGCGGACTGCAGGTGAGCGGGGAGGGGTGCGGGGCAGTGCGGACTGCAGG TGAGCGGGGAGGGGTGCGGGGCAGTGCGGACTGCAGGTGAGC	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27			chr4	TogoVar
GAK_chr4_844277_937316	927295	C C	CGCTCACC others(363): Show CGCTCACCTGCGCTCCGCACTGCCCCGCACCCCTCCCAGCTCACCTGCGC TCCGCACTGCCCCGCACCCCTCCCGGCTCACCTGCGGTCCACACTGCCCC GCACCCCTCCCGGCTCACCTGCGGTCCGCACTGCCCCGCACCCCTCCCGG CTCACCTGCGGTCCGCACTGCCCCGCACCCCTCCCGGCTCACCTGCGGTC CGCACTGCCCCGCACCCCTCCCGGCTCACCTGCGGTCCGCACTGCCCCGC ACCCCTCCCGGCTCACCTGCAGTCCCCACTGCCTCGCACCCCTCCCCGCT CACCTGCAGTCCCCACTGCCCCGCACCCCTCCCCGCTCACCTGCAGTCCG CACTGCCCCACACCCCTCCCG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02015.hp1 HG00673.hp1 HG02015.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0051 a0001c0002t0001g0052	2	230	0.0087	370	c.145 others(387): Show c.145+4747_145+4748insCGGGAGGGGTGTGGGGCAGTGCGGACTG CAGGTGAGCGGGGAGGGGTGCGGGGCAGTGGGGACTGCAGGTGAGCGGGG AGGGGTGCGAGGCAGTGGGGACTGCAGGTGAGCCGGGAGGGGTGCGGGGC AGTGCGGACCGCAGGTGAGCCGGGAGGGGTGCGGGGCAGTGCGGACCGCA GGTGAGCCGGGAGGGGTGCGGGGCAGTGCGGACCGCAGGTGAGCCGGGAG GGGTGCGGGGCAGTGCGGACCGCAGGTGAGCCGGGAGGGGTGCGGGGCAG TGTGGACCGCAGGTGAGCCGGGAGGGGTGCGGGGCAGTGCGGAGCGCAGG TGAGCTGGGAGGGGTGCGGGGCAGTGCGGAGCGCAGGTGAGC	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27			chr4	TogoVar
GALNT9_chr12_132191372_132334589	132244423	T T	TGGGGCTG others(363): Show TGGGGCTGGACGGGGGGGCGTGGTGATGGGGCTGGACGGGGGCGTGGTGA TGGGGCTGGACGGGGGCGTGGTGATGGGGCTGGACGGGGGCGTGGTGATG GGGCTGGACGGGGGCGTGGTGATGGGGCTGGATGGGGGCGTGGTGATGGG GCTGGATGGGGGCGTGGTGACGGGGGCTGGACGGGGGGGCGTGGTGATGG GGCTGGACGGGGGCGTGGTGATGGGGCTGGACGGGGGCGTGGTGATGGGG CTGGATGGGGGCGTGGTGATGGGGCTGGACGGGGGGGCGTGGTGATGGGG CTGGATGGGGGGGCGTGGTGATGGGGCTGGACGGGGGCGTGGTGATGGGG CTGGACGGGGGCGTGGTGATG	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0041 a0001c0003t0001g0041	1	146	0.0068	370	c.107 others(389): Show c.1077+3486_1077+3487insCATCACCACGCCCCCGTCCAGCCCCA TCACCACGCCCCCGTCCAGCCCCATCACCACGCCCCCCCATCCAGCCCCA TCACCACGCCCCCCCGTCCAGCCCCATCACCACGCCCCCATCCAGCCCCA TCACCACGCCCCCGTCCAGCCCCATCACCACGCCCCCGTCCAGCCCCATC ACCACGCCCCCCCGTCCAGCCCCCGTCACCACGCCCCCATCCAGCCCCAT CACCACGCCCCCATCCAGCCCCATCACCACGCCCCCGTCCAGCCCCATCA CCACGCCCCCGTCCAGCCCCATCACCACGCCCCCGTCCAGCCCCATCACC ACGCCCCCGTCCAGCCCCATCACCACGCCCCCCCGTCCAGCCCC	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132244423	T T	TGGGGCTG others(363): Show TGGGGCTGGACGGGGGGGCGTGGTGATGGGGCTGGACGGGGGCGTGGTGA TGGGGCTGGACGGGGGCGTGGTGATGGGGCTGGACGGGGGCGTGGTGATG GGGCTGGACGGGGGCGTGGTGATGGGGCTGGATGGGGGCGTGGTGATGGG GCTGGATGGGGGCGTGGTGATGGGGGCTGGACGGGGGGGCGTGGTGATGG GGCTGGACGGGGGCGTGGTGATGGGGCTGGACGGGGGCGTGGTGATGGGG CTGGATGGGGGCGTGGTGATGGGGCTGGACGGGGGGGCGTGGTGATGGGG CTGGATGGGGGGGCGTGGTGATGGGGCTGGACGGGGGCGTGGTGATGGGG CTGGACGGGGGCGTGGTGATG	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02080.hp2 HG02135.hp2 others(19): Show HG01978.hp1 HG02080.hp2 HG02135.hp2 HG03492.hp1 HG03942.hp1 NA18747.hp2 NA18945.hp1 NA18952.hp1 NA18961.hp2 NA18966.hp2 NA18971.hp1 NA19004.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19012.hp2 NA19056.hp1 NA19056.hp2 NA19067.hp2 NA19070.hp2 NA19085.hp2 NA19091.