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
SLC22A3_chr6_160343378_160457577	160456839	G G	GCGGTGGT others(475): Show GCGGTGGTGATGGTGATGGTGGTGATGATGTTGAGAATGATGATAATGGT GATGGTGGTGGAATGGTGGTGATGGTGATGGCGGTGGTAGTGGTAGTGAT GATGATGGCGGTGATGATGGCGGTGGTGATGGTGATGGTGGTGGTGATGT TGAGAGTGATGATAATGGTGATGGTGGTGGAATGGTGGTGATGGTGATGG CGGTGGTAGTGGTAGTGATGATGATGGCGGTGATGATGGCAGTGGTGATG GTGATGGTGGTGATGATGTTGAGAGTGATGATAATGGTGATGGTGGTGAT GGTGATGATGGTGGTAGTGGTAGTAATGATGATGGTGGTGATGATGGCGG TGGTGATGGTGGTGGTGATGTTGAGAGTGATGGTAATGGTGATGGTGGTG CAATGGTGTGATGGTGATGGTGGTAGTGGTAGTAGTAATGATGGTGGTGC TGATGGTGATGGTGGTGGTGATGTTGAGAGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0008	1	316	0.0032	482	c.57 others(493): Show c.5783_*5784insCGGTGGTGATGGTGATGGTGGTGATGATGTTGAG AATGATGATAATGGTGATGGTGGTGGAATGGTGGTGATGGTGATGGCGGT GGTAGTGGTAGTGATGATGATGGCGGTGATGATGGCGGTGGTGATGGTGA TGGTGGTGGTGATGTTGAGAGTGATGATAATGGTGATGGTGGTGGAATGG TGGTGATGGTGATGGCGGTGGTAGTGGTAGTGATGATGATGGCGGTGATG ATGGCAGTGGTGATGGTGATGGTGGTGATGATGTTGAGAGTGATGATAAT GGTGATGGTGGTGATGGTGATGATGGTGGTAGTGGTAGTAATGATGATGG TGGTGATGATGGCGGTGGTGATGGTGGTGGTGATGTTGAGAGTGATGGTA ATGGTGATGGTGGTGCAATGGTGTGATGGTGATGGTGGTAGTGGTAGTAG TAATGATGGTGGTGCTGATGGTGATGGTGGTGGTGATGTTGAGAGTGA	SLC22A3	ENSG00000146477.6	transcript	ENST00000275300.3	protein_coding		4263		chr6	TogoVar
SLC2A8_chr9_127392169_127412898	127408233	C C	CCACTGTA others(475): Show CCACTGTACTCCAGCCTGGGAGACAGAACAAGACCCCAACCCCACCCCCC GCAAAAAAAAAAAAAAAAAAAAAAAAAGATTTCAGTTCTATCTTGAAAGA TCTCACTTCCAACACACATGCTGTCTAGCAACACTAAGTAGAGGGGACCA TTCTTCCCAACTCACGGCTGCTTTGTCCACTTCCCAGACCTGCAGCCCCA GCACCTGCCCACCTTGGCATCTCCCATTAAGTCACATAATGAGGGCAGAG AGCAGGGGCCTGTTTTTGCGGACACTTGAAGTACAGCATGGACCAGGCAG AGCAAGGCGCCGGATCAGATCAGTTCCAGAAGATATGCAGCAGCTGCTCT GATTTCAGTGAAATGTGTGAAACCATGCACAGGACTTTGGACAACTCTCA GCTGTAGCAAATCCAGTTTCCCCTTGGGCCTTCCAGAAGCAGGGTCCTGT CTCCACGCAGGAGCATCTCCCGTGGCAATGGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0103 a0001c0002t0004g0103	1	238	0.0042	482	c.98 others(491): Show c.984_*985insCACTGTACTCCAGCCTGGGAGACAGAACAAGACCCC AACCCCACCCCCCGCAAAAAAAAAAAAAAAAAAAAAAAAAGATTTCAGTT CTATCTTGAAAGATCTCACTTCCAACACACATGCTGTCTAGCAACACTAA GTAGAGGGGACCATTCTTCCCAACTCACGGCTGCTTTGTCCACTTCCCAG ACCTGCAGCCCCAGCACCTGCCCACCTTGGCATCTCCCATTAAGTCACAT AATGAGGGCAGAGAGCAGGGGCCTGTTTTTGCGGACACTTGAAGTACAGC ATGGACCAGGCAGAGCAAGGCGCCGGATCAGATCAGTTCCAGAAGATATG CAGCAGCTGCTCTGATTTCAGTGAAATGTGTGAAACCATGCACAGGACTT TGGACAACTCTCAGCTGTAGCAAATCCAGTTTCCCCTTGGGCCTTCCAGA AGCAGGGTCCTGTCTCCACGCAGGAGCATCTCCCGTGGCAATGGCT	SLC2A8	ENSG00000136856.18	transcript	ENST00000373371.8	protein_coding		336		chr9	TogoVar
SLC2A8_chr9_127392169_127412898	127408233	C C	CCACTGTA others(475): Show CCACTGTACTCCAGCCTGGGAGACAGAACAAGACCCCAACCCCACCCCCG CAAAAAAAAAAAAAAAAAAAAAAAAAAAATTTCAGTTCTATCTTGAAAGA TCTCACTTCCAACACACATGCTGTCTAGCAACACTAAGTAGAGGGGACCA TTCTTCCCAACTCACGGCTGCTTTGTCCACTTCCCAGACCTGCAGCCCCA GCACCTGCCCACCTTGGCATCTCCCATTAAGTCACATAATGAGGGCAGAG AGCAGGGGCCTGTTTTTGCGGACACTTGAAGTACAGCATGGACCAGGCAG AGCAAGGCGCCGGATCAGATCAGTTCCAGAAGATATGCAGCAGCTGCTCT GATTTCAGTGAAATGTGTGAAACCATGCACAGGACTTTGGACAACTCTCA GCTGTAGCAAATCCAGTTTCCCCTTGGGCCTTCCAGAAGCAGGGTCCTGT CTCCGCGCAGGAGCATCTCCCGTGGCAATGGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp2 HG02258.hp2 NA18906.hp1 others(1): Show HG01981.hp2 HG02258.hp2 NA18906.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0002 a0002c0006t0002 a0001c0001t0002 a0002c0006t0002	a0001c0001t0002g0013 a0001c0001t0002g0017 a0002c0006t0002g0001 others(1): Show a0001c0001t0002g0013 a0001c0001t0002g0017 a0002c0006t0002g0001 a0002c0006t0002g0019	4	241	0.0166	482	c.98 others(491): Show c.984_*985insCACTGTACTCCAGCCTGGGAGACAGAACAAGACCCC AACCCCACCCCCGCAAAAAAAAAAAAAAAAAAAAAAAAAAAATTTCAGTT CTATCTTGAAAGATCTCACTTCCAACACACATGCTGTCTAGCAACACTAA GTAGAGGGGACCATTCTTCCCAACTCACGGCTGCTTTGTCCACTTCCCAG ACCTGCAGCCCCAGCACCTGCCCACCTTGGCATCTCCCATTAAGTCACAT AATGAGGGCAGAGAGCAGGGGCCTGTTTTTGCGGACACTTGAAGTACAGC ATGGACCAGGCAGAGCAAGGCGCCGGATCAGATCAGTTCCAGAAGATATG CAGCAGCTGCTCTGATTTCAGTGAAATGTGTGAAACCATGCACAGGACTT TGGACAACTCTCAGCTGTAGCAAATCCAGTTTCCCCTTGGGCCTTCCAGA AGCAGGGTCCTGTCTCCGCGCAGGAGCATCTCCCGTGGCAATGGCT	SLC2A8	ENSG00000136856.18	transcript	ENST00000373371.8	protein_coding		336		chr9	TogoVar
SLC2A8_chr9_127392169_127412898	127408233	C C	CCACTGTA others(475): Show CCACTGTACTCCAGCCTGGGAGACAGAACAAGACCCCAACCCCACCCCCG CAAAAAAAAAAAAAAAAAAAAAAAAAAGATTTCAGTTCTATCTTGAAAGA TCTCACTTCCAACACACATGCTGTCTAGCAACACTAAGTAGAGGGGACCA TTCTTCCCAACTCACGGCTGCTTTGTCCACTTCCCAGACCTGCAGCCCCA GCACCTGCCCACCTTGGCATCTCCCATTAAGTCACATAATGAGGGCAGAG AGCAGGGGCCTGTTTTTGCGGACACTTGAAGTACAGCATGGACCAGGCAG AGCAAGGCGCCGGATCAGATCAGTTCCAGAAGATATGCAGCAGCTGCTCT GATTTCAGTGAAATGTGTGAAACCATGCACAGGACTTTGGACAACTCTCA GCTGTAGCAAATCCAGTTTCCCCTTGGGCCTTCCAGAAGCAGGGTCCTGT CTCCACGCAGGAGCATCTCCCGTGGCAATGGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG03516.hp2 HG00642.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0071 a0001c0003t0001g0105 a0001c0001t0001g0071 a0001c0003t0001g0105	2	239	0.0084	482	c.98 others(491): Show c.984_*985insCACTGTACTCCAGCCTGGGAGACAGAACAAGACCCC AACCCCACCCCCGCAAAAAAAAAAAAAAAAAAAAAAAAAAGATTTCAGTT CTATCTTGAAAGATCTCACTTCCAACACACATGCTGTCTAGCAACACTAA GTAGAGGGGACCATTCTTCCCAACTCACGGCTGCTTTGTCCACTTCCCAG ACCTGCAGCCCCAGCACCTGCCCACCTTGGCATCTCCCATTAAGTCACAT AATGAGGGCAGAGAGCAGGGGCCTGTTTTTGCGGACACTTGAAGTACAGC ATGGACCAGGCAGAGCAAGGCGCCGGATCAGATCAGTTCCAGAAGATATG CAGCAGCTGCTCTGATTTCAGTGAAATGTGTGAAACCATGCACAGGACTT TGGACAACTCTCAGCTGTAGCAAATCCAGTTTCCCCTTGGGCCTTCCAGA AGCAGGGTCCTGTCTCCACGCAGGAGCATCTCCCGTGGCAATGGCT	SLC2A8	ENSG00000136856.18	transcript	ENST00000373371.8	protein_coding		336		chr9	TogoVar
SLC37A3_chr7_140328752_140403530	140387809	A A	AAATATAA others(475): Show AAATATAAATATATTATATATATTATACATAAATATAAATATATTATATA TATTATATATAATATAAATATATTATATATATTATATATAAATATAAATA TATTATATATATTATATATAAATATAAATATATTATATATTATATAAATA TAAATATATTATATATTATATAAATATAAATATATTATATATTATATATA AATATAAATATATTATATATTATATAAATATAAATATATTATATATTATA TATAAATATAAATATATTATATATTATATATAATATAAATATATTATATA TATTATATATAATATAAATATATTAATATATTATATATAATATAAATATA TTATATATATTATATATAATATAAATATATTATATATATTATATATAATA TAAATATATTATATATATTATATATAATATAAATATATTATATATATTAT ATATAATATAAATATATTATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0002 a0002c0013t0002	a0002c0013t0002g0300 a0002c0013t0002g0300	1	132	0.0076	482	c.-70 others(499): Show c.-70-5214_-70-5213insATATATAATATATATAATATATTTATAT TATATATAATATATATAATATATTTATATTATATATAATATATATAATAT ATTTATATTATATATAATATATATAATATATTTATATTATATATAATATA TATAATATATTTATATTATATATAATATATTAATATATTTATATTATATA TAATATATATAATATATTTATATTATATATAATATATAATATATTTATAT TTATATATAATATATAATATATTTATATTTATATAATATATAATATATTT ATATTTATATATAATATATAATATATTTATATTTATATAATATATAATAT ATTTATATTTATATAATATATAATATATTTATATTTATATATAATATATA TAATATATTTATATTTATATATAATATATATAATATATTTATATTATATA TAATATATATAATATATTTATATTTATGTATAATATATATAATATATTTA TATT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SLC45A1_chr1_8313114_8349165	8322304	A A	ATGGGCGG others(475): Show ATGGGCGGGTGGGTGGATGGATGAGTGGGTGAGTGGATGGATGCATGGAT GGATGGGTGGGTGGGTGGATGGATGAGTGGGTGGATGGATGGGTGGATGG ATGGGTGGGTGGGTGGATGGATGGGTGGGTGGGGTGCGTGGGTGGGTGGA TGGATGGATGGATGAGTGGGTGAGTGGATGGATGCATGGATGGATGGGTG GGTGGGTGAATGGATGGATGAGTGGGTGGATGGATGGGTGGATGAATGGG TGGGTGGGTGCGTGGGGTGGGTGGATGGATGGATGGGTGGATGGATGCAT GGGTGGGTGGATGTATGGGTGGATGGATGCGTGGGTGGGTGGATGGATGG GTGGATGGGTGGATGGATGGATGGATAGATGGGTGTGTGGATGGATGGAT GAGTGGGTGGATGGATGGGTGGATGGATGGGTAGGTGGGTGGATGGATGG GTGGATGAGTGGATGGATGGATGGATAGATGGG	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	193	0.0052	482	c.-24 others(499): Show c.-24-1999_-24-1998insGCGGGTGGGTGGATGGATGAGTGGGTGA GTGGATGGATGCATGGATGGATGGGTGGGTGGGTGGATGGATGAGTGGGT GGATGGATGGGTGGATGGATGGGTGGGTGGGTGGATGGATGGGTGGGTGG GGTGCGTGGGTGGGTGGATGGATGGATGGATGAGTGGGTGAGTGGATGGA TGCATGGATGGATGGGTGGGTGGGTGAATGGATGGATGAGTGGGTGGATG GATGGGTGGATGAATGGGTGGGTGGGTGCGTGGGGTGGGTGGATGGATGG ATGGGTGGATGGATGCATGGGTGGGTGGATGTATGGGTGGATGGATGCGT GGGTGGGTGGATGGATGGGTGGATGGGTGGATGGATGGATGGATAGATGG GTGTGTGGATGGATGGATGAGTGGGTGGATGGATGGGTGGATGGATGGGT AGGTGGGTGGATGGATGGGTGGATGAGTGGATGGATGGATGGATAGATGG GTGG	SLC45A1	ENSG00000162426.16	transcript	ENST00000471889.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC6A3_chr5_1387794_1450440	1422351	A A	ATGCTGGG others(475): Show ATGCTGGGTGCCCACCGCTGCCCAGTGCTGCCCACGCTGCTGGGTACCCA CCACTGCCCACAGTGCTGCCCACGCTGCTGGGTACCCACCGCTGCCCAGT GCTGCCCACGCTGCTGGGTGCCCACCGCTGCCCACGGTGCTGCCCACGCT GCTGGGTGCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGTGCCCA CCGCTGCCCACGGTGCTGCCCAAGGTGCTGGGTACCCACCGCTGCCCAGT GCTGCCCACGCTGCTGGGTACCCACCGCTGCCCAGTGCTGCCCACGGTGC TGGGTGCCCACCGCTGCCCACGGTGCTGCCCACGCTGCTGGGTGCCCACC GCTGCCCACGGTGCTGCCCAAGGTGCTGGGTACCCACCGCTGCCCAGTGC TGCCCACGCTGCTGGGTACCCACCGCTGCCCAGTGCTGCCCACGGTGCTG GGTGCCCACCGCTGCCCACAGTGCTGCCCACGC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02486.hp1 HG02717.hp2 others(2): Show HG01891.hp1 HG02486.hp1 HG02717.hp2 HG03471.hp1 HG03540.hp2	a0001 a0001	a0001c0003 a0001c0007 a0001c0003 a0001c0007	a0001c0003t0008 a0001c0007t0001 a0001c0007t0002 others(1): Show a0001c0003t0008 a0001c0007t0001 a0001c0007t0002 a0001c0007t0007	a0001c0003t0008g0135 a0001c0007t0001g0137 a0001c0007t0002g0138 others(2): Show a0001c0003t0008g0135 a0001c0007t0001g0137 a0001c0007t0002g0138 a0001c0007t0007g0136 a0001c0007t0007g0139	5	368	0.0136	482	c.654 others(497): Show c.654-338_654-337insGCGTGGGCAGCACTGTGGGCAGCGGTGGGC ACCCAGCACCGTGGGCAGCACTGGGCAGCGGTGGGTACCCAGCAGCGTGG GCAGCACTGGGCAGCGGTGGGTACCCAGCACCTTGGGCAGCACCGTGGGC AGCGGTGGGCACCCAGCAGCGTGGGCAGCACCGTGGGCAGCGGTGGGCAC CCAGCACCGTGGGCAGCACTGGGCAGCGGTGGGTACCCAGCAGCGTGGGC AGCACTGGGCAGCGGTGGGTACCCAGCACCTTGGGCAGCACCGTGGGCAG CGGTGGGCACCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCACCC AGCAGCGTGGGCAGCACCGTGGGCAGCGGTGGGCACCCAGCAGCGTGGGC AGCACTGGGCAGCGGTGGGTACCCAGCAGCGTGGGCAGCACTGTGGGCAG TGGTGGGTACCCAGCAGCGTGGGCAGCACTGGGCAGCGGTGGGCACCCAG CA	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	4/14			chr5	TogoVar