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0003 a0001c0004 a0001c0005 others(5): Show a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0009 a0003c0037 a0006c0024	a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 others(5): Show a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0007t0001 a0001c0008t0002 a0001c0009t0002 a0003c0037t0001 a0006c0024t0001	a0001c0003t0001g0012 a0001c0003t0001g0014 a0001c0003t0001g0162 others(19): Show a0001c0003t0001g0012 a0001c0003t0001g0014 a0001c0003t0001g0162 a0001c0004t0001g0056 a0001c0004t0001g0060 a0001c0004t0001g0076 a0001c0004t0001g0109 a0001c0004t0001g0154 a0001c0004t0001g0157 a0001c0005t0001g0018 a0001c0005t0001g0037 a0001c0007t0001g0015 a0001c0007t0001g0159 a0001c0008t0002g0170 a0001c0008t0002g0182 a0001c0009t0002g0168 a0001c0009t0002g0169 a0001c0009t0002g0172 a0001c0009t0002g0175 a0001c0009t0002g0177 a0003c0037t0001g0010 a0006c0024t0001g0160	22	167	0.1317	370	c.107 others(389): Show c.1077+3117_1077+3486dupCATCACCACGCCCCCGTCCAGCCCCA TCACCACGCCCCCGTCCAGCCCCATCACCACGCCCCCCCATCCAGCCCCA TCACCACGCCCCCCCGTCCAGCCCCATCACCACGCCCCCATCCAGCCCCA TCACCACGCCCCCGTCCAGCCCCATCACCACGCCCCCGTCCAGCCCCATC ACCACGCCCCCCCGTCCAGCCCCCATCACCACGCCCCCATCCAGCCCCAT CACCACGCCCCCATCCAGCCCCATCACCACGCCCCCGTCCAGCCCCATCA CCACGCCCCCGTCCAGCCCCATCACCACGCCCCCGTCCAGCCCCATCACC ACGCCCCCGTCCAGCCCCATCACCACGCCCCCCCGTCCAGCCCC	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALR1_chr18_77244848_77282900	77259015	G G	GTGTTGGT others(363): Show GTGTTGGTGGTGGTCATGGTGGTCATGGTGGTGATGATGGTGGTCATGGT GGCGATTGTGGTGATGGTGGTGGATGGTGGTGGTGGTCACTGGTGGTGAT GTTGGTGTTGGTGGTGGTCATGGTGGTCATGGTGGTGATGATGGTCATGG TGGTGATGACGGTGATGATGATGGTGGTCATGGTGGCGATTGTGGTGATG GTGGTGGATGGTGGTGGTGGTCACAGTGGTGGTGATGTTGGTGTTGGTGG TGGTCATGGTGGTCATGGTGGTGATGATGGTCATGGTGGTGATGACGGTG ATGATGATGGTGGTCATGGTGGCGATTGTGGTGATGGTGGTGGATGGTGG TGGTGGTCACAGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0069	a0001c0001t0069g0276 a0001c0001t0069g0276	1	343	0.0029	370	c.732 others(387): Show c.732+2800_732+2801insGTGGTCATGGTGGTCATGGTGGTGATGA TGGTGGTCATGGTGGCGATTGTGGTGATGGTGGTGGATGGTGGTGGTGGT CACTGGTGGTGATGTTGGTGTTGGTGGTGGTCATGGTGGTCATGGTGGTG ATGATGGTCATGGTGGTGATGACGGTGATGATGATGGTGGTCATGGTGGC GATTGTGGTGATGGTGGTGGATGGTGGTGGTGGTCACAGTGGTGGTGATG TTGGTGTTGGTGGTGGTCATGGTGGTCATGGTGGTGATGATGGTCATGGT GGTGATGACGGTGATGATGATGGTGGTCATGGTGGCGATTGTGGTGATGG TGGTGGATGGTGGTGGTGGTCACAGTGGTGGTGATGTTGGTG	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GEMIN7_chr19_45074260_45096518	45092813	T T	TTCCCTGG others(363): Show TTCCCTGGGCTCTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTTT TTTTTTTTGTTTTTTTTTTTTTGTTTTGTTTTGTTTTTTTTGAGACGGAG TCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGC AGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCTACCAAGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	412	0.0024	370	c.23 others(381): Show c.2303_*2304insTCCCTGGGCTCTTTTTTTTTTTTTTTTTTTTTTT TAATTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTGTTTTGTTTTGTT TTTTTTGAGACGGAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCA ATCTCGGCTCACTGCAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCAAGCCCGG CTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGG ATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAG TGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	GEMIN7	ENSG00000142252.11	transcript	ENST00000270257.9	protein_coding		1296		chr19	TogoVar
GEMIN7_chr19_45074260_45096518	45092813	T T	TTCCCTGG others(363): Show TTCCCTGGGCTCTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTT TTTTTTTTTGTTTTTTTTTTTTGTTTTGTTTTGTTTTTTTTGAGACGGAG TCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGC AGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCTACCAAGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02630.hp1 HG03209.hp1 HG01884.hp1 HG02630.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0053 a0001c0001t0001g0048 a0001c0001t0001g0053	3	414	0.0072	370	c.23 others(381): Show c.2303_*2304insTCCCTGGGCTCTTTTTTTTTTTTTTTTTTTTTTT TTAATTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTGTTTTGTTTTGTT TTTTTTGAGACGGAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCA ATCTCGGCTCACTGCAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCAAGCCCGG CTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGG ATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAG TGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	GEMIN7	ENSG00000142252.11	transcript	ENST00000270257.9	protein_coding		1296		chr19	TogoVar