SMIM36_chr17_55444856_55516452	55501087	A A	ATATTATA others(475): Show ATATTATATTTTATATTATAATATATAATATATATTATATTTTATATTAT AATATATAATATAATATATATTATATTTTATGATATATAATATATATTAT ATTTTATGATATATAATATACATTATATTTTATGATATATAATATACATT ATATTTTATGATATATAATATACATTATATTTTATGATATATAATATACA TTATATTTTATGATATATAATATACATTATATTTTATGATATATAATATA CATTATATTTTATGATATATAATATACATTATATTTTATGATATATAATA TACATTATATTTTATGATATATAATATACATTATATTTTATGATATATAA TATACATTATATTTTATGATATATAATATACATTATATTTTATGATATAT AATATACATTATATTTTATGATATATAATATACATTATATTTTATGATAT ATAATATATATTATATTTTATGATATATAATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0232 a0001c0001t0011g0232	1	161	0.0062	482	c.17 others(501): Show c.174+9791_*174+9792insATATTATATATCATAAAATATAATAT ATATTATATATCATAAAATATAATGTATATTATATATCATAAAATATAAT GTATATTATATATCATAAAATATAATGTATATTATATATCATAAAATATA ATGTATATTATATATCATAAAATATAATGTATATTATATATCATAAAATA TAATGTATATTATATATCATAAAATATAATGTATATTATATATCATAAAA TATAATGTATATTATATATCATAAAATATAATGTATATTATATATCATAA AATATAATGTATATTATATATCATAAAATATAATGTATATTATATATCAT AAAATATAATGTATATTATATATCATAAAATATAATGTATATTATATATC ATAAAATATAATATATATTATATATCATAAAATATAATATATATTATATT ATATATTATAATATAAAATATAATATATATTATATATTATAATATAAAAT ATAATA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMYD3_chr1_245744347_246512279	246325156	G G	GGGGGGCG others(475): Show GGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAA GGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGA GGGAGAAGGAGTCGGGGGGGCAGGAAGGAGGGAGAAGGAGTCGGGGGGCG GGAAGGAGGGAGAAGGAGTCGGGGGGGCAGGAAGGAGGGAGAAGGAGTCG GGGGGCAGGAAGGAGGGAGAAGGAGTCGGGGGGCAGGAAGGAGGGAGAAG GAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGAAGGA GGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCA GGAAGGAGGGAGAAGGAGTCGGGGGGCAGGAAGGAGGGAGAAGGAGTCGG GGGGCAGGAAGGAGGGAGAAGGAGTCGGGGGGCAGGAAGGAGGGAGAAGG AGTCGGGGGGGCAGGAAGGAGGGAGAAGGAGTC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0001 a0004c0010t0001	a0004c0010t0001g0077 a0004c0010t0001g0077	1	142	0.0070	482	c.531 others(499): Show c.531+2044_531+2045insGACTCCTTCTCCCTCCTTCCTGCCCCCC CGACTCCTTCTCCCTCCTTCCTGCCCCCCGACTCCTTCTCCCTCCTTCCT GCCCCCCGACTCCTTCTCCCTCCTTCCTGCCCCCCGACTCCTTCTCCCTC CTTCCTGCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTT CTCCCTCCTTCCCGCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCC GACTCCTTCTCCCTCCTTCCTGCCCCCCGACTCCTTCTCCCTCCTTCCTG CCCCCCGACTCCTTCTCCCTCCTTCCTGCCCCCCCGACTCCTTCTCCCTC CTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCTGCCCCCCCGACTCCTT CTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCG ACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGC CCCC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SNTG2_chr2_945849_1372613	1221967	G G	GTTTCTCT others(475): Show GTTTCTCTCTGTCTCTGTCTCTGCCTATCTCTGTCTCTCTCTGTCTCTGT CTCTGTTTCTCTCTGTCTCTGTCTCTCTCTGTCTCTGTCTCTGTTTCTCT CTCTCTCTGTCTCTGCCTATCTTTGTCTCTCTCTGTCTCTGTCTCCGTCT CTCTCTGTCTCTGTCTCTGTCTCTCTCTCTCTGTCTCTCTCTGTCTCTGT CTCTGTCTCTCTCTGTCTCTCTCTGTCTCTGCCTCTCTCTGTCTCTGTCT CTATCTCTGTCTCTGTCTCTATCTCTGTCTCTGTCTCTCTCTGTCTCTCT GTCTCTCTCTGTCTCTCTCTGTCTCTGTCTCTAGCTCTGCCTCTGTTAGT CCCTCTCTGTCTCTCCCTGTCTCTGTCTCTCTGTCGCTGTCTCTGCCTCT GTCTCTGTCTCTCTCCGTCTCTCTCTGTCTCTCTCTGTCTCTGTCTCTCT CTGTCTCTCTCTGTCTCTCTCTGTCTCTGCCTA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0079 a0005c0006t0001g0079	1	156	0.0064	482	c.719 others(501): Show c.719+12738_719+12739insTTCTCTCTGTCTCTGTCTCTGCCTAT CTCTGTCTCTCTCTGTCTCTGTCTCTGTTTCTCTCTGTCTCTGTCTCTCT CTGTCTCTGTCTCTGTTTCTCTCTCTCTCTGTCTCTGCCTATCTTTGTCT CTCTCTGTCTCTGTCTCCGTCTCTCTCTGTCTCTGTCTCTGTCTCTCTCT CTCTGTCTCTCTCTGTCTCTGTCTCTGTCTCTCTCTGTCTCTCTCTGTCT CTGCCTCTCTCTGTCTCTGTCTCTATCTCTGTCTCTGTCTCTATCTCTGT CTCTGTCTCTCTCTGTCTCTCTGTCTCTCTCTGTCTCTCTCTGTCTCTGT CTCTAGCTCTGCCTCTGTTAGTCCCTCTCTGTCTCTCCCTGTCTCTGTCT CTCTGTCGCTGTCTCTGCCTCTGTCTCTGTCTCTCTCCGTCTCTCTCTGT CTCTCTCTGTCTCTGTCTCTCTCTGTCTCTCTCTGTCTCTCTCTGTCTCT GCCTAT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX9_chr6_157818246_157950077	157827089	C C	CATATATT others(475): Show CATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAA TATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGT TATATAATATATAAACATATATTATAGTTTATATAATATATAAACATATA TTATAGTTTATATAATATATAAACATATATTATAGTTTAATATAATATAT AAACATATATTATAGTTTATATAATATATAAACATATAGTTTATATAATA TATAAACATATAGTTTATATAATATATAAACATATATTATAGTTTATATA ATATATACACATATATTATAGTTTATATAATATATACACATATATTATAG TTTATATAATATATACACATATATTATAGTTTATATAATATATACACATA TATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATA TAAAATATATTATAGTTTATATAATATATACAT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	210	0.0048	482	c.12+ others(497): Show c.12+3669_12+3670insAACATATATTATAGTTTATATAATATATAA ACATATATTATAGTTTATATAATATATAAACATATATTATAGTTATATAA TATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGT TTATATAATATATAAACATATATTATAGTTTAATATAATATATAAACATA TATTATAGTTTATATAATATATAAACATATAGTTTATATAATATATAAAC ATATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATA CACATATATTATAGTTTATATAATATATACACATATATTATAGTTTATAT AATATATACACATATATTATAGTTTATATAATATATACACATATATTATA GTTTATATAATATATACACATATATTATAGTTTATATAATATATAAAATA TATTATAGTTTATATAATATATACATATATATTATAGTTTATATAATATA TA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157827335	T T	TATATAAT others(475): Show TATATAATATATAAACATATAGTTTATATAATATATAAACATATAGTTTA TATAATATATAAACATATATTATAGTTTATATAATATATAAACATATATT ATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATACA CATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAA TATATACACATATATTATAGTTTATATAATATATACACATATATTATAGT TTATATAATATATACACATATATTATAGTTTATATAATATATAAAATATA TTATAGTTTATATAATATATACATATATATTATAGTTTATATAATATATA AACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATAT AATATATAAACATATATTATAGTTTATATAATATATAAACATATATTATA GTTCATATAATATATAAACATATATTATAGTTC	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	294	0.0034	482	c.12+ others(497): Show c.12+3909_12+3910insGTTTATATAATATATAAACATATAGTTTAT ATAATATATAAACATATATTATAGTTTATATAATATATAAACATATATTA TAGTTTATATAATATATACACATATATTATAGTTTATATAATATATACAC ATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAAT ATATACACATATATTATAGTTTATATAATATATACACATATATTATAGTT TATATAATATATACACATATATTATAGTTTATATAATATATAAAATATAT TATAGTTTATATAATATATACATATATATTATAGTTTATATAATATATAA ACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATA ATATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAG TTCATATAATATATAAACATATATTATAGTTCATATAATATATAAACATA TA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SYTL3_chr6_158645054_158769871	158701175	G G	GGTGAGCT others(475): Show GGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGG AGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAA GGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATG AAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGA TGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGGCTGTCTGGGGGAGGAGC CGTGGGAAGAGGGTCATGGAGGAGTGTGAGCTGGGGTGTAGATGAAGGAG TGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGG AGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAA GGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATG AAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGT	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0096 a0002c0002t0001g0096	1	232	0.0043	482	c.395 others(499): Show c.395-5766_395-5765insGATGAAGGAGTGTGAGCTGGGGTGTAGA TGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTA GATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTG TAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGG TGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGG GGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCT GGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAG CTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTG AGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGGCTG TCTGGGGGAGGAGCCGTGGGAAGAGGGTCATGGAGGAGTGTGAGCTGGGG TGTA	SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
TBXAS1_chr7_139824264_140025293	139950680	A A	ACCCCCTC others(475): Show ACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGAT CCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCC CCTCGCCCTCCATCTACGGGACCCCCCTCGCCCTCCATCTACGGGATCCC CTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCT CGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCG CCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCC CTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCT CCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCC ATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCAT CTACGGGACCCCCTCGCCCTCCATCTACGGGAC	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	267	0.0037	482	c.451 others(499): Show c.451-2640_451-2639insTCCCCTCGCCCTCCATCTACGGGACCCC CTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCC TCGCCCTCCATCTACGGGATCCCCTCGCCCTCCATCTACGGGACCCCCTC GCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGC CCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCC TCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTC CATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCA TCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATC TACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTA CGGGACCCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTAC GGGA	TBXAS1	ENSG00000059377.19	transcript	ENST00000448866.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
TCEA3_chr1_23375909_23429748	23392405	T T	TCATACAC others(475): Show TCATACACACACACTCCACACATCATACACAAAACACACTCCACACATCA TACACACACACTCCACACATCATACACACACACTCCACACATCATACACA CACACTCCACACATCATACATAAAACACACTCCACACATCATACACACCA CACACACTCCACACATCGTACACAAAACACACTCCACACATCATACACAA AACACACTCCACACATCATACACACCACATACACTCCACACATCATACAC ACACACTCCACACATCATACACACACACTCCACACGTCATACACACACAC ACACTCCACACATCATACACAATACACACTCCACACATCATACACAATAC ACACTCCACACATCATACACACACACTCCACACATCATACACAATACACA CTCCACACATCATACACAAAACACACTCCACACATCATACACACACACTC CACACATCATGCACAATACACACACACTCCACA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(145): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00741.hp1 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01516.hp2 HG01934.hp2 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02145.hp2 HG02258.hp2 HG02273.hp1 HG02602.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02886.hp2 HG02922.hp1 HG03017.hp2 HG03225.hp2 HG03239.hp2 HG03491.hp1 HG03492.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp2 HG03831.hp2 HG04184.hp1 NA18747.hp2 NA18941.hp2 NA18942.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp2 NA18975.hp2 NA18978.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18989.hp1 NA18990.hp1 NA18997.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19012.hp1 NA19043.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19074.hp2 NA19077.hp2 NA19080.hp2 NA19081.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19087.hp1 NA19088.hp2 NA19089.hp2 NA19090.hp1 NA19091.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0002c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(132): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0002g0018 a0001c0001t0002g0197 a0001c0001t0002g0199 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0225 a0001c0001t0002g0268 a0001c0001t0002g0279 a0001c0001t0002g0336 a0001c0001t0004g0033 a0001c0001t0004g0042 a0001c0001t0004g0067 a0001c0001t0004g0072 a0001c0001t0004g0095 a0001c0001t0004g0111 a0001c0001t0004g0128 a0001c0001t0004g0140 a0002c0003t0001g0150	148	153	0.9673	482	c.819 others(499): Show c.819+1473_819+1474insTGTGGAGTGTGTGTGTATTGTGCATGAT GTGTGGAGTGTGTGTGTATGATGTGTGGAGTGTGTTTTGTGTATGATGTG TGGAGTGTGTATTGTGTATGATGTGTGGAGTGTGTGTGTATGATGTGTGG AGTGTGTATTGTGTATGATGTGTGGAGTGTGTATTGTGTATGATGTGTGG AGTGTGTGTGTGTGTATGACGTGTGGAGTGTGTGTGTATGATGTGTGGAG TGTGTGTGTATGATGTGTGGAGTGTATGTGGTGTGTATGATGTGTGGAGT GTGTTTTGTGTATGATGTGTGGAGTGTGTTTTGTGTACGATGTGTGGAGT GTGTGTGGTGTGTATGATGTGTGGAGTGTGTTTTATGTATGATGTGTGGA GTGTGTGTGTATGATGTGTGGAGTGTGTGTGTATGATGTGTGGAGTGTGT GTGTATGATGTGTGGAGTGTGTTTTGTGTATGATGTGTGGAGTGTGTGTG TATG	TCEA3	ENSG00000204219.11	transcript	ENST00000450454.7	protein_coding	8/10			chr1	TogoVar
TCEA3_chr1_23375909_23429748	23392405	T T	TCATACAC others(475): Show TCATACACACACACTCCACACATCATACACAAAACACACTCCACACATCA TACACACACACTCCACACATCATACACACACACTCCACACATCATACACA CACACTCCACACATCATACATAAAACACACTCCACACATCATACACACCA CACACACTCCACACATCGTACACAAAACACACTCCACACATCATACACAA AACACACTCCACACATCATACACACCACATACACTCCACACATCATACAC ACACACTCCACACATCATACACACACACTCCACACGTCATACACACACAC ACACTCCACACATCATACACAATACACACTCCACACATCATACACAATAC ACACTCCACACATCATACACACACACTCCACACATCATACACAATACACA CTCCACACATCATACACAAAACACACTCCACACATCATACACACACACTC CATACATCATGCACAATACACACACACTCCACA	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	6	0.1667	482	c.819 others(499): Show c.819+1473_819+1474insTGTGGAGTGTGTGTGTATTGTGCATGAT GTATGGAGTGTGTGTGTATGATGTGTGGAGTGTGTTTTGTGTATGATGTG TGGAGTGTGTATTGTGTATGATGTGTGGAGTGTGTGTGTATGATGTGTGG AGTGTGTATTGTGTATGATGTGTGGAGTGTGTATTGTGTATGATGTGTGG AGTGTGTGTGTGTGTATGACGTGTGGAGTGTGTGTGTATGATGTGTGGAG TGTGTGTGTATGATGTGTGGAGTGTATGTGGTGTGTATGATGTGTGGAGT GTGTTTTGTGTATGATGTGTGGAGTGTGTTTTGTGTACGATGTGTGGAGT GTGTGTGGTGTGTATGATGTGTGGAGTGTGTTTTATGTATGATGTGTGGA GTGTGTGTGTATGATGTGTGGAGTGTGTGTGTATGATGTGTGGAGTGTGT GTGTATGATGTGTGGAGTGTGTTTTGTGTATGATGTGTGGAGTGTGTGTG TATG	TCEA3	ENSG00000204219.11	transcript	ENST00000450454.7	protein_coding	8/10			chr1	TogoVar
TCEA3_chr1_23375909_23429748	23392405	T T	TCATACAC others(475): Show TCATACACACACACTCCACACATCATACACAAAACACACTCCACACATCA TACACACACACTCCACACATCATACACACACACTCCACACATCATACACA CACACTCCACACATCGTACATAAAACACACTCCACACATCATACACACCA CACACACTCCACACATCGTACACAAAACACACTCCACACATCATACACAA AACACACTCCACACATCATACACACCACATACACTCCACACATCATACAC ACACACTCCACACATCATACACACACACTCCACACGTCATACACACACAC ACACTCCACACATCATACACAATACACACTCCACACATCATACACAATAC ACACTCCACACATCATACACACACACTCCACACATCATACACAATACACA CTCCACACATCATACACAAAACACACTCCACACATCATACACACACACTC CACACATCATGCACAATACACACACACTCCACA	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0057 a0001c0001t0004g0057	1	6	0.1667	482	c.819 others(499): Show c.819+1473_819+1474insTGTGGAGTGTGTGTGTATTGTGCATGAT GTGTGGAGTGTGTGTGTATGATGTGTGGAGTGTGTTTTGTGTATGATGTG TGGAGTGTGTATTGTGTATGATGTGTGGAGTGTGTGTGTATGATGTGTGG AGTGTGTATTGTGTATGATGTGTGGAGTGTGTATTGTGTATGATGTGTGG AGTGTGTGTGTGTGTATGACGTGTGGAGTGTGTGTGTATGATGTGTGGAG TGTGTGTGTATGATGTGTGGAGTGTATGTGGTGTGTATGATGTGTGGAGT GTGTTTTGTGTATGATGTGTGGAGTGTGTTTTGTGTACGATGTGTGGAGT GTGTGTGGTGTGTATGATGTGTGGAGTGTGTTTTATGTACGATGTGTGGA GTGTGTGTGTATGATGTGTGGAGTGTGTGTGTATGATGTGTGGAGTGTGT GTGTATGATGTGTGGAGTGTGTTTTGTGTATGATGTGTGGAGTGTGTGTG TATG	TCEA3	ENSG00000204219.11	transcript	ENST00000450454.7	protein_coding	8/10			chr1	TogoVar
TCEA3_chr1_23375909_23429748	23392405	T T	TCATACAC others(475): Show TCATACACACACACTCCGCACATCATACACAAAACACACTCCACACATCA TACACACACACTCCACACATCATACACACACACTCCACACATCATACACA CACACTCCACACATCATACATAAAACACACTCCACACATCATACACACCA CACACACTCCACACATCGTACACAAAACACACTCCACACATCATACACAA AACACACTCCACACATCATACACACCACATACACTCCACACATCATACAC ACACACTCCACACATCATACACACACACTCCACACGTCATACACACACAC ACACTCCACACATCATACACAATACACACTCCACACATCATACACAATAC ACACTCCACACATCATACACACACACTCCACACATCATACACAATACACA CTCCACACATCATACACAAAACACACTCCACACATCATACACACACACTC CACACATCATGCACAATACACACACACTCCACA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03831.hp1 HG03834.hp2 others(1): Show HG03490.hp2 HG03831.hp1 HG03834.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0005 a0001c0001t0001g0055 a0001c0001t0001g0056	4	9	0.4444	482	c.819 others(499): Show c.819+1473_819+1474insTGTGGAGTGTGTGTGTATTGTGCATGAT GTGTGGAGTGTGTGTGTATGATGTGTGGAGTGTGTTTTGTGTATGATGTG TGGAGTGTGTATTGTGTATGATGTGTGGAGTGTGTGTGTATGATGTGTGG AGTGTGTATTGTGTATGATGTGTGGAGTGTGTATTGTGTATGATGTGTGG AGTGTGTGTGTGTGTATGACGTGTGGAGTGTGTGTGTATGATGTGTGGAG TGTGTGTGTATGATGTGTGGAGTGTATGTGGTGTGTATGATGTGTGGAGT GTGTTTTGTGTATGATGTGTGGAGTGTGTTTTGTGTACGATGTGTGGAGT GTGTGTGGTGTGTATGATGTGTGGAGTGTGTTTTATGTATGATGTGTGGA GTGTGTGTGTATGATGTGTGGAGTGTGTGTGTATGATGTGTGGAGTGTGT GTGTATGATGTGTGGAGTGTGTTTTGTGTATGATGTGCGGAGTGTGTGTG TATG	TCEA3	ENSG00000204219.11	transcript	ENST00000450454.7	protein_coding	8/10			chr1	TogoVar