GPR173_chrX_53043789_53085615	53074265	C C	CACATATA others(363): Show CACATATAAATATATATAAATATACATGTATATTTATTCACATATAAATA TATATAAATATACATGTATATTTATTCACATATAAATATATATAAATATA CATGTATATTTATTCACATATAAATATATATAAATATACATGTATATTTA TTCACATATAAATATATATAAATATACATGTATATTTATTCACATATAAA TATATATAAATATACATGTATATTTATTCATATATAAATATATATAAATA TACATGTATATTTATTCATATATAAATATATATAAATATACATGTATATT TATTCATATATAAATATATATAAATATACATTTACATATAAATATATATA AATATACATTTACATATAAAT	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0010 a0001c0002t0007g0010	1	131	0.0076	370	c.-97 others(387): Show c.-97-2259_-97-2258insCATATAAATATATATAAATATACATGTA TATTTATTCACATATAAATATATATAAATATACATGTATATTTATTCACA TATAAATATATATAAATATACATGTATATTTATTCACATATAAATATATA TAAATATACATGTATATTTATTCACATATAAATATATATAAATATACATG TATATTTATTCACATATAAATATATATAAATATACATGTATATTTATTCA TATATAAATATATATAAATATACATGTATATTTATTCATATATAAATATA TATAAATATACATGTATATTTATTCATATATAAATATATATAAATATACA TTTACATATAAATATATATAAATATACATTTACATATAAATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GUCY1A2_chr11_106669019_107023476	106709971	A A	ACATGTAT others(363): Show ACATGTATATAACATAGTTATATATTATATACATGTATATAACATAGTTA TATATTATATACATGTATATAACATATAGTTATATATTATATACATGTAT ATAACATATAGTTATATATTATATACATGTATATAACATATAGTTATATA TTATATACATGTATATAACATATAGTTATATATTATATACATGTATATAA CATATAGTTATATATTATATACATGTATATAACATATAGTTATATATTAT ATACATGTATATAACATATAGTTATATATTATATACATGTATATAACATA GTTATATATTATATACATGTATATAACATATAGTTATATATTATATACAT GTATATAACATATAGTTATAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0118 a0001c0001t0009g0118	1	110	0.0091	370	c.183 others(389): Show c.1837-1306_1837-1305insATATAACTATATGTTATATACATGTA TATAATATATAACTATATGTTATATACATGTATATAATATATAACTATGT TATATACATGTATATAATATATAACTATATGTTATATACATGTATATAAT ATATAACTATATGTTATATACATGTATATAATATATAACTATATGTTATA TACATGTATATAATATATAACTATATGTTATATACATGTATATAATATAT AACTATATGTTATATACATGTATATAATATATAACTATATGTTATATACA TGTATATAATATATAACTATATGTTATATACATGTATATAATATATAACT ATGTTATATACATGTATATAATATATAACTATGTTATATACATG	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	6/7			chr11	TogoVar
HAUS2_chr15_42543838_42574994	42557406	A A	ATATTATA others(363): Show ATATTATATATTTTATATATAATATATATTTTATATATATTATATATTTT ATATATATTATATATTTTATATATAATATATATTTTATATATATTATATA TTTTATATATAATATATATTTTATATATATTATATATTTTATATAATATA TATATTATATATAATATATATTATATATAATATATATATATTATATAAAA TATATAATATATATCTTATATATATCATATATTTTATATATATCATATAT TTTATATATATCATATATTTTATATATAATATATATTATATATACATTAT ATAATATATATTATATTATATATATTATATATTATATAATATATATTATA TATTATACGTAATATATAATG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0148 a0001c0001t0026g0148	1	345	0.0029	370	c.94- others(383): Show c.94-790_94-789insTTATATATTTTATATATAATATATATTTTATA TATATTATATATTTTATATATATTATATATTTTATATATAATATATATTT TATATATATTATATATTTTATATATAATATATATTTTATATATATTATAT ATTTTATATAATATATATATTATATATAATATATATTATATATAATATAT ATATATTATATAAAATATATAATATATATCTTATATATATCATATATTTT ATATATATCATATATTTTATATATATCATATATTTTATATATAATATATA TTATATATACATTATATAATATATATTATATTATATATATTATATATTAT ATAATATATATTATATATTATACGTAATATATAATGTA	HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