TERT_chr5_1248167_1300068	1273043	A A	ACATCAGA others(475): Show ACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGA CCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCA CCACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCC ACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACA GTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGA CCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACAACCGCCA TCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACAT CAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGC CATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCAC ACATCAGACCCCACAACCGCCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0051 a0001c0004t0001g0051	1	383	0.0026	482	c.228 others(499): Show c.2287-764_2287-763insGTGACTGTGGATGGCGGTTGTGGGGTCT GATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGT GGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGG GTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACT GTGGATGGCGGTTGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCG TGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTG GTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCG GTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATG TGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGAT GGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCT GATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TOX_chr8_58800412_59124147	59092275	A A	ATATTATA others(475): Show ATATTATATATACATTATATATATTATATATTATATATACATTATATATA TTATATATTATATATACATTATATATATTATATATTATATATACATTATA TATATTATATATTATATATACATTATATATATTATATATTATATATACAT TATATATATTATATATTATATATACATTATATATATTATATATTATATAT ACATTACATATATTATATATTATATATACATTACATATATTATATATTAT ATATACATTACATATATTATATATTATATATACATTATATATATTATATA TTATATATACATTATATATATTATATATTATATATACATTATATATATTA TATATTATATATACATTATATATATTATATATTATATATACATTATATAT ATTATATATTATATATACATTATATATATTATATATTATATATACATTAT ATATATTATATATTATATATACATTATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG06807.hp1 HG03195.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0179 a0001c0001t0003g0180 a0001c0001t0001g0179 a0001c0001t0003g0180	2	150	0.0133	482	c.102 others(501): Show c.102+26610_102+26611insATATATATAATGTATATATAATATAT AATATATATAATGTATATATAATATATAATATATATAATGTATATATAAT ATATAATATATATAATGTATATATAATATATAATATATATAATGTATATA TAATATATAATATATATAATGTATATATAATATATAATATATATAATGTA TATATAATATATAATATATATAATGTATATATAATATATAATATATGTAA TGTATATATAATATATAATATATGTAATGTATATATAATATATAATATAT GTAATGTATATATAATATATAATATATATAATGTATATATAATATATAAT ATATATAATGTATATATAATATATAATATATATAATGTATATATAATATA TAATATATATAATGTATATATAATATATAATATATATAATGTATATATAA TATATAATATATATAATGTATATATAATATATAATATATATAATGTATAT ATAATA	TOX	ENSG00000198846.6	transcript	ENST00000361421.2	protein_coding	1/8			chr8	TogoVar
TOX_chr8_58800412_59124147	59092275	A A	ATATTATA others(475): Show ATATTATATATACATTATATATATTATATATTATATATACATTATATATA TTATATATTATATATACATTATATATATTATATATTATATATACATTATA TATATTATATATTATATATACATTATATATATTATATATTATATATACAT TATATATATTATATATTATATATACATTATATATATTATATATTATATAT ACATTATATATATTATATATTATATATACATTATATATATTATATATTAT ATATACATTATATATATTGTATATTATATATACATTATATATATTATATA TTATATATACATTATATATATTATATATTATATATACATTATATATATTA TATATTATATATACATTATATATATTATATATTATATATACATTATATAT ATTATATATTATATATACATTATATATATTATATATTATATATACATTAT ATATATTATATATTATATATACATTATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0074 a0001c0003t0003g0074	1	149	0.0067	482	c.102 others(501): Show c.102+26610_102+26611insATATATATAATGTATATATAATATAT AATATATATAATGTATATATAATATATAATATATATAATGTATATATAAT ATATAATATATATAATGTATATATAATATATAATATATATAATGTATATA TAATATATAATATATATAATGTATATATAATATATAATATATATAATGTA TATATAATATATAATATATATAATGTATATATAATATACAATATATATAA TGTATATATAATATATAATATATATAATGTATATATAATATATAATATAT ATAATGTATATATAATATATAATATATATAATGTATATATAATATATAAT ATATATAATGTATATATAATATATAATATATATAATGTATATATAATATA TAATATATATAATGTATATATAATATATAATATATATAATGTATATATAA TATATAATATATATAATGTATATATAATATATAATATATATAATGTATAT ATAATA	TOX	ENSG00000198846.6	transcript	ENST00000361421.2	protein_coding	1/8			chr8	TogoVar
TP53AIP1_chr11_128930370_128947871	128930711	A A	AGGGTTAG others(475): Show AGGGTTAGGGAGGCCAGGGGTCAGGGAGGCTGGGGTTAGGGAGGCTGGGG TTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTCAGGGAGGCCGGGGTTAG GGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGG CCAGGGGTTAGGGAGGCCAGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGG GGTTAGGGAGGCCGGGGTTAGGGAGCCCGGGGTTAGGGAGGCCGGGGTTA GGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGCCCGGGGTTAGGGAG GCCAGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGTTAGGGAGGCCAG GGTTAGGGAGGCCAGGGGTCAGGGAGGCTGGGGTTAGGGAGGCCGGGGTT AGGGAGCCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGTAGGGAG GCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	335	0.0030	482	c.48 others(493): Show c.4879_*4880insGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCC TCCCTACCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGGCTCCCTA ACCCCGGCCTCCCTAACCCCAGCCTCCCTGACCCCTGGCCTCCCTAACCC TGGCCTCCCTAACCCCAGCCTCCCTACCCTGGCCTCCCTAACCCCTGGCC TCCCTAACCCCGGGCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCT AACCCCGGCCTCCCTAACCCCGGGCTCCCTAACCCCGGCCTCCCTAACCC CAGCCTCCCTAACCCCGGCCTCCCTAACCCTGGCCTCCCTAACCCCTGGC CTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCC TAACCCCGGCCTCCCTGACCCCTGGCCTCCCTAACCCCGGCCTCCCTAAC CCCAGCCTCCCTAACCCCAGCCTCCCTGACCCCTGGCCTCCCTAACCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4658		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273429	T T	TTATATAT others(475): Show TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTAT ATATATATTATATATATATAAAAATTATATATATATTATATATATAAAAA TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATAATATATATATATAAAAATTATATATATATATTATATATATATAAAAA TTATATATATATATTATATATATATAAAAATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp1 NA19082.hp2 NA18943.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	116	0.0172	482	c.29 others(493): Show c.2994_*2995insTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATATTATATATATAT AAAAATTATATATATATTATATATATATAAAAATTATATATATATTATAT ATATATAAAAATTATATATATATTATATATATATAAAAATTATATATATA TTATATATATAAAAATTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATATTATATATATAT AAAAATTATATATATATAATATATATATATAAAAATTATATATATATATT ATATATATATAAAAATTATATATATATATTATATATATATAAAAATTA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2316		chr11	TogoVar
TRIML1_chr4_188134441_188152743	188152676	A A	AGAAGGGG others(475): Show AGAAGGGGAGTGAGAGAGAGGGTGAGAAGGGAAGTGAGAGTGGGGGTTGA GAAGGGGAAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGGGGGGGAGTTGG TGGGGGGGGGGGGTTGGGGGGTGAGAAGGGAGTGAGAGTGGGGGTTGAAA GGGGTGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTTGAGAAG GGGAGTGAGAGTGGGGGTTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGG GGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGG AGTGAGAGTGGGGGTGAGAAGGGAAGTGAGAGTGGGGGTGAGAAGGGGAG TGGAGGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGAGT GAGAGTGGGGATGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGA GAGTGGGGTGAGAAGGGGAGTGAGAGTGGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	223	0.0045	482	c.53 others(493): Show c.5304_*5305insGAAGGGGAGTGAGAGAGAGGGTGAGAAGGGAAGT GAGAGTGGGGGTTGAGAAGGGGAAGTGAGAGTGGGGGTGAGAAGGGGAGT GAGGGGGGGAGTTGGTGGGGGGGGGGGGTTGGGGGGTGAGAAGGGAGTGA GAGTGGGGGTTGAAAGGGGTGTGAGAGTGGGGGTGAGAAGGGGAGTGAGA GTGGGGGTTGAGAAGGGGAGTGAGAGTGGGGGTTGAGAAGGGGAGTGAGA GTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGT GGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGAAGTGAGAGTGG GGGTGAGAAGGGGAGTGGAGGAGAGGGGTTGAGAAGGGGAGTGAGAGTGG GGGTGAGAAGGGAGTGAGAGTGGGGATGAGAAGGGGAGTGAGAGTGGGGG TGAGAAGGGGAGTGAGAGTGGGGTGAGAAGGGGAGTGAGAGTGGGGGT	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		4934		chr4	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(475): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCC TTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTC CTCCCTTCCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCC CTTCTTCCCTCCCCCCTTCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCC CTTCCCCCTTCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCC TCCTCCCTTCCCCCTTCCCCCTCCTCCCTTCCCCCTTCCCCCTCCTCCCT TCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCC TTCCACCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCT CTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0002 a0002c0010t0002	a0002c0010t0002g0077 a0002c0010t0002g0077	1	8	0.1250	482	c.657 others(497): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCGTCCCC CTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTT CTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTTCCTCCCTCCCCCC TTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTC CCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCTTCCTCCCTCCCC CTTCTTCCCTCCTCCCTTCCCCCTTCCCCTTCCTTCTTCCTCCCTTCCTC TTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCTCCTCCCTTCCCCC TTCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCCCC TTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTACCCCCTTCCTCTCTTCC TCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTCTC CC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TTLL8_chr22_50013575_50063298	50028634	C C	CCTCGTAA others(475): Show CCTCGTAAAGACCCCCATCACACCGTCCTGAAGACCCCACACACACTCGT AAAGACCCCATCACACCGTCCTGAAGACCCCACACACACTCGTAAAGACC CCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCAC ACCATCCTGAAGACCCCACACACACTCGTAAAGACCCCCATCACACCGTC CTGAAGACCCCACACACACTCGTAAAGACCCCCGTCATACCATCCTGAAG ACCCCACACACCCTCGTAAAGACCCCCATCATACCATCCTAAAGACCCCC ACACACACTCGTAAAGACCCCATCACACCGTCCTGAAGACCCACACATAC CCTCGTAAAGACCCCATCACACCATCCTAAAGACCCCCACACACACTCGT AAAGACCCCATCACACCATCCTGAAGACCCCCACACACACTCGTAAAGAC CCCCATCACACCGTCCTGAAGACCCCACACACA	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0093 a0003c0003t0001g0093	1	191	0.0052	482	c.225 others(501): Show c.2251+1795_2251+1796insTGTGTGTGGGGTCTTCAGGACGGTGT GATGGGGGTCTTTACGAGTGTGTGTGGGGGTCTTCAGGATGGTGTGATGG GGTCTTTACGAGTGTGTGTGGGGGTCTTTAGGATGGTGTGATGGGGTCTT TACGAGGGTATGTGTGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAG TGTGTGTGGGGGTCTTTAGGATGGTATGATGGGGGTCTTTACGAGGGTGT GTGGGGTCTTCAGGATGGTATGACGGGGGTCTTTACGAGTGTGTGTGGGG TCTTCAGGACGGTGTGATGGGGGTCTTTACGAGTGTGTGTGGGGTCTTCA GGATGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGT GTGATGGGGTCTTTACGAGTGTGTGTGGGGTCTTCAGGACGGTGTGATGG GGTCTTTACGAGTGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGGTCTT TACGAG	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TUBGCP5_chr15_22994177_23044569	23042697	T T	TGGAGGGA others(475): Show TGGAGGGACATCATAACCTCACCTCGCCAGAGGTGCTGTGGGGGGGTATT ATAACCCCACCTGGCCAGAGGTGCTGGGGGAGTCATAATCCCACCTGGCC AGAGGTGCTGTGGGGCCATCATAACCCCAGCTGGCCGGAGGTGCCGGGGG GCGGGGGGAACTTCATAACCCCACCTGGCCAGAGGTGCTGGGGGTGACTT CATAAATGTCACCTGGCCAGAGGTGCTACGGGGGATTTCATAACCCCACC TGGCCAGAGGTGCTGGGGGGACATCATAACCTCACCTCGCCAGAGGTGCT AGGGGATATCATAATCCCACCTGGCCAGAGATGCTGGGGGGCCATCATAA CTCCACCTGGCCAGAGGTGCTGTGGGGCCATCATAACCCCACCTGGCCAG AGGTGCTGGGGGTGACTTCATAAATGTCACCTGGCCAGAGGTGCTGGGGG GGATTTCATAACCCCACCTAGCCAGGGGTGCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00558.hp1 HG00621.hp1 others(30): Show HG00408.hp1 HG00558.hp1 HG00621.hp1 HG00621.hp2 HG00738.hp2 HG01081.hp1 HG01099.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02083.hp1 HG02129.hp2 HG02135.hp2 HG02165.hp1 NA18612.hp2 NA18747.hp1 NA18952.hp2 NA18959.hp2 NA18963.hp2 NA18964.hp1 NA18967.hp2 NA18974.hp2 NA18979.hp1 NA18981.hp2 NA18983.hp2 NA18987.hp2 NA18989.hp2 NA18994.hp2 NA19005.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0010 a0001c0001t0001g0155 a0001c0001t0001g0185 others(27): Show a0001c0001t0001g0010 a0001c0001t0001g0155 a0001c0001t0001g0185 a0001c0001t0001g0247 a0001c0002t0002g0003 a0001c0002t0002g0008 a0001c0002t0002g0009 a0001c0002t0002g0029 a0001c0002t0002g0075 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0086 a0001c0002t0002g0088 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0096 a0001c0002t0002g0104 a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0112 a0001c0002t0002g0114 a0001c0002t0002g0115 a0001c0002t0002g0117 a0001c0002t0002g0119 a0001c0002t0002g0120 a0001c0002t0002g0123 a0001c0002t0002g0128	33	282	0.1170	482	c.-31 others(493): Show c.-3155_-3154insCAGCACCCCTGGCTAGGTGGGGTTATGAAATCCC CCCCAGCACCTCTGGCCAGGTGACATTTATGAAGTCACCCCCAGCACCTC TGGCCAGGTGGGGTTATGATGGCCCCACAGCACCTCTGGCCAGGTGGAGT TATGATGGCCCCCCAGCATCTCTGGCCAGGTGGGATTATGATATCCCCTA GCACCTCTGGCGAGGTGAGGTTATGATGTCCCCCCAGCACCTCTGGCCAG GTGGGGTTATGAAATCCCCCGTAGCACCTCTGGCCAGGTGACATTTATGA AGTCACCCCCAGCACCTCTGGCCAGGTGGGGTTATGAAGTTCCCCCCGCC CCCCGGCACCTCCGGCCAGCTGGGGTTATGATGGCCCCACAGCACCTCTG GCCAGGTGGGATTATGACTCCCCCAGCACCTCTGGCCAGGTGGGGTTATA ATACCCCCCCACAGCACCTCTGGCGAGGTGAGGTTATGATGTCCCTCC	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding		3129		chr15	TogoVar
TUBGCP5_chr15_22994177_23044569	23042697	T T	TGGAGGGA others(475): Show TGGAGGGACATCATAACCTCACCTCGCCAGAGGTGCTGTGGGGGGGTATT ATAACCCCACCTGGCCAGAGGTGCTGGGGGTGTCATAATCCCACCTGGCC AGAGGTGCTGTGGGGCCATCATAACCCCAGCTGGCCGGAGGTGCCGGGGG GCGGGGGGAACTTCATAACCCCACCTGGCCAGAGGTGCTGGGGGTGACTT CATAAATGTCACCTGGCCAGAGGTGCTACGGGGGATTTCATAACCCCACC TGGCCAGAGGTGCTGGGGGGACATCATAACCTCACCTCGCCAGAGGTGCT AGGGGATATCATAATCCCACCTGGCCAGAGATGCTGGGGGGCCATCATAA CTCCACCTGGCCAGAGGTGCTGTGGGGCCATCATAACCCCACCTGGCCAG AGGTGCTGGGGGTGACTTCATAAATGTCACCTGGCCAGAGGTGCTGGGGG GGATTTCATAACCCCACCTAGCCAGGGGTGCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0100 a0001c0002t0002g0100	1	250	0.0040	482	c.-31 others(493): Show c.-3155_-3154insCAGCACCCCTGGCTAGGTGGGGTTATGAAATCCC CCCCAGCACCTCTGGCCAGGTGACATTTATGAAGTCACCCCCAGCACCTC TGGCCAGGTGGGGTTATGATGGCCCCACAGCACCTCTGGCCAGGTGGAGT TATGATGGCCCCCCAGCATCTCTGGCCAGGTGGGATTATGATATCCCCTA GCACCTCTGGCGAGGTGAGGTTATGATGTCCCCCCAGCACCTCTGGCCAG GTGGGGTTATGAAATCCCCCGTAGCACCTCTGGCCAGGTGACATTTATGA AGTCACCCCCAGCACCTCTGGCCAGGTGGGGTTATGAAGTTCCCCCCGCC CCCCGGCACCTCCGGCCAGCTGGGGTTATGATGGCCCCACAGCACCTCTG GCCAGGTGGGATTATGACACCCCCAGCACCTCTGGCCAGGTGGGGTTATA ATACCCCCCCACAGCACCTCTGGCGAGGTGAGGTTATGATGTCCCTCC	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding		3129		chr15	TogoVar
ULK1_chr12_131889622_131928150	131918784	T T	TGGGGGTG others(475): Show TGGGGGTGTCGGGGGTGTGGGGTGTAGAGTGTGGGGTGTAGTGTGTGGGG TGTCAGGTGTGTGGGGTGTCGGGTGTGGGGTGTAGGGTATGGGGTGTCGG GTGTGTGGGGTGTCGGGTGTGTGGGGTATAGGGTGTGTGGGGTATAGGGT GTGTGGGGGTGTCGGGTGTGGGGTGTCGGGGGTGTGGGGTGTAGAGTGTG GGGTGTAGTGTGTGGGGTGTCAGGTGTGTGGGGTGTCGGGTGTGGGGGTG TAGGGTGTGTGGGGTATAGGGTGTGTGGGGTGTCGGGTGTGGGGTGTCGG GGGTGTGGGGTGTAGAGTGTGGGGTGTAGTGTGGGGTGTCAGGTGTGTGG GGTGTCGGGTGTGGGGTGTCAGGTGTGTGGGGTGTAGGGTGTGGGGTGTA GGGTGTGTGGTGTAGGGTATGGGGTGTCGGGTGTGTGGGGTGTCGGGTGT GTGGGGTATAGGGTGTGTGGGGTGTTGGGTGTG	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0179 a0002c0004t0004g0179	1	341	0.0029	482	c.251 others(499): Show c.2511+107_2511+108insGTGTCGGGGGTGTGGGGTGTAGAGTGTG GGGTGTAGTGTGTGGGGTGTCAGGTGTGTGGGGTGTCGGGTGTGGGGTGT AGGGTATGGGGTGTCGGGTGTGTGGGGTGTCGGGTGTGTGGGGTATAGGG TGTGTGGGGTATAGGGTGTGTGGGGGTGTCGGGTGTGGGGTGTCGGGGGT GTGGGGTGTAGAGTGTGGGGTGTAGTGTGTGGGGTGTCAGGTGTGTGGGG TGTCGGGTGTGGGGGTGTAGGGTGTGTGGGGTATAGGGTGTGTGGGGTGT CGGGTGTGGGGTGTCGGGGGTGTGGGGTGTAGAGTGTGGGGTGTAGTGTG GGGTGTCAGGTGTGTGGGGTGTCGGGTGTGGGGTGTCAGGTGTGTGGGGT GTAGGGTGTGGGGTGTAGGGTGTGTGGTGTAGGGTATGGGGTGTCGGGTG TGTGGGGTGTCGGGTGTGTGGGGTATAGGGTGTGTGGGGTGTTGGGTGTG GGGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	23/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(475): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCTCCTCCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCT CTCCCCTCCTCTCCCCTCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCC CTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCTCTCC CCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCCTCCCCCTCTCCTCTC CCCCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCCTCTCCCCCCTCCCCC TCTCCTCCCCCTCCCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCTCCCC CTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCTCCCCTCCCCCTCTCCCCC TCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0005 a0007c0008t0005	a0007c0008t0005g0089 a0007c0008t0005g0089	1	33	0.0303	482	c.53- others(495): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCTCCTCCCCCTCCCCTCTCCTCCTCTCCCCTCT CCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCCTCTCCCCCTCCTCTCCC CTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTC CTCTCCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCCTCCCCCTCT CCTCTCCCCCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCCTCTCCCCCC TCCCCCTCTCCTCCCCCTCCCCCTCTCCCTCTCCCCCTCCCCCTCCCCCT CTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCTCCCCTCCCCCTC TCCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTCCCTCTCCCCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(475): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCTCCT CCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCC TCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTC TCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCCTCCCCCTCTCCTC TCCCCCTCCTCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCC CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCT CCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCCTCTCCCCC TCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCC TCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0117 a0002c0002t0001g0117	1	33	0.0303	482	c.53- others(495): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCTCCTCCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCT CTCCCCTCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTC CCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCCTCCCCCT CTCCTCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCC CTCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCC CCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCCTC TCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTC TCCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTCCCTCTCCCCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(475): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCTCCTCCCCCTCCCCT CTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCC TCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCC TCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCCTCCCCCTCTCC TCTCCCCCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCC CCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCC TCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCC TCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA19240.hp2 NA18960.hp2 NA19240.