HECTD4_chr12_112155195_112387431	112339310	C C	CAAGAAAA others(363): Show CAAGAAAATGCAAGTCACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA GAAAAAAAAGAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0040 a0001c0001t0003g0040	1	181	0.0055	370	c.178 others(389): Show c.178-19569_178-19568insTTTTTTTTTTTCTTTTTTTTCTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCGTGACTTGCATTTTCTT	HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding	1/75			chr12	TogoVar
HRH3_chr20_62209960_62225278	62213674	T T	TGGGGGAA others(363): Show TGGGGGAAGGAGAGCGGGGATGGGGGAGGGAGAGCAGGGATGGGGGGAAG GAGAGTGGGGATGGGTGGGGGAAGGAGAGCAGGGATGGGGGGAAGGGAGA GCAGGGATCGGGGGGAAGGAGAGTGGGGATGGGGGGTAAGGAGAGCGGGG ATGGGGGAAGGGAGAGCAGGGATGGGGGGTAAGGAGAGCGGGGATGGGGG GTAAGGAGAGCGGGGATGGGGGAGGGAGAGCGGGGATGGGGGAGGGAGAG CGGGGATGGGGGAAGGGAGAGCAAGGATGGGGGGGAAGGAGAGTGGGGAT GGGTGGGGGAAGGAGAGTGGGGATGGGTGGGGGAAGGAGAGCGGGGATGG GGGAAGGGAGAGCAGGGATGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0003 a0001c0003t0001g0003	1	331	0.0030	370	c.23 others(381): Show c.2331_*2332insCCATCCCTGCTCTCCCTTCCCCCATCCCCGCTCT CCTTCCCCCACCCATCCCCACTCTCCTTCCCCCACCCATCCCCACTCTCC TTCCCCCCCATCCTTGCTCTCCCTTCCCCCATCCCCGCTCTCCCTCCCCC ATCCCCGCTCTCCCTCCCCCATCCCCGCTCTCCTTACCCCCCATCCCCGC TCTCCTTACCCCCCATCCCTGCTCTCCCTTCCCCCATCCCCGCTCTCCTT ACCCCCCATCCCCACTCTCCTTCCCCCCGATCCCTGCTCTCCCTTCCCCC CATCCCTGCTCTCCTTCCCCCACCCATCCCCACTCTCCTTCCCCCCATCC CTGCTCTCCCTCCCCCATCCCCGCTCTCCTTCCCCC	HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding		1285		chr20	TogoVar
HSD17B14_chr19_48808018_48841491	48834400	C C	CAGGGAGG others(363): Show CAGGGAGGAGGGGTTGGGGACTTGGACTCCTGGGTCTGAGGGAGGAGGGG CTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGA CTCCTGGGTCTGAGGGAGGAGGGGTTGGGGACTTGGACTCCTGGGTCTGA GGGAGGAGGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGTT GGGGACTTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACT CCTGGGTCTGAGGGAGGAGGGGTTGGGGACTTGGACTCCTGGGTCTGAGG GAGGAGGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGG GGGCCTGGACTCCTGGGTCTG	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	377	0.0027	370	c.128 others(383): Show c.128-43_128-42insCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCC TCCCTCAGACCCAGGAGTCCAGGCTCCCAGCCCCTCCTCCCTCAGACCCA GGAGTCCAAGTCCCCAACCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCC CCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAAGTCCCCAACCCCTCCTC CCTCAGACCCAGGAGTCCAGGCTCCCAGCCCCTCCTCCCTCAGACCCAGG AGTCCAAGTCCCCAACCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCC AGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCC TCAGACCCAGGAGTCCAAGTCCCCAACCCCTCCTCCCT	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8			chr19	TogoVar
IFNAR1_chr21_33319970_33364864	33323163	G G	GAATATAT others(363): Show GAATATATATATATGGAATATATATATATGGAATATATATATATGGAATG TATATATGGAATGTATATATGGAATGTATATATGTGGAATGTATATATGT GGAATGTATATATGTGGAATGTATATATGTGGAATGTATATATGTGGAAT GTATATATGTGGAATGTATATATGTGGAATGTATATATGTGGAATGTATA TATGTGGAATGTATATATGGAATGTATATATGTGGAATATATATATGTGG AATATATATATGGAATATATATATGGAATATATATATGGAATATATATAT ATGGAATATATATATGGAATATATATATGGAATATATATATGGAATATAT ATATGGAATATATATATGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0098 a0001c0001t0009g0098	1	284	0.0035	370	c.-18 others(381): Show c.-1893_-1892insAATATATATATATGGAATATATATATATGGAATA TATATATATGGAATGTATATATGGAATGTATATATGGAATGTATATATGT GGAATGTATATATGTGGAATGTATATATGTGGAATGTATATATGTGGAAT GTATATATGTGGAATGTATATATGTGGAATGTATATATGTGGAATGTATA TATGTGGAATGTATATATGTGGAATGTATATATGGAATGTATATATGTGG AATATATATATGTGGAATATATATATGGAATATATATATGGAATATATAT ATGGAATATATATATATGGAATATATATATGGAATATATATATGGAATAT ATATATGGAATATATATATGGAATATATATATGGAA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1806		chr21	TogoVar
INO80_chr15_40973880_41121280	41031612	A A	AGGGAGGA others(363): Show AGGGAGGAAGGGAGGGAGGGAGGAAGGGAGGAAGGGAGGGAGGAAGGGAG GAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAGGGAGGAA GGGAGGAAGGGAGGAGGGAGGAAGGGAGGAAGGGAGGAGGGAGGAAGGGA GGGAGGAAGGGAGAAAGGGAGGGAGGGAGGGAGGAAGGGAGGAAGGGAGG AAGGGAGGAAGGGAGGAAGGGAGGAAGGAAGGGAGGAAGGGAGGAAGGGA GGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGG GAGGGAGGAAGGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGA GGAAGGGAGGAAGGGAGGAAG	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0250 a0001c0001t0002g0250	1	173	0.0058	370	c.290 others(389): Show c.2908-3877_2908-3876insCTTCCTCCCTTCCTCCCTTCCTCCCT TCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCC CTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCT TCCTCCCTTCCTCCCTTCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCC CTTCCTCCCTTCCTCCCTCCCTCCCTCCCTTTCTCCCTTCCTCCCTCCCT TCCTCCCTCCTCCCTTCCTCCCTTCCTCCCTCCTCCCTTCCTCCCTTCCT CCCTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCC TTCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTTCCTCCC	INO80	ENSG00000128908.19	transcript	ENST00000648947.1	protein_coding	24/35			chr15	TogoVar
IQSEC3_chr12_61767_183455	103676	A A	AGGGCTCA others(363): Show AGGGCTCAGGGGTAGGTGGGGGCTCAGGAGGGGAGGTGGGACTCAGGAGG GAGAGGTGGAGTTCGGGGGGAGGCAGGGCTCAGGGGTAGGTGGGGGCTCA GGAGGGGAGGTGGGACTCAGGAGGGAGAGGTGGAGTTCGGGGGGAGGCAG GGCTGGGGGGAGGTGGGGGCTCAGGAGGGGAGGCGGGGCTCAGGAGGGAG AGGTGGAGTTCAGGGGGGAGGCGGGGCTCAGGAGGGAGAGGTGGAGTTCG GGGGGAGGCAGGGCTGGGGGGAGGTGGGGCTCAGGAGGGGAGGTGGGGCT CAGGAGGGAGAGGTGGAGTTCAGGGGGGAGGCGGGGCTCAGGAGGGAGAG GTGGAGTTCGGTGGGGAGGCG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0009 a0003c0005t0009	a0003c0005t0009g0281 a0003c0005t0009g0281	1	269	0.0037	370	c.623 others(387): Show c.623+4541_623+4542insCAGGGGTAGGTGGGGGCTCAGGAGGGGA GGTGGGACTCAGGAGGGAGAGGTGGAGTTCGGGGGGAGGCAGGGCTGGGG GGAGGTGGGGGCTCAGGAGGGGAGGCGGGGCTCAGGAGGGAGAGGTGGAG TTCAGGGGGGAGGCGGGGCTCAGGAGGGAGAGGTGGAGTTCGGGGGGAGG CAGGGCTGGGGGGAGGTGGGGCTCAGGAGGGGAGGTGGGGCTCAGGAGGG AGAGGTGGAGTTCAGGGGGGAGGCGGGGCTCAGGAGGGAGAGGTGGAGTT CGGTGGGGAGGCGGGGCTCAGGGGTAGGTGGGGGCTCAGGAGGGGAGGTG GGACTCAGGAGGGAGAGGTGGAGTTCGGGGGGAGGCAGGGCT	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
KCNH1_chr1_210673314_211139148	210718386	T T	TTAATGCA others(363): Show TTAATGCATAAATATATGCATATATTTAATACATAAATATATGCATATAT TTAATATATGCATATATTTAATACATAAATATATGCATATATTTAATACA TAAATATATGCATATATTTAATACATAAATATATGCATATATTTAATACA TAAATATATGCATATATTTAATACATAAATATATGCATATATTTAATACA TAAATATATGCATATATTTAATACATAAATATATGCATATATTTAATACA TAAATATATGCATATATTTATACATAAATATATGCATATATTTAATACAT AAATATATGCATATATTTATATATAAAATATATGCATATATGTATATATA TAAAATATATGCATATATGTA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0022 a0001c0007t0022	a0001c0007t0022g0064 a0001c0007t0022g0064	1	128	0.0078	370	c.211 others(391): Show c.2113-34249_2113-34248insTACATATATGCATATATTTTATAT ATATACATATATGCATATATTTTATATATAAATATATGCATATATTTATG TATTAAATATATGCATATATTTATGTATAAATATATGCATATATTTATGT ATTAAATATATGCATATATTTATGTATTAAATATATGCATATATTTATGT ATTAAATATATGCATATATTTATGTATTAAATATATGCATATATTTATGT ATTAAATATATGCATATATTTATGTATTAAATATATGCATATATTTATGT ATTAAATATATGCATATATTTATGTATTAAATATATGCATATATTAAATA TATGCATATATTTATGTATTAAATATATGCATATATTTATGCATTA	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	10/10			chr1	TogoVar