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0013 a0004c0004t0004 a0001c0001t0013 a0004c0004t0004	a0001c0001t0013g0119 a0004c0004t0004g0128 a0001c0001t0013g0119 a0004c0004t0004g0128	2	34	0.0588	482	c.53- others(495): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCTCCTCCCCC TCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCCTCCCC TCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCC TCCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCCTCCCC CTCTCCTCTCCCCCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCCTCTCC CCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTC TCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTC TCCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTCCCTCTCCCCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
ZC3H12B_chrX_65029826_65512887	65450478	T T	TATATATG others(475): Show TATATATGTATATATGTACATATGTATATATATGTATATATGTACATATG TATATATATGTATATATGTATATATATACATATGTATATATGTATATATA TACATATGTATACATGTATATATGTATATATATACATGTATACATATGTA TACATGTATATATACACATATGTATACATGTATATATGTATATATATACA TGTATACATATGTATATATGTATACATATGTATATATGTATATATGTATA AATATACATATGTATATATATGTATATATGTATACATATGTATATATACA TATGTATATATATGTATATATGTATACATATGTATATATACATATGTATA TATATGTATATATGCATATATACATATGTATATATATGTATATATGTATA TATATGTATATACATATGTATATATATGTATATATGCATATATACATATG TATATATGCATATATATACATATGTATATATGC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0005 a0001c0001t0014g0005	1	147	0.0068	482	c.-15 others(503): Show c.-156-38164_-156-38163insATGTATATATGTACATATGTATAT ATATGTATATATGTACATATGTATATATATGTATATATGTATATATATAC ATATGTATATATGTATATATATACATATGTATACATGTATATATGTATAT ATATACATGTATACATATGTATACATGTATATATACACATATGTATACAT GTATATATGTATATATATACATGTATACATATGTATATATGTATACATAT GTATATATGTATATATGTATAAATATACATATGTATATATATGTATATAT GTATACATATGTATATATACATATGTATATATATGTATATATGTATACAT ATGTATATATACATATGTATATATATGTATATATGCATATATACATATGT ATATATATGTATATATGTATATATATGTATATACATATGTATATATATGT ATATATGCATATATACATATGTATATATGCATATATATACATATGTATAT ATGCATAT	ZC3H12B	ENSG00000102053.13	transcript	ENST00000338957.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
ACTRT3_chr3_169761921_169774561	169770602	A A	AATATAAA others(476): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATAAATATAT AAAAATTTATATTTATATATCATAAATATAAATATATAAAAATTTATATT TATATATCATAAATATATAAAAATTTATATTTATATATCATAAATAAAAA TTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATA TAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCA TATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATAT ATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATAT ATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTT ATATATCATATATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	224	0.0045	483	c.-10 others(494): Show c.-1083_-1082insGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATA TGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTA TATGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTT TATATATGATATATAAATATAAATTTTTATATATGATATATAAATATAAA TTTTTATTTATGATATATAAATATAAATTTTTATATATTTATGATATATA AATATAAATTTTTATATATTTATATTTATGATATATAAATATAAATTTTT ATATATTTATATTTATGATATATAAATATAAATTTTTATATATTTATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1042		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169771019	A A	AATATATT others(476): Show AATATATTATTAAATTATATGAATATAAATTTTTATATATTTATTATATA TAAACATAAATTTTTATATATTTATTATATAAACATAAATTTTATATATT TATTATATATAAAACATAAATTTTTATATATTTATTATATATAAACATAA ATTTTTTATATATTTATTATATATAAACATAAATTTTTATATTATTTATT ATATATAAACATAAATTTTTATATTTATGATATATAAACATAAATTTTTA TATTTATGATATATAAATATAAATTTTTTATATATTTATGATATATAAAT ATAAATTTTTATATATTTATGATATATTAAATATAAATTTTTATATATGA TATATAAATATAAATTTTTATATATCATATATAAAAATTTATATTTATAT ATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTT ATATATCATATATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	404	0.0025	483	c.-15 others(494): Show c.-1500_-1499insGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATAAAAATTTATATTTATATA TCATATATAAAAATTTATATTTAATATATCATAAATATATAAAAATTTAT ATTTATATATCATAAATATATAAAAAATTTATATTTATATATCATAAATA TAAAAATTTATGTTTATATATCATAAATATAAAAATTTATGTTTATATAT AATAAATAATATAAAAATTTATGTTTATATATAATAAATATATAAAAAAT TTATGTTTATATATAATAAATATATAAAAATTTATGTTTTATATATAATA AATATATAAAATTTATGTTTATATAATAAATATATAAAAATTTATGTTTA TATATAATAAATATATAAAAATTTATATTCATATAATTTAATAATATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1459		chr3	TogoVar
ADARB2_chr10_1172313_1742525	1327041	C C	CCAGCGCC others(476): Show CCAGCGCCTCCCCACTGCACAGCGCCTCACTGCACAGCGCCTCCCCACTG CCCAGCGCCTCCCCACGGCACAGCGCCTCCCCACTGCCCAGCGCCTCCCC ACTGCCCAGCGCCTCCCCACTGCCCAGCGCCTCCCCACGGCCCAGCGCCT CCCCACGGCACAGCGCCTCCCCACTGCCCAGCGCCTCCCCACTGCCCAGC GCCTCCCCACGGCACAGCGCCTCCCCACGGCACAGCGCCTCCCCACGGCC CAGCGCCTCCCCACTGCACAGCGCCTCCCCACTGCCCAGCGCCTCCCCAC GGCCCAGCGCCTCCCCACTGCCCAGCGCCTCCCCACTGCCCAGCGCCTCC CCACTGCCCAGCGCCTCCCCACGGCACAGCGCCTCCCCACTGCCCAGCGC CTCCCCACGGCACAGCGCCTCCCCACGGCACAGCGCCTCCCCACTGCCCA GCGCCTCCCCACGGCCCAGCGCCTCCCCACGGCA	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0024 a0001c0001t0012g0024	1	67	0.0149	483	c.107 others(504): Show c.1077+35986_1077+35987insTGCCGTGGGGAGGCGCTGGGCCGT GGGGAGGCGCTGGGCAGTGGGGAGGCGCTGTGCCGTGGGGAGGCGCTGTG CCGTGGGGAGGCGCTGGGCAGTGGGGAGGCGCTGTGCCGTGGGGAGGCGC TGGGCAGTGGGGAGGCGCTGGGCAGTGGGGAGGCGCTGGGCAGTGGGGAG GCGCTGGGCCGTGGGGAGGCGCTGGGCAGTGGGGAGGCGCTGTGCAGTGG GGAGGCGCTGGGCCGTGGGGAGGCGCTGTGCCGTGGGGAGGCGCTGTGCC GTGGGGAGGCGCTGGGCAGTGGGGAGGCGCTGGGCAGTGGGGAGGCGCTG TGCCGTGGGGAGGCGCTGGGCCGTGGGGAGGCGCTGGGCAGTGGGGAGGC GCTGGGCAGTGGGGAGGCGCTGGGCAGTGGGGAGGCGCTGTGCCGTGGGG AGGCGCTGGGCAGTGGGGAGGCGCTGTGCAGTGAGGCGCTGTGCAGTGGG GAGGCGCTG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	3/9			chr10	TogoVar
ADPRHL1_chr13_113394611_113458488	113419038	C C	CCCCTTCC others(476): Show CCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTT CCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTC CCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCT CCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCC CCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCT TCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCC CTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCT CCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCT	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0029 a0029	a0029c0022 a0029c0022	a0029c0022t0001 a0029c0022t0001	a0029c0022t0001g0181 a0029c0022t0001g0181	1	206	0.0049	483	c.106 others(502): Show c.1061+3787_1061+3788insAGGGGAAGGGGAAGAAAGGAAGGAAG GGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAG GGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAG GGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAA AGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGA AGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGG AGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAG GGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGG AGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAG GAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAG GGAAGGG	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7			chr13	TogoVar