KCNIP4_chr4_20723606_21953772	21346215	T T	TTATATAT others(363): Show TTATATATATAATTCTATATATATAATATATATTATATATATAATTCTAT ATATATAATATATATTATATATATATAATTCTATATATATATAATTCTAT ATATATATATATCTATATATATATAATTCTATATATATATATAATTCTAT ATATATATATTATATATATATAATTCTATATATATAATATATATTATATA TATATTCTATATATATAATATATATTATATATATAATTCTATATATATAA TATATTATATATATAATATATATTATATATATAATTCTATATATATAATA TATATTATATATATAATTCTATATATATAATATATATTATATATATAATT CTATATATATAATATATATTA	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0010 a0001c0002t0001g0010	1	4	0.2500	370	c.62- others(389): Show c.62-463507_62-463506insTAATATATATTATATATATAGAATTA TATATATAATATATATTATATATATAGAATTATATATATAATATATATTA TATATATAGAATTATATATATAATATATATTATATATATAATATATTATA TATATAGAATTATATATATAATATATATTATATATATAGAATATATATAT AATATATATTATATATATAGAATTATATATATATAATATATATATATAGA ATTATATATATATATAGAATTATATATATATAGATATATATATATATAGA ATTATATATATATAGAATTATATATATATAATATATATTATATATATAGA ATTATATATATAATATATATTATATATATAGAATTATATATATA	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNK9_chr8_139612121_139708123	139687464	A A	ATATATGT others(363): Show ATATATGTGTACACATATATTCATATATATGTGTACACATATATATTCAT ATATATGTGTACACATATATATTCATATATATGTGTACACATATATATTC ATATATATGTGTACACATATATATTCATATATATGTGTACACATATATAT TCATATATATGTGTACACATATATATTCATATATATGTGTACACATATAT ATTCATATATATGTGTACACATATATATTCATATATATGTGTACACATAT ATATTCATATATATGTGTATACATATATATTCATATATATGTGTATACAT ATATATTCATATATATGTGTATACATATATATTCATATATATGTGTATAC ATATATATTCATATATATGTG	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	247	0.0040	370	c.283 others(389): Show c.283+15245_283+15246insCACATATATATGAATATATATGTATA CACATATATATGAATATATATGTATACACATATATATGAATATATATGTA TACACATATATATGAATATATATGTATACACATATATATGAATATATATG TGTACACATATATATGAATATATATGTGTACACATATATATGAATATATA TGTGTACACATATATATGAATATATATGTGTACACATATATATGAATATA TATGTGTACACATATATATGAATATATATGTGTACACATATATATGAATA TATATGTGTACACATATATATGAATATATATGTGTACACATATATATGAA TATATATGTGTACACATATATATGAATATATGTGTACACATATA	KCNK9	ENSG00000169427.8	transcript	ENST00000520439.3	protein_coding	1/1			chr8	TogoVar
KCNT2_chr1_196220779_196613440	196437080	T T	TATAAATA others(363): Show TATAAATATATATTTATATACATAAATATATTTATATATAAATATATATT TTTATATATATTTATATATAAATATATATTTTTATATATATTTATATATA AATATATATTTTTATATATATTTATGTATATATTTATATATAAATATATA TTTATATATTTATATATATTTATATATATACATAAATATATATTTATATA TATTTATATATATACATAAATATATATTTATATATAAATATATATTTATA TATTTATATATATTTATATACATAAATATATATTTATATATATTTATATA CATAAATATATATTTATATATATTTATATATATTTATATACATAAATATA TATTTATATATATTTATATAC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	50	0.0200	370	c.639 others(387): Show c.639-7324_639-7323insGTATATAAATATATATAAATATATATTT ATGTATATAAATATATATAAATATATATAAATATATATTTATGTATATAA ATATATATAAATATATATTTATGTATATAAATATATATAAATATATAAAT ATATATTTATATATAAATATATATTTATGTATATATATAAATATATATAA ATATATATTTATGTATATATATAAATATATATAAATATATAAATATATAT TTATATATAAATATATACATAAATATATATAAAAATATATATTTATATAT AAATATATATAAAAATATATATTTATATATAAATATATATAAAAATATAT ATTTATATATAAATATATTTATGTATATAAATATATATTTAT	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	8/27			chr1	TogoVar
KCNT2_chr1_196220779_196613440	196437080	T T	TATAAATA others(363): Show TATAAATATATATTTATATACATAAATATATTTATATATAAATATATATT TTTATATATATTTATATATAAATATATATTTTTATATATATTTATGTATA TATTTATATATAAATATATATTTATATATTTATATATATTTATATATATA CATAAATATATATTTATATATATTTATATATATACATAAATATATATTTA TATATAAATATATATTTATATATTTATATATATTTATATACATAAATATA TATTTATATATATTTATATACATAAATATATATTTATATATATTTATATA CATAAATATATATTTATATATATTTATATATATTTATATACATAAATATA TATTTATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	50	0.0200	370	c.639 others(387): Show c.639-7324_639-7323insGTATATATATATATATAAATATATATTT ATGTATATAAATATATATAAATATATATAAATATATATTTATGTATATAA ATATATATAAATATATATTTATGTATATAAATATATATAAATATATATTT ATGTATATAAATATATATAAATATATAAATATATATTTATATATAAATAT ATATTTATGTATATATATAAATATATATAAATATATATTTATGTATATAT ATAAATATATATAAATATATAAATATATATTTATATATAAATATATACAT AAATATATATAAAAATATATATTTATATATAAATATATATAAAAATATAT ATTTATATATAAATATATTTATGTATATAAATATATATTTAT	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	8/27			chr1	TogoVar
KCNT2_chr1_196220779_196613440	196437080	T T	TATAAATA others(363): Show TATAAATATATATTTATATACATAAATATATTTATATATAAATATATATT TTTATATATATTTATATATAAATATATATTTTTATATATATTTATGTATA TATTTATATATAAATATATATTTATATATTTATATATATTTATATATATA CATAAATATATATTTATATATATTTATATATATACATAAATATATATTTA TATATAAATATATATTTATATATTTATATATATTTATATACATAAATATA TATTTATATATATTTATATACATAAATATATATTTATATATATTTATATA TATTTATATACATAAATATATATTTATATATATTTATATACATAAATATA TATTTATATATATTTATATAC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	50	0.0200	370	c.639 others(387): Show c.639-7324_639-7323insGTATATAAATATATATAAATATATATTT ATGTATATAAATATATATAAATATATATTTATGTATATAAATATATATAA ATATATATAAATATATATTTATGTATATAAATATATATAAATATATATTT ATGTATATAAATATATATAAATATATAAATATATATTTATATATAAATAT ATATTTATGTATATATATAAATATATATAAATATATATTTATGTATATAT ATAAATATATATAAATATATAAATATATATTTATATATAAATATATACAT AAATATATATAAAAATATATATTTATATATAAATATATATAAAAATATAT ATTTATATATAAATATATTTATGTATATAAATATATATTTAT	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	8/27			chr1	TogoVar
KCNT2_chr1_196220779_196613440	196437080	T T	TATAAATA others(363): Show TATAAATATATATTTATATACATAAATATATTTATATATAAATATATATT TTTATATATATTTATGTATATATTTATATATAAATATATATGTATATATT TATATATATTTATGTATATATATAAATATATATTTATATATATTTATATA TATACATAAATATATATTTATATATAAATATATATTTATATATTTATATA TATTTATATACATAAATATATATTTATATATATTTATATATATTTATATA CATAAATATATATTTATATATATTTATATACATAAATATATATTTATATA TATTTATATACATAAATATATATTTATATATATTTATATACATAAATATA TATTTATATATATTTATATAC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	50	0.0200	370	c.639 others(387): Show c.639-7324_639-7323insGTATATAAATATATATAAATATATATTT ATGTATATAAATATATATAAATATATATTTATGTATATAAATATATATAA ATATATATTTATGTATATAAATATATATAAATATATATTTATGTATATAA ATATATATAAATATATATAAATATATATTTATGTATATAAATATATATAA ATATATAAATATATATTTATATATAAATATATATTTATGTATATATATAA ATATATATAAATATATATTTATATATATACATAAATATATATAAATATAT ACATATATATTTATATATAAATATATACATAAATATATATAAAAATATAT ATTTATATATAAATATATTTATGTATATAAATATATATTTAT	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	8/27			chr1	TogoVar
KDM4B_chr19_4964113_5158598	5131538	A A	AGGGGCAG others(363): Show AGGGGCAGGTGGGGTGGAGCGGGGGAGGCAGGGAGGAGGGGGGCAGGTGG GGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCG GGGGAGGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGA GGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGA GGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCAC AGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGGGGGGCAGGTGGG GTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGG GGGAGGGGGGCAGGGAGGAGG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0019 a0019	a0019c0036 a0019c0036	a0019c0036t0003 a0019c0036t0003	a0019c0036t0003g0014 a0019c0036t0003g0014	1	237	0.0042	370	c.178 others(387): Show c.1785+102_1785+103insGCAGGGAGGAGGGGGGCAGGTGGGGTGG GGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGA GGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGG CAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGG GGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGG AGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGA GCGGGGGAGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAG GGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGG	KDM4B	ENSG00000127663.15	transcript	ENST00000159111.9	protein_coding	12/22		INFO_REALIGN_3_PRIME	chr19	TogoVar