AGMO_chr7_15195317_15567015	15529638	A A	ATATAGTA others(476): Show ATATAGTATATATATTCTATATACAGAATATATATAGTATATATATTCTA TATACAGAATATATATAGTATATATATTCTATATACAGAATATATATAGT ATATATATTCTATATACAGAATATATATAGTATATATATTCTATATACAG AATATATATAGTATATATATTCTATATACAGAATATATATACTATATATA TTCTATATACAGAATATATATAGTATATATATTCTATATACAGAATATAT ATACTATATATATTCTGTATACAGAATATATATACTATATATATTCTGTA TACAGAATATATATACTATATATATTCTATATATAGAATATATATAGTAT ATATATTCTATATACAGAATATATATATAGTATATATATTCTGTATACAG AATATATATAGTATATATATTCTGTATATAGAATATATATAGTATATATA TTCTGTATATAGAATATATATACTATATTAATTC	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02698.hp1 HG02300.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0196 a0001c0001t0002g0197 a0001c0001t0001g0196 a0001c0001t0002g0197	2	58	0.0345	483	c.409 others(502): Show c.409+15133_409+15134insGAATTAATATAGTATATATATTCTAT ATACAGAATATATATACTATATATATTCTATATACAGAATATATATACTA TATATATTCTGTATACAGAATATATATACTATATATATATTCTGTATATA GAATATATATACTATATATATTCTATATATAGAATATATATAGTATATAT ATTCTGTATACAGAATATATATAGTATATATATTCTGTATACAGAATATA TATAGTATATATATTCTGTATATAGAATATATATACTATATATATTCTGT ATATAGAATATATATAGTATATATATTCTGTATATAGAATATATATACTA TATATATTCTGTATATAGAATATATATACTATATATATTCTGTATATAGA ATATATATACTATATATATTCTGTATATAGAATATATATACTATATATAT TCTGTATATAGAATATATATACTATATATATTCTGTATATAGAATATATA TACTATA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15529638	A A	ATATAGTA others(476): Show ATATAGTATATATATTCTATATACAGAATATATATAGTATATATATTCTA TATACAGAATATATATAGTATATATATTCTATATACAGAATATATATAGT ATATATATTCTATATACAGAATATATATAGTATATATATTCTATATACAG AATATATATAGTATATATATTCTATATACAGAATATATATACTATATATA TTCTATATACAGAATATATATAGTATATATATTCTATATACAGAATATAT ATACTATATATATTCTGTATACAGAATATATATACTATATATATTCTGTA TACAGAATATATATACTATATATATTCTATATATAGAATATATATAGTAT ATATATTCTGTATACAGAATATATATATAGTATATATATTCTGTATACAG AATATATATAGTATATATATTCTGTATATAGAATATATATAGTATATATA TTCTGTATATAGAATATATATACTATATTAATTC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0163 a0001c0003t0001g0163	1	57	0.0175	483	c.409 others(502): Show c.409+15133_409+15134insGAATTAATATAGTATATATATTCTAT ATACAGAATATATATACTATATATATTCTATATACAGAATATATATACTA TATATATTCTGTATACAGAATATATATACTATATATATATTCTGTATACA GAATATATATACTATATATATTCTATATATAGAATATATATAGTATATAT ATTCTGTATACAGAATATATATAGTATATATATTCTGTATACAGAATATA TATAGTATATATATTCTGTATATAGAATATATATACTATATATATTCTGT ATATAGAATATATATAGTATATATATTCTGTATATAGAATATATATACTA TATATATTCTGTATATAGAATATATATACTATATATATTCTGTATATAGA ATATATATACTATATATATTCTGTATATAGAATATATATACTATATATAT TCTGTATATAGAATATATATACTATATATATTCTGTATATAGAATATATA TACTATA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AK3_chr9_4704556_4746202	4714097	C C	CACACCTC others(476): Show CACACCTCCACATATACACACCTACACATACGCCTACACATATATGCCTA CACATATACGCCTACACATATACGCCTACACATATACGCCTACACATATA CACCTCCACATATACACACCTCCACATATACACACCTCCACATATACACA CCTCCACATATATGCCTACACATATACGCCTACACATATACACACCTCCA CATATACACACCTCCACAACTCCACATATACACACCTCCACATATACACA CCTACACATATACGCCTACACATATACGCCTACACATATACGCCTACACA TATACACACCTCCACATATACACACCTCCACATATACGCCTACACATATA CGCCTACACATATACACACCTCCACATATACACACCTCCACATATACGCC TACACATATACGCCTACACATATACGCCTACACATATACGCCTACACATA TACACACCTCCACATATACACACCTCCACATAAT	intron_variant intron_variant	MODIFIER	HG02165.hp2 NA18612.hp1 NA18944.hp1 others(4): Show HG02165.hp2 NA18612.hp1 NA18944.hp1 NA18982.hp2 NA18985.hp2 NA19076.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0061 a0001c0001t0003g0137 a0001c0001t0003g0244 others(4): Show a0001c0001t0003g0061 a0001c0001t0003g0137 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0247 a0001c0001t0003g0263 a0001c0001t0003g0334	7	451	0.0155	483	c.564 others(500): Show c.564-1002_564-1001insATTATGTGGAGGTGTGTATATGTGGAGG TGTGTATATGTGTAGGCGTATATGTGTAGGCGTATATGTGTAGGCGTATA TGTGTAGGCGTATATGTGGAGGTGTGTATATGTGGAGGTGTGTATATGTG TAGGCGTATATGTGTAGGCGTATATGTGGAGGTGTGTATATGTGGAGGTG TGTATATGTGTAGGCGTATATGTGTAGGCGTATATGTGTAGGCGTATATG TGTAGGTGTGTATATGTGGAGGTGTGTATATGTGGAGTTGTGGAGGTGTG TATATGTGGAGGTGTGTATATGTGTAGGCGTATATGTGTAGGCATATATG TGGAGGTGTGTATATGTGGAGGTGTGTATATGTGGAGGTGTGTATATGTG GAGGTGTATATGTGTAGGCGTATATGTGTAGGCGTATATGTGTAGGCGTA TATGTGTAGGCATATATGTGTAGGCGTATGTGTAGGTGTGTATATGTGGA GGTGT	AK3	ENSG00000147853.17	transcript	ENST00000381809.8	protein_coding	4/4			chr9	TogoVar
ANKLE2_chr12_132720503_132766832	132729624	A A	AGGAGGAG others(476): Show AGGAGGAGGTGAGGGGAGTGGAAGGGTGGGAGGGGAGGGGGAGGTGAGGG GAGGGGGAGGTGAGGGGAGTGGACGGGTGGGAGGGGGAGGGGGAGGGGAG GGTGGGAGGGGGAGGGGAGGGGAAGGTGAGGGGAGGAGGAGGAGAGGGGA GTGGATGGGTGGGAGGGGAGGGGGAGGGGAGGGGAGTCGACGAGTGGGAG GGGAGGGGAAGGTGAGGGGAGGGGGAGGGGAGGGGAGGGGGGGTGGGAGG GGAGGGGGAGGGTGGGAGGGGAGGGGGAGGGGAGGATGGGAGGGGAGGGG GAGGGGAGGATGGGAGGGGAGGGGGAGGGGAGGGGAAGGTGAGAGAAGGG GGAGGGGAAGGCGAGGGGAAGGCGAGGGGAGGGGGAGGGGAAGGCGAGGG GAGGGGGAGGGGGAGGCGAGGGGAGGGGGAGGCGAGGGGAGGGGGAGGGG AGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0302 a0002c0002t0001g0302	1	345	0.0029	483	c.248 others(498): Show c.2483+54_2483+55insCTCCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCTCCCCTCCCCCTCCCCTCGCCTCCCCCTCCCCTCGCCTCCCCCTCCC CCTCCCCTCGCCTTCCCCTCCCCCTCCCCTCGCCTTCCCCTCGCCTTCCC CTCCCCCTTCTCTCACCTTCCCCTCCCCTCCCCCTCCCCTCCCATCCTCC CCTCCCCCTCCCCTCCCATCCTCCCCTCCCCCTCCCCTCCCACCCTCCCC CTCCCCTCCCACCCCCCCTCCCCTCCCCTCCCCCTCCCCTCACCTTCCCC TCCCCTCCCACTCGTCGACTCCCCTCCCCTCCCCCTCCCCTCCCACCCAT CCACTCCCCTCTCCTCCTCCTCCCCTCACCTTCCCCTCCCCTCCCCCTCC CACCCTCCCCTCCCCCTCCCCCTCCCACCCGTCCACTCCCCTCACCTCCC CCTCCCCTCACCTCCCCCTCCCCTCCCACCCTTCCACTCCCCTCACCTCC TCC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132759203	C C	CGCTGCGG others(476): Show CGCTGCGGAGTGGCATCCCGGGGCACCCACGTGGCAGAGTGGATCGCTGC GGAGTGGCATCCTGGGGCACCCACGTGGCAGAGTGGATCGCTGCGGAGTG GCACCCCAGGGCACCCACATGGCAGAGTGGATTGCGCAGTGTGGCACCCC GGGGCACCCACGTGGCAGAGAGGATCGCTGCAGAGTGGCACCCCAGGGCA CCCACGTGGCAGAGAGGATCGCTGCGGAGTGGCACCCCGGGGCACCCACG TGGCAGAGTGGATCGCTGCGGAGTGGCACCCCGGGGCACCCACGTGGCAG AGTGGATCGCTGCGGAGTGGCATCCCGGGGCACCCACGTGGCAGAGTGGA TCGCTGCGGAGTGGCATCCTGGGGCACCCACGTGGCAGAGTGGATCGCTG CGGAGTGGCACCCCAGGGCACCCACATGGCAGAGTGGATTGCGCAGTGTG GCACCCCGGGGCACCCACGTGGCAGAGAGGATCG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01243.hp1 others(2): Show HG01070.hp2 HG01071.hp1 HG01243.hp1 HG03490.hp1 HG03492.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0009 a0004c0006t0001g0152 a0004c0006t0001g0153 others(1): Show a0004c0006t0001g0009 a0004c0006t0001g0152 a0004c0006t0001g0153 a0004c0006t0001g0173	5	269	0.0186	483	c.181 others(500): Show c.181+2414_181+2415insCGATCCTCTCTGCCACGTGGGTGCCCCG GGGTGCCACACTGCGCAATCCACTCTGCCATGTGGGTGCCCTGGGGTGCC ACTCCGCAGCGATCCACTCTGCCACGTGGGTGCCCCAGGATGCCACTCCG CAGCGATCCACTCTGCCACGTGGGTGCCCCGGGATGCCACTCCGCAGCGA TCCACTCTGCCACGTGGGTGCCCCGGGGTGCCACTCCGCAGCGATCCACT CTGCCACGTGGGTGCCCCGGGGTGCCACTCCGCAGCGATCCTCTCTGCCA CGTGGGTGCCCTGGGGTGCCACTCTGCAGCGATCCTCTCTGCCACGTGGG TGCCCCGGGGTGCCACACTGCGCAATCCACTCTGCCATGTGGGTGCCCTG GGGTGCCACTCCGCAGCGATCCACTCTGCCACGTGGGTGCCCCAGGATGC CACTCCGCAGCGATCCACTCTGCCACGTGGGTGCCCCGGGATGCCACTCC GCAGC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	1/12			chr12	TogoVar
APBA2_chr15_28880974_29123315	29062995	G G	GGTCAGTG others(476): Show GGTCAGTGTCTGTATGGGTGGGGAGGGGAGTTGATCTGGTCAGTGTCTGT ATGGGTGGTGCGGGGAGTTGATCTCGGTCAGTGTCTGTATGGGTGGGGAG GGGAGTTGATCTGGTCAGTGTCTGTATGGGTGGTGCGGGGAGTTGATCTG GTCAGTGTCTGTATGGGTGGGGAGGGGAGTTGATCTGGGTCAGTGTCTGT ATGGGTAGGGAGGGAAGTTGATCTGGTCAGTGTCTGTATGGGTGGGGAGG GGAGTTGATCTGGTCAGTGTCTGTATGGGTGATGCGGGGAGTTGATCTGG TCAGTGTCTGTATGGGTGGTGCAGGGAGTTGATCTGGTCAGTGTCTGTAT GGGTGGGGAGGGGAGTTGATCTGGTCAGTGTCTGTATGGGTGGGGAGGGG AGTTGATCTGGTCAGTGTCTGTATGGGTGGGGAGGGGAGTTGATCTGGGT CAGTGTCTGTATGGGTTGGGAGGGAAGTTGATCT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03453.hp1 HG03486.hp1 HG03139.hp2 HG03453.hp1 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0015 a0002c0003t0013 a0002c0003t0038 a0002c0002t0015 a0002c0003t0013 a0002c0003t0038	a0002c0002t0015g0091 a0002c0003t0013g0081 a0002c0003t0038g0107 a0002c0002t0015g0091 a0002c0003t0013g0081 a0002c0003t0038g0107	3	201	0.0149	483	c.951 others(500): Show c.951+8161_951+8162insTCAGTGTCTGTATGGGTGGGGAGGGGAG TTGATCTGGTCAGTGTCTGTATGGGTGGTGCGGGGAGTTGATCTCGGTCA GTGTCTGTATGGGTGGGGAGGGGAGTTGATCTGGTCAGTGTCTGTATGGG TGGTGCGGGGAGTTGATCTGGTCAGTGTCTGTATGGGTGGGGAGGGGAGT TGATCTGGGTCAGTGTCTGTATGGGTAGGGAGGGAAGTTGATCTGGTCAG TGTCTGTATGGGTGGGGAGGGGAGTTGATCTGGTCAGTGTCTGTATGGGT GATGCGGGGAGTTGATCTGGTCAGTGTCTGTATGGGTGGTGCAGGGAGTT GATCTGGTCAGTGTCTGTATGGGTGGGGAGGGGAGTTGATCTGGTCAGTG TCTGTATGGGTGGGGAGGGGAGTTGATCTGGTCAGTGTCTGTATGGGTGG GGAGGGGAGTTGATCTGGGTCAGTGTCTGTATGGGTTGGGAGGGAAGTTG ATCTG	APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
ARHGAP39_chr8_144524179_144690846	144557367	G G	GCTGAACC others(476): Show GCTGAACCTTCATAGTATTCAGAGGCAAAGGCTGAACCTTCACGGTATTC AGAGGCAAAGGCTGAACCTTCACAGTATTCAGATGCAAAAGCCTGAACCT TCATAGTATTCAGAGGCAAAGGCTGAACCTTCATAGTATTCAGTGGCAAA AGGCTGAACCTTCGTAGTATTCAGAGGCAAAGGCTGAACCTTCGTAGTAT TCAGAGGCAAAGCCTGAACCTTCATAGTATTCAGAGGCAAAGGCTGAACC TTCATAGTATTCAGAGGCAAAGGCTGAACCTTCATAGTATTCAGTGGCAA AAGGCTGAACCTTCCTAGTATTCAGAGGCAAAGGCTGAACCTTCATAGTA TTCAGAGGCAAAGCCTGAACCTTCATAGTATTCAGAGGCAAAGGCTGAAC CTTCATAGTATTCAGAGGCAAAGCCTGAACCTTCATAGTATTCAGAGGCA AAGCCTGAACCTTCATAGTATTCAGAGGCAAAGC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0132 a0001c0001t0002g0132	1	6	0.1667	483	c.513 others(500): Show c.513-1725_513-1724insGCTTTGCCTCTGAATACTATGAAGGTTC AGGCTTTGCCTCTGAATACTATGAAGGTTCAGGCTTTGCCTCTGAATACT ATGAAGGTTCAGCCTTTGCCTCTGAATACTATGAAGGTTCAGGCTTTGCC TCTGAATACTATGAAGGTTCAGCCTTTGCCTCTGAATACTAGGAAGGTTC AGCCTTTTGCCACTGAATACTATGAAGGTTCAGCCTTTGCCTCTGAATAC TATGAAGGTTCAGCCTTTGCCTCTGAATACTATGAAGGTTCAGGCTTTGC CTCTGAATACTACGAAGGTTCAGCCTTTGCCTCTGAATACTACGAAGGTT CAGCCTTTTGCCACTGAATACTATGAAGGTTCAGCCTTTGCCTCTGAATA CTATGAAGGTTCAGGCTTTTGCATCTGAATACTGTGAAGGTTCAGCCTTT GCCTCTGAATACCGTGAAGGTTCAGCCTTTGCCTCTGAATACTATGAAGG TTCAG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	3/11			chr8	TogoVar
ARHGAP40_chr20_38596809_38655653	38653169	G G	GGTGGTGA others(476): Show GGTGGTGATGATGGTGGTGGTGGTGATGGAAATGATGATGATGTTAGTTG TGGTGTTGATGATGGTAATGATAATGATTGTGATGGTGGTGTTGGTGGTG GTGATAATGATGGTAGTTGGTGGTGATGATGGTGATGATGATTATGATGG TGTGTTGGTGGTGCTGGTGATGATAATGGTGGTGGTGGTGGTGGTGATGG AAATAATGATGATGTTAATTGTGGTGTTGATGATGGTAATGATAATGATT GTGATGGTGGTGTTGGTGGTGCTGGTGATGATAATGGTGGTGGTGGTGGT GATGGTGATGATGATTATGATGGTGGTGGTGGTGGTGGTGGTGCTGGTGA TAGTGGTGGTGGTGGTGCTGGTGATGATAATGGTGGTGGTGGTGATGATG GTGATGATGATTATGATGGTGGTGTTGGTGGTGCTGGTGATGATAATCAT GCTGGTGGTGGTGGCGTTGATGATGGTGACAGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0073 a0001c0002t0008g0073	1	42	0.0238	483	c.33 others(494): Show c.3321_*3322insGTGGTGATGATGGTGGTGGTGGTGATGGAAATGA TGATGATGTTAGTTGTGGTGTTGATGATGGTAATGATAATGATTGTGATG GTGGTGTTGGTGGTGGTGATAATGATGGTAGTTGGTGGTGATGATGGTGA TGATGATTATGATGGTGTGTTGGTGGTGCTGGTGATGATAATGGTGGTGG TGGTGGTGGTGATGGAAATAATGATGATGTTAATTGTGGTGTTGATGATG GTAATGATAATGATTGTGATGGTGGTGTTGGTGGTGCTGGTGATGATAAT GGTGGTGGTGGTGGTGATGGTGATGATGATTATGATGGTGGTGGTGGTGG TGGTGGTGCTGGTGATAGTGGTGGTGGTGGTGCTGGTGATGATAATGGTG GTGGTGGTGATGATGGTGATGATGATTATGATGGTGGTGTTGGTGGTGCT GGTGATGATAATCATGCTGGTGGTGGTGGCGTTGATGATGGTGACAGTA	ARHGAP40	ENSG00000124143.11	transcript	ENST00000373345.9	protein_coding		2517		chr20	TogoVar
BCL11A_chr2_60452194_60558654	60467461	G G	GGTGATGG others(476): Show GGTGATGGTGGTGGTGGTGGTAGTGATGGTGGTGGTAATGGTGGTGGTGG TGATGGTGGTGATGATGGTGATGGTACTGGTGGTGATGGTGATGGTGGTG GTGGTGGTGATGGTACTGGTGGTGATGGTACTGGTGGTGATGGTGGTGGT GGTAGTGATGGTGGTGGTAATGGTGGTGGTGGAGATGGTGGTGTTGATGG TGATGGTACTGGTGGTGATGGTACTGGTGGTGATGGTGATGGTGGTGGTG GTGGTGATGCTACTGGTGGTGATGGTACTGGTGGTGATGGTGGTGGTGGT AGTGATGGTGGTGGTAATGGTGGTGGTGGTGGTGGTGGTAGTGATGGTGG TGGTGGTGATGGTACTGGTGGTGATGGTGGTGGTGGTAGTGATGGTGGTG GTAATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTAGTGATGGTGGTGGT AATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02723.hp1 HG03486.hp1 HG02572.hp1 HG02723.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0021 a0001c0001t0001 a0001c0001t0008 a0001c0001t0021	a0001c0001t0001g0035 a0001c0001t0008g0114 a0001c0001t0021g0101 a0001c0001t0001g0035 a0001c0001t0008g0114 a0001c0001t0021g0101	3	143	0.0210	483	c.487 others(500): Show c.487+1270_487+1271insTACCACCACCACCACCATCACCACCACC ACCATTACCACCACCATCACTACCACCACCACCACCATCACCACCACCAC CATTACCACCACCATCACTACCACCACCACCATCACCACCAGTACCATCA CCACCACCACCATCACTACCACCACCACCACCACCACCATTACCACCACC ATCACTACCACCACCACCATCACCACCAGTACCATCACCACCAGTAGCAT CACCACCACCACCACCATCACCATCACCACCAGTACCATCACCACCAGTA CCATCACCATCAACACCACCATCTCCACCACCACCATTACCACCACCATC ACTACCACCACCACCATCACCACCAGTACCATCACCACCAGTACCATCAC CACCACCACCACCATCACCATCACCACCAGTACCATCACCATCATCACCA CCATCACCACCACCACCATTACCACCACCATCACTACCACCACCACCACC ATCAC	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BTNL8_chr5_180894159_180955906	180917113	T T	TAGGCCAA others(476): Show TAGGCCAACAAACTGGATAACCTAGCAGAAACCAAAGACAAGGTTAGACT ACGGCACTATGAAAAATCACAGGCCAACAAACTGGATAACCTAGCAGAAA CCAAAGACAAGGTTAGACTACGGCACTATGAAAAATCACAGGCCAACAAA CTGGATAACCTAGCAGAAACCAAAGACAAGGTTAGACTACGGCACTATGA AAAATCACAGGCCAACAAACTGGATAACCTAGCAGAAACCAAAGACAAGG TTAGACTACGGCACTATGAAAAATCACAGGCCAACAAACTGGATAACCTA GCAGAAACCAAAGACAAGGTTAGACTACGGCACTATGAAAAATCACAGGC CAACAAACTGGATAACCTAGCAGAAACCAAAGACAAGGTTAGACTACGGC ACTATGAAAAATCACAGGCCAACAAACTGGATAACCTAGCAGAAACCAAA GACAAGGTTAGACTACGGCACTATGAAAAATCAC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0135 a0002c0005t0001g0135	1	164	0.0061	483	c.673 others(500): Show c.673+5567_673+5568insCAGGCCAACAAACTGGATAACCTAGCAG AAACCAAAGACAAGGTTAGACTACGGCACTATGAAAAATCACAGGCCAAC AAACTGGATAACCTAGCAGAAACCAAAGACAAGGTTAGACTACGGCACTA TGAAAAATCACAGGCCAACAAACTGGATAACCTAGCAGAAACCAAAGACA AGGTTAGACTACGGCACTATGAAAAATCACAGGCCAACAAACTGGATAAC CTAGCAGAAACCAAAGACAAGGTTAGACTACGGCACTATGAAAAATCACA GGCCAACAAACTGGATAACCTAGCAGAAACCAAAGACAAGGTTAGACTAC GGCACTATGAAAAATCACAGGCCAACAAACTGGATAACCTAGCAGAAACC AAAGACAAGGTTAGACTACGGCACTATGAAAAATCACAGGCCAACAAACT GGATAACCTAGCAGAAACCAAAGACAAGGTTAGACTACGGCACTATGAAA AATCA	BTNL8	ENSG00000113303.12	transcript	ENST00000340184.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
C11orf21_chr11_2290628_2306918	2291282	A A	ATGCCACC others(476): Show ATGCCACCCGCAGCACCCCCAAAAACAACTCCCCGCTTTAGTATATTCAG AGGCGTGCCACCCGCAGCACCCCCAAAAACAACTCCCTGCTTCAGTATAT TCACAGAGGCGTGCCTCCCGCAGCACCCCCAAAAACAACTCCCTGCTTTA GTATATTCAGAGGCGTGCCTCCCTCAGCACCCCCAAAAACAACTCCCCGC TTTAGTATATTCACAGAGGCGTGCCACCCGCAGCACCCCCAAAAACAACT CCCCGCTTCAGTATATTCACAGAGGCGTGCCACCCGCAGCACCCCCAAAA ACAACTCCCCGCTTTATTCACAGAGGCGTGCCACCCGCAGCACCCCCAAA AACAACTCCCCACTTTATTCGCAGAGGTGTGCCTCCCGCAGCACCCCCAA AAACAACTCCCCGCTTTATTCACAGAGGCGTGCCACCCGCAGCACCCCCA AAAACAACTCCCCGCTTTAGTATATTCAGAGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 NA18940.hp2 NA18971.hp1 HG00544.hp2 NA18940.hp2 NA18971.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0003 a0003c0004t0003g0003	3	379	0.0079	483	c.66 others(494): Show c.6667_*6668insCGCCTCTGAATATACTAAAGCGGGGAGTTGTTTT TGGGGGTGCTGCGGGTGGCACGCCTCTGTGAATAAAGCGGGGAGTTGTTT TTGGGGGTGCTGCGGGAGGCACACCTCTGCGAATAAAGTGGGGAGTTGTT TTTGGGGGTGCTGCGGGTGGCACGCCTCTGTGAATAAAGCGGGGAGTTGT TTTTGGGGGTGCTGCGGGTGGCACGCCTCTGTGAATATACTGAAGCGGGG AGTTGTTTTTGGGGGTGCTGCGGGTGGCACGCCTCTGTGAATATACTAAA GCGGGGAGTTGTTTTTGGGGGTGCTGAGGGAGGCACGCCTCTGAATATAC TAAAGCAGGGAGTTGTTTTTGGGGGTGCTGCGGGAGGCACGCCTCTGTGA ATATACTGAAGCAGGGAGTTGTTTTTGGGGGTGCTGCGGGTGGCACGCCT CTGAATATACTAAAGCGGGGAGTTGTTTTTGGGGGTGCTGCGGGTGGCA	C11orf21	ENSG00000110665.12	transcript	ENST00000381153.8	protein_coding		4345		chr11	TogoVar
C20orf96_chr20_265863_295750	279069	A A	AGGGAGGG others(476): Show AGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAG GGAGGGACGGAGGGCGGGACGGCGGGAGGGCGGGACGGAGGGACGGAGGG AGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAGGGACGGAGGGAG GGAGGGCGGGACGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACGGCGGG AGGGCGGGACGGAGGGACGGAGGGAGGGCGGGACGGAGGGCGGGAGGGAG GGAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGCGGGACGGAGGGAGGG AGGGAGGGAGGGACGGAGGGACGGAGGGAGGGAGGGAGGGAGGGACGGAG GGCGGGACGGAGGGAGGGAGGGCGGAGGGAGGGAGGGCGGGACGGAGGGA GGGAGGGAGGGACGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAGG GAGGGAGGGCGGGAGGGCGGGACGGAGGGAGGGC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0192 a0002c0002t0001g0192	1	274	0.0036	483	c.465 others(498): Show c.465+102_465+103insGCCCTCCCTCCGTCCCGCCCTCCCGCCCTC CCTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCGTCCCTCCC TCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGCCCTCCCTCCCTCCGTCC CGCCCTCCGTCCCTCCCTCCCTCCCTCCCTCCGTCCCTCCGTCCCTCCCT CCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCCTCCGTCCCGCC CTCCCTCCCTCCCGCCCTCCGTCCCGCCCTCCCTCCGTCCCTCCGTCCCG CCCTCCCGCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCGCC CTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCGCCCT CCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCGCCGTCCCGCCCTCCGTCC CTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCT CCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C20orf96_chr20_265863_295750	279074	G G	GGGAGGGC others(476): Show GGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGG GACGGAGGGCGGGACGGCGGGAGGGCGGGACGGAGGGACGGAGGGAGGGC GGGACGGAGGGCGGGAGGGCGGGACGGAGGGACGGAGGGAGGGAGGGCGG GACGGAGGGAGGGAGGGCGGGACGGAGGGACGGAGGGAGGGAGGGCGGGA CGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACGGCGGGAGGGCGGGACG GAGGGACGGAGGGAGGGCGGGACGGAGGGCGGGAGGGAGGGAGGGCGGGA CGGAGGGAGGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAGG GACGGAGGGACGGAGGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACGGA GGGAGGGAGGGCGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGG ACGGAGGGCGGGACGGAGGGAGGGAGGGCGGGAC	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0149 a0002c0002t0001g0149	1	394	0.0025	483	c.465 others(496): Show c.465+97_465+98insGTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCC GTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGCCCTCCCTC CCTCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCCTCCGTCCCTCCG TCCCTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCCTC CGTCCCGCCCTCCCTCCCTCCCGCCCTCCGTCCCGCCCTCCCTCCGTCCC TCCGTCCCGCCCTCCCGCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTC CGTCCCGCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCCCTCCG TCCCGCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCGCCCTCCGTC CCGCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCGCCGTCCCGCCCTCCG TCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCGCCCTC C	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar

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