KDM4B_chr19_4964113_5158598	5131563	A A	AGGCAGGG others(363): Show AGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAG GTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGGGGG GCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGC TGGTGGCGGGGGAGGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCA GGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGG GGCAGGGAGGAGGGGGGCAGGTGGGGTGGAGCGGGGGAGGCAGGGAGGAG GGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGG GAGCTGGTGGCGGGGGAGGGG	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	162	0.0062	370	c.178 others(387): Show c.1785+102_1785+103insGCAGGGAGGAGGGGGGCAGGTGGGGTGG GGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGA GGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGG CAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGG GGGGCAGGTGGGGTGGAGCGGGGGAGGCAGGGAGGAGGGGGGCAGGTGGG GTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGG GGGAGGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAG GGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGG	KDM4B	ENSG00000127663.15	transcript	ENST00000159111.9	protein_coding	12/22		INFO_REALIGN_3_PRIME	chr19	TogoVar
LHPP_chr10_124456823_124619141	124471641	A A	ATATATAT others(363): Show ATATATATTTATATATATATTTATATATATATTTATATATATTTATATAT ATTTATATATATATTTATATATATATTTATATATATATTTATATATATTT ATATATATATATTTTTATATATATTTATATATATTTTTATATATAGTTAT ATATATTTATATATAGTTATATATATTTATATATAGTTATGTATAGTTAT ATATAGTTATATATAGTTATATATAGTTATATATATAGTTATATATATAT ATTTTTATATATATATTTATATATATTTATATATATTTATATATATTTAT ATATATATTTATATATTTATATATGTATTTATATATATTTATATATGTAT TTATATATATTTATATATAAT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0258 a0003c0003t0002g0258	1	209	0.0048	370	c.125 others(387): Show c.125+9659_125+9660insATTTATATATATATTTATATATATATTT ATATATATTTATATATATTTATATATATATTTATATATATATTTATATAT ATATTTATATATATTTATATATATATATTTTTATATATATTTATATATAT TTTTATATATAGTTATATATATTTATATATAGTTATATATATTTATATAT AGTTATGTATAGTTATATATAGTTATATATAGTTATATATAGTTATATAT ATAGTTATATATATATATTTTTATATATATATTTATATATATTTATATAT ATTTATATATATTTATATATATATTTATATATTTATATATGTATTTATAT ATATTTATATATGTATTTATATATATTTATATATAATTATAT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LMF1_chr16_848634_975984	859664	C C	CGGGTGCG others(363): Show CGGGTGCGAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCACGGGACGGG TGCGAGTGGTGTCACGGGAGGGGTGCGAGTGGTGTCTCGGGACGGGTGCG AGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGCGAGTG GTGTCACGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGT CTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTC GGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGG TGGGTGTGAGTGGTGTCTCGGGGTGGGTGTGAGTGGTGTCTCGGGGTGGG TGTGCAGTGGTGTCTCGGGAT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0061 a0001c0004t0001g0061	1	188	0.0053	370	c.153 others(389): Show c.1530-4959_1530-4958insATCCCGAGACACCACTGCACACCCAC CCCGAGACACCACTCACACCCACCCCGAGACACCACTCACACCCACCCCG TGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGAC ACCACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACC ACTCACACCCGTCCCGAGACACCACTCGCACCCGTCCCGTGACACCACTC GCACCCGTCCCGAGACACCACTCGCACCCGTCCCGAGACACCACTCGCAC CCGTCCCGAGACACCACTCGCACCCCTCCCGTGACACCACTCGCACCCGT CCCGTGACACCACTCGCACCCGTCCCGAGACACCACTCGCACCC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar

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